Right Hemianopsia and Right-Limb Hypesthesia Associated With Vascular Ehlers-Danlos Syndrome and Antiphospholipid Syndrome
J Clin Neurol. 2024 Jan;20(1):94-96. doi: 10.3988/jcn.2022.0251.NO ABSTRACTPMID:38179637 | PMC:PMC10782094 | DOI:10.3988/jcn.2022.0251 (Source: Journal of Clinical Neurology)
Source: Journal of Clinical Neurology - January 5, 2024 Category: Neurology Authors: Seung Ae Kim Wookjin Yang Jeong-Min Kim Source Type: research
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts
Ehlers-Danlos syndrome Type IV (aka Vascular Ehlers Danlos, or vEDS) is a dominantly inherited mutation in the Collagen 3A1 gene (COL3A1). The disease is characterized by tissue friability and age-related suscept... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - January 5, 2024 Category: Internal Medicine Authors: Reece Foehr, Keith Anderson, Owen Dombrowski, Anna Foehr and Erik D. Foehr Tags: Research Source Type: research
Left main and three vessels spontaneous coronary artery dissection as an incidental finding in young man with history of Hodgkin's lymphoma-a case report
CONCLUSIONS: Based on our hypothesis, chemoradiotherapy-induced arteriopathies could be consider as a predisposing factor for spontaneous coronary artery dissection.PMID:38172682 | DOI:10.1186/s12872-023-03609-w (Source: Atherosclerosis)
Source: Atherosclerosis - January 3, 2024 Category: Cardiology Authors: Raheleh Kavyani Soheila Salari Zeinab Norozi Saeid Hosseini Saifullah Abdi Alireza Rai Majid Maleki Source Type: research
Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion
AbstractCraniocervical instability (CCI) is increasingly recognized in hereditary disorders of connective tissue and in some patients following suboccipital decompression for Chiari malformation (CMI) or low-lying cerebellar tonsils (LLCT). CCI is characterized by severe headache and neck pain, cervical medullary syndrome, lower cranial nerve deficits, myelopathy, and radiological metrics, for which occipital cervical fusion (OCF) has been advocated. We conducted a retrospective analysis of patients with CCI and Ehlers-Danlos syndrome (EDS) to determine whether the surgical outcomes supported the criteria by which patients...
Source: Neurosurgical Review - January 2, 2024 Category: Neurosurgery Source Type: research
Cardiovascular Complications In Hospitalized Patients With Ehlers Danlos Syndrome (EDS) A Retrospective Cohort Study
Ehlers Danlos syndromes (EDS) constitute a group of connective tissue diseases characterized by collagen synthesis abnormalities. The manifestation of EDS varies among the affected individuals, but most commonly present with hypermobility of joint, hyperextensibility of the skin, and tissue fragility. The literature described different comorbidities in patients with EDS. We intend to describe the clinical characteristics of these patients and further focus on cardiovascular complications. (Source: Journal of Cardiac Failure)
Source: Journal of Cardiac Failure - January 1, 2024 Category: Cardiology Authors: Mustafa H. Al-Taei, Abbas Alshami Tags: 176 Source Type: research
Ten years of successful linaclotide treatment in a patient with intestinal pseudo-obstruction due to Ehlers-Danlos syndrome
(Source: Internal and Emergency Medicine)
Source: Internal and Emergency Medicine - December 30, 2023 Category: Emergency Medicine Source Type: research
Adult-onset idiopathic peripheral pulmonary artery stenosis
Extract
Peripheral pulmonary artery stenosis (PPS) is defined as the obstruction of the pulmonary artery from the pulmonary artery trunk to the peripheral arteries. PPS is considered a paediatric-onset disease associated with systemic congenital diseases (congenital rubella syndrome, Williams syndrome, Alagille syndrome, Ehlers–Danlos syndrome and Noonan syndrome) [1–4]. Apart from PPS associated with congenital syndromes, adult-onset idiopathic PPS has been reported [5]; however, it is rare and has not been reported in more than 10 cases. Transcatheter pulmonary angioplasty for chronic thromboembolic pulmonary...
Source: European Respiratory Journal - December 21, 2023 Category: Respiratory Medicine Authors: Tamura, Y., Tamura, Y., Shigeta, A., Hosokawa, K., Taniguchi, Y., Inami, T., Adachi, S., Tsujino, I., Nakanishi, N., Sato, K., Sakamoto, J., Tanabe, N., Takama, N., Nakamura, K., Kubota, K., Komura, N., Kato, S., Yamashita, J., Takei, M., Joho, S., Ishii, Tags: Pulmonary vascular disease Original Articles: Pulmonary vascular disease Source Type: research
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers –Danlos syndrome: a family case report and literature review
In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a man who died of vEDS. The precise diagnosis of this case using whole-exome sequencing provided solid evidence for the cause of death, demonstrating the practical value of genetic counseling and analysis. Early diagnosis for the proband’s son, who was also affected by vEDS, revealed initial complications of vEDS in early childhood, which have rarely been reported. We also reviewed the literature on COL3A1 missense mutations and related phenotypes. We identified an association between digestion tract events and non-glycine miss...
Source: Frontiers in Genetics - December 20, 2023 Category: Genetics & Stem Cells Source Type: research
Relationship Between Psychological Trauma and Irritable Bowel Syndrome and Functional Dyspepsia in a Joint Hypermobility Syndrome/Ehlers –Danlos Syndrome Patient Population
ConclusionsWe found that JHS/EDS patients with IBS and FD overlap reported significantly more traumatic exposures and ACEs compared to JHS/EDS patients without overlapping IBS or FD. JHS/EDS patients may have increased susceptibility to DGBIs, with traumatic life experiences and/or ACEs acting a secondary environmental trigger driving the subsequent development of DGBIs. (Source: Digestive Diseases and Sciences)
Source: Digestive Diseases and Sciences - December 19, 2023 Category: Gastroenterology Source Type: research
Sacral Tarlov perineurial cysts: a systematic review of treatment options
J Neurosurg Spine. 2023 Dec 15:1-14. doi: 10.3171/2023.9.SPINE23559. Online ahead of print.ABSTRACTTarlov perineurial spinal cysts (TCs) are an underrecognized cause of spinal neuropathic symptoms. TCs form within the sensory nerve root sleeves, where CSF extends distally and can accumulate pathologically. Typically, they develop at the sacral dermatomes where the nerve roots are under the highest hydrostatic pressure and lack enclosing vertebral foramina. In total, 90% of patients are women, and genetic disorders that weaken connective tissues, e.g., Ehlers-Danlos syndrome, convey considerable risk. Most small TCs are asy...
Source: Journal of Neurosurgery.Spine - December 15, 2023 Category: Neurosurgery Authors: Jan Alberto Paredes Mogica Frank Feigenbaum Julie G Pilitsis Rudolph J Schrot Anne Louise Oaklander Elise J B De Source Type: research
