We describe the clinical findings and biochemical features of a male child suffering from a so far undescribed lethal connective tissue disorder characterised by extreme hypermobility of the joints, lax skin, cataracts, severe growth retardation, and insufficient production of type I and type III procollagens. His features are compared with Ehlers-Danlos type IV, De Barsy syndrome, and geroderma osteodysplastica, as these disorders show some symptoms and signs shared with our patient. The child died because of failure of the connective tissue structures joining the skull and the spine, leading to progressive spinal stenosis. The aortic valve was translucent and insufficient. The clinical symptoms and signs, together with histological findings, suggested a collagen defect. Studies on both skin fibroblast cultures and the patient's serum showed reduced synthesis of collagen types I and III at the protein and RNA levels. The sizes of the mRNAs and newly synthesised proteins were normal, excluding gross structural abnormalities. These findings are not in accordance with any other collagen defect characterised so far.
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http://dx.doi.org/10.1136/jmg.35.6.513 | DOI Listing |
Int J Biol Macromol
January 2025
College of Pharmacy, Guangxi University of Chinese Medicine, Nanning, China. Electronic address:
Bacterial infections impede skin wound healing, and antibacterial hydrogels have garnered significant attention in the field of wound care due to their combined therapeutic effects. In this study, an intelligent, responsive AC-Gel@Cur-Au hydrogel was developed using temperature-sensitive agarose and pH-responsive chitosan as the structural framework, infused with Gel@Cur and AuNR. The AC-Gel@Cur-Au hydrogels demonstrated excellent mechanical properties, swelling capacity, tissue adhesion, and biodegradability.
View Article and Find Full Text PDFGland Surg
December 2024
Department of Gynecology, Wenzhou People's Hospital, Wenzhou, China.
Background: Infertility is a special reproductive health defect. For women, congenital uterine malformations, extensive adhesions in the uterine cavity, and hysterectomy are associated with infertility. Uterine transplantation is technically feasible, but its clinical application and development are limited by donor shortages and immune rejection.
View Article and Find Full Text PDFBlood Adv
January 2025
Department of Internal Medicine, Division of Thrombosis and Hemostasis, Einthoven Laboratory for Vascular and Regenerative Medicine, Leiden University Medical Center, Leiden, The Netherlands.
Treatment options for the bleeding disorder von Willebrand disease type 2B (VWD2B) are insufficient and fail to address the negative effects of circulating mutant von Willebrand factor (VWF). The dominant-negative nature of VWD2B makes functionally defective VWF an interesting therapeutic target. Previous in vitro studies have demonstrated the feasibility of allele-selective silencing of mutant VWF using small interfering RNAs (siRNAs) targeting common single nucleotide polymorphisms (SNPs) in the human VWF gene, an approach that can be applied irrespective of the disease-causing VWF mutation.
View Article and Find Full Text PDFBone Joint Res
January 2025
Department of Orthopaedics, People's Liberation Army Joint Logistic Support Force 920th Hospital, Kunming, China.
Aims: Magnesium ions (Mg) play an important role in promoting cartilage repair in cartilage lesions. However, no research has focused on the role of Mg combined with microfracture (MFX) in hyaline-like cartilage repair mediated by cartilage injury. This study aimed to investigate the beneficial effects of the combination of MFX and Mg in cartilage repair.
View Article and Find Full Text PDFArtif Organs
January 2025
Department of Thoracic and Cardiovascular Surgery, Hirosaki University Graduate School of Medicine, Hirosaki, Aomori, Japan.
Background: Impairment of the visceral pleura following thoracic surgery often leads to air leaks and intrathoracic adhesions. For preventing such complications, mesothelial cell proliferation at the pleural defects can be effective. To develop new materials for pleural defects restoration, we constructed a hybrid artificial pleural tissue (H-APLT) combining polyglycolic acid (PGA) nanofiber sheets with a three-dimensional culture of mesothelial cells and fibroblasts and evaluated its therapeutic efficacy in a rat pleural defect model.
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