Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The incidence of heart failure in octogenarians is high and its diagnosis not always easy. In many cases it is made by excess or by omission. Obtaining a history is often difficult. Signs may be masked, false or indicative of another disease process. Dyspnea, edema of the lower limbs and crepitations are relatively non-specific. Jugular distension, tender hepatomegaly and a diastolic gallop are much more valuable. Diagnosis of the underlying etiology also raises problems. While hypertension is commonplace and easy to identify, ischemic heart disease is common and often missed. Tight aortic stenosis must be identified since its treatment is surgical. Hypertrophic cardiomyopathy is often an echocardiographic discovery. Post-embolic chronic cor pulmonale, or secondary to chronic obstructive lung disease, must always be considered in the presence of right heart failure without hypertension or chest pain. Appropriate treatment is dependent upon accurate diagnosis.
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PMID:[Difficulties in the diagnosis of cardiac insufficiency in octogenarians]. 782 52

Glycogen storage disease type III (GSD III) is a very rare disorder caused by a deficiency in the activities of glycogen debranching enzymes (amylo-1-6-glucosidase and 4-alpha-glucanotransferase). GSD III is characterized by the accumulation of abnormal glycogen in the liver and skeletal muscle. The primary clinical manifestations are hepatomegaly, fasting hypoglycemia, and hyperlipidemia in infants. We report a rare case of GSD III in an adult. A 52-year-old woman presented to our clinic due to dyspnea on exertion, severe general weakness, and hepatomegaly. Hypertrophic cardiomyopathy was diagnosed based on echocardiogram findings. The microscopic findings of liver and skeletal muscle biopsies were consistent with the diagnosis of GSD. DNA analysis prompted by clinical and pathologic findings led to a definitive diagnosis of GSD IIIa. Diet therapy with cornstarch was started, and the patient was followed closely. This represents the first reported case of GSD IIIa diagnosed in an adult in Korea.
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PMID:An adult case of glycogen storage disease type IIIa. 1861 70