American Journal of Medical Genetics Part C: Seminars in Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Table of Contents, Volume 175C, Number 1, March 2017
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 16, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐TOC Source Type: research

Cover Image, Volume 175C, Number 1, March 2017
The cover image, by Brad Tinkle et al., is based on the Research Article Hypermobile Ehlers‐Danlos syndrome (a.k.a. Ehlers‐Danlos syndrome Type III and Ehlers‐Danlos syndrome hypermobility type): Clinical description and natural history, DOI: 10.1002/ajmg.c.31538. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 16, 2017 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Challenges in educating patients and parents about differences in sex development
This article reviews practical approaches to talking with parents and youth about Differences in Sex Development (DSD) which are conditions that affect chromosomal, gonadal, or anatomic sexual development, one of the most personal, and in our society, private areas of life. Talking with parents and patients about these conditions can be challenging given the complexity of sexual development and the sensitive nature of the information being shared. Changing approaches to disclosing or communicating information about conditions, such as DSD are reviewed as well as factors leading to revision in the diagnostic nomenclature. B...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2017 Category: Genetics & Stem Cells Authors: Elizabeth McCauley Tags: COMMENTARY Source Type: research

Emerging issues in disorders/differences of sex development (DSD)
Disorders/Differences of Sex Development (DSD), as defined by the 2006 Consensus Statement, are “congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical.” They represent a spectrum of chronic medical conditions collectively affecting about 1% of the population and are associated with increased risk of infertility, cancer, and psychosocial distress. Clinical management in DSD is subject to multiple controversies about gender assignment, the timing and appropriateness of genital surgery and the approach to disclosure. There is dissent within and between stakeholders (healthcare pro...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2017 Category: Genetics & Stem Cells Authors: Margaret P. Adam, Eric Vilain Tags: Introduction Source Type: research

Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD —Translational research network
The objective of this paper is threefold: to describe the psychosocial screening protocol adopted by the clinical centers of the DSD‐Translational Research Network; to summarize psychosocial data collected at 1 of the 10 network sites; and to suggest how systematic behavioral health screenings can be employed to tailor care in DSD that results in better health and quality of life outcomes. Steps taken in developing the largely “noncategorical” screening protocol are described. These preliminary findings suggest that DSD, as one category of pediatric chronic conditions, is not associated with marked disturbances of ps...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2017 Category: Genetics & Stem Cells Authors: David E. Sandberg, Melissa Gardner, Nina Callens, Tom Mazur, Tags: RESEARCH ARTICLE Source Type: research

Disorders of sex development (DSD): Clinical service delivery in the United States
Following the principles of care recommended in the 2006 Consensus Statement on Disorders of Sex Development (DSD), along with input from representatives of peer support and advocacy groups, this study surveyed DSD clinical management practices at healthcare facilities in the United States. DSD are congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical. Facilities providing care for patients with DSD were targeted for participation. Specialty providers completed a survey with questions in six broad categories: Institution Information, Nomenclature and Care Guidelines, Interdisciplin...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2017 Category: Genetics & Stem Cells Authors: Aimee M. Rolston, Melissa Gardner, Kathleen van Leeuwen, Lauren Mohnach, Catherine Keegan, Emmanu èle Délot, Eric Vilain, David E. Sandberg, , Tags: RESEARCH ARTICLE Source Type: research

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development
Differences of Sex Development (DSD) includes a wide spectrum of etiologies and phenotypes. A subset of individuals with DSDs are predisposed to gonadal germ cell tumor (GCT). In this setting, GCT risk varies widely, depending on the DSD molecular etiology and penetrance. Prognostication based on molecular diagnosis remains challenging, as natural history data specific to recently identified molecular causes of DSD is lacking. In this review, we provide a framework for the clinical geneticist to consider GCT tumor risk in the patient with DSD. We discuss germ cell development and etiology of GCT growth, along with paramete...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2017 Category: Genetics & Stem Cells Authors: Louise C. Pyle, Katherine L. Nathanson Tags: RESEARCH REVIEW Source Type: research

MAP3K1 ‐related gonadal dysgenesis: Six new cases and review of the literature
Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex‐determining genes. MAP3K1 encodes a signal transduction regulator in the sex determination pathway and is emerging as one of the more common genes responsible for 46,XY DSD presenting as complete or partial gonadal dysgenesis. Clinical assessment, endocrine evaluation, and genetic analysis were performed in six individuals from four unrelated families with 46,XY DSD. All six individuals were found to have likely pathogenic MAP3K1 variants. Three of these individuals presented with complete gonadal dysgenesis, characterized b...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - March 1, 2017 Category: Genetics & Stem Cells Authors: Andrea Granados, Veronica I. Alaniz, Lauren Mohnach, Hayk Barseghyan, Eric Vilain, Harry Ostrer, Elisabeth H. Quint, Ming Chen, Catherine E. Keegan Tags: RESEARCH ARTICLE Source Type: research

Orthopaedic management of the Ehlers –Danlos syndromes
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. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 12, 2017 Category: Genetics & Stem Cells Authors: William B. Ericson, Roger Wolman Tags: Research Article Source Type: research

Oral and mandibular manifestations in the Ehlers –Danlos syndromes
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. Further, the impact o...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 12, 2017 Category: Genetics & Stem Cells Authors: John Mitakides, Brad T. Tinkle Tags: Research Article Source Type: research

Chronic fatigue in Ehlers –Danlos syndrome—hypermobile type
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. Other problems that commonly contribute to fatigue in EDS include sleep disorders,...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 9, 2017 Category: Genetics & Stem Cells Authors: Alan Hakim, Inge De Wandele, Chris O'Callaghan, Alan Pocinki, Peter Rowe Tags: Research Article Source Type: research

Pain management in the Ehlers –Danlos syndromes
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,...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 9, 2017 Category: Genetics & Stem Cells Authors: Pradeep Chopra, Brad Tinkle, Claude Hamonet, Isabelle Brock, Anne Gompel, Antonio Bulbena, Clair Francomano Tags: Research Review Source Type: research

Psychiatric and psychological aspects in the Ehlers –Danlos syndromes
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 p...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - February 9, 2017 Category: Genetics & Stem Cells Authors: Antonio Bulbena, Carolina Baeza ‐Velasco, Andrea Bulbena‐Cabré, Guillem Pailhez, Hugo Critchley, Pradeep Chopra, Nuria Mallorquí‐Bagué, Charissa Frank, Stephen Porges Tags: Research Article Source Type: research

A framework for the classification of joint hypermobility and related conditions
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 numbe...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - January 31, 2017 Category: Genetics & Stem Cells Authors: Marco Castori, Brad Tinkle, Howard Levy, Rodney Grahame, Fransiska Malfait, Alan Hakim Tags: Research Article Source Type: research

Publication schedule for 2016
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 11, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐Publication Schedule Source Type: research