In a woman with delayed puberty and short stature we should always think about and rule out Turner syndrome, whose diagnosis is made by karyotyping (45X0).

15-year-old female presenting with delayed menarche and short stature. She does not have intellectual disability. Which of the following genetic tests would be routinely used for the diagnosis of this patient:

Genetic testing in pediatric endocrine pathology.

In genetic endocrine diseases, genetic testing is necessary for a precise diagnosis, which will provide a better knowledge of the evolution and prognosis and also indicate the adequate therapy, targeting the precise etiopathogenesis of the disease. Genetic testing in endocrinology is often based on classical cytogenetic techniques, molecular cytogenetic analysis or molecular biology techniques. Genetic testing in disorders of sex development includes the karyotype and SRY gene analysis and depending on the presence of associated clinical signs and on the observations at paraclinical examination, these tests will be followed by chromosomal array techniques and NGS sequencing. In short stature, the decision to perform a genetic test is taken depending on clinical, paraclinical and imaging signs. In case of a short stature associated with a low weight/length for gestational age, genetic testing is proposed to evaluate a Russell-Silver syndrome or if the short stature is associated with other clinical signs (e.g. intellectual disability), chromosomal analysis by microarray is proposed. If the short stature is disproportionate, it is indicated to perform a next generation sequencing (NGS) of a panel of genes involved in skeletal dysplasia. If an endocrine cause for short stature is observed at the hormonal evaluation, it is indicated to test a panel of genes involved in these pathways. In genetic obesity, depending on clinical signs associated to obesity, it will be a more targeted genetic testing. If obesity is associated with intellectual disability or other nonspecific neurological changes, a chromosomal analysis by microarray will be indicated. If monogenic obesity is suspected, NGS testing will be indicated (as genes panel or whole exome or genome analysis). Genetic testing in endocrine diseases brings an etiological diagnosis, but a favorable cost-benefit ratio derives from an adequate indication of these tests, generally proposed in expert centers for rare endocrine diseases.

XXXY syndrome

Diagnosis Diagnosis of 48,XXXY is usually done by a standard karyotype. A karyotype is a chromosomal analysis in which a full set of chromosomes can be seen for an individual. The presence of the additional 2 X chromosomes on the karyotype are indicative of XXXY syndrome. Another way to diagnosis 48,XXXY is by chromosomal microarray showing the presence of extra X chromosomes. Chromosomal microarray (CMA) is used to detect extra or missing chromosomal segments or whole chromosomes. CMA uses microchip-based testing to analyze many pieces of DNA. Males with 48,XXXY are diagnosed anywhere from before birth to adulthood as a result of the range in the severity of symptoms. The age range at diagnosis is likely due to the fact that XXXY is a rare syndrome, and does not cause as extreme phenotypes as other variants of Klinefelter syndrome (such as XXXXY).

Genotype-Phenotype Analysis of 8q24.3 Duplication and 21q22.3 Deletion in a Chinese Patient and Literature Review.

Copy number variants (CNVs) are responsible for many patients with short stature of unknown etiology. This study aims to analyze clinical phenotypes and identify pathogenic CNVs in a patient with short stature, intellectual disability, craniofacial deformities, and anal imperforation. G-banded karyotyping and chromosomal microarray analysis (CMA) was used on the patient to identify pathogenic causes. Fluorescence in situ hybridization (FISH) was applied to explore the abnormal genetic origin. Literatures were searched using identified CNVs as keywords in the PubMed database to perform genotype-phenotype analysis. Cytogenetic analysis revealed a normal karyotype 46,XY. CMA detected a 6.1 Mb duplication at 8q24.3 and a 3.6 Mb deletion at 21q22.3. FISH confirmed that the abnormal chromosomes were inherited from paternal balanced translocation. We compared phenotypes of our patient with 6 patients with 8q24.3 duplication and 7 cases with 21q22.3 deletion respectively. A novel 8q24.3 duplication and 21q22.3 deletion was identified in a Chinese patient. Genotype-phenotype analysis demonstrated that patients with 8q24.3 duplication and 21q22.3 deletion had specific facial features, intellectual disability, short stature, and multiple malformations.

[Genetic and prenatal diagnosis of a pregnant women with mental retardation].

To conduct genetic testing and prenatal diagnosis for a pregnant women with growth retardation, severe mental retardation, and a history of adverse pregnancies. G-banded chromosome analysis, fluorescence in situ hybridization (FISH), and whole genome DNA microarray were used to analyze the patient and her fetus. The women was found to be a chimera containing two cell lines with 47 and 46 chromosomes, respectively. Both have involved deletion of 18q21.2q23. FISH analysis suggested that the cell line containing 47 chromosomes has harbored a chromosome marker derived from chromosome 15. The marker has contained chromosome 15p involving the SNRPN locus and part of 15q, which gave rise to a karyotype of 47,XX,del18q21.3,+ish mar D15Z1+ SNRPN+[82]/46,XX,del18q21.3[18]. Whole genome DNA microarray confirmed that a 3.044 Mb fragment from 15q11.2q12 was duplicated, which involved NIPA1, SNRPN and other 17 OMIM genes. Duplication of this region has been characterized by low mental retardation, autism, developmental delay. Meanwhile, there was a 17.992 Mb deletion at 18q21.33q23, which contained 39 OMIM genes including TNFRSF11A and PHLPP1. This fragment was characterized by mental retardation, developmental delay, short stature, and cleft palate. Whole genome microarray analysis confirmed that there was a 17.9 Mb deletion at 18q21.33q23, which has been implemented with mental retardation, general growth retardation, short stature, and cleft palate. After genetic counseling, the family decided to terminate the pregnancy at 21st week. Combined chromosome karyotyping, FISH, and whole genome DNA microarray can determine the origin of marker chromosomes and facilitate delineation of its correlation with the clinical phenotype.

Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case.

<bPurpose</b  Turner syndrome is a sex chromosomal aberration where majority of the patients have 45,X karyotype, while several patients are mosaic involving 45,X/46,XX; 46,X,i(Xq); and other variants. Cytogenetic analysis, karyotyping, is considered to be the "gold standard" to detect numerical and structural chromosomal abnormalities. In the recent years, alternative approaches, such as array comparative genomic hybridization (aCGH), have been widely used in genetic analysis to detect numerical abnormalities as well as unbalanced structural rearrangements. In this study, we report the use of karyotyping as well as aCGH in detecting a possible Turner syndrome variant. <bMethods</b  An apparent 16-year-old female was clinically diagnosed as Turner syndrome with premature ovarian failure and short stature. The genetic diagnosis was performed for the patient and the parents by karyotyping analysis. aCGH was also performed for the patient. <bMain Findings</b  Cytogenetic analysis of the patient was performed showing variant Turner syndrome (46,X,i(X)(q10)[26]/46,X,del(X)(q11.2)[11]/45,X[8]/46,XX[5]). The patient's aCGH result revealed that she has a deletion of 57,252kb of Xp22.33-p11.21 region; arr[GRCh37] Xp22.33-p11.21 (310,932-57,563-078)X1. Both aCGH and fluorescence in situ hybridization (FISH) results suggested that <ishort stature Homeobox-containing</i ( <iSHOX</i ) gene, which is located on Xp22.33, was deleted, though FISH result indicated that this was in a mosaic pattern. <bConclusion</b  In the recent years, aCGH has become the preferred method in detecting numerical abnormalities and unbalanced chromosomal rearrangements. However, its use is hindered by its failure of detecting mosaicism, especially low-level partial mosaicism. Therefore, although the resolution of the aCGH is higher, the cytogenetic investigation is still the first in line to detect mosaicism.

22q13 deletion syndrome

Diagnosis and management Clinical genetics and genetic testing Genetic testing is necessary to confirm the diagnosis of PMS. A prototypical terminal deletion of 22q13 can be uncovered by karyotype analysis, but many terminal and interstitial deletions are too small to detect with this method. Chromosomal microarray should be ordered in children with suspected developmental delays or ASD. Most cases will be identified by microarray; however, small variations in genes might be missed. The falling cost for whole exome sequencing may replace DNA microarray technology for candidate gene evaluation. Biological parents should be tested with fluorescence in situ hybridization (FISH) to rule out balanced translocations or inversions. Balanced translocation in a parent increases the risk for recurrence and heritability within families (figure 3).

Elective genetic and genomic testing

Genetic testing for a variety of disorders has seen many advances starting with cytogenetics to evaluate human chromosomes for aneuploidy and other chromosome abnormalities. The development of molecular cytogenetics involving techniques such as fluorescence in situ hybridization (FISH) followed, permitting the detection of more subtle changes in the karyotype. Techniques to determine the precise sequence of nucleotides in DNA by DNA sequencing, notably Sanger sequencing was developed in the 1970s. In the 1980s the DNA microarray appeared, permitting laboratories to find copy number variants associated with disease that are below the level of detection of cytogenetics but too large to be detected by DNA sequencing. In recent years the development of high-throughput or next-generation sequencing has dramatically lowered the cost of DNA sequencing permitting laboratories to evaluate all 20,000 genes of the human genome at once through exome sequencing and whole genome sequencing. A

22q13 deletion syndrome

Prototypical terminal deletion of 22q13 can be uncovered by karyotype analysis, but many terminal and interstitial deletions are too small. The availability of DNA microarray technology for revealing multiple genetic problems simultaneously has been the diagnostic tool of choice. The falling cost for the whole exome sequencing and, eventually, whole genome sequencing, may replace DNA microarray technology for candidate evaluation. However, fluorescence in situ hybridization (FISH) tests remain valuable for diagnosing cases of mosaicism (mosaic genetics) and chromosomal rearrangements (e.g., ring chromosome, unbalanced chromosomal translocation). Although early researchers sought a monogenic (single gene genetic disorder) explanation, recent studies have not supported that hypothesis (see Etiology). Signs and symptoms

Chromosome abnormalities in Indonesian patients with short stature.

Short stature is associated with several disorders including wide variations of chromosomal disorders and single gene disorders. The objective of this report is to present the cytogenetic findings in Indonesian patients with short stature. G-banding and interphase/metaphase FISH were performed on short stature patients with and without other clinical features who were referred by clinicians all over Indonesia to our laboratory during the year 2003-2009. The results of chromosomal analysis of ninety seven patients (mean age: 10.7 years old) were collected. The group of patients with other clinical features showed sex chromosome abnormalities in 45% (18/40) and autosomal abnormalities in 10% (4/40), whereas those with short stature only, 42.1% (24/57) had sex chromosome abnormalities and 1.75% (1/57) had autosomal abnormalities. The autosomal chromosomal abnormalities involved mostly subtelomeric regions. Results discrepancies between karyotype and FISH were found in 10 patients, including detection of low-level monosomy X mosaicism in 6 patients with normal karyotype, and detection of mosaic aneuploidy chromosome 18 in 1 patient with 45,XX,rob(13;14)(q10;q10).Statistical analysis showed no significant association between the groups and the type of chromosomal abnormalities. Chromosome abnormalities account for about 50% of the short stature patients. Wide variations of both sex and autosomal chromosomes abnormalities were detected in the study. Since three out of five patients had autosomal structural abnormalities involving the subtelomeric regions, thus in the future, subtelomeric FISH or even a more sensitive method such as genomic/SNP microarray is needed to confirm deletions of subtelomeric regions of chromosome 9, 11 and 18. Low-level mosaicism in normal karyotype patients indicates interphase FISH need to be routinely carried out in short stature patients as an adjunct to karyotyping.

18p-

Genetics 18p- describes a deletion of the short arm of chromosome 18. About half of the people with deletions have a breakpoint at the centromere. Those with it are said to have centromeric 18p-, and those without are said to have non-centromeric 18p-. Diagnosis Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays or birth defects. Diagnosis of 18p- is usually made via a blood sample. A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by microarray analysis. Increasingly, microarray analysis is also being used to clarify breakpoints. Prenatal diagnosis is possible via amniocentesis of chorionic villus sampling. MRI In some children without "classic" holoprosencephaly, microforms of holoprosencephaly may be noted on MRI, including missing olfactory tracts and bulbs and absent or hypoplastic corpus callosum. Treatment

Distal 18q-

Diagnosis Suspicion of a chromosome abnormality is typically raised due to the presence of developmental delays or birth defects. Diagnosis of distal 18q- is usually made from a blood sample. A routine chromosome analysis, or karyotype, is usually used to make the initial diagnosis, although it may also be made by microarray analysis. Increasingly, microarray analysis is also being used to clarify breakpoints. Prenatal diagnosis is possible using amniocentesis or chorionic villus sampling. Treatment At present, treatment for distal 18q- is symptomatic, meaning the focus is on treating the signs and symptoms of the conditions as they arise. To ensure early diagnosis and treatment, people with distal 18q- are suggested to undergo routine screenings for thyroid, hearing, and vision problems. History

Clinical Profiles and Genetic Spectra of 814 Chinese Children With Short Stature.

Data and studies based on exome sequencing for the genetic evaluation of short stature are limited, and more large-scale studies are warranted. Some factors increase the likelihood of a monogenic cause of short stature, including skeletal dysplasia, severe short stature, and small for gestational age (SGA) without catch-up growth. However, whether these factors can serve as predictors of molecular diagnosis remains unknown. We aimed to explore the diagnostic efficiency of the associated risk factors and their exome sequences for screening. We defined and applied factors that increased the likelihood of monogenic causes of short stature in diagnostic genetic tests based on next-generation sequencing (NGS) in 814 patients with short stature and at least 1 other factor. Pathogenic/likely pathogenic (P/LP) variants in genes, copy number variations, and chromosomal abnormalities were identified in 361 patients. We found P/LP variants among 111 genes, and RASopathies comprised the most important etiology. Short stature combined with other phenotypes significantly increased the likelihood of a monogenic cause, including skeletal dysplasia, facial dysmorphism, and intellectual disability, compared with simple severe short stature (<-3 SD scores). We report novel candidate pathogenic genes, KMT2C for unequivocal growth hormone insensitivity and GATA6 for SGA. Our study identified the diagnostic characteristics of NGS in short stature with different risk factors. Our study provides novel insights into the current understanding of the etiology of short stature in patients with different phenotypes.

[Diagnosis of a case with partial 9p trisomy by next generation sequencing].

To explore the genetic cause for a child featuring growth and mental retardation. Following conventional karyotyping analysis of the trio family, next generation sequencing (NGS) was carried out to explore the origin of the supernumerary marker chromosome. Fluorescence in situ hybridization (FISH) was used to confirm the result. The karyotypes of both parents were normal, while the proband was found to be 47,XX,+mar. NGS showed that the supernumerary marker has originated from chromosome 9p13.1p24.3 with a size of 39.77 Mb. FISH has confirmed the above finding. The 9p13.1-p24.3 trisomy probably underlies the abnormal phenotypes of the child. Cytogenetic analysis combined with NGS and FISH can provide accurate diagnosis for such disorders.

SYNGAP1-related intellectual disability

The majority of mutations are considered de novo, however cases of inheritance from both somatic mosaic and germ-line mosaic parents have been reported. Diagnosis Diagnosis is based on genetic testing, with the recommended testing approach being Chromosomal Microarray Analysis followed by an Intellectual Disability multigene panel or Whole Exome Sequencing. A diagnosis is established following the identification of a heterozygous pathogenic (or likely pathogenic) point mutation of the SYNGAP1 gene (present in approximately 89% of patients), a micro deletion of chromosome 6 incorporating SYNGAP1 (approximately 11% of patients), or a balanced translocation disrupting SYNGAP1. EEG monitoring frequently shows generalized epilepsy, predominantly in the occipital regions. Seizure onset usually occurs around 2 years of age. MRI is usually normal.

Case Report: Genetic Analysis of a Small Supernumerary Marker Chromosome in a Unique Case of Mosaic Turner Syndrome.

The aim of this study was to explore the source and morphology of a small supernumerary marker chromosome (sSMC) from karyotype analysis of a patient with a unique case of mosaic Turner syndrome. The study findings will provide technical reference and genetic counseling for similar cases. A female patient with 46,X,+mar karyotype was diagnosed by genetic karyotype analysis. Genetic methods including fluorescence <iin situ</i hybridization (FISH) and copy number variation sequencing (CNV-seq) based on low-depth whole-genome sequencing were used to explore the source and morphology of sSMC. FISH technology showed that 56.5% of the cells were X and 43.5% of the cells were XY. CNV-seq detection found that the sSMC was chrY, implying that the patient's karyotype was mos 45,X[58.6%]/46,XY[41.4%]. Retrospective karyotype analysis indicated that the female patient's sSMC was inherited from her father's small chrY. Customized FISH probe of Yq12 microdeletion was positive, indicating that the sSMC was a del(Y)(q12). Based on the results of genetic diagnosis, the specialist doctor gave a comprehensive genetic consultation and ordered regular follow-up examinations. The findings of the current study showed that the chromosome description of the unique Turner case was mos 45,X[56.5%]/46,X,del(Y)(q12)[43.5%]. FISH technology played a key role in diagnosis of mosaicism. The terminal deletion of mosaic chrY provided a scientific and an accurate explanation for masculinity failure and abnormal sexual development of the current case.

A unique combination of 17pter trisomy and 21qter monosomy in a boy with developmental delay, severe intellectual disability, growth retardation and dysmorphisms.

Microduplication at 17p13.3 and microdeletion at 21q22 are both rare chromosomal aberrations. The presence of both genomic imbalances in one patient has not been previously reported in literature. In this study, we performed a molecular diagnostic testing with a whole genome microarray on a 3-year-old boy with developmental delay, mental retardation and multiple malformations. A routine G-banding karyotype analysis was performed using peripheral lymphocytes. Chromosome microarray analysis (CMA) was done using Affymetrix CytoScan™ HD array. Genomic imbalances were further confirmed by multiple ligation-dependent probe amplification (MLPA). The result of karyotyping was normal but CMA detected a 9.8 Mb microduplication at 17p13.3-13.1 (chr17: 1-9,875,545) and a 2.8 Mb microdeletion involving 21q22.3-qter (chr21: 45,239,077-48,097,372). The imbalances were due to a balanced translocation present in patient's mother. The patient was characterized with short stature, profound developmental delay, non-verbal, intellectual disability as well as craniofacial dysmorphism, subtle brain structural anomaly and sparse scalp hair. This is the first patient reported with a combination of a microduplication at 17p13.3-13.1 and a microdeletion at 21q22.3-qter. Both genomic imbalances were undetected by conventional karyotyping but were delineated with CMA test. Synergistic effect from the two rare genomic imbalances is likely responsible for the severe clinical phenotypes observed in this patient.

The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication.

Copy number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. The CNVs have been associated with different clinical phenotypes such as learning disabilities, short stature, and intellectual disability. The chromosomal microarray analysis is an effective diagnostic method for identifying new CNVs and understanding their clinical effects. In this case report, a variation that has not been reported previously in the literature is presented. This case report will contribute to increasing the knowledge. The CNV (arr [hg19] 2q12.1q12.3 (103,368,824-107,946,062) x3) detected in the index case was also detected in her father and male sibling. Key Words: DNA, Copy number variation, Chromosomal duplication, Intellectual disabilities.

Partial and complete trisomy 14 mosaicism: clinical follow-up, cytogenetic and molecular analysis.

Trisomy 14 mosaicism is a rare chromosomal abnormality. It is associated with multiple congenital anomalies. We report a 15 year-old female with an unusual karyotype with three cell lines: 47,XX,+mar/47,XX,+14/46,XX. At six months old she had short stature, cleft palate, hyperpigmented linear spots in arms and legs and developmental delay. At present, she has mild facial dysmorphism and moderate mental retardation. Cytogenetic analysis was performed in peripheral blood lymphocytes and in the light and dark skin following standard methods. DNAarray - Oligo 180 k was carried out using Agilent Technologies and FISH analysis was accomplished using DNA BACs probes to confirm the result obtained by DNAarray. Methylation-Specific PCR (MS-PCR) of the MEG3 promoter and microsatellite analysis were performed. Microarray analysis confirmed partial trisomy 14 mosaicism; the marker chromosome was found to be from chromosome 14, the result was confirmed with FISH. Methylation (14q32.3) and microsatellite (14q11-14q32.33) analysis were carried out and UPD was discarded. The global result was: mos 47,XX,+del(14)(q11.2)[45]/47,XX,+14[10]/46,XX[45]. This is a unique case because of the coexistence of two abnormal cell lines, including one with +14 and another with +del(14)(q11.2). To our knowledge, only three patients have been reported with trisomy 14 and another abnormal cell line. The array analysis identified the marker chromosome and characterized the breakpoint. The del(14)(q11.2) does not seem to be related to any particular phenotypic characteristic of the patient; the clinical features of our patient observed until now, can be attributed to trisomy 14 mosaicism. Nevertheless, we cannot discard the manifestation of new symptoms related to her karyotype in the future.

Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review.

Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians. In this present study, we reported one case of pregnancy woman with trisomy 8 mosaicism. Noninvasive prenatal testing prompted an abnormal Z-score, but further three dimension color ultrasound result suggested a single live fetus with no abnormality. The phenotypic of the pregnant woman was normal. Based on our results, there were no abnormal initial myeloid cells (< 10<sup- 4</sup), which suggested that the patient had no blood diseases. The peripheral blood karyotype of the patient was 47,XX,+ 8[67]/46,XX [13], and karyotype of amniotic fluid was 46, XX. The next generation sequencing (NGS) result suggested that the proportions of trisomy 8 in different tissues were obviously different; and 0% in amniotic fluid. Last, the chromosomes of the patient and her baby were confirmed using chromosome microarray analysis (CMA), and the results were arr[GRCh37](8) × 3,11p15.5p13(230750-33,455,733) × 2 hmz and normal. This pregnancy woman was trisomy 8 mosaicism, but the phenotypic was normal, and also the fetus was normal. Carefully cytogenetic diagnoses should be performed for prenatal diagnose.

Genotype-first approach

Genotype-first assessment is becoming the standard approach for clinical diagnosis of complex heterogeneous diseases. Microduplication and microdeletion syndromes have a range of characteristics, including intellectual disability and developmental delay, which vary in severity making patients with these syndromes very difficult to diagnose. Since the development of next-generation sequencing technologies, clinicians have been able to use a genotype-first approach to group these patients based on their microdeletion or duplication and document the disease features present in these groups. Chromosomal microarray analysis, in particular, is being used clinically to assist in diagnosing patients with microdeletion and microdulplication syndromes. In diseases, such as Autism spectrum disorder (ASD), where differentiating patients into disease subtype groups based on phenotype is challenging, genotype-first studies allow the classification of patients into subtypes based on their genetics.

[Reflection of a case misdiagnosed as trisomy 21 syndrome by G-banded chromosomal karyotyping analysis].

To emphasize the clinical significance of copy number variations (CNVs) detection by describing a case misdiagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. A girl with obesity and short stature was diagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. Considering the discrepancy of her karyotype with her phenotype, genomic CNVs was detected by next-generation sequencing and the result was verified by quantitative PCR (qPCR). A microduplication of 16p11.2: 29 642 339-29 775 631 (133.292 kb) was detected. qPCR assay for QPRT and SPN located in the duplicated region confirmed the finding of CNVs assay. Meanwhile, her parents did not present similar duplication in 16p11.2. The 16p11.2 microduplication was a novel genomic structural variation in the girl, though it may not be associated with her clinical manifestations. Chromosomal microarray or next-generation sequencing-based CNVs detection can accurately determine the origin of small supernumerary marker chromosome and reduce the chance of misdiagnosis.

[Genotypic and phenotypic analysis of a patient with de novo partial monosomy 18p and partial trisomy 18q].

To explore the genetic cause for a patient with intellectual disability, short stature and multiple congenital anomalies, and to correlate the result with the clinical phenotype. Routine karyotyping analysis was carried out on GTG-banded metaphase chromosomes. Single nucleotide polymorphism (SNP) microarray was used to detect microdeletions or microduplications in the patient. Fluorescence in situ hybridization (FISH) was used to ascertain the origin of aberrant chromosomes. The karyotype of the patient was 46,XY,der(18), while both of his parents had a normal karyotype. SNP array identified a 1.23 Mb deletion at 18p11.32-pter (chr18: 136 227-1 370 501, hg19) and a 33.76 Mb duplication at 18q21.1-qter (chr18: 44 250 359-78 013 728, hg19) in the patient. Above finding was confirmed by dual-color FISH with one color for 18p and another for 18q. The patient presented with some common features of 18p deletion and 18q duplication including intellectual disability and growth retardation, in addition with some features of 18p deletion including pectus excavatum, short stature and growth hormone (GH) deficiency. The patient showed progressive improvement of stature with GH therapy. Comparison of patients with previously reported dup(18q)+del(18p) recombinations suggested that, even for patients with similar breakpoints, their phenotypes have ranged from normal to severe and there were no consistent findings. As aberrations involving double chromosomal segments often result in phenotypic variability, it has been difficult to correlate the genotype of our patient with his phenotype.

[Application of chromosomal microarray analysis for the diagnosis of children with intellectual disability/developmental delay and a normal karytype].

To assess the value of chromosomal microarray analysis (CMA) for the diagnosis of children with intellectual disability/developmental delay (ID/DD) but a normal karytype. Peripheral blood samples from 92 ID/DD patients were analyzed with CMA using Affymetrix CytoScan 750K arrays. The results were analyzed by ChAS v3.0 software. Eighteen cases (19.57%) were detected with abnormalities by CMA, among which 10 cases were diagnosed with microdeletion/microduplication syndromes. These included 2 Williams-Beuren syndromes, 2 Angelman syndromes, 2 Russell-Silver syndromes, 1 Smith-Magenis syndromes, 1 Wolf-Hirschhorn syndromes, 1 15q26 overgrowth syndrome and 1 Xq28 (MECP2) duplication syndrome. In addition, 8 cases were diagnosed with pathogenic copy number variations (pCNV). CMA can significantly improve the diagnostic rate for patients with ID/DD, which is of great value for the treatment of such children and guidance of reproduction for their parents. Therefore, CMA should become the first-line diagnostic test for patients with ID/DD.

A novel 1p33p32.2 deletion involving SCP2, ORC1, and DAB1 genes in a patient with craniofacial dysplasia, short stature, developmental delay, and leukoencephalopathy: A case report.

Microdeletion syndromes occur from deletion of 5Mb of a chromosome in approximately 5% of patients with unexplained intellectual disability. Interstitial microdeletions at bands 1p33 and 1p32.2 of the short arm of chromosome 1 are rare and have not been previously reported in relation to disease. We present a case of a 39-month boy with Pierre Robin sequence, development delay/intellectual disability, growth retardation, short stature, leukoencephalopathy, craniofacial dysplasia, and speech delay. The child was referred to the Child health care department in October 2014 for his delayed language development and aggravated aggression. Molecular diagnostic testing with G-band karyotyping was normal but clinical microarray analysis detected a 10 Mb microdeletion at 1p33p32.2. The patient received rehabilitation. Three candidate genes were pinpointed to the deleted area, including ORC1, SCP2, and DAB1. Phenotype-genotype analysis suggested that these three genes are likely to be responsible for the main phenotypes observed in the patient, such as microcephaly, growth retardation, short stature, leukoencephalopathy, and development delay/intellectual disability. The spectrum of phenotypes this case presented with are likely to be caused by 1p33p32.2 deletion which could represent a new microdeletion syndrome.

[Clinical and genetic analysis of a rare case with mosaic partial trisomy 5p syndrome].

To determine the size and origin of a small supernumerary marker chromosome (sSMC) identified in a patient featuring developmental retardation. High-throughput sequencing for copy number variation (CNV-seq) was carried out to delineate the sSMC identified upon G-banded chromosomal karyotyping. The genotype-phenotype correlation was explored by database retrieval and literature analysis. The patient was found to have a karyotype of mos 47,XX,+mar[36]/46,XX[23]. CNV-seq has identified a 18 Mb duplication at 5p14.1-p12 (hg19: 27,399,261-46,083,784)x2.6 with a mosaicism rate of approximately 60%. Patients with mosaic partial trisomy 5p may have extensive clinical manifestations, and the ratio of trisomy 5p cells is correlated with clinical severity of this syndrome.

A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability.

We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, and subtelomeric MLPA analysis. Subsequent genome wide array analysis was performed on DNA from blood and revealed a 1.1 Mb deletion in 14q32.2q32.31 (chr14:100,388,343-101,506,214; hg19). Subsequent carrier testing in the parents by array showed that the deletion had occurred de novo in the patient and that her paternal 14q32 allele was deleted. The deleted region encompasses the DLK1/GTL2 imprinted gene cluster which is consistent with the maternal UPD(14)-like phenotype of the patient. This rare, recurrent microdeletion was recently shown not to be mediated by low copy repeats, but by expanded TGG repeats, flanking the 14q32.2q32.21 deletion boundaries, a novel mechanism of recurrent genomic rearrangement. This is another example how the application of high resolution genome wide testing provides an accurate genetic diagnosis, thereby improving the care for patients and optimizing the counselling for family.

A case of 46,XX dysgenesis and marked tall stature; the need for caution in interpreting array comparative genomic hybridization (CGH).

Gonadal dysgenesis with an apparently normal 46,XX karyotype is a rare cause of hypergonadotrophic hypogonadism. Tall stature is not a widely recognized association. A 15-year-old girl presented with primary amenorrhoea. Examination showed a non-dysmorphic girl of normal intellect with no breast development (Tanner stage B1P4A1) who was tall compared with her parents: height standard deviation score (SDS) +1.56 vs. midparental height of +0.23 SDS, and slim build (weight -0.13 SDS). Investigations showed a 46,XX karyotype, elevated gonadotropins (FSH 119 and LH 33.7 IU/L), serum estradiol <5 pmol/L, uterine length 3.75 cm with cylindrical shape, and absent ovaries on ultrasound. Initially, a 364055-bp deletion on Xp21.2 was reported on array CGH. However, repeat analysis using BlueGnome CytoChip ISCA 4x180k v2.0 array was normal. With oral ethinyl estradiol induction puberty progressed to B4P4A2 but aged 18.4 years, the patient was remarkably tall with height SDS +2.88, weight SDS +0.97. Caution is needed in interpreting small changes with array CGH, particularly with the older assays. We postulate that the genetic change causing 46,XX gonadal dysgenesis in our patient may have also resulted in unsuppressed somatic growth. More critical height assessment, including parental height measurement, of future patients with 46,XX gonadal dysgenesis is recommended in order to determine whether or not a true association with tall stature may be present in certain cases.

A 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows.

We report a 13-year-old girl with 18p deletion syndrome presenting Turner syndrome-like clinical features. A 13-year-old girl was referred for genetic counseling of Turner syndrome-like clinical features of short stature, short webbed neck, low posterior hair line, puffy eyelids and increased carrying angle of the elbows. The girl also had mild intellectual disability, psychomotor developmental delay, speech disorder, high-arched palate, hypertelorism and mid-face hypoplasia. Cytogenetic analysis of the girl revealed a karyotype of 46,XX,del(18) (p11.2). The parental karyotypes were normal. Array comparative genomic hybridization analysis on the DNA extracted from the peripheral blood revealed a 13.93-Mb deletion of 18p11.32-p11.21 or arr 18p11.32p11.21 (148,993-14,081,858) × 1.0 [GRCh37 (hg19)] encompassing 52 Online Mendelian Inheritance in Man (OMIM) genes including USP14, TYMS, SMCHD1, TGIF1, LAMA1, TWSG1, GNAL and PTPN2. Polymorphic DNA marker analysis revealed a maternal origin of the deletion. Females with Turner syndrome-like clinical features in association with intellectual disability, facial dysmorphism and psychomotor developmental delay should be suspected of having chromosome deletion syndromes.

Tetrasomy 18p Case Report.

Tetrasomy 18p is a rare disorder. It is known to affect about 250 families worldwide. Tetrasomy 18p is also the most common type of isochromosome. Here we report a de novo tetrasomy 18p. The copy number variation of the patient was detected by microarray. Whether the abnormal gene was inherited from the parents was detected by karyotype analysis. Then the source of the chromosome was located by fluorescence in situ hybridization. Finally, we used MLPA technology to validate the results of patient testing. Microarray detection found that patients with 18p11.32p11.21 had duplication, with a copy number of four, which was tetrasomy 18 syndrome. The karyotype results showed 48,XY,+2mar?. Chromosome 18 telomere probe FISH experimental results: 48,XY,+i(18)(p10),+mar.ish. MLPA results showed that the number of chromosome 18 short arm copies is increased. Karyotype analysis results of his mother were 47,XX,+mar. Microarray results showed normal. Karyotype results of his father were normal. This case is de novo case, the patient's marker chromosome may be inherited from his mother, which does not rule out the influence of his mother's marker chromosome on his isochromosome 18.

Novel contiguous gene deletion in peruvian girl with Trichothiodystrophy type 4 and glutaric aciduria type 3.

Trichothiodystrophy type 4 is a rare autosomal recessive and ectodermal disorder, characterized by dry, brittle, sparse and sulfur-deficient hair and other features like intellectual disability, ichthyotic skin and short stature, caused by a homozygous mutation in MPLKIP gene. Glutaric aciduria type 3 is caused by a homozygous mutation in SUGCT gene with no distinctive phenotype. Both genes are localized on chromosome 7 (7p14). We report an 8-year-old female with short stature, microcephaly, development delay, intellectual disability and hair characterized for dark, short, coarse, sparse and brittle associated to classical trichorrhexis microscopy pattern. Chromosome microarray analysis showed a 125 kb homozygous pathogenic deletion, which includes genes MPLKIP and SUGCT, not described before. This is the first case described in Peru of a novel contiguous gene deletion of Trichothiodystrophy type 4 and Glutaric aciduria type 3 performed by chromosome microarray analysis, highlighting the contribution and importance of molecular technologies on diagnosis of rare genetic conditions.

The phenotype and rhGH treatment response of ring Chromosome 15 Syndrome: Case report and literature review.

Ring chromosome 15 [r (15)] is an uncommon finding with various clinical manifestations. A common phenotype for these patients has not been established and data on the efficacy of recombinant human growth hormone (rhGH) treatment in patients with r (15) syndrome are limited. One short stature patient in our hospital with r (15) syndrome by whole exome sequencing (WES) and karyotype examination was included. All published r (15) syndrome cases as of March 15, 2021, were searched, and their clinical information was recorded and summarized. One 11.5-year-old female with prenatal and postnatal growth retardation, ventricular septal defect, intellectual disability, downward corners, short fifth metacarpal bone, scattered milk coffee spots, and a right ovarian cyst was included. Her height was 126.9 cm (-3.45 SDS). Karyotype analysis showed 46, XX, r (15). WES revealed a 4.5 Mb heterozygous deletion in the chromosome 15q26.2-q26.3 region, encompassing genes from ARRDC4 to OR4F15. Gonadotrophin-releasing hormone analogue (triptorelin) and rhGH were administered for 6 months. The height has increased 3.8 cm (+0.2SDS) and the calculated growth rate has improved from 4.7 to 7.6 cm/y. The literature review indicated the main clinical manifestations of r (15) syndrome with prenatal and postnatal growth retardation, characteristic craniofacial features, and multisystem abnormalities, and rhGH treatment is beneficial for r (15) syndrome patients with short stature. We delineate the clinical spectrum of r (15) syndrome with the identification of an additional individual and rhGH treatment is beneficial for r (15) syndrome patients with short stature.

Obstentrics_Williams

This technique may be used for rapid identiication of a speciic chromosome abnormality and for veriication of suspected microdeletion or duplication syndromes, such as the 22q 11.2 microdeletion described earlier (p. 260). Because of its 1-to 2-day turnaround time, FISH is often selected for cases in which indings may alter pregnancy management. To perform FISH, cells are ixed onto a glass slide, and fluorescent-labeled probes are hybridized to the ixed chromosomes (Figs. 13-11 and 13-12). Each probe is a DNA sequence that is complementary to a region of the chromosome or gene being investigated. If the DNA sequence is present, hybridization is detected as a bright signal visible by microscopy. The number of signals indicates the number of chromosomes or genes of that type in the cell being analyzed. Findings are probe-speciic. Namely, FISH does not provide information on the entire chromosomal complement but merely the chromosomal or gene region of interest.


We are told of a case of a 95-year-old patient with a displaced intracapsular (subcapital) hip fracture. In this case, the surgical options may be the use of cannulated screws or hip arthroplasty. Cannulated screws are reserved for cases of non-displaced fractures (Wrong answer 2) so the most indicated option would be arthroplasty, in this case hemiarthroplasty (Correct answer 1). Trochanteric pins are reserved for extracapsular fractures (Wrong answer 2) and conservative treatment is only considered in patients with very low functional demand or surgical contraindication (Wrong answer 4).

We are told of a case of a 95-year-old patient with a displaced intracapsular (subcapital) hip fracture. In this case, the surgical options may be the use of cannulated screws or hip arthroplasty. Cannulated screws are reserved for cases of non-displaced fractures ([HIDDEN]) so the most indicated option would be arthroplasty, in this case hemiarthroplasty ([HIDDEN]). Trochanteric pins are reserved for extracapsular fractures ([HIDDEN]) and conservative treatment is only considered in patients with very low functional demand or surgical contraindication ([HIDDEN]).

95-year-old woman living in a nursing home, independent for her basic activities of daily living, goes out to the garden for walks. She has a history of hypertension, dyslipidemia, osteoporosis and mild cognitive impairment. She suffers a fall when getting up at night to go to the bathroom. X-ray shows a displaced subcapital fracture of the right hip. What is the recommended treatment?

Ethics in practice.

H. K. is a ninety-two-year-old woman with Alzheimer's disease and mild hypertension. She resides at a nursing home, where she transfers from bed to chair with maximal assistance. She presents to our emergency department with a painful right hip. Physical examination demonstrates a confused, elderly patient with significant right hip pain and shortening and external rotation of the lower extremity. Radiographs demonstrate a displaced intertrochanteric hip fracture. The patient lacks the capacity for informed consent. Her family is contacted to obtain consent for insertion of a compression screw. The family refuses to give consent, stating that the patient is too old and the surgery is too dangerous.

[Evaluation of the postoperative quality of life in the elderly over 80 years old who underwent hip hemiarthroplasty for femoral neck fracture].

To evaluate the postoperative quality of life of aged patients (> 80 years old) who underwent hip hemiarthroplasty for femoral neck fracture one year ago. From February 1995 to February 2001, 52 elderly patients (> 80 years old) underwent the hip hemiarthroplasty after femoral neck fractures. There were 28 males and 24 females, with the average age of 84.2 years old (ranged from 80 - 95 years old). The fracture type was Garden III or IV, and all the patients underwent the hip hemiarthroplasty of domestic prosthesis. Before the operation, most of them were accompanied with pre-existed diseases. Harris hip score including symptoms and the ability of daily life at the one year after operation was adopted for the follow-up. Postoperative A-P and lateral X-ray of hip joint in different phase were also assayed. Forty-six patients (88.46%) were free of pain and satisfied their operations, only 6 patients (11.54%) complained about slight pain. Twenty-four patients (46.2%) were able to walk without any assistant, 24 patients (46.2%) managed to walk by walker, 4 patients (7.7%) could only lie on the bed or move by wheel chair. Postoperatively, patients with neurological diseases such as Parkinson dementia, Senile dementia, cerebrovascular diseases got poor result of the quality of life. However, the other comorbid diseases such as cardiovascular diseases, diabetes mellitus, chronic renal failure, chronic bronchitis did not affect the result. Thirty-eight patients had the postoperative X-ray when they were followed up. Postoperatively, the X-ray were taken from 3 months to 5 years and 6 months, averaged 54.2 months. Sclerotic line were discovered around the shaft of prosthesis only in 3 patients. No complications such as femoral head central dislocation or hip osteoarthritis were found. Operative treatment could be actively adopted for aged femoral neck fracture patients without surgical contraindication, which can contribute to obtain the motion ability, reduce complication caused by lying in bed, and keep a good quality of life.

MR-Brain Causing Confusion.

An 82-year-old lady was found on the floor of her home, confused and surrounded by vomitus. She had a past medical history of type II diabetes, hypothyroidism, previous left total hip replacement, and previous hip fracture treated with right dynamic screw fixation. Prior to the current presentation she had been living alone, mobilizing independently with a walking stick and self-caring for her activities of daily living. She was last seen by her daughter on the previous day, and reported no concerning symptoms.

Ground-level geriatric falls: a not-so-minor mechanism of injury.

Introduction. Ground-level falls are typically regarded as a minor mechanism of injury that do not necessitate trauma team activation; however, they represent a significant proportion of hospitalised trauma and can result in multisystem injury. Case Presentation. A 79-year-old nursing home resident was brought to the emergency department following an unwitnessed fall. She suffered dementia and had a seizure in the department resulting in a reduced GCS, making history and examination difficult. She was diagnosed with a right proximal humerus fracture and admitted under joint orthopedic and medical care. Following orthopedic review, further X-rays were requested which showed bilateral neck of femur fractures. The following day she had bilateral hip hemiarthroplasties and K-wire stabilisation of the right shoulder. Several days later, when cognition had improved, she was noted to be avoiding use of the left arm and was found to also have a left proximal humerus fracture which was managed conservatively. Conclusion. Trauma patients with reduced cognitive function should undergo full ATLS assessment, and a prospective trial is required to see if age should be incorporated as a criteria for trauma team activation. More liberal use of advanced imaging such as a full body CT-scan may be beneficial.

Mortality and quality of life after trochanteric hip fracture.

The objective was to evaluate the survival and some aspects of the quality of life of patients with trochanteric hip fracture after long-term follow-up in comparison with the age- and sex-matched controls without fracture. Two hundred consecutive patients (mean age at fracture 77 y) with trochanteric hip fractures were compared with the age- and sex-matched controls representing an average population from the same area. After a mean 7 y follow-up period a questionnaire concerning their place of residence, ambulation, causes leading to impairment, need for locomotor aids and management of activities in daily living (ADL) functions was sent to the surviving patients and controls. Mortality increased gradually being 4.5 percent above the control level one month after the fracture, 6.0 percent above at three months, 3.5 percent above at one year, 4.5 percent above at two years, 6.5 percent above at five years and 9.0 percent above at six years. Thirty (48%) of the surviving 62 patients and 83 (90%) of the 92 surviving controls were living in their own homes and 2 (3%) and 4 (4%) in service apartments respectively. Seventeen (27%) of patients alive were institutionalized in a chronic care hospital unit and 13 (21%) in an old people's home as compared with 2 (2%) and 3 (3%) of the controls respectively. Twenty-two (35%) of the patients and 73 (79%) of the controls were able to move about independently. The patients were significantly worse at ADL-management, required more home help and had fewer social contacts and outdoor hobbies than the controls. In conclusion surgically-treated trochanteric hip fractures markedly increase mortality rate, reduce independence and impair walking ability and ADL-functions, and thus seriously affect the health-related quality of life of the patients. This fact should be considered in the planning of the healthcare of elderly people.

Internal fixation compared with total hip replacement for displaced femoral neck fractures in the elderly. A randomised, controlled trial.

The treatment algorithms for displaced fractures of the femoral neck need to be improved if we are to reduce the need for secondary surgery. We have studied 102 patients of mean age 80 years, with an acute displaced fracture of the femoral neck. They were randomly placed into two groups, treated either by internal fixation (IF) with two cannulated screws or total hip replacement (THR). None showed severe cognitive dysfunction, all were able to walk independently, and all lived in their own home. They were reviewed at four, 12 and 24 months after surgery. Outcome measurements included hip complications, revision surgery, hip function according to Charnley and the health-related quality of life (HRQoL) according to EuroQol (EQ-5D). The failure rate after 24 months was higher in the IF group than in the THR group with regard to hip complications (36% and 4%, respectively; p < 0.001), and the number of revision procedures (42% and 4%, p < 0.001). Hip function was significantly better in the THR group at all follow-up reviews regarding pain (p < 0.005), movement (p < 0.05 except at 4 months) and walking (p < 0.05). The reduction in HRQoL (EQ-5D index score) was also significantly lower in the THR group than in the IF group, comparing the pre-fracture situation with that at all follow-up reviews (p < 0.05). The results of our study strongly suggest that THR provides a better outcome than IF for elderly, relatively healthy, lucid patients with a displaced fracture of the femoral neck.

[Femoral shaft fractures in the elderly treated by intramedullary nailing].

Little work has been devoted to femoral shaft fractures in the elderly, contrasting with the data available for proximal neck or trochanteric fractures. The purpose of this study was to determine the epidemiological and clinical features of femoral shaft fractures in the elderly from a retrospective series of 58 patients who underwent locked intramedullary nailing procedures with Grosse and Kempf (GK) or long gamma (GL) nails. The series included 38 women and 20 men, mean age 83.6 years, who suffered a fracture of the femoral diaphysis due to a fall at home (49 fractures), a traffic accident (8 fractures) or a high-energy fall (1 fracture). Prior to the fracture, 10 patients had homolateral osteoarthritis and two had a contralateral hip arthroplasty. Twenty-six patients were in very good health, 19 had a history of cardiovascular disease, 9 had diabetes and 12 suffered parkinsonian syndromes or dementia. The ASA score was I in 24, II in 23 and III in 11. The diaphyseal fracture was isolated in 31 cases and associated with trochanteric involvement in 27. The upper third of the femur was involved in 37 cases, the middle third in 7 and the lower third in 14. Generally there was a simple spiroid subtrochanteric fracture line (36 cases), or a torsion wedge with or without a proximal extension. Mean delay to surgery was 1.9 days. Subtrochanteric fractures with a proximal line were stabilized with a GL (34 nails) and diaphyseal fractures with a GK (24 nails). Mean duration of the procedure was 1.9 for GL and 2 hours for GK. In 22 cases (17 GL and 5 GK), a minimally invasive access was needed to achieve reduction or stabilization during reaming and insertion of complementary fixation (3 screw fixations, 7 cerclages). Six patients died before six months, 4 during the initial hospitalization. Twenty patients experienced general complications: 7 cases of phlebitis and 5 "end-of-life" syndromes. Infection occurred in 3 cases including one septic arthritis leading to a bedridden situation. A new fracture beyond the ends of the implant occurred in 2 others. The upright position was achieved within 31 days and total weight bearing within 69 days. Bone fusion was achieved at 4 months (mean). Six patients died between 6 and 12 months, giving a 20.6% mortality at 1 year. Clinical outcome at 12 months was available for 42 living patients: 21 were walking without assistance, 7 used a cane, 8 required crutches or another assistance device and 6 were bedridden. The general and functional prognosis of femoral shaft fractures in the elderly is the same as for proximal fractures. These diaphyseal fractures can be individualized due to their characteristic mechanical and anatomic features: composite fracture with a rotation element involving the distal portion of the trochanter and the proximal quarter of the diaphysis. Several types of ostheosynthesis have been proposed for fixation. Locked intramedullary nailing has been found to be effective despite the difficulty in reduction, especially for particularly proximal fractures. There is a risk of iterative fracture in the transition zones between the femoral component and the osteoporotic bone.

Kitni Girhain Baaki Hain (season 2)

a new mobile. While, another woman's brother is unconscious because of drinking alcohol but he also survives! Bushra, angrily goes to her home, pushes a tap to get water and water comes hardly. She comes to home and shakes her bhandara. She abuses to doctor to not let die patient. She says to kill doctor. She again prays that someone should die. But again that patient survives. Doctor sees her and again says her that why has she come here and gives her money but she refuses. She goes to home where same doctor comes in ike and asks her to do nursing of hospital. She doesn't give answer but comes in hospital to be a nurse. Nurse guides her, she falls with that doctor and they both smile. She comes to home in night, where her father says that 3 persons died in highway and tap contains much water. She says her father if he could make her doctor. She sleeps in bed in ankles. Doctor comes and wakes her up that patient is dying and she is sleeping and warns that her father will be

Femoral Neck Fractures -- History and Physical

In the majority of cases, the patient will have had recent trauma. In cases of dementia or cognitive impairment, the history may be scant without the report of any trauma. This is where obtaining an account from the nursing home, or health aids is crucial. Question the nurse aids of any recent falls and change in cognition the past few days. The patient will complain of pain with a decreased range of motion of the hip. In non-displaced fractures, there may be no deformity. However, displaced fractures may present with a shortened and externally rotated lower limb. The patient history varies depending on the mechanism of injury. The following should be obtained during the history and physical examination:

Subcapital femoral neck fracture after closed reduction and internal fixation of an intertrochanteric hip fracture: a case report and review of the literature.

A subcapital femoral neck fracture in a healed intertrochanteric fracture treated by an open reduction and internal fixation is a rare, but catastrophic, event. We present the case of an 86-year-old woman, a community ambulator, who sustained a displaced right intertrochanteric hip fracture during a fall. She was treated with closed reduction and internal fixation with a dynamic compression hip screw and side plate. Four months later, she was noted to have a displaced subcapital femoral neck fracture and underwent hip screw and side plate hardware removal and cemented bipolar hemiarthroplasty. Both postoperative recoveries were uncomplicated, and she was discharged to a rehabilitation facility able to ambulate with minimal assistance. This devastating complication in patients with osteoporosis may be prevented by deeper placement of the dynamic hip compression lag screw to within 5 mm to 8 mm of the subchondral bone, which may decrease the stress forces in the subcapital femoral neck.

Fractures of the hip in the tenth decade of life. Findings in 25 cases.

A report is given of the results of treatment of 25 patients with a fracture of the hip who were over 90 years of age. Twenty three patients were subjected to operation: 5 of these died in hospital, but not as a direct consequence of operation. Of the 18 patients discharged after an average hospital stay of 32 days, 13 were able to walk independently at home, on the average for over two years. It is concluded that surgical treatment of fractures of the hip in very old people is advisable and useful, provided they are in reasonable general condition and do not exhibit dementia.

The effects of a Pilates-based exercise rehabilitation program on functional outcome and fall risk reduction in an aging adult status-post traumatic hip fracture due to a fall.

Currently, little information describing the relationship of Pilates-based strength and stability exercises with fall risk in the geriatric population exists. The purpose of this report was to examine the impact of a Pilates-based rehabilitation (PBR) program on reducing fall risk in an aging adult status postfall with resulting hip fracture and open reduction and internal fixation. The patient was an 84-year-old woman admitted to a skilled nursing facility (SNF) after a right hip fracture resulting from a fall at home. The patient's relevant medical history included frequent falls due to loss of balance, a previous left hip fracture with resultant arthroplasty, and a stroke roughly 20 years prior. The patient received physical therapy and occupational therapy 6 days per week for 26 days in an SNF. The physical therapy intervention consisted of gait and transfer training, neuromuscular reeducation, and an adjunct of specialized PBR exercises for the following impairments: decreased core strength and awareness and poor dynamic stabilization during functional activities. The patient demonstrated increases in lower extremity strength and active range of motion, ambulation distance and speed, and transfer ability. The patient was able to return home and live with her husband while requiring only incidental assistance with activities of daily living. She was able to independently ambulate around her home with her rolling walker. Her fall risk was also reduced from initial evaluation based on several fall risk assessments, including the Four Square Step Test, the Berg Balance Scale, and the Timed Up and Go. This case illustrates the benefit of integrating PBR exercises into a standard SNF rehabilitation program, which may contribute to decreased fall risk.

Home, please: A conjoint analysis of patient preferences after a bad hip fracture.

An Australian study of older, community-dwelling women found that 80% would rather be dead than experience loss of independence and nursing home admission after a bad hip fracture. We re-examined this issue using a conjoint analysis approach. We asked older hospital patients with a history of falls, fracture or osteoporosis to imagine they had a hip fracture resulting in significant residual disability. Subjects were asked to rank in order of preference an orthogonal array of nine out of 36 potential outcome scenarios reporting risk of falls, life expectancy, discharge home with support or to a nursing home and family agreement or disagreement with discharge location. Of 192 patients satisfying inclusion criteria, 183 agreed to participate and 97 completed the study. Those who failed to complete the study were older and had lower Mini-Mental State Examination scores than those who completed the study. For the group as a whole, averaged importance scores were: discharge residence 31.3%, length of life 27%, fall risk 26.4% and family preference 15.5%. On average, subjects would be willing to sacrifice approximately 9 months of life in order to return home rather than go to a nursing home. In the present study, older people at high risk for fracture judged that after a bad hip fracture their main priority would be to remain at home.

Bilateral atraumatic femoral neck fractures resulting from transient osteoporosis of the hip.

A woman in her mid-30s presented to the orthopaedic team, unable to mobilise, shortly after her caesarean section. On questioning, she reported 10 weeks of atraumatic right hip pain. A radiograph revealed a displaced right subcapital neck of femur fracture. An MRI confirmed this, as well as identifying a minimally displaced left subcapital neck of femur fracture. She underwent a right total hip replacement and internal fixation of the left hip. A dual energy X-ray absorptiometry (DEXA) scan showed severe osteoporosis, and a diagnosis of transient osteoporosis of the hip was made. She was seen by the bone metabolism team and given calcium and vitamin D medication. Although atraumatic hip fractures are rare in young patients, disproportionate or persisting hip pain in pregnant patients should raise the index of suspicion and prompt further investigation in the form of an MRI. This will allow timely management of hip fractures and improve patient outcomes.

Long-Term Outcomes Following Reduction and Fixation of Displaced Subcapital Hip Fractures in the Young Elderly.

The surgical treatment of hip fractures remains controversial especially when considering age. To investigate the long-term functional outcomes of displaced subcapital hip fractures that were reduced and surgically fixed using parallel cannulated screws in patients aged 60 years and younger. During the period 1996-2005, 27 patients under age 60 with displaced subcapital hip fractures classified as Garden III or IV were treated with fracture reduction and surgical internal fixation using cannulated screws. Patient outcomes were assessed using the Harris Hip Score (HHS) and physical examination. During a follow-up period of 8-17 years 4 of the 27 patients (14.8%) developed non-union/femoral head avascular necrosis and had undergone hip arthroplasty. All reoperations were performed within the first year after fracture fixation, all in the 50-60 year old age group. The revision rate among patients 50-60 years old was significantly higher than that of patients 50 years and younger (40% vs. 0%, P = 0.037). Mean HHS was higher for patients not requiring revision surgery (85.4) than for patients with revision surgery (75.5), but this difference was not significant. Internal fixation using fracture reduction and cannulated screw fixation is a successful treatment modality for displaced subcapital hip fractures in patients under 50 years old. Patients aged 50-60 may have a higher risk of avascular necrosis or non-union and require arthroplasty, often within the first year after fracture fixation. The long-term outcome following these fractures is good when excluding patients who had early complications.

[Life-threatening sleepwalking (Elpenor's syndrome) in a 10-year-old child].

Though benign in the majority of cases, sleepwalking sometimes causes injuries due, among other causes, to falls. Such accidents can be life-threatening - a situation that has been termed Elpenor syndrome (in reference to an accident experienced by a character in Homer's epic The Odyssey) - in particular when entailing defenestration. This syndrome has been described in adults and adolescents; we report here a case in a child. This 10-year-old girl was admitted at night to our hospital after a 3-m fall at home. She was alert (Glasgow score, 15) at admission; a frontal wound and a deformation of the right wrist were noted. Brain CT scans showed a frontal skull fracture and frontal lobe contusion, wrist x-rays showed a displaced right fracture. The patient underwent urgent neurosurgery (wound excision and suture after reduction of skull fracture) and closed reduction and immobilization of the wrist fracture, both under general anesthesia. She underwent a psychiatric assessment in the intensive care unit 3 days after her fall. She was alert, well-oriented in time and space, and spoke fluently. She had no memory of her fall, only remembering going to bed in the evening before the accident and waking up in the ambulance on the way to the hospital. She displayed no sign of a concurrent mental illness and no suicidal ideas. Her parents reported that the evening of the accident she and her two brothers had all fallen asleep about 11:00 pm while watching TV, in the double bed of the guest room, placed just beside its window. At approximately 1:00 am, her father, who was going to bed and had just made noise in the hall, heard a cry from the guest room. He entered the room immediately and saw the opened window and his daughter lying on the outside ground; the brothers only awakened after the fall. The family had returned 2 days before from a 6-month stay in the United States, with jet-lag, sleep deprivation, and a disorganized sleep/wake rhythm in the patient. There was no medication before the accident, no substance use (including caffeine), and no concurrent medical problem. Over the 2 preceding years, the patient had undergone two witnessed episodes of early-nighttime arousal with altered consciousness and calm wandering (including going downstairs on one occasion), both strongly suggesting sleepwalking. There was a history of sleepwalking in her father and her older brother. Life-threatening sleepwalking (Elpenor syndrome) was diagnosed. The child and her parents were educated about sleepwalking; regularization of sleep schedules and sleep extension (avoidance of sleep deprivation, short napping when possible) were prescribed. We also recommended securing the home (bed, windows, and stairways). No pharmacological treatment was instituted. During the following 18 months, the child manifested only one noted sleepwalking episode, without risk-taking. She had no neurological or psychopathological sequela from her accident, of which she never had a memory. Elpenor syndrome can occur in a child; consequently, it is important to inform parents of children with sleepwalking about the necessity of always securing the night-time environment.

Predictors of community reintegration and quality of life after hip fracture among community-dwelling older adults.

We aim to explore factors contributing to community reintegration and health-related quality of life (HRQoL) among community-dwelling older adults three months after discharge from inpatient rehabilitation following hip fracture. We performed a prospective cohort study with follow-up. Thirty-three consecutive patients (age 66-89) after surgery for hip fracture repair were recruited from an inpatient rehabilitation unit. Participants were 65+ years old, did not have dementia, and were independent in basic activities of daily living (BADL) at discharge. We examined the contribution of independent variables measuring BADL, cognition, emotional status, pain and social support to the explained variance of two main outcomes: the Reintegration to Normal Living Index (RNLI), measuring self-reported ability to participate in activities and return to life roles; and the Medical Outcomes Study Short-Form Health Survey (SF-12), assessing mental and physical aspects of HRQoL. Stepwise regression analyses revealed that: social support and pain while walking significantly explained 42.1% of variance in the RNLI; social support significantly explained 31.1% of the variance in the SF-12-physical subscale; the number of falls in the previous year, social support and executive functions assessed by the clock drawing test significantly explained 61.9% of the variance in the SF-12 mental subscale. Social support, pain while walking and the number of falls in the previous year can predict community reintegration and HRQoL among older adults three months after discharge from rehabilitation following a surgical hip fracture repair. These factors need to be addressed in rehabilitation programs.

Participation and quality of life of cognitively impaired older women in Israel following hip fractures.

The main objective of this study was to identify the impact of cognitive problems on the participation and quality of life of individuals following hip fracture among senior women. Sixty women aged ≥65 years after an operation due to a hip fracture, half with non-impaired cognition (average Mini Mental State Examination 27) and half with mild cognitive impairment (average Mini Mental State Examination 21) were examined and interviewed at admission to a rehabilitation hospital in Israel and 1 month after discharge with the following measures: Functional Independence Measure, Geriatric Depression Scale, Israeli Adults Assessment of Participation and questionnaire and 12-item short-form health status survey questionnaire. The average age was 83 years (SD = 6.5), 63% were widows. No difference was found between those with and without cognitive impairment. A month after discharge, the average general participation score of the cognitively unimpaired women was 11.5, and of those with impaired cognition was 7.5 (p > 0.001). Four participation subscales revealed significant differences between the two groups (homecare, physical exercise, self-care and quiet pastimes), and two subscales (going out and entertainment and enrichment activities) showed no significant differences. Quality of life was lower a month after discharge for both physical and mental components, with no differences between the two groups. Therefore, specific attention should be given to those with mild cognitive impairment during rehabilitation. It is recommended to practise the basic functions over and over as part of their re-adjustment to their new situation. Attention should also be given in order to improve their re-involvement in the community.

Prospective randomized controlled trial comparing dynamic hip screw and screw fixation for undisplaced subcapital hip fractures.

Neck of femur fractures (NOFFs) are a common cause of morbidity and mortality in our community. Minimally displaced intracapsular fractures are treated with internal fixation by a two-hole dynamic hip screw (DHS) or three partially threaded cancellous screws. Data to support the superiority of one are limited. This prospective randomized controlled trial compares outcomes with these two fixation methods. We prospectively recruited patients over 50 years, with an acute fracture subcapital NOFF, who walked and lived independently, and were cognitively intact. They were randomized into DHS or cancellous screw groups and followed up for 2 years (overall 75.9%). Outcomes of mortality, revision, loss of fixation, avascular necrosis, surgical complications, WOMAC, Harris hip score and SF-12 were measured. We recruited 62 patients (31 DHS, 29 cancellous screws, 2 failed consent). Six deaths (19.3%) were seen in each group. A total of 3.2% of DHS (1 out of 31) and 10.3% (3 out of 29) of cancellous screw patients required re-operation (P = 0.272). There was no statistical significant difference in patient satisfaction, quality of life (QoL), radiological union or osteonecrosis. There are trends towards better functional scores and QoL in cancellous screws, particularly at 1 year (P = 0.0061), but with a higher re-operation rate. There was a combined mortality and transition to institutional care of 40.0% (24 out of 60) at 2 years. This study found no difference in outcomes between DHS and cancellous screws in the treatment of subcapital NOFFs in a fit, independent population, but we found a high level of physical decline in previously fit, independently ambulating patients. A large, multicentre trial will be required to differentiate between these two fixation methods.

What is backward disequilibrium and how do i treat it? A complex patient case study.

Postural vertical refers to a component of an individual's perception of verticality that is derived from information about the direction of gravitational forces. Backward disequilibrium (BD) is a postural disorder observed in some older adults who have a distortion in their perception of postural vertical. Individuals with BD sustain their center of mass (COM) posterior to their base of support and resist correction of COM alignment. The purposes of this case study are to describe a patient with BD and propose a physical therapy management program for this condition. The patient was an 83-year-old woman admitted for home care services 4 months after falling and sustaining a displaced right femoral neck fracture and subsequent hemiarthroplasty. Details of the clinical examination, diagnosis, and intervention are provided and a treatment protocol for physical therapy management is suggested. During the episode of care, the patient (1) decreased her dependence on caregivers, (2) surpassed minimal detectable change or minimal clinically important improvements in gait speed and on the Short Physical Performance Battery and Performance-Oriented Mobility Assessment, and (3) achieved her primary goal of staying in her own apartment at an assisted living facility. Knowledge of BD coupled with a thorough clinical examination may assist physical therapists in identifying this condition and employing the specific intervention we have proposed. We believe that failure to recognize and manage our patient's condition appropriately would have led to nursing home placement.Video Abstract available for more insights from the authors (see Supplemental Digital Content 1, http://links.lww.com/JNPT/A94).

Subcapital Fracture with Avascular Necrosis of the Whole Femoral Head After Fixation of an Intertrochanteric Fracture: A Case Report.

Subcapital fractures following internal fixation of an intertrochanteric fracture are relatively rare. It has been reported that these fractures are caused by improper placement of implants, osteoporosis, and any trauma episode. We report a rare case of subcapsular fracture possibly caused by whole femoral head necrosis following intertrochanteric fracture treatment. An 88-year-old woman fell and sustained an intertrochanteric fracture of the left femur. She was treated with a short femoral nail (SFN) and 3 months after the surgery, bone union was observed. One year after the internal fixation of the intertrochanteric fracture, she complained of the left hip joint pain without any trauma, and the X-ray showed a subcapital fracture of the femur. She underwent nail removal and was treated with a bipolar hemiarthroplasty. Magnetic resonance imaging showed a change in the signal intensity of the entire head, and pathological findings revealed osteonecrosis. Normally, the reaction of bone resorption occurs below the necrosis area. We believe that the avascular necrosis (AVN) of the whole femoral head made the subcapital area fragile, resulting in a subcapital fracture. We should consider AVN of the whole femoral head as a potential cause of subcapital fracture after SFN fixation of intertrochanteric fractures.

The difference in activity of daily living (ADL) and mortality in patients aged over 80 years with femoral neck fracture treated with hemiarthroplasty or osteosynthesis at 2 years of follow-up.

Hip fractures are one of the major causes of morbidity and mortality in the elderly and outcomes following hip fracture have been the focus of several studies over recent decades. Among all types of fall-related injuries, hip fractures cause the greatest number of deaths, lead to severe health problems and reduce quality of life. Improving the outcome of hip fracture surgery has thus become one of the main areas of interest for orthopaedic surgeons. The aim of this study was to compare the difference in activity of daily living (ADL) and mortality between patients aged over 80 years with hip fracture treated with osteosynthesis versus prosthesis at 2 years of follow-up. The data were collected on admission and during in-hospital stay. Information recorded on admission included: age, sex, type and mechanism of fracture, functional and cognitive status, comorbidity, and severity of illness. Prefracture functional status was measured. The follow-up was clinical and radiographical, or was by telephone for patients who were not able to come to the clinic. Patients aged over 80 years who underwent a single surgical procedure treated with intramedullary nail or hemiarthroplasty were included in the study. A total of 174 patients (45 male and 129 female) were included in the study. The two treatment groups were comparable for all preoperative parameters except for preoperative haemoglobin, which was an average of 1g/dl higher in the patients given hemiarthroplasty compared with those treated with intramedullary nail (t-test: p<0.05). The average observation period was 594.99days; the number of deaths was 62 of 164 contacted patients, and the survival rate at 2 years was 62.2%. There was increased mortality in patients who underwent hemiarthroplasty (Log-rank Mantel-Cox, p: 0,048). The difference in ADL between preoperative and follow-up is not statistically significant between the two groups. In the literature, there are few specific studies that consider these parameters in this population. However, these findings are consistent with the findings from other studies. Patients who received hemiarthroplasty have a higher mortality risk than those treated with intramedullary nail; there are no differences in ADL at follow-up.

Bilateral Subcapital Femoral Neck Fracture in a 28 Year Old Postpartum Woman.

Subcapital femoral neck fractures are associated with high morbidity and mortality. These fractures mostly occur as a result of a high-force impact from traffic accidents and a fall from a great height, though non-traumatic forms are described in transient osteoporosis during the second half of pregnancy, in convulsions during electric shock, eclampsia, hypocalcemia, osteomalacia, renal osteodystrophy and myeloma. In this report we present a bilateral subcapital femoral neck fracture in a woman sustained two days after delivery. The right hip fracture was treated with fixation using three spongious screws without capsular decompression, while for the left hip a capsular decompression by open reduction and fixation was performed. Physical treatment based on active and passive movements was immediately initiated. The patient was able to rest upon her right leg within seven and upon the left leg within eight months. X-Rays showed the accurate position of fragments and implants throughout the recovery period. Twelve years later, the patient made a full recovery and the x-rays showed that both femoral heads are vital and fully recovered. Early anatomical reconstruction followed by internal fixation is crucial in the prevention of long-term complications. Complications of internal fixations include non-union (10-30%), avascular necrosis (15-33%), deep vein thrombosis and pulmonary embolism.

Effects of fragility fracture integrated rehabilitation management on mobility, activity of daily living and cognitive functioning in elderly with hip fracture.

To determine the effectiveness of Fragility Fracture Integrated Rehabilitation Management (FIRM) on mobility, activity of daily living and cognitive functioning in elderly with hip fracture. A randomized control trial was conducted at Seoul National University Bundang Hospital, South Korea from August 2017 to January 2018. Patients of both genders with the age 65-95 years, diagnosed cases of hip fracture specifically fractures neck of femur, intertrochanteric, subtrochantric, patients who got bipolar hemiarthroplasty, total hip replacement arthroplasty, reduction and internal fixation were included in this study. A total of n=39 sample was collected through non probability convenience sampling technique and randomly divided into Fragility Integrated Rehabilitation Management (FIRM) group (n=20) and Conventional Physical therapy (CPT) group (n=19). The data was collected through KOVAL for walking ability, modified barthal index (MBI) for behaviors related to activities of daily living (ADLS) and mini mental status examination (MMSE) for cognitive functions at baseline on 2<supnd</sup postoperative day and after 10<supth</sup FIRM session on 15<supth</sup postoperative day. The mean age of study participants was 82.07±6.00 years. The post intervention comparison did not show any significant difference (<ip</i>0.05) in walking ability, overall ADLs and cognitive functioning. But FIRM group showed significant improvement in stair climbing {0(5) ver. 2(7.5), <ip</i=0.049} and ambulation or walker use {8(5) ver. 2(4), <ip</i=0.037}, as compared to CPT group. Both groups improved in indoor mobility with walker and crutches as well as activities of daily living. But FIRM showed more improving ambulation with walker and stair climbing. While cognitive functioning was observed only in FIRM group.

Causes of decreased activity of daily life in elderly patients who need daily living care.

The causes of decreased activity of daily life (ADL) in elderly patients include cerebrovascular diseases, bone fracture by falls, and dementia. The present study was conducted among elderly patients with decreased ADL who were hospitalized in nursing wards in order to investigate the causes of becoming early bedridden and to determine precautionary measures against decreased ADL. The study subjects were 224 elderly patients with decreased ADL (mean age: 83.3 ± 8.0 years) and 49 outpatients without decreased ADL (mean age: 76.8 ± 5.3 years). Current age, age at the start of ADL decrease, medical history and history of smoking were investigated. In the groups with decreased ADL, current age and the age of becoming bedridden in non-diabetic versus diabetic groups were 84.7 ± 7.9 versus 80.3 ± 7.5 and 82.7 ± 8.3 versus 77.6 ± 8.0 years, respectively, both showing significantly lower values in the diabetic group (P < 0.05). Multiple regression analysis revealed that sex difference and diabetes were the factors determining the age of becoming early bedridden. Diabetic patients with smoking habit were significantly younger than diabetic and non-diabetic patients without smoking habit. Sex difference, smoking habit and presence of diabetes mellitus are independent risk factors of becoming early bedridden. Therefore, the major targets of medical care among elderly should be diabetic men with a smoking habit to lower the risks of decreased ADL.

Internal fixation versus conservative treatment for elderly patients with a trochanteric hip fracture in conjunction with post-stroke hemiplegia.

To retrospectively evaluated Gamma nail internal fixation in the treatment of elderly patients with post-stroke hemiplegia experiencing trochanteric hip fracture. The patients were obtained consecutively from January 2005 to December 2010 with inclusion criteria. The total number was 138 and allocated to two groups: treated with the Gamma nail (n=72,group A) and continuous skin traction (n=66,group B). Preoperative variables including patient age, gender, duration of cerebrovascular accident, duration of hypertension, ASA risk score, Harris hip score and fracture type were recorded and compared. After treatment, time of patients activity on the bed, ambulation time, Harris hip score, mortality, complications were recorded and used to compare the outcomes. (1) Follow-up was undertaken from 3 to 10 years, with an average of 5.8 years. (2) No statistical difference in preoperative variables was found between the 2 groups. (3) two groups had statistical significance (P=0.000) in the time of patients activity on the bed and ambulation time and group A can activities on the bed and ambulates earlier. (4) There were significant differences between 2 groups in Harris hip score at 1 and 3 years and group A was significantly higher than group B. (5) there were statistically significant differences in mortality of 3 years, 5 years and 10 years and the group B was significantly higher than the group A. (6) There was a statistical significance in complications between 2 groups and group B was higher than group A. Major complications in group A were pain, lag screw cut out, implant infection and distal femoral fractures caused by fall after the surgery. On elderly patients with trochanteric hip fracture on the hemiplegic lower side, Gamma nail internal fixation treatment can achieve better effect, patients can be early activity, fewer complications, and less mortality.

[Prediction of mortality, mobility and admission to long-term care after hip fractures].

Surgical treatment, discharge planning and rehabilitation procedures are rarely based upon defined assessment procedures. It might therefore be useful to develop simple and reliable screening tools to identify patients for early discharge, intensified rehabilitation and limited treatment. 234 patients were initially contacted. From these 217 gave informed consent. The reported study included the 134 home dwelling elderly. All patients could be contacted or died after six month. Thus,data from more than 90% could be used for the analysis. The six month mortality was 10%. A population based cohort of elderly patients referred to five local hospitals was tested. Mortality, institutionalisation and mobility were defined as major outcome criteria. Only information that was available during the first week of treatment was used in the model. Predictors expressed as odd ratios (OR) were calculated using logistic regression with variable selection. The most important predictors for institutionalisation were age, inability to eat without assistance, postoperative night time confusion, stroke history, cognitive deficit and fear of falling. Outdoor mobility was strongly associated to the preoperative ADL performance measured as the Barthel-Index, history of malignancy and fear of falling. Six month mortality was associated with male sex, the Barthel-Index and fear of falling. It seems feasible to improve postoperative resource allocation by predictor led stratification. This need to be tested in intervention trials under the specific condition of the German health care system.

Bilateral sub-trochanteric femur fragility fractures in a patient on antiretroviral therapy: a case based discussion and review of literature.

The burden of HIV/AIDS is ever increasing, affecting populations all over the world. Along with the disease, its effects and consequences on bone health are also on a rise. A commonly used drug in managing HIV, "Tenofovir" has been shown to affect bone health, specifically on prolonged usage. Osteomalacia and osteoporosis secondary to drug induced Fanconi syndrome and the disease itself, could lead to pathological/fragility fractures with trivial trauma. A 45 year old female on antiretroviral drugs (ART) for HIV, presented with right hip pain and inability to bear weight. She has had similar symptoms previously in the left hip which resolved after 6 weeks of limited weight bearing. Anteroposterior and lateral radiographs of pelvis with hips showed bilateral sub-trochanteric fractures; healed on the left side and displaced on the right side. The patient was managed with cessation of tenofovir and right side proximal femoral nail anti-rotation (PFNA). Patient was lost to follow up but had started to ambulate independently with a cane, by the end of 6 weeks, before she succumbed to systemic complications. Patients receiving antiretrovirals especially tenofovir should be regularly investigated for their renal impairment and bone health. Fixation of pathological fractures and early mobilization are important to prevent prolonged bed immobilization and associated complications in these immunocompromised patients.

Patients with isolated hip fracture must be considered for surgery irrespectively of their age, comorbidity status and provenance: a statement applicable even to nonagerians.

Hip fractures are associated with high rates of adverse outcome but previous research has not lead to the identification of any subgroups for whom surgery could be contraindicated. The purpose of this study was to identify factors that could help in the decision making process. We identified 965 consecutive patients operated for an isolated hip fracture from 1 April 1996 to 31 March 2003 in a single large volume centre. We collected information on age, gender, comorbidities and place of injury (in-house, outdoors, nursing home). Outcome measures were mortality and orientation at discharge. Multiple logistic regression and recursive partitioning were used to identify factors associated with poor outcome. Median age was 81.4 with 121 patients aged 90 and over. Seventy-six percent were female. The fall occurred at home in 59%, outdoors in 19% and at a nursing home in 22%. Death was significantly associated with the number of comorbidities, age and place of injury. Dementia (23%) was the most significant predictor of orientation to a new nursing home. Among 121 nonagerians, 89 survived and 59 returned home. Among 53 nonagerians with two or more comorbidities, 34 survived and 20 returned home. Comorbidities, age and provenance of patients appear to be the most significant factors associated with adverse outcome. However, even among nonagerians with a heavy comorbidity burden, results do not contraindicate surgical intervention.

[Comparison of clinical effects of total artificial hip replacement and cannulated screw fixation for the treatment of displaced femoral neck fractures in elderly patients].

To compare of clinical effects of different surgical methods in the treatment of elderly femoral neck fractures. From January 2013 to June 2016, 144 elderly patients with femoral neck were treated and divided into artificial hip replacement group and cannulated screw fixation group according to the surgical methods. In the total hip arthroplasty group, there were 89 cases, 28 males and 61 females, with an average age of(84.10±3.10) years old;Hollow nail fixation group 55 cases, 20 males and 35 females, with an average age of (86.80±2.88) years. Preoperative patients data, postoperative complications, mortality and postoperative Harris hip score were compared between the two groups. A total of 144 cases were followed up for 12 to 36 months with an average of 18 months. There was no significant difference between two groups in gender, fracture side, preoperative complications, osteoporosis, ASA score, injury to surgery interval, the number of patients admitted to ICU and perioperative death. However, the patients in hollow screw fixation group was older than the joint replacement group(<it</i=5.311, <iP</i<0.05);The degree of preoperative fracture displacement in the joint replacement group was higher than that in the hollow nail fixation group(χ²=6.894, <iP</i=0.009<0.05);Hollow nail fixation group in operation time, hospital stay, intraoperative blood loss, perioperative blood transfusion was significantly better than the number of joint replacement group(<iP</i<0.05);The Harris score of the joint replacement group was higher than that of the hollow screw fixation group(<iP</i<0.05). For elderly femoral neck patients, if there is a significant shift in the fracture (Garden III, IV), the preferred treatment is hip replacement. Postoperative complications are relatively small, satisfactory joint function recovery. If the fracture displacement is not obvious (Garden type I, II) or patients with more medical diseases, poor physical condition, poor surgical tolerance, postoperative life expectancy is not high, the first choice is closed reduction and cannulated screw fixation.

Epidemiology of hip fracture in Japan: incidence and risk factors.

Hip fracture is the most serious complication of osteoporosis and has been recognized as a major public health problem. The prevention of hip fractures is an high-priority issue because of the rapid increase of the number of elderly people in Japan. The General Research Committee for the Prevention and Treatment of Osteoporosis in Silver Health Science Researches sponsored by the Ministry of Health and Welfare (Director, Hajime Orimo) first undertook a nationwide survey of femoral neck fracture in 1987. This nationwide survey has been continued every 5 years, in 1992, 1997, and 2002. The total number of new cases was nearly 120,000 in the latest survey, and has been rising in every survey. Total number of new cases was about 1.4 times the baseline 1987 figures in 1992, 1.7 times in 1997, and 2.2 times in 2002. The total number of new female patients was about three times higher than that of new male patients, a finding identical to those of the previous surveys. The incidences of hip fracture (per 10,000) according to sex and age was increased in both men and women, particularly among individuals 80 years old or over. The Epidemiological Research Group on Osteoporosis, Ministry of Health and Welfare (Chairman; Hajime Orimo) undertook a nation-wide case-control study to clarify the risk factors for hip fractures among Japanese in 1994. Cases of hip fracture in people aged 65-89 were selected from 21 hospitals in seven areas of Japan. Two sex- and age-matched controls were selected from the same residential area for each case using resident registration lists. During this 1-year survey, 249 cases of hip fractures (43 men and 206 women) were reported. The following risk factors for hip fractures were identified using multivariate analysis: past history of stroke with hemiplegia, sleep disturbance, sleeping in a Western-style bed, and drinking more than 3 cups of coffee daily.

[Curative effect analysis on proximal frmoral nail antirotation for the treatment of femoral intertrochanteric fracture and integrity of lateral trochanteric wall].

To explore clinical efficacy and key matters for the treatment of femoral intertrochanteric fracture and integrity of lateral trochanteric wall by proximal frmoral nail antirotation (PFNA). From June 2010 to December 2012,210 femoral intertrochanteric fracture patients treated with PFNA were retrospectively analyzed, including 76 males and 134 females aged from 46 to 96 years old with an average of 71 years old. All fracture were caused by injury and classified to type I (5 cases) type II (16 cases), type III (73 cases) and type IV (116 cases) according to Evans classification. The time of getting out of bed, postoperative complications and displacement of screw blade and fracture healing were observed, Baumgaertner criteria were used to evaluate quality of fracture reduction, Harris criteria were used to evaulate hip joint function. All incisions were healed at stage I, no complications occurred except incomplete of lateral trochanteric wall patients without reconstruction, other patients could get out of bed with crutches at one week and all patients discharged from hospital at 10 days after operation. One hundred and seventy-eight patients were followed up from 3 to 17 months with an average of 10 months. One case occurred unhealed fracture displacement caused by screw blade cutting, 2 cases occurred screw blade transfomed to proximal and out femoral head, other patients obtained fracture healing at 12 to 16 weeks after operation. According to Baumgaertner criteria, 130 cases obtained good results, 45 cases acceptable, and 3 poor; while 107 cases obtained excellent results, 65 good, 3 good and 3 poor according to Harris score. PFNA with mechanical advantage of intramedullary fixation has advantsges of stable fixation, shorter operation time, minimally invasive. Satisfied clinical effects could obtained by grasping fixation principle, dealing with negative factors in operation. Intraoperative reconstruction for integrity of lateral trochanteric wall could assure stable fixation and earlier get out of bed.