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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)
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Treatment usually involves plastic and reconstructive surgery. Surgery may be needed to correct undescended testes or hernias.
While Larsen syndrome can be lethal if untreated, the prognosis is relatively good if individuals are treated with orthopedic surgery, physical therapy, and other procedures used to treat the symptoms linked with Larsen syndrome.
There is no known curative treatment presently. Hearing aids and cataract surgery may be of use. Control of seizures, heart failure and treatment of infection is important. Tube feeding may be needed.
The syndrome is named after Turkish (Asim Cenani) and German (Widukind Lenz) medical geneticists.
Treatment for Larsen syndrome varies according to the symptoms of the individual. Orthopedic surgery can be performed to correct the serious joint defects associated with Larsen syndrome. Reconstructive surgery can be used to treat the facial abnormalities. Cervical kyphosis can be very dangerous to an individual because it can cause the vertebrae to disturb the spinal cord. Posterior cervical arthrodesis has been performed on patients with cervical kyphosis, and the results have been successful Propranolol has been used to treat some of the cardiac defects associated with Marfan's syndrome, so the drug also has been suggested to treat cardiac defects associated with Larsen syndrome.
In terms of treatment/management for those with Mulibrey nanism should have routine medical follow-ups, additionally the following can be done:
- Growth hormone treatment
- Regular pelvic exams
- Pericardiectomy
Treatment with isotretinoin may induce substantial resolution of skin lesions, but the risk of secondary infection remains.
Tetra-amelia syndrome has been reported in only a few families worldwide.
According to a 2011 study by Bermejo-Sanchez, amelia – that is, the lacking of one or more limbs – occurs in roughly 1 out of every 71,000 pregnancies.
A review from 2000 stated that life expectancy was reduced because of a tendency to develop cancer relatively early as well as deaths due to infections related to immunodeficiency.
The recurrence of DOOR in siblings and the finding of DOOR syndrome in a few families with consanguinity suggest that the condition is an autosomal recessive genetic condition. Mutations in TBC1D24 have been identified in 9 families.
Cenani–Lenz syndactylism, also known as Cenani–Lenz syndrome or Cenani–syndactylism, is an autosomal recessive congenital malformation syndrome involving both upper and lower extremities.
Renal dysplasia-limb defects syndrome (RL syndrome), also known as Ulbright–Hodes syndrome, is a very rare autosomal recessive congenital disorder. It has been described in three infants, all of whom died shortly after birth.
Nager syndrome is thought to be caused by haploinsufficiency of the spliceosomal factor SF3B4.
ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder.
Antley–Bixler syndrome, also called trapezoidocephaly-synostosis syndrome, is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.
Worldwide, it has been documented in 110 persons, 85 of them Finnish. It is a recessive genetic disease. Many people with Mulibrey nanism have parents who are closely related, consanguine. Signs and symptoms are variable, siblings who suffer this disease sometimes do not share the same symptoms.
Treatment for this condition entails surveillance of growth and contractures. Furthermore the following are treatment options:
- Thyroid hormone replacement
- Speech therapy
- Hearing aids
In terms of treatment for individuals with Nezelof syndrome, which was first characterized in 1964, includes the following(how effective bone marrow transplant is uncertain) :
- Antimicrobial therapy
- IV immunoglobulin
- Bone marrow transplantation
- Thymus transplantation
- Thymus factors
RL syndrome is characterized by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion (joining of radius and humerus), rib abnormalities, anomalies of the external genitalia and potter-like facies among many others.
Zamzam–Sheriff–Phillips syndrome is a rare autosomal recessive congenital disorder. It is characterized by aniridia, ectopia lentis, abnormal upper incisors and intellectual disability. Not a lot of research has been undertaken of this particular disease so thus far there is no known gene that affects this condition. However it has been hypothesised that the symptoms described are found at a particular gene, though intellectual disability is believed to be due to a different genetic cause.
Consanguinuity (intermarrying among relatives such as cousins), often associated with autosomal recessive inheritance, has been attributed to the inheritance of this disease.
Tetra-amelia syndrome ("" + "amelia"), also called autosomal recessive tetraamelia, is an extremely rare autosomal recessive congenital disorder characterized by the absence of all four limbs. Other areas of the body are also affected by malformations, such as the face, skull, reproductive organs, anus and pelvis. The disorder is caused by mutations in the WNT3 gene.
Most patients with hyper IgE syndrome are treated with long-term antibiotic therapy to prevent staphylococcal infections. Good skin care is also important in patients with hyper IgE syndrome. High-dose intravenous gamma-globulin has also been suggested for the treatment of severe eczema in patients with HIES and atopic dermatitis.
There is no treatment for NBS, however in those with agammaglobulinemia, intravenous immunoglobulin may be started. Prophylactic antibiotics are considered to prevent urinary tract infections as those with NBS often have congenital kidney malformations. In the treat of malignancies radiation, alkylating antineoplastic agents, and epipodophyllotoxins are not used, and methotrexate can be used with caution and, the dose should be limited. Bone marrow transplants and hematopoietic stem cells transplants are also considered in the treatment of NBS. The supplementation of Vitamin E is also recommended. A ventriculoperitoneal shunt can be placed in patients with hydrocephaly, and surgical intervention of congenital deformities is also attempted.
Ablepharon macrostomia syndrome (AMS) is an extremely rare autosomal recessive genetic disorder characterized by malformations of the skull, skin, fingers and genitals. Affected individuals may also have malformations of the nipples and abdominal wall.
Younger individuals might experience language difficulties, and in some instances mental retardation is known.
Acheiropodia (ACHP), also known as Horn-Kolb Syndrome, Acheiropody and Aleijadinhos (Brazilian type), is an autosomal recessive disorder that results in hemimelia, a lack of formation of the distal extremities.
This is a congenital defect which consists of bilateral amputations of the distal upper and lower extremities, as well as aplasia of the hands and feet. It was first discovered and is prevalent almost exclusively in Brazil.