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http://dx.doi.org/10.4103/ijd.ijd_49_22 | DOI Listing |
Clin Dysmorphol
December 2024
Department of Pediatric Genetics.
Introduction: Spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMD-JL1) is an extremely rare skeletal dysplasia belonging to a group of disorders called linkeropathies. It is characterized by skeletal and connective tissue abnormalities. Biallelic variants in genes encoding enzymes that synthesize the tetrasaccharide linker region of glycosaminoglycans lead to linkeropathies, which exhibit clinical and phenotypic features that overlap with each other.
View Article and Find Full Text PDFHeliyon
January 2025
Programa de Pós-Graduação em Medicina Veterinária - Clínica e Reprodução Animal, Universidade Federal Fluminense, Niterói, RJ, Brazil.
Feline primary bone tumors are rare. Still, osteosarcoma (OSA) composes almost 80 % of malignant bone tumors in cats, affecting mostly elder feline individuals. Many differences are observed between canine and feline OSA regarding radiographic image and tumoral behavior, especially metastasis development.
View Article and Find Full Text PDFCureus
December 2024
Orthopaedics and Traumatology, Faculty of Medicine, Ondokuz Mayıs University, Samsun, TUR.
Aneurysmal bone cysts (ABCs) are aggressive, osteolytic lesions usually seen in childhood and young adulthood. The patient's age, location, and behavior of the lesion in the bone may cause patients to present with different clinical findings. Appropriate treatment of these rare, aggressive bone lesions is essential for recurrence.
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December 2024
Family Medicine, Family Health Unit (USF) Almedina, Local Health Unit of Trás-os-Montes and Alto Douro (ULSTMAD), Lamego, PRT.
Easy bruising and ecchymosis are common symptoms in clinical practice, yet distinguishing benign from clinically significant cases can be challenging. We report the case of a 46-year-old woman who presented in December 2023 with easy bruising and increased menstrual flow, revealing new-onset pancytopenia in laboratory tests. Initially diagnosed with Acute Myeloid Leukemia inversion (inv) (16), subsequent results were inconclusive, leading to a diagnosis of Paroxysmal Nocturnal Hemoglobinuria (PNH).
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December 2024
Department of Orthopaedics, Tokyo Metropolitan Bokutoh Hospital, Tokyo, JPN.
Hypertrophic pachymeningitis (HP) is a rare inflammatory disease that causes the thickening of the dura mater. Its etiology is mainly classified as idiopathic or secondary, and autoimmune disease is one of the main causes of secondary HP. Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis and IgG4-related disease are common among autoimmune diseases.
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