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After 10 months, Alnylam still can't explain patient trial deaths

More than 10 months after disclosing that patients who received one of its experimental drugs in a late-stage trial had died at a far higher rate than those on placebo, Cambridge-based Alnylam Pharmaceuticals still cannot conclusively explain what went wrong. Alnylam (Nasdaq: ALNY) on Wednesday released the results of its investigation into the deaths of older patients with heart problems who took revusiran, a potential treatment for a deadly inherited disease called hATTR cardiomyopathy. In October,…
Source: bizjournals.com Health Care:Physician Practices headlines - Category: American Health Authors: Source Type: news

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We report the clinical, morphological and molecular features of two patients with autosomal recessive SLC25A4 (ANT1) gene mutations. Furthermore, all previously published cases are reviewed to identify valuable features for future diagnosis. Patients present a common phenotype with exercise intolerance, hyperlactatemia, and hypertrophic cardiomyopathy. Muscle biopsies show wide sub-sarcolemmal mitochondrial aggregates, and increased activities of all respiratory chain complexes. The phenotype of recessive SLC25A4 (ANT1) mutations although rare, is homogenous and easily recognizable and could help orientate the molecular an...
Source: Mitochondrion - Category: Biochemistry Source Type: research
AbstractDuchenne muscular dystrophy (DMD) is a rare, fatal X-linked disorder characterized by the lack of dystrophin, a key sarcolemma muscle protein.  Cardiac failure is a significant cause of death in DMD subjects. The purpose of our research was to identify potential cardiac serum biomarkers associated with DMD cardiomyopathy. This is an observational, case-controlled study using subjects from the CINRG DMD natural history study with cardiomyo pathy (ejection fraction (EF)
Source: Mammalian Genome - Category: Genetics & Stem Cells Source Type: research
Conclusions: Early experience suggests that SGB is associated with an acute reduction in the VA burden and offers potential promise for a broader use in high‐risk populations. Randomized controlled studies are needed to confirm safety and efficacy of this therapy.This article is protected by copyright. All rights reserved
Source: Journal of Cardiovascular Electrophysiology - Category: Cardiology Authors: Tags: ORIGINAL ARTICLE Source Type: research
ConclusionsSCSI induced reverse remodeling and angiogenesis, and improved LV function, allowing LVAD removal in two patients, although functional recovery failed to improve in the one non-responder, even with angiogenesis. SCSI is a promising regenerative therapy for DCM patients responsive to this strategy, even with LVAD assistance.
Source: Surgery Today - Category: Surgery Source Type: research
To verify that high thoracic epidural anesthesia (TEA) could reverse myocardial fibrosis in heart failure caused by dilated cardiomyopathy (DCM).
Source: Journal of Cardiothoracic and Vascular Anesthesia - Category: Anesthesiology Authors: Tags: Original Article Source Type: research
Conclusion Addition of Ivabradine to standard therapy in patients with DCM and symptomatic HF and targeting a heart rate <70/min improves symptoms, quality of life and various echocardiographic parameters.
Source: Indian Heart Journal - Category: Cardiology Source Type: research
Publication date: Available online 14 August 2017 Source:Indian Heart Journal Author(s): Kenan Yalta, Fatih Ucar, Mustafa Yilmaztepe, Cafer Zorkun
Source: Indian Heart Journal - Category: Cardiology Source Type: research
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease, involving changes in ventricular myocardial tissue and leading to fatal arrhythmias. Mutations in desmosomal genes are th...
Source: BMC Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Case report Source Type: research
We report two female siblings with novel compound heterozygous mutations in DOLK: c.951C>A (p.Tyr317Ter) and c.1558A>G (p.Thr520Ala). Both patients presented in the neonatal period with severe ichthyosis, unusual distal digital constrictions and dilated cardiomyopathy which resulted in death. Histology of the skin showed lipid droplet accumulation in the stratum corneum and keratinocytes, which suggests defective epidermal lipid metabolism. These patients represent an earlier and more severe form of DOLK‐CDG (CDG‐1m) with a striking presentation at birth that expands the known phenotypic spectrum.
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Conclusions Among extreme risk patients with severe AS, TAVR resulted in large initial health status benefits that were sustained through 3-year follow-up. Although late mortality was high in this population, these findings demonstrate that TAVR offers substantial and durable health status improvements for surviving patients.
Source: American Heart Journal - Category: Cardiology Source Type: research
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