Made by DATEXIS (Data Science and Text-based Information Systems) at Beuth University of Applied Sciences Berlin
Deep Learning Technology: Sebastian Arnold, Betty van Aken, Paul Grundmann, Felix A. Gers and Alexander Löser. Learning Contextualized Document Representations for Healthcare Answer Retrieval. The Web Conference 2020 (WWW'20)
Funded by The Federal Ministry for Economic Affairs and Energy; Grant: 01MD19013D, Smart-MD Project, Digital Technologies
There is no known cure for Winchester syndrome; however, there are many therapies that can aid in the treatment of symptoms. Such treatments can include medications: anti-inflammatories, muscle relaxants, and antibiotics. Many individuals will require physical therapy to promote movement and use of the limbs affected by the syndrome. Genetic counseling is typically prescribed for families to help aid in the understanding of the disease. There are a few clinical trials available to participate in. The prognosis for patients diagnosed with Winchester syndrome is positive. It has been reported that several affected individuals have lived to middle age; however,the disease is progressive and mobility will become limited towards the end of life. Eventually, the contractures will remain even with medical intervention, such as surgery.
In regards to treatment of hypochondroplasia usually takes the form of orthopedic surgery and physical therapy. Genetic counseling is advised for individuals and their families. Specifically in the case of spinal stenosis, one option is laminectomy.
Patients presenting with this disease undergo antibiotic treatment and gammaglobulin transfusions. Antibiotics are used to fight off the pathogenic organisms and the gammaglobulin helps provide a normal balance of antibodies to fight the infection. Bone marrow transplantation may be an option in some cases.
OMIM: 308230
There is no known cure for Rabson–Mendenhall syndrome. However, a series of steps can be directed towards treating the specific symptoms. For example, surgery may be performed to treat dental abnormalities. Furthermore, the goal of the treatment is also to maintain blood glucose levels as constantly as possible. Insulin is not as effective at normal doses, and even large doses show minimal effects. Frequent feeding is the most effective treatment to control blood glucose levels. Well thought out meals with complex combinations of carbohydrates are put together and assigned to the patient in hope of seeing a constant glucose level maintained. Though effective, these treatments tend to show more of an impact initially, and can become ineffective within months.
Treatment of Rabson–Mendenhall syndrome with pharmacologic doses of human leptin may result in improvement of fasting hyperglycemia, hyperinsulinemia, basal glucose, and glucose and insulin tolerance.
Quality of life is impacted severely and the prognosis of patients with Rabson–Mendenhall syndrome remains poor. This is due to the lack of a long term treatment. Life expectancy is 1–2 years.
Recent research has been directed towards finding better treatment options. Multi-drug therapy using insulin sensitizers, such as metformin and pioglitazone, has been linked to improving residual insulin action. High doses of insulin-like growth factor 1 has also been effective in patients with Rabson–Mendenhall syndrome. Future studies are also focusing on the relation between genotype and phenotype. Though there is no cure, researchers remain optimistic on finding a cure.
Treatment is only necessary if the degree of curvature is sufficient to cause disability or if it causes emotional distress. Splinting does not routinely correct the deformity. Surgical treatments are closing wedge osteotomy, opening wedge osteotomy, and reversed wedge osteotomy. Radiographs of the fingers are useful in planning the surgical procedure. Severe clinodactyly may require soft tissue alterations to the digit such as release of skin, extensor tendon relocation, and collateral ligament advancement.
Treatment is limited. Drugs can alleviate the symptoms, such as sleep difficulties and epilepsy. Physiotherapy helps affected children retain the ability to remain upright for as long as possible, and prevents some of the pain.
Recent attempts to treat INCL with cystagon have been unsuccessful.
Treatment can involve operations to lengthen the leg bones, which involves many visits to the hospital. Other symptoms can be treated with medicine or surgery. Most female patients with the syndrome can live a long and normal life, while males have only survived in rare cases.
Life expectancy for individuals with hypochondroplasia is normal; the maximum height is about 147 cm or 4.8 ft.
There is no cure for Pseudo-Hurler Polydystrophy/Mucolipidosis IIIA. Treatment is limited to controlling or reducing symptoms associated with this disorder. Physio-therapy, particularly hydrotherapy has proven effective at relieving muscle stiffness and increasing mobility. The use of crutches, a wheelchair or scooters are treatment options as the metabolic bone disease progresses. The insertion of rods in the spine to stabilize the vulnerable areas can treat scoliosis. Heart valve replacement surgery may be necessary as this disorder progresses.
Midphalangeal hair, or the presence/absence of hair on the middle phalanx of the ring finger, is one of the most widely studied markers in classical genetics of human populations. Although this polymorphism was observed at other fingers as well, for this kind of research, the fourth finger of the hand has been conventionally selected.
Individuals heterozygous for the Hb Lepore request no particular treatment. There is no anemia or, if there is, it is very mild.
In humans, hair is commonly present on all the basal segments of the digits and invariably absent from all the terminal ones. On the middle segments, there is wide fluctuation with apparent familial and racial tendencies. Hair is present on the middle segment of the fingers more frequently than on the middle segment of the toes. Hair is most often found on the middle segment of the fourth finger.
Pili annulati (also known as "ringed hair") is a genetic trait in which the hair seems banded by alternating segments of light and dark color when seen in reflected light.
Spider lamb syndrome, also known as spider syndrome and more formally as ovine hereditary chondrodysplasia, is a homozygous recessive disorder affecting the growth of cartilage and bone in sheep. It is a semilethal trait, which is thought to have been first observed in the 1970s, and is most common in sheep of the Suffolk and Hampshire breeds. The mutation which causes spider lamb syndrome is found on ovine chromosome 6, and involves the inactivation of fibroblast growth factor receptor 3.
Afflicted animals may be visibly deformed at birth and unable to stand, or seemingly normal for the first 4 to 6 weeks of their lives.
The name derives from the limbs of afflicted animals being thin, elongated, and "spider-like".
Economic uses of sterility include:
- the production of certain kinds of seedless fruit, such as seedless tomato or watermelon (though sterility is not the only available route to fruit seedlessness);
- terminator technology, methods for restricting the use of genetically modified plants by causing second generation seeds to be sterile;
- biological control; for example, trap-neuter-return programs for cats; and the sterile insect technique, in which large numbers of sterile insects are released, which compete with fertile insects for food and mates, thus reducing the population size of subsequent generations, which can be used to fight diseases spread by insect vectors such as malaria in mosquitoes.
Darwin's tubercle (or auricular tubercle) is a congenital ear condition which often presents as a thickening on the helix at the junction of the upper and middle thirds.
People with severe thalassemia require medical treatment. A blood transfusion regimen was the first measure effective in prolonging life.
Multiple blood transfusions can result in iron overload. The iron overload related to thalassemia may be treated by chelation therapy with the medications deferoxamine, deferiprone, or deferasirox. These treatments have resulted in improving life expectancy in those with thalassemia major.
Deferoxamine is only effective via daily injections which makes its long-term use more difficult. It has the benefit of being inexpensive and decent long-term safety. Adverse effects are primary skin reactions around the injection site and hearing loss.
Deferasirox has the benefit of being an oral medication. Common side effects include: nausea, vomiting and diarrhea. It however is not effective in everyone and is probably not suitable in those with significant cardiac issues related to iron overload. The cost is also significant.
Deferiprone is a medication that is given by mouth. Nausea, vomiting, and diarrhea are relatively common with its use. It is available in both Europe and the United States. It appears to be the most effective agent when the heart is significantly involved.
There is no evidence from randomized controlled trial to support zinc supplementation in thalassemia.
Pure hair-nail type ectodermal dysplasia is a genetic mutation in the "hair matrix and cuticle keratin KRTHB5 gene" that causes ectodermal dysplasia of hair and nail type. Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait.
There is no cure for GSS, nor is there any known treatment to slow the progression of the disease. However, therapies and medication are aimed at treating or slowing down the effects of the symptoms. Their goal is to try to improve the patient's quality of life as much as possible. Despite there being no cure for GSS, it is possible to undergo testing for the presence of the underlying genetic mutation. Testing for GSS involves a blood and DNA examination in order to attempt to detect the mutated gene at certain codons. If the genetic mutation is present, the patient will eventually be afflicted by GSS, and, due to the genetic nature of the disease, the offspring of the patient are predisposed to a higher risk of inheriting the mutation.
Blau Syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and joints. It is caused by a mutation in the NOD2 (CARD15) gene. Symptoms usually begin before the age of 4, and the disease manifests as early onset cutaneous sarcoidosis, granulomatous arthritis, and uveitis.
Scotty Cramp is a disease in Scottish Terriers causing spasms and hyperflexion and hyperextension of the legs. It is caused by a disorder in serotonin metabolism that causes a deficiency of available serotonin. It is inherited as an autosomal recessive trait.
Scotty Cramp occurs in puppies and young dogs. Symptoms present after exercise or excitement and last a few minutes. A goose-stepping gait and arched spine are often seen, and the dogs may turn somersaults as it runs. The symptoms usually resolve after ten minutes, but they may repeat several times in a day. If the diagnosis is unsure, a dose of methysergide can be given. In affected dogs, this will block serotonin and increase the frequence and severity of the symptoms. Diazepam or acepromazine is used to control the symptoms of Scotty Cramp. Vitamin E may also be of some benefit. Because Scotty Cramp is inherited, affected dogs and their parents and siblings should not be bred.
Usually no treatment is needed. Folic acid supplementation may help produce normal red blood cells and improve the symptoms of anemia
This atavistic feature is so called because its description was first published by Charles Darwin in the opening pages of "The Descent of Man, and Selection in Relation to Sex", as evidence of a vestigial feature indicating common ancestry among primates which have pointy ears. However, Darwin himself named it the Woolnerian tip, after Thomas Woolner, a British sculptor who had depicted it in one of his sculptures and had first theorised that it was an atavistic feature.