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The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review.
Clin Genet
December 2024
Univ. Lille, CHU Lille, ULR7364 - RADEME - Maladies RAres du DEveloppement embryonnaire et du Métabolisme, CRMR Déficiences Intellectuelles de Causes Rares, Lille, France.
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP) is a rare autosomal dominant syndrome caused by pathogenic variants in the BRPF1 gene, which is critical for chromatin regulation. This study expands the clinical and molecular spectrum of IDDDFP by analysing 29 new patients from 20 families with confirmed BRPF1 variants. Our cohort presented with a wide range of clinical features including developmental delay, intellectual disability (ID) and characteristic dysmorphic facial features such as ptosis, blepharophimosis and a broad nasal bridge.
View Article and Find Full Text PDFAuricular Mucormycosis: Comprehensive Literature Review.
Ear Nose Throat J
January 2025
Department of Otorhinolaryngology, Al Mouwasat University Hospital, Damascus University, Damascus, Syria.
Auricular mucormycosis is an exceptionally rare and aggressive fungal infection primarily affecting immunocompromised individuals, particularly those with poorly controlled diabetes. This report presents the case of a 54-year-old diabetic woman with isolated auricular mucormycosis and facial nerve palsy. The patient developed right auricular edema, necrosis, and severe pain, progressing over 10 days, with no history of trauma.
View Article and Find Full Text PDFAssociation Between Local Skin Reactions and Efficacy with 5-Fluorouracil 4% Cream in Actinic Keratosis: A Post-Hoc Analysis of Two Randomised Clinical Trials.
Dermatol Ther (Heidelb)
January 2025
Medical Direction Pharmaceutical Care and Medical Dermatology, Pierre Fabre Dermatologie, Les Cauquillous, 81500, Lavaur, France.
Introduction: Topical 5-fluorouracil (5-FU), 5% or 4% cream, is recommended among first-line treatments for actinic keratosis (AK). Local skin reactions (LSRs) are an expected and transient response to treatment with 5-FU but can lead to treatment discontinuation when severe. This analysis aimed to investigate whether the severity of LSRs during the treatment was associated with lesion clearance assessed 4 weeks after completing treatment.
View Article and Find Full Text PDFWhich is the fastest and safest approach? A comparison of time and complications of transparotid and anteroparotid retromandibular approach in management of mandibular subcondylar fractures: A Prospective Randomized controlled trial.
J Stomatol Oral Maxillofac Surg
January 2025
Department of Oral and Maxillofacial Surgery, Mahatma Gandhi Missions Dental College and Hospital, Sector 01, Kamothe, Navi Mumbai, Maharashtra, India, 410209.
Introduction: Mandibular condylar fractures are among the most common facial fractures and its incidence has been rising since the past few decades. Although various approaches for management of mandibular condylar fractures have been described in literature there is a gap in the published literature when it comes to comparison of these approaches. There have only been a handful of studies which have compared use of Retromandibular Transparotid against Retromandibular anteroparotid approach in management of mandibular condylar fractures with conflicting results.
View Article and Find Full Text PDFPrevalence of complications of buccal fat removal: A systematic review and meta-analysis.
J Craniomaxillofac Surg
January 2025
Dentistry Department, University of Brasília, Brasília, DF, Brazil. Electronic address:
Removal of the buccal fat pad can be considered safe as long as there is a detailed analysis of anatomical landmarks. The objective of this study was to estimate the prevalence of intra- and postoperative complications resulting from buccal fat pad removal through a systematic review. The search strategy involved observational and/or interventional studies in humans that included at least one case of buccal fat pad removal with a description of the surgery, postoperative progress, and complications.
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