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Docetaxel-induced severe neuropathy, a case of breast cancer with GTSP1 polymorphism.
J Oncol Pharm Pract
August 2024
Bakırköy Dr. Sadi Konuk Research and training Hospital, Department of Medical Oncology, Istanbul, Turkey.
Introduction: Breast cancer, the most prevalent cancer among women, often requires chemotherapy with docetaxel being a key agent. However, docetaxel-inducted peripheral neuropathy (DIPN) can adversely impact patients' quality of life. This case discusses an unusual instance of severe DIPN leading to wheelchair dependence in a 35-years old woman undergoing neoadjuvant treatment for locally advanced breast cancer.
View Article and Find Full Text PDFGenetic profiles of multiple system atrophy revealed by exome sequencing, long-read sequencing and spinocerebellar ataxia repeat expansion analysis.
Eur J Neurol
December 2024
Department of Neurology, Xuanwu Hospital of Capital Medical University, National Clinical Research Centre for Geriatric Diseases, Beijing, China.
Article Synopsis
- * Researchers sequenced the exomes of 205 MSA patients and discovered a new harmful variant in the COQ2 gene in one familial case, along with several pathogenic variants in sporadic cases that suggest a genetic link to cerebellar ataxia.
- * The study identified a significant association between a specific variant in the PARK7 gene and MSA, as well as gene expansions related to cerebellar ataxia in some patients, pointing to a greater genetic complexity in the disease.
Clinical, genetic, and neuroimaging profiles of autosomal recessive spinocerebellar ataxia type 4 caused by novel VPS13D variants in Chinese.
Am J Med Genet A
December 2024
Department of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, Beijing, China.
Autosomal recessive spinocerebellar ataxias (SCARs) are a heterogeneous group of neurodegenerative disorders. VPS13D gene is currently the only gene associated with autosomal recessive spinocerebellar ataxia type 4 (SCAR4), also known as VPS13D dyskinesia. SCAR4 is a rare inherited disease, with only 34 reported cases reported worldwide.
View Article and Find Full Text PDFCase report: A germline leads to a splicing error in a family with multiple cancer patients.
Front Oncol
April 2024
Department of Gynecology and Obstetrics, The First Affiliated Hospital of Soochow University, Suzhou, China.
Background: Genome instability plays a crucial role in promoting tumor development. Germline mutations in genes responsible for DNA repair are often associated with familial cancer syndromes. A noticeable exception is the gene.
View Article and Find Full Text PDFAn Atypical Incontinentia Pigmenti Female with Persistent Mucocutaneous Hyperinflammation and Immunodeficiency Caused by a Novel Germline IKBKG Missense Mutation.
J Clin Immunol
November 2023
Laboratory of Tumor Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China.
While most missense mutations of the IKBKG gene typically result in Ectodermal Dysplasia with Immunodeficiency, there have been rare reported instances of missense mutations of the IKBKG gene causing both Incontinentia Pigmenti (IP) and immunodeficiency in female patients. In this study, we described an atypical IP case in a 19-year-old girl, characterized by hyperpigmented and verrucous skin areas over the entire body. Remarkably, she experienced recurrent red papules whenever she had a feverish upper respiratory tract infection.
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