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Unveiling a pathogenic gene variant in a Mexican family with Fanconi anemia through next‑generation sequencing.
Exp Ther Med
March 2025
Human Genetics Institute 'Dr Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México.
Fanconi anemia (FA) is the most common hereditary bone marrow failure syndrome, with an incidence of 1 in 5,000,000. This disease is caused by an alteration in one of the 23 genes associated with the FA/BRCA DNA repair pathway, which is responsible for repairing interstrand bridges generated during homologous recombination. FA has been associated with a predisposition to other types of neoplasm.
View Article and Find Full Text PDFHigh burden of abnormal cervical smears in South African primary health care: health programmes implications.
Health Promot Int
January 2025
School of Health Systems and Public Health, University of Pretoria, HW Snyman Building, Bophelo Road, Pretoria 0084, South Africa.
Cervical cancer is the second most common malignancy among South African women and the load of abnormal cervical smears has clinical, programmatic and policy implications. This cross-sectional study of women who presented for cervical cancer screening aimed to determine the prevalence of abnormal cervical smears and associated factors in primary health care (PHC) facilities in Gauteng-the most densely populated province in South Africa. A questionnaire collected data on socio-demography, tobacco use, sexual behaviours, HIV status, past treatment for sexually transmitted infections (STI) and cervical cancer screening in the past 10 years.
View Article and Find Full Text PDFPerformance of algorithms using wrist temperature for retrospective ovulation day estimate and next menses start day prediction: a prospective cohort study.
Hum Reprod
January 2025
Apple Inc. Health, Cupertino, CA, USA.
Study Question: Can algorithms using wrist temperature, available on compatible models of iPhone and Apple Watch, retrospectively estimate the day of ovulation and predict the next menses start day?
Summary Answer: Algorithms using wrist temperature can provide retrospective ovulation estimates and next menses start day predictions for individuals with typical or atypical cycle lengths.
What Is Known Already: Wrist skin temperature is affected by hormonal changes associated with the menstrual cycle and can be used to estimate the timing of cycle events.
Study Design, Size, Duration: We conducted a prospective cohort study of 262 menstruating females (899 menstrual cycles) aged 14 and older who logged their menses, performed urine LH testing to define day of ovulation, recorded daily basal body temperature (BBT), and collected overnight wrist temperature.
Molecular characterization of feline caliciviruses isolated from several adult cats with atypical infection showing severe flu-like symptoms on a remote island in Ehime, Japan.
Virus Res
January 2025
Department of Microbiology, Faculty of Veterinary Medicine, Okayama University of Science, Imabari, Ehime, Japan.
In November 2020, a volunteer group reported an outbreak of an infectious disease with a high fatality rate and flu-like symptoms among stray cats in Aoshima, a remote island in Ehime, Japan. Nine adult cats with severe symptoms were hospitalized. Feline calicivirus (FCV) was isolated from pharyngeal swabs of six hospitalized cats.
View Article and Find Full Text PDFUsing Anal Cytology and Human Papillomavirus DNA and E6/E7 mRNA Detection to Optimize High-Resolution Anoscopy Referrals in Men Who Have Sex With Men With HIV.
Open Forum Infect Dis
January 2025
HIV and STD Unit, Infectious Diseases Department, Bellvitge University Hospital/Bellvitge Biomedical Research Institute, L'Hospitalet de Llobregat, Barcelona, Spain.
Background: This study was conducted to evaluate screening procedures for anal high-grade squamous intraepithelial lesions (HSILs) with anal liquid-based cytology (aLBC) and biomarkers to identify candidates for high-resolution anoscopy (HRA).
Methods: This cross-sectional study included men who have sex with men with HIV. Participants underwent HRA, aLBC, and biomarker testing.
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