keyword
MENU ▼
Read by QxMD icon Read
search

Danlos

keyword
https://www.readbyqxmd.com/read/30214474/hypermobile-ehlers-danlos-syndrome-and-pregnancy
#1
REVIEW
Akilandeswari Karthikeyan, Narayanaswamy Venkat-Raman
Ehlers-Danlos syndromes are a clinically and genetically heterogeneous group of rare inherited connective tissue disorders. Hypermobile Ehlers-Danlos syndrome is one of the common types and not infrequently encountered in pregnancy. While, in the majority of women with hypermobile Ehlers-Danlos syndrome, the pregnancy is uncomplicated, it is important to be aware of the condition in view of potential complications such as recurrent joint dislocations and history of surgical joint stabilization procedures, secondary autonomic pain and postural orthostatic tachycardia syndrome...
September 2018: Obstetric Medicine
https://www.readbyqxmd.com/read/30206794/correction-to-vascular-ehlers-danlos-syndrome-presenting-as-a-pulsatile-neck-mass-a-case-report-and-review-of-literature
#2
Bharat Maraj, Emily Harding-Theobald, Fatima Karaki
The article was originally published electronically on the publisher's internet portal (currently SpringerLink) with open access.
September 4, 2018: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/30195269/spinal-manifestations-in-12-patients-with-musculocontractural-ehlers-danlos-syndrome-caused-by-chst14-d4st1-deficiency-mceds-chst14
#3
Masashi Uehara, Tomoki Kosho, Noriaki Yamamoto, Hideaki E Takahashi, Taketoshi Shimakura, Jun Nakayama, Hiroyuki Kato, Jun Takahashi
Musculocontractural Ehlers-Danlos syndrome caused by mutations in CHST14 (mcEDS-CHST14) is a recently delineated disorder, characterized by craniofacial, skeletal, visceral, and ocular malformations; and progressive cutaneous, skeletal, vascular, and visceral fragility-related manifestations. Spinal lesions, though one of the most serious complications, have not been investigated systematically. In this study, we report detailed and comprehensive information about spinal lesions of 12 patients with a mean age at the first visit of 13...
September 8, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30178919/pain-and-sleep-quality-in-children-with-non-vascular-ehlers-danlos-syndromes
#4
Michael Muriello, Julia L Clemens, Weiyi Mu, Phuong T Tran, Peter C Rowe, Christy H Smith, Clair Francomano, Joann Bodurtha, Antonie D Kline
The objective of this study was to explore the factors contributing to quality of life in pediatric patients with non-vascular Ehlers-Danlos syndromes (EDS). Data were analyzed on 41 children with a diagnosis of non-vascular EDS from the de-identified data available from the National Institute on Aging (NIA) study of heritable disorders of connective tissue. Children under age 19 years were seen as part of a long-term evaluation project from 2003 to 2013 on a larger natural history of patients with heritable disorders of connective tissue...
September 4, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/30174402/post-fundoplication-high-resolution-esophageal-manometry-in-a-patient-with-ehlers-danlos-syndrome
#5
Vignesh Ramachandran, Kevin P Shah, Douglas S Fishman, Eric H Chiou
No abstract text is available yet for this article.
September 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/30158381/peripartum-iliac-arterial-aneurysm-and-rupture-in-a-patient-with-vascular-ehlers-danlos-syndrome-diagnosed-by-next-generation-sequencing
#6
Norimichi Koitabashi, Tomomi Yamaguchi, Daisuke Fukui, Takahide Nakano, Atsushi Umeyama, Kazuyoshi Toda, Ryuichi Funada, Masumi Ishikawa, Rie Kawamura, Kenji Okada, Atsushi Hatamochi, Tomoki Kosho, Masahiko Kurabayashi
Vascular Ehlers-Danlos syndrome (vEDS), a genetic disorder caused by mutations in procollagen type III gene (COL3A1), may lead to fatal vascular complication during peripartum period because of the arterial fragility. We experienced a case of vEDS with peripartum life-threatening arterial rapture diagnosed by next-generation sequencing (NGS) and successfully treated the vascular complications. A 25-year-old female in pregnancy at 34 weeks had sudden and acute pain in the left lower abdomen. After successful delivery, her computed tomography scan showed a dissecting aneurysm of the left common iliac artery (CIA)...
August 29, 2018: International Heart Journal
https://www.readbyqxmd.com/read/30151001/gastrointestinal-symptoms-in-marfan-syndrome-and-hypermobile-ehlers-danlos-syndrome
#7
N Inayet, J O Hayat, A Kaul, M Tome, A Child, A Poullis
Objective: Marfan syndrome (MS) is a multisystem disorder caused by a mutation in FBN1 gene. It shares some phenotypic features with hypermobile Ehlers-Danlos syndrome (EDS) such as joint hypermobility. EDS is a group of inherited heterogenous multisystem disorders characterized by skin hyperextensibility, atrophic scarring, joint hypermobility, and generalized tissue fragility. Hypermobile EDS (hEDS) is thought to be the most common type. Recent studies have suggested an association between connective tissue hypermobility and functional gastrointestinal disorders (FGDs)...
2018: Gastroenterology Research and Practice
https://www.readbyqxmd.com/read/30147886/renal-infarction-in-vascular-ehlers-danlos-syndrome-masquerading-as-pyelonephritis
#8
Khalid M Dousa, Kashif Khan, Ben Alencherry, Lin Deng, Robert A Salata
Symptoms associated with numerous diseases can be indistinguishable from those of the urinary system disorders because receptors of many visceral organs as well as the body wall transmit sensation through pain fibers shared with the kidneys. Disregarding important family background of genetic disorder can be detrimental for some patients.
August 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/30147750/application-of-immunotherapy-for-neurological-manifestations-in-hypermobile-ehlers-danlos-syndrome
#9
Manabu Araki, Youwei Lin, Hirohiko Ono, Wakiro Sato, Takashi Yamamura
Ehlers-Danlos syndrome (EDS) is a heterogeneous heritable connective tissue disorder with various neurological manifestations, including chronic pain. The neurological manifestations in EDS are often regarded as being caused by the associated musculoskeletal disorders or polyneuropathy. Here, we present two patients with hypermobile EDS (hEDS), presenting with relapsing central nervous system (CNS) manifestations. Although the two patients showed relapsing signs of CNS manifestations like multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD), they were unique in that they had widespread opioid-dependent chronic pain, which is not consistent with the symptoms of MS/NMOSD...
2018: Therapeutic Advances in Neurological Disorders
https://www.readbyqxmd.com/read/30123766/evaluation-of-temporomandibular-disorders-and-comorbidities-in-patients-with-ehler-danlos-clinical-and-digital-findings
#10
Paola Di Giacomo, Mauro Celli, Gaetano Ierardo, Antonella Polimeni, Carlo Di Paolo
Objective: The objective of this study is to recognize representative cranio-cervico-mandibular features of patients with Ehler-Danlos syndrome and associated temporomandibular disorders (TMDs), to assess a targeted and integrated treatment plan. Materials and Methods: After a diagnosis of disease, 38 individiuals with Ehler-Danlos syndrome and temporomandibular symptomatology referred were evaluated. Gnathological evaluation, according to the Diagnostic Criteria for TMDs, and radiographic imaging was performed...
July 2018: Journal of International Society of Preventive & Community Dentistry
https://www.readbyqxmd.com/read/30116408/multiple-roles-of-tenascins-in-homeostasis-and-pathophysiology-of-aorta
#11
Kyoko Imanaka-Yoshida, Ken-Ichi Matsumoto
Tenascins are a family of large extracellular matrix (ECM) glycoproteins. Four family members (tenascin-C, -R, -X, and -W) have been identified to date. Each member consists of the same types of structural domains and exhibits time- and tissue-specific expression patterns, suggesting their specific roles in embryonic development and tissue remodeling. Among them, the significant involvement of tenascin-C (TNC) and tenascin-X (TNX) in the progression of vascular diseases has been examined in detail. TNC is strongly up-regulated under pathological conditions, induced by a number of inflammatory mediators and mechanical stress...
June 25, 2018: Annals of Vascular Diseases
https://www.readbyqxmd.com/read/30094145/posterior-glenohumeral-capsular-reconstruction-using-an-acellular-dermal-allograft
#12
Jillian Karpyshyn, Erin E Gordey, Catherine M Coady, Ivan H Wong
Posterior shoulder instability is an uncommon and challenging cause of shoulder pain and dysfunction. Surgical management has less reliable results and higher failure rates compared with techniques for anterior shoulder instability. The presence of generalized ligamentous laxity further complicates options for surgical management. If primary capsulolabral repair fails, controversy exists as to the optimal revision procedure. This technical description and video present an arthroscopic technique for reconstruction of the posterior glenohumeral capsule with an acellular dermal allograft to treat posterior instability in a patient with Ehlers-Danlos syndrome and a previously failed posterior capsular plication...
July 2018: Arthroscopy Techniques
https://www.readbyqxmd.com/read/30090135/compressive-myelopathy-secondary-to-atlantoaxial-dislocation-in-a-child-with-congenital-hypothyroidism-a-case-report
#13
Dayanand Hota, Mahesh Kumar, M Kavitha, Jaya S Kaushik
Atlantoaxial dislocation (AAD) occurs secondary to joint laxity between C1 and C2 vertebrae, resulting in loss of normal articulation and movement. Etiology of AAD could be genetic, inflammatory, or rarely traumatic. Majority of children with AAD are syndromic (such as Down syndrome) or genetic (such as Ehler-Danlos syndrome or Marfan syndrome). To the best of literature search, there were no reports of AAD among children with congenital hypothyroidism. This case highlights an uncommon association of AAD presenting with features of compressive myelopathy in a child with congenital hypothyroidism...
April 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/30089473/flna-mutations-in-surviving-males-presenting-with-connective-tissue-findings-two-new-case-reports-and-review-of-the-literature
#14
Elyssa Cannaerts, Anju Shukla, Mensuda Hasanhodzic, Maaike Alaerts, Dorien Schepers, Lut Van Laer, Katta M Girisha, Iva Hojsak, Bart Loeys, Aline Verstraeten
BACKGROUND: Mutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death. CASE PRESENTATION: We provide a genotype- and phenotype-oriented literature overview of FLNA hemizygous mutations and report on two live-born male FLNA mutation carriers...
August 8, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/30084207/clinical-features-of-children-adolescents-and-adults-with-coexisting-hypermobility-syndromes-and-von-willebrand-disease
#15
Sarah A Hall, Emily Riehm Meier, Sweta Gupta, Charles Nakar, Angeli Rampersad, Nihal Bakeer, Brandon Hardesty, Manjusha Kumar
We present five patients with coexistent von Willebrand disease (VWD) and Ehlers-Danlos syndrome and 21 with VWD and joint hypermobility. Females outnumbered males ten to three, Beighton scores were documented in 58% (15 of 26 patients), and several patients experienced moderately severe bleeding. We believe coexistent hypermobility disorder with VWD potentially affects bleeding severity and want to raise awareness among hematologists. Evaluation by geneticists is recommended because of the varying complexities observed across the disease spectrum, and the availability of new genetic tests should lead to more accurate diagnoses for the various hypermobility disorders...
August 7, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/30082390/zebrafish-type-i-collagen-mutants-faithfully-recapitulate-human-type-i-collagenopathies
#16
Charlotte Gistelinck, Ronald Y Kwon, Fransiska Malfait, Sofie Symoens, Matthew P Harris, Katrin Henke, Michael B Hawkins, Shannon Fisher, Patrick Sips, Brecht Guillemyn, Jan Willem Bek, Petra Vermassen, Hanna De Saffel, Paul Eckhard Witten, MaryAnn Weis, Anne De Paepe, David R Eyre, Andy Willaert, Paul J Coucke
The type I collagenopathies are a group of heterogeneous connective tissue disorders, that are caused by mutations in the genes encoding type I collagen and include specific forms of osteogenesis imperfecta (OI) and the Ehlers-Danlos syndrome (EDS). These disorders present with a broad disease spectrum and large clinical variability of which the underlying genetic basis is still poorly understood. In this study, we systematically analyzed skeletal phenotypes in a large set of zebrafish, with diverse mutations in the genes encoding type I collagen, representing different genetic forms of human OI, and a zebrafish model resembling human EDS, which harbors a number of soft connective tissues defects, typical of EDS...
August 21, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/30070022/exploring-relationships-between-joint-hypermobility-and-neurodevelopment-in-children-4-13-years-with-hereditary-connective-tissue-disorders-and-developmental-coordination-disorder
#17
Caterina Piedimonte, Roberta Penge, Silvia Morlino, Isabella Sperduti, Andrea Terzani, Maria Teresa Giannini, Marina Colombi, Paola Grammatico, Francesco Cardona, Marco Castori
Joint hypermobility (JH) is a common, though largely ignored physical trait with increasing clinical reverberations. A few papers suggest a link between JH and selected neurodevelopmental disorders, such as developmental coordination disorder (DCD). JH is also the hallmark of various hereditary connective tissue disorders (HCTDs). Children with HCTDs may present abnormal neurodevelopment but its manifestations remain undetermined. This study examined 23 children (group 1), aged 4-13 years, with different HCTDs (i...
September 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/30067199/-is-it-possible-to-use-immune-checkpoint-inhibitors-in-patients-with-autoimmune-or-inflammatory-disease
#18
François-Xavier Danlos, Olivier Lambotte
No abstract text is available yet for this article.
June 2018: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/30063214/hypermobile-ehlers-danlos-syndrome
#19
Irman Forghani
Efforts on recognition, diagnosis and management of the presumed, most common connective tissue disorder, Hypermobile Ehlers Danlos syndrome have been an ongoing challenge, decades after the description of this condition. The recent international consortium proposed a revised Ehlers Danlos syndrome classification, an update much needed since Villefranche nosology, in 1998. Hypermobile Ehlers Danlos is the only subtype in these groups of syndromes with no known genetic cause(s). This effort brought significant attention to this often underappreciated condition...
July 31, 2018: Balkan Medical Journal
https://www.readbyqxmd.com/read/30063091/mitral-valve-prolapse-and-aortic-root-dilation-in-adults-with-hypermobile-ehlers-danlos-syndrome-and-related-disorders
#20
Stephanie B Asher, Rensa Chen, Staci Kallish
Ehlers-Danlos syndromes (EDSs) are a group of inherited connective tissue disorders, and among them, classical EDS (cEDS) and hypermobile EDS (hEDS) are the most common. Mitral valve prolapse (MVP) and aortic root dilation (ARD) have previously been reported to occur at an increased frequency within cEDS and hEDS. More recently, a study performed in the pediatric population did not show increased prevalence (Ritter et al., American Journal of Medical Genetics Part A, 173(6), 1467-1472, 2017). The purpose of this study was to review a large population of individuals with cEDS, hEDS, and hypermobility spectrum disorders to determine the frequency of MVP and ARD...
July 31, 2018: American Journal of Medical Genetics. Part A
keyword
keyword
475
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"