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| http://dx.doi.org/10.1055/s-0041-1736211 | DOI Listing |
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Background: Clinical Hereditary Hemolytic Anemia (HAA) particularly Hereditary Spherocytosis (HS) encompasses diverse genetic disorders causing premature red blood cell destruction and intrinsic RBC defects. There's a pressing need for standardized diagnostic protocols tailored to the Asian population, particularly in Saudi Arabia, underscoring the significance of thorough blood biochemistry analysis.
Materials And Methods: A case-control prospective study was conducted at King Abdulaziz University, samples were obtained from King Fahad, hospital Jeddah, Saudi Arabia, serving a significant population, and blood samples from 27 patients meeting ethical criteria for HHA and HS.
Label-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins.
Sci Rep
January 2025
Graduate Course in Medicine (Pathological Anatomy), Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration of skeletal muscles. These conditions often result from structural defects in the Dystrophin-Glycoprotein Complex (DGC), as seen in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets to improve patients' quality of life.
View Article and Find Full Text PDF[Analysis of Factors That Promote Awareness of Breast MRI Surveillance for Carriers of Hereditary Breast Cancer Risk Genes ( BRCA1/2)].
Nihon Hoshasen Gijutsu Gakkai Zasshi
January 2025
Department of Risk Analysis and Biodosimetry, Institute of Radiation Emergency Medicine, Hirosaki University.
Purpose: Hereditary breast and ovarian cancers (HBOC) carry a high risk of breast cancer, and detailed screening with contrast-enhanced breast MRI (breast MRI surveillance) is recommended. With the increase in the number of individuals diagnosed with HBOC, the demand for breast MRI surveillance is also rising. However, the current system is inadequate, with factors such as lack of knowledge and indifference among healthcare professionals, and insufficient understanding of breast MRI surveillance being cited.
View Article and Find Full Text PDFFactors associated with development of depression in adult patients with brain arteriovenous malformations.
Clin Neurol Neurosurg
January 2025
Department of Neurosurgery, Johns Hopkins University School of Medicine, MD, USA. Electronic address:
Objective: Cerebrovascular diseases are often associated with the development of depression, but few studies have assessed this association with brain arteriovenous malformations (bAVMs). We aim to explore the association of brain arteriovenous malformation(bAVM) with new onset depression at follow-up.
Methods: We performed a retrospective cohort study on adult bAVMs patients using an institutional bAVM database.
Systematic review and meta-analysis of pathogenic GJB2 variants in the Asian population.
Int J Pediatr Otorhinolaryngol
January 2025
Northeast Ohio Medical University College of Medicine, 4209 St, OH-44, Rootstown, OH, 44272, USA; HEARS, LLC, 632 E. Market St, Ste B, Akron, OH, 44304, USA. Electronic address:
Objectives: Define the extent to which pathogenic GJB2 (gap junction beta-2) variants are responsible for non-syndromic hearing loss (NSHL) in the Asian population.
Methods: Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines were followed. CINAHL, Embase, and PubMed's MEDLINE were accessed from 1997 to 2023 using permutations of the MeSH terms: "Asian," ''Southeast Asian,'' "South Asian," "East Asian," "Southeastern Asian," and "GJB2.
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