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http://dx.doi.org/10.1002/ppul.26776 | DOI Listing |
Orphanet J Rare Dis
January 2025
Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Únicas SJD Center, Hospital Sant Joan de Déu, Barcelona, Spain.
Background: Rare diseases (RDs) are a heterogeneous group of complex and low-prevalence conditions in which the time to establish a definitive diagnosis is often too long. In addition, for most RDs, few to no treatments are available and it is often difficult to find a specialized care team.
Objectives: The project "acERca las enfermedades raras" (in English: "bringing RDs closer") is an initiative primary designed to generate a consensus by a multidisciplinary group of experts to detect the strengths and weaknesses in the public healthcare system concerning the comprehensive care of persons living with a RD (PLWRD) in the region of Catalonia, Spain, where a Network of Clinical Expert Units (Xarxa d'Unitats de Expertesa Clínica or XUEC) was created and is being implemented since 2015.
BMJ Case Rep
January 2025
Department of Rheumatology, US Department of Veterans Affairs, Fresno, California, USA.
Castleman's disease (CD), also called angiofollicular lymphoid hyperplasia, is a rare lymphoproliferative illness with two unique variants: unicentric disease and multicentric disease (MCD). The multicentric variant is rare and presents as a systemic illness with symptoms like peripheral lymphadenopathy, splenomegaly, anaemia and systemic inflammatory symptoms. Given the vague and systemic presentation, this variant can be difficult to differentiate from infection and other autoimmune diseases.
View Article and Find Full Text PDFInt J Surg Case Rep
January 2025
Department of Vascular Surgery, Royal Perth Hospital, Perth 6000, Australia; University of Western Australia, School of Surgery, Perth 6000, Australia. Electronic address:
Introduction: We present a unique case of acute aortic occlusion secondary to infective endocarditis (IE).
Presentation Of Case: An Aboriginal Australian woman with systemic lupus erythematosus presented with fever, confusion, tachycardia, and tachypnoea and had cold, pulseless, insensate, and paralysed lower limbs. Computed tomography angiography revealed multifocal occlusion of the distal aorta and lower limb vessels.
Int J Surg Case Rep
January 2025
School of postgraduate, Amoud University, Somalia; Faculty of Science, Charles University, Czechia. Electronic address:
Introduction: Giant inguinoscrotal hernias (GIH), defined as hernias extending below the inner thigh midpoint in a standing position, are rare and often seen in resource-limited settings due to delayed medical care. These hernias pose surgical challenges, particularly in low- and middle-income countries (LMICs), where standardized management protocols are lacking, and risks such as cardiorespiratory compromise are significant.
Case Presentation: A 55-year-old male presented with a large, irreducible right inguinoscrotal hernia of 1.
J Craniofac Surg
January 2025
School of Medical Imaging, Hangzhou Medical College, Hangzhou, China.
Thalamic hemorrhage is a type of intracerebral hemorrhage with high disability and mortality rates. Because of its deep bleeding location, irregular shape of the hematoma, and compression of the third ventricle, it is not suitable for craniotomy. This paper reports a case of a 63-year-old male patient who sought medical attention for left-sided basal ganglia and thalamus hemorrhage that broke into the ventricles.
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