Results 81 to 90 of about 159,117 (304)

Statin-associated muscle symptoms (SAMS) in primary prevention for cardiovascular disease in older adults:A protocol for a systematic review and meta-analysis of randomised controlled trials [PDF]

open access: yes, 2017
IntroductionAlthough statins are commonly used for prevention of cardiovascular disease, there is limited evidence about statin-related adverse effects in older people. Statin-related adverse events (AEs), especially the statin-associated muscle symptoms
Albarqouni, Loai   +4 more
core   +1 more source

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios   +9 more
wiley   +1 more source

Predictors of survival in a cohort of patients with polymyositis and dermatomyositis: effect of corticosteroids, methotrexate and azathioprine [PDF]

open access: yes, 2012
Introduction: The idiopathic inflammatory myopathies are rare diseases for which data regarding the natural history, response to therapies and factors affecting mortality are needed.
Crofford, Leslie J.   +4 more
core   +3 more sources

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr   +5 more
wiley   +1 more source

Small heat-shock proteins: important players in regulating cellular proteostasis [PDF]

open access: yes, 2015
Small heat-shock proteins (sHsps) are a diverse family of intra-cellular molecular chaperone proteins that play a critical role in mitigating and preventing protein aggregation under stress conditions such as elevated temperature, oxidation and infection.
Carver, John A.   +3 more
core   +1 more source

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta   +9 more
wiley   +1 more source

STATINS AND MYOPATHY: MOLECULAR MECHANISMS

open access: yesРациональная фармакотерапия в кардиологии, 2015
The safety of statin therapy is considered. In particular the reasons of a complication such as myopathy are discussed in detail. The molecular mechanisms of statin myopathy , as well as its risk factors are presented.
O. M. Drapkina   +2 more
doaj   +3 more sources

A study on the management of corticosteroid side effects in cancer patients [PDF]

open access: yes, 2015
Background Systemic corticosteroids lead to many adverse effects especially in cancer patients. Preventive measures and treatment options are essential to minimise such side effects.
Fsadni, Clayton John
core  

Feline Hypertrophic Cardiomyopathy: A Spontaneous Large Animal Model of Human HCM. [PDF]

open access: yes, 2017
Hypertrophic cardiomyopathy (HCM) is a common disease in pet cats, affecting 10-15% of the pet cat population. The similarity to human HCM, the rapid progression of disease, and the defined and readily determined endpoints of feline HCM make it an ...
Freeman, Lisa M   +4 more
core   +2 more sources

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta   +17 more
wiley   +1 more source

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