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Diabetic ketoacidosis (DKA) is a potentially life-threatening complication of diabetes mellitus. [1] Signs and symptoms may include vomiting , abdominal pain , deep gasping breathing , increased urination , weakness, confusion and occasionally loss of consciousness . [ 1 ]
Ketoacidosis is a metabolic state caused by uncontrolled production of ketone bodies that cause a metabolic acidosis. While ketosis refers to any elevation of blood ketones , ketoacidosis is a specific pathologic condition that results in changes in blood pH and requires medical attention.
In 1940, Edward S. Dillon, W. Wallace, and Leon S. Smelo, first described alcoholic ketoacidosis as a distinct syndrome. They stated that "because of the many and complex factors, both physiologic and pathologic, which influence the acid-base balance of the body, a multitude of processes may bring about the state of acidosis as an end result". [7]
The signs and symptoms of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant chronic kidney disease or kidney failure. Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags ), or further malformation or absence of the ...
Maple syrup urine disease can be classified by its pattern of signs and symptoms or by its genetic cause. The most common and severe form of this disease is the classic type, which appears soon after birth, and as long as it remains untreated, gives rise to progressive and unremitting symptoms.
Musical ear syndrome (MES) is a condition seen in people who have hearing loss and subsequently develop auditory hallucinations. "MES" has also been associated with musical hallucinations , which is a complex form of auditory hallucinations where an individual may experience music or sounds that are heard without an external source. [ 1 ]
Most individuals with G6PD deficiency are asymptomatic.When it induces hemolysis, it is usually is short-lived. [5]Most people who develop symptoms are male, due to the X-linked pattern of inheritance, but female carriers can be affected due to unfavorable lyonization or skewed X-inactivation, where random inactivation of an X-chromosome in certain cells creates a population of G6PD-deficient ...
EAST syndrome is also called SeSAME syndrome, [1] as a syndrome of seizures, sensorineural deafness, ataxia, intellectual disability (mental retardation), and electrolyte imbalances. It is an autosomal recessive genetic disorder caused by mutations in the KCNJ10 gene, as discovered by Bockenhauer and co-workers . [ 4 ]