Publications by authors named "H Kazkaz"
Article Synopsis
- Ehlers-Danlos syndromes (EDS) are genetic disorders that affect connective tissue, and there are 13 different types of EDS.
- Researchers studied 174 EDS patients who didn't have a clear genetic diagnosis to find out more about their conditions using advanced genetic testing called whole exome sequencing (WES).
- They discovered several genetic variants related to EDS and other similar disorders, showing that more research and better testing can help identify difficult cases and improve diagnosis.
This study answers the question of whether the health care costs of managing COVID-19 in preexisting cardiovascular diseases (CVD) patients increased or decreased as a consequence of evidence-based efforts to optimize the initial COVID-19 management protocol in a CVD group of patients. A retrospective cohort study was conducted in preexisting CVD patients with COVID-19 in Hamad Medical Corporation, Qatar. From the health care perspective, only direct medical costs were considered, adjusted to their 2021 values.
View Article and Find Full Text PDFPurpose: Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to enable improved management of this rare genetic disorder.
Methods: Patients diagnosed with clEDS by the national EDS service in the UK (n = 21) and abroad (n = 1) were asked for consent for publication of their clinical and molecular data.
Background: The Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders with several recognised types. Patients with a type of EDS have connective tissue abnormalities resulting in a varying degree of joint hypermobility, skin and vascular fragility and generalised tissue friability. Classical EDS (cEDS) typically occurs as a result of dominant pathogenic variants in or .
View Article and Find Full Text PDFThe 2017 international classification of the Ehlers-Danlos syndromes.
Am J Med Genet C Semin Med Genet
March 2017
Article Synopsis
- * Recent advances have revealed new EDS subtypes and genetic mutations, prompting the International EDS Consortium to propose a revised classification that recognizes 13 subtypes along with specific clinical diagnosis criteria.
- * The revised classification aims to address the genetic and clinical complexity of EDS, emphasizing the importance of genetic testing for most subtypes and improving distinctions between hypermobile EDS and other related disorders.