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)

From 65 reported cases of medium chain acyl-CoA dehydrogenase deficiency, we found an average presenting age of 13.5 months and a mean age at death of 18.5 months. One quarter of patients died of a Reye-like syndrome and/or sudden infant death. In half the cases there had been at least one sibling death. Asymptomatic cases were not uncommon (12% of cases). The crises were generally induced by a prolonged fast and after a viral prodromal phase in three quarters of cases. The crises consisted of somnolence progressing to lethargy which could lead to coma. Vomiting was frequent (60% of cases). Seizures, which were found in 29% of cases, represented a bad prognosis. The physical examinations revealed frequently a variable and regressive anicteric hepatomegaly. Blood and urine analysis revealed in most instances hypoglycaemia (96% of cases) with hypoketonuria and sometimes metabolic acidosis. Hepatic and muscular cytolytic enzymes were frequently raised, as were plasma ammonia, urea, and uric acid. Plasma total or free carnitine concentrations, especially non-fasting, were diminished in most cases. Plasma saturated medium chain fatty acids and particularly unsaturated cis-4-decenoate were on the other hand raised during the crises or during fasting. Urinary organic acid analysis revealed a characteristic profile of medium chain aciduria: C6-C10 dicarboxylic acids, hydroxy acids, glycine conjugates, and carnitine conjugates. Oral loading tests with carnitine or phenylpropionate allow a precise diagnosis. The diagnosis is confirmed by specific assays in various tissues. Avoidance of prolonged fasting seems to be the mainstay of treatment.
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PMID:Medium chain acyl-CoA dehydrogenase deficiency. 173 32

Two male siblings presented in the first 6 weeks of life with emesis, diarrhoea, metabolic acidosis and lethargy. A male sibling had previously died at 14 months of age from liver failure of unknown aetiology. Both of the current cases had mild hyperammonaemia with normal orotic acid, organic acid and argininosuccinic acid levels. Citrulline and arginine levels were normal or mildly decreased. One of the brothers was biopsied and had no detectable N-acetylglutamate synthetase activity and normal values for other enzymes of the urea cycle in liver. Treatment with a low-protein diet and sodium benzoate/sodium phenylacetate resulted in near normal blood ammonia levels, except during viral illness. Subsequent neurological development has been normal to mildly delayed. These patients differ from those previously described with N-acetylglutamate synthetase deficiency in that their presentation and subsequent course were relatively benign.
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PMID:N-acetylglutamate synthetase deficiency: clinical and laboratory observations. 177 15

The National Cancer Institute of Canada Clinical Trials Group undertook a phase II study of 2'-deoxycoformycin in patients with metastatic renal cell carcinoma. When 2'-deoxycoformycin 4 mg/m2 was administered intravenously weekly for three weeks then every two weeks no significant antitumor activity was noted in 19 evaluable patients. Toxic effects experienced were as expected, consisting primarily of nausea/vomiting, anorexia, and lethargy. It is concluded that 2'-deoxycoformycin at this dose and schedule has no clinical activity in the treatment of metastatic renal cell carcinoma.
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PMID:Phase II study of 2'-deoxycoformycin in patients with renal cell carcinoma. A National Cancer Institute of Canada Clinical Trials Group study. 178 28

A case report of severe digitalis poisoning in a patient with prosthetic heart valve is presented. He complained of nausea, vomiting, drowsiness, temporal disorientation and lethargy. The electrocardiogram showed idioventricular rhythm, and plasma levels of digoxin were 6.78 ng/ml. Predisposing factors por digitalis poisoning were prerenal failure and concomitant quinidine therapy. Treatment with digoxin-immune antibody fragments (FAB) promptly lead to abolition of the ventricular arrhythmia and disappearance of every clinical symptoms in hours. Plasma digoxin levels showed a steep decrease until normal values at the fifth day. The favourable course of either clinical and electrocardiographic response to IV administration of FAB are discussed, stressing the fact of the high morbidity of digitalis poisoning in opposition to the relative safety of Fabs use in its therapy.
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PMID:[Severe poisoning with digitalis treated by the administration of anti-digoxin antibodies]. 178

A rare case of repeated intracerebral hematoma associated with an intracerebral fibrosarcoma is reported. A 43-year-old man was referred to our clinic with headache and vomiting of sudden onset. On admission, he was lethargic. CT revealed a huge intracerebral hematoma in the left temporal lobe with midline shift. Angiography failed to demonstrate any evidence of an intracranial tumor. An operation was performed under the diagnosis of an idiopathic cerebral hematoma. The postoperative course was uneventful and he was discharged without any deficits except for a left upper quadrant homonymous hemianopia. Four and a half months after the first operation, he was readmitted to our clinic with the same symptoms as he had at the first admission. Neuroradiological examination again revealed an intracerebral hematoma in the left temporal lobe. At operation, a pinkish-gray discolored mass at the hematoma wall was found. An intraoperative histological examination of the mass indicated a malignant tumor and the tumor was totally removed. However the patient did not recover from the severe neurological deficits and died 3 months after the second surgery. Histological examinations of the tumor demonstrated a typical fibrosarcoma. Intracerebral primary fibrosarcoma with hemorrhage is quite rare. In such a case with a large hematoma, the presence of a tumor may be obscured on CT scan and angiography. Detailed observation of the hematoma wall using an operating microscope should be performed to allow a correct diagnosis.
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PMID:[A case of primary fibrosarcoma caused by spontaneous intracerebral hematoma]. 185 59

Two infants with intussusception were presented with lethargy and vomiting. Initially, the classical abdominal manifestations of the disease were missing. In order to avoid a delay of the correct treatment, intussusception should be considered in infants with altered consciousness and ultrasonography of the abdomen should be included in the diagnostic work up.
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PMID:[Disorders of consciousness as an initial symptom of intestinal invagination]. 187 Jun 1

Deficiency of 3-hydroxy-3-methylglutaryl-CoA lyase has been studied in 11 Saudi infants. The diagnosis was established by the measurement of enzyme activity in lymphocytes, in fibroblasts and, in seven patients, by the gas chromatography/mass spectrometer pattern of excreted organic acids in the urine. In seven infants the disease caused a devastating acidotic attack within the first day of life, while in two the crisis occurred by the third day of life. In two infants from one family the disease appeared later in infancy. The clinical presentation of an acidotic attack is lethargy, hyperpnoea, tachypnoea and seizures, either at birth (two infants), following first feeding (in five infants), or following vomiting or refusal of food in later infancy. The acidotic attacks recurred later in life following minor illness or refusal to eat. The acidosis of this enzyme deficiency progresses rapidly, leading to cardiopulmonary arrest and death within hours of onset unless treated promptly. In four surviving infants diagnosed and treated early, development is normal. Magnetic resonance and computerized tomography brain scans in these infants, however, show white matter lesions and mild atrophy.
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PMID:3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia. 188 3

A retrospective review was performed to determine the diagnostic value of testing for occult blood in stool of children suspect for intussusception. Ninety-six children had barium enema studies for suspected intussusception. Of the 57 children who had barium enema confirmed intussusception, 29 did not have history or physical findings of gross blood per rectum. Stool was tested for occult blood in 16 of these 29 patients, and 12 (75%) were positive. In comparison, three (20%) of the children who did not have intussusception had stool positive for occult blood. Stool with occult blood was significantly associated with intussusception (P less than .002). The only other clinical factor significantly associated with intussusception was abdominal mass (P less than .02). Vomiting, episodic irritability, poor feeding, abdominal pain and lethargy were not significantly different in the two groups. In conclusion, the authors suggest stool testing for occult blood when evaluating children who present with nonspecific signs and symptoms supportive of intussusception.
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PMID:Intussusception and the diagnostic value of testing stool for occult blood. 198 40

A patient presented without symptoms 30 minutes after ingesting acetonitrile, also known as methylacyanide. He had prompt gastric lavage and activated charcoal administration. Hours later, the onset of clinical toxicity was heralded by mental status abnormalities and vomiting prior to a generalized seizure. Following administration of sodium thiosulfate, the patient made an uneventful recovery. A blood cyanide level drawn shortly after presentation, but reported after the patient had been discharged, documented significant exposure. During hospitalization, cyanide toxicity was inferred from the history of ingestion of acetonitrile, plus a significant absence of venous blood hemoglobin desaturation. Because even small amounts can be harmful and toxicity is delayed, all acetonitrile ingestions should be presumed dangerous. Patients should be observed and repeatedly evaluated for at least 24 hours. In the absence of cyanide level determinations, lethargy, vomiting, seizures, and the lack of normal venous blood hemoglobin desaturation are clues to cyanide toxicity.
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PMID:Cyanide toxicity from acetonitrile-containing false nail remover. 201 1

Nine dogs with intermediate- or high-grade lymphoma were prospectively entered into a protocol to be given a total of 15 weekly doses of doxorubicin (10 mg/m2 of body surface, IV) in an attempt to eliminate all clinical evidence of neoplasia, with minimal risk of drug toxicity. Eight of these dogs did not complete the protocol because of progression of the disease. The median number of doses administered to dogs that developed progressive disease before the regimen was completed was 5 (range, 2 to 9). Seven dogs achieved partial (n = 5) or complete (n = 2) remission, with median duration of 14 days (range, 7 to 231 days). The dog that was given all 15 weekly treatments remained in complete remission for 231 days. Complete remission that lasted for 14 days was observed in another dog. Toxicosis developed in 3 dogs; signs of toxicosis were generally mild and included colitis (n = 1), vomiting (n = 1), neutropenia (n = 1), and lethargy (n = 1). The lowest neutrophil count (1,876 cells/microliter) was seen in one dog after 7 doses of doxorubicin were given. Doxorubicin at dosage of 10 mg/m2/wk appears to be safe, but is generally ineffective for treatment of lymphoma.
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PMID:Weekly administration of low-dose doxorubicin for treatment of malignant lymphoma in dogs. 207 76


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