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)

Recurrent episodes of hypoglycemia, prostration, vomiting, and hepatomegaly were observed in an infant fed a carnitine-free soy formula. The extremely low plasma and urinary carnitine concentrations, elevated plasma free fatty acids, disproportionately low plasma beta hydroxybutyrate, and elevated urinary dicarboxylic acids, in the presence of a fatty liver, suggested that carnitine deficiency was the basis for this child's metabolic disturbance. When the infant was fed an enriched carnitine diet, remarkable clinical, biochemical, and histologic improvement was observed. The possibility that carnitine may be an essential nutrient for some infants is raised by the findings in this patient.
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PMID:Dietary-dependent carnitine deficiency as a cause of nonketotic hypoglycemia in an infant. 727 94

A young, diabetic woman suffering from fainting spells, vomiting, and diarrhea is described. Extensive investigations showed total cardiac denervation, orthostatic hypotension, and disturbances in the the pupillary and sudomotor functions, as well as impairment of glucagon secretion during hypoglycemia. These disturbances were found to be caused by autonomic neuropathy. No signs of peripheral neuropathy could be detected. To the best of our knowledge this is the second case of total cardiac denervation due to diabetic neuropathy described in the literature.
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PMID:Cardiac denervation and other multisystem manifestations caused by isolated autonomic neuropathy in a young diabetic patient. 743 22

Salicylate poisoning remains a major clinical hazard, usually resulting from accidental ingestions in preschool children, suicidal overdoses in adults and teenagers, and therapeutically acquired intoxication in all ages. Alkalemia or acidemia, alkaluria or aciduria, hypoglycemia or hyperglycemia, and water and electrolyte imbalances may occur; nausea, vomiting, tinnitus, hyperpnea, hyperpyrexia, disorientation, coma, and/or convulsions are common. With chronic, therapeutically induced salicylism, these symptoms may be mistaken for symptoms resulting from the illness for which the salicylates were administered. For acute ingestions, the magnitude of the poisoning is clearly dose related. Blood level determinations are good prognostic indicators for acute ingestions but are of limited value in chronic, therapeutically induced salicylism. Fluid and electrolyte management is the mainstay of therapy. Diuresis, hemodialysis, and hemoperfusion are effective, but the latter two rarely are necessary.
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PMID:Acute and chronic effects of aspirin toxicity and their treatment. 746 27

To define a maximum tolerable dose, chloroquinoxaline sulfonamide (CQS) was given as a 1-h infusion every 28 days to cancer patients for whom no effective standard therapy was available. Doses were escalated in cohorts of at least three patients each. Plasma for characterization of the pharmacokinetics of free and total CQS was obtained during and after the initial infusion and, when possible, during and after subsequent infusions of CQS if the dose had been reduced. A total of 101 courses of CQS in 55 patients were evaluated. Dose levels ranged from 18 to 3,700 mg/m2. The dose-limiting toxicity was hypoglycemia, first recognized at the 3,700-mg/m2 dose. When dose-limiting hypoglycemia was recognized, patients were entered at successively lower doses, with close monitoring of plasma glucose and insulin concentrations being done in 26 patients. Grade 1-3 hypoglycemia occurred within 4 h of the termination of CQS infusion and cleared by 24 h. Symptomatic hypoglycemia was more frequent at doses of CQS above 1,000 mg/m2. Concomitant administration of 5% glucose did not ameliorate the hypoglycemia associated with CQS doses of > 1,000 mg/m2. The total calorie intake, percentage of ideal body weight, or percentage of weight lost did not explain the incidence or severity of hypoglycemia in 12 patients in whom these data were obtained. Cardiac tachyarrhythmias occurred in 7 patients who received CQS at doses of > or = 1,000 mg/m2, and tachyarrhythmia was associated with hypoglycemia in 3 patients. Other toxicities were sporadic, but the frequency of toxicity was higher at CQS doses of > or = 1,000 mg/m2. These toxicities included fever, rash, lightheadedness, leukopenia, thrombocytopenia, alopecia, diarrhea, nausea, and vomiting. All toxicities were reversible. Mean peak plasma [CQS] and AUC increased with dose, with a suggestion that peak plasma [CQS] plateaued at higher doses. The decline in plasma [CQS] was fitted to a three-compartment, open linear model. The terminal half-life ranged from 28 to 206 h. Total body clearance ranged from 44 to 881 ml/h with no evidence of saturation. Urinary excretion of the parent compound in 24 h averaged < 5%. CQS not bound to plasma protein (free CQS) comprised 1%-17% of total plasma CQS and was not related to dose. A relationship was defined between the magnitude of hypoglycemia and CQS pharmacokinetic parameters. The percentage of decrease in plasma [glucose], i.e., (predose [glucose]-nadir [glucose]/predose [glucose]) x 100, correlated with both free and total peak plasma [CQS].(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:Phase I trial of chloroguinoxaline sulfonamide, with correlation of its pharmacokinetics and pharmacodynamics. 749 83

Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is a defect in the mitochondrial oxidation of fatty acids. The disorder typically presents with episodes of vomiting and hypoglycemia, sometimes with changes in mental status and hepatic failure. These Reye's-like features may culminate in coma and death. Stress, intercurrent illness, and reaction to childhood immunization have been shown to precipitate acute metabolic episodes in MCAD patients. All cases are caused by mutations of the single MCAD gene on chromosome 1. Most clinically ascertained cases are caused by an A985G transition in exon 11. Here we report the preliminary findings of MCAD patients detected prospectively through a supplemental newborn screening program in Pennsylvania using tandem mass spectrometry. From the first 80,371 newborns screened we prospectively found nine babies with MCAD (1/8930) plus two additional newborns screened because of a previously known family history. Molecular analysis showed 56% of the detected patients to be compound heterozygotes for the A985G and a second mutation. This is in contrast to clinical retrospective studies which have found only 20% to be compound heterozygotes. We have identified two of the other mutations including a novel mutation (DG91/C92, 6-bp deletion) in one of our patients by using single-stranded conformation polymorphism (SSCP) and sequence analysis of conformers. Our results confirm that MCAD is one of the more common inborn errors of metabolism. The different mutation frequencies observed between retrospective clinical studies and our prospective newborn screening study suggest that clinical ascertainment may lead to preferential identification of the A985G mutation.
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PMID:Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. 760 90

Congenital Adrenal Hyperplasia (C.A.H.) is an autosomal recessive disorder which is often life threatening during the neonatal period prior to establishment of the diagnosis and instigation of appropriate treatment. In females the condition is usually detected at birth due to genital ambiguity. Unfortunately males or extremely virilized females often remain undetected until they suffer a potentially fatal adrenal crisis. Typically, a crisis occurs within the first couple of weeks of life and is preceded by a history of failure to thrive, lethargy and vomiting which may be misdiagnosed as resulting from pyloric stenosis. Vascular collapse and diminished consciousness ensue if adrenal insufficiency remains undetected. Initial biochemical investigation of the shocked neonate with C.A.H. reveals severe hyperkalaemia and hyponatraemia, which initially may be thought to be due to renal failure. Hypoglycaemia may also be a feature. Initial resuscitation requires intravenous saline and hydrocortisone. Once physiologically stable, oral steroids are used to replace absent glucocorticoids and mineralocorticoids. The psychosocial impact of having a critically ill baby, with a relatively uncommon genetic disorder, who requires lifelong treatment can be overwhelming for parents. There is an ongoing risk of adrenal crisis throughout the child's life during periods of physiological stress. Parents require education on the management of medication during normal childhood illnesses; the early indicators of crisis and instruction in injection technique. In addition to skilled technical nursing interventions for their baby, parents can benefit from accurate information and contact with the C.A.H. support group.
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PMID:Congenital adrenal hyperplasia: a potential diagnosis for the neonate in shock. 762 Feb 64

The charts of 16 patients with branched chain amino acidemia (MSUD) who had 48 emergency room (ER) visits, of 10 patients with propionic acidemia (PA) who had 57 ER visit, and of 13 patients with methylmalonic acidemia (MMA) who had 154 ER visits, were reviewed retrospectively for the most common clinical presentations, physical and laboratory findings. The most common clinical presentation was acute or chronic vomiting and the most common physical finding was dehydration. When hypoglycemia was found, the mental status of 55% of patients with MSUD and MMA and 20% of patients with PA, was alert. Mixed acid/base disturbance, i.e. alkalosis caused by vomiting mixed with metabolic acidosis caused by the disease, was present in 30% of MSUD, in 33% of PA, and 45% of MMA. There was no relationship between acidosis detected by the blood pH and mental status of the patients. A good correlation between base excess < -5 and serum bicarbonate < 21 mmol/l was found. Blood cultures were positive for bacteria and fungi in 15% of the visits with MSUD, in 23% with PA, and 3% with MMA. Patients with positive blood cultures did not necessarily have a temperature > 39 degrees C nor hypothermia. The results suggest that the mental status of the patients should not detract the ER physician from obtaining blood pH, gases and glucose and in all instances a blood culture should be secured, even if the patient has no fever.
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PMID:Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). 772 86

Coma and vomiting are the commonest symptoms in young teenagers intoxicated by alcohol. Severe toxicity, manifested as coma, occurs at lower blood alcohol concentrations in young teenagers than in adults. The effect of ethanol on the state of consciousness is directly proportional to blood alcohol concentration. Among children under 5 years of age the risk of hypoglycaemia is increased. A significant risk in acute alcohol intoxication is the rapid development of coma, which in cold environments could lead to fatal hypothermia. Preschool-age children are reported to eliminate ethanol twice as fast as adults, whereas young teenagers eliminate it at the adult rate. The biochemical disturbances in children 11 to 16 years of age with alcohol intoxication resemble those of adults. Mild acidosis of a respiratory or metabolic origin and mild hypokalaemia are common findings in young teenagers. Fluid replacement with glucose-containing fluids and follow-up are generally the only treatments needed for complete recovery. Motives leading to alcohol intoxication are a wish to get drunk, experimenting, problems in human relations, and attempted suicide. The underlying problems are often family-related, such as divorce, an alcoholic parent and a lower socioeconomic group.
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PMID:Alcohol intoxication in childhood and adolescence. 774 76

Severe toxicity from ethanol, manifested as coma, occurs at lower blood alcohol concentrations in young teenagers than in adults. Coma, vomiting and hypothermia are the commonest symptoms in young teenagers intoxicated by alcohol. The biochemical disturbances in children 11-16 years of age with alcohol intoxication resemble those of adults. Mild acidosis of a respiratory and metabolic origin and mild hypokalaemia are common findings in young teenagers. Young teenagers eliminate ethanol at the same rate as adults, whereas preschool age children are reported to eliminate ethanol twice as fast. The effect of ethanol on the state of consciousness is directly proportional to the blood alcohol concentration. Among small children the risk of hypoglycaemia is increased. Data on family history, social status, drinking habits, and children's motives for getting drunk are also of clinical importance. Fluid replacement with glucose-containing fluids and follow up are generally the only treatments needed for complete recovery. When children and adolescents are healthy, well-nourished and have not fasted, no severe complications are expected.
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PMID:Acute alcohol intoxication among children and adolescents. 785 87

Vibrio cholerae O139 was recovered from 28 of 79 children with acute watery diarrhoea. Clinically, they presented with watery diarrhoea (100%), vomiting (79%), abdominal cramps (61%), anorexia (61%), dehydration (100%), and absence of fever. Both clinical and blood biochemical parameters of these cases were similar to the illness caused by the new strain in adults. Hypoglycaemia was seen in 40% of those screened.
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PMID:Vibrio cholerae O139 in Calcutta. 794 42


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