Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report the use of a nasobiliary catheter in the management of a 55-yr-old female with autosomal dominant polycystic kidney disease who developed obstructive jaundice from a hepatic cyst. The patient presented with a 2-wk history of fatigue, jaundice, nausea, vomiting, and abdominal pain. Physical examination was remarkable for tender hepatomegaly. Computerized tomography revealed multiple hepatic cysts and dilated intrahepatic biliary radicles. Endoscopic stent placement failed to relieve the obstruction. Computerized tomography guided percutaneous aspiration of the obstructing hepatic cyst was successful with the aid of a nasobiliary cholangiogram allowing visualization of the biliary tree and identification of the obstructing hepatic cyst. However, the cyst rapidly accumulated fluid, and the obstruction recurred within 1 wk of simple aspiration. Relief of symptoms was maintained only after alcohol sclerosis of the obstructing hepatic cyst. Review of the literature shows that alcohol sclerotherapy is a safe and effective nonsurgical means of treating symptomatic hepatic cysts.
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PMID:Alcohol sclerosis for polycystic liver disease and obstructive jaundice: use of a nasobiliary catheter. 807 38

The physical, clinicopathologic, and survival rates of 77 cats with severe spontaneous hepatic lipidosis are detailed in this report. Cats were subdivided into groups designated as idiopathic lipidosis if no other disease process was recognized, or secondary lipidosis if another disease process was diagnosed. Cats were also subdivided into groups designated as survivors or nonsurvivors on the basis of successful recuperation at 4 months after initial diagnosis. Differences between disease and survival groups were evaluated for significance. Overall, more female cats and middle-aged cats were affected. Presenting complaints of vomiting, anorexia, weakness, and weight loss were common. Physical assessment of most cats showed obvious hepatomegaly, jaundice, dehydration, and a weight loss > or = 25% of usual body weight. Neurobehavioral signs indicative of hepatic encephalopathy, other than ptyalism and depression, were rare. Clinicopathologic features are characterized by hyperbilirubinemia and increased activities of serum ALT, AST, and ALP, with only small if any increase in gamma GT activity. Clinical features distinguishing cats with hepatic lipidosis from those with other serious cholestatic disorders include absence of hyperglobulinemia and low gamma GT activity relative to ALP activity. Although coagulation tests were abnormal in 45% of cats tested (n = 44), few cats showed clinical bleeding tendencies. Most cats received prophylactic vitamin K1 therapy. Forty two cats received aggressive nutritional and supportive care and of these 55% survived. Cats with idiopathic disease were significantly younger, had significantly higher ALP activity and bilirubin concentration, and had a slightly better survival rate than cats with secondary lipidosis. Low PCV, hypokalemia, and an older age were significantly related to nonsurvival. Because of the variety of diets and food supplements used in case management, the influence of nutritional factors on survival could not be evaluated.
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PMID:A retrospective study of 77 cats with severe hepatic lipidosis: 1975-1990. 811 31

This case control study includes all children aged 12-36 months admitted to the pediatric unit of Sanou Souro Hospital for clinical malnutrition in Bobo-Biolasso, Burkina Faso in 1990 and early 1991. Cases numbered 273 persons, and matched controls numbered 173. 75% of cases have a diagnosis of marasmus, 10% have a diagnosis of kwashiorkor, and 15% have a diagnosis of marasmic kwashiorkor, Mortality includes 50% (14 cases) of the kwashiorkor cases and 30% of each of the other types of malnutrition. All cases show a poor anthropometric status (-4.2 among marasmus cases, -2.75 among kwashiorkor cases, and -3.80 among marasmic kwashiorkor cases). Only 2% show clinical malnutrition. The primary diagnoses are for diarrhea (78%), vomiting (46%), hepatomegaly (25%), dyspnoea (14%). and lymphadenopathy (14%). 35% are aged 12-17 months, 38% are aged 18-23 months, 18% are aged 24-29 months, and 9% are aged 30-36 months. 53% are male. 72% are in receipt of home follow-up visits. Of the 77 not followed up, 30 died. Cases and controls are grouped by feeding patterns (solid foods without breast milk, solid foods and breast milk and without or without porridge, and no solid foods). More malnutrition cases occur among children in the group with no solid food (11 with breast milk and/or other milk or porridge and 7 with porridge only). Those eating solid food with breast milk have a reduced odds of malnutrition. The case-control analysis indicates that more malnutrition occurs among those receiving breast milk or other milk. But with controls for age and supplementation the results indicate that children not receiving breast milk are twice as likely to suffer clinical malnutrition (odds ratio of 2.37), and the occurrence varies with age. Logistic regressions with control for confounding factors indicate that children without breast milk have three times the risk of malnutrition. Prolonged breast feeding and solid food supplements are associated with a 70% reduction in the rate of clinical malnutrition. Caution is urged in accepting wholly the findings due to the potential for reverse causality.
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PMID:Prolonged breast-feeding: no association with increased risk of clinical malnutrition in young children in Burkina Faso. 831 89

In the past 5 years we have discovered 8 boys and 3 girls who suffer from fructose-1,6-bisphosphatase deficiency. Although they all showed the typical symptoms of the deficiency such as frequent vomiting, hypoglycemia, lactic acidosis, and hepatomegaly, the age at diagnosis varied from 2 months to 4 years. All the boys revealed the deficient enzyme activity in leukocytes but none of the girls. The liver biopsy was investigated in six patients to confirm the diagnosis. These results suggest the existence of tissue-specific isoenzymes for fructose-1,6-bisphosphatase possibly with a different gene origin.
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PMID:Diagnosis of fructose-1,6-bisphosphatase deficiency using leukocytes: normal leukocyte enzyme activity in three female patients. 838 9

Unexplained fractures are characteristic of both osteogenesis imperfecta (OI) and non-accidental injury (NAI) but in most cases the diagnosis is straightforward. However, in a few OI patients an initial diagnosis of NAI is made. Factors contributing to such difficulties include failure to recognise that OI can occur without a family history, without blue sclerae, without osteopenia, without an excess of Wormian bones, or with metaphyseal fractures. In addition we report on 39 patients with an unusual history in that fractures only occurred in the first year of life. Rib fractures, metaphyseal abnormalities and periosteal reactions were common. The initial diagnosis was usually OI if the fractures occurred in hospital, but NAI if they appeared to have been sustained at home. Additional findings such as anaemia, vomiting, hepatomegaly, and apnoeic attacks were often found in these patients. The disorder has some similarities to the syndrome of infantile copper deficiency. Like the latter it is particularly common in preterm infants and in twins. Therefore, we are attempting to examine the incidence of significant hypocupraemia in unselected preterm infants. We suggest that the likely cause of this "temporary brittle bone disease" is a temporary deficiency of an enzyme, perhaps a metalloenzyme, involved in the post-translational processing of collagen.
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PMID:Osteogenesis imperfecta: the distinction from child abuse and the recognition of a variant form. 817 41

We have carried out a retrospective study on 100 children in hospital in Marseilles, France with a diagnosis of Plasmodium falciparum malaria. On admission, the main clinical features were anaemia (90 cases), fever (83 cases, > 40 degrees C in 22 cases), hepatomegaly (44 cases), vomiting (29 cases), neurological signs (22 cases), thrombocytopenia (13 cases), hyperparasitaemia (6 cases), jaundice (4 cases), shock (1 case) and hypoglycaemia (1 case). Severe malaria, as defined by the World Health Organization Malaria Action Programme, was rare in our study (only 2 cases) and the prognosis was good (no death, no sequela). The search for neurological signs such as impaired consciousness, prostration or convulsions is an effective and simple way to diagnose potentially severe cases. In the presence of these signs, intravenous quinine treatment resulted in a shortened duration of fever (30 h instead of 63 h) and thereby avoided patients becoming worse. In children without neurological signs or persistent vomiting, oral therapy may be used even if there is high fever or hyperparasitaemia, but close surveillance is required. Patients treated with halofantrine or mefloquine had a shorter stay in hospital than those treated with chloroquine (mean = 4 d instead of 5.7 d). The resistance of some strains to chloroquine may explain this difference.
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PMID:Choice of therapy for imported cases of falciparum malaria in children: a retrospective study of 100 cases seen in Marseilles, France. 846 3

A male child presented at 5 months of age with vomiting, diarrhoea, hypoglycaemia and hepatomegaly. Histology on a frozen liver biopsy suggested glycogen storage disease (GSD), while biochemical analyses confirmed an elevated glycogen content and normal activities of the GSD enzymes with the proviso that a variant of GSD 1 should be considered. The patient presented at 9 months of age with severe lactic acidosis and hypoglycaemia. A glucagon tolerance test and galactose load test on the patient produced no glycaemic response. A second biopsy was obtained and appropriately handled for the investigation of variants of the glucose-6-phosphatase enzyme (G6Pase) complex. Results showed that the patient had a deficiency of two transport proteins of the G6Pase complex, namely glucose-6-phosphate translocase and pyrophosphate translocase, i.e. GSD 1b/1c beta. These results were confirmed by additional kinetic analyses which provided confirmation of the double translocase deficiency. Evidence for inhibitors to these translocases was not found. The patient's treatment has resulted in the hypoglycaemia now being well controlled; however, at 3 years of age, height and weight are markedly lagging and he is moderately developmentally delayed. Neutropenia has not been found and neutrophil function is normal. Double enzyme deficiencies are very rare and possible explanations which might lead to this phenotype are considered. This, to the authors' knowledge, is the first report of a double translocase deficiency causing GSD type 1.
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PMID:Multiple transport protein defects in a patient with glycogen storage disease type 1: GSD 1b/1c beta. 859 36

Massive steatosis has recently been described among a few human immunodeficiency virus-seropositive patients who were receiving antiretroviral therapy. Although clinical and light-microscopic pathological findings were carefully described, no ultrastructural studies of the liver were performed in these cases. We report the light-microscopic and ultrastructural findings at autopsy of a 35-year-old woman with AIDS who developed severe lactic acidosis and hepatic failure. The patient had been receiving standard doses of zidovudine for 5 months when she was hospitalized because of the rapid onset of abdominal pain, nausea, and vomiting. The most significant findings at autopsy were massive hepatomegaly and steatosis. Ultrastructural examination of the liver and skeletal muscle showed slightly enlarged mitochondria in the liver but no mitochondrial changes in the skeletal muscle. The pathogenesis of mitochondrial toxicity associated with antiviral therapies is briefly discussed.
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PMID:Massive hepatic steatosis and lactic acidosis in a patient with AIDS who was receiving zidovudine. 864 49

To describe the clinical manifestations of dengue haemorrhagic fever (DHF) all children with a clinical diagnosis of DHF admitted to the paediatric ward of the Dr. Hassan Sadikin General Hospital (Bandung, Indonesia) between April 1st 1991 and September 30th 1993 were enrolled in a prospective study. Of the 306 children with a clinical diagnosis of DHF on admission in only 128 (41.8%) the diagnosis of DHF was confirmed by HI test. Of the confirmed cases, 24 (19%) developed shock and 1 (0.7%) died. Of the 174 cases with a negative HI test, 33 (19%) developed shock and 4 (2%) died. Four of the children died of shock before an hemagglutination inhibitor (HI) test was performed. The overall case mortality rate was 2.9%. The symptoms and signs of the 128 children with serologically confirmed DHF included fever or a history of fever (100%), petechiae (29.7%), epistaxis (39.1%), other forms of bleeding (5.5%), a positive Tourniquet test (78.1%), hepatomegaly (46.9%), epigastric pain (61.7%), vomiting (55.5%), thrombocytopenia < 100,000/mm3 (3.2% on admission and 15.3% during hospitalisation). Four (3%) children developed encephalopathy and 1 child an acute liver failure. In order to decrease the mortality associated with DHF early diagnosis and adequate case management are essential.
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PMID:Clinical manifestations of dengue haemorrhagic fever in children in Bandung, Indonesia. 866 76

A regional population-based survey identified six patients with pyridoxine dependency. Four presented on the first day of life and the other two at 1 and 8 months of age. Apart from multiple seizure types, other presenting features included jitteriness; encephalopathy, at first thought to be hypoxic-ischaemic; hepatomegaly, and abdominal distension with bilious vomiting. Later problems included break-through fits with fever; transient visual agnosia; squint; severe articulatory apraxia; motor delay with later dyspraxia; macrocephaly, and post-haemorrhagic hydrocephalus. Magnetic resonance imaging showed variable structural abnormalities in all the early onset cases. Psychometric assessment revealed a stereotyped pattern of intelligence scale subtest scores, with a specific impairment of expressive verbal ability. In a prospective open study over one year, an increased dose of pyridoxine was associated with an improvement in IQ, particularly in performance subtests. Pyridoxine dependency is more common than has been thought. It has a wider range of clinical features than the classical neonatal seizures and causes specific impairments of higher function, some of which may be reversible. The dosage of pyridoxine should be optimal for IQ as well as seizure control.
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PMID:Pyridoxine-dependent seizures: demographic, clinical, MRI and psychometric features, and effect of dose on intelligence quotient. 891 81


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