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| http://dx.doi.org/10.1007/s40620-023-01728-3 | DOI Listing |
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Reconsidering the Diagnosis: Abnormal Sweat Chloride Tests in Non-CF Bronchiectasis.
Pediatr Pulmonol
January 2025
Department of Internal Medicine, Division of Pulmonary and Critical Care, University of Virginia, Charlottesville, Virginia, USA.
Introduction: While the diagnosis of cystic fibrosis (CF) is often straightforward and reliant on correlation between genetic testing and clinical signs and symptoms, there is a subset where the distinction is not nearly as clearcut. This has previously been reported in patients identified through newborn screening but not meeting full CF diagnostic criteria, earning the label of CF Screen Positive, Inconclusive Diagnosis (CFSPID) instead. A homologous diagnostic category in adults is named CF Transmembrane Conductance Regulator-Related Disorder (CFTR-RD).
View Article and Find Full Text PDFBackground: Bronchial cysts (BCs) can be difficult to diagnose because of non-specific site of occurrence and heterogeneous density of cyst content in some patients. We present herein a BC case with such nonspecific findings.
Case: A 23-year-old man referred to our hospital because of an abnormal chest image during a mass-screening.
Misdiagnosis and analysis of clinical characteristics in patients with giant cystic pheochromocytoma/paraganglioma.
Discov Oncol
December 2024
Department of Endocrinology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Introduction: Although giant cystic pheochromocytoma and paraganglioma (PPGL) are uncommon, they can be life-threatening when it occurs. Unfortunately, prior case reports have shown that giant cystic PPGLs are highly susceptible to diagnostic errors. Therefore, this study aimed to explore giant cystic PPGLs by comparing them with non-cystic PPGLs, defining the clinical features of the affected patients, and analyzing the characteristics of misdiagnosis and mistreatment associated with PPGLs.
View Article and Find Full Text PDFA rare case of hydatid cyst presenting as a breast cancer. A case report.
Int J Surg Case Rep
December 2024
Debre Markos University, Surgery Department, Ethiopia. Electronic address:
Article Synopsis
- Hydatid disease, caused by the Echinococcus parasite, is a serious health issue in endemic areas, and breast involvement is notably rare; this case involves a 34-year-old Ethiopian woman initially misdiagnosed with breast cancer.
- The patient presented with a painless swelling in her left breast that persisted for nine months, without symptoms typically associated with cancer, such as discharge or skin changes.
- Diagnostic imaging and tests ultimately confirmed that the mass was a hydatid cyst, highlighting the need for healthcare professionals to consider less common conditions in their diagnosis of breast masses in endemic regions.
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Am J Kidney Dis
December 2024
Service de Néphrologie, Hémodialyse et Transplantation Rénale, Centre de référence MARHEA, CHRU Brest, Brest, France; Institut de Recherche Expérimentale et Clinique (IREC), UCLouvain, Brussels, Belgium. Electronic address:
Rationale & Objective: Monoallelic predicted Loss-of-Function (pLoF) variants in IFT140 have recently been associated with an autosomal dominant polycystic kidney disease (ADPKD)-like phenotype. This study sought to enhance the characterization of this phenotype.
Study Design: Case series.
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