We present clinical, genomic and epidemiological data on the first 106 cases with the SARS-CoV-2 B.1.1.7 variant in Madrid. Even from the start, the increase of this variant was due to transmission events within the community, some causing extensive clusters, rather than further imports. Most cases developed non-severe disease.
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http://dx.doi.org/10.1093/jtm/taab044 | DOI Listing |
Am J Respir Cell Mol Biol
January 2025
Ottawa Hospital Research Institute & CHEO Research Institute, Pediatrics, Ottawa, Ontario, Canada.
Surfactant protein-B (SP-B) deficiency is a lethal neonatal respiratory disease with few therapeutic options. Gene therapy using adeno-associated viruses (AAV) to deliver human cDNA (AAV-hSPB) can improve survival in a mouse model of SP-B deficiency. However, the effect of this gene therapy wanes.
View Article and Find Full Text PDFArch Dermatol Res
January 2025
Coloproctology Department, Longhua Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Background: Data from observational and clinical studies indicate an association between skin microbiota and hidradenitis suppurativa (HS). However, the causal relationship between skin microbiota and HS remains to be elucidated.
Methods: We obtained data on skin microbiota and HS from summary statistics of genome-wide association studies and applied Mendelian randomization (MR) statistical methods to assess causality.
Neurogenetics
January 2025
Department of Biomedical Science, Faculty of Medicine, University of Malaya, Kuala Lumpur, 50603, Malaysia.
Intermediate CAG repeats from 29 to 33 in the ATXN2 gene contributes to the risk of amyotrophic lateral sclerosis (ALS) in European and Asian populations. In this study, 148 ALS patients of multiethnic descent: Chinese (56.1%), Malay (24.
View Article and Find Full Text PDFJ Gastrointest Cancer
January 2025
Department of Gastrointestinal Medical Oncology, Oncoclínicas, Florianópolis, SC, Brazil.
Purpose: Pancreatic ductal adenocarcinoma (PDAC) is an aggressive malignancy with poor response to chemotherapy. High-frequency microsatellite instability (MSI-H) is a rare biological phenomenon in conventional PDAC, being more frequently described in tumors with medullary or mucinous features.
Methods And Results: In this manuscript, we report the case of a patient with an MSI-H pancreatic carcinoma with medullary features (medullary carcinoma of the pancreas-MCP) that achieved a complete pathological response after neoadjuvant modified FOLFIRINOX.
Curr Opin Psychiatry
December 2024
Departments of Psychiatry &, Behavioral Sciences and Pediatrics, University of Kansas Medical Centre, Kansas City, Kansas, United States.
Purpose Of Review: Prader-Willi (PWS) and Angelman (AS) syndromes arise from errors in 15q11-q13 imprinting. This review describes recent advances in genomics and how these expand our understanding of these rare disorders, guiding treatment strategies to improve patient outcomes.
Recent Findings: PWS features include severe infantile hypotonia, failure to thrive, hypogonadism, developmental delay, behavioral and psychiatric features, hyperphagia, and morbid obesity, if unmanaged.
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