Friday, March 4, 2011

Need Somewher Romatic For Meal In Belfast

rare diseases called

Diseases so called because only rarely occur in a small percentage of the whole population.
If my child had any of these diseases that cite below and some more that there will be, I want to be cured as if he had the measles, which runs the labs with these diseases do not get rich, save you gentlemen lives or just want to line their pockets.

Fanconi anemia is a serious disease that was discovered in 1927 by a Swiss pediatrician Guido Fanconi call. This disease occurs mainly in children by anemia and episodes of infection and bleeding which are often persistent and severe. The reason why these symptoms occur is the gradual disappearance of blood cells involved in these processes, Fanconi anemia patients also have a high predisposition to cancer, especially leukemia.
Achondroplasia is the most common form of dwarfism. This is a marrow-derived chromosome alteration, wherein all long bones are shortened symmetrically, with normal length of the spine, causing disharmonious growth of the body.


Ataxia - Telangiectasia is a primary immunodeficiency disease that affects a variety of organs in the body. Patients with Ataxia - Telangiectasia have an unsteady gait (ataxia), dilated blood vessels (telangiectasia), and a variable immunodeficiency involving both B cells and T-lymphocytes
The choroideremia chorioretinal dystrophy is characterized by diffuse and progressive degeneration of pigment epithelium

and choriocapillaris, with the most notable changes on angiography. Night blindness develops
in the first or second decade of life, and visual field shrinks.

cervical dystonia or spasmodic torticollis is a disease of the central nervous system (brain), which is characterized by muscle spasms in the region which can cause cervical rotation shaking or tremors, and in many cases pain in the neck region.

is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine.
The GSD is a group of metabolic diseases characterized by a disorder of glycogen metabolism. The GSD can be classified into different categories according to their pathophysiological mechanism or production as identified enzyme defects and sometimes, depending on different clinical features, pathophysiology of hepatic hypoglycemic
: includes glycogenosis types Ia, Ib, III, VI;

Muscle physiopathology: includes GSD types V, VII and the defects of glycolysis that do not cause accumulation of glycogen

In particular pathophysiology, such as glycogen storage disease type II and IV.

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