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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics

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https://www.readbyqxmd.com/read/28220607/neurological-and-spinal-manifestations-of-the-ehlers-danlos-syndromes
#1
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/28192633/ehlers-danlos-syndrome-classical-type
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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/28160388/cardiovascular-autonomic-dysfunction-in-ehlers-danlos-syndrome-hypermobile-type
#9
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
#10
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
#11
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/27943636/table-of-contents-volume-172c-number-4-december-2016
#12
(no author information available yet)
No abstract text is available yet for this article.
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27943635/cover-image-volume-172c-number-4-december-2016
#13
(no author information available yet)
The cover, by Vijay G. Sankaran et al., is based on Research Review the Emerging cellular and gene therapies for congenital anemias, DOI: 10.1002/ajmg.c.31529.
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27943634/publication-schedule-for-2016
#14
(no author information available yet)
No abstract text is available yet for this article.
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27862925/gene-and-cell-based-therapies-for-inherited-retinal-disorders-an-update
#15
Jesse D Sengillo, Sally Justus, Yi-Ting Tsai, Thiago Cabral, Stephen H Tsang
Retinal degenerations present a unique challenge as disease progression is irreversible and the retina has little regenerative potential. No current treatments for inherited retinal disease have the ability to reverse blindness, and current dietary supplement recommendations only delay disease progression with varied results. However, the retina is anatomically accessible and capable of being monitored at high resolution in vivo. This, in addition to the immune-privileged status of the eye, has put ocular disease at the forefront of advances in gene- and cell-based therapies...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27862920/alternative-designs-for-clinical-trials-in-rare-diseases
#16
Lusine Abrahamyan, Brian M Feldman, George Tomlinson, Marie E Faughnan, Sindhu R Johnson, Ivan R Diamond, Samir Gupta
Evidence-based medicine requires strong scientific evidence upon which to base treatment. In rare diseases, study populations are often small, and thus this evidence is difficult to accrue. Investigators, though, should be creative and develop a flexible toolkit of methods to deal with the problems inherent in the study of rare disease. This narrative review presents alternative clinical trial designs for studying treatments of rare diseases, including cross-over and n-of-1 trials, randomized placebo-phase design, enriched enrollment, randomized withdrawal design, and classes of adaptive designs...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27860216/somatic-overgrowth-disorders-of-the-pi3k-akt-mtor-pathway-therapeutic-strategies
#17
REVIEW
Kim M Keppler-Noreuil, Victoria E R Parker, Thomas N Darling, Julian A Martinez-Agosto
The phosphatidylinositol-3-kinase (PI3K)/AKT/mTOR signaling pathway plays an essential role in regulation of normal cell growth, metabolism, and survival. Somatic activating mutations in the PI3K/AKT/mTOR pathway are among the most common mutations identified in cancer, and have been shown to cause a spectrum of overgrowth syndromes including PIK3CA-Related Overgrowth Spectrum, Proteus syndrome, and brain overgrowth conditions. Clinical findings in these disorders may be isolated or multiple, including sporadic or mosaic overgrowth (adipose, skeletal, muscle, brain, vascular, or lymphatic), and skin abnormalities (including epidermal nevi, hyper-, and hypopigmented lesions), and have the potential risk of tumorigenesis...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27860204/angelman-syndrome-current-and-emerging-therapies-in-2016
#18
REVIEW
Wen-Hann Tan, Lynne M Bird
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally-inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism involving an antisense transcript (UBE3A-AS) at the unmethylated paternal locus. We reviewed all published information on the clinical trials that have been completed as well as the publicly available information on ongoing trials of therapies in AS. To date, all clinical trials that strove to improve neurodevelopment in AS have been unsuccessful...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27813341/pharmacological-and-biological-therapeutic-strategies-for-osteogenesis-imperfecta
#19
REVIEW
Ronit Marom, Yi-Chien Lee, Ingo Grafe, Brendan Lee
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility, low bone mass, and bone deformities. The majority of cases are caused by autosomal dominant pathogenic variants in the COL1A1 and COL1A2 genes that encode type I collagen, the major component of the bone matrix. The remaining cases are caused by autosomal recessively or dominantly inherited mutations in genes that are involved in the post-translational modification of type I collagen, act as type I collagen chaperones, or are members of the signaling pathways that regulate bone homeostasis...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27813320/treatment-of-genetic-disorders-a-vision-coming-into-focus
#20
Lynne M Bird, Wen-Hann Tan
This issue of the Seminar Series is devoted to reviewing the state-of-the-art for treatment of non-metabolic genetic disorders. We begin with a primer on the design of studies in rare diseases. We then review a broad spectrum of disorders to reflect many different genetic mechanisms, including disorders stemming from a chromosomal basis as well as those due to single gene aberrations; those demonstrating principles of imprinting and mosaicism; and single organ as well as multisystem disorders. In doing so, a wide variety of treatment approaches are explained in this issue, including cell therapy, chromosome therapy, gene therapy, strategies for gene regulation with exon skipping and anti-sense oligonucleotides, stem cell modification and reintroduction, and use of genetic editing tools...
December 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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