Genetic sequencing uncovers causes for mysterious liver disease in adults

A Yale study leads the way to explore the genetics of unexplained liver disease in adults — which accounts for up to 30% of cases.
Source: Yale Science and Health News - Category: Universities & Medical Training Source Type: news

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In conclusion, FGF21 belongs to a promising class of cytokines that are induced in response to stress and that can be used as a drug, drug target, or through a biomarker, depending on the physio-pathological context. All these findings will become clear when FGF21 will be used as a therapeutic molecule, exploiting the beneficial effects of FGF21 for treating metabolic disease or when it will be blocked to ameliorate disease progression and the onset of disease. Author Contributions CT and MS wrote the manuscript. VR contributed to the discussion. Funding This work was supported from the AFM-Telethon (19524), Italian Mi...
Source: Frontiers in Physiology - Category: Physiology Source Type: research
Even before much of the world last year found out about Daphne Koller's machine-learning-driven drug development company, she was invited to speak to Gilead Sciences Inc. scientists. The ensuing conversations have led Koller's Insitro to formally work with Gilead to find new targets for drugs to attack one of the hottest areas in drug development. The companies disclosed the three-year deal Tuesday morning. Insitro will receive $15 million upfront, plus "near-term" milestone payments up to $35 million…
Source: bizjournals.com Health Care:Biotechnology headlines - Category: Biotechnology Authors: Source Type: news
DiscussionVLCAD deficiency can be identified by neonatal screening. Most patients compliant with therapy normalized biochemical parameters and had no major clinical manifestations. Complications were completely prevented with a relatively low number of pre-emptive ER visits or hospital admissions. It remains unclear whether neonatal screening is now identifying less severely affected patient or if complications will arise as subjects become older. Observation beyond puberty is necessary to fully understand the impact of VLCAD deficiency on morbidity in patients with VLCAD deficiency.
Source: Molecular Genetics and Metabolism - Category: Genetics & Stem Cells Source Type: research
Gilead Sciences Inc said on Tuesday it will partner with privately held insitro to develop therapies for a fatty liver disease called non-alcoholic steatohepatitis (NASH), as the drugmaker tries to overcome its recent setback in developing NASH treatments.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
The prevalence and outcomes of non-alcoholic fatty liver disease (NAFLD) among elderly have not been well described. Our aim was to assess the prevalence, risk factors and mortality of NAFLD in individuals old...
Source: BMC Gastroenterology - Category: Gastroenterology Authors: Tags: Research article Source Type: research
To the Editor Dr Wilder et al described a patient treated and cured of HCV who subsequently underwent VCTE to restage his liver disease. Vibration-controlled transient elastography or routine monitoring of fibrosis regression is not currently recommended after HCV cure.
Source: JAMA - Category: General Medicine Source Type: research
AbstractHepatitis C treatment has rapidly evolved with the arrival of direct-acting antiviral therapy. Sustained virologic response (SVR) rates in clinical trials are high but it is unknown how this translates to the immigrant community. Data from December 2013 to September 2015 was collected from a Midwest academic and community practice with a large immigrant population. There were 802 patients with an overall SVR rate of 88%. Ledipasvir/sofosbuvir was associated with favorable response among genotype 1 and 4 patients compared to other regimens (p  
Source: Journal of Immigrant and Minority Health - Category: International Medicine & Public Health Source Type: research
In this study we compared the gut microbial communities of children with PKU and with mild hyperphenylalaninemia (MHP, unrestricted diet). For each group, we enrolled 21 children (4–18 years old), for a total dataset of 42 subjects. We assessed dietary intake and performed gut microbiota analysis by sequencing the V3–V4 hypervariable regions of the 16S rRNA gene. Short chain fatty acids (SCFAs) were quantified by gas chromatographic analysis. While alpha-diversity analysis showed no significant differences between PKU and MHP groups, microbial community analysis highlighted a significant separation of the gut m...
Source: Frontiers in cellular and infection microbiology - Category: Microbiology Source Type: research
Conclusions: The lipidome is altered in ART-treated HIV infection, and may contribute to inflammation and CVD progression. Detailed lipidomic analyses may better assess CVD risk in both HIV+ and HIV– individuals than does traditional lipid profiling. Introduction Both HIV infection and the use of antiretroviral therapy (ART) contribute to an increased risk for cardiovascular disease (CVD) (1, 2). Dyslipidemia is observed in HIV-infected (HIV+) individuals, and is associated with reduced levels of high-density lipoprotein (HDL) cholesterol, and elevated total (TC) cholesterol, low-density lipoprotein (LDL) chole...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Conclusion As a critical regulator of inflammation and cell survival, the NFκB pathway is a promising target for diagnosing and treating kidney diseases. For modulation of the NFκB pathway in the clinic, a number of molecules can effectively inhibit NFκB signaling by targeting the receptors, associated adaptors, IKKs, IκBs and transcriptional regulators (144). There is further clinical evidence on small-molecule inhibitors of IKKα and NIK from recent trials on anti-cancer therapies (145). These clinical trials showed that the cancer-selective pharmacodynamic response of DTP3, the co-inhibitor...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
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