98%
921
2 minutes
20
Accumulating evidence suggests that individuals with sarcomeric hypertrophic cardiomyopathy (HCM) carrying mutations may have a worse prognosis than mutation carriers. Myocardial deformation analysis is superior to standard echocardiography in detecting subtle myocardial dysfunction and scar formation, but studies evaluating the association with HCM genotype are scarce. We therefore aimed to compare myocardial strain parameters between and mutation carriers with proven HCM. Participants of the prospective Graz HCM Registry carrying at least one causative mutation in ( = 39) or ( = 18) were enrolled. mutation carriers were older, predominantly male and more often treated with an implantable cardioverter-defibrillator (39% vs. 0%; = 0.002). Using analyses of covariance, there were no significant differences between and mutation carriers with regard to left ventricular global longitudinal strain (estimated marginal means ± standard deviation: -16.9 ± 0.6% vs. -17.3 ± 0.9%; = 0.807) and right ventricular 6-segments endocardial strain (-24.3 ± 1.0% vs. 26.3 ± 1.5%; = 0.285). Our study suggests, that myocardial deformation analysis may not be helpful in concluding on the underlying HCM genotype, and vice versa.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535960 | PMC |
http://dx.doi.org/10.3390/genes12101469 | DOI Listing |
Mol Genet Genomic Med
September 2025
Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada.
Background: Human chimerism is rare, and most prevalent with discordant chromosomal sex. We report a male 46,XY/46,XY chimera, born through a spontaneously conceived pregnancy to a healthy 32-year-old G1P0 Indian, African, and Scottish female and her 34-year-old healthy Chinese partner. The prenatal presentation and postnatal outcomes are described.
View Article and Find Full Text PDFSleep Med Clin
September 2025
Department of Neurology, National Neuroscience Institute, Singapore 308433, Singapore; Signature Research Program in Neuroscience and Behavioral Disorders, Duke-NUS Medical School, 8 College Road, Singapore 169857, Singapore; Neuroscience Academic Clinical Program, Duke-NUS Medical School, Singapore
Sleep dysfunction in Parkinson's disease (PD) includes rapid eye movement sleep behavior disorder, restless leg syndrome, and excessive daytime sleepiness. These sleep-related manifestations may serve as prodromal signs of PD, particularly in carriers of pathogenic mutations in the genes implicated in familial and sporadic forms of PD. Study findings underscore the importance of differentiating mutation-specific sleep phenotypes in PD.
View Article and Find Full Text PDFCurr Treat Options Oncol
September 2025
Division of Gynecologic Oncology, Department of Surgery, City of Hope National Medical Center, Duarte, CA, USA.
Ovarian cancer, particularly high-grade serous carcinoma (HGSC), remains a leading cause of mortality in gynecologic oncology. Emerging research identifies serous tubal intraepithelial carcinoma (STIC) as a precursor lesion in many HGSC cases, highlighting its role in ovarian cancer pathogenesis and prevention. Management of STIC is challenging, as there is only limited data available to guide clinical decision-making.
View Article and Find Full Text PDFFam Cancer
September 2025
Ambry Genetics, 1 Enterprise, Aliso Viejo, CA, 92656, USA.
Pathogenic variants in the APC gene are classically associated with autosomal dominant familial adenomatous polyposis (FAP), characterized by tens-to-thousands of colonic adenomatous polyps and a high-penetrance predisposition to colorectal cancer. More recently, specific PVs in the YY1 binding motif of APC promoter 1B have been associated with autosomal dominant gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS), characterized by tens-to-thousands of fundic gland polyps and a predisposition to gastric cancer but which are only rarely associated with features consistent with FAP. Although management guidelines currently treat FAP and GAPPS as mutually exclusive conditions, the extent of phenotypic overlap is not well-characterized.
View Article and Find Full Text PDFHum Mol Genet
September 2025
Department of Neurology, MassGeneral Institute for Neurodegenerative Disease (MIND), Massachusetts General Hospital, 114 16th Street, Charlestown, MA 02129, United States.
A de novo mutation in the transcription factor Nucleus accumbens associated protein 1 (NACC1) gene (c.892C > T p.R298W) causes a rare, severe neurodevelopmental disorder which manifests postnatally.
View Article and Find Full Text PDF