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http://dx.doi.org/10.1136/bcr-2020-241411 | DOI Listing |
Drugs
January 2025
Lysosomal Storage Disorders Unit, Royal Free London NHS Foundation Trust, University College London, London, NW3 2QG, UK.
Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders characterized by defects in the function of specific enzymes responsible for breaking down substrates within cellular organelles (lysosomes) essential for the processing of macromolecules. Undigested substrate accumulates within lysosomes, leading to cellular dysfunction, tissue damage, and clinical manifestations. Clinical features vary depending on the degree and type of enzyme deficiency, the type and extent of substrate accumulated, and the tissues affected.
View Article and Find Full Text PDFCurr Oncol Rep
January 2025
Radiation Oncology Department, General Regional Hospital "F.Miulli", Acquaviva Delle Fonti, Bari, Italy.
Purpose Of Review: Male breast cancer (MBC) is a rare entity which often arises in elderly people. Aim of this review is to evaluate the principal issues related to MBC in elderly, because the therapeutic management of disease is not only related to the biological behavior of the tumor, but also to the comorbidities and frailty of older population. A scoping literature review was performed on Pubmed and Cochrane Database using the following keywords: therapeutic management/ male/ breast cancer/ elderly patients.
View Article and Find Full Text PDFCardiovasc Toxicol
January 2025
RAK College of Medical Sciences, RAK Medical and Health Sciences University, Ras Al Khaimah, United Arab Emirates.
The rapid development and deployment of mRNA and non-mRNA COVID-19 vaccines have played a pivotal role in mitigating the global pandemic. Despite their success in reducing severe disease outcomes, emerging concerns about cardiovascular complications have raised questions regarding their safety. This systematic review critically evaluates the evidence on the cardiovascular effects of COVID-19 vaccines, assessing both their protective and adverse impacts, while considering the challenges posed by the limited availability of randomized controlled trial (RCT) data on these rare adverse events.
View Article and Find Full Text PDFArch Dermatol Res
January 2025
Department of Dermatology and Venereal Diseases, Dr. Lütfi Kırdar City Hospital, Istanbul, Turkey.
Vulvar lichen planus (VLP) is a rare mucocutaneous disorder with significant impacts on quality of life and a potential risk of malignancy. Comprehensive data on its clinical features and treatment outcomes remain limited. To analyze the demographic and clinical characteristics of patients diagnosed with VLP and to evaluate the efficacy of current therapeutic approaches.
View Article and Find Full Text PDFArch Dermatol Res
January 2025
Premier Dermatology, Ashburn, VA, USA.
Pilomatrix carcinoma (PC) is a rare malignant adnexal tumor originating from follicular matrix cells primarily impacting Caucasian males. This review provides a comprehensive analysis of scientific literature on PC through an exploration of 206 cases reported between 1980 and 2024. We discuss the epidemiology, clinical presentation, histopathology, and diagnostic challenges of PC, and explore various treatment methods for this rare malignancy as well as their associated outcomes.
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