Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency

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

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Mike Grey four years ago sold Lumena Pharmaceuticals Inc. — including two drugs targeting liver diseases — to Shire plc. On Friday, his new Peninsula company filed for an $86.25 million initial public offering to take those same two drugs deeper into the clinical trials. Mirum Pharmaceuticals Inc., a 24-employee company in Foster City, said in a Secu rities and Exchange Commission filing that it expects to use the money to complete a late-stage clinical trial of the drug maralixibat and start…
Source: Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news
DR JASON WELLEN (St Louis, MO): Dr Cannon and colleagues have presented a retrospective analysis of United Network for Organ Sharing (UNOS) data comparing the outcomes of kidney transplantation, after a simultaneous liver kidney transplantation (SLK), compared with a matched cohort of kidney transplants. They used UNOS data between 2003 and 2012 in order to incorporate the changes to the Model for End-Stage Liver Disease (MELD) allocation. Their manuscript sought to illustrate the potential lost life years of kidney allografts that are being transplanted as SLKs.
Source: Journal of the American College of Surgeons - Category: Surgery Tags: Western surgical association article Source Type: research
(Elsevier) According to a new study in the American Journal of Preventive Medicine, published by Elsevier, United States Veterans seeking treatment for posttraumatic stress disorder (PTSD) are at increased risk of death compared with the general population. Veterans with PTSD are twice as likely to die from suicide, accidental injury, and viral hepatitis than the general population. Veterans with PTSD are also more likely to die from diabetes and chronic liver disease than the general population.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
We studied the effects of dipeptidyl peptidase 4 (DPP4) inhibitor linagliptin on the expression of apoptosis regulator proteins Bcl-2 and Bad in the liver ofdb/db mice with genetically determined obesity and type 2 diabetes mellitus. The mice received daily linagliptin or saline (placebo) by gavage from week 10 to week 18 of life. In the liver of non-treated mice, the area positively stained for Bad was greater than the area of Bcl-2 expression, which created the conditions for apoptosis activation in liver at this age. Administration of linagliptin decreased Bad stained area and increased Bcl-2 stained area in the liver c...
Source: Bulletin of Experimental Biology and Medicine - Category: Biology Source Type: research
Objectives: Our objective was to test the hypothesis that children with end-stage chronic liver disease (ESCLD) are hypermetabolic when compared to healthy children, and that this hypermetabolism persists for at least 6 months after liver transplant. Methods: Seventeen patients with end-stage chronic liver disease and 14 healthy controls had their resting energy expenditure measured (mREE) by indirect calorimetry. Weight, height, and body mass index were converted to standard deviation (SD) scores. Children older than 5 years had air displacement plethysmography and patients older than 5 years also had whole body dual...
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Original Articles: Hepatology Source Type: research
Publication date: Available online 21 June 2019Source: Nutrition, Metabolism and Cardiovascular DiseasesAuthor(s): M.L. Erickson, J.M. Haus, S.K. Malin, C.A. Flask, A.J. McCullogh, J.P. KirwanAbstractBackground and aimsNonalcoholic fatty liver disease (NAFLD) is characterized by excessive hepatic fat accumulation. Increased hepatic saturated fats and decreased hepatic polyunsaturated fats may be particularly lipotoxic, contributing to metabolic dysfunction. We compared hepatic lipid subspecies in adults with and without NAFLD, and examined links with hallmark metabolic and clinical characteristics of NAFLD.Methods and resu...
Source: Nutrition, Metabolism and Cardiovascular Diseases - Category: Nutrition Source Type: research
Conclusions: RDW is significantly increased in HBeAg+ CHB patients and patients with HBV-related hepatocirrhosis and could reflect their severity. RDW could help to distinguish hepatocirrhosis from CHB patients and inactive HBV carriers. PMID: 31217740 [PubMed - in process]
Source: International Journal of Medical Sciences - Category: Biomedical Science Tags: Int J Med Sci Source Type: research
In this study, an integrated approach based on 16S rRNA gene sequencing combined with high-performance liquid chromatography-mass spectrometry (HPLC-MS) metabolic profiling was performed to assess the effects of YCHT on liver injury induced by carbon tetrachloride (CCl4) through the regulation of the relative abundances of gut microbiota and their relationships with biomarker candidates. A total of twelve significantly altered bacterial genera and nine metabolites were identified, which returned to normal levels after YCHT treatment. The relative abundances of the identified microbiota, including significantly elevated amo...
Source: Journal of Pharmaceutical and Biomedical Analysis - Category: Drugs & Pharmacology Source Type: research
Publication date: September 2019Source: Biomedicine &Pharmacotherapy, Volume 117Author(s): Zhe Ma, Bing Zhang, Yuqi Fan, Meng Wang, Dereje Kebebe, Jiawei Li, Zhidong LiuAbstractLiver diseases are clinically common and present a substantial public health issue. Many of the currently available drugs for the treatment of liver diseases suffer from limitations that include low hepatic distribution, lack of target effects, poor in vivo stability and adverse effects on other organs. Consequently, conventional treatment of hepatic diseases is ineffective. TCM is commonly used in the treatment of liver diseases worldwide, part...
Source: Biomedicine and Pharmacotherapy - Category: Drugs & Pharmacology Source Type: research
Authors: Zhang H, Bai Y, Gao M, Zhang J, Dong G, Yan F, Ma Q, Fu X, Zhang Q, Li C, Shi H, Ning Z, Dai J, Li Z, Ming J, Xue Q, Si C, Xiong H Abstract Immune-mediated liver injury plays a crucial role in the pathogenesis of liver diseases, which can result from viral infections, autoimmunity, alcohol intake, and drug use. Concanavalin A (Con A)-induced hepatitis is a well-characterized murine model with similar pathophysiology to that of human viral and autoimmune hepatitis. Capsaicin, a selective agonist of the transient potential vanilloid subfamily member 1 (TRPV1) receptor, exhibits anti-inflammatory effects on v...
Source: American Journal of Translational Research - Category: Research Tags: Am J Transl Res Source Type: research
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