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)

Recent advances in immunologic techniques have lead to increased recognition of primary immunodeficiencies. A review of patients with suspected immunodeficiencies in a Taiwan tertiary hospital from January 1985 to October 2004 and molecular/genetic analyses done on some patients were investigated. Of the 403 patients selected based on the International Classification of Disease, Ninth Revision, 37 patients with PID (8 females and 29 males) were identified: 17 (46%) with antibody production deficiencies, nine (24%) with defective phagocyte function, four (11%) with combined B and T cell immunodeficiencies, seven (19%) with T cell deficiencies, but none with primary complement deficiencies. Those with secondary immunodeficiencies were excluded from the study. Recurrent sinopulmonary infections (62%) were the most common clinical manifestation, followed by sepsis (57%), severe skin infection (40%), splenomegaly/hepatomegaly (27%), central nervous system dysfunction (22%), chronic diarrhea (22%), and failure to thrive (19%). Seven (19%) patients died, five of infections, one of disseminated intravascular coagulopathy and one of hepatocellular carcinoma. Six novel mutations were found from 11 agreed patients. This is the first report on primary immunodeficiencies in Taiwan covering a 20-year period.
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PMID:Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period. 1582 93

Classic galactosemia is an autosomal recessive disorder that is caused by activity deficiency of the UDP-galactose uridyl transferase (GALT). The clinical spectrum of classic galactosemia differs according to the type and number of mutations in the GALT gene. Short-term clinical symptoms such as jaundice, hepatomegaly, splenomegaly and E. coli sepsis are typically associated with classic galactosemia. These symptoms are often severe but quickly ameliorate with dietary restriction of galactose. However, long-term symptoms such as mental retardation and primary ovarian failure do not resolve irrespective of dietary intervention or the period of initial dietary intervention. There seem to be an association between deficient galactosylation of cerebrosides and classic galactosemia. Galactocerebrosides and glucocerebrosides are the primary products of the enzyme UDP-galactose:cerebroside galactosyl transferase (CGT). There has been an observation of deficient galactosylation coupled with over glucosylation in the brain tissue specimens sampled from deceased classic galactosemia patients. The plausible mechanism with which the association between GALT and CGT had not been explained before. Yet, UDP-galactose serves as the product of GALT as well as a substrate for CGT. In classic galactosemia, there is a consistent deficiency in cerebroside galactosylation. We postulate that the molecular link between defective GALT enzyme, which result in classic galactosemia; and the cerebroside galactosyl transferase, which is responsible for galactosylation of cerebrosides is dependent on the cellular concentrations of UDP-galactose. We further hypothesize that a threshold concentration of UDP-galactose exist below which the integrity of cerebroside galactosylation suffers.
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PMID:The molecular relationship between deficient UDP-galactose uridyl transferase (GALT) and ceramide galactosyltransferase (CGT) enzyme function: a possible cause for poor long-term prognosis in classic galactosemia. 1612 33

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell disorder characterized by hemolytic anemia, hemoglobinuria, bone marrow failure, and hypercoagulability. Thrombosis is the leading cause of mortality and occurs in one-half of PNH patients, with the hepatic veins being the most common site. Patients with hepatic vein thrombosis (Budd-Chiari syndrome) can present with abdominal pain, hepatomegaly, jaundice, and ascites. Prognosis is poor for these patients; death may occur from liver failure, vessel rupture, intestinal ischemia, infarction, necrosis, or sepsis. The authors report three consecutive cases of successful treatment with catheter-directed thrombolysis and thrombectomy directly in the hepatic veins in patients with PNH who developed acute hepatic vein thrombosis. This treatment represents a potential bridge toward more curative therapies such as allogeneic bone marrow transplant.
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PMID:Catheter-directed thrombolysis and thrombectomy for the Budd-Chiari syndrome in paroxysmal nocturnal hemoglobinuria in three patients. 1651 88

We report Mycobacterium fortuitum (M. fortuitum) catheter-related sepsis in a five-year-old boy with acute lymphoblastic leukaemia (ALL). This is the first reported case of M. fortuitum infection seen in our paediatric oncology patients. The patient was in haematological remission and receiving maintenance chemotherapy via an indwelling central venous catheter (Port-a-Cath). He was febrile, toxic-looking and was in respiratory distress. Clinically, he had a right pleural effusion and gross hepatomegaly. The patient was lymphopaenic and had deranged liver function test. Repeat paired blood cultures were positive for M. fortuitum. The catheter was promptly removed and he was treated aggressively with intravenous amikacin, cefoxitin, ciprofloxacin, trimethoprim-sulfamethoxazole and oral clarithromycin, with good clinical response. The patient remained well without further complications while on chemotherapy. M. fortuitum is an uncommon cause of catheter-related infection in patients with malignancies. Removal of an infected catheter is necessary for complete control of atypical mycobacterial infection in an immunosuppressed patient.
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PMID:Mycobacterium fortuitum catheter-related sepsis in acute leukaemia. 1675 25

Mortality has been reported to complicate gastric bypass, with common causes of death attributable to anastomotic leaks, sepsis, hemorrhage, and bowel obstruction. We evaluated autopsy reports from 10 patients having undergone gastric bypass. Medical records were reviewed to identify comorbidities. Data of interest included preoperative electrocardiogram (EKG) abnormalities, cause of death, body weight, anastamosis appearance, heart weight, extent of coronary artery disease, ventricular size, liver weight, and gall bladder status. A total of 7 men and 3 women were autopsied. Average age was 40 years (range, 30-49 years), and mean body mass index at autopsy was 60.3 kg/m(2) (range, 33.2-80.9 kg/m(2)). Evidence of anastomotic leaks was present in 7 cases, resulting in 4 deaths. Death was attributed to pulmonary embolism in one case. There were 5 cardiac-related deaths, all attributed to arrhythmias. Microscopic evidence of coronary artery disease was observed in 6. Cardiomegaly was seen in all patients, left ventricular hypertrophy in 8, right ventricular hypertrophy in 3, and hepatomegaly in all 10. Nine patients were status post cholecystectomy. Of the 8 preoperative EKG available, abnormalities were identified in 5. After gastric bypass, death was attributed to cardiac-related causes, pulmonary embolism, and operative complications. A significant proportion of cardiac-related deaths occured in the absence of atherosclerosis. Most patients had preoperative EKG abnormalities. As a high incidence of cardiomegaly was observed, operative stress associated with the procedure may increase the risk of arrhythmia in morbid obesity. Consequently, in morbidly obese patients, a detailed preoperative cardiovascular evaluation is warranted to reduce postoperative mortality.
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PMID:Postmortem findings in morbidly obese individuals dying after gastric bypass procedures. 1723 34

Haemobilia is a rare cause of acute upper gastrointestinal bleeding and is often associated with a history of hepatic or biliary tract injury, tumor growth, hepatic artery aneurysm, cholecystitis, or hepatic abscess. We report a case of a 79-year-old women with haemobilia due to acenocoumarol overdosage. She has been, taking 12 mg acenocoumarol by mistake for 5 days before admission because of atrial fibrillation. INR was 20 during an admission. Ultrasonographic evaluation demonstrated hepatomegaly, cholelithiasis, thick sludge in gallbladder represented blood clots and also dilated biliary tract. Cholecystectomy was carried out. The cut section of gall bladder showed stone, haemolysed blood and blood clots. Choledochotomy showed only blood clots within the duct. The treatment lasted long period and patient died because of multiorgan insufficiency in the course of sepsis.
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PMID:[Haemobilia in the course of acenocoumarol overdosage in patient with cholelithiasis--case report]. 1772 96

A 5-year-old black male with sickle beta degrees -thalassemia presented with fever and a vaso-occlusive crisis. Within hours, he developed progressive hepatomegaly with an acute drop in the hemoglobin level that was refractory to repeated red blood cell transfusion. His condition deteriorated and eventually he succumbed to cardiorespiratory failure related to sepsis. Blood cultures grew Streptococcus pneumoniae. To the best of our knowledge, this is the first reported case of hepatic sequestration in a young child and the first reported in a patient with sickle beta degrees -thalassemia. We describe here the clinicohematologic and pathologic features of this case consistent with acute hepatic sequestration and present a review of the relevant literature.
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PMID:Acute hepatic sequestration associated with pneumococcal infection in a 5-year-old Boy with sickle beta degrees -thalassemia: a case report and review of the literature. 1792 56

A 3.4-kg, 6-day-old infant presented to the pediatric intensive care unit with a 2-day history of poor feeding and tachypnea. Care at an outside hospital included endotracheal intubation, the administration of isotonic fluid (20 mL/kg), and antibiotics (ampicillin and gentamicin) for presumed sepsis. After arrival at our institution, physical examination revealed absent femoral pulses and hepatomegaly. Cerebral oximetry revealed a right-sided reading of 51% and a left-sided reading of 15%. Given the diminished femoral pulses and the disparity in the cerebral oximetry values, a tentative diagnosis of congenital heart disease with an obstructive left-sided lesion was entertained, and a prostaglandin E1 infusion was started at 0.05 microg/kg/min. The diagnosis of a type C interrupted aortic arch and a ventricular septal defect was confirmed by echocardiography. After stabilization and correction of metabolic abnormalities, the infant was taken to the operating room for repair of the interrupted aortic arch and placement of a pulmonary artery band.
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PMID:Cerebral oximetry using near-infrared spectroscopy aids in the diagnosis of interrupted aortic arch. 1870 27

Sepsis is a leading cause of mortality for neonates in developing countries; however, little research has focused on clinical predictors of nosocomial infection of preterm neonates in the low-resource setting. We sought to validate the only existing feasible score introduced by Singh et al. in 2003 and to create an improved score. In a secondary analysis of daily evaluations of 497 neonates <or=33 weeks gestational age admitted to a tertiary care NICU in Dhaka, Bangladesh, we tested the Singh score and then constructed and internally validated our own bedside predictive score. The Singh score had low sensitivity of 56.6% but good positive predictive value (PPV) of 78.1% in our sample. Our five-sign model requiring at least one clinical sign of infection (apnea, hepatomegaly, jaundice, lethargy and pallor) had an area under the receiver operating characteristic of 0.70, sensitivity of 77.1%, and PPV of 64.9%. Our clinical sepsis score is the first bedside clinical screen exclusively for hospitalized, very premature neonates in a low-resource setting, and warrants external validation.
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PMID:Nosocomial sepsis risk score for preterm infants in low-resource settings. 1962 12

Wide spectrum of infectious causes should be considered while diagnosing febrile states in infants.The aim of study is to present the case of 3-month-old infant with febrile states. Boy was admitted to Department of Pediatrics to Infant Unit because of the febrile states lasting for 4 weeks. Perinatal history: first pregnancy, cesarean section in 39 weeks of gestation due to mother's pointed condyloma, birth weight 3140 g, Apgar score 10 in first minute. There was no information about the course of pregnancy, mother's diseases, father was unknown. The child was ambulatory cured with several antibiotics because of the respiratory tract infections. On admission to hospital the general status of the infant was quite good, there was respiratory tract infection, hepatomegaly, and aphthae found in physical examination. Increased levels of inflammation markers and elevated activity of liver enzymes were observed in laboratory tests. Perihilar inflammatory density was found in chest radiogram. After finishing pharmacological treatment there were no pathological changes on auscultation of the lungs. The hospital course was complicated with Rotaviral infection. As the febrile states and hyperactivity of liver enzymes persisted, the diagnostics was extended. There was sepsis, neuroinfection, number of bacterial and viral infections excluded. There was also urine collected for the levels of catecholamines, the result was normal. Due to reverse proportion of the CD4 and CD8 lymphocytes, persistent active CMV infection and clinical status of the child, HIV test was performed. There was confirmed presence of p24 antigen of HIV in immunological test. The child was transfered to Child's Infectious Diseases Unit of Stefan Zeromski Hospital in Cracow to verify the result of laboratory test and start therapy.
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PMID:[Difficulties in diagnosing febrile states in 3-month-old infant]. 2050 67


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