247 results match your criteria: "Diastrophic Dysplasia"
Dis Model Mech
December 2024
Department of Orthodontics and Dentofacial Orthopedics, Osaka University Graduate School of Dentistry, Osaka 565-0871, Japan.
Anaesthesiologie
October 2024
Klinik für Gynäkologie und Geburtshilfe, St. Elisabeth-Hospital Bochum, Ruhr-Universität Bochum, Bochum, Deutschland.
Clin Case Rep
October 2023
División de Estudios de Posgrado de la Facultad de Medicina, Universidad Nacional Autónoma de México/Departamento de Genética Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico.
Front Genet
September 2023
Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.
Bone
October 2023
Nemours Children's Hospital, Wilmington, DE, USA; Thomas Jefferson University, Philadelphia, PA, USA.
Diastrophic dysplasia (DTD) is an uncommon pathology which falls under the group of skeletal dysplasias with its first symptoms observed from birth. The pathology is often featured by short stature and abnormally short extremities (also known as short-limbed dwarfism); the osseous structures of the body (bones and joints) are characterized through defective development in many body regions. More than 300 genes were reported to be involved in DTD etiology with autosomal recessive, autosomal dominant and X-linked manner.
View Article and Find Full Text PDFEur Rev Med Pharmacol Sci
February 2023
Preventive Dental Science Department, Faculty of Dentistry, Najran University, Kingdom of Saudi Arabia.
Mol Syndromol
January 2023
Skeletal Dysplasia Group, Department of Translational Medicine, Faculty of Medical Sciences, University of Campinas, Campinas, Brazil.
Neurosurg Clin N Am
January 2022
Division of Pediatric Neurosurgery, Nemours/AI duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA. Electronic address:
Eur J Med Genet
October 2022
Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, Delhi, 110060, India. Electronic address:
Turk J Obstet Gynecol
September 2021
Department of Obstetrics and Gynecology, Federal University of Triângulo Mineiro (UFTM), Uberaba-MG, Brazil
To present a prenatal diagnosis of diastrophic dysplasia in the second trimester of pregnancy using two- (2D) and three-dimensional (3D) ultrasonography. The mother was primigravida and aged 12 years. She underwent the first 2D obstetric ultrasound examination at 27 weeks, showing bilaterally upper and lower limb micromelia, thumb and hallux in bilateral abduction, bilateral talipes equinovarus; hyperlordosis of the lumbar spine, cervical, lumbar, and sacral scoliosis; cervical hyperkyphosis with the misalignment of cervical vertebrae, and straight clavicles.
View Article and Find Full Text PDFJ Orthop Case Rep
February 2021
Department of Pediatrics, All India Institute of medical Sciences, Rishikesh, Uttarakhand, India.
Introduction: Diastrophic dysplasia (DTD) results from SCN26A2 gene mutation, with autosomal recessive inheritance and widely variable phenotype. The gene has been mapped to chromosome 5q32-q33.1.
View Article and Find Full Text PDFMol Ther Nucleic Acids
June 2021
Department of Orthopedic Surgery, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
Genes (Basel)
May 2021
Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.
Global Spine J
March 2023
Hospital for Special Surgery, New York, NY, USA.
Biochem Pharmacol
March 2021
Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy. Electronic address:
Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by mutations in the SLC26A2 gene encoding for a sulfate/chloride transporter. When SLC26A2 is impaired intracellular level of sulfate is reduced leading to the synthesis of undersulfated proteoglycans. In normal chondrocytes, the main source of intracellular sulfate is the extracellular uptake through SLC26A2, but a small amount comes from the catabolism of sulfur-containing amino acids and other thiols.
View Article and Find Full Text PDFSpine Deform
May 2021
Department of Orthopaedic Surgery, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Purpose: To trial the use of three-dimensional (3D) printed skull models to guide safe pin placement in two patients with diastrophic dysplasia (DTD) requiring prolonged pre-fusion halo-gravity traction (HGT).
Methods: Two sisters aged 8 (ML) and 4 (BL) with DTD were planned for staged fusion for progressive kyphoscoliosis. Both sisters were admitted for pre-fusion HGT.
Diagnostics (Basel)
May 2020
Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua 50046, Taiwan.
Eur J Med Genet
November 2019
Folkhälsan Institute of Genetics and University of Helsinki, Helsinki, Finland; Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden. Electronic address:
J Pharm Sci
December 2017
Department of Drug Science, University of Pavia, V.le Taramelli 115, Pavia 27100, Italy. Electronic address:
Potential off-label therapeutic role of N-acetylcysteine (N-Ac) was recently demonstrated in the treatment of diastrophic dysplasia (DTD) using mutant mice; its main drawback is the rapid clearance from blood due to the liver metabolism. Our goal was to investigate the potential of polyethylene glycol polylactide-co-glycolide block copolymer (PLGA-PEG)-based nanoparticles (NPs) in order to improve in vivo biodistribution performances and N-Ac pharmacokinetic profile after subcutaneous administration in mice. Results suggest that N-Ac can be effectively loaded into NPs (about 99 μg/mg NPs) using a suitably optimized nanoprecipitation method.
View Article and Find Full Text PDFQual Life Res
May 2017
Department of Surgery, Center for Surgery and Public Health, Brigham & Women's Hospital, Harvard Medical School, Harvard T.H. Chan School of Public Health, Boston, MA, USA.
Introduction: Numerous factors associate with health disparities. The extent to which such factors influence health-related quality of life (HRQOL) among adults with short stature skeletal dysplasias (SD) is unknown. In an effort to update and clarify knowledge about the HRQOL of adults with SD, this study aimed to quantify HRQOL scores relative to the American average and assess whether specific indicators are associated with lower scores.
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