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http://dx.doi.org/10.1038/s41387-022-00183-6 | DOI Listing |
JACC Case Rep
September 2025
Department of Cardiology, Monaldi Hospital, Naples, Italy. Electronic address:
Background: Pulmonary hypertension is a contraindication to correction of tricuspid regurgitation.
Case Summary: A 75-year-old Italian woman with previous episodes of right heart failure was diagnosed with World Health Organization (WHO) functional class IV pulmonary arterial hypertension (PAH) complicated by torrential tricuspid regurgitation. After 6 months of treatment with diuretic agents, macitentan, and tadalafil, she improved to WHO functional class III, with a pulmonary vascular resistance (PVR) decreasing from 5.
Public Health Rep
September 2025
Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Objective: Rare diseases collectively affect approximately 30 million people in the United States. Despite advances in genomic medicine, early diagnosis is challenging because of limited awareness of, accessibility to, and disparities in health care resources. We assessed the real-world experiences of patients with rare diseases in Pennsylvania and evaluated the effect of delayed diagnosis on psychosocial and financial burdens.
View Article and Find Full Text PDFBlood Rev
August 2025
Department of Medicine, Stellenbosch University, Faculty of Medicine and Health Sciences, Tygerberg Campus, South Africa. Electronic address:
Clinicians need a good understanding of available tools to diagnose iron deficiency (ID). Interpretation of commonly used laboratory tests can be challenging due to the dynamic nature of iron homeostasis and concurrent inflammation, which influence results. The misinterpretation of iron studies, inconsistencies in ID diagnostic guidelines, and low awareness of non-anaemic ID may lead to missed diagnoses and opportunities for treatment.
View Article and Find Full Text PDFLancet Respir Med
September 2025
Effi-Stat, Paris, France.
Background: Among people with cystic fibrosis, sweat chloride and lung function response to elexacaftor-tezacaftor-ivacaftor (ETI) is variable. We hypothesised that the presence of two versus one ETI-responsive CFTR variant could predict response variability.
Methods: In this analysis of two real-world observational studies, data from a French national cohort of adults (aged ≥18 years) with cystic fibrosis and at least one F508del variant treated with ETI and the French compassionate programme for ETI in people (aged ≥6 years) with cystic fibrosis without F508del were used to examine sweat chloride concentrations (SCCs) after ETI initiation, and the absolute change in SCC and percentage of predicted forced expiratory volume in 1 s (ppFEV) following ETI initiation.
Med
August 2025
Joint Academic Rheumatology Program, School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece; Centre of New Biotechnologies and Precision Medicine (CNBPM), School of Medicine, National and Kapodistrian University of Athens, 11527 Athens, Greece. Electronic address: p
Background: Pathogenic responses against self and foreign antigens in systemic autoimmunity and infection, respectively, engage similar immunologic components, thus lacking distinguishing diagnostic biomarkers. Herein, we tested whether whole-blood transcriptome analysis discriminates autoimmune from infectious diseases.
Methods: We applied nested cross-validation methodology to tune and validate random forests, k-nearest neighbors, and support vector machines, using a new preprocessing method on 22 publicly available datasets, including 594 patients with a broad spectrum of systemic autoimmune diseases and 615 patients with diverse viral, bacterial, and parasitic infections.