Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0243026 (sepsis)
 52,417 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In the USA, erythrocytic glutathione reductase (GSSG-R) deficiency is significantly more common, and can be considerably more pronounced in hospitalized patients (118/3198) than in outpatients (37/1639) or in apparently healthy persons (12/849). Retrospective analysis of illnesses found in 118 inpatients with erythrocytic GSSG-R deficiency revealed a striking and previously unsuspected association of the enzyme deficiency with a variety of chemotherapeutically treated hematological or nonhematological malignancies (51/118 patients, 43.2%, or 51/170 diagnoses, 30.0%). The prevalence of erythrocytic GSSG-R deficiency also increased in malnutrition, liver disease, and sepsis. Drugs of the nitrosourea class, particularly BCNU [1, 3-bis(2-chloroethyl)-1-nitrosourea] are causally implicated in the association of GSSG-R deficiency with malignancies. Severe of complete GSSG-R deficiency may handicap host response to infections.
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PMID:Erythrocytic glutathione reductase deficiency in a hospital population in the United States. 60 23

The operation of total pancreatectomy is performed rarely. Its role in the management of patients with chronic pancreatitis remains to be elucidated. We have reviewed our series of 29 total pancreatectomies for benign disease [14 women median age 39 years; 15 men median age 34 years]. Twelve underwent standard total pancreatectomy, in 17 duodenum preserving total pancreatectomy (DPTP) was performed. There was one death (mortality 3.4%). In no patient was the total pancreatectomy the first operative procedure. The patients were compared with age and sex matched diabetic control subjects selected on a best fit basis from the diabetic clinic database. The aetiology of the pancreatitis was idiopathic nine, pancreas divisum nine, alcohol eight and other causes three. The indication for surgery was pain 27, acute pancreatitis one and cholangitis with pancreatitis one. The complications of the procedures were mainly caused by infection [wound three, chest six and central line sepsis four] and in two there was a leak from the duodenum; no patient required re-operation. The postoperative stay [standard total, median 21 days (range 13-98) DPTP median 31 days (range 17-49)] has lengthened over the period due to greater attention to analgesic, diabetic and enzyme deficiency control before discharge. In standard total pancreatectomy there were five major hypoglycaemic episodes with only two in 17 DPTP patients. The per cent ideal body weight, the insulin requirement and the HbAl compared less well in standard total pancreatectomy group compared with controls than did DPTP. With both groups large doses of enzyme replacement were required, and this proved of importance in diabetic control. Our experience with total pancreatectomy suggests that pain will be improved in over 80% of patients and that the results of surgery will improve with prolonged follow up provided attention is given to analgesic abuse, enzyme deficiency and diabetes.
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PMID:Total pancreatectomy for chronic pancreatitis. 335 68

Hepatic tumors have been associated with oral contraceptive (OC) use. Klatkin's literature review of 1976 yielded a total of 237 cases of OC-associated hepatic tumors; 9% of these were considered malignant. This paper presents a case of liver cell adenoma which developed when a 34-year old patient was using OCs. Contraceptive use was discontinued and the lesion regressed, but a hepatocellular carcinoma developed 3 years later. The woman presented in 1976 complaining of acute right upper quadrant abdominal pain. A hemorrhagic hepatic tumor 16 cm in diameter was diagnosed after an exploratory laparotomy. The patient discontinued use of Ovulen 21 which she had been using for 5 years and was followed up with serial liver scans. The mass shrank to approximately 5 cm in diameter by January 1979 and remained stable until November 1979 when liver scan revealed that the tumor had reverted to its 16 cm size. In December 1979, a partial hepatectomy was done but it was complicated by a cardiac arrest. A postpericardiotomy syndrome developed after the operation. 5 weeks postoperatively, in January 1980, the patient suffered constrictive pericarditis and a pericardial stripping operation was done. The patient later died of sepsis with high output cardiac failure, shock, and adult respiratory distress syndrome. Ultrastructural studies of the tumor revealed a well-differentiated hepatocellular carcinoma. The features of the tumor (e.g., travecular growth, necrosis, hemorrhage) have been the criteria, in addition to vascular invasion and metastases, used to classify previously reported cases as malignant. Autopsy of the patient revealed no metastatic lesions. Cytoplasmic structures suggestive of a phospholipid disturbance were also observed and were thought to be related to drug interference with phospholipid metabolism. An interesting observation was the regression of the tumor after discontinuance of pill use. The mechanisms of its renewed growth and its malignant change remain unknown. Lesions such as this should be given a guarded prognosis even if the appearance is benign. Possible metabolic or enzyme deficiency in the few women in whom hepatic tumors develop is raised.
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PMID:Hepatocellular adenoma. Its transformation to carcinoma in a user of oral contraceptives. 626 14

Endoscopic retrograde cholangiopancreatography (ERCP), together with its substantial therapeutic capabilities, carries a higher potential for complications than other endoscopic procedures. Common major complications specific to pancreaticobiliary instrumentation include pancreatitis, post-sphincterotomy hemorrhage, perforation, and cholangitis with or without systemic sepsis. Two patients underwent therapeutic ERCP for recurrent episodes of abdominal pain and elevation of hepatobiliary enzymes. Endoscopic sphincterotomy was difficult and prolonged. The calculi were successfully extracted by sweeping the choledochus with a balloon-tipped catheter or basket in both cases. The patients experienced postprocedure diffuse abdominal pain unassociated with nausea or vomiting. Laboratory data showed normal serum amylase and lipase 2, 6, and 18 h after the end of procedure, a fall in hematocrit level, and an increase of indirect bilirubin and lactic dehydrogenase. The abdominal pain subsided in 4 to 6 h. The hematocrit level remained stable during the next 3 days, and the patients were very well when discharged. Examination of glucose-6-phosphate dehydrogenase (G-6PD) enzyme levels in red cells 20 days later showed complete enzyme deficiency. This report highlights the importance of examining G-6PD deficiency in patients with post-ERCP abdominal pain, normal serum amylase and lipase, and laboratory findings of hemolysis.
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PMID:Hemolysis caused by G-6PD deficiency after a difficult and prolonged therapeutic endoscopic retrograde cholangiopancreatography. 1272 87

Cyanosis is a physical finding that can occur at any age but presents the greatest challenge when it occurs in the newborn. The cause is multiple, and it usually represents an ominous sign, especially when it occurs in association with neonatal sepsis, cyanotic congenital heart disease, and airway abnormalities. Cyanosis caused by abnormal forms of hemoglobin can also be life-threatening, and early recognition is mandatory to prevent unnecessary investigations and delay in management. Abnormal hemoglobin, such as hemoglobin M, is traditionally discovered by electrophoresis, so the newborn screen, which is mandatory in several states, is a useful tool for the diagnosis. Although acquired methemoglobinemia, caused by environmental oxidizing agents, is common, congenital deficiency of the innate reducing enzyme is so rare that only a few cases are documented in the medical literature around the world. We present a neonate with cyanosis as a result of congenital deficiency of the reduced nicotinamide adenine dinucleotide-cytochrome b5 reductase enzyme. This infant was found to be blue at a routine newborn follow-up visit. Sepsis, structural congenital heart disease, prenatal administration, and ingestion of oxidant dyes were excluded as a cause of the cyanosis by history and appropriate tests. Chocolate discoloration of arterial blood provided a clue to the diagnosis. A normal newborn screen and hemoglobin electrophoresis made the diagnosis of hemoglobin M unlikely as the cause of the methemoglobinemia (Hb A 59.4%, A2 1.8%, and F 38.8%). Red blood cell enzyme activity and DNA analysis revealed a homozygous form of the cytochrome b5 reductase enzyme deficiency. He responded very well to daily methylene blue and ascorbic acid administration, and he has normal growth and developmental parameters, although he shows an exaggerated increase in his methemoglobin level with minor oxidant stress such as diarrhea.
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PMID:Congenital methemoglobinemia: a rare cause of cyanosis in the newborn--a case report. 1289 22

The adequacy range of dietary requirements of specific amino acids in disease states is difficult to determine. In health, several techniques are available allowing rather precise quantification of requirements based on growth of the organism, rises in plasma concentration, or increases in the oxidation of marker amino acids during incremental administration of the amino acid under study. Requirements may not be similar in disease with regard to protein synthesis or with regard to specific functions such as scavenging of reactive oxygen species by compounds including glutathione. Requirements for this purpose can be assessed only when such a function can be measured and related to clinical outcome. There is apparent consensus concerning normal sulfur amino acid (SAA) requirements. WHO recommendations amount to 13 mg/kg per 24 h in healthy adults. This amount is roughly doubled in artificial nutrition regimens. In disease or after trauma, requirements may be altered for methionine, cysteine, and taurine. Although in specific cases of congenital enzyme deficiency, prematurity, or diminished liver function, hypermethionemia or hyperhomocysteinemia may occur, SAA supplementation can be considered safe in amounts exceeding 2-3 times the minimal recommended daily intake. Apart from some very specific indications (e.g., acetaminophen poisoning), the usefulness of SAA supplementation is not yet established. There is a growing body of data pointing out the potential importance of oxidative stress and resulting changes in redox state in numerous diseases including sepsis, chronic inflammation, cancer, AIDS/HIV, and aging. These observations warrant continued attention for the potential role of SAA supplementation. In particular, N-acetylcysteine remains promising for these conditions.
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PMID:Adequate range for sulfur-containing amino acids and biomarkers for their excess: lessons from enteral and parenteral nutrition. 1670 41

Introduction: Neonatal sepsis is a serious disease with distinct clinical and laboratory findings. G6PD deficiency is known as the most common human erythrocyte-enzyme deficiency. This study was designed to investigate the relationship between G6PD deficiency and neonatal sepsis, since it is a major cause of neonatal morbidity and mortality. Methods: A cross-sectional case-control study was designed and performed on 50 neonates who had been admitted to the neonatal intensive-care unit and diagnosed with sepsis and 50 normal neonate controls. Quantitative G6PD-enzyme activity was assessed in the case and control groups. Results: Quantitative G6PD-level assessment showed that five (5%) subjects in the case group vs one (1%) of the control group were severely deficient and nine (9%) cases vs one (1%) control were moderately deficient. Enzyme-level differences were statistically significant (P=0.003). Conclusion: Our study showed higher incidence of G6PD deficiency in neonates who had been admitted due to sepsis. We suggest quantitative G6PD-level assessment instead of the routine qualitative methods in prevalent G6PD deficiency. It is also recommended that neonates with G6PD deficiency be under close supervision during the first month of life, especially those with other risks of neonatal sepsis, such as prematurity or low birth weight.
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PMID:Relationship of glucose-6-phosphate dehydrogenase deficiency and neonatal sepsis: a single-center investigation on the major cause of neonatal morbidity and mortality. 3111 23