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http://dx.doi.org/10.1007/s00347-021-01381-w | DOI Listing |
Codas
January 2025
Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre - HCPA - Porto Alegre (RS), Brasil.
Purpose: to characterize mastication and electrical activation of the masseter and anterior temporalis muscles in children and adolescents with osteogenesis imperfecta (OI), and relate results to guided occlusion and occlusal interference.
Methods: This observational, analytical cross-sectional study included 22 subjects divided into mild OI (MOI) (type 1) (n=15) and moderate-to-severe OI (MSOI) (types 3, 4, and 5) (n=7) groups. The Orofacial Myofunctional Evaluation with Scores (OMES) form was used to evaluate the clinical aspects of mastication.
Clin Park Relat Disord
January 2025
Cerebrovascular Unit Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy.
CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, characterized by recurrent strokes, cognitive decline, and psychiatric symptoms. This report presents a novel NOTCH3 c.1564 T > A (p.
View Article and Find Full Text PDFCureus
January 2025
Internal Medicine, University of Florida College of Medicine, Gainesville, USA.
Fibromuscular dysplasia (FMD) is a non-atherosclerotic, non-inflammatory vascular disease of medium-sized arteries that causes abnormal cellular growth in arterial walls and most commonly affects young to middle-aged women (20-50 years of age). While FMD often involves the renal arteries, it can affect any arterial bed. FMD has a characteristic angiographic appearance of a "string of beads.
View Article and Find Full Text PDFPlast Surg (Oakv)
February 2025
Hospital Regional de Alta Especialidad Materno Infantil, Secretaría de Salud del Gobierno del Estado de Nuevo León, Monterrey, Mexico.
Pilomatrixoma, also called Malherbe's calcifying epithelioma or pilomatrixoma, is a benign adnexal tumor that originates from keratinocytes (cells of the hair matrix, the internal sheath of the hair root or the cortex) and constitutes the second most prevalent skin neoplasm in children. These lesions are typically slow-growing, firm, nodules located on the head, neck, trunk, and extremities (in decreasing order of frequency). Due to the rarity, combined with their varied clinical presentations, pilomatrixomas are often misdiagnosed.
View Article and Find Full Text PDFMuscle 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.
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