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Reconstruction of Back Defect from Giant Congenital Melanocytic Nevus Using Dermal Substitute Matrix.
Plast Reconstr Surg Glob Open
January 2025
From the Division of Plastic and Reconstructive Surgery, Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Giant congenital melanocytic nevi are large pigmented premalignant lesions present at birth that have an associated risk of malignant transformation. Full-thickness excision of these lesions would be required to eliminate this risk. However, giant nevi can leave behind large defects that can be challenging to reconstruct.
View Article and Find Full Text PDFEfficacy of Clindamycin in Preventing Abortion and Vertical Transmission of (PRU Strain) Infection in Pregnant BALB/c Mice.
Iran J Pharm Res
October 2024
Laboratory of Molecular Parasitology, Scientific Center of Zoology and Hydroecology, Yerevan, Armenia.
Background: transmission can occur during pregnancy if the mother contracts the infection for the first time. Treatment strategies include the use of antimicrobial medications and providing supportive care. Spiramycin is commonly used to treat toxoplasmosis in pregnant women and to hinder the disease's transmission.
View Article and Find Full Text PDFDeep learning-based assessment of missense variants in the gene presented with bilateral congenital cataract.
BMJ Open Ophthalmol
January 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China
Objective: We compared the protein structure and pathogenicity of clinically relevant variants of the gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.
Methods And Analysis: The sequences of clinically relevant Cog4 missense variants (one novel identified p.Y714F and three pre-existing p.
Human adipose-derived multipotent stromal cells enriched with IL-10 modRNA improve diabetic wound healing: Trigger the macrophage phenotype shift.
Bioeng Transl Med
January 2025
Institute of Pediatric Translational Medicine, Shanghai Institute of Pediatric Congenital Heart Disease, Shanghai Children's Medical Center, School of Medicine Shanghai Jiao Tong University Shanghai China.
Diabetic wounds present a significant challenge in regenerative medicine due to impaired healing, characterized by prolonged inflammation and deficient tissue repair, primarily caused by a skewed pro-inflammatory macrophage phenotype. This study investigates the therapeutic potential of interleukin-10 (IL-10) chemically modified mRNA (modRNA)-enriched human adipose-derived multipotent stromal cells (hADSCs) in a well-established murine model of diabetic wounds. The modRNAs used in this study were chemically modified using N1-methylpseudouridine-5'-triphosphate (m1Ψ) by substituting uridine-5-triphosphate.
View Article and Find Full Text PDFMetachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Genes (Basel)
November 2024
Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
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