Expert

Expert

Familial thoracic aortic aneurysm and dissection

Familial thoracic aortic aneurysm and dissection, also known as FTAD, is a rare genetic condition that affects the central artery of the body, the aorta. This condition is heritable and can cause life-threatening dissections in affected individuals and their family…

Sertraline

Sertraline A small number of children, teenagers, and young adults (up to 24 years of age) who took antidepressants (‘mood elevators’) such as sertraline during clinical studies became suicidal (thinking about harming or killing oneself or planning or trying to…

Autosomal recessive congenital methemoglobinemia

Congenital methemoglobinemia is a hereditary condition that affects the body’s ability to deliver oxygen to tissues. It is caused by mutations in the genes that encode the enzyme responsible for converting methemoglobin back into normal hemoglobin. This condition is inherited…

LETM1 gene

The LETM1 gene, short for Leucine zipper and EF-Hand containing transmembrane 1 gene, is an important gene involved in mitochondrial function. Mutations in this gene have been linked to various diseases and conditions. The LETM1 gene is located on chromosome…

X-linked juvenile retinoschisis

X-linked juvenile retinoschisis (XLRS), also known as congenital retinoschisis, is a rare genetic condition that affects the retina, the light-sensitive tissue in the back of the eye. It primarily affects males, with a frequency of approximately 1 in 15,000 to…

Hereditary xanthinuria

Hereditary xanthinuria is a rare genetic condition characterized by high levels of xanthine in the urine. It is caused by mutations in genes involved in the conversion of xanthine to uric acid. This condition can cause a variety of symptoms,…

ATXN1 gene

The ATXN1 gene is a genetic segment that codes for the ataxin-1 protein. This gene has been found to undergo changes, known as variants or mutations, that can lead to various diseases and conditions. One of the well-known conditions associated…

Arterial Blood Gas ABG Test

An arterial blood gas (ABG) test is a diagnostic procedure that measures the levels of oxygen and carbon dioxide in your blood. It provides important information about your body’s ability to maintain the acid-base balance and oxygenation. This test is…

Mitochondrial complex I deficiency

Mitochondrial complex I deficiency is a rare genetic condition characterized by the malfunction of complex I within the mitochondria. Complex I is responsible for generating energy in the form of adenosine triphosphate (ATP) in cells. When complex I is deficient,…

Misoprostol

Misoprostol Do not take misoprostol to prevent ulcers if you are pregnant or plan to become pregnant. Misoprostol may cause miscarriages, premature labor, or birth defects. If you are a woman of childbearing age, you may take misoprostol to prevent…