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Case of hepatocellular carcinoma in a patient with hereditary tyrosinemia in the post-newborn screening era

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World Journal of Hepatology 2017年第9期9卷 487-490页

作者： Essam M Imseis John S Bynon Chad Thornhill Department of Pediatrics Gastroenterology Divisionthe University of Texas Health Science Center at HoustonHouston McG overn Medical School Department of Surgery the University of Texas Health Science Center at Houston Mc Govern Medical School

Hereditary tyrosinemia type 1(HT-1) is a metabolic disorder caused by a defect in tyrosine degradation. Without treatment, symptoms of hepatomegaly, renal tubular dysfunction, growth failure, neurologic crises resembling porphyrias, rickets and possible hepatocellular carcinoma can develop. The use of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione and early diagnosis through newborn screening initiatives have resulted in a sharp decline in morbidity and mortality associated with this disease. We present a case report of a 7-year-old patient with HT-1 who was born prior to the addition of tyrosinemia to the newborn screening in her birth area. At her time of diagnosis, the patient had developed many of the symptoms associated with her disease, including chronic kidney disease, rickets, and myopathy that left her non-ambulatory. During her initial evaluation, she was also noted to have hepatocellular carcinoma. With cadaveric liver transplantation and nutritional support, her symptoms all either resolved or stabilized. Her case il ustrates the severity of the disease if left untreated, the need for vigilance in populations who do not routinely receive newborn screens, and the markedly improved outcomes in patients following transplant.

关键词： tyrosinemia Screening Hepatocellular carcinoma Liver transplantation

An Unusual and Previously Unreported Association between tyrosinemia Type 1 and an Extremely Rare Variation of Congenital Cystic Dilatation: TODANI’s VI Cystic Duct Cyst: Report of a Case

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Journal of Biosciences and Medicines 2016年第12期4卷 126-131页

作者： Laila Essabar Hajar Rghouda Saloua Dahri Layachi Chabraoui Latifa Chat Yamna Kriouile Departement of General Pediatric II-Pediatric Neurology Unit Rabat Children’s Hospital Rabat Morocco Central Laboratory of Clinical Biochemistry Hospital Ibn Sina Rabat Morocco Departement of Pediatric Radiology Rabat Children’s Hospital Rabat Morocco

Cystic duct cysts are rare lesions, and type VI of TODANI’s modified classification is the rarest subtype with only sporadic case reports in the literature. The following report describes the coexistence of this entity and type 1 tyrosinemia in a one month-old infant referred to our department for etiological investigations of prolonged neonatal cholestasis. To the best of our knowledge, we report herein the first case in the literature describing this association. Cystic duct abnormalities should be considered in the differential diagnosis of neonatal cholestases, however further investigations should be performed to exclude associated life-threatening conditions such as metabolic disorders including tyrosinemia.

关键词： Cystic Duct Choledochal Cyst tyrosinemia Cholestasis NTBC Neonate

Tyrosine aminotransferase: biochemical and structural properties and molecular dynamics simulations

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Protein & Cell 2010年第11期1卷 1023-1032页

作者： Prajwalini Mehere Qian Han Justin A.Lemkul Christopher J.Vavricka Howard Robinson David R.Bevan Jianyong Li Department of Biochemistry Virginia TechBlacksburgVA 24061USA CAS Key Laboratory of Pathogenic Microbiology and Immunology Institute of MicrobiologyChinese Academy of SciencesBeijing 100101China Biology Department Brookhaven National LaboratoryUptonNY 11973USA

Tyrosine aminotransferase(TAT)catalyzes the transamination of tyrosine and other aromatic amino *** enzyme is thought to play a role in tyrosinemia type II,hepatitis and hepatic carcinoma *** objective of this study is to investigate its biochemical and structural characteristics and substrate specificity in order to provide insight regarding its involvement in these *** TAT(mTAT)was cloned from a mouse cDNA library,and its recombinant protein was produced using Escherichia coli cells and purified using various chromatographic *** recombinant mTAT is able to catalyze the transamination of tyrosine usingα-ketoglutaric acid as an amino group acceptor at neutral *** enzyme also can use glutamate and phenylalanine as amino group donors and p-hydroxyphenylpyruvate,phenylpyruvate and alpha-ketocaproic acid as amino group *** macromolecular crystallography we have determined the mTAT crystal structure at 2.9Å*** crystal structure revealed the interaction between the pyridoxal-5′-phosphate cofactor and the enzyme,as well as the formation of a disulphide *** detection of disulphide bond provides some rational explanation regarding previously observed TAT inactivation under oxidative conditions and reactivation of the inactive TAT in the presence of a reducing *** dynamics simulations using the crystal structures of Trypanosoma cruzi TAT and human TAT provided further insight regarding the substrate-enzyme interactions and substrate *** biochemical and structural properties of TAT and the binding of its cofactor and the substrate may help in elucidation of the mechanism of TAT inhibition and activation.

关键词： tyrosine aminotransferase crystal structure substrate specificity tyrosine tyrosinemia

Pediatric metabolic liver diseases:Evolving role of liver transplantation

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World Journal of Transplantation 2021年第6期11卷 161-179页

作者： Jagadeesh Menon Mukul Vij Deepti Sachan Ashwin Rammohan Naresh Shanmugam Ilankumaran Kaliamoorthy Mohamed Rela Institute of Liver Disease and Transplantation Dr Rela Institute and Medical CenterChennai 600044Tamil NaduIndia Department of Pathology Dr Rela Institute and Medical CenterChennai 600044Tamil NaduIndia Department of Transfusion Medicine Dr Rela Institute and Medical CenterChennai 600044Tamil NaduIndia

Metabolic liver diseases(MLD)are the second most common indication for liver transplantation(LT)in *** is based on the fact that the majority of enzymes involved in various metabolic pathways are present within the liver and LT can cure or at least control the disease *** is also performed in metabolic disorders for end-stage liver disease,its sequelae including hepatocellular *** is also performed for preventing metabolic crisis’,arresting progression of neurological dysfunction with a potential to reverse symptoms in some cases and for preventing damage to end organs like kidneys as in the case of primary hyperoxalosis and methyl malonic *** findings in explant liver with patients with metabolic disease include unremarkable liver to steatosis,cholestasis,inflammation,variable amount of fibrosis,and *** outcome of LT in metabolic disorders is excellent except for patients with mitochondrial disorders where significant extrahepatic involvement leads to poor outcomes and hence considered a contraindication for LT.A major advantage of LT is that in the post-operative period most patients can discontinue the special formula which they were having prior to the transplant and this increases their well-being and improves growth *** partial orthotopic LT has been described for patients with noncirrhotic MLD where a segmental graft is implanted in an orthotopic position after partial resection of the native *** retained native liver can be the potential target for future gene therapy when it becomes a clinical reality.

关键词： Liver transplantation Metabolic liver disease tyrosinemia Wilson disease Glycogen storage diseases Urea cycle disorders Pathology Auxiliary liver transplant