Background: The incidence and potential disease impact of paranasal sinus anatomic variants in patients with recurrent acute rhinosinusitis (RARS) has important implications for management, including surgery, but is incompletely defined.
Methods: A retrospective review of 26 patients with RARS who had undergone computed tomography (CT) was performed. Patient demographics, RARS severity and comorbidities were reviewed. CT scans were reviewed for the incidence of anatomic variants in all patients. The pattern of inflammatory changes was explored in the subset of patients with acute rhinosinusitis at the time of CT. Potential correlation between the presence of anatomic variants and disease severity were investigated.
Results: In the patient cohort who met inclusion criteria, the most common variants included agger nasi cell (88.5%), concha bullosa (53.8%), infraorbital cell (50%), and deviated nasal septum with middle meatus obstruction (42%). In exploring correlations with RARS severity, type 2 frontal cells correlated with a greater number of years with RARS (0.0363). In the 23 patients who underwent CT at the time of an acute infection, no statistically significant correlation was found between severity or location of inflammatory changes and the presence of anatomic variants.
Conclusion: This study describes the incidence of anatomic variants in a cohort of patients with RARS. A correlation between the presence of anatomic variants and the pattern of inflammatory changes was not identified.
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http://dx.doi.org/10.1002/alr.21658 | DOI Listing |
Gene
January 2025
Pediatric Department, University Hospital "Mother Teresa", Tirana, Albania. Electronic address:
White-Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder caused by heterozygous variants in the POGZ gene. With slightly over 100 reported cases, the diagnosis of WHSUS remains challenging due to its variable and non-specific clinical features. We report a novel case of WHSUS carrying a heterozygous de novo variant in the POGZ gene and with characteristic clinical features including global developmental delay, autism spectrum disorder, generalised myoclonic epilepsy, hypotonia and distinct dysmorphic features.
View Article and Find Full Text PDFMol Ther Oncol
December 2024
Maimonides Institute for Biomedical Research of Cordoba (IMIBIC), 14004 Cordoba, Spain.
Prostate cancer (PCa) is the second most common cancer among men worldwide. The main screening tool remains the prostate-specific antigen (PSA), which shows significant limitations, including poor sensitivity/specificity. Therefore, establishing accurate non-invasive diagnostic biomarkers remains an unmet clinical need in PCa.
View Article and Find Full Text PDFJ Stomatol Oral Maxillofac Surg
January 2025
Stomatology Faculty, Kabul University of Medical Sciences, Kabul, Afghanistan.
Introduction: Ranulas are mucous cysts that arise from the sublingual gland due to ductal obstruction or trauma. Plunging ranulas, a rare variant, extend into the neck and often present diagnostic challenges. Definitive surgical management is necessary to prevent recurrence and ensure successful outcomes.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-Higashi, Kodaira, Tokyo, 187-8502, Japan.
Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.
View Article and Find Full Text PDFJ Cardiothorac Surg
January 2025
Department of Pediatric Cardiothoracic Surgery, Akron Children's Hospital, Akron, OH, USA.
Background: Pulmonary artery sling (PAS) is a rare congenital anomaly where the left pulmonary artery (LPA) branches from the right pulmonary artery, compressing the trachea and esophagus and frequently leading to respiratory distress in infants. Surgical intervention, such as LPA reimplantation or translocation, is crucial to relieve airway compression and restore normal pulmonary function.
Case Presentation: This report highlights varied LPA anatomies, including a unique case of an anomalous LPA without true sling formation but causing tracheal compression, alongside two typical PAS cases.
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