Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019158 (hepatitis)
 30,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Case report of a 17-year-old man with acute bridging hepatitis in whom laparoscopy was followed by subcuteneous emphysema, penumomediastinum and pneumopericardium. No previous report has been published on pneumopericardium as a complication of laparoscopy.
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PMID:An unusual complication of laparoscopy: pneumopericardium. 644 43

A 47-year-old patient with panlobular emphysema and insulin-dependent diabetes had an alpha-1-antitrypsin phenotype Pi ZZ deficiency. Liver function tests were abnormal, and postmortem examination of the liver demonstrated abnormal intrahepatocytic globules of A1AT (a typical finding when the allele Z is present), but also fibrosis with steatosis. The patient's sister, Pi ZZ, had neither diabetes nor bronchopneumopathy, and no anomalies in liver function. Needle puncture biopsy of the liver had not been conducted. The phenotype Pi ZZ is typically associated with panlobular emphysema in adults, and cholestatic hepatitis in children. From reports in the published literature, it appears that isolated hepatic lesions or those associated with emphysema are rare. The fortuitous association of diabetes and hepatic lesions in this typical case of pulmonary affection in an adult is discussed.
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PMID:[Pulmonary emphysema, hepatic lesions, and insulin-dependent diabetes in a patient with alpha-1-antitrypsin (Pi ZZ) deficiency (author's transl)]. 697 May 36

The purpose of this clinical study was to demonstrate the usefulness of routine intraoperative cholangiography (IOC) and the safety of laparoscopic cholecystectomies (LC) in a community hospital. There were no ductal injuries and perioperative complications were extremely low. Patients (n = 236) with symptomatic gallstone disease, acalculus cholecystitis, or gallbladder polyps underwent LC from March 1991 to June 1993. During this period two patients were not considered appropriate candidates for this procedure. There were 172 women and 64 men ranging in age from 15 to 84 years. Four had preoperative endoscopic retrograde cholangiopancreatographies (ERCPs) for suspected choledocholithiasis. Elective LC was performed on 194 patients and emergency LC on 42 patients. The average operating time for elective LCs was 89 min and 97 min for emergency LCs. Thirty-six percent of patients had previous abdominal or pelvic surgery. IOC was attempted in 99% of patients and successful in 89%. Five percent had choledocholithiasis. Laparoscopic duct exploration was performed on four patients. Six patients had postoperative ERCP with stone extraction. Three percent of elective patients had additional surgery. One patient had LC during pregnancy (17 weeks), with a normal recovery and successful outcome of the pregnancy. Six elective and four emergency patients were converted to open cholecystectomy, a conversion rate of 4%. There were no ductal or vascular injuries, intraoperative haemorrhages or deaths. There were one small bowel laceration (0.4%). Postoperative complications included seven wound infections (3%), four bile leaks (2%), three trocar site haemorrhages (1%), one intraabdominal haemorrhage (0.4%), one suspected halothane hepatitis (0.4%), one drug-induced cholestatic jaundice (0.4%), and one subcutaneous emphysema (0.4%).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Laparoscopic cholecystectomy: a continuing plea for routine cholangiography. 773 40

The clinical and laboratory characteristics of 201 cases of measles and its associations with complications were analyzed during an outbreak of this disease in Mexico City. The complications were hepatitis (45%), bacterial pneumonia (17%), oral candidiasis (13%), upper gastrointestinal tract hemorrhage (13%), epistaxis (8%), encephalitis (4%), subcutaneous emphysema (2%), and hypocalcemic tetany (1%). In a subgroup of 20 consecutive patients hypocalcemia was found in 14 cases (70%), associated with high levels of calcitonin in three cases. An increased lactate dehydrogenase (LDH) was observed in 83% of the patients, showing a significant association with the occurrence of complications (p = 0.04) especially in the patients with values of LDH above 750 IU/mL (odds ratio of 6.4). Two patients died (1% mortality). The young patients with measles can develop serious complications, and an increased level of LDH may be a prognostic indicative of these complications.
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PMID:[Measles in the young adult. Clinical features of 201 cases]. 805 46

Alpha-1-antitrypsin is a glycoprotein which inactivates proteolytic enzymes, especially neutrophil elastase. Infants deficient in this enzyme commonly develop neonatal hepatitis. In adults, the deficiency typically results in emphysema. Only rarely will an adult manifest liver disease. We present a case of adult liver cirrhosis due to Alpha-1-antitrypsin deficiency in a 63-year-old man. Manifestations of alpha-1-antitrypsin deficiency and liver disease are discussed.
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PMID:Alpha-1-antitrypsin deficiency: rare cause of adult cirrhosis--a case report. 842 51

The deficiency of alpha 1-antitrypsin, a strong protease inhibitor, is known to cause pulmonary emphysema, neonatal hepatitis and liver cirrhosis. Among 75 variants reported so far, amino acid or DNA variations have been determined in about 30 variants. Many are caused by single base substitutions which then cause single amino acid replacements. In most of the null variants, base substitutions, base deletions or base insertions make stop codons appear somewhere beyond the mutation sites, which cause truncated proteins. Only several variants, including PiZ and PiMmalton, characterized as having cytoplasmic globules in hepatocytes, cause liver diseases. Recent analyses on the tertiary structure of alpha 1-antitrypsin have elucidated the mechanism of the formation of insoluble polymers in PiZ patients. The accumulation theory seems more relevant to the mechanism of the liver damage than the protease-antiprotease imbalance theory.
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PMID:[Genetic analyses of alpha 1-antitrypsin deficiency]. 846 63

Alpha 1 antitrypsin deficiency (AT) is an autosomal recessive disease associated with chronic liver disease in adults and children and emphysema in adults. The disease is one of the most common inherited disorders of the Caucasian population of North Europe and North America and is the most common genetic reason for pediatric orthotopic liver transplantation (OLTx), although it is a rare indication in adults. The natural history of the disease is unpredictable and the pathogenesis of the liver injury unclear. Thirty-five patients with histologically apparent alpha 1 AT accumulation in the liver (22 adults, 13 children) have been transplanted in this center. Clinical features were correlated with the pretransplant phenotype, serum alpha 1 antitrypsin levels and potential precipitating factors. All children were PiZZ homozygotes, most of whom had presented with neonatal hepatitis. The majority of adult patients were heterozygotes presenting with portal hypertension and liver cirrhosis. Current one-year posttransplant survival figures are 73% for adults and 87.5% for children. Replacement of the cirrhotic liver results in acquisition of the donor phenotype, a rise in serum levels of alpha 1 antitrypsin, and apparent prevention of associated disease.
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PMID:Transplantation for end stage liver disease related to alpha 1 antitrypsin. 863 77

Patients with alpha1-antitrypsin (alpha1-AT) deficiency are at risk of developing early-onset panlobular basal emphysema, which has been attributed to uncontrolled proteolytic activity within the lung. Severe genetic deficiency of alpha1-AT is most commonly due to the Z mutation (342Glu--> Lys), which results in a block in alpha1-AT processing within the endoplasmic reticulum of hepatocytes. The retained alpha1-AT forms inclusions, which are associated with neonatal hepatitis, juvenile cirrhosis, and hepatocellular carcinoma. Our recent studies have shown that the accumulation of alpha1-AT is due to the Z mutation perturbing the structure of alpha1-AT to allow polymer formation, with a unique linkage between the reactive center loop of one alpha1-AT molecule and the A beta-pleated sheet of a second. The detection of loop-sheet polymers and other conformations of alpha1-AT in the lungs of patients with emphysema has been technically difficult. We show here that transverse urea-gradient-gel (TUG) electrophoresis and Western blot analysis may be used to characterize conformations of alpha1-AT in dilute samples of bronchoalveolar lavage fluid (BALF). This technique was used to demonstrate loop-sheet polymers in the lungs of patients with Z alpha1-AT-deficiency-related emphysema. Polymers were the predominant conformational form of alpha1-AT in BALF from the lungs of two of five Z homozygotes with emphysema, but were not detectable in any of 13 MM, MS, or MZ alpha1-AT controls. Because alpha1-AT loop-sheet polymers are inactive as proteinase inhibitors, this novel conformational transition will further reduce the levels of functional proteinase inhibitor in the lungs of the Z alpha1-AT homozygote, and so exacerbate tissue damage.
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PMID:Lung polymers in Z alpha1-antitrypsin deficiency-related emphysema. 956 37

Alpha1-antitrypsin (alpha1AT) deficiency is an autosomal recessive disorder that can cause pulmonary emphysema and liver disease. We report here the case of a 59-year-old woman who was admitted to hospital for evaluation of jaundice. She had no history of hepatitis or childhood liver disease. She had never received a blood transfusion, nor had she abused drugs or alcohol. Transjugular liver biopsy was then performed and revealed a micronodular cirrhosis. Ten months later, because of persistent liver cell failure and ascites, she underwent an orthotopic liver transplantation. Investigation of alpha1AT system in the proband revealed a substantial decrease in serum alpha1AT associated with a low elastase inhibitory capacity. The Pi phenotype revealed a PiM-like profile. Sequencing of exons 1-5 demonstrated the presence of the M3 allele. Moreover, a triple nucleotide deletion was detected in exon 2 of one allele. This caused an "in-phase" frameshift, coding for a protein deficient in a single Phe residue, which corresponded to the Mmalton variant. After liver biopsy, periodic acid-Schiff-positive acidophilic bodies resistant to diastase digestion were observed in the cytoplasm of hepatocytes. These results demonstrated that our patient had a heterozygous M3Mmalton alpha1AT genotype related to a deficiency phenotype. This observation is the first of a patient with heterozygous Mmalton genotype associated with an alpha1AT deficiency that induced severe liver disease requiring orthotopic liver transplantation.
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PMID:Heterozygous M3Mmalton alpha1-antitrypsin deficiency associated with end-stage liver disease: case report and review. 1146 49

alpha(1)-Antitrypsin is a member of the serine proteinase inhibitor (serpin) superfamily and a potent inhibitor of neutrophil elastase. The most important deficiency variant of alpha(1)-antitrypsin arises from the Z mutation (Glu342Lys). This mutation perturbs the protein's tertiary structure to promote a precise, sequential intermolecular linkage that results in polymer formation. These polymers accumulate within the endoplasmic reticulum of the hepatocyte forming inclusion bodies that are associated with neonatal hepatitis, juvenile cirrhosis and adult hepatocellular carcinoma. The resultant secretory defect leads to plasma deficiency of alpha(1)-antitrypsin. This exposes lung tissue to uncontrolled proteolytic attack from neutrophil elastase, culminating in alveolar destruction. Thus, the Z alpha(1)-antitrypsin homozygote is predisposed to developing early onset basal, panacinar emphysema. In this review, we summarise the current understanding of the pathobiology of alpha(1)-antitrypsin deficiency and the associated liver cirrhosis and emphysema. We show how this knowledge has led to the development of novel therapeutic approaches to treat this condition.
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PMID:Alpha(1)-antitrypsin deficiency, liver disease and emphysema. 1267 69


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