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Inherited liver disease

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https://www.readbyqxmd.com/read/28203327/a-rapid-screening-test-on-dried-blood-for-the-neonatal-diagnosis-of-tyrosinemia-type-i
#1
Farahnaz Bodaghkhan, Bita Geramizadeh, Abbas Abdollah Rajeh, Mahmoud Haghighat, Mohsen Dehghani, Naser Honar, Mojgan Zahmatkeshan, Mohammad-Hadi Imanieh
BACKGROUND: Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment starting in the neonatal period, the patient can have normal life with very few restrictions in diets containing tyrosine and phenylalanine...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28201848/new-advances-in-polycystic-liver-diseases
#2
A Santos-Laso, L Izquierdo-Sánchez, P Y Lee-Law, M J Perugorria, M Marzioni, J J G Marin, L Bujanda, J M Banales
Polycystic liver diseases (PLDs) include a heterogeneous group of congenital disorders inherited as dominant or recessive genetic traits; they are manifested alone or in association with polycystic kidney disease. Ductal plate malformation during embryogenesis and the loss of heterozygosity linked to second-hit mutations may promote the dilatation and/or development of a large number (> 20) of biliary cysts, which are the main cause of morbidity in these patients. Surgical procedures aimed to eliminate symptomatic cysts show short-term beneficial effects, but are not able to block the disease progression...
February 2017: Seminars in Liver Disease
https://www.readbyqxmd.com/read/28196704/toll-like-receptor-4-antagonist-tak-242-inhibits-autoinflammatory-symptoms-in-ditra
#3
Akitaka Shibata, Kazumitsu Sugiura, Yasuhide Furuta, Yoshiko Mukumoto, Osamu Kaminuma, Masashi Akiyama
BACKGROUND: IL36RN encodes the IL-36 receptor antagonist (IL-36Ra), and loss-of-function mutations in IL36RN define a recessively inherited autoinflammatory disease named "deficiency of IL-36Ra" (DITRA). DITRA causes systemic autoinflammatory diseases, including generalized pustular psoriasis (GPP), an occasionally life-threatening disease that is characterized by widespread sterile pustules on the skin, fever and other systemic symptoms. GPP can present at any age, and provocative factors include various infections, medicines and pregnancy...
February 11, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/28139728/mx1-oas1-and-oas2-polymorphisms-are-associated-with-the-severity-of-liver-disease-in-hiv-hcv-coinfected-patients-a-cross-sectional-study
#4
Mónica García-Álvarez, Juan Berenguer, María A Jiménez-Sousa, Daniel Pineda-Tenor, Teresa Aldámiz-Echevarria, Francisco Tejerina, Cristina Diez, Sonia Vázquez-Morón, Salvador Resino
The mechanisms involved in the chronic hepatitis C progression are incompletely understood. The aim was to analyze the association between 2'5'oligoadenylate synthetase 1,2 and 3 (OAS1-3) and myxovirus resistance proteins 1 (Mx1) polymorphisms and severity of liver disease in human immunodeficiency virus (HIV)/hepatitis C virus (HCV) coinfected patients. We performed a cross-sectional study in 219 patients that underwent a liver biopsy. DNA genotyping for Mx1 (rs469390), OAS1 (rs2285934), OAS2 (rs1293762) and OAS3 (rs2010604) was performed by using GoldenGate assay...
January 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28123333/clinical-molecular-and-genetic-evaluation-of-galactosemia-in-turkish-children
#5
Sezen Ugan Atik, Semra Gürsoy, Tuba Koçkar, Hasan Önal, Servet Erdal Adal
AIM: Galactosemia is a carbohydrate metabolism disorder with autosomal recessive inheritance. The most frequent enzyme deficiency is galactose-1-phosphate-uridylytransferase, which causes classic galactosemia. When the enzyme is absent, an infant cannot metabolize galactose-1-phosphate and it cumulates in liver, kidney, brain, tongue, lens, and skin. This study aimed to evaluate the clinical and molecular characteristics of patients with galactosemia, which is observed more frequently in our country than anywhere else in the world...
December 2016: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/28111381/establishment-of-dna-methylation-patterns-of-the-fibrillin1-fbn1-gene-in-porcine-embryos-and-tissues
#6
Yoshikazu Arai, Kazuhiro Umeyama, Kenta Takeuchi, Natsumi Okazaki, Naomi Hichiwa, Sayaka Yashima, Kazuaki Nakano, Hiroshi Nagashima, Jun Ohgane
DNA methylation in transcriptional regulatory regions is crucial for gene expression. The DNA methylation status of the edges of CpG islands, called CpG island shore, is involved in tissue/cell-type-specific gene expression. Haploinsufficiency diseases are caused by inheritance of one mutated null allele and are classified as autosomal dominant. However, in the same pedigree, phenotypic variances are observed despite the inheritance of the identical mutated null allele, including FBN1, which is responsible for development of the haploinsufficient Marfan disease...
January 22, 2017: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/28096133/regulation-of-the-iron-homeostatic-hormone-hepcidin
#7
REVIEW
Veena Sangkhae, Elizabeta Nemeth
Iron is required for many biological processes but is also toxic in excess; thus, body iron balance is maintained through sophisticated regulatory mechanisms. The lack of a regulated iron excretory mechanism means that body iron balance is controlled at the level of absorption from the diet. Iron absorption is regulated by the hepatic peptide hormone hepcidin. Hepcidin also controls iron release from cells that recycle or store iron, thus regulating plasma iron concentrations. Hepcidin exerts its effects through its receptor, the cellular iron exporter ferroportin...
January 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28095804/pulmonary-manifestations-in-niemann-pick-type-c-disease-with-mutations-in-npc2-gene-case-report-and-review-of-literature
#8
Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth
BACKGROUND: Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ~5% cases are linked with NPC2 gene. CASE PRESENTATION: Case-1, a 14-months-old female presented with recurrent respiratory distress, failure to thrive and hepatosplenomegaly...
January 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28094851/blood-transfusion-for-preventing-primary-and-secondary-stroke-in-people-with-sickle-cell-disease
#9
REVIEW
Lise J Estcourt, Patricia M Fortin, Sally Hopewell, Marialena Trivella, Winfred C Wang
BACKGROUND: Sickle cell disease is one of the commonest severe monogenic disorders in the world, due to the inheritance of two abnormal haemoglobin (beta globin) genes. Sickle cell disease can cause severe pain, significant end-organ damage, pulmonary complications, and premature death. Stroke affects around 10% of children with sickle cell anaemia (HbSS). Chronic blood transfusions may reduce the risk of vaso-occlusion and stroke by diluting the proportion of sickled cells in the circulation...
January 17, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28072961/-a-case-report-of-childhood-farber-s-disease-and-literature-review
#10
X H Bao, J M Tian, T Y Ji, X Z Chang
Objective: To explore the clinical features, diagnosis, treatment and the prognosis of Farber disease by case report and literature review. Method: The clinical information of a case with farber's disease diagnosed in October 2015 at Peking University First Hospital was collected and analyzed, including clinical manifestation, electrophysiology, magnetic resonance imaging, pathology, treatments and prognosis.ASAH1 gene mutational analysis was conducted in the patient and her parents.By using "Farber's disease, ASAH1" as keywords, literature was searched from Pubmed, CHKD and HGMD database from January 1951 to January 2016...
January 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28051253/antioxidant-diet-and-genotyping-as-tools-for-the-prevention-of-liver-disease
#11
R Di Francia, L Rinaldi, M Cillo, E Varriale, G Facchini, C D'Aniello, G Marotta, M Berretta
It is well-known that 75% of risk factors of chronic liver disease (CLD) are related to nutrition. These circumstances potentially progress towards liver steatosis, fibrosis and hepatocellular carcinoma (HCC). It still represents an enormous problem for the economy of public health worldwide. Furthermore, validated prevention programs could be the solution. Recent knowledge in understanding molecular determinants of energy liver metabolism and new genetic markers offers new insights into the pathogenesis of CLD and HCC...
December 2016: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28031453/acute-liver-failure-meets-soph-syndrome-a-case-report-on-an-intermediate-phenotype
#12
Fanny Kortüm, Iris Marquardt, Malik Alawi, Georg Christoph Korenke, Stephanie Spranger, Peter Meinecke, Kerstin Kutsche
Acute liver failure (ALF) is a life-threatening condition in the absence of preexisting liver disease in children. The main clinical presentation comprises hepatic dysfunction, elevated liver biochemical values, and coagulopathy. The etiology of ALF remains unclear in most affected children; however, the recent identification of mutations in the neuroblastoma amplified sequence (NBAS) gene in autosomal recessively inherited ALF has shed light on the cause of a subgroup of fever-triggered pediatric ALF episodes...
January 2017: Pediatrics
https://www.readbyqxmd.com/read/28030845/withdrawn-could-some-epigenetic-modifications-hold-the-key-to-opposing-the-metabolic-syndrome
#13
REVIEW
Giovanni Tarantino, Matteo Nicola Di Minno, Carmine Finelli
Ahead of Print article withdrawn by publisher.
December 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/27992614/a-single-nucleotide-polymorphism-in-the-rasgrf2-gene-is-associated-with-alcoholic-liver-cirrhosis-in-men
#14
Ignacio Novo-Veleiro, Clara Cieza-Borrella, Isabel Pastor, Antonio-Javier Chamorro, Francisco-Javier Laso, Rogelio González-Sarmiento, Miguel Marcos
BACKGROUND: Genetic polymorphisms in the RAS gene family are associated with different diseases, which may include alcohol-related disorders. Previous studies showed an association of the allelic variant rs26907 in RASGRF2 gene with higher alcohol intake. Additionally, the rs61764370 polymorphism in the KRAS gene is located in a binding site for the let-7 micro-RNA family, which is potentially involved in alcohol-induced inflammation. Therefore, this study was designed to explore the association between these two polymorphisms and susceptibility to alcoholism or alcoholic liver disease (ALD)...
2016: PloS One
https://www.readbyqxmd.com/read/27984607/-phenotypic-and-genetic-analysis-of-a-family-affected-with-microvillus-inclusion-disease
#15
Man Mao, Li Guo, Zhanhui Zhang, Bin Wang, Shanhua Huang, Yuanzong Song, Fengping Chen, Wangrong Wen
OBJECTIVE: To explore the clinical features and mutations of MYO5B gene in a family affected with microvillus inclusion disease. METHODS: Clinical data of an infant affected with microvillus inclusion disease was collected. Genomic DNA was extracted from peripheral blood samples from the patient and her parents. PCR amplification and Sanger sequencing were performed to analyze all the exons and their flanking sequences of the MYO5B gene. RESULTS: The patient presented with complicated manifestations including respiratory distress syndrome, dehydration, acidosis, bowel dilatation, liver and kidney dysfunction, and severe and intractable diarrhea...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27967828/homozygous-familial-hypercholesterolaemia-update-on-management
#16
Michael France
Homozygous familial hypercholesterolaemia (HoFH) is an inherited disease causing an approximately fourfold increase in blood low-density lipoprotein cholesterol (LDLC) from birth compared with the age-matched normal population owing to reduced low-density lipoprotein receptor (LDLR) activity. Such elevated cholesterol is associated with accelerated atheromatous disease, particularly of the aortic root and coronary arteries. However, HoFH is clinically heterogeneous, reflecting residual low-density lipoprotein receptor (LDLR) activity...
November 2016: Paediatrics and International Child Health
https://www.readbyqxmd.com/read/27941692/liver-growth-factor-lgf-upregulates-frataxin-protein-expression-and-reduces-oxidative-stress-in-friedreich-s-ataxia-transgenic-mice
#17
Lucía Calatrava-Ferreras, Rafael Gonzalo-Gobernado, Diana Reimers, Antonio S Herranz, María J Casarejos, Adriano Jiménez-Escrig, Javier Regadera, Juan Velasco-Martín, Manuela Vallejo-Muñoz, Juan José Díaz-Gil, Eulalia Bazán
Friedreich's ataxia (FA) is a severe disorder with autosomal recessive inheritance that is caused by the abnormal expansion of GAA repeat in intron 1 of FRDA gen. This alteration leads to a partial silencing of frataxin transcription, causing a multisystem disorder disease that includes neurological and non-neurological damage. Recent studies have proven the effectiveness of neurotrophic factors in a number of neurodegenerative diseases. Therefore, we intend to determine if liver growth factor (LGF), which has a demonstrated antioxidant and neuroprotective capability, could be a useful therapy for FA...
December 9, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27898169/cross-sectional-analysis-of-progressive-familial-intrahepatic-cholestasis-in-puerto-rican-children
#18
Dellys M Soler, Antonio I Del Valle, David Fernandez-Lube, Benjamin L Shneider
OBJECTIVE: Specific inherited disorders may be more common in island communities. Prior case reports suggest that cholestatic liver diseases may constitute a group of these inherited disorders in Puerto Rico. A cross-sectional survey of liver diseases in children was conducted to assess this hypothesis. METHODS: A cross-sectional analysis was performed in patients with chronic cholestasis at "Hospital Pediátrico Universitario" in San Juan, Puerto Rico. Ten potential participants with high gamma-glutamyl transpeptidase (GGTP) cholestasis were identified...
December 2016: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/27892545/erythrocyte-membrane-based-cationic-polymer-mcdna-complexes-as-an-efficient-gene-delivery-system
#19
Ping Huang, Jing Zhao, Chiju Wei, Xiaohu Hou, Pingzhang Chen, Yan Tan, Cheng-Yi He, Zhiyong Wang, Zhi-Ying Chen
Gene therapy has great promise for the treatment of obtained and inherited serious diseases. However, the lack of safe and efficient gene delivery systems remains a barrier for their clinical application. Here, we reported a potential gene delivery vehicle composed of the erythrocyte membrane and cationic polymers, for example the XtremeGENE from Roche and the ε-caprolactone modified polyethylenimine. In addition to high efficiency, this system showed negligible cytotoxicity compared to the two cationic polymers alone in various cell lines, including human embryonic kidney cells (293T), human liver cancer cells (Huh7 and HepG2), murine dendritic cells (DC2...
December 20, 2016: Biomaterials Science
https://www.readbyqxmd.com/read/27889327/epigenetics-in-non-alcoholic-fatty-liver-disease
#20
REVIEW
Jooho Lee, Yuri Kim, Simonetta Friso, Sang-Woon Choi
Non-alcoholic fatty liver disease (NAFLD), a common hepatic disorder ranging from simple steatosis through steatohepatitis to fibrosis and cirrhosis, is an emerging health concern. NAFLD is a pathologic condition characterized by the buildup of extra fat in liver cells that is not caused by alcohol consumption. Excess hepatic fat accumulation results from increased delivery of triglycerides (TG) to the liver or conversion of surplus carbohydrates to TG. Importantly, a subgroup of NAFLD results in hepatocellular injury and inflammation, which is referred to as non-alcoholic steatohepatitis (NASH), and may progress to irreversible cirrhosis and hepatocellular carcinoma (HCC)...
November 23, 2016: Molecular Aspects of Medicine
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