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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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Management often includes the use of beta blockers such as propranolol or if not tolerated calcium channel blockers or ACE inhibitors.
Since angiotensin II receptor antagonists (ARBs) also reduce TGF-β, these drugs have been tested in a small sample of young, severely affected people with Marfan syndrome. In some, the growth of the aorta was reduced. However, a recent study published in NEJM demonstrated similar cardiac outcomes between the ARB, losartan, and the more established beta blocker therapy, atenolol.
The American Heart Association made the following recommendations for Marfan's patients with no or mild aortic dilation:
- Probably permissible activities: bowling, golf, skating (but not ice hockey), snorkeling, brisk walking, treadmill, stationary biking, modest hiking, and doubles tennis.
- Intermediate risk: basketball (both full- and half-court), racquetball, squash, running (sprinting and jogging), skiing (downhill and cross-country), soccer, singles tennis, touch (flag) football, baseball, softball, biking, lap swimming, motorcycling, and horseback riding.
- High risk: bodybuilding, weightlifting (non-free and free weights), ice hockey, rock climbing, windsurfing, surfing, and scuba diving.
Beals syndrome (congenital contractural arachnodactyly, Beals–Hecht syndrome) is a rare congenital connective tissue disorder. Beals syndrome has only recently been described as a syndrome distinct from Marfan's syndrome. Ricky Berwick is an internet star with this disease.
It was characterized in 1972.
It is associated with FBN2.
It is caused by a mutation in FBN2 gene on chromosome 5q23. Contractures of varying degrees at birth, mainly involving the large joints, are present in all affected children. Elbows, knees and fingers are most commonly involved. The contractures may be mild and tend to reduce in severity, but residual camptodactyly always remains present. The arm span exceeds body height but the discrepancy may be underestimated due to contractures of elbows and fingers. The same holds for the lower body portion with knee contractures. The most serious complication in CCA is scoliosis and sometimes kyphoscoliosis mandating surgery.
Animal studies have shown that administration of the drugs vinblastine, streptonigrin, triparano, sulfonamide, tetracycline, antihistamines, and antitumor agents to pregnant mothers have resulted in offspring born with iniencephaly. The drug clomiphene, a drug commonly used for ovulation stimulation in fertility treatments, has also been seen to be associated with iniencephaly.
Pregnant mothers are advised to take folic acid supplements to reduce risk of iniencephaly by up to 70%. Pregnant mothers are also advised not to take antiepileptic drugs, diuretics, antihistamines, and sulfa drugs, all of which have been associated with increased risk for neural tube defects.
Sufferers usually have long, thin fingers and toes with contractures preventing straightening and limiting movement. Contractures also affect hips, elbows, knees and ankles. They also have unusual external ears that appear crumpled. Contractures may be present from birth and may appear as a club foot. Long bone fractures may also form a part of the syndrome, though the evidence for this is limited to the case report level.
Evidence for the treatment of thoracic outlet syndrome as of 2014 is poor.
The overall complication rate following surgery is around 20%; cerebrospinal fluid leak is the most common.
TOS can be attributed to one or more of the following factors:
- Congenital abnormalities are frequently found in persons with TOS. These include cervical rib, prolonged transverse process, and muscular abnormalities (e.g., in the scalenus anterior muscle, a sickle-shaped scalenus medius) or fibrous connective tissue anomalies.
- Trauma (e.g., whiplash injuries) or repetitive strain is frequently implicated.
- Rarer acquired causes include tumors, hyperostosis, and osteomyelitis
There are three modalities of surgical treatment (excision) depending on where the anatomical location of the incision to access the tumor is made: retrosigmoid (a variant of what was formerly called suboccipital), translabyrinthine, and middle fossa.
The goals of surgery are to control the tumor, and preserve hearing as well as facial nerves. Especially in the case of larger tumors, there may be a tradeoff between tumor removal and preservation of nerve functionality.
There are different defined degrees of surgical excision, termed 'subtotal resection', 'radical subtotal resection', 'near-total resection', and 'total resection' in order or increasing proportion of tumor removed. Lesser amount of tumor removal may increase likelihood of preservation of nerve function (hence better post-operative hearing), but also likelihood of tumor regrowth, necessitating additional treatment.
Most XY children are so undervirilized that they are raised as girls. The testes are uniformly nonfunctional and undescended; they are removed when the diagnosis is made due to the risk of cancer development in these tissues.
A zebibah (Arabic زبيبة "zabība", "raisin"), also known as a zabiba or zebiba, or prayer bump, is a mark on the forehead of some Muslims, due to the friction generated by repeated contact of the forehead with the prayer mat during daily prayers.
Islam requires its adherents to pray five times a day (known as salat), which involves kneeling on a prayer mat and touching the ground with one's forehead. When done firmly for extended periods of time, a prayer bump may develop. Some Muslims may consider the presence of a prayer bump to be a sign of religious dedication and piety. Some Muslims also believe that on the day of judgment, this bump will particularly fluoresce an immense white light.
In extreme cases, the callus can be thick enough to create a real bump that protrudes from the forehead. They may also develop due to frequent prayer on hard surfaces such as stone floors.
A zebibah can be a type of acanthosis nigricans, which is a sign of insulin resistance usually from type 2 diabetes. In Egypt, where zebibahs are common, the rate of diabetes was 10.2% in 2000. However, it was much larger for certain groups. For instance, the rate of diabetes was 21.9% for women aged between 45–64 years old. In addition, it was estimated that up to 56% of men and 64% of women are obese. Many of these obese people can be pre-diabetic.
Glucocorticoid deficiency 1 (FGD or GCCD) is an adrenocortical failure characterized by low levels of plasma cortisol produced by the adrenal gland despite high levels of plasma ACTH. This is an inherited disorder with several different causes which define the type.
FGD type 1 (FGD1 or GCCD1) is caused by mutations in the ACTH receptor (melanocortin 2 receptor; MC2R). FGD type 2 is caused by mutations in the MC2R accessory protein (MRAP). These two types account for 45% of all cases of FGD.
Some cases of FGD type 3 are caused by mutations in the steroidogenic acute regulatory protein (StAR), with similarity to the nonclassic form of lipoid congenital adrenal hyperplasia. In this case, a general impairment in not just adrenal steroid production, but gonadal steroid production can affect sexual development and fertility.
The causes of other cases of FGD type 3 not due to StAR are currently unknown.
In 1572, Geronimo Mercuriali of Forlì, Italy, completed "De morbis cutaneis" (translated "On the diseases of the skin"). It is considered the first scientific work dedicated to dermatology.
In some cases, surgery is the only way to eliminate or reduce pain. There are several types of surgery for treatment of hallux rigidus. The type of surgery is based on the stage of hallux rigidus.
XX females with lipoid CAH may need estrogen replacement at or after puberty. Active intervention has been used to preserve the possibility of fertility and conception in lipoid CAH females. In a case report in 2009, a woman with late onset lipoid CAH due to StAR deficiency underwent hormone replacement therapy in combination with an assisted fertility technique, intracytoplasmic sperm injection. This led to ovulation and with implantation of the in vitro fertilized egg, a successful birth.
Early treatment for mild cases of hallux rigidus may include prescription foot orthotics, shoe modifications (to take the pressure off the toe and/or facilitate walking), medications (anti-inflammatory drugs), injection therapy (corticosteroids to reduce inflammation and pain) and/or physical therapy.
Diseases of the skin include skin infections and skin neoplasms (including skin cancer).
Measures to prevent opportunistic infections are effective in many people with HIV/AIDS. In addition to improving current disease, treatment with antiretrovirals reduces the risk of developing additional opportunistic infections. Adults and adolescents who are living with HIV (even on anti-retroviral therapy) with no evidence of active tuberculosis in settings with high tuberculosis burden should receive isoniazid preventive therapy (IPT), the tuberculin skin test can be used to help decide if IPT is needed. Vaccination against hepatitis A and B is advised for all people at risk of HIV before they become infected; however it may also be given after infection. Trimethoprim/sulfamethoxazole prophylaxis between four and six weeks of age and ceasing breastfeeding in infants born to HIV positive mothers is recommended in resource limited settings. It is also recommended to prevent PCP when a person's CD4 count is below 200 cells/uL and in those who have or have previously had PCP. People with substantial immunosuppression are also advised to receive prophylactic therapy for toxoplasmosis and MAC. Appropriate preventive measures have reduced the rate of these infections by 50% between 1992 and 1997. Influenza vaccination and pneumococcal polysaccharide vaccine are often recommended in people with HIV/AIDS with some evidence of benefit.
The World Health Organization (WHO) has issued recommendations regarding nutrient requirements in HIV/AIDS. A generally healthy diet is promoted. Dietary intake of micronutrients at RDA levels by HIV-infected adults is recommended by the WHO; higher intake of vitamin A, zinc, and iron can produce adverse effects in HIV positive adults, and is not recommended unless there is documented deficiency. Dietary supplementation for people who are infected with HIV and who have inadequate nutrition or dietary deficiencies may strengthen their immune systems or help them recover from infections, however evidence indicating an overall benefit in morbidity or reduction in mortality is not consistent.
Evidence for supplementation with selenium is mixed with some tentative evidence of benefit. For pregnant and lactating women with HIV, multivitamin supplement improves outcomes for both mothers and children. If the pregnant or lactating mother has been advised to take anti-retroviral medication to prevent mother-to-child HIV transmission, multivitamin supplements should not replace these treatments. There is some evidence that vitamin A supplementation in children with an HIV infection reduces mortality and improves growth.
Baritosis is a benign type of pneumoconiosis, which is caused by long-term exposure to barium dust.
Barium has a high radio-opacity and the disease may develop after few months of exposure. Extremely dense, discrete small opacities of 2–4 mm diameter, sometimes of a star-like configuration, are seen on the radiograph. Their distribution is uniform. When they are very numerous, superimposition may give the impression of confluency, but this does not seem to occur in reality. The hilar lymph nodes can be very opaque but not enlarged. After cessation of exposure, there is a gradual clearing of the opacities.
The role of chemotherapy in DIPG remains unclear. Studies have shown little improvement in survival, although efforts (see below) through the Children's Oncology Group (COG), Paediatric Brain Tumour Consortium (PBTC), and others are underway to explore further the use of chemotherapy and other drugs. Drugs that increase the effect of radiotherapy (radiosensitizers) have shown no added benefit, but promising new agents are under investigation. Immunotherapy with beta-interferon and other drugs has also had little effect in trials. Intensive or high-dose chemotherapy with autologous bone marrow transplantation or peripheral blood stem cell rescue has not demonstrated any effectiveness in brain stem gliomas. Future clinical trials may involve medicines designed to interfere with cellular pathways (signal transfer inhibitors), or other approaches that alter the tumor or its environment.
A major aim of treatment is to prevent, limit, or reverse target organ damage by lowering the person's high blood pressure to reduce the risk of cardiovascular disease and death. Treatment with antihypertensive medications may be required to control the high blood pressure.
The World Health Organization estimates that 80% of visual loss is either preventable or curable with treatment. This includes cataracts, onchocerciasis, trachoma, glaucoma, diabetic retinopathy, uncorrected refractive errors, and some cases of childhood blindness. The Center for Disease Control and Prevention estimates that half of blindness in the United States is preventable.
As is the case with most brain tumors, a major difficulty in treating DIPG is overcoming the blood–brain barrier.
In the brain—unlike in other areas of the body, where substances can pass freely from the blood into the tissue—there is some space between the cells lining the blood vessels. Thus, the movement of substances into the brain is significantly limited. This barrier is formed by the lining cells of the vessels as well as by projections from nearby astrocytes. These two types of cells are knitted together by proteins to form what are called "tight junctions". The entire structure is called the blood–brain barrier (BBB). It prevents chemicals, toxins, bacteria, and other substances from getting into the brain, and thus serves a continuous protective function. However, with diseases such as brain tumors, the BBB can also prevent diagnostic and therapeutic agents from reaching their target.
Researchers and clinicians have tried several methods to overcome the blood–brain barrier:
- Intrathecal/intraventricular administration: Chemotherapy is injected directly into the cerebrospinal fluid, either through a lumbar puncture or a surgically implanted catheter.
- Intracerebral implants: A neurosurgeon creates a cavity within a tumor to allow the placement of dime-sized chemotherapy wafers, such as Gliadel wafers. Several of these wafers can be placed at the time of surgery and will release a chemotherapy agent (carmustine) slowly over time. This provides a much higher concentration of chemotherapy in the brain than can be obtained with intravenous administration, and it causes fewer systemic side effects. However, it is an option only for patients with surgically resectable tumours, so it cannot be used to treat DIPG.
- Osmotic blood–brain barrier disruption (BBBD): The cells of the blood–brain barrier are shrunk by a concentrated sugar solution (mannitol). This opens the barrier and allows 10 to 100 times more chemotherapy to enter the brain. A catheter is placed into a large artery (usually the one in the groin called the femoral artery) and threaded up to the carotid or vertebral artery. The hypertonic mannitol is injected, followed by a chemotherapeutic agent. Patients spend a few days in the hospital for each administration. This has been attempted with DIPG tumours.
- Convection-enhanced delivery: Chemotherapy is delivered to the tumour by a surgically implanted catheter under a pressure gradient to achieve more distribution than with diffusion alone. Limited experiments have been conducted with brain tumors, including one with a DIPG.
- Drug carriers: Carriers such as Trojan horses, liposomes, and nanoparticles might theoretically allow a therapeutic drug to enter the brain. Such tactics are mostly in the investigatory stages and are not yet clinically relevant to brain tumour treatment.