Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017160 (gastroenteritis)
 11,398 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cryptosporidium is an intracellular protozoa that can cause gastroenteritis in humans. In immunocompromised hosts, infection can be severe, leading to life-threatening persistent diarrhea. There is limited experience in treating this infection in solid organ transplants. Although newer drugs active against Cryptosporidium exist, they are only licensed in the USA for treatment of immunocompetent hosts. Here we describe a seven-year-old renal transplant recipient with severe cryptosporidiosis. He had a protracted course of diarrhea of up to 2 L/day. He was successfully managed with combination antimicrobial therapy including nitazoxanide, paromomycin, and azithromycin. In conjunction with this regimen, he had a reduction in immunosuppression and complete bowel rest. His stool pattern normalized in four weeks and he has had no recurrence after six months of follow up.
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PMID:Severe cryptosporidiosis in a seven-year-old renal transplant recipient: case report and review of the literature. 1723 30

Rotavirus can cause seizures and encephalopathy in infants and young children. We report reversible EEG abnormalities in a 2 year and 7 month old boy who had a single seizure during rotavirus gastroenteritis. His EEG showed bilateral independent temporoparietal sharp waves. The EEG was normal 10 days after the first EEG and the patient has been followed with no neurological sequelae. The EEG literature in children developing seizures secondary to rotavirus infection including ours suggest the involvement of mostly posterior cerebral areas. The localization and reversibility of the process can enlighten the pathophysiology underlying this disorder.
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PMID:Reversible EEG changes during rotavirus gastroenteritis. 1757 18

Rotavirus, the major pathogen of infantile gastroenteritis, carries a nonstructural protein, NSP2, essential for viroplasm formation and genome replication/packaging. In addition to RNA-binding and helix-destabilizing properties, NSP2 exhibits nucleoside triphosphatase activity. A conserved histidine (H225) functions as the catalytic residue for this enzymatic activity, and mutation of this residue abrogates genomic double-stranded RNA synthesis without affecting viroplasm formation. To understand the structural basis of the phosphatase activity of NSP2, we performed crystallographic analyses of native NSP2 and a functionally defective H225A mutant in the presence of nucleotides. These studies showed that nucleotides bind inside a cleft between the two domains of NSP2 in a region that exhibits structural similarity to ubiquitous cellular HIT (histidine triad) proteins. Only minor conformational alterations were observed in the cleft upon nucleotide binding and hydrolysis. This hydrolysis involved the formation of a stable phosphohistidine intermediate. These observations, reminiscent of cellular nucleoside diphosphate (NDP) kinases, prompted us to investigate whether NSP2 exhibits phosphoryl-transfer activity. Bioluminometric assay showed that NSP2 exhibits an NDP kinase-like activity that transfers the bound phosphate to NDPs. However, NSP2 is distinct from the highly conserved cellular NDP kinases in both its structure and catalytic mechanism, thus making NSP2 a potential target for antiviral drug design. With structural similarities to HIT proteins, which are not known to exhibit NDP kinase activity, NSP2 represents a unique example among structure-activity relationships. The newly observed phosphoryl-transfer activity of NSP2 may be utilized for homeostasis of nucleotide pools in viroplasms during genome replication.
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PMID:Crystallographic and biochemical analysis of rotavirus NSP2 with nucleotides reveals a nucleoside diphosphate kinase-like activity. 1780 96

Ornithine transcarbamylase deficiency is the commonest urea cycle disorder which is transmitted in X-linked inheritance. It is mainly characterized in males by acute encephalopathy and hyperammonaemia with fatal outcomes in both classical neonatal and late-onset types. We report a 3-year-old healthy Hong Kong Chinese boy who presented with acute encephalopathy and coma after three days of gastroenteritis. He had no focal neurological deficit and brain CT imaging was normal. His plasma ammonia (54 micromol/L) and glutamine (747 micromol/L) concentrations were normal. The only biochemical abnormalities detected were marked orotic aciduria (700 micromol/mmol creatinine) and elevated urinary uracil. He regained consciousness spontaneously after three days under intensive care with parenteral fluid therapy. He recovered completely without any neurological deficits. Five months after discharge, urinary uracil concentration remained elevated despite normalized orotic acid concentration. Finally, ornithine transcarbamylase deficiency was diagnosed by DNA analysis. A missense mutation of arginine-to-glutamine substitution on amino acid 277 (p.R277Q) was revealed to be a late-onset mutant. Our case strengthens the argument that in any child with coma or acute encephalopathy of undetermined cause, genetic analysis of the OTC gene and the measurement of urinary uracil concentration remain the most reliable indicators of late-onset OTCD during acute and even quiescent phases. Existing neonatal screening programmes for inheritable metabolic disorders fail to detect late-onset variants. Therefore, a high clinical suspicion is a key to correct and timely diagnosis, especially in those patients with atypical presentations.
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PMID:Complete recovery from acute encephalopathy of late-onset ornithine transcarbamylase deficiency in a 3-year-old boy. 1792 16

Salmonella is a foodborne pathogen causing severe gastroenteritis. Three types of Maillard reaction products (MRP) generated by heat sterilization of D-glucose and L-lysine, L-histidine, and L-arginine were studied at 2 different levels of supplementation (0.5% and 1.0%) for their influence on growth and virulence of Salmonella. Two methods, namely, real-time polymerase chain reaction (RT-PCR) and a beta-galactosidase gene fusion assay, were used to determine the expression of hilA, a regulatory gene for Salmonella pathogenicity. Neither the type of MRP nor their quantities up to 1.0% affected the growth rates of S. Typhimurium EE658 (P > 0.05). When determined by beta-galactosidase assay, lysine MRP in both levels of supplementation were not found to have any effect on the hilA expression compared to the control. The addition of histidine and arginine MRP to M9 media (0.5%) increased by 2-fold hilA induction and up to 6-fold at the higher level (1%) supplementation of these compounds. Although somewhat inconsistent, RT-PCR analyses of hilA expression confirmed the greater induction effect of arginine MRP on hilA compared to lysine MRP. In contrast to beta-galactosidase assay results, however, lysine MRP were found to increase hilA expression compared to the control in both supplementation levels in all trials. The potential of MRP serving as a bacterial virulence modulator may be a factor to be considered in food thermal processing when assessing Salmonella risk for causing foodborne disease.
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PMID:Effects of Maillard reaction products on hilA expression in Salmonella typhimurium. 1821 59

Central pontine myelinolysis and extrapontine myelinolysis are rare complications of rapid correction of chronic hyponatremia. Central pontine myelinolysis is more common and more predictable in presentation. Extrapontine myelinolysis' presenting symptoms vary and may be as general as lethargy or altered mood. We report experience with a patient who developed only extrapontine myelinolysis after rapid correction of severe hyponatremia associated with gastroenteritis. His presenting sign, generalized seizures, has not been previously reported. We summarize risk factors for myelinolysis, which may be more common than previously thought, as well as steps to minimize risk while managing vulnerable patients.
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PMID:Extrapontine myelinolysis after correction of hyponatremia presenting as generalized tonic seizures. 1937 39

An unusual case of malaria presented with gastroenteritis and bloody diarrhoea in a 46-year-old male. The patient was a non-Saudi resident of Makkah, Saudi Arabia. Fever was not the presenting complaint, and the patient had not experienced any chills or sweating. He gave history of recent travel to Pakistan. Initial laboratory investigations showed anemia, thrombocytopenia, normal liver function, and negative blood film for malaria. His widal, Brucella, and dengue serology was negative. Endoscopic examination showed gastroenteritis. On the fifth day of admission, a sexual form of Plasmodium falciparum on peripheral smear was reported by chance. Malaria was misdiagnosed because of initial negative blood film which may have been due to false microscopy or a long period between exposures and positive blood film. We concluded that a repeat blood film for malaria at 12- to 24-hour intervals for 48 to 72 hours is cost effective when a patient has recently travelled to an endemic area.
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PMID:Misdiagnosis of an imported case of malaria caused by Plasmodium falciparum. 1975 40

Branched-chain ketoacid dehydrogenase deficiency results in complex and volatile metabolic derangements that threaten brain development. Treatment for classical maple syrup urine disease (MSUD) should address this underlying physiology while also protecting children from nutrient deficiencies. Based on a 20-year experience managing 79 patients, we designed a study formula to (1) optimize transport of seven amino acids (Tyr, Trp, His, Met, Thr, Gln, Phe) that compete with branched-chain amino acids (BCAAs) for entry into the brain via a common transporter (LAT1), (2) compensate for episodic depletions of glutamine, glutamate, and alanine caused by reverse transamination, and (3) correct deficiencies of omega-3 essential fatty acids, zinc, and selenium widespread among MSUD patients. The formula was enriched with LAT1 amino acid substrates, glutamine, alanine, zinc, selenium, and alpha-linolenic acid (18:3n-3). Fifteen Old Order Mennonite children were started on study formula between birth and 34 months of age and seen at least monthly in the office. Amino acid levels were checked once weekly and more often during illnesses. All children grew and developed normally over a period of 14-33 months. Energy demand, leucine tolerance, and protein accretion were tightly linked during periods of normal growth. Rapid shifts to net protein degradation occurred during illnesses. At baseline, most LAT1 substrates varied inversely with plasma leucine, and their calculated rates of brain uptake were 20-68% below normal. Treatment with study formula increased plasma concentrations of LAT1 substrates and normalized their calculated uptakes into the nervous system. Red cell membrane omega-3 polyunsaturated fatty acids and serum zinc and selenium levels increased on study formula. However, selenium and docosahexaenoic acid (22:6n-3) levels remained below normal. During the study period, hospitalizations decreased from 0.35 to 0.14 per patient per year. There were 28 hospitalizations managed with MSUD hyperalimentation solution; 86% were precipitated by common infections, especially vomiting and gastroenteritis. The large majority of catabolic illnesses were managed successfully at home using 'sick-day' formula and frequent amino acid monitoring. We conclude that the study formula is safe and effective for the treatment of classical MSUD. In principle, dietary enrichment protects the brain against deficiency of amino acids used for protein accretion, neurotransmitter synthesis, and methyl group transfer. Although the pathophysiology of MSUD can be addressed through rational formula design, this does not replace the need for vigilant clinical monitoring, frequent measurement of the complete amino acid profile, and ongoing dietary adjustments that match nutritional intake to the metabolic demands of growth and illness.
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PMID:Classical maple syrup urine disease and brain development: principles of management and formula design. 2006 Nov 71

Cyclospora spp. which are coccidian parasites are rare gastroenteritis pathogens. The first cyclosporiasis case in Turkey was reported in 1998 in a patient with AIDS. In this paper we report a case of Cyclospora gastroenteritis, in a patient who was admitted to our hospital and who had had diarrhea, abdominal pain and nausea for ten days. In the anamnesis it was learned that he had travelled to the Black Sea region and had drunk muddy and cloudy water. His physical examination was normal except for increased bowel sounds. There were no leukocytes or erythrocytes in the direct microscopy of the stool and bacteriologic culture did not yield any enteropathogen. Cylospora oocyysts were seen in the parasitologic exmination. The patient was treated with cotrimaxasole (2x1,160/800 mg tablet). There was no pathogen in the repeated stool examination. Our case suggests that parasitologic examination should not be neglected in longlasting diarrhea cases and occasionally Cyclospora may be the causative agent.
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PMID:[A rare gastroenteritis pathogen: Cyclospora]. 2059 53

Coronavirus RNA synthesis is a sophisticated process performed by a viral multienzymatic replicase complex, together with cellular factors. A key enzyme of this replication complex is the RNA dependent RNA polymerase (RdRp). To study the replication of coronavirus genome, six monoclonal antibodies (mAbs) specific for transmissible gastroenteritis virus (TGEV) RdRp were generated and characterized. His-tagged RdRp was expressed in baculovirus, purified and used as immunogen to produce mAbs. The TGEV RdRp was recognized by these mAbs in the context of virus infection by immunofluorescence analysis and Western blot. Epitope mapping by Pepscan indicated that RdRp mAbs recognized four non-overlapping linear epitopes located in a 62-amino acid region of the N-terminal domain, suggesting that this region may constitute an immunodominant domain. The availability of TGEV RdRp mAbs will be instrumental to study coronavirus replication and to analyze the function of RdRp in pathogenesis.
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PMID:Immunogenic characterization and epitope mapping of transmissible gastroenteritis virus RNA dependent RNA polymerase. 2151 42


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