China
Africa
Explore chapters and articles related to this topic
Systemic causes of CSF rhinorrhea
Published in Jyotirmay S. Hegde, Hemanth Vamanshankar, CSF Rhinorrhea, 2020
Hemanth Vamanshankar, Jyotirmay S Hegde
Two subtypes have been described:5–7Ehlers-Danlos syndrome classic type: Characterized by joint hypermobility and extensive skin involvement: skin hyperextensibility, abnormal wound healing, and scar formation. Fragility of other connective tissues is also noted, causing cervical insufficiency in pregnancy, recurrent hernias, and rectal prolapse. Cauliflower deformity of skin collagen fibrils on histology is characteristic of the classic type of EDS. Diagnosis is usually clinical, but almost 50% have mutations of the COL5A1 or COL5A2 gene. However, a negative test cannot rule out its absence.Ehlers-Danlos syndrome hypermobility type: This is the more common subtype of EDS. It presents with chronic painful instability of joints associated with joint dislocations. This further leads to degenerative joint disease in young adults. Skin involvement, however, is mild: soft skin that bruises easily. The genetic basis of this subtype is unknown. A positive family history may sometimes be elicited in these patients. Diagnosis is clinical.
Genetic disorders, skeletal dysplasias and malformations
Published in Ashley W. Blom, David Warwick, Michael R. Whitehouse, Apley and Solomon’s System of Orthopaedics and Trauma, 2017
Fergal Monsell, Martin Gargan, Deborah Eastwood, James Turner, Ryan Katchky
The inheritance pattern is variable and most cases have an autosomal dominant pattern. There are often abnormalities of collagen formation, commonly involving mutations of COL5A1 or COL5A2 with COL1A1, COL1A2 and COL3A1 also reported.
Principles of Clinical Diagnosis
Published in Susan Bayliss Mallory, Alanna Bree, Peggy Chern, Illustrated Manual of Pediatric Dermatology, 2005
Susan Bayliss Mallory, Alanna Bree, Peggy Chern
Major pointsEhlers–Danlos syndrome I. Gravis type (classic, severe): skin fragility and hyperextensibility; soft, velvety skin; joint hypermobility; easily bruised skin; atrophic scars; varicose veins (Figure 20.18)Autosomal dominantBiochemical defect: COL5A1, or COL5A2, or COL1A1Gene locus: 2q31, 17q21.31-q22, 9q34.2-q34.3Ehlers–Danlos syndrome II. Mitis type (classic, mild): similar to type I, but less severe; easily bruised skin; floppy mitral valve; absence of inferior labial frenulum and lingual frenulumAutosomal dominantBiochemical defect: COL5A1, COL5A2Gene locus: 9q34.2-q34.3Ehlers–Danlos syndrome III. Hypermobile type: large and small joint hypermobility (marked) and dislocations; soft skinAutosomal dominantBiochemical defect: COL3A1 and tenascin-XBGene locus: 2q31Ehlers–Danlos syndrome IV. Vascular type: arterial, bowel and uterine rupture; marked skin fragility with thin, translucent skin; easily bruised skin; absence of skin and joint extensibility; tendency to form keloids; characteristic facial
Management of progressive pulmonary fibrosis associated with connective tissue disease
Published in Expert Review of Respiratory Medicine, 2022
María Molina-Molina, Iván Castellví, Claudia Valenzuela, José Ramirez, José Antonio Rodríguez Portal, Tomás Franquet, Javier Narváez
The pathogenesis of ILD associated with CTD (CTD-ILD) is not completely elucidated, although the main hypothesis assumes that tissue fibrosis is preceded by an immune-mediate process [1–6,13–16]. In SSc, this process seems to be triggered by endothelial injury in the context of encompassing immune activity [3,14,15]. In the last decades, some research studies have suggested different pathways to be implicated in the development of ILD in SSc and RA, including immune-mediated alveolar epithelial damage and endothelial disorders, and the subsequent and progressive abnormal extracellular matrix remodeling and myofibroblast formation [17]. Following the identification of these pathogenic pathways and implicated mediators, different future potential strategies are being pre-clinically evaluated in SSc-associated ILD (SSc-ILD) and RA-associated ILD (RA-ILD), including the regulation of some relevant overexpressed extracellular matrix proteins such as COL5A2 [18,19].
Genetic analysis of ring finger protein 213 (RNF213) c.14576G>A polymorphism in patients with vertebral artery dissection: a comparative study with moyamoya disease
Published in Neurological Research, 2019
Ryosuke Tashiro, Miki Fujimura, Hiroyuki Sakata, Hidenori Endo, Yasutake Tomata, Mika Sato-Maeda, Kuniyasu Niizuma, Teiji Tominaga
The similarities and differences between intracranial VAD and CAD remain unclear. Some patients with concurrent intracranial VAD and CAD have been reported [23–25], but they are extremely rare. CAD is more prevalent among Caucasians and there are some reports of genetic predisposing factors for CAD. Mutations of genes involved in the biosynthesis of the extracellular matrix (COL3A1, COL1A1, COL5A2 and SNTA1), transforming growth factor signaling (TGFBR2 and TGFBR1) and smooth muscle cell contractile system (ACTA2 and MYH1) [26–29]. The exact roles of these genes in the pathogenesis of CAD remain unclear; however, it is probable that mutations in these genes are genetic predisposing factors for intracranial VAD. Future studies should unveil the etiology and mechanism of intracranial VAD development.
MicroRNAs as possible biomarkers for screening of aortic aneurysms: a systematic review and validation study
Published in Biomarkers, 2018
Areti Moushi, Kyriaki Michailidou, Marinos Soteriou, Marios Cariolou, Evy Bashiardes
The expression of hsa-miR-29a, in our study, following the pattern of previous studies, was lower in plasma samples collected before the removal of aneurysm compared to those collected after the surgery. This miRNA was found to be up-regulated in only one study in TAA tissue samples (Ikonomidis et al.2013), whereas in the other four studies the expression was lower in both plasma and tissue samples of aortic aneurysms compared to controls (Jones et al. 2011, Liao et al. 2011, Ikonomidis et al. 2013, Zhang et al. 2015). Jones et al. (2011) identified MMP-2, a protein that has been previously shown to have increased expression in aortic aneurysms (Longo et al.2002, Ikonomidis et al.2007) and could be a possible target for this miRNA. In more detail, to human aortic vascular smooth muscle cells a miR-29a precursor was added in one experimental set-up while a miRNA-29a antagonist was added in another, showing that MMP-2 was decreased when miR-29a was overexpressed and decreased in cells with anti-29a (Jones et al.2011). In addition, there is strong evidence that hsa-miR-29a interacts with different types of collagen (COL3A1, COL4A2, COL5A2, and COL10A1) in different cell types (Du et al.2010, Maurer et al.2010)