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https://www.readbyqxmd.com/read/28804827/assessment-of-hereditary-thrombophilia-performance-of-antithrombin-at-testing
#1
Jana N Gausman, Richard A Marlar
Antithrombin (AT) is a naturally occurring plasma inhibitor of coagulation, which is a synthesized in the liver. AT inhibits coagulation serine proteases (the enzymatically activated forms of the clotting factors), mainly thrombin (factor IIa) and factor Xa, but also to a lesser extent factors IXa, XIa, and XIIa. Acting alone, AT inhibits coagulation factors, but does this very slowly; however, when coupled with heparin as a cofactor, the speed of inhibition is increased many fold. The AT/Heparin complex is the most powerful naturally occurring anticoagulant in blood...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28802248/utility-of-rapid-whole-exome-sequencing-in-the-diagnosis-of-neonatal-niemann-pick-disease-type-c-presenting-with-fetal-hydrops-and-liver-failure
#2
Mersedeh Rohanizadegan, Sarah El-Almery, Anne O'Donnell-Luria, Ivana Mihalek, Peggy Chen, Marilyn Sanders, Kristen Leeman, Megan Cho, Christina Hung, Olaf Bodamer
Rapid whole exome sequencing (rWES) is increasingly used in critically ill newborn infants to inform about diagnosis, clinical management and prognosis. Here we report a male newborn infant with hydrops, pancytopenia and acute liver failure who was listed for liver transplantation. Given the acuity of the presentation, the procedure related morbidity and mortality and lack of diagnosis we employed rWES in the proband and both parents with a turn-around time of 10 business days. rWES returned one maternally inherited, likely pathogenic and one paternally inherited, likely pathogenic variant in NPC1 suggestive of a diagnosis of Niemann Pick disease type C (NPC)...
August 11, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28792652/mutations-in-the-novel-gene-fopv-are-associated-with-familial-autosomal-dominant-and-non-familial-obliterative-portal-venopathy
#3
Claude Besmond, Dominique Valla, Laurence Hubert, Karine Poirier, Brigitte Grosse, Catherine Guettier, Olivier Bernard, Emmanuel Gonzales, Emmanuel Jacquemin
BACKGROUND AND AIMS: Obliterative portal venopathy (OPV) is characterized by lesions of portal vein intrahepatic branches and is thought to be responsible for many cases of portal hypertension in absence of cirrhosis or obstruction of large portal or hepatic veins. In most cases the cause of OPV remains unknown. The aim was to identify a candidate gene of OPV. METHODS: Whole exome sequencing was performed in two families, including 6 patients with OPV. Identified mutations were confirmed by Sanger sequencing and expression of candidate gene transcript was studied by real time qPCR in human tissues...
August 9, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28776642/diagnosis-of-monogenic-liver-diseases-in-childhood-by-next-generation-sequencing
#4
Amelie Stalke, Britta Skawran, Bernd Auber, Thomas Illig, Brigitte Schlegelberger, Norman Junge, Imeke Goldschmidt, Christoph Leiskau, Nils von Neuhoff, Ulrich Baumann, Eva-Doreen Pfister
Next-Generation Sequencing (NGS) has opened up novel diagnostic opportunities for children with unidentified, but suspected inherited diseases. We describe our single-center experience with NGS diagnostics in standard clinical scenarios in pediatric hepatology. We investigated 135 children with suspected inherited hepatopathies, where initially no causative pathogenic variant had been identified, with an amplicon-based NGS panel of 21 genes associated with acute and chronic hepatopathies. In 23 of these patients we detected pathogenic or likely pathogenic variants in ten different genes...
August 4, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28774368/-clinical-feature-and-molecular-diagnostic-analysis-of-the-first-non-caucasian-child-with-infantile-liver-failure-syndrome-type-1
#5
Wei-Xia Lin, Qi-Qi Zheng, Li Guo, Ying Cheng, Yuan-Zong Song
Infantile liver failure syndrome type 1 (ILFS1) is a Mendelian disease due to biallelic mutations in the cytoplasmic leucyl-tRNA synthetase gene (LARS). This study aimed to report the clinical and molecular features of the first non-caucasian ILFS1 patient, providing reliable evidences for the definite diagnosis of ILFS1. The 2 years and 9 months old male patient was referred to the hospital with hepatosplenomegaly over 1 year. At age 17 months, he was found to have hepatosplenomegaly and anemia. Since then, he had been managed in different hospitals...
August 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28769107/innate-immune-basis-for-rift-valley-fever-susceptibility-in-mouse-models
#6
Rashida Lathan, Dominique Simon-Chazottes, Grégory Jouvion, Ophélie Godon, Marie Malissen, Marie Flamand, Pierre Bruhns, Jean-Jacques Panthier
Rift Valley fever virus (RVFV) leads to varied clinical manifestations in animals and in humans that range from moderate fever to fatal illness, suggesting that host immune responses are important determinants of the disease severity. We investigated the immune basis for the extreme susceptibility of MBT/Pas mice that die with mild to acute hepatitis by day 3 post-infection compared to more resistant BALB/cByJ mice that survive up to a week longer. Lower levels of neutrophils observed in the bone marrow and blood of infected MBT/Pas mice are unlikely to be causative of increased RVFV susceptibility as constitutive neutropenia in specific mutant mice did not change survival outcome...
August 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28765628/nod2-gene-variants-confer-risk-for-secondary-sclerosing-cholangitis-in-critically-ill-patients
#7
Christoph Jüngst, Vanessa Stadlbauer, Matthias C Reichert, Vincent Zimmer, Susanne N Weber, Lisa Ofner-Ziegenfuß, Torsten Voigtländer, Walter Spindelböck, Peter Fickert, Gabriele I Kirchner, Frank Lammert, Tim O Lankisch, Marcin Krawczyk
Sclerosing cholangitis in critically ill patients (SC-CIP) is a progressive cholestatic disease of unknown aetiology characterized by chronic biliary infections. Hence we hypothesized that common NOD2 (nucleotide-binding oligomerisation domain containing 2) gene variants, known risk factors for Crohn's disease and bacterial translocation in liver cirrhosis, increase the odds of developing SC-CIP. Screening of 4,641 endoscopic retrograde cholangiography procedures identified 17 patients with SC-CIP, who were then genotyped for the three common NOD2 mutations (Cohort 1, discovery cohort)...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28755194/hereditary-tyrosinemia-type-1-in-turkey
#8
Ayse Cigdem Aktuglu-Zeybek, Ertugrul Kiykim, M Serif Cansever
Hereditary tyrosinemia type 1 (HT1, OMIM 276700) is a rare autosomal recessively inherited inborn error of metabolism in the tyrosine catabolic pathway due to deficiency of the enzyme fumarylacetoacetate hydrolase. The clinical features of HT1 are widely heterogenous even within the same family members. Clinical features includes acute or chronic liver disease with increased risk of hepatocellular carcinoma, hypophosphatemic rickets due to renal tubular dysfunction, glomerulosclerosis, failure to thrive, neurological porphyria-like crisis, hypertrophic cardiomyopathy and hypoglycemia due to hyperinsulinism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755193/hepatorenal-tyrosinemia-in-mexico-a-call-to-action
#9
Isabel Ibarra-González, Cecilia Ridaura-Sanz, Cynthia Fernández-Lainez, Sara Guillén-López, Leticia Belmont-Martínez, Marcela Vela-Amieva
Hepatorenal tyrosinemia is a treatable metabolic disease characterized by progressive liver failure, renal damage and pronounced coagulopathy. Its clinical diagnosis is difficult because of its low prevalence and heterogeneous symptoms. In developed countries, expanded newborn screening, based on succinylacetone quantification by tandem mass spectrometry, has been very valuable in the early detection of hepatorenal tyrosinemia, providing the opportunity for rapid treatment of affected patients. In developing countries without systematic expanded newborn screening, however, diagnosis and treatment of this disease remain major challenges, as genetic diseases in these countries are not a health priority and there are few referral centers for infants with inherited errors of metabolism...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28755163/cxcl9-11-polymorphisms-are-associated-with-liver-fibrosis-in-patients-with-chronic-hepatitis-c-a-cross-sectional-study
#10
María Ángeles Jiménez-Sousa, Ana Zaida Gómez-Moreno, Daniel Pineda-Tenor, Luz Maria Medrano, Juan José Sánchez-Ruano, Amanda Fernández-Rodríguez, Tomas Artaza-Varasa, José Saura-Montalban, Sonia Vázquez-Morón, Pablo Ryan, Salvador Resino
BACKGROUND AND AIMS: CXCL9-11 polymorphisms are related to various infectious diseases, including hepatitis C virus (HCV) infection. In this study, we analyzed the association between CXCL9-11 polymorphisms and liver fibrosis in HCV-infected patients. METHODS: We performed a cross-sectional study in 389 patients who were genotyped for CXCL9-11 polymorphisms (CXCL9 rs10336, CXCL10 rs3921, and CXCL11 rs4619915) using the Sequenom's MassARRAY platform. The primary outcome variable was the liver stiffness measurement (LSM)...
December 2017: Clinical and Translational Medicine
https://www.readbyqxmd.com/read/28745070/management-options-for-cholestatic-liver-disease-in-children
#11
Andrea Catzola, Pietro Vajro
Due to a peculiar age-dependent increased susceptibility, neonatal cholestasis affects the liver of approximately 1 in every 2500 term infants. A high index of suspicion is the key to an early diagnosis, and to implement timely, often life-saving treatments. Even when specific treatment is not available or curative, prompt medical management and optimization of nutrition are of paramount importance to survival and avoidance of complications. Areas covered: The present article will prominently focus on a series of newer diagnostic and therapeutic options of cholestasis in neonates and infants blended with consolidated established paradigms...
July 28, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28733223/sequencing-of-fic1-bsep-and-mdr3-in-a-large-cohort-of-patients-with-cholestasis-revealed-a-high-number-of-different-genetic-variants
#12
Carola Dröge, Michele Bonus, Ulrich Baumann, Caroline Klindt, Elke Lainka, Simone Kathemann, Florian Brinkert, Enke Grabhorn, Eva-Doreen Pfister, Daniel Wenning, Alexander Fichtner, Daniel N Gotthardt, Karl Heinz Weiss, Patrick McKiernan, Ratna Dua Puri, I C Verma, Stefanie Kluge, Holger Gohlke, Lutz Schmitt, Ralf Kubitz, Dieter Häussinger, Verena Keitel
BACKGROUND&AIMS: The bile salt export pump (BSEP, ABCB11), multidrug resistance protein 3 (MDR3, ABCB4) and the ATPase familial intrahepatic cholestasis 1 (FIC1, ATP8B1) mediate bile formation. Mutations in these genes underlie cholestatic liver diseases ranging from intrahepatic cholestasis of pregnancy, benign recurrent intrahepatic cholestasis or low phospholipid-associated cholelithiasis to progressive familial intrahepatic cholestasis. METHODS: Coding exons with flanking intron regions of ATP8B1, ABCB11, and ABCB4 were sequenced in cholestatic patients with assumed genetic cause...
July 19, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28716239/acquired-transthyretin-amyloidosis-after-domino-liver-transplant-phenotypic-correlation-implication-of-liver-retransplantation
#13
Eli Muchtar, Martha Grogan, Surendra Dasari, Paul J Kurtin, Morie A Gertz
Reports of acquired ATTRm in domino liver transplant (DLT) recipients are infrequent and the approach to management is unknown. We describe two patients, an inherited ATTRm patient who underwent liver transplant and his liver recipient who developed acquired ATTRm 8years following transplantation. The clinical manifestations of amyloidosis were similar between patients and consisted of peripheral neuropathy, diarrhea and weight loss. Following liver transplantation, the DLT donor went into remission for 4years, but eventually progressed and died...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28691006/serum-vitamin-a-levels-may-affect-the-severity-of-ocular-graft-versus-host-disease
#14
Jiefeng Tong, Renjian Hu, Yingying Zhao, Yang Xu, Xiaoying Zhao, Xiuming Jin
Allogeneic hematopoietic stem cell transplantation (HSCT) is a well-established therapeutic option for a range of inherited and acquired hematological disorders. However, graft-versus-host disease (GVHD) remains the leading cause of non-relapse mortality in allogeneic HSCT recipients. Ocular involvement occurs in up to 80% of chronic GVHD patients. In our cases, the diagnosis of vitamin A deficiency was suspected for GVHD patients. Serum vitamin A measurements were conducted to confirm clinical suspicions. Our study revealed significant decrease in serum levels of vitamin A in chronic liver GVHD patients...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28683534/a-case-of-alagille-syndrome-presenting-with-chronic-cholestasis-in-an-adult
#15
Jihye Kim, Bumhee Yang, Namyoung Paik, Yon Ho Choe, Yong-Han Paik
Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2...
July 7, 2017: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28682033/-adpkd-and-heart
#16
Francesca Liut, Claudia Izzi, Nadia Dallera, Francesco Scolari
Autosomal Polycystic Kidney Disease ( ADPKD) is the most common inherited renal disease. ADPKD is caused by mutations in PKD1 and PKD2, encoding polycystin 1 and 2, respectively. ADPKD is a systemic disease, with renal and extrarenal involvement. Renal disease is characterized by formation and growth of cysts, with progressive destruction of renal parenchyma and development of End Stage Renal Disease (ESRD) in about 50% of affected individuals at the age of 60 years. Extrarenal disease usually involves the liver, heart and vasculature...
March 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28681670/psychiatric-comorbidity-in-wilson-s-disease
#17
Gioia Mura, Paula C Zimbrean, Luigi Demelia, Mauro G Carta
Wilson's disease (WD) is a relatively rare autosomal recessive inherited disorder causing copper accumulation in different organs, mainly the liver and brain. Psychiatric disturbances represent a diagnostic and therapeutic issue in WD. A search for relevant articles was carried out on PubMed/Medline, Scopus, and Google Scholar, for papers focused on psychiatric disorders in WD published between 1985-2016. Ninety-two articles were included in this review, showing the findings from 35 observational and case-control studies and 57 case reports...
July 6, 2017: International Review of Psychiatry
https://www.readbyqxmd.com/read/28670513/in-vitro-generated-hepatocyte-like-cells-a-novel-tool-in-regenerative-medicine-and-drug-discovery
#18
REVIEW
Kobra Zakikhan, Behshad Pournasr, Massoud Vosough, Marjan Nassiri-Asl
Hepatocyte-like cells (HLCs) are generated from either various human pluripotent stem cells (hPSCs) including induced pluripotent stem cells (iPSCs) and embryonic stem cells (ESCs), or direct cell conversion, mesenchymal stem cells as well as other stem cells like gestational tissues. They provide potential cell sources for biomedical applications. Liver transplantation is the gold standard treatment for the patients with end stage liver disease, but there are many obstacles limiting this process, like insufficient number of donated healthy livers...
July 2017: Cell Journal
https://www.readbyqxmd.com/read/28653383/hyperoxaluria-hyperglycoluria-and-renal-oxalosis-in-gilbert-s-potoroos-potorous-gilbertii
#19
D Forshaw, A M Horwitz, K Ellard, J A Friend, L Greed, M Metz
CASE REPORT: Six Gilbert's potoroos (Potorous gilbertii) in a captive colony, five of which were closely related, died or were euthanased with severe renal disease. Clinical signs were mostly non-specific. Renal calculi were seen on ultrasound of two affected potoroos and oxalate crystalluria was seen in two of three affected potoroos that had urine samples examined. Necropsies revealed extensive severe renal oxalosis in all affected potoroos. These findings and markedly increased concentrations of glycolate in the urine of the four affected potoroos for which it was measured, confirmed a disorder of oxalate metabolism and suggested a condition similar to primary hyperoxaluria type 1 in humans...
July 2017: Australian Veterinary Journal
https://www.readbyqxmd.com/read/28652721/alpha-1-antitrypsin-pi-sz-genotype-estimated-prevalence-and-number-of-sz-subjects-worldwide
#20
Ignacio Blanco, Patricia Bueno, Isidro Diego, Sergio Pérez-Holanda, Beatriz Lara, Francisco Casas-Maldonado, Cristina Esquinas, Marc Miravitlles
The alpha-1 antitrypsin (AAT) haplotype Pi*S, when inherited along with the Pi*Z haplotype to form a Pi*SZ genotype, can be associated with pulmonary emphysema in regular smokers, and less frequently with liver disease, panniculitis, and systemic vasculitis in a small percentage of people, but this connection is less well established. Since the detection of cases can allow the application of preventive measures in patients and relatives with this congenital disorder, the objective of this study was to update the prevalence of the SZ genotype to achieve accurate estimates of the number of Pi*SZ subjects worldwide, based on studies performed according to the following criteria: 1) samples representative of the general population, 2) AAT phenotyping characterized by adequate methods, and 3) selection of studies with reliable results assessed with a coefficient of variation calculated from the sample size and 95% confidence intervals...
2017: International Journal of Chronic Obstructive Pulmonary Disease
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