Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A newborn, whose mother had been treated with lithium carbonate for a manic-depressive illness suffered from hypotonia, poor feeding, weak Moro reflex, hyperexcitability, thyroid enlargement and cyanosis. Symptoms resolved within a few weeks. No malformations could be detected. The psychomotor development of the child was normal up to the age of 18 months.
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PMID:[Lithium-intoxication in a newborn (author's transl)]. 7 34

Propionic acidemia is a rare hereditary disease which is an autosomal recessive disorder. Defect of propionyl CoA carboxylase results in abnormal accumulation of propionate and its metabolites which interfere the pathway of glycine cleavage and the urea cycle. This organic acidemia is characterized by a wide spectrum of clinical and biochemical findings, including recurrent vomiting, difficult feeding, lethargy, hypotonia, metabolic ketoacidosis, hyperglycinemia and hyperammonemia during the acute episodes. We present a male newborn infant who sustained this disorder and was managed successfully with blood exchange transfusion, peritoneal dialysis, supplemented with sodium benzoate and sodium bicarbonate therapy. Urine gas chromatography disclosed significant elevation of propionate and its metabolites which subsided 2 days after peritoneal dialysis. Special designed formula was then given with restriction of protein intake and supplement with sodium benzoate and sodium carbonate. Prenatal genetic counseling is necessary in further pregnancy. Diagnosis can be obtained when propionyl CoA carboxylase activity is low in cultured amniotic fluid cells or chorion villi sample or when there is abnormally high methylcitrate level in amniotic fluid.
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PMID:[Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy]. 217 70

Long QT syndrome is a disease characterized by periodic or constant prolongation of QT interval and attacks of ventricular polymorphic tachycardia known as torsade de pointes. It may appear as a result of various medicines application, both anti-arrhythmic and non-cardiovascular. Currently, a list of medicines which may cause proarrhythmic action in consequence of QT prolongation is long and constantly updated. It contains tricyclic antidepressants, which are the most toxic antidepressants currently used and are often the cause of poisoning and hospitalization on toxicology wards. The paper presents the case of a 20-year-old man, treated in the clinical toxicology ward, after severe poisoning with tricyclic antidepressants. The patient, treated many times in our toxicology centre, had very high concentration of tricyclic antidepressants in the serum (2768 ng/ml). The concentration above 1000 ng/ml indicates serious life-threatening poisoning. Very severe symptoms of cardiotoxicity were observed: in ECG - wide QRS (160 ms) with heart rate 120-150 per minute, ventricular tachycardia, periodically polymorphic, prolongation of QT interval, hypotonia (80/60 mm Hg) and also recurrent attacks of seizures. Also metabolic/respiratory acidosis was stated (pH - 7.089; pCO2 - 56.9 mm Hg, HCO3 - 16.8 mmol/l). Gastric lavage, activated charcoal were administered, symptomatic and supportive treatment according to the intensive therapy rule was applied, including sodium bicarbonate, magnesium sulfate and vasopressors intravenous infusion. High concentration of the drug, unknown after ingestion and significantly developed symptoms of cardiotoxicity caused, that the treatment was ineffective. The case described shows that treatment of severe poisoning with tricyclic antidepressants and induced acquired long QT syndrome is still a challenge.
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PMID:[Severe tricyclic antidepressants poisoning--a case study]. 2324 47