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https://www.readbyqxmd.com/read/28228175/carotid-cavernous-fistula-in-a-patient-with-type-iv-ehlers-danlos-syndrome
#1
Josée Masson-Roy, Martin Savard, Ariane Mackey
No abstract text is available yet for this article.
February 23, 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#2
Fraser C Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L Singman, Nicol C Voermans
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin extensibility, and tissue fragility. This communication briefly reports upon the neurological manifestations that arise including the weakness of the ligaments of the craniocervical junction and spine, early disc degeneration, and the weakness of the epineurium and perineurium surrounding peripheral nerves. Entrapment, deformation, and biophysical deformative stresses exerted upon the nervous system may alter gene expression, neuronal function and phenotypic expression...
February 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28211643/postural-analysis-in-a-pediatric-cohort-of-patients-with-ehlers-danlos-syndrome-a-pilot-study
#3
Claudio Lisi, Serena Monteleone, Carmine Tinelli, Berardo Rinaldi, Giuseppe Di Natali, Salvatore Savasta
BACKGROUND: The Ehlers-Danlos Syndrome (EDS) is a rare disorder affecting the connective tissue. EDS patients may suffer of proprioception and balance impairment but all the studies dealing with such symptoms have been addressed to adult subjects. The Study of such impairment in younger patients may lead to a better awareness of own motor abilities and to a focused rehabilitative intervention. Therefore, our work aims to assess the occurrence of these alterations in a pediatric cohort of EDS patients...
February 17, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28192633/ehlers-danlos-syndrome-classical-type
#4
Jessica M Bowen, Glenda J Sobey, Nigel P Burrows, Marina Colombi, Mark E Lavallee, Fransiska Malfait, Clair A Francomano
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31-37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28192626/oral-and-mandibular-manifestations-in-the-ehlers-danlos-syndromes
#5
John Mitakides, Brad T Tinkle
The Ehlers-Danlos syndromes (EDS) are hereditary disorders that affect the connective tissue and collagen structures in the body. Several types of EDS have been identified. Oral and mandibular structures, which include oral soft tissue, dentition, facial and head pain, and the functioning of the temporomandibular joint (TMJ), are variably affected in the various types of EDS. These various manifestations of EDS have been noted for many years, but newer diagnostic techniques and studies are shedding additional light on the challenges faced by EDS patients in the area of oral and mandibular disorders...
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28192621/orthopaedic-management-of-the-ehlers-danlos-syndromes
#6
William B Ericson, Roger Wolman
The role of orthopedic surgery in Ehlers-Danlos syndrome is inherently controversial, opaque to most patients and many medical providers, and difficult to discern from available medical literature. Non-operative treatment is preferable, but for carefully selected patients, specific joint stabilization and nerve decompression procedures can provide symptomatic relief when conservative measures fail. © 2017 Wiley Periodicals, Inc.
February 13, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28186393/chronic-fatigue-in-ehlers-danlos-syndrome-hypermobile-type
#7
Alan Hakim, Inge De Wandele, Chris O'Callaghan, Alan Pocinki, Peter Rowe
Chronic fatigue is an important contributor to impaired health-related quality of life in Ehlers-Danlos syndrome. There is overlap in the symptoms and findings of EDS and chronic fatigue syndrome. A proportion of those with CFS likely have EDS that has not been identified. The evaluation of chronic fatigue in EDS needs to include a careful clinical examination and laboratory testing to exclude common causes of fatigue including anemia, hypothyroidisim, and chronic infection, as well as dysfunction of major physiological or organ systems...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28186390/pain-management-in-the-ehlers-danlos-syndromes
#8
Pradeep Chopra, Brad Tinkle, Claude Hamonet, Isabelle Brock, Anne Gompel, Antonio Bulbena, Clair Francomano
Chronic pain in the Ehlers-Danlos syndromes (EDS) is common and may be severe. According to one study, nearly 90% of patients report some form of chronic pain. Pain, which is often one of the first symptoms to occur, may be widespread or localized to one region such as an arm or a leg. Studies on treatment modalities are few and insufficient to guide management. The following is a discussion of the evidence regarding the underlying mechanisms of pain in EDS. The causes of pain in this condition are multifactorial and include joint subluxations and dislocations, previous surgery, muscle weakness, proprioceptive disorders, and vertebral instability...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28186381/psychiatric-and-psychological-aspects-in-the-ehlers-danlos-syndromes
#9
Antonio Bulbena, Carolina Baeza-Velasco, Andrea Bulbena-Cabré, Guillem Pailhez, Hugo Critchley, Pradeep Chopra, Nuria Mallorquí-Bagué, Charissa Frank, Stephen Porges
There is increasing amount of evidence pointing toward a high prevalence of psychiatric conditions among individuals with hypermobile type of Ehlers-Danlos syndrome (JHS/hEDS). A literature review confirms a strong association between anxiety disorders and JHSh/hEDS, and there is also limited but growing evidence that JHSh/hEDS is also associated with depression, eating, and neuro-developmental disorders as well as alcohol and tobacco misuse. The underlying mechanisms behind this association include genetic risks, autonomic nervous system dysfunction, increased exteroceptive and interoceptive mechanisms and decreased proprioception...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28186368/gastrointestinal-involvement-in-the-ehlers-danlos-syndromes
#10
Asma Fikree, Gisela Chelimsky, Heidi Collins, Katcha Kovacic, Qasim Aziz
Current evidence suggests that an association exists between non-inflammatory hereditary disorders of connective tissue such as the Ehlers-Danlos syndromes (EDS) and gastrointestinal (GI) symptoms. Patients with EDS can present with both structural problems such as hiatus hernias, visceroptosis, rectoceles, and rectal prolapse as well as functional problems such as disordered gut motility. It has recently been demonstrated that patients with hypermobile EDS (hEDS) present with GI symptoms related to the fore and hind-gut and these patients frequently meet the criteria for functional gastrointestinal disorders such as functional dyspepsia and irritable bowel syndrome...
February 10, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28183226/a-new-col3a1-mutation-in-ehlers-danlos-syndrome-vascular-type-with-different-phenotypes-in-the-same-family
#11
Francesca Cortini, Barbara Marinelli, Silvia Romi, Agostino Seresini, Angela Cecilia Pesatori, Manuela Seia, Nicola Montano, Alessandra Bassotti
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28175054/p315-gastrointestinal-immune-related-adverse-events-associated-with-programmed-death-1-blockade
#12
M Collins, J-M Michot, F-X Danlos, S Champiat, C Mussini, E Soularue, C Mateus, D Loirat, A Buisson, I Rosa, O Lambotte, S Laghouati, A-L Voisin, J-C Soria, A Marabelle, C Robert, F Carbonnel
No abstract text is available yet for this article.
February 1, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28167178/chronic-pain-in-a-patient-with-ehlers-danlos-syndrome-hypermobility-type-the-role-of-myofascial-trigger-point-injections
#13
Saipriya Tewari, Rajashree Madabushi, Anil Agarwal, Sujeet K Gautam, Sandeep Khuba
Chronic widespread musculoskeletal pain is a cardinal symptom in hypermobility type of Ehler Danlos Syndrome (EDS type III). The management of pain in EDS, however, has not been studied in depth. A 30 year old female, known case of EDS, presented to the pain clinic with complaints of severe upper back pain for 6 months. Physical examination of the back revealed two myofascial trigger points over the left rhomboids and the left erector spinae. Local anaesthetic trigger point injections were given at these points, followed by stretching exercises under analgesic cover for the first week...
January 2017: Journal of Bodywork and Movement Therapies
https://www.readbyqxmd.com/read/28160388/cardiovascular-autonomic-dysfunction-in-ehlers-danlos-syndrome-hypermobile-type
#14
Alan Hakim, Chris O'Callaghan, Inge De Wandele, Lauren Stiles, Alan Pocinki, Peter Rowe
Autonomic dysfunction contributes to health-related impairment of quality of life in the hypermobile type of Ehlers-Danlos syndrome (hEDS). Typical signs and symptoms include tachycardia, hypotension, gastrointestinal dysmotility, and disturbed bladder function and sweating regulation. Cardiovascular autonomic dysfunction may present as Orthostatic Intolerance, Orthostatic Hypotension, Postural Orthostatic Tachycardia Syndrome, or Neurally Mediated Hypotension. The incidence, prevalence, and natural history of these conditions remain unquantified, but observations from specialist clinics suggest they are frequently seen in hEDS...
February 4, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28145611/hypermobile-ehlers-danlos-syndrome-a-k-a-ehlers-danlos-syndrome-type-iii-and-ehlers-danlos-syndrome-hypermobility-type-clinical-description-and-natural-history
#15
Brad Tinkle, Marco Castori, Britta Berglund, Helen Cohen, Rodney Grahame, Hanadi Kazkaz, Howard Levy
The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation...
February 1, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28145606/a-framework-for-the-classification-of-joint-hypermobility-and-related-conditions
#16
Marco Castori, Brad Tinkle, Howard Levy, Rodney Grahame, Fransiska Malfait, Alan Hakim
In the last decade, growing attention has been placed on joint hypermobility and related disorders. The new nosology for Ehlers-Danlos syndrome (EDS), the best-known and probably the most common of the disorders featuring joint hypermobility, identifies more than 20 different types of EDS, and highlights the need for a single set of criteria to substitute the previous ones for the overlapping EDS hypermobility type and joint hypermobility syndrome. Joint hypermobility is a feature commonly encountered in many other disorders, both genetic and acquired, and this finding is attracting the attention of an increasing number of medical and non-medical disciplines...
February 1, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28139901/clinical-and-genetic-characterization-of-adult-patients-presenting-with-non-syndromic-vascular-aneurysms-and-dissections
#17
Ryan S D'Souza, Dobromir Slavov, Sharon Graw, Jean Jirikowic, Emily Todd, Robert K Rogers, Matthew R Taylor
BACKGROUND: Genetic disorders affecting the arterial tree in the form of aneurysms and dissections are highly morbid conditions that strike younger persons leading to bleeding, infarction, or even death. Although clinically recognizable syndromes, notably Marfan, Ehlers Danlos, and Loeys--Dietz syndromes encompass the principal diagnosable phenotypes along the genetic vascular disorder spectrum, a substantial subset of patients cannot be adequately classified under a known diagnosis through clinical or molecular diagnostic methods...
January 31, 2017: International Angiology: a Journal of the International Union of Angiology
https://www.readbyqxmd.com/read/28127132/understanding-vascular-type-ehlers-danlos-syndrome-and-avoiding-vascular-complications
#18
Jocelyn Carter, Andrew Z Fenves
Vascular-type Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disorder caused by a mutation in type III procollagen. It has the highest mortality rate among the six types of EDS. Patients with this syndrome often have typical medical histories and a characteristic physical examination. We present two patients with this rare disorder and highlight the diagnostic and treatment challenges.
January 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28119937/congenital-chylous-ascites-and-ehlers-danlos-syndrome-type-vi
#19
Anna K Ermarth, John Pohl, Brittany Esty, Jessica K Sempler, John C Carey, Molly A O'Gorman
We report the first observation of a patient with contgenital chylous ascites (CCA) and Ehlers-Danlos syndrome type VI due to primary lymphatic defect with additional vascular anomaly. CCA is a rare condition, and there is limited understanding of its pathophysiology and treatment options. We also review the patient's treatment course mitigated with octreotide and total parenteral nutritional support, as there are no current established guidelines for CCA. Early recognition of possible association with Ehlers-Danlos syndrome is important for quick intervention and successful management of pediatric patients...
August 2016: ACG Case Reports Journal
https://www.readbyqxmd.com/read/28115524/p3h3-null-and-sc65-null-mice-phenocopy-the-collagen-lysine-under-hydroxylation-and-cross-linking-abnormality-of-ehlers-danlos-syndrome-type-via
#20
David M Hudson, MaryAnn Weis, Jyoti Rai, Kyu Sang Joeng, Milena Dimori, Brendan H Lee, Roy Morello, David R Eyre
Tandem mass spectrometry was applied to tissues from targeted mutant mouse models to explore the collagen substrate specificities of individual members of the prolyl 3-hydroxylase (P3H) gene family. Previous studies revealed that P3h1 preferentially 3-hydroxylates proline at a single site in collagen type I chains, whereas P3h2 is responsible for 3-hydroxylating multiple proline sites in collagen types I, II, IV and V. In screening for collagen substrate sites for the remaining members of the vertebrate P3H family, P3h3 and Sc65 knockout mice revealed a common lysine under-hydroxylation effect at helical-domain cross-linking sites in skin, bone, tendon, aorta and cornea...
January 23, 2017: Journal of Biological Chemistry
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