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https://read.qxmd.com/read/30759870/expanding-the-clinical-and-mutational-spectrum-of-recessive-aebp1-related-classical-like-ehlers-danlos-syndrome
#1
Marco Ritelli, Valeria Cinquina, Marina Venturini, Letizia Pezzaioli, Anna Maria Formenti, Nicola Chiarelli, Marina Colombi
Ehlers-Danlos syndrome (EDS) comprises clinically heterogeneous connective tissue disorders with diverse molecular etiologies. The 2017 International Classification for EDS recognized 13 distinct subtypes caused by pathogenic variants in 19 genes mainly encoding fibrillar collagens and collagen-modifying or processing proteins. Recently, a new EDS subtype, i.e., classical-like EDS type 2, was defined after the identification, in six patients with clinical findings reminiscent of EDS, of recessive alterations in AEBP1, which encodes the aortic carboxypeptidase⁻like protein associating with collagens in the extracellular matrix...
February 12, 2019: Genes
https://read.qxmd.com/read/30736885/prevalence-of-obstructive-sleep-apnea-in-joint-hypermobility-syndrome-a-systematic-review-and-meta-analysis
#2
Karim Sedky, Thomas Gaisl, David S Bennett
STUDY OBJECTIVES: Because of associated abnormalities affecting connective tissue in various organs including airways, hypermobility syndrome has been associated with high risk for the development sleep apnea. Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) represent the most common hypermobility syndromes; therefore, the purpose of this review was to examine the prevalence of obstructive sleep apnea (OSA) in these populations. METHODS: All publications and poster presentations written in English found through August 2018 that describe the prevalence of sleep apnea among people with EDS or MFS were included...
February 4, 2019: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://read.qxmd.com/read/30721533/simplod-a-structure-integrated-database-of-collagen-lysyl-hydroxylase-lh-plod-enzyme-variants
#3
Luigi Scietti, Matteo Campioni, Federico Forneris
PLOD genes encode for procollagen lysyl hydroxylase enzymes (LH/PLOD), a family of proteins essential for collagen biosynthesis. Several mutations affect these genes causing severe disorders, such as Ehlers-Danlos and Bruck syndrome, as well a connective tissue disease with phenotype resembling osteogenesis imperfecta caused by lack of LH3 functions. The recently determined three-dimensional structures of the full-length human LH3/PLOD3 isoform, together with the structure of a fragment of a viral LH/PLOD homolog, are now allowing molecular mapping of the numerous disease-causing mutations, providing insights often suitable for the interpretation of the resulting disease phenotypes...
February 5, 2019: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://read.qxmd.com/read/30719942/diverticulosis-and-nine-connective-tissue-disorders-epidemiological-support-for-an-association
#4
Joanna B Broad, Zhenqiang Wu, Taane G Clark, David Musson, Rebekah Jaung, Bruce Arroll, Ian P Bissett, Martin J Connolly
PURPOSE: An underlying connective tissue disorder (CTD) may predispose to formation of intestinal diverticula. We assess the association of diverticulosis with nine selected CTDs, to inform the pathophysiology of diverticula. METHODS: A population-based period-prevalence study. Individuals (3.5 million New Zealand residents born 1901-1986) with a health system record 1999-2016 were grouped into those with a hospital diagnosis of diverticulosis or diverticulitis (ICD-10-AM K57), and those without...
February 5, 2019: Connective Tissue Research
https://read.qxmd.com/read/30716086/molecular-insights-in-the-pathogenesis-of-classical-ehlers-danlos-syndrome-from-transcriptome-wide-expression-profiling-of-patients-skin-fibroblasts
#5
Nicola Chiarelli, Giulia Carini, Nicoletta Zoppi, Marco Ritelli, Marina Colombi
Classical Ehlers-Danlos syndrome (cEDS) is a dominant inherited connective tissue disorder mainly caused by mutations in the COL5A1 and COL5A2 genes encoding type V collagen (COLLV), which is a fibrillar COLL widely distributed in a variety of connective tissues. cEDS patients suffer from skin hyperextensibility, abnormal wound healing/atrophic scars, and joint hypermobility. Most of the causative variants result in a non-functional COL5A1 allele and COLLV haploinsufficiency, whilst COL5A2 mutations affect its structural integrity...
2019: PloS One
https://read.qxmd.com/read/30706611/heritable-disorders-of-connective-tissue-description-of-a-data-repository-and-initial-cohort-characterization
#6
Rebecca Bascom, Jane R Schubart, Susan Mills, Thomas Smith, Linda M Zukley, Clair A Francomano, Nazli McDonnell
We describe a data repository on heritable disorders of connective tissue (HDCT) assembled by the National Institutes of Health's National Institute on Aging (NIA) Intramural Research Program between 2001 and 2013. Participants included affected persons with a wide range of heritable connective tissue phenotypes, and unaffected family members. Elements include comprehensive history and physical examination, standardized laboratory data, physiologic measures and imaging, standardized patient-reported outcome measures, and an extensive linked biorepository...
February 1, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30703284/factors-affecting-quality-of-life-in-children-and-adolescents-with-hypermobile-ehlers-danlos-syndrome-hypermobility-spectrum-disorders
#7
Weiyi Mu, Michael Muriello, Julia L Clemens, You Wang, Christy H Smith, Phuong T Tran, Peter C Rowe, Clair A Francomano, Antonie D Kline, Joann Bodurtha
Hypermobile Ehlers-Danlos syndrome (hEDS) is a hereditary disorder of connective tissue, often presenting with complex symptoms can include chronic pain, fatigue, and dysautonomia. Factors influencing functional disability in the pediatric hEDS population are incompletely studied. This study's aims were to assess factors that affect quality of life in children and adolescents with hEDS. Individuals with hEDS between the ages 12-20 years and matched parents were recruited through retrospective chart review at two genetics clinics...
January 31, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30697977/a-case-of-broken-bones-and-systems-the-threat-of-irresponsible-testimony
#8
Natasha Shur
A 2-month-old healthy baby presented to the emergency room with an arm that was not moving and was found to have multiple and extensive fractures of her long bones. An extensive medical work-up was done, and the hospital's multidisciplinary child abuse team was consulted, including child protection, genetics, radiology, and general pediatrics. It was determined that the history, clinical findings, radiographic findings, and laboratory findings were consistent with child abuse. Child protection services removed the child from the home, and for the next 10 months, the infant was well, and did not sustain a single new fracture...
January 29, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30681372/the-genetics-of-pneumothorax
#9
Philip M Boone, Rachel M Scott, Stefan J Marciniak, Elizabeth P Henske, Benjamin A Raby
A genetic influence on spontaneous pneumothoraces - those occurring without a traumatic or iatrogenic cause - is supported by several lines of evidence: 1) Pneumothorax can cluster in families (i.e. familial spontaneous pneumothorax); 2) Mutations in the FLCN gene have been found in both familial and sporadic cases; and 3) Pneumothorax is a known complication of several genetic syndromes. Herein we review known genetic contributions to both sporadic and familial pneumothorax. We summarize the pneumothorax-associated genetic syndromes, including Birt-Hogg-Dubé syndrome, Marfan syndrome, vascular (type IV) Ehlers-Danlos syndrome, alpha-1-antitrypsin deficiency, tuberous sclerosis complex/lymphangioleiomyomatosis (LAM), Loeys-Dietz syndrome, cystic fibrosis, homocystinuria, and cutis laxa, among others...
January 25, 2019: American Journal of Respiratory and Critical Care Medicine
https://read.qxmd.com/read/30677842/retracted-ehlers-danlos-syndrome-caused-by-the-c-934c-t-p-arg312cys-mutation-in-col1a1-gene-an-italian-family-without-cardiovascular-events
#10
Francesca Cortini, Barbara Marinelli, Manuela Seia, Agostino Seresini, Alessandra Bassotti
The article entitled "Ehlers-Danlos syndrome caused by the c.934C>T, p. Arg312Cys mutation in COL1A1 gene: an Italian family without cardiovascular events" has been retracted because the description and characterization of the disease in a family may have been previously published. Upon publication of this article we were notified by an author of a study appearing in 2016 in another journal claiming that characteristics and symptoms of the family described closely matched their study, and that the two studies describe the same family...
September 15, 2018: Dermatology Online Journal
https://read.qxmd.com/read/30672816/prevalence-of-functional-gi-diseases-and-pelvic-floor-symptoms-in-marfan-syndrome-and-ehlers-danlos-syndrome-a-national-cohort-study
#11
Judy Nee, Saikiran Kilaru, John Kelley, Sveta S Oza, William Hirsch, Sarah Ballou, Anthony Lembo, Jacqueline Wolf
BACKGROUND AND AIMS: Prior studies have shown a high prevalence of gastrointestinal (GI) symptoms, diagnoses of functional GI diseases (FGIDs), and pelvic floor symptoms associated with Ehlers-Danlos syndrome (EDS). It is unclear if Marfan syndrome (MFS), another common hereditary noninflammatory connective tissue disorder, is also associated these symptoms. This study evaluates the prevalence of and compares FGIDs and pelvic floor symptoms in a national cohort of EDS and MFS patients...
January 21, 2019: Journal of Clinical Gastroenterology
https://read.qxmd.com/read/30668708/bi-allelic-aebp1-mutations-in-two-patients-with-ehlers-danlos-syndrome
#12
Delfien Syx, Inge De Wandele, Sofie Symoens, Riet De Rycke, Olivier Hougrand, Nicol Voermans, Anne De Paepe, Fransiska Malfait
The Ehlers-Danlos syndromes (EDS) are a clinically and molecularly diverse group of heritable connective tissue disorders caused by defects in a wide range of genes. Recently, biallelic loss-of-function mutations in the AEBP1 gene were reported in three families with an autosomal recessive EDS-like condition characterized by thin and hyperextensible skin, poor wound healing with prominent atrophic scarring, joint hypermobility and osteoporosis. Using whole exome sequencing, we identified novel bi-allelic AEBP1 variants in two unrelated adult patients, previously diagnosed with an undefined EDS type which shows important clinical resemblance to several other EDS subtypes...
January 22, 2019: Human Molecular Genetics
https://read.qxmd.com/read/30656563/fragility-of-life-recurrent-intestinal-perforation-due-to-vascular-ehlers-danlos-syndrome
#13
Lindsay A Sceats, Preeti A Sukerkar, Shyam S Raghavan, Alaleh Esmaeili Shandiz, Andrew Shelton, Cindy Kin
No abstract text is available yet for this article.
January 17, 2019: Digestive Diseases and Sciences
https://read.qxmd.com/read/30648369/tetrad-presentation-of-non-syndromic-odontogenic-keratocyst-an-uphill-diagnostic-and-therapeutic-challenge
#14
Varshini Marimuthu, Urvashi Ashwin Shetty, Pushparaja Shetty
Odontogenic keratocyst (OKC), in the last decade sceptically referred to as keratocystic odontogenic tumor (KCOT), is known for its subclinical extensive growth potential and significant rate of recurrences. Odontogenic keratocyst, being the third most common cystic lesion (10-20%) of the maxillofacial region, is often recognized as a sporadic lesion and is well-documented in the literature. Multiple presentation of these cysts over a lifetime is relatively uncommon and is usually seen in conjunction with nevoid basal cell carcinoma syndrome (NBCC), orofacial digital syndrome, Noonan syndrome, Ehlers-Danlos syndrome, Simpson-Golabi-Behmel syndrome, or other syndromes...
October 2018: Dental and medical problems
https://read.qxmd.com/read/30630391/percutaneous-embolization-of-an-inferior-mesenteric-artery-aneurysm-in-a-patient-with-type-iv-ehlers-danlos-syndrome
#15
Qasim Rahman, Sailen G Naidu, Brian W Chong, William M Stone
Ehlers-Danlos syndrome (EDS) refers to a group of genetic disorders involving the connective tissues. Type IV EDS impairs type III collagen that is responsible for vessel integrity. Patients with type IV EDS are susceptible to vascular and visceral complications, including aortic aneurysms, pseudoaneurysms, dissections, and spontaneous rupture of internal organs. Treating aneurysms with open surgery versus endovascular techniques each carry a unique risk-to-benefit ratio that must be applied to each individual carefully...
January 10, 2019: Vascular and Endovascular Surgery
https://read.qxmd.com/read/30627513/ehlers-danlos-syndrome-with-infective-endocarditis-a-case-report-with-literature-review
#16
Yang Jiao, Mark S Rasnake, Michael T McCormack, J Francis Turner
We report a patient with Ehlers-Danlos syndrome and mitral valve infective endocarditis. The case was complicated due to multiorgan involvement and initially diagnosed as hand-foot-and-mouth disease. The patient was transferred to our hospital with cerebral septic emboli and bilateral lower extremity emboli requiring early surgery. Complications of this syndrome and surgical risks are discussed in this report.
2019: IDCases
https://read.qxmd.com/read/30626862/anesthetic-management-for-ehlers-danlos-syndrome-hypermobility-type-complicated-by-local-anesthetic-allergy-a-case-report
#17
Alexandra E Cesare, Lorenzo C Rafer, Conrad S Myler, Kristin B Brennan
BACKGROUND Ehlers-Danlos syndrome, hypermobility type is characterized by increased extensibility, permeability, and fragility of the affected cartilaginous tissues, including the trachea, larynx, and skin. Anesthetic considerations for patients with this syndrome include intubation difficulties secondary to the collapse of fibro-elastic tissues in the trachea and a reported resistance to local anesthetics. CASE REPORT Our patient was a 22-year-old G4P0030 woman with a history of morbid obesity, seizures, Barrett's esophagus, hypermobility being evaluated for Ehlers-Danlos syndrome, and anaphylaxis to an unknown local anesthetic who was scheduled for cesarean delivery...
January 10, 2019: American Journal of Case Reports
https://read.qxmd.com/read/30624009/use-of-prescription-opioid-and-other-drugs-among-a-cohort-of-persons-with-ehlers-danlos-syndrome-a-retrospective-study
#18
Jane R Schubart, Amber Schilling, Eric Schaefer, Rebecca Bascom, Clair Francomano
Against the backdrop of increased opioid prescribing in the United States and the associated high rate of side effects, dependence, and addiction, our study examined how opioids and other medications are being used among persons with Ehlers-Danlos syndrome (EDS). EDS is a set of heritable connective tissue disorders with high symptom burden, including chronic pain. Prescription medication use among persons with EDS was compared to a cohort of matched controls using 10 years of administrative claims data from a large database of privately insured patients (2005-2014)...
January 9, 2019: American Journal of Medical Genetics. Part A
https://read.qxmd.com/read/30623691/cervical-artery-dissection-fibromuscular-dysplasia-versus-vascular-ehlers-danlos-syndrome
#19
Caroline Henrard, Hendrica Belge, Sophie Fastré, Silvia Di Monaco, Nicole Revencu, Frank Hammer, Agnès Pasquet, Alexandre Persu
We report the case of a 42-year-old patient referred for suspicion of fibromuscular dysplasia in the context of a carotid artery dissection occurring after a minor trauma. Initial complaints included left hemicrania, lateral diplopia with left 6th cranial nerve palsy and pulsatile tinnitus. The work-up disclosed a large left carotid-cavernous fistula, as well as more proximal carotid lesions compatible with multifocal fibromuscular dysplasia. Personal history included colonic and uterine perforation. Family history disclosed a fatal hemorrhage due to rupture of a splenic artery aneurysm in the father and an iliac dissection in the sister...
January 9, 2019: Blood Pressure
https://read.qxmd.com/read/30619980/late-conversion-after-endovascular-abdominal-aortic-aneurysm-repair-in-a-patient-with-ehlers-danlos-syndrome
#20
Georgios Karaolanis, Özgun Sensebat, Giovanni Torsello, Theodosios Bisdas, Konstantinos P Donas
Vascular Ehlers-Danlos syndrome is associated with life-threatening events. The management of the disease is challenging because of the emergency presentation of symptoms and the tissue friability of the aorta. We describe the successful treatment of a late type I endoleak after previous EVAR.
March 2019: Journal of Vascular Surgery Cases and Innovative Techniques
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