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| http://dx.doi.org/10.1136/bmj.317.7161.795 | DOI Listing |
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Transthyretin-Related Familial Amyloidosis Polyneuropathy with Spinal Cord Damage: A Case Report.
Int Med Case Rep J
January 2025
Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang Cerebrovascular Disease (Stroke) Clinical Medical Research Center, Regional Medical Center for Neurological Diseases of Henan Province, Luoyang, People's Republic of China.
Introduction: Transthyretin protein-related familial amyloidosis polyneuropathy (TTR-FAP) is an autosomal dominant genetic disease caused by mutations in the TTR gene. The disease is characterized primarily by peripheral and autonomic nerve damage. Disease progression is associated with frequent involvement of the heart, lungs, kidneys, eyes, and other organs.
View Article and Find Full Text PDFLiver Disease Complicating Familial Mediterranean Fever: A Study on 66 Patients Out of 533 Adult From the JIR Cohort.
Liver Int
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Sorbonne Université, Service Médecine Interne, Centre de référence des maladies autoinflammatoires et des amyloses (CEREMAIA), Assistance Publique des hôpitaux de Paris, Hôpital Tenon, Paris, France.
Background: Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease, associated with MEFV mutations. FMF patients can experience liver involvement, potentially leading to cirrhosis.
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Late-onset CSF1R-related Disorder: A Case Report.
Cogn Behav Neurol
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Department of TCM Internal Medicine, Ganzhou Nankang Hospital of Traditional Chinese Medicine, Ganzhou, China.
CSF1R-related disorder, a catastrophic neurodegenerative disease, arises from genetic mutations in the colony-stimulating CSF1R. Initial misdiagnosis is common, as demonstrated by this case involving a 52-year-old female who presented with symptoms of limb numbness and weakness. Differential diagnosis first indicated Parkinsonism, lacunar infarction, and cervical spondylosis.
View Article and Find Full Text PDFPercutaneous closure of a traumatic ventricular septal defect: a case report and literature review.
Int J Emerg Med
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Departamento de Cardiología, Fundación Valle del Lili, Carrera 98 No. 18 - 49, Cali, 760032, Colombia.
Background: Penetrating cardiac trauma is an entity with high pre and intrahospital mortality due to complications such as cardiac tamponade and massive hemothorax. A ventricular septal defect (VSD) occurs in 1-5% of cases and can present early or late. The management strategy for VSD resulting from penetrating cardiac trauma is uncertain.
View Article and Find Full Text PDFTrends in the epidemiology of intravascular device-associated bacteremia among French hematology patients: insights from the SPIADI prospective multicenter study, 2020-2024.
Ann Hematol
January 2025
Mission Nationale Surveillance et Prévention des Infections Associées aux Dispositifs Invasifs (SPIADI), Centre d'Appui pour la Prévention des Infections Associées aux Soins en région Centre val de Loire, Centre Hospitalier Régional Universitaire, Hôpital Bretonneau, Tours, France.
Hematology patients require central venous catheters for cancer treatment and nutrition, which increases their risk of intravascular device-associated bacteremia. In the absence of recent data, we investigated intravascular device-associated bacteremia in this specific context. A three-month surveillance was conducted annually in 27 hematology wards, using a protocol derived from the HAI-Net ICU ECDC protocol (2020-2024).
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