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http://dx.doi.org/10.1056/NEJMc2213457 | DOI Listing |
Public Health Rep
September 2025
Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Objective: Rare diseases collectively affect approximately 30 million people in the United States. Despite advances in genomic medicine, early diagnosis is challenging because of limited awareness of, accessibility to, and disparities in health care resources. We assessed the real-world experiences of patients with rare diseases in Pennsylvania and evaluated the effect of delayed diagnosis on psychosocial and financial burdens.
View Article and Find Full Text PDFAnn Surg Oncol
September 2025
Department of Surgery, Komfo Anoyke Teaching Hospital, Kumasi, Ghana.
The International Center for the Study of Breast Cancer Subtypes (ICSBCS) has played a vital role in defining and overcoming many inequities that exist in breast cancer treatment and outcome on a global basis through capacity-building programs that improve the management of breast cancer patients across the African diaspora. ICSBCS activities also fill critical gaps in disparities research related to the genetics of ancestry. Over the past 20 years, ICSBCS teams have spearheaded landmark studies documenting the relevance of genetic African ancestry to breast cancer risk, while also improving the quality of care delivered to patients in diverse communities.
View Article and Find Full Text PDFJ Cyst Fibros
September 2025
Division of Paediatric Pulmonology; University of Cape Town, South Africa; Red Cross War Memorial Children's Hospital, Cape Town, South Africa.
Background: Cystic fibrosis (CF) is a genetic disorder that remains underrecognized across Africa, where limited diagnostic capacity, low awareness, and competing health priorities contribute to delayed or missed diagnoses [1-4]. Although increasing data suggests CF is more prevalent than previously believed in Africa, survival remains poor [1]. These challenges do not only affect people with CF (pwCF) in Africa but also have implications for global understanding of the disease, particularly among populations historically excluded from CF research and treatment advances.
View Article and Find Full Text PDFInt J Biol Macromol
September 2025
Protein Research Department, Genetic Engineering and Biotechnology Research Institute (GEBRI), City of Scientific Research and Technological Applications (SRTA-City), New Borg El-Arab, Alexandria, 21934, Egypt. Electronic address:
The growing demand for sustainable agriculture imposes innovative biocontrol strategies to mitigate phytopathogen threats while reducing dependence on chemical pesticides. This review explores the current knowledge on enzyme-based biocontrol, focusing on hydrolytic enzymes (e.g.
View Article and Find Full Text PDFCancer Med
September 2025
Department of Medicine, University of Chicago, Chicago, Illinois, USA.
Background: Cisplatin is a commonly used chemotherapeutic across numerous cancer types that can cause neurotoxicities in patients, including peripheral sensory neuropathy, tinnitus, hearing loss, and vertigo.
Objective: We aimed to evaluate, for the first time, how genetic ancestry impacts cisplatin-induced neurotoxicities and if disparities are related to population differences in allele frequency.
Methods: In a cohort of cisplatin-treated testicular cancer survivors, relationships between genetic ancestry and neurotoxicities, medications, and lifestyle factors were assessed using logistic regression and Kruskal-Wallis tests and multiple pairwise comparisons using the Wilcoxon rank-sum test (Benjamini-Hochberg adjustment).