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A case of Li-Fraumeni syndrome caused by a 3.6 kb deletion in the TP53 gene suggested by additional data from the NCC Oncopanel.
Jpn J Clin Oncol
January 2025
Division of Molecular and Cellular Oncology, Miyagi Cancer Center Research Institute, 47-1 Nodayama, Medeshima-Shiode, Natori, Miyagi 981-1293, Japan.
A Japanese woman with Li-Fraumeni syndrome in her 40s underwent comprehensive genetic profiling accompanied by germline data using the Oncoguide NCC Oncopanel, but no germline pathogenic variants in the tumor suppressor gene TP53 were detected. However, careful examination of additional data in the report suggested the presence of a large TP53 deletion. Custom targeting next-generation sequencing and nanopore sequencing revealed a 3.
View Article and Find Full Text PDFForest Fragmentation and Warmer Climate Increase Tick-Borne Disease Infection.
Ecohealth
January 2025
Forestry and Forest Products Research Institute, Matsunosato 1, Tsukuba, Ibaraki, 305-8687, Japan.
Anthropogenic disturbances degrade ecosystems, elevating the risk of emerging infectious diseases from wildlife. However, the key environmental factors for preventing tick-borne disease infection in relation to host species, landscape components, and climate conditions remain unknown. This study focuses on identifying crucial environmental factors contributing to the outbreak of severe fever with thrombocytopenia syndrome (SFTS), a tick-borne disease, in Miyazaki Prefecture, southern Japan.
View Article and Find Full Text PDFThe causal association between cardiovascular proteins and diabetic nephropathy: a Mendelian randomization study.
Int Urol Nephrol
January 2025
Department of Nephrology, Jiangxi Medical College, The Second Affiliated Hospital, Nanchang University, Nanchang, Jiangxi, China.
Purpose: To clarify the causal association between cardiovascular proteins and diabetic nephropathy (DN) in Europeans.
Methods: The large genome-wide association study data of cardiovascular proteins and DN were used for this two-sample Mendelian randomization (MR) analysis. We took the Inverse variance weighted (IVW) as the primary method.
Chronic kidney disease-mineral and bone disorder: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Kidney Int
January 2025
Laboratório de Fisiopatologia Renal (LIM 16), Nephrology Department, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HCFMUSP), Universidade de São Paulo, São Paulo, Brazil. Electronic address:
In 2017, Kidney Disease: Improving Global Outcomes (KDIGO) published a Clinical Practice Guideline Update for the Diagnosis, Evaluation, Prevention, and Treatment of Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD). Since then, new lines of evidence have been published related to evaluating disordered mineral metabolism and bone quality and turnover, identifying and inhibiting vascular calcification, targeting vitamin D levels, and regulating parathyroid hormone. For an in-depth consideration of the new insights, in October 2023, KDIGO held a Controversies Conference on CKD-MBD: Progress and Knowledge Gaps Toward Personalizing Care.
View Article and Find Full Text PDFBeyond hearing: the impact of Cochlear implantation on the quality of life of users and their communication partners after 1 year.
Int J Audiol
January 2025
Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.
Objective: To assess the impact of cochlear implantation (CI) and speech perception outcomes on the quality of life (QoL) of adult CI users and their communication partners (CP) one-year post-implantation.
Design: This research is part of a prospective multicenter study in The Netherlands, called SMILE (Societal Merit of Intervention for hearing Loss Evaluation).
Study Sample: Eighty adult CI users completed speech perception testing and the Nijmegen Cochear Implant Questionnaire (NCIQ).
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