The epidemiology of West Nile virus (WNV) in Israel is different from other neighbouring countries in the Middle East where disease burden has been minimal. We analysed a cohort of Ashkenazi Jewish patients with symptomatic WNV infection (n = 39), and WNV-negative controls (n = 61), for nine genetic variants that has been suggested to be associated with susceptibility to WNV. Two single nucleotide polymorphisms were significantly more frequent in WNV-infected than non-infected individuals, rs7280422 (MX1) [odds ratio (OR) 4·05, 95% confidence interval (CI) 2·04-8·03, P < 0·001] and rs3213545 (OASL) (OR 1·85, 95% CI 1·03-3·3, P = 0·03). Genetic polymorphism may play a significant role in susceptibility to WNV infection in Ashkenazi Jews.
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http://dx.doi.org/10.1017/S0950268814001290 | DOI Listing |
Braz J Psychiatry
January 2025
Research Center in Spirituality and Health (NUPES), School of Medicine, Federal University of Juiz de Fora (UFJF), Juiz de Fora, MG, Brazil.
Objective: There has been a call for neuroscientific studies of spiritual experiences due to their global prevalence, significant impact, and importance for understanding the mind-brain problem. Mediumship is a spiritual experience where individuals claim to communicate with or be influenced by deceased persons or non-material entities. We assessed whether mediums possess specific genetic alterations.
View Article and Find Full Text PDFAsian Pac J Cancer Prev
January 2025
Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan, Iran.
Background: LIN28, a highly conserved RNA-binding protein, regulate a wide variety of post-transcriptional cellular processes. The current study aimed to identify genetic variants of five single nucleotide polymorphisms (SNPs) in the LIN28B gene (rs221634, rs22163, rs314276, rs9404590, and rs12194974) and their association with Breast cancer.
Method: 220 patients and 230 controls were genotyped by the RFLP assay for Lin28B gene variants.
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 PDFClin Rev Allergy Immunol
January 2025
Department of Neonatal Surgery, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Gastrointestinal Defects and Immunodeficiency Syndrome-1 (GIDID-1), caused by abnormalities in TTC7A, is an autosomal recessive disorder characterized by multiple gastrointestinal malformations and immune deficiencies, often accompanied by inflammatory bowel disease (IBD). This condition typically results in poor treatment outcomes and is usually fatal in early infancy. This paper examined the genetic abnormalities and clinical features of GIDID by analyzing data from three children and one fetus with gastrointestinal dysfunction and immune deficiency associated with TTC7A abnormalities at our hospital, and reviewed reported cases worldwide.
View Article and Find Full Text PDFJNCI Cancer Spectr
January 2025
Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
Li-Fraumeni syndrome is a cancer predisposition syndrome caused by pathogenic TP53 germline variants and associated with a high lifelong cancer risk. We analysed the German LFS registry that contains data on 304 individuals. Cancer phenotypes were correlated with variants grouped according to their ability to transactivate target genes in a yeast assay using a traditional (non-functional, partially-functional) and a novel (clusters A, B, C) classification of variants into different groups.
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