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Townes–Brocks syndrome [1] (TBS) is a rare genetic disease that has been described in approximately 200 cases in the published literature. It affects both males and females equally. [ 2 ] The condition was first identified in 1972. [ 2 ]
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.
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 ]
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]
Diagnosing cachexia is challenging due to the lack of clear criteria, lack of routine assessment, heterogeneity of disease, and the presence of other confounding factors. [7] Similarly to malnutrition , which is believed to increase morbidity and mortality and decrease quality of life, cachexia is associated with increased morbidity and mortality.
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.
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 ...
While the disease manifests early in life in most cases, diagnosis of the disease is often quite delayed. [ 2 ] [ 4 ] [ 5 ] The symptoms that affected patients present vary, but the most common presenting symptoms are gastrointestinal issues such as nausea, vomiting, abdominal pain, and diarrhea, and neurologic or ocular symptoms such as ...