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[10] [12] All patients should remain on blood thinner medication for at least 6 months and up to a year unless the patient had a stroke in which they would always be on blood thinners. [10] [12] Patients with coronary artery disease or pulmonary hypertension will take additional medicines described by their physician. For patients who had heart ...
Zellweger spectrum disorders are a group of autosomal recessive genetic disorders. They are caused due to pathogenic mutations in at least 13 different PEX genes that encode peroxins. [5] It affects the peroxisomes, which are organelles in the body that are meant to breakdown items like acids and toxic compounds. Both parents will have to have ...
Roberts reported a disease that was characterized by phocomelia, cleft lip, cleft palate, and a protrusion of the intermaxillary region in three siblings of an Italian couple who were first cousins, which made Roberts syndrome acquisition more likely for their children due to the disease's autosomal recessive nature.
The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). [5] [6] Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders. [7] Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. [4]
Heyde's syndrome; A stenotic aortic valve: Specialty: Cardiology, general surgery, Hematology: Symptoms: Aortic valve stenosis symptoms: Chest pain (angina) or tightness Shortness of breath, especially during exertion or when lying down Fatigue or weakness Irregular heartbeat or heart palpitations Dizziness or fainting episodes Gastrointestinal bleeding symptoms: Occult (hidden) or overt ...
The term childhood disease refers to disease that is contracted or becomes symptomatic before the age of 18 or 21 years old. Many of these diseases can also be contracted by adults. Some childhood diseases include:
Antiphospholipid syndrome is known for causing arterial or venous blood clots, in any organ system, and pregnancy-related complications.While blood clots and pregnancy complications are the most common and diagnostic symptoms associated with APS, other organs and body parts may be affected like platelet levels, heart, kidneys, brain, and skin.
Absence of the XK protein is an X-linked disease. [3] Mutational variants result in McLeod syndrome either with or without neuroacanthocytosis: the gene on the X chromosome for McLeod syndrome is physically close to the gene for chronic granulomatous disease. As a result, an individual with one relatively small deletion may have both diseases. [4]