[Clinical analysis of urolithiasis in Poh Ai Hospital of I-Lan, Taiwan, R.O.C.--a comparative study with urolithiasis in Japan]. Between August 1987 and December 1990, 546 patients were admitted to the department of Urology at the Poh Ai Hospital of I-Lan, Taiwan, R.O.C. for the treatment of urinary stones. These urinary stone cases accounted for 50 to 60% of all urology patients admitted. The incidence of urolithiasis in I-Lan was estimated at 147/100,000 population in 1990. There were 402 male patients and 144 female patients, The male to female ratio was 2.8: 1. There were 450 upper urinary tract stones (kidney, ureter) in 314 males and 136 females, and 79 lower urinary tract stones (bladder, urethra) in 72 males and 7 females. The ratio of upper to lower urinary tract stones was 6:1. Endourological treatments such as percutaneous nephrolithotripsy and transurethral ureterolithotripsy have increased rapidly in recent years. A summary of the present analysis for composition of 365 stones follows. The most frequent type was calcium-containing stone (92.3%), followed by infection stone (4.7%), then uric acid (UA) stone (3.0%). There were no UA stones found in the female patients. According to urinalysis criteria of more than 10 WBC/HPF (x 400), pyuria was found in 67 cases of 334 metabolic stones (20.1%), and 11 cases of 17 infection stones (67.7%). There were neither pediatric case of stone formation nor cystine stones.


[Immunological study of interferon-gamma therapy for advanced renal cell carcinoma]. Immunologic and anti-tumor effects of interferon-gamma were studied in six patients with advanced renal cell carcinoma. A daily dose of 10 x 10(6) JRU/m2 of interferon-gamma (IFN-gamma) was given consecutively for five days and the treatment reiterated nine days later. Then the same dose was given every two days for three times and this regimen was also reiterated nine days later. Peripheral blood lymphocytes were analyzed before and one, three, five and eight weeks after the initial administration of IFN-gamma. Although the total number of lymphocytes and monocytes were not changed, CD8 (23.4 to 31.2%, p < 0.05), CD16 (12.4 to 19.3%, p < 0.01) and LeuHLA-DR (29.0 to 39.5%, p < 0.01) positive lymphocytes were significantly increased after the therapy. Non-induced LAK activity (0.6 to 10.8%, p < 0.05) and serum neopterin (3.5 to 10.8 nmol/L, p < 0.01) were also increased. These immunological parameters drastically changed during the consecutive administration of IFN-gamma, and tended to return to the previous value after this period. However, tumor regression was not clinically obtained. Our findings indicate that interferon-gamma stimulated the anti-tumor activity of the host, and administration of IFN-gamma is thought to be of immunological significance even in the advanced high stage cases.


[Clinical significance of stereological estimation of mean nuclear volume in human bladder carcinoma--further analysis of nuclear morphometric variables]. Recently, nuclear morphometry methods have been used to quantitatively analyze the malignant potential of cancer cells. We have previously shown that the malignant potential of human bladder carcinoma can be analyzed quantitatively through mean nuclear volume measurements. In the present study, we examined other measurements obtained from nuclear morphometry and evaluated their usefulness as indicators of the outcome of bladder carcinoma. Our subject group consisted of 161 patients with untreated bladder carcinoma. Four nuclear morphometric values were measured on each subject: the mean nuclear volume (MNV), the mean nuclear area (MNA), the nuclear roundness factor (NRF) and the variation of nuclear area (VNA). MNV, MNA and VNA values increased as the tumors progressed to a more advanced stage and grade of malignancy. Patients were then divided into two subgroups based on each morphometric value: small MNV (< 186.9 microns3) and large MNV (> or = 186.9 microns3); small MNA (< 33.6 microns2) and large MNA (> or = 33.6 microns2); low NRF (< 81.1) and high NRF (> or = 81.1); and low VNA (< 33.0) and high VNA (> or = 33.0). Survival rates were significantly higher among patients with a small MNV, a small MNA and a low NRF (5-year survival rate; 93.0, 84.9 and 84.6%), compared to patients exhibiting high values (5-year survival rate; 59.7, 61.3 and 61.9%). For patients with grade 2 tumors, those with a small MNV had a high survival rate (5-year survival rate; 95.2%), similar to that of patients with grade 1 tumors (5-year survival rate; 95.2%)(ABSTRACT TRUNCATED AT 250 WORDS)


[The role of urodynamic study in female patients with urinary incontinence]. To determine the type of urinary incontinence in 96 female incontinent patients, we performed a comparative study between the clinical evaluation and the results of urodynamic studies. Their complaints, physical examination, laboratory examinations including routine urological X-ray and ultrasonic studies, revealed that 15 to 30% of the patients had another type of incontinence than those with stress incontinence, urge incontinence and those in whom diagnosis was made from urodynamic studies. Urodynamic studies disclosed that another urinary incontinence type was observed in 7 to 18% of the patients, who were not improved in spite of treatment which was required because of their complaints and physical examination. Our findings showed that urinary incontinence could not be classified according to the frequency of urination or vesical volume. Urodynamic studies may be essential in female patients with urinary incontinence scheduled to have an operation or for whom initial treatment was unsuccessful.


[Subcapsular orchiectomy using the ultrasonic surgical aspirator in patients with advanced prostatic cancer]. We report a technique for performing subcapsular orchiectomy using the ultrasonic surgical aspirator (USA). The procedure was simple and safe, and was completed within one hour in 2 patients on whom it was carried out. Operative complications such as bleeding, postoperative pain and wound swelling were minimal, and compression dressings were not necessary. Postoperatively, the serum testosterone value was lowered to the castrate level. We conclude that subcapsular orchiectomy using USA is superior to conventional bilateral scrotal orchiectomy, and will be a useful option.


[Solitary infected renal cyst: a case report]. A 48-year-old man was admitted to our hospital because of high fever and left flank pain. Laboratory findings revealed a high white blood cell count, high C-reactive protein level, and severe pyuria. Sonographic examination revealed an enlargement of the cyst at the upper pole of the left kidney that had already been detected. Percutaneous drainage was performed for the cyst and 60 ml of purulent fluid was obtained. Bacterial culture of the fluid was positive for Propionibacterium acnes and gamma-Streptococcus. The drainage and administration of povidone-iodine was continued for 7 days. The size of the cyst was reduced with disappearance of symptoms.


[Esophago-bronchial fistula caused by chemotherapy with bronchial artery infusion for pulmonary metastases from urinary tract cancer]. We treated a patient who had had postchemotherapeutic pulmonary metastases from urinary tract cancer by bronchial artery infusion (BAI) chemotherapy. Pulmonary lesions showed a 33.0% reduction after the treatment. However, esophago-bronchial fistula (EBF) occurred after the second BAI. The patient died of recurrent aspiration pneumonia and sepsis in the sequelae of the repair surgery. The fistula was considered to have resulted from an increase in the blood flow to the esophageal branch originating from the bronchial artery after the first BAI, which had consequently damaged the local tissue due to accumulation of anti-cancer drugs. In order to avoid these complications, the secondary change of blood flow should be examined precisely by preceding angiographical mapping, and the concentration and the infusion speed of the cytotoxic drugs, should be under adequate control.


[Primary carcinoma in situ of the ureter: a case report]. A 47-year-old man presented with gross hematuria and left lower abdominal dull pain of 6-weeks duration. Cystoscopic examination revealed bloody efflux from the left ureteral orifice but no tumor in the bladder. Retrograde pyelogram showed irregular stricture of middle portion of the left ureter. Cytologic studies of the voided urine and left ureteral urine were positive for cancer, and nephro-ureterectomy with excision of a bladder cuff was carried out. The surgical specimen showed no intraluminal mass but histologically, transitional cell carcinoma in situ with G3 anaplasia and squamous metaplasia was found in the narrowed portion of the ureter. Followup examinations, including exfoliative urinary cytology, cystoscopy and IVP revealed no abnormalities until intravesical recurrence was confirmed 34 months later. Transurethral resection of bladder tumor was performed and superficial papillary transitional cell carcinoma with G2 anaplasia was found in the trigone of the bladder. Followup examinations for the last one year have revealed no abnormalities.


[Prostatic carcinoma presenting as an abdominal mass: a case report]. Prostatic carcinoma presenting as an abdominal mass is a very rare disorder. A 64-year-old man was referred to our hospital with the chief complaint of a right lower abdominal mass on March 6, 1984. Physical examination revealed a firm, smooth, fixed, non-tender, pulseless fist size mass in the right lower abdomen. Rectal examination revealed an apple size, smooth and elastic firm prostate which had an induration. Needle biopsy of the prostate showed well-differentiated adenocarcinoma. At first we regarded the abdominal mass as retroperitoneal tumor unassociated with prostatic carcinoma. After preoperative irradiation (20 Gy) to the pelvis, the abdominal mass was resected and bilateral orchiectomy was performed on April 11, 1984. The mass was histologically diagnosed as a metastatic lesion from prostatic carcinoma. On the basis of these findings, we considered the mass to be due to pelvic lymph node metastasis from prostatic carcinoma. His postoperative course was uneventful. In April 1991, he is still alive without evidence of recurrence or bone metastasis.


[A case of muellerian duct cyst treated with minocycline hydrochloride sclerotherapy under ultrasound control]. We present a case of a muellerian duct cyst in a 55 year-old man. A cystic lesion was incidentally found between the prostate and the bladder on transabdominal ultrasound examination. Computerized tomography revealed a low density area homogeneous and round with a clear margin. Both urethrocystgram and vesiculogram demonstrated no cystic lesion. On diagnosis of muellerian duct cyst percutaneous needle aspiration was performed under ultrasound control. The aspirated fluid was yellow, clear and negative for cytology. Microscopically no spermatozoa were found in it. Minocycline (100 mg) was injected into the cyst. No recurrence has occurred since the operation. The literature of the cyst was briefly reviewed.


[Primary adenocarcinoma of the male urethra with high CA125 level: a case report]. A case of primary adenocarcinoma of the male urethra with high CA125 level is reported. A 66-year-old man was admitted to our hospital with dysuria and perineal discomfort. The urethrocystogram revealed an irregular urethral margin in the bulbo-membranous urethra. Computer-tomographic (CT) scan and transrectal ultrasonography revealed an irregular mass between the urethra and rectum. Cytologic examination of the urine was negative for malignancy. Endoscopy revealed an irregular bulbo-membranous urethra with a small papillary lesion. Transurethral biopsy was performed and histological diagnosis was adenocarcinoma. The patient rejected surgical treatment and radiotherapy was performed. However, the disease progressed and the patient died from liver metastasis six months later. We considered that CA125 was valuable as a tumor maker in this patient.


[Primary urethral carcinoma in a female: report of a case]. An 74-year-old female patient with urethral carcinoma is reported. A mass at the urethral meatus was seen and diagnosed as transitional cell carcinoma and squamous cell carcinoma by biopsy of the lesion and urine cytology. Total cystectomy and urethrectomy were performed. Adjuvant therapy was not performed, but recurrence has not been seen 36 months after operation.


[A case of chronic scrotal hematocele and review of the literature]. A 38-year-old man visited our hospital because of swelling of left scrotal content. He had no history of trauma of scrotum, fever, pain or dysuria. Physical examination revealed a tumor larger than a fist in the left scrotum. Ultrasonography revealed an echogenic mass with echolucent area in the scrotum. Surgical extirpation of the left scrotal tumor was performed under the diagnosis of left testicular tumor. The mass was encapsulated by a white fibrous membrane and was 700 g in weight. The tumor contained 200 ml of dark brown pus-like material. Histological examination revealed deposition of cholesterine crista and infiltration of lymphocyte in tunica vaginalis with extremely atrophic testis, destructive spermatogenesis and atrophic epididymis. Twenty one cases of chronic scrotal hematocele have been reported in the Japanese literature. The age of the patients reported was 38 to 77 years old with a mean age of 65 years. Orchiectomy was done under the diagnosis of testicular tumor in 20 of the 21 cases. Our case was thought to be of an idiopathic chronic scrotal hematocele. The disease should be considered even in the absence of a particular cause such as injury and inflammation of scrotal content.


[Thrombosis of the posterior scrotal vein: report of two cases]. A 47-year-old architect and a 30-year-old designer of audio goods presented with thrombosis of left and right posterior scrotal vein, respectively. Both had scrotal masses associated with a feeling of heaviness. Physical, operative and microscopic findings were similar. The lesions were palpated as nontender, slender, elastic masses and located parallel to the urethra in the posterior aspect of the scrotum. At surgical exploration the lesions appeared to be thrombosis of posterior scrotal vein and were removed. Both patients have remained well one year in one and four months in the other after operation. Pathological diagnosis for both surgical specimens was organized thrombosis of vein with eosinophilic infiltration. Eosinophilic infiltration to lesions in the present cases and the occupation of patients suggested that some immunological disorders and localized venous stasis for long time during their sitting work might relate to the formation of thrombosis in the posterior scrotal vein. To our knowledge this is the first report of thrombosis of the posterior scrotal vein.


[A case of intrascrotal hemangioma].

[A case of intrascrotal hemangioma]. Intrascrotal hemangioma is rare. A case is presented and the literature is reviewed. A 35 year-old male with the complaint of a painless right scrotal mass underwent right high orchiectomy because the mass was hard and difficult to separate from the right testicle in scrotal exploration. Histologic study revealed that the tumor consisted of a venous hemangioma and the greater part of it was displaced by organized connective tissue. It is extremely rare for a case of intrascrotal hemangioma to require orchiectomy.


[Utility of recombinant human erythropoietin on the anemia of elderly hemodialysis patients]. Recombinant human erythropoietin was administered to 59 patients over 65 years of age receiving maintenance hemodialysis treatment in Kyoto and Shiga district, in order to evaluate its utility on renal anemia. After 6 months of administration, the hematocrit rose from 20.8 +/- 3.5% to 28.0 +/- 3.7% with concomitant improvement of subjective symptoms related to anemia. Twelve patients developed side effects, in 10 of whom elevation of blood pressure was observed. We found no clinically significant abnormalities in the laboratory data. In conclusion, recombinant human erythropoietin is highly useful in the treatment of renal anemia in elderly hemodialysis patients.


[Prophylactic effect of UFT in combination with intravesical chemotherapy on the recurrence of superficial bladder tumor]. The influence of N1-(2-tetrahydrofuryl)-5-fluorouracil plus uracil (UFT) on the recurrence of superficial bladder tumors was evaluated in a randomized clinical study. Group A (n = 196) underwent transurethral resection (TUR) and the intravesical chemoprophylaxis, while group B (n = 193) received 400 mg per a day of UFT orally for 6 months in addition to the instillation therapy. These adjuvant therapy was started one week after TUR. Consequently, 30 patients in group B showed UFT-related toxicity and administration of UFT was discontinued in 10 of them. In addition, 87 patients in group B did not complete the 6-month course of UFT administration. Comparison of 2-year actuarial non-recurrence curves revealed no significant difference between groups A and B. However, UFT seemed to have a favorable prophylactic effect when recurrence rates were compared among those patients with recurrent tumors (generalized Wilcoxon: p = 0.1277), and those with recurrent multiple tumors (p = 0.0847).


[Clinical application of Dornier Lithotripter Compact for upper urinary tract stones]. The results of clinical application of a Dornier Lithotripter Compact (Dornier Medical Systems Co., Ltd.) on upper urinary tract stones are presented. Between October 1991 and June 1992, 30 patients with upper urinary tract stones were treated with ESWL in the Department of Urology, Kyoto University. Although 49 sessions for 32 stones in total were carried out without anesthesia, analgesics such as indomethacin and/or pentazocine were required in 37 sessions (76%). Stone-free rate 3 months after the last session was 12/30 cases (40%) and the success rate, the ratio of the patients without residual stone or with residual stones less than 4 mm to total 30 patients, was 18/30 (60%) at the point. Macrohematuria was seen after the treatment in 42/49 (86%) sessions, but it disappeared within 3 days in all instances. Pain necessitating analgesics after the treatment was seen in 16/49 (33%) sessions. Subcutaneous bleeding and fever-up of less than 38 degrees C were seen in 15/49 (31%) and 8/49 (16%) sessions, respectively, but bacteremia after the treatment was not detected in any case. No serious adverse effects were observed in blood chemistry. The Dornier Lithotripter Compact is considered to be useful in the treatment of renal and upper third ureteral stones.


A prospective study on some factors which influence the delivery of low birth weight babies in a developing country. The study was prospective in design and carried out in Ibadan, Nigeria. It was undertaken in order to provide more information on the low birth weight deliveries seen here and to evaluate some factors associated with their births. 600 randomly selected gravid women who presented to the antenatal booking clinics for the first time in this pregnancy were followed up till delivery of their babies. Data on 492 women who produced normal, singleton babies were analysed. The mean birth weight was 3167g +/- 451g (males; 3205g +/- 469g and significantly higher than of females of 2991g +/- 468g). The incidence of low birth weight (LBW) weight of 2500g and less was 8.3% and comprised of 18 males, 22 females and 1 unknown sex. 80% of these LBW babies were term (37-41 wks gestation) at delivery, while 20% were pre-term (< 37 wks). There was seasonal variation in the incidence of LBW, the risk being highest during the peak of dry season and lowest during the rainy season. The mothers age, parity, height, ponderal index at delivery, and total maternal weight gain as well as birth interval were each significantly related to the incidence of LBW in these mothers (P < 0.01). Maternal education as well as socio-economic class were not significant (P > 0.5).


Student's attitude and predictor of performance in anatomy. A survey of the attitude and performance of 158 students, made up of 101 males and 57 females that undertook second year anatomy examination in Obafemi Awolowo University, Ile-Ife, Nigeria was conducted. The results showed that there was no significant difference in the performance of the male and female students (P > 0.05); that age, performance at the Joint Matriculation Examination (JME), grade point average (GPA) in first year in the University, and performance in practical anatomy dissection had significant positive correlation with performance at second year examination in anatomy (PA2) (P < 0.05). However, Chi-squared test showed that hours spent on private students, JME score, have no significant association with PA2 (P > 0.05), but GPA has significant association with PA2 (P > 0.05). This suggests that GPA in the first year in the University is a predictor of performance in year two anatomy.


The development of the cerebral mantle in the mouse embryo after brief in utero hyperthermic stress. The width of the different layers of the cerebral mantle of 16-day mouse embryos was measured after exposure of pregnant dams to a hyperthermic stress of 43 degrees C for 10 minutes in a laboratory oven, during the period of neural tube closure. The dams were exposed on day 7 1/2 or 8 1/2 post coitum. A control group of mice was placed in the oven at ambient temperature (28 degrees C) for 10 minutes. At 43 degrees C oven temperature, the core temperature of the pregnant dams was elevated by 2-3 degrees C (P < or = 0.001). In non-pregnant mice, this degree of heat stress results in a sustained hyperthermia of about six minutes and a return to normal temperature 15 minutes after removal from the oven. There were no congenital malformations of the central nervous system. The mean litter sizes, percentage resorptions and fixed embryonic weights were similar in the experimental and control groups. The width of the cortical plate was significantly reduced in all the regions measured (P < or = 0.001). The width of the matrix layer was reduced only in the fronto-parietal region. The results suggest that this sub-teratogenic dose of hyperthermic stress reduces neuronal population in the cerebral cortex. This may be the structural substrate for the impairment of function in animals heat stressed during prenatal development.


The prevalence of hepatitis B surface antigen in the Gezira (Sudan). The prevalence of hepatitis B surface antigen (HBsAg) was studied in blood donors and laboratory technical staff from the Gezira area in Sudan. Of a total of 110 donors, 19 (17.3%) were found to be carriers of the antigen and 4 of 33 (12.1%) technical staff were also found to be carriers. Routine testing of blood donors is recommended as a way of reducing the incidence of post-transfusion hepatitis in the Gezira area of Sudan.


Translaryngeal guided intubation in a patient with raised intracranial pressure. A 60-year old man with intracranial space occupying lesion, presented with difficulty in intubation at induction of anaesthesia. Several attempts at direct tracheal intubation were made until the airway was finally secured. Though the brain was slack, the tumour could not be located at this operation. He presented for re-operation with worse signs of raised intracranial pressure which may accompany repeated attempts at intubation, a planned translaryngeal guided intubation was employed to secure the airway. Where fibreoptic laryngoscope is unavailable and difficult tracheal intubation is envisaged, translaryngeal guided intubation may save time and reduce morbidity of prolonged and repeated attempts at tracheal intubation.


Pattern of adrenocortical response to the stress of severe illness in Nigerians. Twenty-eight severely ill, hospitalized Nigerian patients, 18 males and 10 females with a median age of 41 years (group I) and 20 stable ambulatory patients, 11 males and 9 females with a median age of 42.5 years (group II), had early morning plasma cortisol measurements. Ten healthy young Nigerian males with a mean age of 22.1 years (group III) had plasma cortisol estimations during insulin tolerance test. The mean (+/- SD) cortisol values for the three groups in nmols/l were as follows: group I--389.3 (202.4), group II--267.1 (67.4), group III-624.5 (81.1). The results for the group III healthy controls represent the peak (60 mins) value during insulin induced hypoglycemic stress. A one way analysis of variance (ANOVA) demonstrated a statistically significant difference between the three mean cortisol values, P < 0.001. A pair-wise comparison using the t-test also showed significant differences between the groups, P < 0.05 in each case. An important observation was the variable pattern of cortisol stress response in different types of illnesses. Cases of stroke appeared to be associated with increased cortisol stress values (Z-score + 5.67) while patients with hypotension (B.P. < or = 90/60) and those on Rifampicin had reduced cortisol responses (Z-scores - 3.66 and 3.51 respectively). However, no firm recommendations can as yet be made regarding the usefulness of corticosteroids in life-threatening illnesses among Nigerians, other than those for which steroids are known to beneficial.


Cross reactivity between Klebsiella pneumoniae and ocular tissue. Klebsiella pneumoniae has been implicated as a possible aetiological agent in ankylosing spondylitis and acute anterior uveitis. Cross-reactivity between antigens of klebsiella and bovine vitreous has been reported. In the present study sera from rabbits immunised with Klebsiella pneumoniae was tested against fresh guinea pig and human ocular tissues using immunodiffusion and immunofluorescent methods. No cross-reactivity between klebsiella and the ocular tissues used could be demonstrated by these techniques.


Socio-economic class distribution of the prognostic variants of lymphoproliferative cancers in Nigerians. One hundred and twenty Nigerians with various lymphoproliferative cancers were grouped according to socio-economic class and the prognosis of their disease. The best prognostic variant of acute lymphoblastic leukaemia occurred mainly in the highest socio-economic class and the worst variant mostly in the low socio-economic class. Chronic lymphocytic leukaemia, a low grade malignancy, and the high grade Burkitt's type of Non-Hodgkin's lymphoma occurred predominantly in the low class. The relationship between prognosis and socio-economic class was not so remarkable in patients with Hodgkin's disease and multiple myeloma. The precise mechanisms by which socio-economic strata influence development of the different prognostic variants of individual lymphoproliferative cancers are not certain.


An evaluation of adi agbon as a clearing agent in paraffin processing of embryonic tissues--preliminary report. Adi agbon, an oily extract of the endosperm of the coconut fruit (Cocoa nucifera, L.) was investigated as a clearing agent for embryonic soft tissues. Paraffin sections stained with haematoxylin an eosin revealed normal tissue architecture and light microscopic details were easily identified. However, some tissue shrinkage was observed, particularly in the brain. As prepared for this study, this locally available compound is useful for routine work but appears unsuitable for quantitative histological studies.


The causes and course of acute tubular necrosis in Nigerians. To characterize the precipitating factors and course of acute tubular necrosis (ATN) in Nigerians, we studied the clinical course of ATN in 40 consecutive patients (22 male) seen in the Renal Unit of the University College Hospital, Ibadan, between June 1986 and July 1989. Nephrotoxicity resulting from the use of traditional herbal remedies (15 patients, (37.5%)) and septicaemia (7 patients (17.5%)) were the most commonly identified precipitating factors. The mean duration of the oliguric phase was 9 +/- 3.8 days, while that of the diuretic phase was 17.5 +/- 7.1 days. Majority (26 patients (65%)) were anuric at presentation. The mean urine output during the oliguric phase was 16.7 +/- 36.5 ml, whereas it was 3622 +/- 2159 ml during the diuretic phase. Transient hypertension occurred in 8.5% of cases. A total of 10 patients (25%) died. Six deaths occurred in non-dialysed patients while 5 were associated with encephalopathy. Of the 15 patients in whom ATN resulted from the use of herbal remedies, only 1 died. Nephrotoxicity from traditional herbal remedies is an important cause of ATN in Ibadan. The exact pathogenesis is unclear and warrants further investigation.


Benign Familial Neonatal Seizures.

Benign Familial Neonatal Seizures. Benign Familial Neonatal Seizures (BFNS) occur in normal newborns without perinatal neurological damage or metabolic abnormalities in the setting of a positive family history for neonatal seizures. This autosomal dominant disorder has an excellent prognosis, in contrast to most other causes of neonatal convulsions. This paper points out the need to include BFNS in the differential diagnosis of neonatal seizures and to specifically seek a family history to avoid an unnecessarily extensive diagnostic evaluation and poor prognostication. We present a family with one atypical and three classic cases. Further study of BFNS may reveal more definitive basic science information leading to the inclusion of variant forms into the currently narrow clinical definition.


Characteristics of firearms and gunshot wounds as markers of suicide. Data from a total of 1,200 cases that the Medical Examiner of Dallas County, Texas, ruled as suicide with a firearm have been compared with the results of forensic laboratory examinations and tests; 75% are with handguns and 25% are with long guns. The incidence of suicides by gender yields 82% males and 18% females, with the most common entrance site being the head. With regard to racial distribution of persons committing suicide, > 88% are white in the study population group, which is 76% white. Data are presented for the incidence of blood detected inside and on the muzzle end of the barrel of the firearm, and for the persistence of blood inside the barrel even after the weapon was discharged to obtain test bullets. The analysis of handwipings for primer residues shows that "positive" results are obtained for approximately 50% of the revolvers and approximately 32% of the pistols when the caliber is > 22. Other projects such as transfer of gunshot residues to the hand by simply handling the weapon, the incidence of single-contact wounds in homicide versus suicide cases, and the percent of positive identification of bullets with weapons submitted are described.


The effects of various intermediate targets on dispersion of shotgun patterns. Intermediate targets cause dispersion of a shot pattern by a ricochet effect. Thus, the intermediate target must have sufficient thickness or tensile strength to slow down the initial group of shot striking the target. Aluminum and steel screen, ordinary window glass, thin cardboard and thin cowhide did not manifest these qualities under the conditions of these experiments.


Wounds caused by contact with muzzle-lift relief ports (Mag-Na-Port). Fan-shaped stippled burns were produced on the skin when a revolver whose barrel had been modified by the Mag-Na-Port process was fired twice with the side of the muzzle in contact. A grazing wound was produced by one bullet, and an oblique entry was produced by the other. The characteristics of Mag-Na-Port wounds and test shots are described, and these are compared with test shots from two other higher power revolvers.


Renal artery bullet embolism.

Renal artery bullet embolism. Bullet embolism is a well-recognized phenomenon. While bullet embolism is not common, renal artery bullet embolism appears to be very rare. We report three cases of bullet embolism to a renal artery. Autopsy findings and bullet types are presented. Such cases are of particular interest to both the medical examiner and the clinician. Failure to consider this phenomenon clinically could lead to infarction of a kidney. A consideration of this phenomenon at autopsy could shorten the dissection time required to retrieve the bullet.


So-called accidental firearm fatalities in children and teenagers in Tennessee, 1961-1988. Tennessee State medical examiner reports of firearm fatalities classified as accidents involving victims aged 19 year or less from 1961 through 1988, were reviewed to evaluate circumstantial and contributing factors. A total of 225 were analyzed. The peak age for victims was 17 years, and there were more than five times more male than female victims. In Shelby County (Memphis), the racial distribution of fatalities was approximately that of the general population. Playing with a gun was the most frequent circumstance. The person responsible for pulling the trigger was equally likely to be a friend, a family member, or the victim. Head or neck were injured in most cases. The urban mortality rate was nearly twice that of the rural rate. More than half of the deaths in urban counties occurred indoors and involved handguns, whereas in rural counties only a third were due to handguns and the location was more often outdoors. Deaths in rural counties showed a seasonal variation that corresponded with the hunting season; by contrast, a peak in early summer was noted in the urban deaths. Defective guns or guns unsafe in design caused several deaths. (Semiautomatic pistols, which can be fired after unloading the ammunition magazine, are conspicuous examples of guns unsafe in design.) An important observation of this study is that medical examiners vary considerably in their classification of accidental manner, particularly when children are involved. Furthermore, medical examiner reports need to include much more information than is currently recorded if they are to be useful in guiding public policy to reduce firearm injuries.


The rebirth and blooming of forensic medicine, Milton Helpern Lecture. This features a presentation by Dr. Sidney Kaye on the occasion of the Milton Helpern Lecture at the annual meeting of the National Association of Medical Examiners near Fort Myers in Florida in 1989. The author experienced the "golden age" of forensic medicine as a student and associate of Dr. Alexander Gettler in the New York Medical Examiner's Office. He also worked with Dr. Rutherford Gradwohl in the St. Louis Police Department and was one of the founders of the American Academy of Forensic Sciences. He was the toxicologist in the Virginia medical examiners' system before moving to Puerto Rico. His discussion is a historical review of his experiences in developing forensic sciences.


Death due to attack from chow dog.

Death due to attack from chow dog. It is estimated that between one and four million persons per year are bitten by dogs in the United States. While most injuries associated with the bites are minor, serious sequelae, and even death, may occur. Most victims of fatal dog attacks are children < 1 year of age or elderly women. The most frequent cause of death is hemorrhage and shock from major vessel damage. A case is reported in which an elderly woman was attacked by her pet Chow dog. The victim received multiple superficial abrasions, contusions, and lacerations from the dog attack. A large perforation of the right external pudendal vein and three perforations of the left superficial femoral vein resulted in exsanguination and death. Fractures of the left 2nd through 4th ribs with underlying pulmonary contusion were also found.


Visual identification from videotape after electronic erasure of mutilating injuries. A rapid method of identification by using computerized videotape erasure of mutilating injuries is presented. The identification of a human head, which was mutilated and severed in two major fragments, illustrates the application of the method. Following the reconstruction and suturing of the head fragments, the face was videotaped and the mutilating injuries were electronically erased. The televised broadcasting, in color, of the reconstructed face, free of injuries, elicited prompt visual identification by relatives of the deceased within < 1 h.


Life masks and death masks.

Life masks and death masks. The death of a relative or anyone in a small, tightly knit community with closely shared cultural and religious values has great social impact. As part of the grieving process, people wish to preserve the memory of a loved one or a community leader. Life masks and death masks have been used as art forms to mark life passages, offering permanent reminders of family and continuity with the past. This article discusses the history and technique of life and death masks and their role in 19th-century American culture.


Homicidal manual strangulation and multiple stun-gun injuries. Stun guns are electric shock devices that are used by a number of law enforcement agencies to subdue violent offenders, but sometimes are discharged into human bodies as offensive weapons. We autopsied a 22-year-old woman who was strangled and had many stun-gun injuries on her head, chest, abdomen, arms, and legs. The stun-gun injuries consisted of many pairs of round erythemas with or without central paleness, some of which were accompanied by circumferential abrasions. To determine whether the electric shocks were administered before or after her death, we studied stun-gun injuries on pigs before and after death and found that the shocks after death did not mark the animal skin. Based on this experiment, all of the stun-gun injuries on the victim's body were concluded to have been inflicted before her death.


Failure of thumbtacks used in control of presacral hemorrhage. We report a case of failure of thumbtacks used in achieving last-resort hemostasis in a gunshot injury to the presacral venous plexus/sacrum. Four of five thumbtacks used detached. The exact mechanism of failure is not known. To our knowledge, there are no reports of failure of these hemostatic devices in the literature. This finding suggests to us that thumbtack hemostasis is not without complication. It is not known whether injury to internal viscera and organs occurred secondary to the loose thumbtacks. We suggest that surgeons as well as pathologists use caution when exploring pelvic or abdominal cavities following pelvic vascular trauma due to the considerable danger posed by these sharp objects.


Fatal hydrothorax associated with subclavian vein catheterization for hemodialysis. A rare iatrogenic complication of subclavian vein catheterization for hemodialysis is massive hydrothorax. A case is presented that illustrates the need for adherence to a standard procedure of prompt roentgenologic examination in conjunction with catheterization, and emphasizes the importance of the autopsy as a means of quality assurance.


Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. A case of sudden death associated with fatty liver and encephalopathy is described in a 4-year old white boy with medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. The death was caused by hypoglycemia triggered by fasting and vomiting associated with a minor viral infection. The differential diagnosis of the hepatoencephalopathy is discussed in relation to other conditions, especially Reye's syndrome. The forensic pathologist should be familiar with MCAD and other deficiencies of beta-oxidation of fatty acids as a cause of sudden unexpected death in children in order to advise parents in genetic counseling to prevent disability or death of other affected, but still asymptomatic siblings.


Papillary hyperplasia of the lingual tonsil and sudden death in epilepsy. Papillary hyperplasia of the lingual tonsils is a rare entity not previously reported at autopsy. We report a case that occurred in a 19-year-old man who died suddenly from his epilepsy, associated with aspiration of gastric contents. We describe the pathological features of this unusual condition, discuss the possible significance in this case and stress the importance of routine examination of the tongue and pharynx in every autopsy.


An asthmatic death while under Chinese acupuncture and moxibustion treatment. A 29-year-old Japanese man with bronchial asthma died while undergoing Chinese acupuncture and moxibustion treatment. The autopsy findings of the lungs were compatible with a diagnosis of severe asthma. Further, on immunohistochemical examination, hypoxic brain damage and an unusual distribution of pulmonary surfactant were found. In contrast, only minor hemorrhages in the right semispinal muscle and round-shaped bruises were seen as a result of Chinese acupuncture and moxibustion treatment. Thus, it was concluded that the man had died from a severe asthmatic attack.


Clinical and pathological findings in fatal plant oxalosis. A review. Poisoning by ingestion of oxalate-containing plants, such as raw rhubarb, is infrequent, and such deaths are rare. We present a review of the most important clinical and pathological aspects of oxalate poisoning and recommend that the public be educated about the dangers of eating unknown plants with potentially adverse effects.


Methadone toxicity causing death in ten subjects starting on a methadone maintenance program. Methadone maintenance therapy is designed to reduce the need for addicts to use heroin or other illegal opiates. Death in patients starting on such a program has not previously been documented. We report the death of 10 persons who died within days of starting a methadone maintenance program administered by general practitioners. Their bodies were subject to a full autopsy by forensic pathologists, with a full toxicological examination. The mean starting dose had been 53 mg, which had been increased to a mean of 57 mg by the final dose. Death occurred after a mean of 3 days. The mean blood methadone concentration at death was 2.1 mumol/L. Complete toxicological analysis showed that six subjects had additional drugs present including two with alcohol, two with benzodiazepines and morphine, and one with benzodiazepines alone. Pathological examination revealed the presence of chronic persistent hepatitis in all subjects and bronchopneumonia in five. The causes of death were given as methadone toxicity or methadone toxicity in combination with bronchopneumonia. Our observations highlight the dangers of methadone in the first days of starting on a maintenance program, particularly when the starting doses are relatively high and subjects have no demonstrated tolerance to opiates.


Toxicological findings in a death involving dextromethorphan and terfenadine. A case of fatal self-poisoning with dextromethorphan, an antitussive, and terfanadine, an antihistamine H1, is reported. Both drugs were quantified in several postmortem tissues and fluids using capillary gas chromatography coupled to mass spectrometry. Results are discussed in the light of the existing literature.


Fatal respiration of liquefied petroleum gas. We have found that an efficient method of providing evidence of lethal solvent abuse is to sample headspace above lung tissue and then perform cryogenically focused gas-liquid chromatography. In the case presented, the level of lethal agent in lung tissue was low, but the solvent was present in abundance in the pleural cavity. We conclude that the pleural cavity acts as an efficient trap for aspirated substances.


How much of the recent rise in breast cancer incidence can be explained by increases in mammography utilization? A dynamic population model approach. Largely unexplained increases in breast cancer incidence of about 1% per year have been documented back to the 1940s. Since 1982, breast cancer incidence in women aged 40 years and above has been increasing at a faster rate than this long-term secular trend, especially in women aged 60 years and above. Increases in the use of mammography since 1982 (which have been documented in population surveys of women) provide the most plausible explanation for the incidence increase over the long-term secular trend. A study by White et al. (J Natl Cancer Inst 1990;82:1546-52) found that, for women aged 45-64 years, the increase in mammography utilization could explain the incidence increase, while for women aged 65-74 years, it could account for only half the increase. The authors have developed an alternative model to that of White et al. that incorporates estimates of differential lead time (time from screen detection to clinical detection in the absence of screening) by age group. Using this model, the authors show that if older women have longer lead times, than similar increases in mammography utilization across age groups will lead to a larger incidence increase in older women. Thus, the observed increases in mammography utilization are generally concordant with increases in incidence, even in the older age groups.


A case-control study of the risk of breast cancer in relation to oral contraceptive use. The relation of oral contraceptive use to the risk of breast cancer was evaluated in a case-control study of women under the age of 70 years, conducted in Toronto, Canada, from 1982 through 1986. A total of 607 breast cancer cases identified in a cancer hospital were compared with 1,214 controls matched to the cases on neighborhood and decade of age. Information on oral contraceptive use and risk factors for breast cancer was collected in home interviews. Conditional logistic regression was used to control multiple confounding factors. For women aged 40-69 years (527 cases, 1,054 controls), the results suggest that oral contraceptive use does not increase the risk of breast cancer. Multivariate relative risk estimates were close to or below 1.0 for long durations of use overall and in various categories of parity status and other factors. For women under the age of 40 years, the data were sparse (80 cases, 160 controls). Although there were some elevated relative risk estimates, most were not statistically significant, and there were no consistent patterns across duration of use. The present data add to the body of evidence that indicates that oral contraceptive use does not adversely affect the risk of breast cancer in older women; the data are inadequate to clarify the effect in younger women.


Breast cancer risk factors among black women and white women: similarities and differences. To further explore whether breast cancer risk factors are the same for black women and white women, the authors investigated several biologic, cultural, and social factors in a 1980-1982 case-control study of non-Hispanic black subjects (490 cases, 485 controls) and non-Hispanic white subjects (3,934 cases, 3,901 controls) aged 20-54 years. Logistic regression analyses indicated that blacks and whites shared four risk factors at a comparable magnitude (age at first full-term birth, parity, surgical menopause, and history of benign breast disease). For two observed risk factors, the magnitude (breast feeding) and pattern (family history of breast cancer) of the relation were different in blacks and whites. The relative risks of breast cancer among black women who had first-degree relatives (odds ratio (OR) = 1.61) and second-degree relatives (OR = 1.71) with breast cancer were similar, whereas the relative risk among white women who had first-degree relatives (OR = 2.16) was distinctly larger than for those who had second-degree relatives (OR = 1.44) with breast cancer. The relation of early age at menarche appeared negligible for blacks although significant for whites aged 12 and under (OR = 1.26). The results also indicated that natural menopause, oral contraceptive use, and cigarette smoking may have different, and more complex, relations to breast cancer among blacks and whites.


Improved ascertainment of cardiovascular malformations in infants with Down's syndrome, Atlanta, 1968 through 1989. Implications for the interpretation of increasing rates of cardiovascular malformations in surveillance systems. Several birth defects surveillance systems have shown an upward trend in the birth prevalence of several congenital cardiovascular malformations. Improvements in clinical ascertainment have been suggested as an explanation for this increase. For several decades, 40-50% of infants with Down's syndrome have been reported to have cardiac defects associated with the unbalanced genotype. Therefore, secular changes in the frequency of ascertained cardiovascular malformations among infants with Down's syndrome in surveillance systems could shed light on improvements in the ascertainment of these defects. The authors examined changes in the frequency of ascertained cardiovascular malformations among 532 cases of Down's syndrome recorded in the Metropolitan Atlanta Congenital Defects Program from 1968 through 1989. Overall, 33% of the cases have reported cardiovascular malformations. However, the frequency of these defects in Down's syndrome infants increased dramatically from about 20% in the early 1970s to more than 50% in the late 1980s (p = 0.0001). This upward trend was seen for all major categories of cardiac defects and persisted after the cases were stratified by race, sex, maternal age, hospital of birth, birth weight, and gestational age. These results show improvement in the ascertainment of cardiovascular malformations among Down's syndrome infants in a surveillance population. They are also consistent with the hypothesis that the increasing rates of cardiac defects are related, at least in part, to improved ascertainment of these defects in the population.


Association of serum albumin with blood pressure in the normative aging study. Little is known regarding serum albumin's epidemiologic relation to chronic disease. The relation of serum albumin to blood pressure was assessed in a longitudinal study of men who have been seen at 3- to 5-year intervals since the early 1960s. The authors analyzed data from over 20 years of observation using cross-sectional multiple regression models of blood pressure that allow for the correlation between repeated measures on the same individual (GLMIC models), longitudinal GLMIC models that incorporate terms for the interaction of time with serum albumin at baseline, and models of the slope of individuals' blood pressure over time. Serum albumin levels were found to have a consistently strong relation with both systolic blood pressure and diastolic blood pressure in the cross-sectional GLMIC models only. This relation did not change appreciably when covariates for age, body mass index, alcohol ingestion, smoking, serum calcium, hematocrit, heart rate, and antihypertensive medications were added. A rise in serum albumin of 1 g/dl was associated with 1.79-mmHg and 0.91-mmHg increases in systolic blood pressure and diastolic blood pressure, respectively. This phenomenon may be related to experimental studies linking tryptophan, the only amino acid to bind noncovalently to serum albumin, to a blood pressure-lowering effect mediated by promotion of 5-hydroxytryptamine synthesis in the brain.


Obesity and body fat distribution in relation to the incidence of non-insulin-dependent diabetes mellitus. A prospective cohort study of men in the normative aging study. The relation between the abdominal accumulation of body fat, total-body adiposity, and blood glucose level and the risk of non-insulin-dependent diabetes mellitus was evaluated prospectively among 1,972 male participants in the Department of Veterans Affairs Normative Aging Study cohort. The risk of non-insulin-dependent diabetes mellitus was assessed by means of the proportional hazards model; 226 cases of diabetes occurred among the 1,972 men (mean age at entry, 41.9 years; range, 22-80 years) over 35,496 person-years of observation. The relation of body mass index to diabetes risk was partly explained by body fat distribution; after adjusting for age, the ratio of abdominal circumference to hip breadth, and cigarette smoking, men in the top tertile for body mass index had a 1.3-fold greater risk of diabetes than did men in the lowest tertile (95% confidence interval 0.9-1.8). Moreover, after adjusting for age, body mass index, and cigarette smoking, men in the top tertile for the ratio of abdominal circumference to hip breadth had a 2.4-fold greater risk of diabetes than did men in the lowest tertile (95% confidence interval 1.7-3.7). When blood glucose was analyzed as a continuous outcome variable, the findings were consistent, i.e., a positive association with abdominal fat independent of total-body adiposity. These results confirm previous reports of a prospective relation between abdominal adiposity and the risk of diabetes and provide prospective evidence of a relation between blood glucose levels and both body fat distribution and obesity.


Tracking of serum fatty acid composition: a 6-year follow-up study in Finnish youths. The composition of fatty acids in serum cholesteryl esters was analyzed with gas chromatography in 759 Finnish boys and girls aged 3-18 years in 1980 and again in the same subjects in 1983 and in 1986. The mean percentage of linoleate (18:2 n-6) increased from 50.85% in 1980 to 52.60% in 1986, while there was a decrease in myristate (14:0), palmitate (16:0), and eicosapentaenoate (20:5 n-3). The percentage of oleate (18:1) did not change. The stability (tracking) of cholesteryl ester fatty acid composition was examined by calculating linear correlation coefficients among the percentages of each fatty acid at the three study points. For linoleate, 3- and 6-year tracking correlations were 0.59-0.61 and 0.50, respectively; they were of about the same magnitude for arachidonate (20:4 n-6) and lower for the other fatty acids. Results indicate that the serum cholesteryl ester fatty acid composition has somewhat lower tracking than the total cholesterol concentration. The changes in the mean fatty acid composition of the study population obviously reflect a shift from saturated to unsaturated dietary fats.


Is there etiologic heterogeneity between upper and lower neural tube defects? Neural tube defects are thought to arise from two different embryologic mechanisms depending on the level of the defect: neurulation defects associated with anencephaly and upper spina bifida and canalization defects associated with lower spina bifida. To investigate whether the risk profiles of neural tube defect cases differ according to the level of the defect, the authors examined data from the Atlanta Birth Defects Case-Control Study. Cases were infants live- or stillborn from 1968 to 1980 with these defects, and controls were infants without defects randomly selected and frequency matched to cases by race, birth year, and hospital of birth. By multivariate polychotomous logistic regression, 1,186 controls were compared with cases: 145 with anencephaly, 59 with upper spina bifida (cervical/thoracic lesions), and 100 with lower spina bifida (lumbar/sacral lesions). Infant's sex and sibling recurrence of neural tube defects were the only factors for which the case subgroups significantly differed in risk. The risks associated with selected maternal exposures during the first trimester of pregnancy did not differ among the case subgroups. Although these results do not support the concept that upper and lower neural tube defects differ in risks from exogenous factors, differences in sibling recurrence and in risks by sex between the two groups suggest an underlying heterogeneity in genetic susceptibility factors.


Epidemiology and long-term consequences of hepatitis delta virus infection in the Yucpa Indians of Venezuela. To define better the epidemiology and clinical impact of hepatitis delta virus (HDV) infection among hepatitis B virus (HBV) carriers in less developed countries, the authors prospectively studied a cohort of 216 Yucpa Indian HBV carriers in Venezuela. HBV carriers were followed regularly between 1983 and 1988 by physical examination, laboratory testing for liver enzymes and HBV and HDV markers, and epidemiologic history. Among the cohort, 74 (34%) were initially positive for HDV infection, and 35 additional persons became infected during the study. Risk factors for new HDV infection included living in southern Yucpa villages; being young adults (15-19 years) or young children (1-9 years), and living in a household with a person with acute HDV infection. Persons with HDV infection were at high risk of developing chronic liver disease; 56% of HDV-infected persons had moderate-to-severe chronic liver disease at the end of the study compared with none of the HBV carriers without HDV infection. Mortality rates were 6.9% and 8.8% per year, respectively, among initially HDV-positive HBV carriers and those with new HDV infection, because of rapidly progressive chronic liver disease and fulminant hepatitis; mortality was significantly lower in HBV carriers without HDV infection and in non-HBV carriers. HDV superinfection is a devastating disease in HBV carriers in tropical South America. Prevention of HBV infection with hepatitis B vaccine is the best available tool to reduce the impact of this problem.


Social intervention and the elderly: a randomized controlled trial. A randomized controlled trial was set up in 1985 to test the effect of social intervention over 3 years among elderly people, aged 75 and above, living alone. The sampling frame was the age/sex register of a large group practice of 12 general practitioners serving the town of Melton Mowbray, Leicestershire, England, with a list size of approximately 32,000 patients. A total of 523 elderly people living alone in 1985 were identified, interviewed, and randomized into experimental and control groups. A lay worker offered the experimental group (n = 261) individual packages of support that aimed at enhanced social contacts. The outcome measures, approximately 3 years later in 1988, were mortality; changes in physical status; demand for medical, paramedical, social, and voluntary services; and changes in a number of subjective variables (morale, loneliness, and self-perceived health). No significant differences were found for any of the variables with the exception of self-perceived health status, where the experimental group showed significantly greater improvements than did the control group. More importantly, half the elderly in this sample declined several offers of help.


Air pollution and school absenteeism among children in Mexico City. To determine the acute effects of ozone exposure, the authors conducted a short follow-up study of respiratory illness in a population of 111 preschool children frequently exposed to ozone levels that regularly exceed 0.120 parts per million (ppm). The children attended a private kindergarten in the southwestern part of Mexico City. Parents completed a questionnaire on demographic data, medical history, and potential sources of indoor air pollution. To determine the relation of ozone and respiratory-related school absenteeism, the authors used a logistic regression model for longitudinal data. During the 3-month follow-up, 50% of the children had at least one respiratory-related absenteeism period, and 11.7% had two or more. Children exposed for 2 consecutive days to high ozone levels (> or = 0.13 ppm) had a 20% increment in the risk of respiratory illness. For children exposed for 2 consecutive days to a high ozone level and the previous day to low temperature (< or = 5.1 degrees C), the risk reached 40% (odds ratio = 1.44, 95% confidence interval 1.37-1.52). This study suggests that ozone exposure might be positively associated with the risk of respiratory illness in children and that it may have an interactive effect with low temperature exposure.


Relationship of plasma alpha tocopherol to index of clinical severity in individuals with sickle cell anemia. Several parameters of micronutrition related to antioxidant activity are reduced in individuals with sickle cell anemia (SCA). The data presented here suggest that vitamin E, specifically alpha tocopherol, has a significant correlation (r = -0.38, P < 0.04) with a retrospective survey of clinical events and a significant correlation with a prospective survey of clinical events (r = -0.42, P < 0.03). The survey of clinical events score takes into account important vaso-occlusive manifestations in SCA. Differences in plasma vitamin E levels explained about 15% of the variability in the clinical manifestations of SCA in the population studied. Previously reported data from our lab suggests that the differences in alpha tocopherol levels are not related to dietary intake. Vitamin E may play an important role in modulating the ability of sickle hemoglobin containing erythrocytes to produce vaso-occlusion. Alternatively, it may simply be a marker of disease activity. Studies are ongoing at our center to determine if the relationship of alpha tocopherol to clinical events is causal.


Cytogenic characterization of primary refractory anemia. Refractory anemia (RA) is the only myelodysplastic syndrome (MDS) devoid of quantitative marrow diagnostic criteria. The diagnosis rests mainly on the subjective identification of qualitative abnormalities according to the French-American-British criteria (FAB) involving one or more bone marrow hematopoietic cell lineages. The occurrence of nonrandom chromosome abnormalities remains the hallmark of the disease and the only means of investigation which confirms the disease objectively. With the purpose in mind to further characterize RA among MDS, we have undertaken a prospective high resolution banding chromosome analyses of bone marrow cells in patients with primary refractory anemia (PRA) with the aim of defining a cytogenetic phenotype and of assessing the clinical relevance of clonal abnormalities at initial diagnosis. Of 39 patients consecutively referred for chromosome analyses with a diagnosis of RA according to the FAB criteria, 27 patients had PRA and fulfilled our criteria for adequate chromosome analyses. Median age was 68 years. Fourteen of 27 patients (52%) had clonal chromosomal abnormalities at diagnosis. None of the patients showed a complex karyotype; 9/14 (64%) had a mixture of normal and abnormal cells. Interstitial or terminal deletions, involving chromosomes 5, 6, 7, 9, 11, 12, and 20, were found in 11/14 (79%) of the patients. Comparison of survival between patients with and without abnormalities showed no difference. The presence of clonal abnormalities did not predict transformation to acute myeloblastic leukemia (AML) nor was it associated with poor survival. In this study, patients with PRA were found to have a predominant pseudodiploid karyotypic pattern characterized by interstitial and/or terminal deletions as opposed to derivatives, specific and non-specific balanced translocations, or other structural and numerical abnormalities. We were unable to reveal any prognostic significance to the presence of these clonal abnormalities at initial diagnosis.


Essential thrombocythemia in pregnancy: platelet count and pregnancy outcome. We report our experience of 4 successful pregnancies (including a pair of twins) in 3 women who have essential thrombocythemia (ET). All of the patients had a significant fall in platelet count (> 20% of non-pregnant state) during the course of the pregnancy. A review of the literature and our own experience suggests that the degree of platelet count reduction may be correlated with pregnancy outcome. Close monitoring of the platelet count is useful in the management of these cases.


Reduced erythropoietin secretion in senile anemia. To investigate the etiology of the age-related decrease in hemoglobin (Hb) concentration, we measured serum erythropoietin (EPO), serum iron, total iron binding capacity, and serum ferritin levels in 247 elderly subjects aged 60-99 years. EPO levels were determined by radioimmunoassay. An age-related increase in the serum EPO concentration (r = 0.220; P < 0.01) and a significant inverse relationship between EPO and Hb concentrations were found in normal elderly subjects without anemia (r = -0.302; P < 0.001), but not in 111 younger controls. Serum EPO levels were slightly higher in elderly subjects with pre-anemic iron deficiency than in the normal elderly subjects (P < 0.05). These results suggest that the EPO secretion is accelerated in the elderly even though the Hb remains above 12.0 g/dl, probably as a compensatory mechanism for peripheral tissue hypoxia. An inverse relationship between the EPO and Hb concentrations was found in the elderly subjects with iron deficiency anemia, but not in those with unexplained senile anemia. The changes of EPO levels were also assessed in 20 elderly subjects who had developed anemia when reviewed after 12 months. Serum EPO levels increased in relation to the decrease in Hb concentration in those with iron deficiency anemia, but not in those with unexplained senile anemia. Reduced EPO secretion thus seems to play a role in the progression of unexplained senile anemia, and recombinant human EPO may possibly be effective for treating this type of anemia by mobilizing excess iron.


Interleukin-2 production by primary adult T cell leukemia tumor cells is macrophage dependent. We have investigated the cellular requirements for IL-2 production by autocrine proliferating tumor cells from four patients with adult T cell leukemia (ATL). Cultures of these ATL cells both produced endogenous IL-2 protein in the absence of added mitogen and proliferated at higher levels when exogenous recombinant IL-2 was added. Depletion of macrophages in the tumor cell cultures resulted in a sharp decline in tumor cell IL-2 production, while re-addition of macrophages reconstituted this response. Macrophage-derived factors including IL-6 and IL-1 also reconstituted IL-2 production in these macrophage depleted cultures. These results raise the possibility that macrophages may play a central role in HTLV-I mediated immortalization of T cells.


Angiodysplasia and von Willebrand's disease type IIB treated with estrogen/progesterone therapy. The association between angiodysplasia and von Willebrand's disease was first reported in 1967. The cases reported to date have involved patients with type I and IIA von Willebrand's disease. We report a patient with type IIB von Willebrand's disease who suffered gastrointestinal bleeding attributable to gastric angiodysplasia. The patient underwent endoscopic electrocautery acutely and has been treated long-term with estrogen/progesterone therapy. She has suffered no recurrent gastrointestinal bleeding at over 11 months of follow-up. We suggest hormonal therapy as an alternative to repeated blood product transfusion or extensive surgical resection in patients with von Willebrand's disease and gastrointestinal bleeding from angiodysplasia.


Proliferation of abnormal bone marrow histiocytes, an undesired effect of granulocyte macrophage-colony-stimulating factor therapy in a patient with Hurler's syndrome undergoing bone marrow transplantation. Granulocyte macrophage-colony-stimulating factor (GM-CSF) has shown promise as a means of alleviating leukopenia associated with a wide variety of disorders. It is currently undergoing evaluation as an adjunct to bone marrow transplantation but its use in patients with metabolic disorders, such as Hurler's syndrome (HS), has not been explored. We followed bone marrow morphology in a 2-year-old male with HS who received up to 8 micrograms/kg GM-CSF per day because of failure of allogeneic bone marrow engraftment. Both premortem and postmortem bone marrow sampling revealed almost complete replacement of the marrow space by sheets of histiocytes demonstrating metachromatic cytoplasmic granules. Such cells were present in far greater numbers than are usually seen in untreated patients with HS or patients with HS undergoing successful bone marrow transplantation without GM-CSF. Moreover, the in vitro culture of bone marrow from a second HS patient showed a GM-CSF dose-related increase in colony formation up to a dose of 250 units/ml. Microscopic examination of these colonies showed a high percentage of histiocytes identical to those seen in the patient's bone marrow. These observations suggest that caution should be exercised when considering administration of CSFs to patients with HS and similar metabolic storage diseases.


Intrathoracic extramedullary hematopoietic tumor in hemoglobin H disease. We report a Chinese patient with hemoglobin H (Hb H) disease who developed intrathoracic extramedullary hematopoiesis (EMH) 17 years following splenectomy for a blunt abdominal injury. The patient initially presented with extreme hyperbilirubinemia and multiple intrathoracic tumors. Hb H disease was diagnosed after investigation, and the marked jaundice, which declined gradually after supportive treatment, was attributed to his chronic hemolysis superimposed on an acute hepatitis C virus infection. A biopsy of the intrathoracic tumors revealed an EMH. Intrathoracic EMH, which is usually encountered in patients with beta-thalassemia and hereditary spherocytosis, has never been reported in Hb H disease. In areas where thalassemia is prevalent, EMH should be considered in the differential diagnosis of patients who have chronic anemia with asymptomatic intrathoracic tumor to avoid unnecessary surgical interventions.


Adult T-cell leukemia developing during immunosuppressive treatment in a renal transplant recipient. We report a case of a 32-year-old male, an asymptomatic carrier of human T-cell leukemia virus type 1 (HTLV-1), who underwent a renal transplantation and developed adult T-cell leukemia (ATL) during the course of posttransplant immunosuppressive treatment. He was treated with combination chemotherapies consisting of cyclophosphamide, vincristine, doxorubicin, prednisolone, cisplatin, cytosine arabinoside, etoposide, and methyl-prednisolone, without any improvement. Bestrabucil (KM2210), a conjugate of chlorambucil and estradiol, was administered as an alternative therapy; this therapy successfully suppressed his leukemic cell growth, and partial remission was achieved. Posttransplant immunosuppressive therapy with prednisolone, mizoribine, and cyclosporin A might have been the predominant cause of the transition from an asymptomatic HTLV-1 infection to overt ATL. A careful approach is required with HTLV-1 asymptomatic carriers who need organ transplantation followed by immunosuppressive treatment.


Expert psychiatric evidence in sexual misconduct cases before state medical boards. The growing problem of physician sexual misconduct has captured the attention not only of the medical and legal communities, but of the public as well. State medical boards, administrative agencies with generous rules of evidence and varying levels of expertise, face the difficult task of responding to patients' allegations of physician sexual abuse. This Article, based in large part on the author's survey of current state medical board practice, reveals an increasing reliance on expert psychiatric testimony to explain the behavior of complainants and accused physicians. Drawing analogies from the use of psychiatric evidence in child sexual abuse cases, the author examines the factors that boards must consider in determining the admissibility of expert testimony in physician sexual misconduct cases, and calls upon states to establish clear evidentiary rules to govern the use of such testimony in administrative hearings.


Access to medical care for HIV-infected individuals under the Americans with Disabilities Act: a duty to treat. In 1990, Congress enacted the Americans with Disabilities Act (ADA). This Note examines the legislative history of the ADA and uncovers Congress's intent to impose a duty on health care providers to treat people with disabilities unless an individual poses a "direct threat" to the health or safety of others. This Note posits that, with the passage of the ADA, Congress imposed a statutory duty on health care providers to give care to people infected with HIV who qualify under the statute. This Note concludes that while the "direct threat" exception may lessen the impact of the ADA, those infected with HIV should enjoy greater access to health care than ever before.


Short-sheeting the psychiatric bed: state-level strategies to curtail the unnecessary hospitalization of adolescents in for-profit mental health facilities. Over the past decade, there has been an increase in the hospitalization of minors in private, for-profit, psychiatric facilities. This increase suggests a tension between what is medically necessary and what is financially desirable. This Note discusses the hospitalization of minors in private, for-profit, mental health facilities and its attendant implications. This Note then examines various state efforts aimed at protecting minors from inappropriate psychiatric hospitalization. Finally, while there is no catch-all solution to the problem, this Note offers specific recommendations for reforming the for-profit psychiatric industry.


Increasing survival of extremely low birthweight infants in Alaska. The survival and characteristics of extremely premature infants with a birthweight between 500 and 750 grams, who were treated at Providence Hospital newborn intensive care unit, were reviewed over the years 1987 to 1989. Forty infants were admitted and treated. Survival increased from 21 percent in 1987, 47 percent in 1988 to 82 percent in 1989. Changes in perinatal and neonatal factors over the three years were reviewed and comparisons between survivors and non-survivors were analyzed. Stepwise regression analysis revealed significant increases in the incidence of chorioamnionitis and birthweight over the period. Increased survival was noted even when infants from 1989, who received artificial surfactant, were excluded (survival increased from 21 percent in 1987 to 75 percent in 1989). Recent literature on extremely low birthweight infants, including neurodevelopmental outcome, is reviewed. Survival of extremely low birthweight infants in Alaska is increasing because of multiple changes in obstetrical and pediatric practices.


Apnea of prematurity: theophylline v. caffeine. During a fifteen month period, 401 two channel (heart rate and respiratory impedance), 12 hour pneumocardiograms on 277 preterm infants were performed. Each pneumocardiogram was evaluated according to the following set of criteria: prolonged apnea (apnea > 19 seconds or shorter if associated with heart rate of < 80bpm for > 2 seconds or observed cyanosis); short apnea (apnea 10-19 seconds); periodic breathing (normal respiratory pattern interrupted by > 2 breathing pauses of > 5 seconds during > 1 minute duration). Apnea density was used as prime measure in determining abnormal pneumocardiograms and was defined by total apnea time (seconds) x 100 divided by recording time while periodic breathing index defined by total periodic breathing time (minutes) x 100 divided by recording time. Sixty infants (24%) had apnea densities > or = 5 which prompted therapy with theophylline. Sixteen of these infants (27%) failed to resolve their apnea within 7 days (apnea density > or = 3) and were placed on caffeine citrate. Caffeine decreased the apnea density of fourteen of these infants (88%) to 0.8 (95% CI; 0-2.3). Efficacy of both methylxanthines to normalize the pneumocardiogram was similar (p = 0.5). Persistent apnea unresponsive to theophylline may respond to orally administered caffeine citrate.


Escherichia coli F0F1-ATPase. Residues involved in catalysis and coupling. The molecular biological approach has provided important information toward understanding the complexities of the F0F1 ATPase. This article focuses on our recent results on the ATPase catalytic site contained in the beta subunit and the role of the gamma subunit in regulation of proton transport. We used a combination of affinity labeling and mutagenesis to locate several residues of the alpha and beta subunits in the catalytic site. Adenosine triphosphopyridoxal (AP3-PL) labeled beta Lys-155, beta Lys-201 and alpha Lys-201, suggesting that they are near the gamma-phosphate moiety of ATP. Turning to a mutagenesis approach we demonstrated that the two conserved residues, beta Lys-155 and beta Thr-156 in the glycine-rich sequence, are essential for catalysis. Finally, using pseudorevertant analysis, we positioned residue beta Gly-149 (also in the glycine-rich sequence) in proximity to beta Ser-174, beta Glu-192 (binding site for DCCD), and beta Val-198 (only three residues away from the AP3-PL binding site, beta Lys-201). Genetic studies suggested that the gamma subunit plays a role in regulation of catalysis and its coupling with proton conduction. We found that four mutations in the carboxyl-terminal region (gamma Gln-269-->Leu, gamma Gly-275-->Lys, gamma Thr-277-->end, or frameshift) had similar membrane ATPase activities but different ATP-dependent proton pumping and growth by oxidative phosphorylation. These results suggested a perturbation in the coupling between catalysis and proton translocation. We were able to clearly define the "uncoupling" by introducing mutations in the amino-terminal region of the gamma subunit. We were led to gamma Met-23-->Lys and Arg which resulted in an enzyme still regulated by delta microH+, but with profoundly inefficient coupling between ATPase catalytic sites and proton translocation in both ATP-dependent proton pumping and delta microH(+)-driven ATP synthesis. Second-site mutations in the carboxyl-terminal region of the gamma subunit reversed this effect.


The alpha 3 beta 3 and alpha 1 beta 1 complexes of ATP synthase. Two catalytic structures of H(+)-motive ATP synthase (Fig. 1), the alpha 3 beta 3 oligomer (M(r) = 319,581) and alpha 1 beta 1 promoter (M(r) = 106,527) (Fig. 2), were isolated using high pressure liquid chromatography (Fig. 3) and polyacrylamide gel electrophoresis (Figs. 4 and 5). These were reconstituted from the alpha and beta subunits of thermophilic F1 (TF1), and the alpha 3 beta 3 oligomer was also crystallized. Common to both F1 and the alpha 3 beta 3 oligomer were the nucleotide specificity, the two Km values, the presence of protomer-oligomer activities, and the one-hit--one-kill phenomenon. A synchrotron experiment on the ATP hydrolysis cycle revealed the dynamic shrinkage and expansion of F1(44) that correspond, respectively, to the ATP-induced association and ADP-induced dissociation of the alpha 3 beta 3 oligomer. The oligomer, like mitochondrial F1 and TF1, exhibited two kinds of ATPase activity: one was cooperative and was inhibited by only one inhibitor per hexamer, and the other was inhibited by three inhibitors per hexamer.


Study of the lipid-protein interaction of F ATPases. Mg2+ may play a role in altering the lipid fluidity of the bilayers which would induce a change in conformation of the F0 portion of the H(+)-ATPase complex. This change could be transmitted to the soluble F1 portion, the conformation of which is in turn altered, resulting in higher enzymic activity. In addition to mitochondrial H(+)-ATPase, similar Mg2+ effects on the reconstitution of chloroplast H(+)-ATPase and other intrinsic membrane proteins have also been observed in our laboratory.


Structure/function analysis of yeast mitochondrial ATP synthase subunit 8. Subunit 8 of yeast mitochondrial ATP synthase is a small hydrophobic component of the membrane-associated F0 sector. Structure/function relations in subunit 8 were studied by focusing on three structural domains: a highly conserved NH2-terminal region, a central hydrophobic region (previously suggested to be a transmembrane stem), and a COOH-terminal region bearing a conserved array of three positively charged residues. A combined approach was used, which encompasses site-directed mutagenesis, in vitro import and assembly tests, and an in vivo allotopic expression system (using host cells unable to synthesise subunit 8 in mitochondria). The results indicate that the NH2-terminal region of subunit 8 is involved functionally in the F0 sector. As the central hydrophobic region can functionally tolerate the introduction of multiple, positively charged residues (which abolishes the proteolipid solubility characteristics of the entire subunit), the role of this hydrophobic region as a transmembrane stem is brought into question. Each of the three positively charged residues toward the COOH-terminus of subunit 8 is required for the efficient assembly of this subunit into the F0 sector. Removal of the more proximal charged residues Arg37 or Arg42 has a more severe impact on subunit 8 assembly than does removal of the most distal residue Lys47 in terms of both in vitro import and assembly as well as the ability of the subunit 8 variant to function in mitochondrial ATP synthase in vivo.


An endosomal-lysosomal pathway for degradation of amyloid precursor protein. We previously reported evidence for a lysosomal degradative pathway for APP and C-terminal fragments thereof, based on Western and immunocytochemical analysis of drug-treated cells. Here, we verify the existence of a lysosomal degradative pathway for APP using pulse chase immunoprecipitation analysis of drug-treated cells and fibroblasts with and without a known lysosomal hydrolase targeting defect. The results are consistent with the hypothesis that part or all of the beta-protein domain of APP is normally degraded by lysosomes. A mechanism for beta-protein deposition based on this data is hypothesized.


Amyloid beta/A4 precursor protein (APP) processing in lysosomes. Alzheimer's disease (AD) is characterized by the formation of senile plaques, the main component of which is amyloid beta protein. The processing of the amyloid beta/A4 protein has been implicated in the pathogenesis of AD. We have reported cathepsin B as a candidate APP secretase. By using APP-transfected COS-1 cells, we determined that the putative APP secretase, lysosomal cathepsin B, is involved in the constitutive processing of the precursor molecule. Digestion experiments demonstrated that cathepsin B cleaves the APP molecule into two fragments with molecular masses 115 kDa and 9 kDa, representing presumptive proteolytic fragments of constitutive processing.


Potential role of protease nexin-2/amyloid beta-protein precursor as a cerebral anticoagulant. The amyloid beta-protein precursor (APP) is the parent molecule to the amyloid beta-protein which is a major constituent of neuritic plaques and cerebrovascular deposits in Alzheimer's disease (AD). The protease inhibitor, protease nexin-2 (PN-2), is the secreted form of APP that contains the Kunitz protease inhibitor (KPI) domain. We reported that the predominant isoform of APP in human brain contains the KPI domain and is thus PN-2. Quantitation of PN-2/APP in various tissues revealed that it is primarily found in brain. Circulating blood platelets are another rich source of PN-2/APP. Platelet PN-2/APP is contained in platelet alpha granules and is secreted upon activation of platelets by physiological agonists. Protease inhibition measurements demonstrated that PN-2/APP is a potent inhibitor of intrinsic blood coagulation factor XIa. These findings suggest that PN-2/APP may play a role in the regulation of blood coagulation and platelets may serve as a systemic vehicle to deliver large amounts of this protein to sites of vascular injury. In addition, we propose that the rich, and relatively exclusive, investment of PN-2/APP in brain suggests that it may function locally as an intracerebral anticoagulant.


Sorting of chromogranin B into immature secretory granules in pheochromocytoma (PC12) cells. Two tyrosine sulfated proteins, chromogranin B and secretogranin II, are targeted into regulated secretory granules, which are stored until stimulation causes them to fuse with the plasma membrane. In PC12 cells, [35S]-sulfate labels chromogranin B, secretogranin II and proteoglycans just before they are sorted into the regulated and constitutive secretory pathways. Chromogranin B was secreted by both the regulated and constitutive secretory pathways. In contrast, very little secretogranin II was secreted constitutively. Formation of regulated and constitutive secretory vesicles from the trans Golgi network was reconstituted in vitro. Mechanically permeabilized PC12 cells released regulated and constitutive vesicles containing sulfated markers. At early chase times, chromogranin B was predominantly released from permeabilized cells in small vesicles that comigrated with constitutive secretory vesicles containing proteoglycans. At intermediate chase times the vesicles containing chromogranin B resembled immature secretory granules containing secretogranin II. At very long chase times chromogranin B and secretogranin II were found in mature secretory granules that did not escape the permeabilized cells in vitro. We conclude that chromogranin B is sorted into immature regulated secretory granules with lower efficiency than secretogranin II.


Selective degradation of cytosolic proteins by lysosomes. Lysosomes are able to internalize cellular proteins in a variety of ways. One pathway is selective for cytosolic proteins containing peptide sequences biochemically related to Lys-Phe-Glu-Arg-Gln (KFERQ). This pathway is activated in confluent monolayers of cultured cells in response to deprivation of serum growth factors and applies to approximately 30% of cytosolic proteins. We have reconstituted this lysosomal degradation pathway in vitro. Uptake and/or degradation is stimulated by ATP and a member of the heat shock 70-kilodalton protein family, the 73-kilodalton constitutive heat shock protein. Several possible mechanisms of selective protein transport into lysosomes and the possible relevance of this proteolytic pathway to the processing of the amyloid precursor protein are discussed.


The lysosomal system in neurons. Involvement at multiple stages of Alzheimer's disease pathogenesis. Disturbed lysosomal function may be implicated at several stages of Alzheimer's pathogenesis. Lysosomes and acid hydrolases accumulate in the majority of neocortical pyramidal neurons before typical degenerative changes can be detected, indicating that altered lysosome function is among the earliest markers of metabolic dysfunction in Alzheimer's disease. These early alterations could reflect accelerated membrane and protein turnover, defective lysosome or hydrolase function, abnormal lysosomal trafficking or any combination of these possibilities. Because APP is partly metabolized in lysosomes, early disturbances in lysosomal function could promote the production of abnormal and/or neurotoxic APP fragments within intact cells. Lysosomal abnormalities progressively worsen as neurons begin to degenerate. Based on existing literature on cell death, increased perturbation and instability of the lysosomal system may be expected to contribute to the atrophy and eventual lysis of the neuron. Finally, the release of hydrolase-filled lysosomes and lipofuscin aggregates from dying neurons accounts for the abundant deposition of enzymatically active acid hydrolases of all classes in the extracellular space--a phenomenon that may be unique to Alzheimer's disease. Acting on APP present in surrounding dystrophic neurites, cellular debris and astrocyte processes, dysregulated hydrolases may cleave APP in atypical sequential patterns, thereby generating self-aggregating protease-resistant APP fragments that can be only processed to beta-amyloid. Genetic mutations or posttranslational factors of APP should further enhance the generation of amyloidogenic fragments by a dysregulated lysosomal system. Given that very little, if any, beta-amyloid is detected intracellularly, yet extracellular beta-amyloid is very abundant, our data suggest that the final steps of APP processing and the generation of most beta-amyloid in the brain parenchyma occur extracellularly and may involve one or more lysosomal proteases.


[Pathogenesis of ruptures of the shoulder rotator cuff]. Rupture of the rotator cuff occurs exceptionally in a healthy cuff and almost always in a degenerated cuff. This degeneration may be either ischaemic and secondarily conflictual or primarily conflictual. There are two zones of conflict: anteromedial and superior, resulting in two clinical presentations: small anterosuperior ruptures which are initially very painful, but minimally disabling and large posterosuperior ruptures which are initially which are immediately disabling but minimally painful.


[Clinical examination of lesions of the rotator cuff]. Although unable to reach any formal conclusions, clinical examination remains an essential prerequisite in the assessment of a rotator cuff lesion, as it guides the diagnosis, evaluates the severity of the functional impairment and often the extent of the lesions and eliminates the differential diagnoses. The principal clinical tests of shoulder conflict are recalled, but as they are painful, they should only be performed at the end of a complete clinical examination.


[Radiological exploration of the shoulder rotator cuff]. Plain X-rays and Lecler's manoeuvre constitute the essential basic assessment in the diagnostic approach to lesions of the rotator cuff. The preoperative assessment of the lesions and the search for associated lesions are based on more or less invasive investigations. For many years, arthrography was the reference examination to establish a precise assessment, but was sometimes insufficient for the diagnosis of small partial non-communicating lesions and certain longstanding massive ruptures. Ultrasonography is an attractive non-invasive technique, but the quality of the results depends on the operator's experience. Although computed tomography and CT arthrography provide a perfect analysis of the anterior aspect of the cuff and evaluate the trophicity of the muscles, they are difficult to interpret, irradiating and sometimes incomplete. MRI, a non-invasive and non-irradiating technique, is the modality of choice due to its excellent contrast resolution and the possibility of multidirectional studies and a spatial resolution which is continually improved by new acquisition sequences and the use of better adapted surface coils.


[Ultrasonography of the shoulder: diagnosis of rupture of tendons of the rotator muscles]. After a short historical review of the use of ultrasonography to study shoulder rotator tendons, the technique of the investigation is described, as well as the main landmarks, findings indicative of complete rotator cuff tear, and limitations of ultrasonography in this indication. A number of issues concerning the preoperative workup are discussed. Results in a prospective study of 24 patients are reported. Findings upon ultrasonography, arthrography, and surgical exploration in these patients are analyzed comparatively. Sensitivity and specificity of ultrasonography for the diagnosis of complete rotator cuff tear (RCT) were 95% and 100%, respectively. These data show that ultrasonography is a reliable investigation for confirming, detecting, and evaluating RCT, although extensive experience with the technique is required.


[Contribution of gradient-echo MRI in the study of subacromial pathology: correlation between surgery and arthrography]. 30 asymptomatic volunteer subjects and more than 400 patients with suspected rotator cuff lesions were examined by MRI at 0.5 T using T2*-PD weighted gradient echo (T2-GEI) sequences. Its superiority over T2 spin echo imaging was established in previous studies. The results were compared to those of surgery in 87 cases and arthrography in 233 cases (associated with CT arthrography in 70 cases). In the operated patients, T2-GEI and arthrography correctly diagnosed 49 complete ruptures (CR). T2-GEI was found to be superior to arthrography for defining the real extent of the rupture, the degree of tendon retraction and the local muscular trophicity, essential information to define the therapeutic indications. In contrast, among 22 lesions of the long biceps tendon, correctly demonstrated by arthrography or CT arthrography, 5 intracapsular lesions were not detected by MRI. MRI was able to detect 8 lesions of the anterior labrum associated with a CR not demonstrated by arthrography. Lastly, among the 18 cases of partial inferior rupture (PIR), 6 partial superficial ruptures and 14 cases of inflammatory changes, correctly diagnosed by MRI, only 8 PIR were also demonstrated by arthrography. For the non-operated patients investigated by the two modalities (146 cases), T2-GEI and arthrography were concordant in 43 cases. In contrast, 103 intact cuffs on arthrography showed features on T2-GEI compatible with tendinopathy without rupture, bursitis and degenerative changes. In the absence of very fine surgical or histological correlations for these small lesions, it is impossible, at the present time, to determine the real sensitivity and specificity of MRI.


[Sub-acromio-deltoid bursography].

[Sub-acromio-deltoid bursography]. Subacromio-deltoid bursography may be diagnostic and/or therapeutic. As a diagnostic procedure, it opacifies the bursa, which may be more or less fused. It visualises the superior surface of the cuff, which may be fissured and it demonstrates exaggerated impression of the acromio-coracoid ligament. It is only indicated when arthrography of the shoulder is normal. As a therapeutic procedure, it constitutes a more sensitive test than Neer's test. When it is negative, the diagnosis of anterior conflict is doubtful. The addition of a corticosteroid prolongs the therapeutic effect and facilitates rehabilitation.


[X-ray guided puncture-aspiration of refractory calcifications of the shoulder]. Calcifying periarthritis of the shoulder may have either an acute or a chronic course. In both cases, direct puncture of the calcification shortens the natural history and facilitates and accelerates resorption in 50% of cases. The addition of a small amount of corticosteroid relieves the painful syndrome, with 80% good and very good results. The use of low doses of corticosteroid is particularly important in diabetics, patients with peptic ulcer and sportsmen. The puncture technique and the necessary precautions are described.


[Antero-internal impingement of the shoulder]. Anteromedial conflicts of the shoulder are situated in the subcoracoid or coracohumeral space, in the anterior part of the acromio-coracoid vault. The authors describe a first fibrous band connecting the anterolateral border of the acromio-coracoid ligament to the coraco-biceps tendon (Apoil) and a second deeper band between the superior border of the subscapularis and the insertion of the long head of biceps onto the labrum (Patte). The role of the vault varies according to constitution (length and direction of the coracoid process) and acquired factors (iatrogenic or traumatic); the role of the floor depends on numerous elements: traumatic sequelae (malunion), eccentricity of the humeral pivot, lesion of the rotator interval, variant of insertion of the anterior capsule, floating glenoid labra, anomalies of insertion of pectoralis minor. There are no pathognomonic signs, but Gerber's, Hawkin's and Yocum's signs are generally observed. Computed tomography and CT arthrography are currently the most reliable complementary investigations to demonstrate this type of conflict. This regional pathology is situated at the crossroads between pure conflictual mechanisms and hyperlaxity phenomena associated with subluxations.


[Clinical examination of shoulder instabilities]. We describe the clinical examination of the different kinds of acute instabilities of the shoulder. In the second part, we report the etiologies and the clinical signs of recurrent instabilities of the shoulder.


[Shoulder instabilities. Radiological evaluation]. In case of anteromedial instability of the shoulder, the radiological investigation should start by comparative plain films including glenoid lateral views looking for a lesion of the anteroinferior glenoid margin of the scapula. If plain films are normal, CT arthrography of the shoulder is indicated looking for a lesion of the anteroinferior glenoid labrum. If no traumatic abnormality is present, a plain CT scan may sometimes show glenoid dysplasia, which is frequently bilateral. Posterior dislocation of the shoulder is less common and is obvious on plain films. The inventory of the lesions is established by CT arthrography. In case of multidirectional instability, the radiological investigation determines the preferential direction of instability, generally by means of dynamic manoeuvres.


[Multidirectional instabilities and hyperlaxity of the shoulder]. Multidirectional instability is an unusual entity which is frequently missed in the context of unstable shoulder. The diagnosis of this condition may be difficult and is based on demonstration of basic anatomical lesions, usually acquired: capsular distension and damage to the inferior glenohumeral ligament responsible for the inferior component of the instability. Despite a suggestive clinical history, the positive diagnosis is based on a very detailed clinical and radiological examination, performed under general anaesthesia if necessary, in order to define the preferential direction of instability. Conventional and CT arthrography are of undeniable diagnostic and therapeutic value in the context of assessment. First-line treatment should be conservative. When surgery is indicated, it may consist of a combination of bone grafts and capsulorraphy, as described by C.S. Neer.


[Destructive arthropathy of the shoulder]. Destructive arthropathy of the shoulder consists of cartilaginous deterioration combined with subchondral osteolysis. The various diseases able to induce joint destruction (infection, neurological disease, chondrocalcinosis, tumour...) are excluded from this description which only concerns the forms with no obvious cause. Since the description of "senile haemorrhagic caries of the shoulder", several authors have reported, under various names, very similar diseases whose common denominator is destruction of the shoulder joint. The pathogenic factors remain unclear, but various theories have been proposed, involving mechanical factors secondary to lesions of the rotator cuff or suggesting the role of apatite microcrystals.


[Radiologic anatomy of the shoulder].

[Radiologic anatomy of the shoulder]. That proximal joint, the glenohumeral joint is difficult to examine by simple X-rays which explains the numerous lateral views proposed; it is essential to know the precise indications and respective value of each of these views. Arthrography generally combined with computed tomography is an excellent examination for the study of the glenoidal labrum and the capsular structures. In other indications, particularly for the study of the rotator cuff, it tends to be replaced by MRI.