A pedigree from Hazaribagh District of Bihar (india) with 12 stammerers spread over five generations was analysed for the mode of inheritance of stuttering. A predisposition seems to be a prerequisite for its occurrence. The relative roles of heredity an environment in the expression of stammering were evaluated. Transmission appears to be by a dominant autosomal. Variable expressivity, incomplete penetrance as well as partial sex-limitation as other causes have also been considered.
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Pancreatology
December 2024
Department of Surgery, University of California Los Angeles, Los Angeles, CA, USA. Electronic address:
Background/objectives: Genetic variants in PRSS1 encoding human cationic trypsinogen are associated with hereditary pancreatitis. The clinically frequent variants exert their pathogenic effect by increasing intrapancreatic trypsin activity, while a distinct subset of variants causes disease via mutation-induced trypsinogen misfolding and endoplasmic reticulum (ER) stress. Here, we report a novel misfolding PRSS1 variant.
View Article and Find Full Text PDFCurr Issues Mol Biol
December 2024
Department of Clinical Oncology, School of Medicine, Yamagata University, 2-2-2 Iida-Nishi, Yamagata 990-9585, Japan.
Epidermal growth factor receptor (EGFR) inhibition is crucial in treating RAS wild-type metastatic colorectal cancer, yet current testing methods may miss rare RAS variants affecting treatment efficacy. We analyzed 4122 colorectal cancer patients receiving anti-EGFR antibodies from the Center for Cancer Genomics and Advanced Therapeutics database, identifying 54 patients (1.3%) with rare RAS variants undetectable by standard testing.
View Article and Find Full Text PDFIndian J Psychol Med
December 2024
Dept. of Mental Health and Community Nursing, Faculty of Medicine, Public Health, and Nursing Universitas Gadjah Mada, Yogyakarta, Indonesia.
Background: Mental health literacy among lay community health workers (CHWs) is crucial to ensuring that mental health services are accessible to all. This research explores the mental health literacy of community health workers in Indonesia.
Methods: A cross-sectional study was carried out among 454 female community health workers from various villages.
Background Sickle cell disease (SCD) is a hereditary disorder marked by abnormal hemoglobin (HbS), leading to chronic hemolytic anemia, vaso-occlusive crises (VOCs), and multi-organ complications. In India, the prevalence of SCD is highest among tribal populations in states like Madhya Pradesh, Maharashtra, Odisha, and Assam, with the disease burden exacerbated by limited healthcare access, especially in rural regions. This study provides a comprehensive analysis of the demographic profile, clinical features, and treatment patterns of SCD patients at a tertiary healthcare center in Upper Assam, where the prevalence of SCD is high among the tea tribe communities.
View Article and Find Full Text PDFTumori
December 2024
Hereditary Digestive Tract Tumors Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Background: Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.
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