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https://www.readbyqxmd.com/read/29216800/vascular-ehlers-danlos-syndrome-with-a-novel-missense-col3a1-mutation-present-with-pulmonary-complications-and-iliac-arterial-dissection
#1
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
#2
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
#3
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
#4
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
#5
Jaime Vengoechea
No abstract text is available yet for this article.
November 12, 2017: 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
#6
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
#7
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
#8
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
#9
https://www.readbyqxmd.com/read/29099499/carotid-cavernous-fistula-current-concepts-in-aetiology-investigation-and-management
#10
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
#11
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
https://www.readbyqxmd.com/read/29045560/inflammatory-gastrointestinal-diseases-associated-with-pd-1-blockade-antibodies
#12
M Collins, J M Michot, F X Danlos, C Mussini, E Soularue, C Mateus, D Loirat, A Buisson, I Rosa, O Lambotte, S Laghouati, N Chaput, C Coutzac, A L Voisin, J C Soria, A Marabelle, S Champiat, C Robert, F Carbonnel
Background: Immune check-point blockade agents have shown clinical activity in cancer patients but are associated with immune-related adverse events that could limit their development. The aim of this study was to describe the gastrointestinal immune-related adverse events (GI-irAE) in patients with cancer treated with anti-PD-1. Methods: this is a retrospective study of consecutive adult patients who had a suspected GI-irAE due to anti-PD-1 antibodies between 2013 and 2016...
November 1, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29041819/subjective-health-complaints-and-illness-perception-amongst-adults-with-joint-hypermobility-syndrome-ehlers-danlos-syndrome-hypermobilitytype-a-cross-sectional-study
#13
Lena Hope, Birgit Juul-Kristensen, Helene Løvaas, Camilla Løvvik, Silje Maeland
OBJECTIVE: To investigate the prevalence and severity of subjective health complaints and describe illness perception in a population of Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type. METHOD: This study was a postal survey with a questionnaire battery on demographic data, subjective health complaints inventory, and illness perception. A total of 110 individuals diagnosed with Joint Hypermobility Syndrome or Ehlers-Danlos Syndrome-Hypermobile Type from two specialized hospitals in Norway were offered participation...
October 17, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/29032848/-ehlers-danlos-syndromes
#14
D-P Germain
Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inheritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and cutaneous fragility with delayed wound healing. Over and above these common features, they differ in the presence or absence of various organ and tissue abnormalities, and differences in genetic causal mechanisms and degree of severity. They are complex and multisystem diseases, with the majority being highly disabling because of major joint problems and neurosensory deficiencies, and in some cases, they may be life-threatening due to associated complications, especially vascular disorders...
December 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/29024828/a-classical-ehlers-danlos-syndrome-family-with-incomplete-presentation-diagnosed-by-molecular-testing
#15
Marina Colombi, Chiara Dordoni, Valeria Cinquina, Marina Venturini, Marco Ritelli
The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed...
October 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28986003/postural-tachycardia-in-hypermobile-ehlers-danlos-syndrome-a-distinct-subtype
#16
Mitchell G Miglis, Brittany Schultz, Srikanth Muppidi
INTRODUCTION: It is not clear if patients with postural tachycardia syndrome (POTS) and Ehlers-Danlos syndrome (hEDS) differ from patients with POTS due to other etiologies. We compared the results of autonomic testing and healthcare utilization in POTS patients with and without hEDS. METHODS: Patients with POTS+hEDS (n=20) and POTS controls without hypermobility (n=20) were included in the study. All patients underwent autonomic testing, and the electronic medical records were reviewed to determine the number and types of medications patients were taking, as well as the number of outpatient, emergency department, and inpatient visits over the prior year...
October 2, 2017: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/28981071/vascular-phenotypes-in-nonvascular-subtypes-of-the-ehlers-danlos-syndrome-a-systematic-review
#17
REVIEW
Sanne D'hondt, Tim Van Damme, Fransiska Malfait
PurposeWithin the spectrum of the Ehlers-Danlos syndromes (EDS), vascular complications are usually associated with the vascular subtype of EDS. Vascular complications are also observed in other EDS subtypes, but the reports are anecdotal and the information is dispersed. To better document the nature of vascular complications among "nonvascular" EDS subtypes, we performed a systematic review.MethodsWe queried three databases for English-language studies from inception until May 2017, documenting both phenotypes and genotypes of patients with nonvascular EDS subtypes...
October 5, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28967365/hypermobility-the-ehlers-danlos-syndromes-and-chronic-pain
#18
REVIEW
Delfien Syx, Inge De Wandele, Lies Rombaut, Fransiska Malfait
Chronic widespread pain is a common complaint among individuals affected by generalised joint hypermobility. In the absence of other conditions that cause chronic pain, these individuals are usually diagnosed with joint hypermobility syndrome (JHS). JHS is a multifactorial trait with a strong genetic basis, but no specific genetic markers. Clinical overlap of JHS is seen with heritable connective tissue disorders, particularly with the Ehlers-Danlos syndrome, hypermobile type (hEDS). The Ehlers-Danlos syndromes (EDS) comprise a heterogeneous group of rare monogenic conditions that are characterised by joint hypermobility, skin and vascular fragility and generalised connective tissue friability, and are caused by genetic defects in an array of extracellular matrix genes...
September 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28961036/ehlers-danlos-complex-chiari-and-cranio-cervical-fixation-how-best-should-we-treat-patients-with-hypermobility
#19
EDITORIAL
Andrew R Brodbelt, Graham Flint
No abstract text is available yet for this article.
August 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28942401/fulminant-myocardial-bleeding-another-clinical-course-of-vascular-ehlers-danlos-syndrome
#20
Masahide Tokue, Hidehiko Hara, Kenji Kurosawa, Masato Nakamura
Vascular Ehlers-Danlos Syndrome (vEDS) is a dominantly inherited connective tissue disorder characterised by colon rupture and arterial aneurysm, dissection and rupture. A patient was diagnosed with vEDS after a spontaneous colon rupture when he was brought to our institute because of sudden chest pain. An ECG revealed wide regional ST elevation, which was initially suggestive of acute myocarditis. On the second day, haemodynamics suddenly deteriorated because of a rapid accumulation of bloody pericardial effusion, and the patient died...
September 23, 2017: BMJ Case Reports
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