Atrial fibrillation (AF) significantly increases the risk of stroke and heart failure, but is frequently asymptomatic and intermittent; therefore, its timely diagnosis poses challenges. Early detection in selected patients may aid in stroke prevention and mitigate structural heart complications through prompt intervention. Smartwatches, coupled with powerful artificial intelligence (AI)-enabled algorithms, offer a promising tool for early detection due to their widespread use, easiness of use, and potential cost-effectiveness.
View Article and Find Full Text PDFThis study investigated the impact of basketball-induced fatigue on 3-point jump shooting accuracy, the ball's entry angle (EA) into the hoop, shot release time (RT), their relationship with player positions in high-level basketball, and the correlation between cardiorespiratory fitness markers and potential shooting performance changes. Guards (n = 13), forwards (n = 13), and centers (n = 12) underwent physiological assessments. Sequentially, they performed 15 jump shots (PRE), a basketball exercise simulation (BEST) involving 24 × 30 s circuit activities, and a repeated shooting test (POST).
View Article and Find Full Text PDFThis review aims to provide a better understanding of the emerging role of mitophagy in glaucomatous neurodegeneration, which is the primary cause of irreversible blindness worldwide. Increasing evidence from genetic and other experimental studies suggests that mitophagy-related genes are implicated in the pathogenesis of glaucoma in various populations. The association between polymorphisms in these genes and increased risk of glaucoma is presented.
View Article and Find Full Text PDFJ Appl Lab Med
September 2021
Background: Although an obvious critical value in metabolic genetics would be ammonia, it is more challenging to define critical values in molecular genetics and cytogenetics. The objective of this study was to survey genetic laboratories in Ontario, Canada, to determine whether different centers considered similar results as critical and thus potentially deserving of a different reporting process.
Methods: An online 11-question survey was emailed to Ontario laboratory directors, and the results were analyzed.
Objective: This study evaluates the effects of chewing training on strength and endurance of the masticatory muscles.
Materials And Methods: Of the 49 healthy young adults included in the study, nine served as controls for a baseline measurement of bite force. The 40 participants who actively trained their masticatory muscles were randomly divided into a 'continuous training group' (CTG) and an 'intermittent training group' (ITG).
Cranio-maxillofacial malformations, as seen in Crouzon and Apert syndromes, may impose an immense distress on both function and aesthetics of the person affected. The aims of this study were to describe and compare the main facial and intraoral features of patients with Apert and Crouzon syndromes, the clinical manifestations that may be present, additionally to the main syndromic traits, as well as the cranio-maxillofacial surgical treatment protocols followed.Twenty-three patients with Apert syndrome (6 males, 17 females), and 28 patients with Crouzon syndrome (20 males, 8 females) were evaluated for general medical aspects, craniofacial characteristics, dentoalveolar traits before and after the final orthognathic surgery, and types and timing of cranio-maxillofacial operations.
View Article and Find Full Text PDFDental agenesis may either occur as an isolated trait (non-syndromic) or as a component in a congenital syndrome. The aim of the present study was to identify the prevalence of dental agenesis for each type of tooth and to look for dental agenesis patterns in persons with Apert syndrome. Serial panoramic radiographs of 23 individuals (five male patients and 18 female patients) were examined.
View Article and Find Full Text PDFDNA copy-number variations (CNVs) underlie many neuropsychiatric conditions, but they have been less studied in cancer. We report the association of a 17p13.1 CNV, childhood-onset developmental delay (DD), and cancer.
View Article and Find Full Text PDFBackground: Recent research has been focused on those attributes that appear to buffer a person against the stresses and strains of living with a visible difference.
Aim: To provide some insight on how young adults with Crouzon syndrome handle their life.
Design: Telephone interviews were carried out with eight Crouzon syndrome individuals (six males, two females, mean age 25.
Bilateral CLP interferes with both facial and dental development. Surgical and orthodontic treatments help in optimizing facial and dental appearance. In order to improve the quality of treatment one of the keys is to evaluate the physical outcome.
View Article and Find Full Text PDFOsteosarcomas are copy number alteration (CNA)-rich malignant bone tumors. Using microarrays, fluorescence in situ hybridization, and quantitative PCR, we characterize a focal region of chr3q13.31 (osteo3q13.
View Article and Find Full Text PDFDNA damage surveillance networks in human cells can activate DNA repair, cell cycle checkpoints and apoptosis in response to fewer than four double-strand breaks (DSBs) per genome. These same networks tolerate telomeres, in part because the protein TRF2 prevents recognition of telomeric ends as DSBs by facilitating their organization into T loops. We now show that TRF2 associates with photo-induced DSBs in nontelomeric DNA in human fibroblasts within 2 s of irradiation.
View Article and Find Full Text PDFTelomerase-negative immortalized human cells maintain telomeres by alternative lengthening of telomeres (ALT) pathway(s), which may involve homologous recombination. We find that endogenous BLM protein co-localizes with telomeric foci in ALT human cells but not telomerase positive immortal cell lines or primary cells. BLM interacts in vivo with the telomeric protein TRF2 in ALT cells, as detected by FRET and co-immunoprecipitation.
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