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A Childhood Langerhans Cell Histiocytosis With a Novel BRAFN486_T491delinsK Mutation: Good Response to Conventional Chemotherapy.
J Pediatr Hematol Oncol
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, China.
Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy.
View Article and Find Full Text PDFMedian Craniofacial Hypoplasia.
J Craniofac Surg
January 2025
Division of Plastic & Reconstructive Surgery, John H. Stroger Hospital of Cook County, Chicago, IL.
Median craniofacial hypoplasia is characterized by tissue deficiency of the midline facial structures and/or brain. Patients can present with a wide variety of facial differences that may or may not require operative intervention. Common reconstructive procedures include cleft lip and/or palate repair, rhinoplasty, and orthognathic surgery, among others.
View Article and Find Full Text PDFCollapsing glomerulopathy associated with parvovirus B19 and systemic lupus erythematosus in a patient with APOL1 high-risk variant for nephropathy.
J Bras Nefrol
January 2025
Universidade Federal de São Paulo, Departamento de Medicina, São Paulo, SP, Brazil.
Collapsing glomerulopathy (CG) has a severe course typically associated with viral infections, especially HIV and parvovirus B19, systemic lupus erythematosus (SLE), among other etiologies. A 35-year-old woman with recent use of a JAK inhibitor due to rheumatoid arthritis presented with a 2-week history of fever, cervical adenopathy, and facial erythema. After admission, anemia, hypoalbuminemia, proteinuria, and severe acute kidney injury were noted.
View Article and Find Full Text PDFNovel Reconstruction Method Using the Double-Arm Vascularized Fibula Flap and TriLock Bridging Plate System for Segmental Mandibulectomy Including the Anterior Border of the Mandibular Ramus.
J Craniofac Surg
January 2025
Department of Plastic and Reconstructive Surgery, Saitama Medical University International Medical Center.
This study aimed to develop a novel reconstruction method for segmental mandibulectomy. In the authors' opinion, reconstruction of the anterior border of the mandibular ramus using a double-arm vascularized fibular flap is important to prevent deformity due to buccal depression and the accumulation of food debris, thereby eliminating masticatory dead space that cannot be filled with prostheses such as implants or dentures. Using conventional reconstruction plates, the reconstructed bone positioned at the anterior border of the mandibular ramus required either fixing with only 1 screw or using 2 plates for stable fixation, making it difficult to position the plates stably.
View Article and Find Full Text PDFDiagnostic and Therapeutic Approach to Rare Tongue Lipoma.
J Craniofac Surg
January 2025
State Key Laboratory of Oral & Maxillofacial Reconstruction and Regeneration, Key Laboratory of Oral Biomedicine Ministry of Education, Hubei Key Laboratory of Stomatology, School & Hospital of Stomatology, Wuhan University.
Lipomas are benign soft tissue tumors composed of mature adipocytes, commonly found in subcutaneous tissues. Despite their prevalence in various body regions, they are relatively rare in the oral and maxillofacial regions. This study retrospectively analyzed the clinical and imaging characteristics, as well as the treatment outcomes of 57 patients diagnosed with lipoma.
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