keyword
MENU ▼
Read by QxMD icon Read
search

Inherited liver disease

keyword
https://www.readbyqxmd.com/read/28420927/in-silico-analysis-of-fragile-histidine-triad-involved-in-regression-of-carcinoma
#1
Muhammad Asif Rasheed, Fatima Tariq, Sara Afzal, Shazia Mannanv
Hepatocellular carcinoma (HCCa) is a primary malignancy of the liver. Many different proteins are involved in HCCa including insulin growth factor (IGF) II , signal transducers and activators of transcription (STAT) 3, STAT4, mothers against decapentaplegic homolog 4 (SMAD 4), fragile histidine triad (FHIT) and selective internal radiation therapy (SIRT) etc. The present study is based on the bioinformatics analysis of FHIT protein in order to understand the proteomics aspect and improvement of the diagnosis of the disease based on the protein...
April 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28419579/erdj3-has-an-essential-role-for-z-variant-alpha-1-antitrypsin-degradation
#2
Nazli Khodayari, George Marek, Yuanqing Lu, Karina Krotova, Rejean Liqun Wang, Mark Brantly
Alpha-1-antitrypsin deficiency (AATD) is an inherited disease characterized by emphysema and liver disease. AATD is most often caused by a single amino acid substitution at amino acid 342 in the mature protein, resulting in the Z mutation of the alpha-1-antitrypsin gene (ZAAT). This substitution is associated with misfolding and accumulation of ZAAT in the endoplasmic reticulum (ER) of hepatocytes and monocytes, causing a toxic gain of function. Retained ZAAT is eliminated by ER-associated degradation and autophagy...
April 17, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28411097/-acute-liver-failure-related-to-inherited-metabolic-diseases-in-young-children
#3
Filipa Dias Costa, Rita Moinho, Sandra Ferreira, Paula Garcia, Luísa Diogo, Isabel Gonçalves, Carla Pinto
INTRODUCTION: Pediatric acute liver failure (ALF) due to inherited metabolic diseases (IMD) is a rare life-threatening condition with a poor prognosis. Early intervention may be lifesaving. OBJECTIVE: To describe clinical presentation, investigation and outcomes of ALF related to IMD in young children. MATERIAL AND METHODS: Retrospective review of the medical records of children aged up to 24 months, admitted to a tertiary pediatric and neonatal Intensive Care Unit during a 27-year period, fulfilling the ALF criteria, with documented metabolic etiology...
April 11, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28404878/activation-of-liver-x-receptor-delayed-the-retinal-degeneration-of-rd1-mice-through-modulation-of-the-immunological-function-of-glia
#4
Xiao He, Dayu Sun, Siyu Chen, Haiwei Xu
Retinal degeneration (RD), including retinitis pigmentosa (RP), is an inherited eye disease characterized by progressive degeneration of photoreceptors. Recently, immune cells, including microglia, Müller cells and astrocytes, in degenerative retina are demonstrated to play key roles in the development of RD and can be used as potential therapeutic targets. Liver X receptors (LXRs) are important immuno-inflammatory response transcription factors that have been reported to be a new potential therapeutic drug target for neurodegenerative diseases...
March 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28397058/clinical-and-biochemical-heterogeneity-between-patients-with-glycogen-storage-disease-type-ia-the-added-value-of-cusum-for-metabolic-control
#5
Fabian Peeks, Thomas A H Steunenberg, Foekje de Boer, M Estela Rubio-Gozalbo, Monique Williams, Rob Burghard, Fabienne Rajas, Maaike H Oosterveer, David A Weinstein, Terry G J Derks
OBJECTIVE: To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase). STUDY DESIGN: Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and siblings from four families carrying identical G6PC genotypes...
April 10, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28392828/screening-of-wilson-s-disease-in-a-psychiatric-population-difficulties-and-pitfalls-a-preliminary-study
#6
Caroline Demily, François Parant, David Cheillan, Emmanuel Broussolle, Alice Pavec, Olivier Guillaud, Lioara Restier, Alain Lachaux, Muriel Bost
BACKGROUND: Wilson's disease (WD) is a rare autosomal-recessive, inherited disorder caused by a mutation in the copper-transporting gene ATP7B affecting the liver and nervous system. About 30% of patients with WD may initially present with psychiatric symptoms, and diagnosis can be difficult to establish. The objectives of the present preliminary study were [1] to evaluate the relevance of serum copper (Cu) and ceruloplasmin (Cp) measures in hospitalized patients with psychiatric disorders; and [2] to identify possible mutations in the ATP7B gene in patients with abnormal biological copper profile...
2017: Annals of General Psychiatry
https://www.readbyqxmd.com/read/28385542/model-systems-for-studying-the-role-of-canalicular-efflux-transporters-in-drug-induced-cholestatic-liver-disease
#7
REVIEW
Bruno Stieger, Zainab M Mahdi
Bile formation is a key function of the liver. Disturbance of bile flow may lead to liver disease and is called cholestasis. Cholestasis may be inherited such as for example in progressive familial intrahepatic cholestasis or acquired, such as for example by drug-mediated inhibition of bile salt export from hepatocytes into the canaliculi. The key transport system for exporting bile salts into the canaliculi is the bile salt export pump. Inhibition of the bile salt export pump by drugs is a well-established cause of drug-induced cholestasis...
April 3, 2017: Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28377426/alterations-in-endo-lysosomal-function-induce-similar-hepatic-lipid-profiles-in-rodent-models-of-drug-induced-phospholipidosis-and-sandhoff-disease
#8
Emmanuelle Lecommandeur, David Baker, Timothy M Cox, Andrew W Nicholls, Julian L Griffin
Drug-induced phospholipidosis (DIPL) is characterised by an increase in the phospholipid content of the cell and the accumulation of drugs and lipids inside the lysosomes of affected tissues, including in the liver. While of uncertain pathological significance for patients, the condition remains a major impediment for the clinical development of new drugs. Human Sandhoff disease (SD) is caused by inherited defects of the β subunit of lysosomal β-hexosaminidases (Hex) A and B, leading to a large array of symptoms, including neurodegeneration and ultimately death by the age of four in its most common form...
April 4, 2017: Journal of Lipid Research
https://www.readbyqxmd.com/read/28375157/isolated-polycystic-liver-disease-genes-define-effectors-of-polycystin-1-function
#9
Whitney Besse, Ke Dong, Jungmin Choi, Sohan Punia, Sorin V Fedeles, Murim Choi, Anna-Rachel Gallagher, Emily B Huang, Ashima Gulati, James Knight, Shrikant Mane, Esa Tahvanainen, Pia Tahvanainen, Simone Sanna-Cherchi, Richard P Lifton, Terry Watnick, York P Pei, Vicente E Torres, Stefan Somlo
Dominantly inherited isolated polycystic liver disease (PCLD) consists of liver cysts that are radiologically and pathologically identical to those seen in autosomal dominant polycystic kidney disease, but without clinically relevant kidney cysts. The causative genes are known for fewer than 40% of PCLD index cases. Here, we have used whole exome sequencing in a discovery cohort of 102 unrelated patients who were excluded for mutations in the 2 most common PCLD genes, PRKCSH and SEC63, to identify heterozygous loss-of-function mutations in 3 additional genes, ALG8, GANAB, and SEC61B...
April 4, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28371402/mortality-in-joubert-syndrome
#10
Jennifer C Dempsey, Ian G Phelps, Ruxandra Bachmann-Gagescu, Ian A Glass, Hannah M Tully, Dan Doherty
Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and improve the lives of patients with JS. We evaluated information on 40 deceased individuals with JS to characterize age and cause of death. We compared this population with 525 living individuals with JS to estimate associations between risk of death and extra-neurological features...
March 28, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28364818/liver-transplantation-in-alpha-1-antitrypsin-deficiency
#11
REVIEW
Virginia C Clark
Alpha-1 antitrypsin (AAT) deficiency is a common inherited metabolic disorder caused by a point mutation in the SERPIN1A gene. A small portion of homozygous PI*ZZ individuals develop severe liver disease that requires liver transplantation. Posttransplant survival is excellent. The largest burden of advanced liver disease lies within the adult population rather than children. Evaluation of lung function in adults before transplant is essential because of the underlying risk for chronic obstructive pulmonary disease...
May 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28364812/coagulopathy-before-and-after-liver-transplantation-from-the-hepatic-to-the-systemic-circulatory-systems
#12
REVIEW
Jonathan G Stine, Patrick G Northup
The hemostatic environment in patients with cirrhosis is a delicate balance between prohemostatic and antihemostatic factors. There is a lack of effective laboratory measures of the hemostatic system in patients with cirrhosis. Many are predisposed to pulmonary embolus, deep vein thrombosis, and portal vein thrombosis in the pretransplantation setting. This pretransplantation hypercoagulable milieu seems to extend for at least several months post-transplantation. Patients with nonalcoholic fatty liver disease, inherited thrombophilia, portal hypertension in the absence of cirrhosis, and hepatocellular carcinoma often require individualized approach to anticoagulation...
May 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28338110/frequency-of-the-ugt1a1-28-polymorphism-in-a-romanian-cohort-of-gilbert-syndrome-individuals
#13
Viorica E Radoi, Radu I Ursu, Elena Poenaru, Cosmin Arsene, Camil L Bohiltea, Roxana Bohiltea
BACKGROUND AND AIMS: Gilbert syndrome (GS) is characterized by unconjugated hyperbilirubinemia without liver disease or overt hemolysis and it is found in 3-10% of the general population. Inherited hyperbilirubinaemia is attributable to a reduced UGT1A1 activity. The UGT1A1 promoter (TA) repeats variants are documented of being involved in abnormally elevated bilirubin levels. The aim of the present study is to analyze the impact of UGT1A1 promoter variants on bilirubin levels in Romanian patients clinically supected with GS...
March 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28332028/infection-profile-in-chronic-granulomatous-disease-a-23-year-experience-from-a-tertiary-care-center-in-north-india
#14
Amit Rawat, Pandiarajan Vignesh, Avinash Sharma, Jitendra K Shandilya, Madhubala Sharma, Deepti Suri, Anju Gupta, Vikas Gautam, Pallab Ray, Shivaprakash M Rudramurthy, Arunaloke Chakrabarti, Kohsuke Imai, Shigeaki Nonoyama, Osamu Ohara, Yu L Lau, Surjit Singh
PURPOSE: Chronic granulomatous disease (CGD) is an inherited phagocytic disorder characterized by recurrent infections with usually catalase-positive organisms. Infections in CGD from developing countries are expected to be different from those in the Western countries. We report the profile of infections in children diagnosed with CGD from a tertiary care center in North India. METHODOLOGY: Case records of children diagnosed with CGD at Pediatric Immunodeficiency Clinic, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India, from August 1993 to April 2016 (23 years) were analyzed...
March 22, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28331220/identification-of-biallelic-extl3-mutations-in-a-novel-type-of-spondylo-epi-metaphyseal-dysplasia
#15
Long Guo, Nursel H Elcioglu, Shuji Mizumoto, Zheng Wang, Bilge Noyan, Hatice M Albayrak, Shuhei Yamada, Naomichi Matsumoto, Noriko Miyake, Gen Nishimura, Shiro Ikegawa
Spondylo-epi-metaphyseal dysplasia (SEMD) is a group of inherited skeletal diseases characterized by the anomalies in spine, epiphyses and metaphyses. SEMD is highly heterogeneous and >20 distinct entities have been identified. Here we describe a novel type of SEMD in two unrelated Turkish patients who presented with severe platyspondyly, kyphoscoliosis, pelvic distortion, constriction of the proximal femora and brachydactyly. Although these phenotypes overlap considerably with some known SEMDs, they had a novel causal gene, exostosin-like glycosyltransferase 3 (EXTL3), that encodes a glycosyltransferase involved in the synthesis of heparin and heparan sulfate...
March 23, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28317394/an-update-on-the-pathophysiology-and-management-of-polycystic-liver-disease
#16
May Yw Wong, Geoffrey W McCaughan, Simone I Strasser
Polycystic liver disease (PLD) is characterized by the presence of multiple cholangiocyte-derived hepatic cysts that progressively replace liver tissue. They are classified as an inherited ciliopathy /cholangiopathy as pathology exists at the level of the primary cilia of cholangiocytes. Aberrant expression of the proteins in primary cilia can impair their structures and functions, thereby promoting cystogenesis. Areas covered: This review begins by looking at the epidemiology of PLD and its natural history...
March 28, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28301499/svip-regulates-z-variant-alpha-1-antitrypsin-retro-translocation-by-inhibiting-ubiquitin-ligase-gp78
#17
Nazli Khodayari, Rejean Liqun Wang, George Marek, Karina Krotova, Mariana Kirst, Chen Liu, Farshid Rouhani, Mark Brantly
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder characterized by early-onset emphysema and liver disease. The most common disease-causing mutation is a single amino acid substitution (Glu/Lys) at amino acid 342 of the mature protein, resulting in disruption of the 290-342 salt bridge (an electrophoretic abnormality defining the mutation [Z allele, or ZAAT]), protein misfolding, polymerization, and accumulation in the endoplasmic reticulum of hepatocytes and monocytes. The Z allele causes a toxic gain of function, and the E3 ubiquitin ligase gp78 promotes degradation and increased solubility of endogenous ZAAT...
2017: PloS One
https://www.readbyqxmd.com/read/28292253/the-adeno-associated-virus-a-safe-and-effective-vehicle-for-liver-specific-gene-therapy-of-inherited-and-non-inherited-diseases
#18
Kai Yan Mak, Indu G Rajapaksha, Peter W Angus, Chandana B Herath
The first human adeno-associated virus (AAV) was originally discovered in 1960s as a contaminant of adenovirus stocks preparation and thus it had not been of medical interest. Throughout last three decades AAV has gained popularity to be used in gene therapy, mainly due to its replicative defectiveness and lack of pathogenicity in human. In addition, the ability to mediate a stable and long-term expression in both non-dividing and dividing cells with specific tissue tropism makes AAV as one of the most promising candidates for therapeutic gene transfer to treat many genetic as well as non-genetic disorders...
March 14, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28289587/polymorphisms-of-%C3%AE-1-antitrypsin-and-interleukin-6-genes-and-the-progression-of-hepatic-cirrhosis-in-patients-with-a-hepatitis-c-virus-infection
#19
T Motawi, O G Shaker, R M Hussein, M Houssen
Hepatitis C virus (HCV) infection represents a serious health problem. The -174 G/C mutation in the pro inflammatory cytokine interleukin-6 (IL-6) is associated with developing liver diseases. Likewise, the S and Z mutations in the serine protease inhibitor α1-antitrypsin (A1AT) are associated with pulmonary emphysema and/or liver cirrhosis. We explored the distribution of the single nucleotide polymorphisms (SNPs) of IL-6 and A1AT genes in chronic HCV-infected patients and evaluated their impact on the progression of liver cirrhosis...
December 1, 2016: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28285544/improvement-of-aav-mediated-liver-transduction-efficacy-by-regional-administration-in-macaca-fascicularis
#20
Nerea Zabaleta, David Salas, Maria Paramo, Mirja Hommel, Valerie Valerie Sier-Ferreira, Ruben Hernandez-Alcoceba, Jesus Prieto, Jose Ignacio Bilbao, Gloria Gonzalez-Aseguinolaza
The liver is a central organ in metabolism and can be affected by numerous inherited metabolic disorders. Recombinant adeno-associated virus (AAV)-based gene therapy represents a promising therapeutic approach for such diseases. AAVs have been demonstrated to be safe, and resulted in high and long-term expression in preclinical and clinical studies. However, there are still some concerns regarding the expression levels that can be achieved and the percentage of hepatocytes that can be transduced. Due to the cell-autonomous nature of most metabolic liver disorders, a high percentage of hepatocytes needs to be corrected in order to achieve a therapeutic effect...
March 12, 2017: Human Gene Therapy. Clinical Development
keyword
keyword
102128
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"