Genes, Vol. 11, Pages 765: Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies

Genes, Vol. 11, Pages 765: Cardiac Involvement in Dystrophin-Deficient Females: Current Understanding and Implications for the Treatment of Dystrophinopathies Genes doi: 10.3390/genes11070765 Authors: Kenji Rowel Q. Lim Narin Sheri Quynh Nguyen Toshifumi Yokota Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive condition caused primarily by out-of-frame mutations in the dystrophin gene. In males, DMD presents with progressive body-wide muscle deterioration, culminating in death as a result of cardiac or respiratory failure. A milder form of DMD exists, called Becker muscular dystrophy (BMD), which is typically caused by in-frame dystrophin gene mutations. It should be emphasized that DMD and BMD are not exclusive to males, as some female dystrophin mutation carriers do present with similar symptoms, generally at reduced levels of severity. Cardiac involvement in particular is a pressing concern among manifesting females, as it may develop into serious heart failure or could predispose them to certain risks during pregnancy or daily life activities. It is known that about 8% of carriers present with dilated cardiomyopathy, though it may vary from 0% to 16.7%, depending on if the carrier is classified as having DMD or BMD. Understanding the genetic and molecular mechanisms underlying cardiac manifestations in dystrophin-deficient females is therefore of critical importance. In this article, we review available information from the literature on this s...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research

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Publication date: Available online 3 August 2020Source: Stem Cell ResearchAuthor(s): K.R. Valetdinova, M.A. Maretina, Y.V. Vyatkin, M.P. Perepelkina, A.A. Egorova, V.S. Baranov, A.V. Kiselev, P.M. Gershovich, S.M. Zakian
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Authors: Becker L, Semmlinger L, Rohleder N Abstract Regular resistance training has been shown to have many physiological and psychological health benefits. However, the underlying physiological processes are not yet fully understood. One explanation is that resistance training acts like an acute stressor and modulates physiological pathways that are associated with the stress response such as the sympathetic nervous system (SNS), the parasympathetic nervous system (PNS), and the hypothalamic-pituitary-adrenal (HPA) axis. This was systematically investigated in our study. Participants were 45 healthy men who had b...
Source: Stress - Category: Research Tags: Stress Source Type: research
Authors: Hulse NC, Lee J, Benuzillo J Abstract In connection with a recent enterprise-wide rollout of a new electronic health record, Intermountain Healthcare is investing significant effort in building a central library of best-practice order sets. These order sets represent best practice guidelines for specific clinical scenarios and are deployed with the intent of standardizing care, reducing variation, and consistently delivering good clinical outcomes to the populations we serve. The importance of measuring their use and the level to which caregivers adhere to these standards becomes an important factor in und...
Source: AMIA Annual Symposium Proceedings - Category: Bioinformatics Tags: AMIA Annu Symp Proc Source Type: research
CONCLUSION: Kidney biopsy should be considered an important diagnostic tool in this clinical scenario. ABBREVIATIONS: ACE: angiotensin-converting enzyme; ESKD: end-stage kidney disease; FSGS: focal segmental glomerulosclerosis; RAAS: renin aldosterone angiotensin system. PMID: 32744913 [PubMed - as supplied by publisher]
Source: Hypertension in Pregnancy - Category: OBGYN Tags: Hypertens Pregnancy Source Type: research
CONCLUSION: Aberrant circadian pattern of BP in women with PE with severe features was associated with several adverse maternal/perinatal outcomes. PMID: 32744911 [PubMed - as supplied by publisher]
Source: Hypertension in Pregnancy - Category: OBGYN Tags: Hypertens Pregnancy Source Type: research
ConclusionAVeCI stages the degree of compensation of PVD patients and can serve to evaluate rehabilitation effects.
Source: European Archives of Oto-Rhino-Laryngology - Category: ENT & OMF Source Type: research
AbstractMedication use during pregnancy in the absence of pharmacokinetic and safety data is common, particularly for antiretrovirals, as pregnant women are not usually included in clinical trials leading to drug licensure. To date, data are typically generated through opportunistic pregnancy studies performed in the postmarketing setting, leading to a substantial time-lag between initial regulatory approval of a drug and availability of essential pregnancy-specific pharmacokinetic and safety data. During this period, health care providers lack key information on human placental transfer, fetal exposure, optimal maternal d...
Source: Clinical Pharmacokinetics - Category: Drugs & Pharmacology Source Type: research
Conclusions: Previous TORCH infections were not associated with adverse pregnancy and neonatal outcomes in IVF/ICSI-ET overall, and toxoplasmosis infection might be associated with a lower preterm birth rate in patients underwent IVF/ICSI-ET. The necessity of TORCH IgG screening in IVF procedure might need re-evaluation, and further cost-effective analysis might be helpful for the clinical management strategy.
Source: Frontiers in Endocrinology - Category: Endocrinology Source Type: research
In this study, we analyzed the genomic and transcription data of HF peripheral blood mononuclear cell (PBMC) samples obtained from the Gene Expression Omnibus data sets using Omicsbean online database (http://www.omicsbean.cn/) and found that the prostaglandin-endoperoxide synthase 2 (PTGS2), also named as cyclooxygenase-2 (COX-2), as well as its related micro RNAs including miR-1297 and miR-4649-3p might be used as potential biomarkers for non-ischemic heart failure. Our result showed that plasma COX-2 and miR-4649-3p were significantly up-regulated, whereas the plasma miR-1297 was significantly decreased, and miR-4649-3p...
Source: Frontiers in Pharmacology - Category: Drugs & Pharmacology Source Type: research
ConclusionBilateral fallopian tube torsion should be considered among the differential diagnoses in women presenting with acute pelvic pain.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
More News: Cardiology | Cardiomyopathy | Dilated Cardiomyopathy | Genetics | Heart | Heart Failure | Muscular Dystrophy | Pregnancy | Reflex Sympathetic Dystrophy | Respiratory Medicine | Study