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)

In more than 1,000 radiological and endoscopic examinations of the smooth muscle hollow organs of the upper intestinal tract, crysalline glucagon (0.2 to 0.5 mg., average dose 1 u/kg. body weight given at a single intravenous injection) resulted in a significant relaxation and reduction of peristalsis. This effect was less marked in the colon and recto-sigmoid. In five patients with colonic diverticulosis it had no effect. In 150 patients it was found that the onset of hypotonia after injection of glucagon increases from proximal to distal, the duration of maximal reduction in peristalsis decreasing distally. Glucagon is indicated for reducing the tone of smooth muscle hollow organs in order to judge their elasticity and to distinguish between functional and organic causes of a stenosis or increased size of folds. The rapid onset of peristaltic inhibition makes various diagnostic and therapeutic endoscopic procedures simpler or even possible. Compared with the usual atropin-like antispasmodics, glucagon has the advantage of being free from side effects apart from transient hyperglycaemia. Diabetes mellitus requiring insulin is a (relative) contra-indication to the use of glucagon.
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PMID:[The use glucagon for endoscopic and radiological examination of the gastrointestinal tract (author's transl)]. 13 38

In a 34-year-old pregnant woman, serum HPL and urinary HCG were normal, but urinary estriol was repeatedly low. A normal boy was delivered after 38 week gestation. During the neonatal period, he had hypoglycemia, muscular hypotonia and transient hyperbilirubinemia. The ACTH-test was normal, but the THS-response to metyrapone was low. Serum ACTH did not respond to insulin and metyrapone. Growth hormone, TSH and gonadotropin responses to stimuli were normal. Treatment with hydrocortisone resulted in disappearance of the symptoms. It is concluded that fetal ACTH-deficiency is one of the specific endocrine causes of low maternal estriol.
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PMID:Low urinary estriol during pregnancy caused by isolated fetal ACTH-deficiency. 23 54

Out of 647 patients with chronic recurrent pancreatitis followed up for 10-12 years 27 patients (4.2%) developed symptomatic gastroduodenal ulcers, 29 (4.5%) multiple gastroduodenal erosions. Ulcers and erosions emerged in patients with pronounced pancreatic bicarbonate insufficiency. Sucralfate treatment produced the best effect, while almagel plus vicalin were superior to gastrozepin. Relapses of ulcerogenesis were registered in 8 cases, multiple erosions in 11 cases, left pleural exudate in 8 cases in the presence of chronic pancreatitis exacerbation. Pancreatocardiac syndrome with cardialgias, a trend to arterial hypotonia, reduced voltage of ECG waves, occasional extrasystolic arrhythmia occurred in 45 patients (7%). It is shown that metabolic disorders of biogenic amines and lowered blood levels of insulin and C-peptide may underlie pathogenesis of pancreatocardiac syndrome.
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PMID:[Course and therapy of nonpancreatic complications of chronic pancreatitis]. 143 94

Dynamic hepato-bilio-scintigraphy was performed in 43 patients with diabetes mellitus. An analysis of results showed that characteristic of patients with diabetes mellitus is a reduction of the detoxicating and bile excretory function of the liver which was most pronounced in patients with insulin-dependent type in the condition of secondary sulfanylamide resistance. Typical of diabetes mellitus disorder of the gallbladder function was its hypotonia and dyskinesia.
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PMID:[Liver function in diabetics with secondary sulfanilamide resistance (based on the data from dynamic hepatobiliary scintigraphy)]. 180 42

To investigate the effect of low-dose versus high-dose insulin treatment of Kussmaul's coma, the authors treated 2 groups of relevant patients. Group I treated with low-dose insulin in combination with other therapeutic measures achieved a progressive decrease of glycemia within 8 hours. Complications were not registered. Group II on high-dose insulin scheme exhibited a drop in blood sugar resultant in hypoglycemia in 4, hypotonia in 2, brain edema in 1 patient. The absence of complications, availability and simplicity support the advantages of the low-dose regime which is now widely introduced into clinical practice.
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PMID:[Experience with the treatment of diabetic coma]. 215 74

A 16-year-old boy with Prader-Labhart-Willi syndrome (PLWS) had hypotonia, feeding difficulties, failure to thrive, strabismus and bilateral inguinal hernias with cryptorchidism during infancy followed by hyperphagia, marked early-onset obesity with insulin-dependent diabetes mellitus and necrobiosis lipoidica diabeticorum, short stature, hypogonadotropic hypogonadism and some of the facial characteristics of the individuals with the PLWS. IQ is estimated around 90. Cytogenetic studies showed mosaicism: 45,X, t(Y;15) with partial deletion 15 (15pter----15q12); 46,X, t(Y;15), dic (15)(15pter----15q12::15q12----15pter) and 47, X, t(Y;15), dic(15), dic(15). The dic(15) was bisatellited, NOR-positive on both arms and represented inv dup(15). Thus, the 2 lines with the dic(15) showed partial trisomy 15 (15pter----15q12) and partial pentasomy 15 (15pter----15q12), respectively. The cell line ratios were different in lymphocyte and fibroblast cultures. The unique cytogenetic findings in this patient, the reports of a variety of chromosome 15 aberrations in PLWS, as well as aberrations of other chromosomes, suggest that the condition is a contiguous gene syndrome rather than an aneuploidy syndrome.
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PMID:Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome? 368 18

An environmental factor acting on the fetus is thought to cause a neonatal syndrome characterized by marked muscular hypotonia, lack of respiratory drive and feeding difficulties, in some infants born to mothers with myotonic dystrophy. Mortality is high, especially amongst those babies born prematurely, but muscle strength and tone improve rapidly in survivors. Nevertheless, most survivors have physical deformities and mental retardation and are thought to develop myotonic dystrophy later. We propose that alterations in maternal insulin secretion (usual in myotonic dystrophy subjects) alter fetal blood glucose and amino acid levels and retard growth and maturation of fetal skeletal muscle. This leads to severe muscular hypotonia in affected infants. Also, we suggest that infants who die during the perinatal period may not have inherited the defective autosomal dominant gene that causes myotonic dystrophy.
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PMID:Hyperinsulinemia in myotonic dystrophy: identity of the maternal factor causing the neonatal myotonic dystrophy syndrome. 388 62

Forty patients with the Prader-Willi syndrome have been examined. The typical features begin in gestational life with poor fetal vigor and difficulties with birth and post-partum feeding. The classical features of hypotonia, small hands and feet, cryptorchidism can be identified at this time. The delayed milestones, mental retardation and obesity become more prominent later. The average height of the patients in this series who were admitted to the Clinical Study Center was 149 cm and their weight was 114 kg. The weight and height curves show that Prader-Willi individuals are consistently shorter and heavier than normal children. Tests of endocrine function showed normal glucose tolerance. Insulin secretion was increased in relation to obesity. The rise in growth hormone (hGH) after injecting insulin to induce hypoglycemia and after the infusion of arginine was comparable to other obese individuals but was low in comparison to normal weight subjects. There was no rise in growth hormone with L-dopa administration, but there was a rise in hGH with the administration of 2-deoxy-D-glucose. The hypoglycemia produced by insulin was greater in the Prader-Willi patient than in obese controls. The rise in TRH (thyrotropin-releasing hormone) following the injection of TSH (thyrotropin stimulating hormone) was greater in the Prader-Willi patients than in the obese controls. Hypogonadism was routine in this series, and the response to LRH (luteinizing releasing hormone) was absent in all tested subjects. Treatment with clomiphene for 30 to 90 days significantly increased the response to LRH in three adult individuals who had not been treated with gonadal steroids previously and who were hypogonadal. Rectal temperature declined in three of the five Prader-Willi patients during exposure to an ambient temperature of 4 degrees C, but none of the three obese controls showed a decline. Food intake averaged 5167 kcal/d when six patients were given trays containing more food than they could eat. Food intake was not reduced when tryptophan was added to the diet. Salivary secretion was reduced in the Prader-Willi patients. A number of pulmonary function tests were significantly reduced in the study patients compared to obese or normal weight controls. The anatomic findings in four autopsied patients with the Prader-Willi syndrome showed no significant differences from those of obese subjects without this syndrome. The chromosomal pattern showed a deletion or translocation at chromosome 15 in 3 of 12 patients in whom this test was performed. These findings in 40 patients with the Prader-Willi syndrome have been compared with the information contained in 159 reports published in the medical literature.
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PMID:The Prader-Willi syndrome: a study of 40 patients and a review of the literature. 633 43

A boy, now 22 months old, is described who presented at the age of 6 weeks with hypoglycaemic coma. The excretion pattern of organic acids in the urine was consistent with glutaric aciduria type II (GA II). A high energy diet low in fat and protein was given. Treatment with riboflavine resulted in an improvement of the metabolite profile, and the patient gained weight. However, a tendency to hypoglycaemia and severe hypotonia persisted. Due to muscle weakness, aggravated by infections, artificial ventilation was necessary during three periods. Serum carnitine level was low. Treatment with carnitine, started during the third period of artificial ventilation, led to some improvement of muscle strength, but he still could not breathe without support. Treatment with insulin, combined with further enrichment of the diet with glucose, resulted in an increase in muscular strength and in weight gain. Thirteen families with GA II have been described upto now. This is the first patient with a severe form of the disorder wo has survived the 1st year of life. Treatment and metabolic studies are presented.
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PMID:Glutaric aciduria type II: treatment with riboflavine, carnitine and insulin. 639 38

Two patients with trisomy 11p15 and features of Beckwith-Wiedemann syndrome are reported. The first is a female infant with gigantism, macroglossia, abdominal hypotonia with umbilical hernia, moderate mental retardation, malformative uropathy, and atrial septal defect. Trisomy 11p15 was due to de novo duplication. The second patient was a stillborn (32-33 weeks pregnancy) with an abnormal tongue, posterior diaphragmatic eventration, inner organ congestion mainly of the adrenals. Trisomy 11p15 was due to a t(4;11)(q33;p14)pat. The association of trisomy 11p15 and Beckwith-Wiedemann syndrome is discussed with regard to cytogenetic data and the gene content of 11p, notably the genes coding for insulin and predisposition to Wilms tumour.
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PMID:Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. 674 43


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