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Jérôme Lejeune (1926-1994): A Pioneer in Uncovering the Connection Between Congenital Conditions and Chromosomal Anomalies.
Cureus
December 2024
Healthcare Surveillance and Bioethics, Università Cattolica del Sacro Cuore, Rome, ITA.
Jérôme Lejeune was a French physician and geneticist whose crucial contribution to the field of medicine was the discovery of an extra copy of chromosome 21 in those presenting with a range of physical and developmental anomalies known as Down syndrome. From this discovery on, the condition had a new name (trisomy 21) and a specific scientific explanation that left no room for discrimination against those affected and their parents. Lejeune promoted the idea that a medical doctor should hate the condition and love the patient: while working to find a cure for trisomy 21, Lejeune was also able to reassure his patients and their families and lead them out from under a long-standing stigma inflicted upon them.
View Article and Find Full Text PDFBreaking Down the Barriers for Patients With Cutaneous T-Cell Lymphoma: Current Controversies and Challenges for Radiation Oncologists in 2024.
Semin Radiat Oncol
January 2025
Department of Radiation Oncology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.; Department of Radiology, The University of Melbourne, Parkville, Victoria, Australia; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.
Cutaneous T-cell lymphomas (CTCL) are a rare collection of diseases, frequently associated with diagnostic challenges and complex management dilemmas. The multidisciplinary team is vital for accurate clinico-pathological diagnoses and for collaborative therapeutic decisions throughout the management journey, which frequently involves multiple lines of therapy. Radiotherapy (RT) is a highly effective skin-directed therapy for CTCL, commonly delivered as localised fields or as total skin electron beam therapy (TSEBT).
View Article and Find Full Text PDFQuantitative proteomics analysis reveals the pathogenesis of obstructed defecation syndrome caused by abnormal expression of dystrophin.
World J Gastroenterol
December 2024
Department of Colorectal and Anal Surgery (Clinical Center for Pelvic Floor Surgery), Clinical Center of Constipation and Pelvic Floor Disease of Wuhan, Hubei Key Laboratory of Intestinal and Colorectal Diseases, Clinical Center of Intestinal and Colorectal Diseases of Hubei Province, Quality Control Center of Colorectal and Anal Surgery of Health Commission of Hubei Province, Zhongnan Hospital of Wuhan University, Wuhan 430071, Hubei Province, China.
Background: Obstructed defecation syndrome (ODS) represents the most prevalent form of chronic constipation, affecting a diverse patient population, leading to numerous complications, and imposing a significant burden on healthcare resources. Most ODS patients have insufficient rectal propulsion, but the exact mechanism underlying the pathogenesis of ODS remains unclear.
Aim: To explore the molecular mechanism underlying the pathogenesis of ODS.
Atypical teratoid/rhabdoid tumor (ATRT) is an aggressive, malignant embryonal tumor with dismal long-term survival despite aggressive multimodal therapy. While this tumor typically presents in infancy or early childhood, there are published case reports of adult-onset ATRT. Making prognostic conclusions or therapeutic decisions for this older patient population remains challenging due to the paucity of these reports.
View Article and Find Full Text PDFBehind the Pain: Understanding and Treating Piriformis Syndrome.
Cureus
October 2024
Famiy Medicine, Sesaram, Funchal, PRT.
Article Synopsis
- - Piriformis syndrome (PS) is a condition where tension in the piriformis muscle compresses the sciatic nerve, leading to buttock pain and lower limb symptoms similar to sciatica.
- - A case study highlights a 62-year-old woman with PS who experienced left buttock pain and nerve-related sensations, but failed to respond to conservative treatments.
- - Diagnosing PS is challenging due to overlapping symptoms with other disorders; management combines clinical evaluation and imaging, with botulinum toxin injections being effective for resistant cases, prompting a call for more research on diagnostic criteria and treatment options.
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