Objective: To investigate the familial correlations and intraclass correlation of age-related hearing impairment (ARHI) in specific frequencies. In addition, heritability estimates were calculated.
Study Design: Multicenter survey in 8 European centers.
Subjects: One hundred ninety-eight families consisting of 952 family members, screened by otologic examination and structured interviews. Subjects with general conditions, known to affect hearing thresholds or known otologic cause were excluded from the study.
Results: We detected familial correlation coefficients of 0.36, 0.37, 0.36, and 0.30 for 0.25, 0.5, 1, and 2 kHz, respectively, and correlation coefficients of 0.20 and 0.18 for 4 and 8 kHz, respectively. Variance components analyses showed that the proportion of the total variance attributable to family differences was between 0.32 and 0.40 for 0.25, 0.5, 1, and 2 kHz and below 0.20 for 4 and 8 kHz. When testing for homogeneity between sib pair types, we observed a larger familial correlation between female than male subjects. Heritability estimates ranged between 0.79 and 0.36 across the frequencies.
Discussion: Our results indicate that there is a substantial shared familial effect in ARHI. We found that familial aggregation of ARHI is markedly higher in the low frequencies and that there is a trend toward higher familial aggregation in female compared with male subjects.
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http://dx.doi.org/10.1097/MAO.0b013e318288646a | DOI Listing |
J Biol Chem
January 2025
Genomics Research Center, Academia Sinica, Taipei, Taiwan; Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Yang Ming Chiao Tung University and Academia Sinica, Taipei, Taiwan; Department of Biochemical Science and Technology, National Taiwan University, Taipei, Taiwan; Chemical Biology and Molecular Biophysics Program, Taiwan International Graduate Program, Institute of Biological Chemistry, Academia Sinica; Institute of Biochemical Sciences, National Taiwan University; Taiwan International Graduate Program in Interdisciplinary Neuroscience, National Taiwan University and Academia Sinica, Taipei, Taiwan. Electronic address:
Tauopathies cover a range of neurodegenerative diseases in which natively unfolded tau protein aggregates and spreads in the brain during disease progression. To gain insights into the mechanism of tau structure and spreading, here, we examined the biochemical and cellular properties of human full-length wild-type and familial mutant tau, ΔK280, with a deletion at lysine 280. Our results showed that both wild-type and mutant tau are predominantly monomeric by analytical ultracentrifugation.
View Article and Find Full Text PDFRev Gaucha Enferm
January 2025
RISE - Rede de Investigação em Saúde. Porto, Portugal.
Objective: To map the literature on the use of exergames in the rehabilitation of school-age children with brain tumors, in any context.
Method: Scoping review protocol developed using the recommendations of the Joanna Briggs Institute. The search will include aggregators, databases, indexes, repositories, and research browsers, without limitation as to the year of publication.
Sci Adv
January 2025
New Cornerstone Science Laboratory, CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety & CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology of China, Beijing 100190, China.
Deep brain stimulation technology enables the neural modulation with precise spatial control but requires permanent implantation of conduits. Here, we describe a photothermal wireless deep brain stimulation nanosystem capable of eliminating α-synuclein aggregates and restoring degenerated dopamine neurons in the substantia nigra to treat Parkinson's disease. This nanosystem (ATB NPs) consists of gold nanoshell, an antibody against the heat-sensitive transient receptor potential vanilloid family member 1 (TRPV1), and β-synuclein (β-syn) peptides with a near infrared-responsive linker.
View Article and Find Full Text PDFBMJ Open
January 2025
Department of Population, Family and Reproductive Health, Johns Hopkins University Bloomberg School of Public Health, Baltimore, Maryland, USA.
Objectives: Intimate partner violence (IPV) threatens women's health and safety. Support services can mitigate the impact, yet few survivors seek services in part due to social norms that discourage use. Little agreement exists on how to measure norms and attitudes related to IPV help-seeking.
View Article and Find Full Text PDFNeuropsychobiology
January 2025
Introduction: Bipolar 2 disorder (BD2) is an independent disease with specific familial aggregation, significant functional impairment, specific treatment challenges and several distinctive clinical features. However, unlike bipolar 1 disorder, studies investigating causal and functional genes are lacking. This study aims to identify and prioritize causal genetic variants and genes for BD2 by analyzing brain-specific gene expression markers, to improve the understanding of its genetic underpinnings and support advancements in diagnosis, treatment and prognosis.
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