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)

The metabolism of ground substance in connective tissue of an 18-year-old boy with oculo-cerebro-renal syndrome was studied. He had characteristic clinical and laboratory findings described by Lowe et al. such as growth retardation, mental deficiency, glaucoma, cataracta, decreased muscle tone, metabolic acidosis, aminoaciduria and osteomalacia. The urinary excretion of acid glycosaminoglycans and of total hydroxyproline were 27 mg/day (as glucuronic acid) and 280 mg/day respectively on admission. Both values decreased to the upper limits of normal level transiently during treatment with alkali and vitamin D2. At that time, an improvement in bone abnormalities, a decrease of serum alkaline phosphatase, and an elevation of serum inorganic phosphate were observed. The therapy prevented him from progressive osteomalacia and cured him of it, but mucopolysacchariduria and hydroxyprolinuria did not disappear. Analytical electrophoresis on cellulose acetate sheets showed that urinary acid glycosaminoglycans were composed of undersulfated chondroitin 4-/6-sulfate and heparan sulfate with a ratio of 6:4, on admission. After oral administration of alkali, the excretion of heparan sulfate decreased and undersulfated chondroitin 4-/6-sulfate was determined as a main component of urinary acid glycosaminoglycans. The clinical and laboratory data in this case suggested that the increased excretion of acid glycosaminoglycans and total hydroxyproline was caused by abnormal metabolism in connective tissues, especially by the bone abnormalities, in this syndrome.
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PMID:Urinary excretion of acid glycosaminoglycans and hydroxyproline in a patient with oculo-cerebro-renal syndrome. 73 46

Six patients with terminal renal failure were subjected to a comparative assessment of the effects of acetate and bicarbonate dialyses on acid-base and gas composition of the blood as well as on the tolerance to the procedures conducted. It is shown that the cross-over of the patients to bicarbonate dialysis made it possible to appreciably reduce the number of side effects. The rate of hypotonia and muscular convulsions reduced by 50%, headache by 30%, nausea and vomiting practically disappeared. The use of the bicarbonate-containing dialysing solution prevented hypoxemia while acidosis correction was more adequate.
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PMID:[Use of bicarbonate dialysis in patients with terminal renal failure]. 279 28

A 2-month-old breast-fed baby is described, who, admitted for a prolongation of the QT interval on ECG, was found to be severely hypokalemic, alkalotic and hypertensive (blood pressure 200/100 mm Hg). Marked generalized hypotonia was present, and length was less than 3% for age. The results of endocrinological evaluation showed profound suppression of the pituitary-adrenal function and of the renin-aldosterone mechanism. CT scan, cavography and pyelography were normal. A pharmacological cause for the symptoms was sought and found: the mother had been using for the care of bruised nipples a cream containing 1% 9-alpha-fluoroprednisolone-21-acetate. Blood pressure remained elevated for 6 months, but became normal after one year, and growth has resumed normally. The possible differential diagnoses are considered, and the risks presented by topical steroids are emphasized.
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PMID:Factitious hypertension with mineralocorticoid excess in an infant. 687 87

Perfusion of the abdomen is determined by cardiac function and circulation. Intestinal ischemia can be caused by Non occlusive bowel ischemia (NOD) that is important in internal as well as surgical intensive care medicine. Cardiac medication can influence perfusion of the bowel: 1) digitalis increases muscular tonus and decreases perfusion regulation b) diuretics lead to hypovolemia, hypotonia and malperfusion, c) antihypertensive medication can cause intraoperative hypotension that demands catecholamines, d) catecholamines can reduce perfusion by pathologic vasoconstriction in the splanchnicus area. Preoperative medication should respect 1) preoperatively taken ACE-inhibitors should be given postoperatively, as they have protective influence on the microcirculation of the bowel, 2) beta-blockers stabilize the myogenic tonus of the abdominal vessels, reduce an overshot of the parasympatheticus and diminish the risk of neurogenic abdominal shock, 3) catecholamines should be used with respect to ischemia of the bowel. Therapy of NOD should be focused on the primary vascular and hemodynamic causes and also take care for bacterial translocation and consecutive sepsis.
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PMID:[Influence of cardiac circulation and medication on the perfusion of the intestine]. 1596 73

X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with octreotide acetate. Pleural effusions are frequently described in patients with congenital myotonic dystrophy. To our knowledge, the association of chylothorax and X-linked myotubular myopathy has not been described to date. As chylothorax could not be attributed to any evident condition in this child, perhaps it may be added to the clinical spectrum of X-linked myotubular myopathy.
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PMID:X-linked myotubular myopathy and chylothorax. 1807 67

Twenty-nine patients with acute atherothrombotic ischemic stroke and 36 patients with acute Q-wave myocardial infarction have been studied. Each group has been stratified into 2 subgroups: patients of subgroups A received an ACE inhibitor perindopril in the complex therapy from the 1st day of disease. Patients of subgroups B were not assigned to this drug. Along with routine tests, the level of tumor necrosis factor-alpha and matrix metalloproteinase-9 (MMP-9) measured with ELISA using test-systems (BCM Diagnostics, USA) and reagents (R&D, England) have been determined. The administration of perindopril did not cause side-effects, including arterial hypotonia after the first dosage, in patients in the acute period of atherothrombotic ischemic stroke and myocardial infarction. Perindopril may decrease the activity of MMP-9 in these patients and produces an anticytokine effect. Some similar mechanisms of ischemic lesions of the heart and the brain and a commonness of biochemical "response" to the same medical intervention (the administration of an ACE inhibitor perindopril) in patients of both groups were found. The results support the pathogenetic validity of perindopril therapy in the secondary prevention of ischemic stroke and myocardial infarction.
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PMID:[An effect of perindopril on the level of tumor necrosis factor-alpha and matrix metalloproteinase-9 in peripheral blood in the acute period of atherothrombotic ischemic stroke and myocardial infarction]. 1942 65