Three males--aged 32, 35, and 27 years--presented Young's syndrome: a combination of obstructive azoospermia and chronic sinopulmonary infection. The evaluation of nasal mucociliary transport using an isotopic technique revealed mucociliary stasis in one case and decreased clearance in the others (< 2 mm/min). Ciliary ultrastructure was normal in two patients, while the other showed mucous hyperplasia and low ciliary density which made correct ciliary evaluation not possible. The clinical development of this syndrome is chronic, although less severe than in the other two syndromes that exhibit primary failure of mucociliary transport: cystic fibrosis and primary ciliary dyskinesia. Young's syndrome should be considered in the differential diagnosis of patients suffering from chronic rhinosinusitis, particularly with cystic fibrosis and primary ciliary dyskinesia syndrome.
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Matrix Biol
December 2024
Department of Biomedical Engineering, Rutgers University - New Brunswick, Piscataway, New Jersey 08854. Electronic address:
Vascular Ehlers-Danlos syndrome (vEDS) arises from mutations in collagen-III, a major structural component of the extracellular matrix (ECM) in vascularized tissues, including blood vessels. Fibrillar collagens form a triple-helix that is characterized by a canonical (Gly-X-Y)n sequence. The substitution of another amino acid for Gly within this conserved repeating sequence is associated with several hereditary connective tissue disorders, including vEDS.
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November 2024
Department of Medicine, University of California, Los Angeles; Los Angeles, CA 90095, USA.
Hutchinson-Gilford progeria syndrome (HGPS) is a progeroid disorder characterized by multiple aging-like phenotypes, including disease in large arteries. HGPS is caused by an internally truncated prelamin A (progerin) that cannot undergo the ZMPSTE24-mediated processing step that converts farnesyl-prelamin A to mature lamin A; consequently, progerin retains a carboxyl-terminal farnesyl lipid anchor. In cultured cells, progerin and full-length farnesyl-prelamin A (produced in cells) form an abnormal nuclear lamin meshwork accompanied by nuclear membrane ruptures and cell death; however, these proteins differ in their capacity to cause arterial disease.
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January 2025
Department of Radiology, Alfred Hospital, Melbourne, Victoria, Australia.
Clin Exp Med
September 2024
Departments of Ultrasound, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
The aim of this study is to investigate salivary gland involvement in patients with anti-centromere antibody (ACA)-positive primary Sjögren's syndrome (pSS). We retrospectively evaluated 134 patients with pSS. Patients were divided into four groups based on the results of ACA and SSA antibodies.
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October 2024
Beirne B. Carter Center for Immunology Research, University of Virginia, Charlottesville, VA, USA.
The long-term physiological consequences of respiratory viral infections, particularly in the aftermath of the COVID-19 pandemic-termed post-acute sequelae of SARS-CoV-2 (PASC)-are rapidly evolving into a major public health concern. While the cellular and molecular aetiologies of these sequelae are poorly defined, increasing evidence implicates abnormal immune responses and/or impaired organ recovery after infection. However, the precise mechanisms that link these processes in the context of PASC remain unclear.
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