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rare disease | A Wisdom Archive on rare disease | | rare disease A selection of articles related to rare disease | |
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| ARTICLES RELATED TO rare disease | |
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| | |  rare disease: Encyclopedia II - Elastase - Forms and classificationThere exist two genes for elastase: pancreatic (ELA-1) and neutrophil (ELA-2) elastase. From recent research, it appears that of the two, ELA-1 is not transcribed into a protein [1].
The neutrophil form of elastase (EC 3.4.21.37) is 218 aminoacids long, with two asparagine-linked carbohydrate chains (see glycosylation). It is present in azurophil granules in the neutrophil cytoplasm. There appear to be ...
See also:Elastase, Elastase - Forms and classification, Elastase - Function, Elastase - Genetics, Elastase - Role in disease, Elastase - A1AD, Elastase - Cyclic hematopoeiesis, Elastase - Other diseases, Elastase - Sources Read more here: » Elastase: Encyclopedia II - Elastase - Forms and classification |
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| | | | rare disease: Encyclopedia II - Familial hypercholesterolemia - Pathophysiology LDL cholesterol normally circulates in the body for 2.5 days, after which it is cleared by the liver. In FH, the half-life of an LDL particle is almost doubled to 4.5 days. This leads to markedly elevated LDL levels, with the other forms of cholesterol remaining normal, most notably HDL.
The excess circulating LDL is taken up by cells all over the body but most notably macrophages and especially the ones in a primary streak (the earliest stage of ather ...
See also:Familial hypercholesterolemia, Familial hypercholesterolemia - Signs and symptoms, Familial hypercholesterolemia - Types, Familial hypercholesterolemia - Causes, Familial hypercholesterolemia - Genetics, Familial hypercholesterolemia - Pathophysiology, Familial hypercholesterolemia - Diagnosis, Familial hypercholesterolemia - Treatment, Familial hypercholesterolemia - Heterozygous FH, Familial hypercholesterolemia - Homozygous FH, Familial hypercholesterolemia - History Read more here: » Familial hypercholesterolemia: Encyclopedia II - Familial hypercholesterolemia - Pathophysiology |
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| | | | rare disease: Encyclopedia II - Food allergy - Signs and symptoms Patients present with skin symptoms, throat tightness, shortness of breath, lightheadedness and/or stomach symptoms. The symptoms usually develop within half an hour of ingesting the allergen.
Rarely, food allergy can lead to anaphylactic shock: hypotension (low blood pressure) and loss of consciousness. This is a medical emergency. Allergens commonly associated with this type of reaction are peanuts, nuts, milk, egg and sea ...
See also:Food allergy, Food allergy - Signs and symptoms, Food allergy - Diagnosis, Food allergy - Pathophysiology, Food allergy - Treatment, Food allergy - Statistics, Food allergy - Differing views, Food allergy - In children Read more here: » Food allergy: Encyclopedia II - Food allergy - Signs and symptoms |
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| | | | rare disease: Encyclopedia II - Sildenafil - History Sildenafil, initially known as compound UK-92,480, was initially developed to treat angina pectoris (a form of cardiovascular disease). Phase I clinical trials suggested that the drug had little effect on angina, but that it could induce marked penile erections. Pfizer therefore decided to market it for erectile dysfunction, rather than for angina. The drug was patented in 1996, approved for use in erectile dysfunction by the FDA on March 27, 1998, becoming the first pill approved to treat erectile dysfunction in the United States, and offer ...
See also:Sildenafil, Sildenafil - History, Sildenafil - Mechanism of action, Sildenafil - Dosage and price, Sildenafil - Contraindications and side effects, Sildenafil - Uses outside of erectile dysfunction, Sildenafil - Pulmonary hypertension, Sildenafil - Raynaud's phenomenon Read more here: » Sildenafil: Encyclopedia II - Sildenafil - History |
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| | | | rare disease: Encyclopedia II - Food allergy - Signs and symptoms Most patients present with diarrhea after ingesting certain foodstuffs, skin symptoms (rashes), bloating, vomiting and regurgitation. The digestive complaints usually develop within half an hour of ingesting the allergen.
Rarely, food allergy can lead to anaphylactic shock: hypotension (low blood pressure) and loss of consciousness. This is a medical emergency. Allergens commonly associated with this type of reaction are peanut and shellfish, although latex products can induce similar reactions. Initial treatment is with epinephrine (adrenalin), often c ...
See also:Food allergy, Food allergy - Signs and symptoms, Food allergy - Diagnosis, Food allergy - Pathophysiology, Food allergy - Treatment, Food allergy - Statistics, Food allergy - Differing views, Food allergy - In children Read more here: » Food allergy: Encyclopedia II - Food allergy - Signs and symptoms |
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| | | | rare disease: Encyclopedia II - Chronic granulomatous disease - Genetics Four genes have been implicated in CGD (p is the weight of the protein in kDa; the g means glycoprotein):
CYBB, coding the gp91-phox subunit (X-linked, accounts for 2/3 of the cases);
CYBA, coding p22-phox
NCF-1, coding p47-phox
NCF-2, coding p67-phox
A fifth gene, coding for p40-phox, has not been implicated
A low level of NADPH, the cofactor required for superoxide synthesis, can lead to CGD. This has been reported in women who are homozygous for the genetic defect causing glucose-6-phosphate dehydrogenase deficien ...
See also:Chronic granulomatous disease, Chronic granulomatous disease - Pathophysiology, Chronic granulomatous disease - Genetics, Chronic granulomatous disease - Epidemiology Read more here: » Chronic granulomatous disease: Encyclopedia II - Chronic granulomatous disease - Genetics |
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| | | | rare disease: Encyclopedia II - Food allergy - Diagnosis The best method for diagnosing food allergy is to be assessed by an allergist. The allergist will discuss the symptoms that occured after the food ingestion. If the allergist feels the reaction is in keeping with a real food allergy, he/she will perform allergy skin tests. These skin tests are performed by a method called skin prick testing. It is generally very safe and tolerated even by young children. The results are available within 15 minutes. Another option is to perform blood testing, called RAST testing, for ...
See also:Food allergy, Food allergy - Signs and symptoms, Food allergy - Diagnosis, Food allergy - Pathophysiology, Food allergy - Treatment, Food allergy - Statistics, Food allergy - Differing views, Food allergy - In children Read more here: » Food allergy: Encyclopedia II - Food allergy - Diagnosis |
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| | | | rare disease: Encyclopedia II - Food allergy - Pathophysiology See also allergy for a general discussion of the background of allergy
Generally, introduction of allergens through the digestive tract is thought to induce immune tolerance. In individuals who are predisposed to developing allergies (atopic syndrome), the immune system produces IgE antibodies against protein epitopes on non-pathogenic substances, including dietary components. The IgE molecules are coated onto mast cells, which in ...
See also:Food allergy, Food allergy - Signs and symptoms, Food allergy - Diagnosis, Food allergy - Pathophysiology, Food allergy - Treatment, Food allergy - Statistics, Food allergy - Differing views, Food allergy - In children Read more here: » Food allergy: Encyclopedia II - Food allergy - Pathophysiology |
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| | | | rare disease: Encyclopedia II - Food allergy - Diagnosis As meals tend to consist of different ingredients, it is not always easy to identify the allergen. Moreover, laboratory diagnosis is imprecise and expensive without a clinical indication which foods may cause the symptoms. Excluding very common allergens is therefore often attempted; in young children, this can be cow's milk, eggs, or tree nuts and peanuts.
If an allergen cannot be identified, blood tests may help identify a cause. A full blood count is usually normal, but severe causes may reveal eosinophilia. Routine organ markers a ...
See also:Food allergy, Food allergy - Signs and symptoms, Food allergy - Diagnosis, Food allergy - Pathophysiology, Food allergy - Treatment, Food allergy - Statistics, Food allergy - Differing views, Food allergy - In children Read more here: » Food allergy: Encyclopedia II - Food allergy - Diagnosis |
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