In the child population in the district of Dolný Kubín the authors screened during a five-year period children with a suspect genetic aetiology of affections. They examined a total of 1058 children, i.e. 2.34% of the child population in the district. The results were compared with a control group of children examined as a result of previous screening. From their work ensues: 1. 2.34% children aged 0-14 years have indications for genetic examination. 2. The method of an active approach to screening of genetic pathology is ten times more effective than the hitherto used method of detection.
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JAMA Netw Open
January 2025
Laboratory of NeuroImaging, National Institute on Alcohol Abuse and Alcoholism, Bethesda, Maryland.
Importance: Cannabis use has increased globally, but its effects on brain function are not fully known, highlighting the need to better determine recent and long-term brain activation outcomes of cannabis use.
Objective: To examine the association of lifetime history of heavy cannabis use and recent cannabis use with brain activation across a range of brain functions in a large sample of young adults in the US.
Design, Setting, And Participants: This cross-sectional study used data (2017 release) from the Human Connectome Project (collected between August 2012 and 2015).
Asian Pac J Cancer Prev
January 2025
Nitte (Deemed to be University), Nitte University Centre for Science Education and Research (NUCSER), Division of Molecular Genetics and Cancer, Mangaluru, Karnataka, India.
Background: Oral cancer screening programs can aid in the early identification of potentially malignant oral lesions. The objective of the present study was to evaluate the effectiveness of the Oral Rub and Rinse (ORR) technique as an oral cancer screening tool and to test its potential in detecting genetic alterations in exfoliated cells obtained through ORR.
Methods: The screening programs were conducted in rural Dakshina Kannada and Udupi districts in Karnataka.
Intern Emerg Med
January 2025
Unit of Internal Medicine and Clinical Oncology "G. Baccelli", Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari Aldo Moro Medical School, Bari, Italy.
Inborn errors of immunity (IEI) entail a diverse group of disorders resulting from hereditary or de novo mutations in single genes, leading to immune dysregulation. This study explores the clinical utility of next-generation sequencing (NGS) techniques in diagnosing monogenic immune defects. Eight patients attending the immunodeficiency clinic and with unclassified antibody deficiency were included in the analysis.
View Article and Find Full Text PDFJ Integr Plant Biol
January 2025
Key Laboratory of National Forestry and Grassland Administration on Plant Conservation and Utilization in Southern China & Guangdong Provincial Key Laboratory of Applied Botany, South China Botanical Garden, Chinese Academy of Sciences, Guangzhou, 510650, China.
Reactive oxygen species (ROS) plays critical roles in modulating plant growth and stress response and its homeostasis is fine tuned using multiple peroxidases. HO, a major kind of ROS, is removed rapidly and directly using three catalases, CAT1, CAT2, and CAT3, in Arabidopsis. Although the activity regulations of catalases have been well studied, their degradation pathway is less clear.
View Article and Find Full Text PDFMol Divers
January 2025
Department of Biochemistry, University of Delhi South Campus, Benito Juarez Road, Dhaula Kuan, New Delhi, 110021, India.
Nanobodies or variable antigen-binding domains (VH) derived from heavy chain-only antibodies (HcAb) occurring in the Camelidae family offer certain superior physicochemical characteristics like enhanced stability, solubility, and low immunogenicity compared to conventional antibodies. Their efficient antigen-binding capabilities make them a preferred choice for next-generation small biologics. In the present work, we design an anti-SARS-CoV-2 bi-paratopic nanobody drug conjugate by screening a nanobody database.
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