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)

The case of a girl who presented with gastrointestinal upsets with nausea, vomiting and occasional hypoglycaemic attacks during childhood is reported. At about 5 years of age generalised muscular weakness with severe amyotrophy, cardiomegaly with a cardiothoracic ratio of 0,63, left ventricular hypertrophy on electrocardiography and left ventricular dilatation with hypokinesis on echocardiography were observed. A few weeks later she developed severe cardiac failure. Muscle biopsy showed muscular dystrophy with lipid infiltration due to carnitine deficiency )serum carnitine 9 nmoles/ml, normal values: 46 +/- 6,9 nmoles/ml; muscle carnitine 0,27 nmoles/mg, normal values: 3,0 +/- 0,79 nmoles/mg fresh frozen weight). She improved rapidly with carnitine chlorhydrate and a diet low in lipids and high in medium chain triglycerides. Regression of muscular symptoms and cardiac failure was observed. After 13 months follow-up with no tonicardiac therapy she is much improved; the signs of heart failure have disappeared, the cardiothoracic ratio is now 0,55 and the electrocardiogramme and echocardiogramme are normal.
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PMID:[Lipidic myopathy with severe cardiomyopathy caused by a generalized carnitine deficiency. Favourable course during carnitine hydrochloride treatment]. 11 7

In scleroderma, the scapular striated muscles may be affected showing rapid fatigability, and sometimes, muscle wasting with EMG changes. The smooth muscle changes, well known in the esophagus, where they lead to loss of peristalsis, may also be marked in other parts of the digestive tract. They lead to various symptoms, such as cramps, vomiting and diarrhea.
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PMID:[Muscular disorders of the patient with scleroderma. Clinical study]. 16 82

Four patients having high-level quadriplegia developed elevated serum calcium concentrations (11 to 15.8 mg/100 ml) within three months of injury. All were young males (ages 15 to 19 years) and quadriplegic (C4-C7). Presenting symptoms were nausea, vomiting, polydipsia, polyuria and lethargy. In two patients severe muscle wasting and cachexia with clinical symptoms developed and persisted for several months. Laboratory studies in all patients showed negative calcium balance with hypercalciuria. Reduced renal function was seen in all patients but returned to normal with return of normal serum calcium. Alkaline phosphatase level was normal in three and elevated in one. Serum parathormone levels were normal. Roentgenograms revealed diffuse demineralization. Nephrocalcinosis and soft tissue calcifications developed in one patient. Primary treatment included reduced calcium intake, correction of dehydration, sodium infusion and remobilization. Corticosteroids, oral phosphates, furosemide and mithramycin were used with varying success to control prologned symptoms and severe hypercalcemia.
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PMID:Immobilization hypercalcemia in spinal cord injury. 83 59

A case of 25-year-old woman with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) was reported. She had short stature, episodic vomiting with headache, several episodes with homonymous hemianopsia, progressive intellectual decline, generalized convulsion, muscular atrophy, sensory disturbance on the left side of the body, and primary amenorrhea. Lactate, pyruvate and the lactate to pyruvate ratio were elevated in the serum and cerebrospinal fluid. Muscle biopsy revealed ragged-red fibers. On electron microscopy there were subsarcolemmal aggregations of abnormal mitochondria with proliferation of crista and inclusions. Activities of the respiratory chain enzymes of the muscle mitochondria were normal. She showed a failure of GH response to arginine and levodopa and delayed response of serum GH to growth hormone releasing factor (GRF). She also showed decreased gonadotropin levels and delayed response of the hormone to LH-RH. In this case, a dysfunction of the hypothalamo-pituitary axis may be related to the short stature and primary amenorrhea. It is suggested that the hypothalamo-pituitary hypofunction may be one of the characteristic features in MELAS.
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PMID:[Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) associated with hypothalamo-pituitary hypofunction--a case report]. 206 Feb 43

Hyperemesis gravidarum causes uncontrollable vomiting, severe dehydration and muscle wasting in pregnancy and usually requires weeks or months of intravenous fluid therapy. A consecutive series of 7 women with hyperemesis gravidarum were treated with high-dose steroid therapy. Vomiting stopped within 3 h of the first dose of intravenous hydrocortisone in all patients. Maintainence oral prednisolone therapy in doses up to 45 mg/day permitted discharge from hospital within days, resumption of normal eating, reversal of muscle wasting and regain of lost weight (mean loss from prepregnant weight 10.5 +/- 4.3 kg). Prednisolone in doses of 15 mg/day or more was required for 10.6 +/- 4.7 (range 6-20) weeks. High-dose prednisolone therapy is effective in suppressing symptoms of intractable hyperemesis gravidarum and allowing normal maternal nutrition.
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PMID:Successful management of hyperemesis gravidarum using steroid therapy. 872 50

A 14-year-old girl with the mitochondrial neurogastrointestinal encephalopathy syndrome had an 8-year history of intestinal pseudoobstruction with abdominal pain, persistent vomiting, gastric and duodenal dilatation, and duodenal diverticulosis. The child appeared chronically malnourished and had severe growth failure. Multisystem involvement was evident with the presence of ptosis, external ophthalmoplegia, muscle wasting, peripheral neuropathy, and diffuse white matter disease seen on magnetic resonance imaging. Lactic acidosis and increased cerebrospinal fluid protein were observed. Mitochondrial enzyme analysis of fresh-frozen skeletal muscle revealed a respiratory chain defect. Molecular genetic studies showed multiple mitochondrial DNA deletions. Pathologic findings in the intestine included atrophy of the external layer of the muscularis propria and an increased number of abnormal-appearing mitochondria in ganglion and smooth-muscle cells. Microvesicular steatosis was observed in liver, skeletal, and gastrointestinal smooth muscle, and Schwann cells of peripheral nerve. Brightly eosinophilic inclusions in the cytoplasm of gastrointestinal ganglion cells were visible by light microscopy, which were confirmed to be megamitochondria by ultrastructural studies. This is the first report of abnormal mitochondria observed in intestinal ganglion and smooth-muscle cells in this syndrome.
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PMID:Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. 973 48

We have recently observed a large pedigree with a new rare autosomal dominant spastic paraparesis. In three subsequent generations, 13 affected individuals presented with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and spastic paraparesis with amyotrophy. Bilateral cataracts occurred in all affected individuals, with the exception of one patient who presented with a chorioretinal dystrophy, whereas clinical signs of spastic paraparesis showed a variable expressivity. Using a genomewide mapping approach, we mapped the disorder to the long arm of chromosome 10 on band q23.3-q24.2, in a 12-cM chromosomal region where additional neurologic disorders have been localized. The spectrum of phenotypic manifestations in this family is reminiscent of a smaller pedigree, reported recently, confirming the possibility of a new syndrome. Finally, the anticipation of symptoms suggests that an unstable trinucleotide repeat may be responsible for the condition.
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PMID:Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy. 997 97

Protein-energy malnutrition is an inevitable consequence of chronic liver disease, particularly in the developing infant. Severe malnutrition with loss of fat stores and muscle wasting affects between 60% and 80% of infants with liver disease (Beath, 1993a; Holt et al, 1997). Reduced energy intake secondary to anorexia, vomiting and fat malabsorption, in association with a disordered metabolism of carbohydrate and protein, increased energy requirements and vitamin and mineral deficiencies, contributes towards growth failure. Reversal of malnutrition is one of the key aims of liver transplantation and is achieved in the majority of long-term survivors. The aetiology of persistent growth failure post-transplantation is multifactorial and is related to pre-operative malnutrition, glucocorticoid administration, feeding problems and post-operative complications. Strategies to prevent pre- and post-transplant growth failure include early referral for liver transplantation and a multidisciplinary approach to nutritional support, which may increase survival and improve the quality of life and outcome of liver transplantation.
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PMID:Cholestasis and end-stage liver disease. 1007 9

We have recently mapped a new rare form of spastic paraplegia complicated by bilateral cataracts, gastroesophageal reflux with persistent vomiting, and amyotrophy to chromosome 10q23.3-q24.2. This locus, named SPG9, is located in an interval spanning about 12 cM of genomic DNA, between markers D10S536 and D10S603, where different neurological disorders have been mapped. In particular, a gene for partial epilepsy has been assigned to a 3 cM interval between markers D10S185 and D10S577, which is completely included in the SPG9 critical region. A few families affected with spastic paraplegia and epilepsy have been reported; in the present study, we tested a pedigree with concurrence of spastic paraplegia, epilepsy, and mental retardation inherited as an autosomal dominant trait, using markers located in the SPG9 interval. Haplotype reconstruction excluded the linkage to 10q23.3-q24.2. In addition, the seven different loci so far reported to be associated with autosomal dominant pure forms of spastic paraplegia have been tested and excluded by linkage analysis and haplotype reconstruction, including SPG4 on chromosome 2p22-p21, where a familial form of spastic paraplegia associated with dementia and epilepsy has been mapped. These data confirm genetic heterogeneity in familial spastic paraplegia with epilepsy and suggest a specific locus for the family here analyzed.
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PMID:Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. 1256 7

Astronauts and scientists are scheduled to stay aboard the International Space Station (ISS) for three-month periods, and various problems relating to the human ability to live in space for such long periods of time, as well as medical problems, are being studied. For the crews that have operated and worked on the US space shuttle, the longest time spent in the gravity-free (accurately speaking, microgravity) environment of space has been about two weeks. Even such short periods have generated reports of various physical changes and symptoms caused by the absence of gravity. Particularly striking effects are circulatory system changes, muscular atrophy and decalcification of bones. In addition, serious problems arise during the time in space due to the symptoms of space motion sickness, caused by neuro-otological changes. Space motion sickness is experienced by nearly 70% of the first-time astronauts, in the form of such symptoms as nausea, and vomiting. It is said that space motion sickness develops at the time of adaptation of the body to the gravity-free environment. Unlike motion sickness on Earth, space motion sickness is characterized by a feeling of fullness of the head, a hot face and reduced sweating. The provocative factors include movement of the head in the pitch and roll directions and the unusual visual field. This paper reviews the research that has been carried out to date on space motion sickness, and its counter measures comprehensively, in terms of the changes in the otolith organ as well as asynchronization of information between the movements of the head and eyeballs, the deep sensations and body fluid shifts. Other problems, which may be encountered as a result of yet longer stays in space, are also discussed.
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PMID:[Mechanism of development of space motion sickness]. 1273 83


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