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VEXAS, Chediak-Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
Cell Mol Biol Lett
January 2025
University Cote d'Azur, Inserm, C3M, Nice, France.
Vacuolization of hematopoietic precursors cells is a common future of several otherwise non-related clinical settings such as VEXAS, Chediak-Higashi syndrome and Danon disease. Although these disorders have a priori nothing to do with one other from a clinical point of view, all share abnormal vacuolization in different cell types including cells of the erythroid/myeloid lineage that is likely the consequence of moderate to drastic dysfunctions in the ubiquitin proteasome system and/or the endo-lysosomal pathway. Indeed, the genes affected in these three diseases UBA1, LYST or LAMP2 are known to be direct or indirect regulators of lysosome trafficking and function and/or of different modes of autophagy.
View Article and Find Full Text PDFRecovery process of patients with iliac vein compression syndrome after stenting: a grounded theory study.
BMC Cardiovasc Disord
January 2025
School of Nursing and Midwifery, Griffith University, Southport, QLD 4215, Australia.
Background: Iliac vein compression syndrome (IVCS) impedes venous blood return from the lower extremities due to iliac vein compression, manifesting as leg swelling, varicose veins, and thrombosis. These symptoms significantly degrade quality of life. Although iliac vein stenting provides symptomatic relief, the recovery process is protracted and fraught with challenges such as in-stent restenosis and psychological distress.
View Article and Find Full Text PDFPrenatal ultrasound for the diagnosis of the cerebellar abnormalities: a meta-analysis.
J Matern Fetal Neonatal Med
December 2025
Department of Ultrasound, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China.
Objective: Fetal cerebellar abnormalities are associated with neurodevelopmental disorders and structural brain malformations. Accurate and early diagnosis is crucial for prenatal counseling and planning postnatal interventions. While prenatal ultrasound is a key tool for detecting fetal brain abnormalities, variations in diagnostic accuracy across studies necessitate a systematic evaluation of its effectiveness in diagnosing cerebellar abnormalities.
View Article and Find Full Text PDFJejunal Artery Aneurysm Exclusion With Immediate Vascular Reconstruction: A Case Report.
Port J Card Thorac Vasc Surg
January 2025
Angiology and Vascular Surgery, Unidade Local de Saúde de São João; Surgery and Physiology, Faculdade de Medicina da Universidade do Porto, Portugal.
A 44 year-old previously healthy woman presented a persistent epigastric pain. Computed tomography revealed a saccular aneurysm with a diameter of 25x20 mm in the first jejunal artery and also a stenosis in the celiac trunk associated with median arcuate ligament syndrome, turning the hepatic perfusion dependent of the gastroduodenal artery flow. Through a midline laparotomy, celiac axis was exposed, and median arcuate ligament released for median arcuate ligament syndrome treatment.
View Article and Find Full Text PDFMini Atrial Septal Defect Closure In Dextrocardia With Situs Inversus By Left Anterolateral Thoracotomy(Lalt) Approach - A Surgical Challenge.
Port J Card Thorac Vasc Surg
January 2025
Department of Cardiovascular & Thoracic Surgery, U. N. Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat, India.
Background: ASD is a relatively rare subset among patients with situs inversus dextrocardia with concordant AV connection and a minimally invasive approach in dextrocardia has yet to be standardized. The present case describes a case surgical closure of ostium secundum ASD by left mini-thoracotomy approach in patient with dextrocardia and situs inversus.
Case Presentation: The present case describes a 44-year female patient of ostium secundum ASD in dextrocardia with situs inversus.
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