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Inherited liver disease

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https://www.readbyqxmd.com/read/28716239/acquired-transthyretin-amyloidosis-after-domino-liver-transplant-phenotypic-correlation-implication-of-liver-retransplantation
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28650593/hhv-6-in-liver-transplantation-a-literature-review
#9
REVIEW
Tuan L Phan, Irmeli Lautenschlager, Raymund R Razonable, Flor M Munoz
Human herpesvirus 6 (HHV-6A and HHV-6B) can cause primary infection or reactivate from latency in liver transplant recipients, which can result in a variety of clinical syndromes, including fever, hepatitis, encephalitis, and higher rates of graft dysfunction as well as indirect effects including increased risks of mortality, CMV disease, hepatitis C progression and greater fibrosis scores. Although HHV-6 infection is currently diagnosed by quantifying viral DNA in plasma or blood, biopsy to demonstrate histopathologic effects of HHV-6 remains the gold standard for diagnosis of end-organ disease...
June 26, 2017: Liver International: Official Journal of the International Association for the Study of the Liver
https://www.readbyqxmd.com/read/28626473/clinical-applicability-of-whole-exome-sequencing-exemplified-by-a-study-in-young-adults-with-the-advanced-cryptogenic-cholestatic-liver-diseases
#10
Maria Kulecka, Andrzej Habior, Agnieszka Paziewska, Krzysztof Goryca, Michalina Dąbrowska, Filip Ambrozkiewicz, Bożena Walewska-Zielecka, Andrzej Gabriel, Michal Mikula, Jerzy Ostrowski
BACKGROUND: The proper use of new medical tests in clinical practice requires the establishment of their value and range of diagnostic usefulness. While whole-exome sequencing (WES) has already entered the medical practice, recognizing its diagnostic usefulness in multifactorial diseases has not yet been achieved. AIMS: The objective of this study was to establish usability of WES in determining genetic background of chronic cholestatic liver disease (CLD) in young patients...
2017: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/28614198/the-almost-normal-liver-biopsy-presentation-clinical-associations-and-outcome
#11
Thomas W Czeczok, John S Van Arnam, Laura D Wood, Michael S Torbenson, Taofic Mounajjed
Liver biopsies obtained for abnormal liver enzymes or unexplained ascites occasionally appear histologically almost normal. The differential diagnosis for these cases is challenging because literature addressing this topic is lacking. We aimed to establish a differential diagnosis and determine clinical associations and outcomes for almost-normal liver biopsies. Ninety-seven histologically almost-normal liver biopsies were collected from 2 institutions. All cases lacked significant inflammation, fatty change, biliary tract disease, vascular disease, nodular regenerative hyperplasia, iron overload, inherited metabolic or storage disorder, viral hepatitis, or fibrosis...
June 13, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28608518/liver-transplantation-may-prevent-neurodevelopmental-deterioration-in-high-risk-patients-with-urea-cycle-disorders
#12
Jun Kido, Shirou Matsumoto, Ken Momosaki, Rieko Sakamoto, Hiroshi Mitsubuchi, Fumio Endo, Kimitoshi Nakamura
UCDs are among the most common inherited metabolic diseases in Japan. We investigated the clinical manifestations, treatment, and prognoses of 177 patients with UCDs who were evaluated and treated from January 1999 to March 2009 in Japan, using a questionnaire survey. Among these 177 patients, 42 (seven with carbamoyl phosphate synthetase 1 deficiency, 27 with ornithine transcarbamylase deficiency, seven with argininosuccinate synthetase deficiency, and one with arginase 1 deficiency) underwent living-donor LT...
June 12, 2017: Pediatric Transplantation
https://www.readbyqxmd.com/read/28603894/a-performance-evaluation-of-a-novel-human-recombinant-tissue-factor-prothrombin-time-reagent-revohem-%C3%A2-pt
#13
C Gardiner, K Kohama, I Patel, P Lane, S Dwyer, S J Machin, I J Mackie
INTRODUCTION: A new prothrombin time reagent (Revohem™ PT) based on recombinant human tissue factor produced by the silkworm-baculovirus expression system was tested. The aim of this study was to compare the performance of the new PT reagent with two widely used routine PT reagents. METHODS: All testing was performed on a Sysmex CS-5100 coagulometer. Revohem(™) PT was tested for imprecision and stability using normal and abnormal lyophilized commercial control plasmas...
June 12, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28597792/implications-of-the-calcium-sensing-receptor-in-ischemia-reperfusion
#14
François Paquot, Justine Huart, Jean-Olivier Defraigne, Jean-Marie Krzesinski, François Jouret
The calcium-sensing receptor (CaSR) is a G protein-coupled receptor (GPCR) which was first isolated from bovine parathyroid glands. Its complex structure has been well characterized, which helped to better understand its function. The CaSR activity can be modulated by various ligands, either activators (also called "calcimimetics") or inhibitors (or "calcilytics"). The main role of the CaSR concerns Ca(2+) homeostasis. In bone, intestine and kidney, the CaSR acts as a sensor for extracellular ionized Ca(2+) concentration ([Ca(2+)]e) to keep it stable...
April 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28585336/liver-directed-human-amniotic-epithelial-cell-transplantation-improves-systemic-disease-phenotype-in-hurler-syndrome-mouse-model
#15
Natalie S Rodriguez, Lisa Yanuaria, Kevin Murphy R Parducho, Irving M Garcia, Bino A Varghese, Brendan H Grubbs, Toshio Miki
Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA). In affected patients, the systemic accumulation of GAGs results in skeletal dysplasia, neurological degeneration, multiple organ dysfunction, and early death. Current therapies, including enzyme replacement and bone marrow transplant, improve life expectancy but the benefits to skeletal and neurological phenotypes are limited. In this study, we tested the therapeutic efficacy of liver-directed transplantation of a placental stem cell, which possesses multilineage differentiation potential, low immunogenicity, and high lysosomal enzyme activity...
June 6, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28583540/living-donor-liver-transplantation-for-progressive-familial-intrahepatic-cholestasis-type-1-two-reported-cases
#16
Y Oya, Y Sugawara, M Honda, D Yoshii, K Isono, S Hayashida, H Yamamoto, Y Inomata
BACKGROUND: Progressive familial intrahepatic cholestasis type 1 (PFIC1) is an inherited disease characterized by cholestatic features. We report two patients with PFIC1 who underwent liver retransplantation. CASE REPORT: One patient was a 3-year-old female who underwent liver transplantation for PFIC1. She presented with severe diarrhea and fatty liver, and went into liver failure. She therefore underwent liver retransplantation and external biliary diversion 8 years after the initial liver transplantation...
June 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28574019/k-time-maximum-amplitude-of-thromboelastogram-predict-post-central-venous-cannulation-bleeding-in-patients-with-cirrhosis-a-pilot-study
#17
Chandra K Pandey, Vandana Saluja, Kumar Gaurav, Manish Tandon, Vijay K Pandey, Ajeet S Bhadoria
BACKGROUND & OBJECTIVES: Coagulation and haemostasis are dynamic processes. The haemostatic changes in liver disease affect all aspects of coagulation. The prothrombin time (PT)/ international normalized ratio (INR) was developed to monitor oral anticoagulant therapy and the activated partial thromboplastin time to investigate inheritable single factor deficiencies. Viscoelastic tests such as thromboelastogram (TEG) give information about dynamics of clot formation (coagulation factor and anticoagulant activity), clot strength (platelets and fibrinogen) and clot stability (finbrinolysis and factor XIII)...
January 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28570521/histological-analyses-of-acute-alcoholic-liver-injury-in-zebrafish
#18
Jillian L Ellis, Chunyue Yin
Alcoholic Liver Disease (ALD) refers to damage to the liver due to acute or chronic alcohol abuse. It is among the leading causes of alcohol-related morbidity and mortality and affects more than 2 million people in the United States. A better understanding of the cellular and molecular mechanisms underlying alcohol-induced liver injury is crucial for developing effective treatment for ALD. Zebrafish larvae exhibit hepatic steatosis and fibrogenesis after just 24 h of exposure to 2% ethanol, making them useful for the study of acute alcoholic liver injury...
May 25, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28567607/pancreatic-neuroendocrine-tumors-in-men1-disease-a-mono-centric-longitudinal-and-prognostic-study
#19
S Chiloiro, F Lanza, A Bianchi, G Schinzari, M G Brizi, A Giampietro, V Rufini, F Inzani, A Giordano, G Rindi, A Pontecorvi, L De Marinis
PURPOSE: Multiple endocrine neoplasia type 1 (MEN1) is an inherited endocrine neoplastic syndrome associated with a greater risk of endocrine tumor development like pancreatic neuroendocrine tumors (p-NET), with different clinical characteristics from sporadic ones. This paper aims to compare clinical, hystological and morphological aspects of p-NET in patients affected from MEN1 (MEN1+) and not-affected ones (MEN1-). METHODS: We performed a retrospective observational study...
May 31, 2017: Endocrine
https://www.readbyqxmd.com/read/28567541/gene-therapy-for-monogenic-liver-diseases-clinical-successes-current-challenges-and-future-prospects
#20
Julien Baruteau, Simon N Waddington, Ian E Alexander, Paul Gissen
Over the last decade, pioneering liver-directed gene therapy trials for haemophilia B have achieved sustained clinical improvement after a single systemic injection of adeno-associated virus (AAV) derived vectors encoding the human factor IX cDNA. These trials demonstrate the potential of AAV technology to provide long-lasting clinical benefit in the treatment of monogenic liver disorders. Indeed, with more than ten ongoing or planned clinical trials for haemophilia A and B and dozens of trials planned for other inherited genetic/metabolic liver diseases, clinical translation is expanding rapidly...
May 31, 2017: Journal of Inherited Metabolic Disease
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