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)

Carnitine metabolism is reviewed in lipid storage myopathies, diabetes, vomiting sickness of Jamaica, malnutrition, hyperthyrodism, Duchenne dystrophy, and a few other disease states.
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PMID:Carnitine metabolism in human subjects. III. Metabolism in disease. 41 8

A case-control study was undertaken to see if symptoms of upper gastrointestinal (UGI) (oropharyngeal, esophageal, and gastric) dysfunction occurred more frequently in males afflicted with Duchenne muscular dystrophy (DMD) than healthy controls. Subjects included 55 children with confirmed DMD and 55 age-matched controls without neuromuscular disease. All subjects and/or their parents responded to a standard set of questions concerning the frequency of symptoms of UGI dysfunction. Responses of the DMD and control groups were compared using the Wilcoxon signed rank test. A significantly higher percentage of DMD patients experienced nasal quality to the voice, dysphagia, choking while eating, the need to clear the throat during or after eating, heartburn, and vomiting during or after meals, than did controls. Only one symptom--heartburn--was found significantly more frequently in the 33 nonambulatory than the 22 ambulatory DMD subjects. These findings document that feeding difficulty and symptoms consistent with oropharyngeal, esophageal, and gastric dysfunction are more frequent in the DMD population than healthy, age-matched controls.
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PMID:Symptoms of upper gastrointestinal dysfunction in Duchenne muscular dystrophy: case-control study. 240 80

This is a report of a case of Duchenne muscular dystrophy (DMD), with multiple infarcts in the territories of the basilar artery. He developed abrupt vomiting and transient left hemiparesis at the age of 4 years. The episodes were seen 3 times between 4-year-1-month to 5-year-1-month old. Transaxial computerized tomography (CT) revealed multiple, well-defined but irregularly marginated areas of low density centered in the mid- and upper pons, right cerebral peduncle and thalamus. A right vertebral angiogram illustrated the narrowed basilar artery. The rectus femoris muscle was biopsied at the age of 4-year-1-month which showed marked variation in fiber size, myonecrosis with phagocytosis, central nuclei, and adipose and connective tissue proliferation, which were consistent with those seen in DMD. It remains unknown whether the basilar artery occlusion was an incidental event in this particular case or closely related to the disease process of DMD.
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PMID:Basilar artery occlusion in a case of Duchenne muscular dystrophy. 713 15

A 15 year old boy with Duchenne muscular dystrophy had severe pain in the lower abdomen and complained of nausea and bilious vomiting. A physical examination and an abdominal X-ray indicated an acute gastric dilation. With a treatment policy of administering nothing orally, a downward-hanging stomach tube and the intravenous administration of fluid the symptoms subsided. In Duchenne muscular dystrophy there may also be atrophy of the smooth muscle layers, in addition to the known progressive atrophy of striated skeletal and cardiac muscle. This may cause clinical dysfunctioning of the gastro-intestinal tract in the second decade of life.
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PMID:[Acute gastric dilatation in Duchenne's muscular dystrophy]. 1110 61

Duchenne muscular dystrophy (DMD), glycerol kinase deficiency (GKD), and adrenal hypoplasia congenita (AHC) can occur together as part of a contiguous gene syndrome located at chromosome Xp21, GKD can manifest with recurrent episodes of vomiting, acidemia, mental retardation, or stupor. Involvement of the AHC gene can produce life-threatening adrenal insufficiency, sexual ambiguity, and electrolyte abnormalities. These associated conditions can make the diagnosis of DMD difficult. Neuromuscular specialists need to be aware of this contiguous gene syndrome because the potential life-threatening complications of GKD and AHC can be treated.
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PMID:Duchenne muscular dystrophy and glycerol kinase deficiency: a rare contiguous gene syndrome. 1907 86

A 20-year-old man with Duchenne muscular dystrophy (DMD) with recurrent gastric volvulus underwent percutaneous endoscopic gastrostomy (PEG). Four months later, he developed vomiting and consciousness disturbance. CT revealed gastric volvulus recurrence along the gastrostomy axis. Endoscopic repositioning failed and fistula perforation necessitated emergency surgery. The upper position of the stomach was twisted counter-clockwise and revolved on the gastrostomy axis sliding between the lower stomach and abdominal wall. The fistula showed necrotic perforation and was thus resected. The anterior stomach wall was fixed to the abdominal wall at 3 triangular points. Thereafter, gastric volvulus did not recur. PEG is reportedly effective for preventing gastric volvulus, but there are rare cases of postgastrostomy recurrence. This successfully managed case provides valuable clinical insights.
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PMID:[Recurrent gastric volvulus resolved surgically after therapeutic percutaneous endoscopic gastrostomy in Duchenne muscular dystrophy]. 2239 7

The abdominal complications of Duchenne muscular dystrophy (DMD) include acute gastric dilatation, superior mesenteric artery (SMA) syndrome, ileus and constipation. We report herein a patient with DMD in whom SMA syndrome was successfully treated with enteral tube nutrition. The patient was a 16-year-old boy diagnosed with DMD at 2 years. Steroid therapy was started at 5 years, and he was unable to walk and was wheelchair-bound at 11 years. Lordoscoliosis progressed after the age of 14 years. Noninvasive mechanical ventilation was introduced due to respiratory impairment at 15 years. During 8 months with respiratory impairment, his body weight decreased from 40.3 kg to 33.4 kg. He was referred to our hospital for vomiting and hematemesis. Radiographic studies indicated a diagnosis of SMA syndrome. Enteral nutrition with a nasojejunal tube successfully treated SMA syndrome for 5 months and his body weight increased from 32.7 kg to 36.1 kg. Gastrostomy was subsequently performed and no recurrence was evident. SMA syndrome is caused by compression of the third part of the duodenum at the angle between the aorta and SMA. The conditions for duodenal vascular compression are weight loss resulting in depletion of the retroperitoneal fat and progressive lordosis. The reasons for SMA syndrome with our patient were weight loss and progressive lordoscoliosis. A conservative approach with enteral nutrition promoted weight gain, increasing retroperitoneal fat. Enteral nutrition should be considered for the treatment of SMA syndrome as a complication of DMD.
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PMID:[Enteral nutrition ameliorated superior mesenteric artery syndrome in a patient with Duchenne muscular dystrophy]. 2701 9

Heart implication in Duchenne muscular dystrophy usually is present in the form of dilated cardiomyopathy, manifested as heart failure and arrhythmias. To delay progression, including heart deterioration, prednisone is recommended as preventive treatment. We report the case of an 11-year-old boy diagnosed with Duchenne muscular dystrophy at the age of seven, who was on preventive treatment with oral prednisone (0.75 mg/kg/day) and beta blocker (metoprolol, 1 mg/kg/day). Suddenly, the patient presented acute chest pain, vomiting and sweating. The electrocardiogram showed ST elevation in inferior leads. Troponin T was increased to 30814 pg/ml (normal values <14 pg/mL). The echocardiography revealed reduced contractility of the posteroinferior wall of the left ventricle. After excluding coronary implications by coronary angiography, we increased the oral prednisone to 1.4 mg/kg/day for five days and added enalapril (0.5 mg/kg/day, po). The response was positive, with a rapid decrease of the troponin T value to 3186 pg/mL in five days and gradual recovery of myocardial contractility afterwards.
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PMID:Acute Myocardial Injury in a Child with Duchenne Muscular Dystrophy: Pulse Steroid Therapy? 2921 65

X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans. Duchenne muscular dystrophy, the most common phenotype, and Becker muscular dystrophy are often recognizable by certain clinical features; however, less frequent presentations require a higher degree of suspicion. In this article, we describe a series of 6 children (4 boys, 2 girls) referred to a tertiary pediatric neuromuscular clinic for isolated elevated creatine kinase levels (range: 720-7000 IU/L) identified on initial assessment for otherwise unexplained transaminase elevations (n = 2), a social communication disorder (n = 3), and exertional myalgia and/or rhabdomyolysis (n = 1). There was no preceding family history of neuromuscular disease. One boy had an additional history of severe cerebral palsy and cyclical vomiting, and 1 girl had a history of maternal hepatitis C. There was no significant weakness at presentation, and the majority remained stable over a prolonged period of follow-up (age range at last follow-up: 9-16 years). All 6 children were found to carry dystrophin gene mutations resulting in milder phenotypes. This series highlights that dystrophinopathies may not uncommonly present with features distinct from the classic Duchenne muscular dystrophy and Becker muscular dystrophy phenotypes in both boys and girls. Pediatricians should be aware of such atypical presentations to initiate a timely and adequate diagnostic process. Establishing the correct genetic diagnosis of a dystrophinopathy is important to allow appropriate genetic counseling, to implement relevant surveillance and management strategies, and to avoid unnecessary investigations in search of an incorrect alternative diagnosis.
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PMID:Unusual Presentations of Dystrophinopathies in Childhood. 2961 Jan 82