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Ehler Danlos

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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
#1
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
#2
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
#3
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
#4
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
#5
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
https://www.readbyqxmd.com/read/29291401/wound-healing-related-properties-detected-in-an-experimental-model-with-a-collagen-gel-contraction-assay-are-affected-in-the-absence-of-tenascin-x
#6
Kei Hashimoto, Naoyo Kajitani, Yasunori Miyamoto, Ken-Ichi Matsumoto
Patients with tenascin-X (TNX)-deficient type Ehlers-Danlos syndrome (EDS) do not exhibit delayed wound healing, unlike classic type EDS patients, who exhibit mutations in collagen genes. Similarly, in TNX-knockout (KO) mice, wound closure of the skin is normal even though these mice exhibit a reduced breaking strength. Therefore, we speculated that the wound healing process may be affected in the absence of TNX. In this study, to investigate the effects of TNX absence on wound healing-related properties, we performed collagen gel contraction assays with wild-type (WT) and TNX-KO mouse embryonic fibroblasts (MEFs)...
December 29, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/29261580/ehlers-danlos-syndrome-type-ivb-and-tracheobronchomegaly
#7
Saniye Girit, Ebru Senol, Yakup Cag, Ozge Karatas, Tamer Baysal
Tracheobronchomegaly (TBM) is a rare disease of unknown etiology, characterized by dilatation of the trachea and main bronchi. Despite its rarity, TBM has been reported to accompany several conditions, particularly Ehlers-Danlos syndrome. Herein, we report on a 15-year-old patient who was diagnosed with TBM on the basis of radiologic and endoscopic findings and with Ehlers-Danlos syndrome type IVB presenting with marfanoid features, severe kyphoscoliosis, increased skin elasticity, and ongoing hypotonia since the neonatal period...
January 2018: Journal of Bronchology & Interventional Pulmonology
https://www.readbyqxmd.com/read/29247552/ehlers-danlos-syndrome-in-a-young-woman-with-anorexia-nervosa-and-complex-somatic-symptoms
#8
Michelle Lee, Mattias Strand
The Ehler-Danlos syndromes (EDS) are a group of clinically heterogeneous connective tissue disorders characterized by joint hypermobility, hyperextensibility of the skin, and a general connective tissue fragility that can induce symptoms from multiple organ systems. We present a case of comorbid anorexia nervosa and EDS in a 23-year old woman with a multitude of somatic symptoms that were initially attributed to the eating disorder but that were likely caused by the underlying EDS. Various EDS symptoms, such as gastrointestinal complaints, smell and taste abnormalities, and altered somatosensory awareness may resemble or mask an underlying eating disorder, and vice versa...
December 16, 2017: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29233360/single-ventricle-palliation-in-a-4-year-old-with-ehlers-danlos-syndrome
#9
Zach M DeBoard, Aaron W Eckhauser, Eric Griffiths
We report the case of a 4-year-old boy with Ehlers-Danlos syndrome undergoing single-ventricle palliation for an unbalanced atrioventricular canal defect. No reports of single-ventricle palliation in the setting of connective tissue disorders exist in the current literature. Unique findings on the patient's preoperative imaging included a disproportionately large neoaortic root and a regurgitant atrioventricular valve, which may foretell the need for future intervention.
January 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29216800/vascular-ehlers-danlos-syndrome-with-a-novel-missense-col3a1-mutation-present-with-pulmonary-complications-and-iliac-arterial-dissection
#10
Guangchao Gu, Hang Yang, Lijia Cui, Yuanyuan Fu, Fangda Li, Zhou Zhou, Yuehong Zheng
Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. Pulmonary complications in vEDS are rare. We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the iliac artery at different stages of his life. Vascular Ehlers-Danlos syndrome was diagnosed based on clinical manifestations and confirmed by the identification of COL3A1 gene mutation. Due to high bleeding tendency and weak cardiopulmonary capacity, conservative treatment was taken for him...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29206923/vascular-abnormalities-in-the-placenta-of-chst14-fetuses-implications-in-the-pathophysiology-of-perinatal-lethality-of-the-murine-model-and-vascular-lesions-in-human-chst14-d4st1-deficiency
#11
Takahiro Yoshizawa, Shuji Mizumoto, Yuki Takahashi, Shin Shimada, Kazuyuki Sugahara, Jun Nakayama, Shin'ichi Takeda, Yoshihiro Nomura, Yuko Nitahara-Kasahara, Takashi Okada, Kiyoshi Matsumoto, Shuhei Yamada, Tomoki Kosho
Collagen is one of the most important components of the extracellular matrix that is involved in the strength of tissues, cell adhesion, and cell proliferation. Mutations in several collagen and post-translational modification enzyme genes cause Ehlers-Danlos syndrome (EDS) characterized by joint and skin hyperextensibility as well as fragility of various organs. Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) is a critical enzyme for biosynthesis of dermatan sulfate, a side chain of various proteoglycans including biglycan that regulates collagen fibrils through their interaction...
December 1, 2017: Glycobiology
https://www.readbyqxmd.com/read/29193209/cicatricial-organizing-pneumonia-mimicking-a-fibrosing-interstitial-pneumonia
#12
Andrew Churg, Joanne L Wright, AnaMaria Bilawich
AIMS: Organizing pneumonia (OP) is composed of loose granulation tissue plugs in distal airspaces; these disappear with steroid treatment. Recently a variant labeled "cicatricial" OP has been described in which the granulation tissue organized to much denser fibrous tissue but still retained the usual pattern of OP. Here we report 10 patients thought to have an interstitial lung disease, and who on biopsy had a variant of cicatricial OP characterized by linear bands or small nodular masses of dense fibrous tissue that does not resemble ordinary OP...
November 29, 2017: Histopathology
https://www.readbyqxmd.com/read/29160015/response-to-in-reply-to-mast-cell-disorders-in-ehlers-danlos-syndrome-jaime-vengoechea-department-of-human-genetics-emory-university
#13
Suranjith L Seneviratne, Anne Maitland, Lawrence B Afrin
No abstract text is available yet for this article.
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130629/in-reply-to-mast-cell-disorders-in-ehlers-danlos-syndrome
#14
Jaime Vengoechea
No abstract text is available yet for this article.
January 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29125009/exercise-beliefs-and-behaviours-of-individuals-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobility-type
#15
Jane V Simmonds, Anthony Herbland, Alan Hakim, Nelly Ninis, William Lever, Qasim Aziz, Mindy Cairns
PURPOSE: To explore exercise beliefs and behaviours of individuals with Joint Hypermobility syndrome/Ehlers-Danlos syndrome - hypermobility type and to explore patient experiences of physiotherapy. METHODS: A cross sectional questionnaire survey design was used to collect quantitative and qualitative data from adult members of the Hypermobility Syndromes Association and Ehlers-Danlos Syndrome Support UK. Descriptive and inferential statistics were used to analyse the data...
November 10, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29121166/characteristics-diagnosis-and-management-of-ehlers-danlos-syndromes-a-review
#16
Andrew W Joseph, Shannon S Joseph, Clair A Francomano, Theda C Kontis
Importance: Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders. Patients with EDSs can develop excessive facial rhytids, nasal deformities, and facial scarring, for which they may seek consultation with a facial plastic surgeon. Ehlers-Danlos syndromes can be associated with serious surgical complications and should be identified preoperatively to facilitate optimal treatment. To our knowledge, no management guidelines for patients with EDSs exist in the facial plastic surgery literature...
November 9, 2017: JAMA Facial Plastic Surgery
https://www.readbyqxmd.com/read/29113876/-indirect-causes-of-maternal-deaths-except-stroke-cardiovascular-diseases-and-infections-results-from-the-french-confidential-enquiry-into-maternal-deaths-2010-2012
#17
V Le Guern, M Rossignol, A Proust
Maternal deaths of indirect causes result of a preexisting disease or an affection appeared during the pregnancy without any relationship with obstetrical causes, but worsened by the physiological effects of pregnancy. Among the 23 deaths of indirect cause related to a preexisiting pathology, 22 (96 %) have been analyzed by the expert comity. A known or preexisting chronic disease was documented in 16 patients (sick-cell disorder, n=3, treated epilepsy, n=3, intracerebral carvenomas, n=1, multifocal glial tumor, n=1, breast cancer, n=1, systemic lupus, n=1, diabetes mellitus, n=3, antiphospholipid syndrome, n=1)...
November 4, 2017: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29106635/the-multisystemic-nature-and-natural-history-of-joint-hypermobility-syndrome-and-ehlers-danlos-syndrome-in-children-new-research-data-conflict-with-widely-held-views
#18
https://www.readbyqxmd.com/read/29099499/carotid-cavernous-fistula-current-concepts-in-aetiology-investigation-and-management
#19
A D Henderson, N R Miller
A carotid-cavernous fistula (CCF) is an abnormal communication between arteries and veins within the cavernous sinus and may be classified as either direct or dural. Direct CCFs are characterized by a direct connection between the internal carotid artery (ICA) and the cavernous sinus, whereas dural CCFs result from an indirect connection involving cavernous arterial branches and the cavernous sinus. Direct CCFs frequently are traumatic in origin and also may be caused by rupture of an ICA aneurysm within the cavernous sinus, Ehlers-Danlos syndrome type IV, or iatrogenic intervention...
November 3, 2017: Eye
https://www.readbyqxmd.com/read/29050841/hemothorax-in-vascular-ehlers-danlos-syndrome
#20
Kevin Álvarez, López Jordi, Hernández Jose Angel
Vascular Ehlers-Danlos syndrome (EDS IV) is a rare genetic disorder characterized by an alteration in the COL3A1 gene which encodes type III collagen. It is the most common type of collagen in vessels of medium size and certain organs such as the intestines and the uterus. The alteration of this type of collagen produces aneurisms and ruptures of vessels and organs. A high level of clinical suspicion is required for diagnosis. It is a complex disease whose management requires a multidisciplinary team to treat the different complications that may occur...
October 16, 2017: Reumatología Clinica
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