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http://dx.doi.org/10.1016/j.ad.2020.08.028 | DOI Listing |
Cureus
December 2024
Department of Pediatrics, Military Hospital, Bahrain Defence Force Royal Medical Services, Riffa, BHR.
Trichohepatoenteric syndrome (THES) is a rare genetic disorder inherited in an autosomal recessive manner. THES primarily leads to neonatal enteropathy, typically manifesting as severe, persistent diarrhea, distinctive facial features such as frontal bossing and a broad flat nasal bridge, woolly and fragile hair, immunodeficiency resulting in recurrent infections, failure to thrive (FTT), and liver complications including fibrosis or cirrhosis. This multisystem disorder is linked to mutations in the tetratricopeptide repeat domain 37 (TTC37) gene, also known as superkiller complex (SKIC) protein 3, responsible for THES type 1, and the Ski2-like ribonucleic acid (RNA) helicase (SKIV2L) gene, also known as SKIC2, responsible for THES type 2.
View Article and Find Full Text PDFJ Am Acad Dermatol
January 2025
Dr. Phillip Frost Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL.
Frontal Fibrosing Alopecia (FFA) poses a distinct dermatological challenge with epithelial-mesenchymal transition (EMT) at its core, driving follicular cell transformation and fibrotic changes. Genetic studies highlight significant associations, while environmental triggers, such as implicated cosmetic products (sunblock, personal hair care products, and moisturizers), introduce complexity. Managing FFA proves daunting due to its chronic and unpredictable nature.
View Article and Find Full Text PDFJ Electrocardiol
December 2024
Crown Princess Victoria Children's Hospital, Dept of Biomedical and Clinical Sciences, Dept of Pediatrics, Linköping University, Sweden; Pediatric Heart Centre, Skåne University Hospital and Dept of Clinical Sciences, Lund University, Sweden. Electronic address:
Background: Myocardial fibrosis, expressed as late gadolinium enhancement (LGE) on cardiac magnetic resonance imaging (CMR), is an important risk factor for malignant cardiac events in hypertrophic cardiomyopathy (HCM). However, CMR is not easily available, expensive, also needing intravenous access and contrast.
Objective: To determine if derived vectorcardiographic spatial QRS-T angles, an aspect of advanced ECG (A-ECG), can indicate LGE to appropriately prioritize young HCM-patients for CMR.
Int Forum Allergy Rhinol
January 2025
Department of Otolaryngology, Head and Neck Surgery, Stanford University School of Medicine, Stanford, California, USA.
Background: Steroid rinses and steroid-eluting stents are both options for preventing postoperative stenosis after frontal sinus surgery. This study aimed to assess whether steroid-eluting stents offer added benefit over steroid rinses alone in postoperative healing and long-term frontal sinus patency.
Methods: A randomized controlled trial enrolled patients with CRS with nasal polyps (CRSwNP) who underwent surgery for bilateral and equal frontal sinusitis after failing prior medical therapy.
J Eur Acad Dermatol Venereol
January 2025
Inflammatory Immune-Mediated Chronic Skin Diseases Laboratory, IMIBIC, Córdoba, Spain.
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