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Anna Aghajanyan, Aleksandra Fucic, Leila Tskhovrebova, Olga Gigani, Pasko Konjevoda
Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility with prevalence 1:20 000. Its incidence is probably underestimated due to unknown number of subjects having mild symptoms who may have never been diagnosed through entire life time. Classical EDS is characterized by pathogenic variants of genes encoding type V collagen. The biological effects and health risks of patients with EDS exposure to low doses of ionizing radiation is poorly understood...
October 17, 2018: European Journal of Medical Genetics
Elizabeth A Gay, Peter H Byers, Robin L Bennett, Thomas D Bird, Fuki M Hisama
PURPOSE: We analyzed the patients served by the University of Washington Adult Genetic Medicine Clinic (UWAGMC) over a 42-year period to determine how clinical services have changed and to evaluate the contributing factors. METHODS: We conducted a retrospective survey of patients seen by UWAGMC that included patients seen from 1975 to 2016. Variables considered included referral indication, disease status, and clinic visit date. Indications for referral were then binned into clinical categories for descriptive analysis...
October 16, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Navzer D Sachinvala, Angeline Stergiou, Duane E Haines
In this report, we discuss the case of an multiple sclerosis (MS) patient, age 62, who learned to attain and sustain euthymia despite his ailments. He has Ehlers Danlos Syndrome (EDS), asthma, MS, urticaria, and major depression (MD). Despite thriving limitations, the patient is an accomplished scientist, who struggled for > twelve years to emerge from being confined to bed and wheel chair with MS, to walking with crutches, scuba diving, writing manuscripts, and living a positive life. Through former educators, he reacquired problem-solving habits to study the literature on his illnesses; keep records; try new therapies; and use pharmaceutical, nutritional, physical, and psychological methods to attain euthymia...
2018: Neuropsychiatric Disease and Treatment
Tomotaka Ohshima, Shigeru Miyachi, Taiki Isaji, Naoki Matsuo, Reo Kawaguchi, Masakazu Takayasu
BACKGROUND: Ehlers-Danlos syndrome is a rare genetic connective tissue disorders, but the vascular type (Type IV) typically poses the greatest risk to patients. We report a case of multiple cranial artery dissection, which was successfully treated with carotid artery stenting. CASE DESCRIPTION: A 50-year-old woman presented with recurrent severe headaches caused by bilateral vertebral artery dissections that were treated conservatively at our hospital. However, she developed right cervical pain and dizziness at 3 days after admission, and a magnetic resonance angiogram revealed dissection of the right internal carotid artery...
October 10, 2018: World Neurosurgery
Andrea Artoni, Alessandra Bassotti, Maria Abbattista, Barbara Marinelli, Anna Lecchi, Francesca Gianniello, Marigrazia Clerici, Paolo Bucciarelli, Silvia La Marca, Flora Peyvandi, Ida Martinelli
BACKGROUND: Ehlers-Danlos Syndrome (EDS) includes a heterogeneous group of connective tissue disorders affecting skin, bones, vessels and other organs. Patients with EDS have an increased risk of bleeding, but a comprehensive study of hemostasis in EDS patients is lacking. OBJECTIVE: We investigated the bleeding tendency of a cohort of patients with EDS using the Bleeding Assessment Tool of the International Society of Thrombosis and Hemostasis, the bleeding severity score (BSS)...
October 12, 2018: Journal of Thrombosis and Haemostasis: JTH
Bharat Maraj, Emily Harding-Theobald, Fatima Karaki
This paper was inadvertently published with open access; the authors have requested the copyright revert to the society. It has been re-published with appropriate licensing.
October 10, 2018: Journal of General Internal Medicine
Marco Zaffanello, Franco Antoniazzi, Laura Tenero, Luana Nosetti, Michele Piazza, Giorgio Piacentini
Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age...
September 2018: Annals of Translational Medicine
Raghav Murthy, Nicole L Herrick, Howaida El-Said, Paul Grossfeld, John Moore, John J Lamberti
Ehlers-Danlos syndrome vascular type IV is characterized by translucent skin, easy bruising, and fragility of arteries. A full-term female infant presented at four weeks of age with a diagnosis of d-transposition of the great arteries with restrictive atrial septal defect. She successfully underwent emergent balloon atrial septostomy and placement of patent ductus arteriosus (PDA) stent. She required restenting of the PDA and pulmonary artery banding prior to arterial switch procedure. At 16 months of age, the patient successfully underwent arterial switch procedure without complication...
October 8, 2018: World Journal for Pediatric & Congenital Heart Surgery
Courtenay M Holscher, Hanaa Dakour Aridi, Satinderjit S Locham, Caitlin W Hicks, Joseph K Canner, Mahmoud Malas, James H Black
OBJECTIVE: Despite improvements in prevention and management, aortic aneurysm repair remains a high risk operation for patients with Marfan syndrome (MFS) and Ehlers-Danlos syndrome (EDS). The goal of this study was to examine differences in characteristics and outcomes of patients with MFS or EDS undergoing aortic aneurysm repair at teaching versus non-teaching hospitals. METHODS: We used the National Inpatient Sample to study patients with MFS or EDS undergoing open or endovascular aortic aneurysm repair from 2000 to 2014...
October 1, 2018: Annals of Vascular Surgery
Francesca Cortini, Barbara Marinelli, Manuela Seia, Agostino Seresini, Alessandra Bassotti
Classic Ehlers-Danlos syndrome (cEDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, underlie this type of EDS. In this article we report a genetic and clinical analysis of an Italian family that carried missense mutation c.934 C>T (p.R312C) in the COL1A1 gene. Literature review showed an association between this missense mutation and vascular complications...
July 15, 2018: Dermatology Online Journal
Irini Chatziralli, George Saitakis, Eleni Dimitriou, Alexandros Chatzirallis, Sofia Stoungioti, George Theodossiadis, Panagiotis Theodossiadis
PURPOSE: To stratify the literature on angioid streaks, from pathophysiology to treatment. METHODS: Review of the current literature. RESULTS: Angioid streaks are crack-like dehiscences of Bruch membrane, which may coexist with systemic diseases, such as pseudoxanthoma elasticum, Paget disease, Ehlers-Danlos syndrome, hemoglobinopathies, or other diseases of the collagen. Various diagnostic methods, including infrared and red-free retinography, autofluorescence, optical coherence tomography, fluorescein angiography, and indocyanine green angiography, are useful to diagnose, evaluate, and monitor angioid streaks...
September 26, 2018: Retina
Daishi Fujita
No abstract text is available yet for this article.
2018: International Heart Journal
Preeti Prakash, Tanya N Eble, Shweta U Dhar
BACKGROUND: Genetic providers face the challenge of having adequate time to conduct a comprehensive evaluation. Hypermobile Ehlers-Danlos (hEDS) syndrome has a complex array of symptoms. An initial visit can involve approximately 60-80 min and an additional 45 min for the check-in and checkout process. We propose a model to improve clinic flow and patient satisfaction by using: (a) pre-appointment questionnaire (b) disease information sheet outlining basic management and (c) itinerary detailing the visit...
September 26, 2018: Molecular Genetics & Genomic Medicine
Alexander Rinner, Johannes Zschocke, Anna Schossig, Rebekka Gröbner, Heinrich Strobl, Ines Kapferer-Seebacher
OBJECTIVES: Periodontal Ehlers Danlos syndrome (pEDS) has recently been delineated as a molecularly defined cause of early severe periodontitis. Here we report that implant treatment failed in three affected individuals from one family. MATERIALS AND METHODS: Longitudinal data before and after implant treatment were examined for three individuals with genetically confirmed pEDS in the course of a large-scale pedigree analysis. RESULTS: Most detailed information was available for individual 1 in whom first periodontal bone loss was diagnosed at age 16 years...
September 25, 2018: Clinical Oral Implants Research
Sapna Sandal, Anupriya Kaur, Inusha Panigrahi
Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 ( CHST14 ) gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the CHST14 gene was discovered. Besides being the second report of this rare disorder from India, the child till 3 years has not had any bleeding tendency as described in the earlier reports of this disorder...
September 23, 2018: BMJ Case Reports
(no author information available yet)
No abstract text is available yet for this article.
September 21, 2018: Rheumatology
M Spycher, A Bauer, V Jagannathan, M Frizzi, M De Lucia, T Leeb
Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders caused by defective collagen synthesis or incorrect assembly of the collagen triple helical structure. EDS is characterised by joint hypermobility, skin hyperextensibility, abnormal scarring, poor wound healing and tissue friability. Human EDS may be caused by variants in several different genes including COL5A1, which encodes the collagen type V alpha 1 chain. For the present study we investigated a 1.5-year-old, spayed female, domestic shorthair cat with EDS...
September 23, 2018: Animal Genetics
Guillaume Goudot, Clément Papadacci, Blandine Dizier, Véronique Baudrie, Irmine Ferreira, Catherine Boisson-Vidal, Mickaël Tanter, Xavier Jeunemaître, Mathieu Pernot, Emmanuel Messas, Tristan Mirault
OBJECTIVE:  Vascular Ehlers-Danlos syndrome (vEDS) is associated with arterial ruptures due to a mutant gene encoding collagen type III (Col-III). To better understand the role of Col-III, we aimed at evaluating aortic stiffness and dynamic stiffening in vEDS mouse models, with either a quantitative (col3KO mice) or a qualitative Col-III defect (col3KI mice). MATERIALS AND METHODS:  Abdominal aortic wall pulse wave velocities (PWV) in col3KO and col3KI mice were compared to their respective wild type (WT) littermates using a 15 MHz ultrafast ultrasonic transducer...
September 21, 2018: Ultraschall in der Medizin
Rodney Grahame
No abstract text is available yet for this article.
September 18, 2018: Rheumatology
Kathryn Bailey, Geoff Debelle
No abstract text is available yet for this article.
September 18, 2018: Rheumatology
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