Raynaud's phenomenon (RP) is a clinical sign of precocious abnormal microcirculation and can be considered a major risk factor for the development of connective tissue disease, especially systemic sclerosis (SSc). Nailfold videocapillaroscopy is the most valuable tool for the early diagnosis of SSc and related disorders. It allows classification of capillary abnormalities. Scoring capillaroscopic alterations, which change significantly during patient follow-up, should be systematically used in order to monitor microangiopathy. The effectiveness of the nailfold videocapillaroscopy in allowing an early diagnosis of SSc and monitoring the progression of the disease, and its predictive value of clinical complications make it a powerful tool for clinical evaluation and research.
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http://dx.doi.org/10.1016/j.autrev.2012.11.006 | DOI Listing |
Genome Med
January 2025
Hereditary Cancer Group, Oncobell Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Av. Gran Via 199-203, L'Hospitalet del Llobregat, 08908, Spain.
Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).
View Article and Find Full Text PDFJ Med Case Rep
January 2025
Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.
Background: Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia.
Case Presentation: Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria.
BMC Health Serv Res
January 2025
NIHR Greater Manchester Patient Safety Research Collaboration, Centre for Primary Care & Health Services Research, School of Health Sciences, Faculty of Biology, Medicine & Health, The University of Manchester, Greater Manchester, England, UK.
Background: Cervical screening rates have fallen in recent years in the UK, representing a health inequity for some under-served groups. Self-sampling alternatives to cervical screening may be useful where certain barriers prohibit access to routine cervical screening. However, there is limited evidence on whether self-sampling methods address known barriers to cervical screening and subsequently increase uptake amongst under-screened groups.
View Article and Find Full Text PDFBMC Cardiovasc Disord
January 2025
Department of Internal Medicine, Collage of Medicine and Health Science, Debre Markos University, Debre Markos, Ethiopia.
Background: In developing countries evidences regarding pulmonary hypertension (PH) in rheumatic heart disease (RHD) patients are lacking, despite being responsible for significant morbidity and mortality. As a result, identifying the factors that influence PH is crucial to improve the quality of care.
Objective: To determine prevalence of pulmonary hypertension and its associated factors among rheumatic heart disease patients at the public hospitals of Bahir Dar city, Ethiopia.
Mol Imaging Biol
January 2025
Department of Radiology, Weill Cornell Medicine, 413 E 69th Street, Room BB-1604, New York, NY, 10021, USA.
Purpose: Treatment of pediatric cancers with doxorubicin is a common and predictable cause of cardiomyopathy. Early diagnosis of treatment-induced cardiotoxicity and intervention are major determinants for the prevention of advanced disease. The onset of cardiomyopathies is often accompanied by profound changes in lipid metabolism, including an enhanced uptake of short-chain fatty acids (SCFA).
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