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megacolon/seizures

L'enllaç es desa al porta-retalls
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[A 25-year-old patient with colonic pseudo-obstruction, hyponatremia, hypertension, and diffuse pain].

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METHODS A 25-year-old hypertensive patient presented to the Emergency Department with constipation and diffuse pain which had been increasing for 10 days. She had consulted several doctors before, but neither various analgesics nor metoclopramide had been beneficial. Blood analysis showed

[Frequency and characteristics of genetic morbidity in a pediatric hospital].

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Frequency and characteristics of patients discharged with recognized genetic diseases by current technical literature available in 1988 (GD) from a pediatric hospital at Santiago, Chile, are described. On the last three months of year 1988, a prospective study on 2,987 hospital admissions

[Serious plant poisonings in Switzerland 1966-1994. Case analysis from the Swiss Toxicology Information Center].

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OBJECTIVE To analyze the types, frequency and severity of plant poisonings in Switzerland over 29 years. METHODS Retrospective analysis of severe poisonings with toxic plants reported to the Swiss Toxicological Information Center (STIC). Assessment of the causality, severity of symptoms and the

Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung's disease.

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Neurocristopathies are a group of diverse disorders resulting from defective growth, differentiation, and migration of the neural crest cells. Hirschsprung's disease, namely aganglionic megacolon, is the consequence of defective migration of neural crest cells on to the colonic submucosa and is

Disrupted SOX10 function causes spongiform neurodegeneration in gray tremor mice.

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Mice homozygous for the gray tremor (gt) mutation have a pleiotropic phenotype that includes pigmentation defects, megacolon, whole body tremors, sporadic seizures, hypo- and dys-myelination of the central nervous system (CNS) and peripheral nervous system, vacuolation of the CNS, and early death.

Post-dysenteric hemolytic uremic syndrome in children during an epidemic of Shigella dysentery in Kwazulu/Natal.

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We report 81 of 107 cases of hemolytic uremic syndrome (HUS), admitted between July 1994 and February 1996, following an outbreak of Shigella dysenteriae type 1 dysentery in Kwazulu/Natal. All patients, excluding 1, were black with a mean age of 38 months (range 1-121); 50 (61.7%) were males. The

Potentially lethal complications of shigellosis.

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Complications that can lead to death during shigellosis include intestinal as well as systemic manifestations. The former include intestinal perforation, toxic megacolon, and dehydration, and the latter include sepsis, hyponatremia, hypoglycemia, seizures and encephalopathy, hemolyticuremic

Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.

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We report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical
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