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Ehlers-Danlos syndrome

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https://www.readbyqxmd.com/read/29450629/congenital-cervical-kyphosis-in-an-infant-with-ehlers-danlos-syndrome
#1
Andrew J Kobets, Daniel Komlos, John K Houten
BACKGROUND: Ehler-Danlos syndome (EDS) refers to a group of heritable connective tissue disorders; rare manifestations of which are cervical kyphosis and clinical myelopathy. Surgical treatment is described for the deformity in the thoracolumbar spine in adolescents but not for infantile cervical spine. Internal fixation for deformity correction in the infantile cervical spine is challenging due to the diminutive size of the bony anatomy and the lack of spinal instrumentation specifically designed for young children...
February 15, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29446032/attention-deficit-hyperactivity-disorder-joint-hypermobility-related-disorders-and-pain-expanding-body-mind-connections-to-the-developmental-age
#2
REVIEW
Carolina Baeza-Velasco, Lorenzo Sinibaldi, Marco Castori
Attention-deficit/hyperactivity disorder (ADHD) and generalized joint hypermobility (JH) are two separated conditions, assessed, and managed by different specialists without overlapping interests. Recently, some researchers highlighted an unexpected association between these two clinical entities. This happens in a scenario of increasing awareness on the protean detrimental effects that congenital anomalies of the connective tissue may have on human health and development. To review pertinent literature to identify possible connections between ADHD and GJH, special emphasis was put on musculoskeletal pain and syndromic presentations of GJH, particularly the hypermobile Ehlers-Danlos syndrome...
February 14, 2018: Attention Deficit and Hyperactivity Disorders
https://www.readbyqxmd.com/read/29443807/multimodal-imaging-of-angioid-streaks-associated-with-turner-syndrome
#3
Bing Q Chiu, Edmund Tsui, Syed Amal Hussnain, Irene A Barbazetto, R Theodore Smith
PURPOSE: To report multimodal imaging in a novel case of angioid streaks in a patient with Turner syndrome with 10-year follow-up. METHODS: Case report of a patient with Turner syndrome and angioid streaks followed at Bellevue Hospital Eye Clinic from 2007 to 2017. Fundus photography, fluorescein angiography, and optical coherence tomography angiography were obtained. RESULTS: Angioid streaks with choroidal neovascularization were noted in this patient with Turner syndrome without other systemic conditions previously correlated with angioid streaks...
February 13, 2018: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29443383/a-b3galt6-variant-in-patient-originally-described-as-al-gazali-syndrome-and-implicating-the-er-quality-control-in-the-mechanism-of-some-%C3%AE-3galt6-pathy-mutations
#4
A Ben-Mahmoud, S Ben-Salem, M Al-Sorkhy, A John, B R Ali, L Al-Gazali
Al-Gazali syndrome encompasses several clinical features including prenatal growth retardation, large joints contractures with camptodactyly, bilateral talipes equinovarus, small mouth, anterior segment anomalies of the eyes, and early lethality. Recently, a baby with features very similar to Al-Gazali syndrome was found to have compound heterozygous variants in B3GALT6. This gene encodes Beta-1,3-galactosyltransferase 6 (β3GalT6), an essential component of the glycosaminoglycan synthesis pathway. Pathogenic variants in B3GALT6 have also been shown to cause Ehlers-Danlos syndrome spondylodysplastic type (spEDS-B3GALT6) and spondylo-epimetaphyseal dysplasia with joint laxity type I (SEMD-JL1)...
February 14, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29440159/multicentre-study-on-capsular-closure-versus-non-capsular-closure-during-hip-arthroscopy-in-danish-patients-with-femoroacetabular-impingement-fai-protocol-for-a-randomised-controlled-trial
#5
Christian Dippmann, Otto Kraemer, Bent Lund, Michael Krogsgaard, Per Hölmich, Martin Lind, Karen Briggs, Marc Philippon, Bjarne Mygind-Klavsen
INTRODUCTION: Hip arthroscopy has become a standard procedure in the treatment of hip joint pain not related to osteoarthritis or dysplasia in the young and active patient. There has been increasing focus on the contribution of the hip capsule to function and on stability following hip arthroscopy. It has been suggested that capsular closure after hip arthroscopy may prevent microinstability and macroinstability of the hip joint and reduce revision rate. However, it remains unknown whether capsular closure should be performed as a standard procedure when performing hip arthroscopies, especially in patients without additional risk factors for instability such as hypermobility or dysplasia of the hip...
February 10, 2018: BMJ Open
https://www.readbyqxmd.com/read/29439479/zinc-and-skin-disorders
#6
REVIEW
Youichi Ogawa, Manao Kinoshita, Shinji Shimada, Tatsuyoshi Kawamura
The skin is the third most zinc (Zn)-abundant tissue in the body. The skin consists of the epidermis, dermis, and subcutaneous tissue, and each fraction is composed of various types of cells. Firstly, we review the physiological functions of Zn and Zn transporters in these cells. Several human disorders accompanied with skin manifestations are caused by mutations or dysregulation in Zn transporters; acrodermatitis enteropathica (Zrt-, Irt-like protein (ZIP)4 in the intestinal epithelium and possibly epidermal basal keratinocytes), the spondylocheiro dysplastic form of Ehlers-Danlos syndrome (ZIP13 in the dermal fibroblasts), transient neonatal Zn deficiency (Zn transporter (ZnT)2 in the secretory vesicles of mammary glands), and epidermodysplasia verruciformis (ZnT1 in the epidermal keratinocytes)...
February 11, 2018: Nutrients
https://www.readbyqxmd.com/read/29403363/a-retrospective-2d-morphometric-analysis-of-adult-female-chiari-type-i-patients-with-commonly-reported-and-related-conditions
#7
Maggie S Eppelheimer, James R Houston, Jayapalli R Bapuraj, Richard Labuda, Dorothy M Loth, Audrey M Braun, Natalie J Allen, Soroush Heidari Pahlavian, Dipankar Biswas, Aintzane Urbizu, Bryn A Martin, Cormac O Maher, Philip A Allen, Francis Loth
Purpose: Researchers have sought to better understand Chiari type I malformation (CMI) through morphometric measurements beyond tonsillar position (TP). Soft tissue and bone structures within the brain and craniocervical junction have been shown to be different for CMI patients compared to healthy controls. Yet, several morphological characteristics have not been consistently associated with CMI. CMI is also associated with different prevalent conditions (PCs) such as syringomyelia, pseudotumor, Ehlers-Danlos syndrome (EDS), scoliosis, and craniocervical instability...
2018: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29388078/complications-and-recurrence-rates-of-patients-with-ehlers-danlos-syndrome-undergoing-ventral-hernioplasty-a-case-series
#8
L F Kroese, E H Mommers, C Robbens, N D Bouvy, J F Lange, F Berrevoet
PURPOSE: Ventral hernia repair is one of the most frequently performed surgical procedures, though recurrences are common. Recurrence can be caused by impaired collagen formation or maturation; hence, patients with Ehlers-Danlos syndrome (EDS) are potentially at increased risk for hernia recurrence. EDS causes altered collagen metabolism, though little is known about the influence of EDS on ventral hernioplasty outcomes. This study aims to analyze these patients to report complication rates, recurrence rates, and, if possible, to give recommendations for surgical intervention...
January 31, 2018: Hernia: the Journal of Hernias and Abdominal Wall Surgery
https://www.readbyqxmd.com/read/29381997/vascular-ehlers-danlos-syndrome-with-cryptorchidism-recurrent-pneumothorax-and-pulmonary-capillary-hemangiomatosis-like-foci-a-case-report
#9
Min A Park, So Youn Shin, Young Jin Kim, Myung Jae Park, Seung Hyeun Lee
RATIONALE: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant inherited collagen disorder caused by defects or deficiency of pro-alpha 1 chain of type III procollagen encoded by COL3A1. vEDS is characterized not only by soft tissue manifestations including hyperextensibility of skin and joint hypermobility but also by early mortality due to rupture of arteries or vital organs. Although pulmonary complications are not common, vEDS cases complicated by pneumothorax, hemothorax, or intrapulmonary hematoma have been reported...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29381979/multiple-arterial-thromboses-due-to-cystic-medial-degeneration-erdheim-gsell-a-case-report
#10
Philipp Jud, Thomas Gary, Franz Hafner, Kurt Tiesenhausen, Thomas Ott, Wolfgang Kurt Oswald, Marianne Brodmann
RATIONALE: Cystic medial degeneration Erdheim-Gsell is a vascular pathology mainly of the large vessels, which is mostly associated with Marfan syndrome or Ehlers-Danlos syndrome. The clinical findings of this entity are aneurysms of the aorta or large peripheral arteries which usually present in an acute setting due to rupture of an aneurysm. PATIENT CONCERNS: We present a case of a 43-year-old Caucasian male with histologically proven cystic medial degeneration of the lower limb vessels mimicking peripheral artery occlusive disease...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29376591/-association-of-polymorphism-of-1800255-col3a1-gene-with-pelvic-organ-prolapse-and-urinary-incontinence-in-women-preliminary-data
#11
G R Kasyan, D A Vishnevskii, L V Akulenko, Yu O Kozlova, E I Sharova, N V Tupikina, D Yu Pushkar'
RELEVANCE: Collagen type I and III have a significant role in the development of pelvic organ prolapse (POP) and urinary incontinence in women. The role of the COL3A1 gene polymorphism remains debatable. Some studies and meta-analyzes have found a direct correlation between genetic defects and POP, while other researchers have not confirmed this association. This study aimed to investigate the association of the 1800255 COL3A1 gene polymorphism with the development of POP and urinary incontinence in women...
December 2017: Urologii︠a︡
https://www.readbyqxmd.com/read/29375940/visceroptosis-and-the-ehlers-danlos-syndrome
#12
Stephen Kucera, Stephen N Sullivan
The case of a patient with visceroptosis and Ehlers-Danlos syndrome hypermobility type (RDS-HT) is reported here. The literature on this unusual but probably under-recognized complication is reviewed.
November 8, 2017: Curēus
https://www.readbyqxmd.com/read/29370293/gene-expression-of-the-two-developmentally-regulated-dermatan-sulfate-epimerases-in-the-xenopus-embryo
#13
Nadège Gouignard, Tanja Schön, Christian Holmgren, Ina Strate, Emirhan Taşöz, Franziska Wetzel, Marco Maccarana, Edgar M Pera
Chondroitin sulfate (CS)/dermatan sulfate (DS) proteoglycans are abundant on the cell surface and in the extracellular matrix and have important functions in matrix structure, cell-matrix interaction and signaling. The DS epimerases 1 and 2, encoded by Dse and Dsel, respectively, convert CS to a CS/DS hybrid chain, which is structurally and conformationally richer than CS, favouring interaction with matrix proteins and growth factors. We recently showed that Xenopus Dse is essential for the migration of neural crest cells by allowing cell surface CS/DS proteoglycans to adhere to fibronectin...
2018: PloS One
https://www.readbyqxmd.com/read/29357955/demographics-of-a-large-paediatric-postural-orthostatic-tachycardia-syndrome-program
#14
Jeffrey R Boris, Thomas Bernadzikowski
OBJECTIVE: The aim of this study was to identify and evaluate demographic and clinical features of paediatric patients with postural orthostatic tachycardia syndrome in a tertiary hospital speciality clinic. METHOD: This is a retrospective review of clinical data obtained during initial outpatient evaluation. RESULTS: A total of 708 patients met the evaluation criteria. Female patients outnumbered males, 3.45:1. Caucasians were over-represented at 94...
January 23, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29357706/cognitive-emotional-and-behavioral-considerations-for-chronic-pain-management-in-the-ehlers-danlos-syndrome-hypermobility-type-a-narrative-review
#15
Carolina Baeza-Velasco, Antonio Bulbena, Roberto Polanco-Carrasco, Roland Jaussaud
BACKGROUND: Ehlers-Danlos syndrome (EDS) hypermobility-type is the most common hereditary disorder of the connective tissue. The tissue fragility characteristic of this condition leads to multi-systemic symptoms in which pain, often severe, chronic, and disabling, is the most experienced. Clinical observations suggest that the complex patient with EDS hypermobility-type is refractory toward several biomedical and physical approaches. In this context and in accordance with the contemporary conceptualization of pain (biopsychosocial perspective), the identification of psychological aspects involved in the pain experience can be useful to improve interventions for this under-recognized pathology...
January 22, 2018: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29346445/transcriptome-analysis-of-skin-fibroblasts-with-dominant-negative-col3a1-mutations-provides-molecular-insights-into-the-etiopathology-of-vascular-ehlers-danlos-syndrome
#16
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Vascular Ehlers-Danlos syndrome (vEDS) is a dominantly inherited connective tissue disorder caused by mutations in the COL3A1 gene that encodes type III collagen (COLLIII), which is the major expressed collagen in blood vessels and hollow organs. The majority of disease-causing variants in COL3A1 are glycine substitutions and in-frame splice mutations in the triple helix domain that through a dominant negative effect are associated with the severe clinical spectrum potentially lethal of vEDS, characterized by fragility of soft connective tissues with arterial and organ ruptures...
2018: PloS One
https://www.readbyqxmd.com/read/29344653/a-novel-variant-of-osteogenesis-imperfecta-type-iv-and-low-serum-phosphorus-level-caused-by-a-val94asp-mutation-in-col1a1
#17
Qi Yang, Hong Xu, Jinsi Luo, Qinle Zhang, Bobo Xie, Sheng Yi, Xiuliang Rong, Jin Wang, Zailong Qin, Tingting Jiang, Li Lin, Yangjin Zuo, Xin Fan
Osteogenesis imperfecta (OI) is a rare congenital disorder characterized by bone fragility and fractures, and associated with bone deformity, short stature, dentin, ligament and blue‑gray eye sclera. OI is caused by a heterozygous mutation in collagen α‑1(I) chain (COL1A1) or collagen α‑2(I) chain (COL1A2) genes that encode α chains of type I collagen. Collagen α chain peptide contains an N‑propeptide, which has a role in assembly and processing of collagen. Point mutations in the N‑propeptide domain appear to trigger OI...
January 16, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29336759/robotic-rectopexy-for-rectal-prolapse-in-pediatric-patients
#18
David J Hiller, Jaime L Bohl, Kristen A Zeller
Rectal prolapse is the protrusion of the rectum out of the anus. Surgical correction can be accomplished via open and minimally invasive abdominal approaches, as well as from the perineum. Robotic rectopexy is an option for minimally invasive treatment of rectal prolapse. There are no studies that have established the efficacy of robotic rectopexy for rectal prolapse in the pediatric population. The aim of this study was to review the experience of robotic rectopexy at a single institution. This is a retrospective review of our pediatric robotic rectopexy experience from 2012 to 2015...
December 1, 2017: American Surgeon
https://www.readbyqxmd.com/read/29328753/a-critical-analysis-of-the-perioperative-management-of-patients-with-ehlers-danlos-type-iv-vascular-syndrome
#19
Justyna Martin
This article discusses the perioperative care needs of patients with Ehlers Danlos type IV (vascular) syndrome. Ehlers Danlos syndrome (EDS) is a heritable group of connective tissue disorders characterised by varying degrees of tissue, blood vessel and internal organ fragility as well as skin and joint hypermobility (De Paepe and Malfait 2012).
September 2017: Journal of Perioperative Practice
https://www.readbyqxmd.com/read/29323927/pulmonary-fibrous-nodule-with-ossifications-as-a-hint-for-vascular-ehlers-danlos-syndrome-with-missense-mutation-in-col3a1
#20
Sabina Berezowska, Andreas Christe, Deborah Bartholdi, Markus Koch, Christophe von Garnier
No abstract text is available yet for this article.
January 11, 2018: American Journal of Respiratory and Critical Care Medicine
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