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Congenital Factor VII Deficiency: A Case Study of Four Family Members.
Cureus
December 2024
Hematology, Avicenna Military Hospital, Marrakesh, MAR.
Congenital factor VII (FVII) deficiency is a rare genetic disorder with autosomal recessive inheritance, characterized by molecular and clinical heterogeneity. This article reports four Moroccan cases of FVII deficiency within the same family, two of which were associated with Gilbert's syndrome. The index case was a 15-year-old girl with a history of menorrhagia and jaundice.
View Article and Find Full Text PDFUltrathin bronchoscopy-guided small airway biopsy for diagnosing sarcoidosis: A prospective study.
Pulmonology
December 2025
Department of Cardiovascular and Pulmonary Sciences, Catholic University of the Sacred Hearth, Rome, Italy.
New ultrathin bronchoscopes (UTBs) enable the inspection and biopsy of small airways, potentially offering diagnostic advantages in sarcoidosis. In this prospective study, patients with suspected sarcoidosis underwent airway inspection with a UTB. Observed airway abnormalities were categorised into six predefined patterns.
View Article and Find Full Text PDFCardiac sarcoidosis; update for the heart failure specialist.
Curr Opin Cardiol
January 2025
Division of Cardiology, University of Ottawa Heart Institute, University of Ottawa, Faculty of Medicine, Tier 1 Clinical Research Chair in Cardiac Electrophysiology, Ottawa, ON, Canada.
Purpose Of Review: This review presents contemporary data on epidemiology, common presentations, investigations and diagnostic algorithms, treatment and prognosis. It particularly focuses on topics of most relevance to heart failure specialists, including what left ventricle (LV) function changes can be expected after treatment and outcomes to all standard and advanced heart failure therapies.
Recent Findings: Around 5% of sarcoidosis patients have clinically manifest cardiac sarcoidosis (CS), presenting with significant arrhythmias (such as conduction disturbances and ventricular arrhythmias) or newly developed unexplained heart failure.
Prevalence, incidence, and clinical features of cardiac involvement in patients with pulmonary sarcoidosis.
Respir Med
January 2025
Department of Respiratory Medicine, Faculty of Medicine, Hokkaido University, Sapporo, Japan.
Background: The epidemiology and characteristics of cardiac involvement in patients with pulmonary sarcoidosis remain unclear. We aimed to determine the prevalence, incidence, and clinical features of cardiac sarcoidosis in patients with pulmonary sarcoidosis.
Methods: The characteristics of patients with biopsy-proven pulmonary sarcoidosis were retrospectively evaluated.
European ILD registry algorithm for self-assessment in interstitial lung diseases (eurILDreg ASA-ILD).
PLoS One
January 2025
European IPF/ILD Registry and Biobank (eurIPFreg/bank, eurILDreg/bank), Giessen, Germany.
Background And Aims: Predicting progression and prognosis in Interstitial Lung Diseases (ILD), especially Idiopathic Pulmonary Fibrosis (IPF) and Progressive Pulmonary Fibrosis (PPF), remains a challenge. Integrating patient-centered measurements is essential for earlier and safer detection of disease progression. Home monitoring through e-health technologies, such as spirometry and oximetry connected to smartphone applications, holds promise for early detection of ILD progression or acute exacerbations, enabling timely therapeutic interventions.
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