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Oct
25
Detailed Information on Marinesco-Sjogren syndrome
October 25, 2008 | Comments Off
Marinesco-Sjogren syndrome can be related with mutations of the SIL1 gene, and a mutation can be found in about 50% of cases.
Marinesco-Sjögren syndrome is a unusual autosomal recessive disorder characterized by cerebellar atrophy, ataxia, cataracts, short stature and varying degrees of mental retardation. The illness is usually evident at birth because of hypotonia (floppiness). The cataracts appear during childhood. Motor milestones are delayed with ataxia apparent by the time the child can sit. Most patients are eventually able to ambulate with a walker. Mental retardation is usually mild to moderate in severity.
Jun
30
Complete Information on Cutis laxa
June 30, 2008 | Leave a Comment
In addition, the joints are lax (hypermobility) because of weak ligaments and tendons.
Cutis laxa too called elastolysis. It is a group of uncommon connective tissue disorders in which the rind becomes inelastic and hangs broadly in folds. Cutis laxa can be balmy, affecting simply an individual’s show, or serious, affecting the domestic organs. It is characterized by rind that is lax (weak), hanging, wrinkled, and lacking in elasticity (hyperelasticity. The stricken areas of rind may be thickened and blue. The disorder involves a kind of symptoms and signs that ensue from defects in connective tissue.
Jun
21
Complete Information on Chagas disease
June 21, 2008 | Leave a Comment
Chagas disease has two phases first is intense and chronic. The intense stage may get no symptoms or have really balmy symptoms.
Chagas disease is a transmission caused by the parasite Trypanosoma cruzi. The transmission is normally transmitted via the stool of blood-sucking worm vectors (reduviid bugs. The transmission is largely establish in tiny mammals (sylvatic rhythm), and human disease results from the colonization of the human habitat by some vector species (internal rhythm. It is scatter by reduvid bugs and is one of the leading health problems in South America, where 20 million folk are infected. Due to immigration, roughly 500,000 folk in the United States are believed to be infected.
Jun
7
Complete Information on Brugada syndrome
June 7, 2008 | Leave a Comment
Brugada syndrome is a genetic disorder in which an abnormality in the heart’s electrical system causes life-threatening heart rhythm disturbances (arrhythmiasBrugada syndrome is characterized by ST-segment abnormalities in leads V1-V3 on ECG and a high risk of ventricular arrhythmias and sudden death.
Brugada syndrome presents primarily during adulthood. Brugada syndrome is a condition that causes a disruption of the heart’s normal rhythm. This disorder can lead to uncoordinated electrical activity in the heart’s lower chambers (ventricles), an abnormality called ventricular arrhythmia.