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

Between May-October 1989, physicians selected 50 mothers of low socioeconomic and educational background with Down Syndrome (DS) children who attended the Genetic Clinic at the Institute of Child Health and Hospital for Children in Madras, India for a study to evaluate their knowledge, attitude, and practices. The study consisted of a preevaluation, education and genetic counseling, and reevaluation at 3 months. Only 18% of the mothers knew that their children had DS. Physicians had diagnosed it at birth in these cases. Most mothers (62%) came to the hospital because they had noticed developmental delay. Most (64%) did not know what caused DS. 36% believed DS occurred due to various prenatal events including poor diet, weakness, injury, abortifacients, abdominal pain, vomiting, and long birth intervals. Family tended to blame the mothers for the child's disability which evoked social and emotional problems. When 52% learned of their children's handicap, they suffered depression. 80% did not know that their children required special care. Once learning this, however, most mothers (88%) wanted either themselves or someone else to care for their children. 96% breast fed their children and weaned them properly. 90% of the children had received immunizations. After genetic counseling and health education, all mothers understood their children's condition. 75% worked with their children at home doing passive exercises and developing their vocabulary. The rearing practices of the DS children were the same as those of the normal children. The mothers learned via the health education and genetic counseling that family planning and amniocentesis could prevent the birth of a DS child. The health education and genetic counseling program improved mothers knowledge, attitude, and practices toward child-rearing practices of DS children. This program can be duplicated among poor and illiterate parents in rural areas.
 ...
PMID:KAP study on mothers of children with Down syndrome. 183 90

Alpers disease consists of diffuse cerebral degeneration manifested as developmental delay, seizures, vomiting, and progressive neuromuscular deterioration, with liver disease and death. We report the clinical course of the liver disease, histologic progression of the hepatic lesions, and etiologic investigations in five patients (four girls, three kinships). All had grown and developed normally until seen at 6 to 36 months of age (mean 20 months), with vomiting (n = 5), progressive hypotonia (n = 3), or seizures (n = 2). All had been given anticonvulsants, including valproic acid in three. Liver disease was noted at a mean age of 35 months (range 9 to 67 months), with hepatomegaly (two patients), abnormal hepatic synthetic function (three) or transaminase values (three), and cirrhosis in one. Patients survived for a mean of 4.6 weeks (range 1 to 8 weeks) after the identification of liver disease; all died of hepatic failure. Results of evaluation for infectious and metabolic causes of liver disease and causes of degenerative neuromuscular disease were negative in all patients. Premortem liver biopsy specimens (n = 3) demonstrated an early lesion consisting of lobular disarray, microvesicular steatosis, periportal acute and chronic inflammation, and individual hepatocyte necrosis. Autopsy findings (n = 5) consisted of macrovesicular steatosis, massive hepatocyte dropout, and proliferation of bile ductular elements, with almost complete replacement of hepatocytes by proliferating bile ductular elements in two patients. Brain showed characteristic neuronal degeneration. We conclude that Alpers disease can be a cause of rapidly progressive liver failure in early childhood. Although the cause of this autosomal recessive disease is not known, it does not appear to be related to peroxisomal dysfunction.
 ...
PMID:Liver involvement in Alpers disease. 186 Dec 11

A case with acute disturbance of consciousness associated with calcium hopanthenate (HOPA) administration was reported. He was a 3-year-old boy with autistic developmental delay, had orally taken 1.5 g of HOPA daily for 3 months. Clinical manifestations consisted of fever, vomiting and coma. Laboratory examination revealed severe hypoglycemia and metabolic acidosis, but there were no hepatic enzyme abnormalities. Analysis of urinary organic acid profile showed that very large amounts of medium and long chain dicarboxylic acids and omega-1 hydroxy-fatty acids were excreted. In particular, 2-hydroxysebacic acid, the accumulation of which has only been reported in the urine of patients with Zellweger syndrome and neonatal adrenoleukodystrophy (NALD), was observed. Analysis of urinary acylcarnitines showed that acetylcarnitine was predominant and C6-C10 dicarboxylic acylcarnitines were also excreted. He was treated with and rapidly responded to intravenous glucose and bicarbonate. After withdrawal of the drug he has had no problems and dicarboxylic aciduria disappeared. A CT scan showed symmetric, low density areas in periventricular white matter, especially around the posterior horns of the lateral ventricles. A T2-weighted MRI scan revealed high-intensity signal in the white matter corresponding to areas of low density on CT scan. We conclude that that a large amount of HOPA administration may cause encephalopathy by the inhibition of both mitochondrial and peroxisomal beta-oxidation.
 ...
PMID:[Clinical and biochemical studies in a case of acute encephalopathy associated with calcium hopanthenate administration]. 219 43

Yersinia pseudotuberculosis (Y. pseudotuberculosis) infection is an intestinal infectious disease comparable in importance as those with Campylobacter or Salmonella. Clinical symptoms of Y. pseudotuberculosis infection vary. In this report, we will describe the clinical symptoms and immunological conditions of the patients with Y. pseudotuberculosis infection, including 2 or our own cases. Case 1 was a 4 years old male infant admitted to the hospital with major complaints of fever, diarrhea, and vomiting. Kawasaki disease was the most suspected diagnosis from the clinical viewpoint. These symptoms improved by symptomatic treatments. Serum examination during hospitalisation revealed the infection of Y. pseudotuberculosis 4a. Case 2 was a 7 months old male baby with psychomotor developmental delay. The patient was admitted to hospital with major complaints of fever and eruptions. The patient was diagnosed to have a severe infectious disorder based on the clinical symptoms and findings of laboratory tests. Treatments with antibiotics improved the conditions. Serum examination during hospitalisation also revealed the Y. pseudotuberculosis 5a infection. Both of these cases showed decreased cellular immunity during the acute phase of the infection which was normalized with the improvement in clinical conditions. It was thus suggested that Y. pseudotuberculosis had a possibility to influence the cellular immunity of hosts transiently but significantly.
 ...
PMID:[Two cases of Yersinia pseudotuberculosis infection in children]. 228 88

Genetic deficiency of short-chain acyl-coenzyme A (CoA) dehydrogenase activity was demonstrated in cultured fibroblasts from a 2-yr-old female whose early postnatal life was complicated by poor feeding, emesis, and failure to thrive. She demonstrated progressive skeletal muscle weakness and developmental delay. Her plasma total carnitine level (35 nmol/ml) was low-normal, but was esterified to an abnormal degree (55% vs. control of less than 10%). Her skeletal muscle total carnitine level was low (7.6 nmol/mg protein vs. control of 14 +/- 2 nmol/mg protein) and was 75% esterified. Mild lipid deposition was noted in type I muscle fibers. Fibroblasts from this patient had 50% of control levels of acyl-CoA dehydrogenase activity towards butyryl-CoA as substrate at a concentration of 50 muM in a fluorometric assay based on the reduction of electron transfer flavoprotein. All of this residual activity was inhibited by an antibody against medium-chain acyl-CoA dehydrogenase. These data demonstrated that medium-chain acyl-CoA dehydrogenase accounted for 50% of the activity towards the short-chain substrate, butyryl-CoA, under these conditions, but that antibody against that enzyme could be used to unmask the specific and virtually complete deficiency of short-chain acyl-CoA dehydrogenase in this patient. Fibroblasts from her parents had intermediate levels of activity towards butyryl-CoA, consistent with the autosomal recessive inheritance of this metabolic defect.
 ...
PMID:Genetic deficiency of short-chain acyl-coenzyme A dehydrogenase in cultured fibroblasts from a patient with muscle carnitine deficiency and severe skeletal muscle weakness. 333 34

We reviewed the natural history and differential diagnosis of ornithine transcarbamylase deficiency (an X-linked inborn error of urea synthesis) in 13 symptomatic female heterozygotes. The patients presented as early as the first week of life or as late as the sixth year. The most common symptoms before diagnosis were nonspecific: episodic extreme irritability (100 percent), episodic vomiting and lethargy (100 percent), protein avoidance (92 percent), ataxia (77 percent), Stage II coma (46 percent), delayed physical growth (38 percent), developmental delay (38 percent), and seizures (23 percent). Including the proband, 42 percent of the female members of the 13 families studied had symptoms. The median interval between the onset of major symptoms (vomiting and lethargy, seizures, and coma) and diagnosis was 16 months (range, 1 to 142). Five patients had IQ scores below 70 at the time of diagnosis. We suggest that careful evaluation of the family history, the dietary history, the episodic nature of the nonspecific symptoms, the response of these symptoms to the withdrawal of protein, and their frequent onset at the time of weaning from breast milk will permit early diagnosis and might thereby reduce the risk of death or neurologic impairment in female patients with partial ornithine transcarbamylase deficiency.
 ...
PMID:Natural history of symptomatic partial ornithine transcarbamylase deficiency. 394 92

Ornithine transcarbamylase deficiency is an X-linked recessive disorder of urea biosynthesis characterized by recurrent, often fatal, hyperammonemic encephalopathy in affected males; carrier females are usually asymptomatic. We report here the clinical and laboratory findings in five symptomatic heterozygous females with ornithine transcarbamylase deficiency. In each case, the onset of symptoms occurred in the 1st year of life, but diagnosis was delayed by up to 15 years. Symptoms included recurrent vomiting with lethargy (five patients), dietary protein intolerance (five), irritability (four), severe acute encephalopathy (three), ataxia (three), and acute hemiparesis (two). All eventually showed evidence of developmental delay or learning difficulties. Two of the three who experienced severe, acute, hyperammonemic encephalopathy suffered serious, permanent neurologic sequelae. Three of the patients showed decreased ornithine transcarbamylase activity in liver obtained by needle biopsy, and the other two had marked orotic aciduria associated with hyperammonemia. Neuroimaging studies demonstrated persistent abnormal lobar attenuation and abnormal signal on computed tomographic scan and magnetic resonance imaging. All patients showed marked symptomatic improvement on treatment with dietary protein restriction supplemented by pharmacologic measures to increase nonprotein nitrogen excretion. Ornithine transcarbamylase deficiency should be considered in the differential diagnosis of acute or chronic encephalopathy in females at any age.
 ...
PMID:Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy. 749 56

This article describes the metabolic investigations to be applied in any clinical situation consistent with a late acute form of inborn error of metabolism: unexplained coma with or without focal neurological manifestations, recurrent vomiting with lethargy, episodes of ataxia with or without behaviour disorder, fits of psychiatric troubles. In each of these situations, careful medical history is of major importance searching for previous clinical manifestations such as episodes of coma, ataxia or vomiting, anorexia, failure to thrive, developmental delay, all very suggestive of metabolic disorder. The association of neurological symptoms and abnormal hepatic tests is also of great value and must not lead to the diagnosis of Reye's syndrome without considering a metabolic defect of fatty acid oxidation, urea cycle, respiratory chain, or Wilson's disease. When looking for an etiological origin, it is mandatory to collect all the biological information at the same time, also knowing that metabolic abnormalities may be mild and transitory, and that many of them are non specific (metabolic acidosis, hyperlactacidemia, hyperammonemia, hepatic tests disturbances) being encountered in collapsus, shock and multiple organ failure syndrome.
 ...
PMID:[Diagnosis of metabolic coma in children]. 784 29

To avoid red blood cell (RBC) transfusions, recombinant human erythropoietin (rHuEPO) was given to an infant born at a gestation of 26 weeks and a birthweight of 830 g to parents who were Jehovah's Witnesses. The infant had hyaline membrane disease and required 52 days of assisted ventilation and 19 days of oxygen therapy. He received theophylline therapy for 61 days for recurrent apnoea and bradycardia. He developed bilateral intraventricular haemorrhage (IVH) and left-sided periventricular leucomalacia (PVL). Intravenous rHuEPO was started on day 1 at 200 U/kg per day for 1 month followed by subcutaneous rHuEPO 400 U/kg three times a week for 6 more weeks, supplemented with Vitamin E, folic acid and iron. Blood sampling was kept to a minimum and non-invasive blood-gas monitoring was used consistently. Consequently, the estimated cumulative volume of blood loss from sampling was only 21 mL during his hospital stay. His haemoglobin (Hb) was 150 g/L at birth and this fell to below 100 g/L from day 25 onwards. His lowest leucocyte count was 3.6 x 10(9)/L. He was discharged on day 83 with a Hb of 95 g/L, Hct of 29%, reticulocyte count of 2.8% and weight of 2400 g. At a postnatal age of 3 months, he had a Hb of 113 g/L. At 6 months, investigations showed: Hb 121 g/L, haematocrit 33%, reticulocyte 1% and a weight of 4.4 kg. He was readmitted to hospital once for an episode of vomiting and follow up to date showed developmental delay.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Avoidance of red blood cell transfusion in an extremely preterm infant given recombinant human erythropoietin therapy. 794 52

Two new cases of malonyl coenzyme A (CoA) decarboxylase deficiency are described. Hitherto, the worldwide experience of the disorder has been confined to reports on two affected Australian children. The new cases are Scots born and are the offspring of consanguinous parents of Scots/Irish origin. They were investigated during episodes of vomiting and febrile convulsions associated with concomitant developmental delay. Malonic aciduria and grossly reduced malonyl CoA decarboxylase activity were demonstrated and the total ion current chromatograms of urinary organic acid profiles obtained by gas chromatography-mass spectrometry are presented. The clinical and biochemical features of the Scots and Australian patients are compared.
 ...
PMID:Malonyl coenzyme A decarboxylase deficiency. 825 73


1 2 3 4 5 6 7 Next >>