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Case report: Multisystemic smooth muscle dysfunction syndrome: a rare genetic cause of infantile interstitial lung disease.
Front Pharmacol
January 2025
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth.
View Article and Find Full Text PDFSarcoidosis as an Uncommon Cause of Chest Pain: A Case Report.
Cureus
January 2025
Internal Medicine, Hospital Senhora da Oliveira, Guimarães, PRT.
Sarcoidosis is a multisystem granulomatous disease of unknown etiology. Despite primarily affecting the lung, sarcoidosis can affect any organ, resulting in various clinical manifestations. We present a case of a 56-year-old man who developed thoracic pain over several months along with skin lesions.
View Article and Find Full Text PDFPresentation and outcome of Alagille syndrome in paediatric patients at State Academic Hospital in South Africa.
Sudan J Paediatr
January 2024
Department of Paediatrics and Child Health, School of Clinical Medicine, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder in which patients may have characteristic facial features and involvement of the liver, heart, vessels, bones, eyes, kidneys and central nervous system. As there is little published data on ALGS in Africa, our aim was to describe the presentation and outcomes of ALGS in South Africa. The study constitutes a retrospective analysis of 25 patient medical records diagnosed as ALGS at Chris Hani Baragwanath Academic Hospital Pediatric Gastroenterology clinic between January 1992 and January 2020.
View Article and Find Full Text PDFEvaluating SCUBE-1 as Predictive Biomarker for Hypertension-Mediated Organ Damage: A Comparative Study.
Rev Cardiovasc Med
January 2025
Department of Cardiology, Gazi University Faculty of Medicine, 06560 Ankara, Turkey.
Background: Hypertension-mediated organ damage (HMOD) is a critical complication of hypertension that can present with cardiac, retinal, and renal manifestations and affect patient outcomes. Serum signal peptide, CUB (complement C1r/C1s, Uegf, and Bmp1) domain, and epidermal growth factor-like domain-containing protein 1 (SCUBE-1), a novel biomarker implicated in vascular pathology, shows promise for detecting HMOD. This study aims to explore the relation between SCUBE-1 levels and HMOD in hypertensive patients.
View Article and Find Full Text PDFUtilization of Cardiac Magnetic Resonance Imaging for Assessing Myocardial Fibrosis in Prognosis Evaluation and Risk Stratification of Patients with Dilated Cardiomyopathy.
Rev Cardiovasc Med
January 2025
Department of Radiology, Affiliated Hospital of North Sichuan Medical College, 637000 Nanchong, Sichuan, China.
Dilated cardiomyopathy (DCM) is the ultimate manifestation of the myocardial response to various genetic and environmental changes and is characterized mainly by impaired left ventricular systolic and diastolic function. DCM can ultimately lead to heart failure, ventricular arrhythmia (VA), and sudden cardiac death (SCD), making it a primary indication for heart transplantation. With advancements in modern medicine, several novel techniques for evaluating myocardial involvement and disease severity from diverse perspectives have been developed.
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