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Case Report: Novel variants cause atypical adenosine deaminase 2 deficiency.
Front Genet
January 2025
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Case Presentation: A girl aged 2 years and 5 months presented to the hospital with chief complaints of intermittent fever and weakness of the left limb for more than 1 month. The child had transient urticaria appearing on her face for 5 days. The inflammatory biomarkers were significantly increased.
View Article and Find Full Text PDFClinicopathological Features of Mixed Connective Tissue Disease-Related Myositis: A Case Series.
Muscle Nerve
January 2025
Department of Neurology, Tohoku University Graduate School of Medicine, Sendai, Japan.
Introduction: Mixed connective tissue disease (MCTD) patients often have myositis, however, myopathological and clinical data for MCTD are limited. Recent reports have shown that the pathology of MCTD myositis resembles that of immune-mediated necrotizing myopathy (IMNM), whereas earlier reports described perifascicular atrophy or inflammatory infiltrates predominantly in the perivascular region in MCTD myositis. We aim to describe the clinical and myopathological features of MCTD myositis.
View Article and Find Full Text PDFRelationships between orofacial pain and sleep: Analysis of UK biobank and genome-wide association studies data.
J Dent Sci
January 2025
Department of Orthodontics, Peking University School and Hospital of Stomatology, Beijing, China.
Background/purpose: Orofacial pain is common in dental practices. This study aimed to explore relationships between orofacial pain and sleep using the UK Biobank dataset and, based on epidemiological associations, to investigate the causal association using genome-wide association studies data.
Materials And Methods: First, a cross-sectional study was conducted with 196,490 participants from UK Biobank.
Prevalence and Correlation of Lip Shapes and Arch Forms in Primary Dentition of Children between 3-6 Years of Age: A Cross-sectional Study.
Int J Clin Pediatr Dent
December 2024
Department of Prosthodontics, Crown & Bridge and Implantology, Government College of Dentistry, Indore, Madhya Pradesh, India.
Aims And Background: The study of the morphology of soft tissues as well as hard tissues of the orofacial region holds prime importance. A very less information is known about the lips (soft tissues) and maxillo-mandibular arches (hard tissue structures) in primary dentition. Henceforth, there is a need to classify, find the prevalence and correlation of various lip shapes, and arch forms in primary dentition.
View Article and Find Full Text PDFLentigo maligna melanoma of the face: Clinical insights from a case of recurrence following surgical excision.
Int J Surg Case Rep
January 2025
Head and neck Surgery Department, Khalili Hospital, Shiraz University of Medical Sciences, Shiraz, Iran. Electronic address:
Background: Lentigo maligna (LM) and lentigo maligna melanoma (LMM) are the most prevalent subtypes of melanoma, primarily affecting sun-exposed areas of the face in individuals aged 65 to 80 years. LM accounts for approximately 80 % of in situ melanomas and carries a risk of progression to LMM, which constitutes 4 % to 15 % of global cutaneous melanoma cases. This report discusses the clinical challenges and management strategies for recurrent LM, with an emphasis on accurate diagnosis and surgical intervention.
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