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What are the genetic changes related to sensorineural deafness and male infertility ?
Sensorineural deafness and male infertility is caused by a deletion of genetic material on the long (q) arm of chromosome 15. The signs and symptoms of sensorineural deafness and male infertility are related to the loss of multiple genes in this region. The size of the deletion varies among affected individuals. Researchers have determined that the loss of a particular gene on chromosome 15, the STRC gene, is responsible for hearing loss in affected individuals. The loss of another gene, CATSPER2, in the same region of chromosome 15 is responsible for the sperm abnormalities and infertility in affected males. Researchers are working to determine how the loss of additional genes in the deleted region affects people with sensorineural deafness and male infertility.
97,504
Why were the schools inspected?
to gain first-hand material of construction quality
3,748
are there complications from botulism?
Botulism can result in death due to respiratory failure. However, in the past 50 years the proportion of patients with botulism who die has fallen from about 50% to 3-5%. A patient with severe botulism may require a breathing machine as well as intensive medical and nursing care for several months, and some patients die from infections or other problems related to remaining paralyzed for weeks or months. Patients who survive an episode of botulism poisoning may have fatigue and shortness of breath for years and long-term therapy may be needed to aid recovery.
119,101
What are the treatments for multiple system atrophy ?
These resources address the diagnosis or management of multiple system atrophy: - Genetic Testing Registry: Shy-Drager syndrome - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
94,856
What is the Castilian Lanugage known as?
Spanish
5,530
What remained popular in diplomatic, trade and journalistic circles?
"Near East"
21,959
Did the political parties choose those colors?
unlike political color schemes of other countries, the parties did not choose those colors
58,053
What are the treatments for bladder cancer ?
These resources address the diagnosis or management of bladder cancer: - Genetic Testing Registry: Malignant tumor of urinary bladder - MedlinePlus Encyclopedia: Bladder Cancer These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
105,830
What constitutes the viral genome?
RNA
9,474
How many whites were given the possibility of immediate promotion as a result of taking the controversial test?
17
55,016
Do you have information about Over-the-Counter Medicines
Summary : Over-the-counter (OTC) medicines are drugs you can buy without a prescription. Some OTC medicines relieve aches, pains and itches. Some prevent or cure diseases, like tooth decay and athlete's foot. Others help manage recurring problems, like migraines. In the United States, the Food and Drug Administration decides whether a medicine is safe enough to sell over-the-counter. Taking OTC medicines still has risks. Some interact with other medicines, supplements, foods or drinks. Others cause problems for people with certain medical conditions. If you're pregnant, talk to your health care provider before taking any medicines. It is important to take medicines correctly, and be careful when giving them to children. More medicine does not necessarily mean better. You should never take OTC medicines longer or in higher doses than the label recommends. If your symptoms don't go away, it's a clear signal that it's time to see your healthcare provider. Food and Drug Administration
92,787
What time period did the eastward spread of Brahmanism start?
2nd or 3rd centuries
6,776
How many people died in the textile factory riots?
nine
61,373
Why did the Greeks name Palermo Panormos?
meaning "all port" due to the shape of its coast.
66,842
What agreement commits countries to develop resources for sustainability?
the Convention on Biological Diversity
30,080
The phonetical similarity of what thing causes disagreements between linguists?
allophones
23,776
Channel 65 is New Haven's home to what PBS affiliate?
Connecticut Public Television
44,262
What was the cause of the Hamidian Massacres of Armenians?
they were Christians
21,976
What outside affects does this study include?
other languages in contact
15,707
What are the official languages of Telangana?
Telugu and Urdu
75,766
Which governor teamed up with Orozco?
Governor Abraham González
26,105
What does corruption disregard in politics?
formal processes
18,047
The pituitary gland sends hormones through what in the body?
the bloodstream
21,834
In what instance will a match be declared a draw?
if not enough falls are scored by the end of the time limit, the match is declared a draw.
42,941
When was Yale Law School created?
1843
48,925
What is capitalization of significant words applied to in the United States besides titles?
headings
25,939
What was the nationality of Magellan?
Portuguese
69,163
What are the symptoms of Bilateral frontoparietal polymicrogyria ?
What are the signs and symptoms of Bilateral frontoparietal polymicrogyria? The signs and symptoms of bilateral frontoparietal polymicrogyria vary but may include: Moderate to severe intellectual disability Developmental delay Seizures Dysconjugate gaze (eyes that are not aligned) Ataxia Strabismus Increased muscle tone Finger dysmetria (difficulty controlling speed, distance and/or power of movements) The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral frontoparietal polymicrogyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Ankle clonus - Autosomal recessive inheritance - Babinski sign - Broad-based gait - Cerebellar hypoplasia - Cerebral dysmyelination - Esotropia - Exotropia - Frontoparietal polymicrogyria - Hyperreflexia - Hypertonia - Hypoplasia of the brainstem - Intellectual disability - Nystagmus - Polymicrogyria, anterior to posterior gradient - Seizures - Truncal ataxia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
112,235
What are the genetic changes related to DOLK-congenital disorder of glycosylation ?
DOLK-CDG is caused by mutations in the DOLK gene. This gene provides instructions for making the enzyme dolichol kinase, which facilitates the final step of the production of a compound called dolichol phosphate. This compound is critical for a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation changes proteins in ways that are important for their functions. During glycosylation, sugars are added to dolichol phosphate in order to build the oligosaccharide chain. Once the chain is formed, dolichol phosphate transports the oligosaccharide to the protein that needs to be glycosylated and attaches it to a specific site on the protein. Mutations in the DOLK gene lead to the production of abnormal dolichol kinase with reduced or absent activity. Without properly functioning dolichol kinase, dolichol phosphate is not produced and glycosylation cannot proceed normally. In particular, a protein known to stabilize heart muscle fibers, called alpha-dystroglycan, has been shown to have reduced glycosylation in people with DOLK-CDG. Impaired glycosylation of alpha-dystroglycan disrupts its normal function, which damages heart muscle fibers as they repeatedly contract and relax. Over time, the fibers weaken and break down, leading to dilated cardiomyopathy. The other signs and symptoms of DOLK-CDG are likely due to the abnormal glycosylation of additional proteins in other organs and tissues.
95,259
How many people are affected by Cornelia de Lange syndrome ?
Although the exact incidence is unknown, Cornelia de Lange syndrome likely affects 1 in 10,000 to 30,000 newborns. The condition is probably underdiagnosed because affected individuals with mild or uncommon features may never be recognized as having Cornelia de Lange syndrome.
95,003
What was the name of the patent over which Creative asserted its ownership?
Zen Patent
2,693
What are the symptoms of Bamforth syndrome ?
What are the signs and symptoms of Bamforth syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Bamforth syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Choanal atresia 90% Cognitive impairment 90% Hypothyroidism 90% Oral cleft 90% Pili torti 90% Polyhydramnios 90% Autosomal recessive inheritance - Bifid epiglottis - Cleft palate - Thyroid agenesis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
109,556
What part of the statue of Theodore Dwight Woolsey is it said to be good luck to rub?
the toe
49,080
Two important Amniotes lineages became distinct, what was the name of that distinction?
the synapsids
42,557
When is the perspective aspect of a verb used?
action was completed, instantaneous, or of limited duration
64,044
What are the treatments for glycogen storage disease type 0 ?
These resources address the diagnosis or management of glycogen storage disease type 0: - Genetic Testing Registry: Glycogen storage disease 0, muscle - Genetic Testing Registry: Hypoglycemia with deficiency of glycogen synthetase in the liver These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
109,225
The CCU holds, in addition to a music theater, what?
National Library
43,585
What neighbours south Jiangsu to the north?
Zhejiang
22,299
Do you have information about Infant and Newborn Nutrition
Summary : Food provides the energy and nutrients that babies need to be healthy. For a baby, breast milk is best. It has all the necessary vitamins and minerals. Infant formulas are available for babies whose mothers are not able or decide not to breastfeed. Infants usually start eating solid foods between 4 and 6 months of age. Check with your health care provider for the best time for your baby to start. If you introduce one new food at a time, you will be able to identify any foods that cause allergies in your baby. Some foods to stay away from include - Eggs - Honey - Peanuts (including peanut butter) - Other tree nuts
117,845
What are the treatments for carbamoyl phosphate synthetase I deficiency ?
These resources address the diagnosis or management of carbamoyl phosphate synthetase I deficiency: - Baby's First Test - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Congenital hyperammonemia, type I - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
93,426
What is the main purpose of a refractor?
spatial characteristics
75,450
What encoding did early Macs use?
ISO/IEC 8859-5
81,734
What is composed of two rotations?
a rotation
62,623
What did the KKK target with violence and terrorism at the polls?
black voting
55,820
Who of the male members feature on the order?
Wives of male members of all classes also feature on the order of precedence, as do sons, daughters and daughters-in-law
33,827
Who is at risk for Urinary Tract Infection In Adults? ?
Although everyone has some risk, some people are more prone to getting UTIs than others. People with spinal cord injuries or other nerve damage around the bladder have difficulty emptying their bladder completely, allowing bacteria to grow in the urine that stays in the bladder. Anyone with an abnormality of the urinary tract that obstructs the flow of urinea kidney stone or enlarged prostate, for exampleis at risk for a UTI. People with diabetes or problems with the bodys natural defense system are more likely to get UTIs. Sexual activity can move microbes from the bowel or vaginal cavity to the urethral opening. If these microbes have special characteristics that allow them to live in the urinary tract, it is harder for the body to remove them quickly enough to prevent infection. Following sexual intercourse, most women have a significant number of bacteria in their urine, but the body normally clears them within 24 hours. However, some forms of birth control increase the risk of UTI. In some women, certain spermicides may irritate the skin, increasing the risk of bacteria invading surrounding tissues. Using a diaphragm may slow urinary flow and allow bacteria to multiply. Condom use is also associated with increased risk of UTIs, possibly because of the increased trauma that occurs to the vagina during sexual activity. Using spermicides with diaphragms and condoms can increase risk even further. Another common source of infection is catheters, or tubes, placed in the urethra and bladder. Catheters interfere with the bodys ability to clear microbes from the urinary tract. Bacteria travel through or around the catheter and establish a place where they can thrive within the bladder. A person who cannot urinate in the normal way or who is unconscious or critically ill often needs a catheter for more than a few days. The Infectious Diseases Society of America recommends using catheters for the shortest time possible to reduce the risk of a UTI.3 Recurrent Infections Many women suffer from frequent UTIs. About 20 percent of young women with a first UTI will have a recurrent infection.4 With each UTI, the risk that a woman will continue having recurrent UTIs increases.5 Some women have three or more UTIs a year. However, very few women will have frequent infections throughout their lives. More typically, a woman will have a period of 1 or 2 years with frequent infections, after which recurring infections cease. Men are less likely than women to have a first UTI. But once a man has a UTI, he is likely to have another because bacteria can hide deep inside prostate tissue. Anyone who has diabetes or a problem that makes it hard to urinate may have repeat infections. Research funded by the National Institutes of Health (NIH) suggests that one factor behind recurrent UTIs may be the ability of bacteria to attach to cells lining the urinary tract. One NIH-funded study found that bacteria formed a protective film on the inner lining of the bladder in mice.6 If a similar process can be demonstrated in humans, the discovery may lead to new treatments to prevent recurrent UTIs. Another line of research has indicated that women who are nonsecretors of certain blood group antigens may be more prone to recurrent UTIs because the cells lining the vagina and urethra may allow bacteria to attach more easily. A nonsecretor is a person with an A, B, or AB blood type who does not secrete the normal antigens for that blood type in bodily fluids, such as fluids that line the bladder wall.7 Infections during Pregnancy Pregnant women seem no more prone to UTIs than other women. However, when a UTI does occur in a pregnant woman, it is more likely to travel to the kidneys. According to some reports, about 4 to 5 percent of pregnant women develop a UTI.8 Scientists think that hormonal changes and shifts in the position of the urinary tract during pregnancy make it easier for bacteria to travel up the ureters to the kidneys and cause infection. For this reason, health care providers routinely screen pregnant women for bacteria in the urine during the first 3 months of pregnancy.
119,324
What is (are) Acute Bronchitis ?
Bronchitis is an inflammation of the bronchial tubes, the airways that carry air to your lungs. It causes a cough that often brings up mucus. It can also cause shortness of breath, wheezing, a low fever, and chest tightness. There are two main types of bronchitis: acute and chronic. Most cases of acute bronchitis get better within several days. But your cough can last for several weeks after the infection is gone. The same viruses that cause colds and the flu often cause acute bronchitis. These viruses spread through the air when people cough, or though physical contact (for example, on unwashed hands). Being exposed to tobacco smoke, air pollution, dusts, vapors, and fumes can also cause acute bronchitis. Less often, bacteria can also cause acute bronchitis. To diagnose acute bronchitis, your health care provider will ask about your symptoms and listen to your breathing. You may also have other tests. Treatments include rest, fluids, and aspirin (for adults) or acetaminophen to treat fever. A humidifier or steam can also help. You may need inhaled medicine to open your airways if you are wheezing. Antibiotics won't help if the cause is viral. You may get antibiotics if the cause is bacterial. NIH: National Heart, Lung, and Blood Institute
117,930
When did CBC end its Doctor Who contributions?
the end of fourth season, broadcast in 2008
67,214
What was the name of the period before the Heian era?
Nara
56,044
Who gave John Couch Adams extra data?
Sir George Airy
71,910
What are the genetic changes related to aspartylglucosaminuria ?
Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). AGA gene mutations result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. As a result, glycoproteins can build up within the lysosomes. Excess glycoproteins disrupt the normal functions of the cell and can result in destruction of the cell. A buildup of glycoproteins seems to particularly affect nerve cells in the brain; loss of these cells causes many of the signs and symptoms of aspartylglucosaminuria.
105,878
What percentage of exported goods from Swaziland end up in South Africa?
70%
80,356
According to Thomas Jefferson, when the media is free and people are literate they are what?
safe
18,141
What is the outlook for Angelman Syndrome ?
Most individuals with Angelman syndrome will have severe developmental delays, speech limitations, and motor difficulties. However, individuals with Angelman syndrome can have normal life spans and generally do not show developmental regression as they age. Early diagnosis and tailored interventions and therapies help improve quality of life.
87,939
What causes X-linked dominant scapuloperoneal myopathy ?
What causes X-linked dominant scapuloperoneal myopathy? X-linked dominant scapuloperoneal myopathy is caused by mutations in the FHL1 gene. The FHL1 gene is located on chromosome Xq26. This gene may be involved in muscle development or hypertrophy.
110,687
What kind of toy were the original Digimon?
virtual pet toy
54,268
Is Hermansky-Pudlak syndrome inherited ?
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
107,059
Do you have information about Indoor Air Pollution
Summary : We usually think of air pollution as being outdoors, but the air in your house or office could also be polluted. Sources of indoor pollution include - Mold and pollen - Tobacco smoke - Household products and pesticides - Gases such as radon and carbon monoxide - Materials used in the building such as asbestos, formaldehyde and lead Sometimes a group of people have symptoms that seem to be linked to time spent in a certain building. There may be a specific cause, such as Legionnaire's disease. Sometimes the cause of the illness cannot be found. This is known as sick building syndrome. Usually indoor air quality problems only cause discomfort. Most people feel better as soon as they remove the source of the pollution. However, some pollutants can cause diseases that show up much later, such as respiratory diseases or cancer. Making sure that your building is well-ventilated and getting rid of pollutants can improve the quality of your indoor air. Environmental Protection Agency
117,478
According to Australian nationality law, time spent by a permanent Australian resident on Norfolk Island will do what?
count as time spent in Australia
50,015
What is (are) Wildervanck syndrome ?
Wildervanck syndrome is a condition that occurs almost exclusively in females and affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder that is present from birth), and hearing loss. The cause of Wildervanck syndrome is unknown. In most cases, affected individuals have no family history of the condition.
114,238
Which war did Albert serve in?
First World War
50,636
What group did Otto I defeat?
Magyars
23,419
What is (are) Todd's Paralysis ?
Todd's paralysis is a neurological condition experienced by individuals with epilepsy, in which a seizure is followed by a brief period of temporary paralysis. The paralysis may be partial or complete but usually occurs on just one side of the body. The paralysis can last from half an hour to 36 hours, with an average of 15 hours, at which point it resolves completely. Todd's paralysis may also affect speech and vision. Scientists don't know what causes Todd's paralysis. Current theories propose biological processes in the brain that involve a slow down in either the energy output of neurons or in the motor centers of the brain. It is important to distinguish Todd's paralysis from a stroke, which it can resemble, because a stroke requires completely different treatment.
87,897
Mrigavyadha means what?
deer hunter
87,054
In what year did the original Sorin built Main Building get replaced?
1865
206
how is rabies diagnosed?
In animals, rabies is diagnosed using the direct fluorescent antibody (DFA) test, which looks for the presence of rabies virus antigens in brain tissue. In humans, several tests are required. Rapid and accurate laboratory diagnosis of rabies in humans and other animals is essential for timely administration of postexposure prophylaxis. Within a few hours, a diagnostic laboratory can determine whether or not an animal is rabid and inform the responsible medical personnel. The laboratory results may save a patient from unnecessary physical and psychological trauma, and financial burdens, if the animal is not rabid. In addition, laboratory identification of positive rabies cases may aid in defining current epidemiologic patterns of disease and provide appropriate information for the development of rabies control programs. The nature of rabies disease dictates that laboratory tests be standardized, rapid, sensitive, specific, economical, and reliable.
119,176
What are the treatments for Lung Cancer ?
- Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. Surgery is an operation to remove the cancer. Depending on the location of the tumor, the surgeon may remove a small part of the lung, a lobe of the lung, or the entire lung. - Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. Conventional chemotherapy uses anti-cancer drugs to kill cancer cells throughout the body. Doctors use chemotherapy to control cancer growth and relieve symptoms. Anti-cancer drugs are given by injection; through a catheter, a long thin tube temporarily placed in a large vein; or in pill form. - Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area. Radiation therapy uses high-energy beams to kill cancer cells and shrink tumors. An external machine delivers radiation to a limited area, affecting cancer cells only in that area. Doctors may use radiation therapy before surgery to shrink a tumor or after surgery to destroy any cancer cells remaining in the treated area.
90,982
What causes Acute intermittent porphyria ?
What causes acute intermittent porphyria (AIP)? AIP is caused by the deficiency of an enzyme called porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase (HMBS) and formerly known as uroporphyrinogen I-synthase. The deficiency of PBGD is caused by a mutation in the HMBS gene. The HMBS gene is the only gene known to be associated with AIP. However, the deficiency of PBGD alone is not enough to cause AIP. Other activating factors (e.g., hormones, drugs, dietary changes) must also be present.
110,989
Goddard collected mainly what type of Buddhist scripture?
Zen
6,910
Is Klippel Feil syndrome inherited ?
Is Klippel Feil syndrome inherited? In some cases, Klippel Feil syndrome (KFS) appears to occur randomly for unknown reasons (sporadically). In other cases, the condition appears to be genetic and may occur in more than one person in a family. Both autosomal dominant and autosomal recessive inheritance patterns have been reported, with different responsible genes. When KFS is caused by changes (mutations) in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene is enough to cause features of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. When KFS is caused by mutations in the MEOX1 gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both copies of the responsible gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one mutated copy of the gene and are referred to as carriers. Carriers are typically unaffected. When two carriers of the same autosomal recessive condition have children, each child has a 25% (1 in 4) risk to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% risk to be unaffected and not be a carrier. When KFS occurs as a feature of another condition, the inheritance pattern follows that of the other condition.
98,806
When did the Mapuche surrender to the Chilean army?
1880s
82,948
How many inches of rain does southern Nigeria get each year?
60 to 80 inches
52,992
What happens to most intermarried people in the orthodox community?
cut off
27,266
How many months are in the Shamsi Hijri calendar?
twelve months
79,309
What is the name of the god of death?
Yama
8,110
What are the symptoms of Spondylometaphyseal dysplasia X-linked ?
What are the signs and symptoms of Spondylometaphyseal dysplasia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the nail - Anteverted nares - Coarse facial features - Depressed nasal bridge - Enlarged joints - Hip contracture - Hyperextensibility of the finger joints - Hypertelorism - Intellectual disability, mild - Knee flexion contracture - Kyphosis - Neurological speech impairment - Nystagmus - Pectus carinatum - Platyspondyly - Respiratory failure - Sclerosis of skull base - Severe short stature - Spondylometaphyseal dysplasia - Strabismus - Tapered finger - Thoracolumbar scoliosis - Wide nasal bridge - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
113,252
How many people are affected by Amish lethal microcephaly ?
Amish lethal microcephaly occurs in approximately 1 in 500 newborns in the Old Order Amish population of Pennsylvania. It has not been found outside this population.
98,018
Which disease did Arline succumb to?
tuberculosis
70,592
What is (are) ALG6-congenital disorder of glycosylation ?
ALG6-congenital disorder of glycosylation (ALG6-CDG, also known as congenital disorder of glycosylation type Ic) is an inherited condition that affects many parts of the body. The signs and symptoms of ALG6-CDG vary widely among people with the condition. Individuals with ALG6-CDG typically develop signs and symptoms of the condition during infancy. They may have difficulty gaining weight and growing at the expected rate (failure to thrive). Affected infants often have weak muscle tone (hypotonia) and developmental delay. People with ALG6-CDG may have seizures, problems with coordination and balance (ataxia), or stroke-like episodes that involve an extreme lack of energy (lethargy) and temporary paralysis. They may also develop blood clotting disorders. Some individuals with ALG6-CDG have eye abnormalities including eyes that do not look in the same direction (strabismus) and an eye disorder called retinitis pigmentosa, which causes vision loss. Females with ALG6-CDG have hypergonadotropic hypogonadism, which affects the production of hormones that direct sexual development. As a result, most females with ALG6-CDG do not go through puberty.
108,066
In what part of India is Delhi located?
the centre of northern India
24,538
What new type of architecture was starting to come into being at this time?
Modern Architecture
10,965
What is a deistic view of God?
God exists, but does not intervene in the world beyond what was necessary to create it
63,335
What is the name of the Seventh-day Adventist's core beliefs?
the 28 Fundamental Beliefs
84,651
What are the genetic changes related to craniofacial microsomia ?
It is unclear what genes are involved in craniofacial microsomia. This condition results from problems in the development of structures in the embryo called the first and second pharyngeal arches (also called branchial or visceral arches). Tissue layers in the six pairs of pharyngeal arches give rise to the muscles, arteries, nerves, and cartilage of the face and neck. Specifically, the first and second pharyngeal arches develop into the lower jaw, the nerves and muscles used for chewing and facial expression, the external ear, and the bones of the middle ear. Interference with the normal development of these structures can result in the abnormalities characteristic of craniofacial microsomia. There are several factors that can disrupt the normal development of the first and second pharyngeal arches and lead to craniofacial microsomia. Some individuals with this condition have chromosomal abnormalities such as deletions or duplications of genetic material; these individuals often have additional developmental problems or malformations. Occasionally, craniofacial microsomia occurs in multiple members of a family in a pattern that suggests inheritance of a causative gene mutation, but the gene or genes involved are unknown. In other families, individuals seem to inherit a predisposition to the disorder. The risk of craniofacial microsomia can also be increased by environmental factors, such as certain drugs taken by the mother during pregnancy. In most affected individuals, the cause of the disorder is unknown. It is not well understood why certain disruptions to development affect the first and second pharyngeal arches in particular. Researchers suggest that these structures may develop together in such a way that they respond as a unit to these disruptions.
96,354
What year did 6 different Iranian films of six different styles represent at the Berlin International Film Festival?
2006
79,575
What's the abbreviation for immersion silver plating?
IAg
77,373
Who was executed on October 30, 2012?
Donald Moeller
35,222
What are the treatments for Inguinal Hernia ?
Repair of an inguinal hernia via surgery is the only treatment for inguinal hernias and can prevent incarceration and strangulation. Health care providers recommend surgery for most people with inguinal hernias and especially for people with hernias that cause symptoms. Research suggests that men with hernias that cause few or no symptoms may be able to safely delay surgery until their symptoms increase.3,6 Men who delay surgery should watch for symptoms and see a health care provider regularly. Health care providers usually recommend surgery for infants and children to prevent incarceration.1 Emergent, or immediate, surgery is necessary for incarcerated or strangulated hernias. A general surgeona doctor who specializes in abdominal surgeryperforms hernia surgery at a hospital or surgery center, usually on an outpatient basis. Recovery time varies depending on the size of the hernia, the technique used, and the age and health of the person. Hernia surgery is also called herniorrhaphy. The two main types of surgery for hernias are - Open hernia repair. During an open hernia repair, a health care provider usually gives a patient local anesthesia in the abdomen with sedation; however, some patients may have - sedation with a spinal block, in which a health care provider injects anesthetics around the nerves in the spine, making the body numb from the waist down - general anesthesia - The surgeon makes an incision in the groin, moves the hernia back into the abdomen, and reinforces the abdominal wall with stitches. Usually the surgeon also reinforces the weak area with a synthetic mesh or screen to provide additional support. - Laparoscopic hernia repair. A surgeon performs laparoscopic hernia repair with the patient under general anesthesia. The surgeon makes several small, half-inch incisions in the lower abdomen and inserts a laparoscopea thin tube with a tiny video camera attached. The camera sends a magnified image from inside the body to a video monitor, giving the surgeon a close-up view of the hernia and surrounding tissue. While watching the monitor, the surgeon repairs the hernia using synthetic mesh or screen. People who undergo laparoscopic hernia repair generally experience a shorter recovery time than those who have an open hernia repair. However, the surgeon may determine that laparoscopy is not the best option if the hernia is large or if the person has had previous pelvic surgery. Most adults experience discomfort and require pain medication after either an open hernia repair or a laparoscopic hernia repair. Intense activity and heavy lifting are restricted for several weeks. The surgeon will discuss when a person may safely return to work. Infants and children also experience some discomfort; however, they usually resume normal activities after several days. Surgery to repair an inguinal hernia is quite safe, and complications are uncommon. People should contact their health care provider if any of the following symptoms appear: - redness around or drainage from the incision - fever - bleeding from the incision - pain that is not relieved by medication or pain that suddenly worsens Possible long-term complications include - long-lasting pain in the groin - recurrence of the hernia, requiring a second surgery - damage to nerves near the hernia
89,135
What societal evolution helped to develop drama and satire by providing a ready audience?
urban culture
52,256
What is (are) Myotonic dystrophy type 1 ?
Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene.
113,569
Who wrote that a Soviet invasion of Japan was unlikely?
Richard B. Frank
78,603
What is the FBI's main tool against organized crime?
RICO
30,535
Where did the torch relay happen in India?
New Delhi
8,392
Along with firmness, soundness, and form, what property of a knot is classified?
size
22,662
Who wrote "Childe Harold's Pilgrimage: Canto I"?
Lord Byron
52,251
What are the genetic changes related to familial male-limited precocious puberty ?
Familial male-limited precocious puberty can be caused by mutations in the LHCGR gene. This gene provides instructions for making a receptor protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens. Androgens, including testosterone, are the hormones that control male sexual development and reproduction. In females, luteinizing hormone triggers the release of egg cells from the ovaries (ovulation); chorionic gonadotropin is produced during pregnancy and helps maintain conditions necessary for the pregnancy to continue. Certain LHCGR gene mutations result in a receptor protein that is constantly turned on (constitutively activated), even when not attached (bound) to luteinizing hormone or chorionic gonadotropin. In males, the overactive receptor causes excess production of testosterone, which triggers male sexual development and lead to early puberty in affected individuals. The overactive receptor has no apparent effect on females. Approximately 18 percent of individuals with familial male-limited precocious puberty have no identified LHCGR gene mutation. In these individuals, the cause of the disorder is unknown.
104,488
Who are the other makers from the Loar period?
Lyon and Healy, Vega and Larson Brothers
64,505
What is the permutation when a person lacks exploration and commitment?
identity diffusion
26,854
What did these children do on that day?
performed ceremonies
3,561
What tribe was Arsaces the leader of?
Parni
38,660