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https://www.readbyqxmd.com/read/29330883/genotype-phenotype-correlations-in-individuals-with-pathogenic-rere-variants
#1
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci, Melissa T Carter, John A Bernat, Amanda N Moccia, Anshika Srivastava, Donna M Martin, Stephanie L Bielas, John Pappas, Melissa D Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M Lewis, Fernando Scaglia, Jennefer N Kohler, Jonathan A Bernstein, Annika M Dries, Jill A Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H Sherr, Weimin Bi, Daryl A Scott
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies and sensorineural hearing loss when compared to loss-of-function variants that are likely to lead to haploinsufficiency...
January 13, 2018: Human Mutation
https://www.readbyqxmd.com/read/29315761/incidence-outcomes-and-resource-use-in-children-with-stevens-johnson-syndrome-and-toxic-epidermal-necrolysis
#2
James W Antoon, Jennifer L Goldman, Brian Lee, Alan Schwartz
BACKGROUND/OBJECTIVES: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening cutaneous reactions, typically to drugs or infection. The incidence and outcomes of these conditions in children are unknown. The objective of this study was to report the overall burden of Stevens-Johnson syndrome and toxic epidermal necrolysis in children in the United States. METHODS: We performed a retrospective cohort analysis of children and adolescents younger than 18 years of age using the 2009 and 2012 Kids' Inpatient Database...
January 9, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29311329/dysregulation-of-cotranscriptional-alternative-splicing-underlies-charge-syndrome
#3
Catherine Bélanger, Félix-Antoine Bérubé-Simard, Elizabeth Leduc, Guillaume Bernas, Philippe M Campeau, Seema R Lalani, Donna M Martin, Stephanie Bielas, Amanda Moccia, Anshika Srivastava, David W Silversides, Nicolas Pilon
CHARGE syndrome-which stands for coloboma of the eye, heart defects, atresia of choanae, retardation of growth/development, genital abnormalities, and ear anomalies-is a severe developmental disorder with wide phenotypic variability, caused mainly by mutations in CHD7 (chromodomain helicase DNA-binding protein 7), known to encode a chromatin remodeler. The genetic lesions responsible for CHD7 mutation-negative cases are unknown, at least in part because the pathogenic mechanisms underlying CHARGE syndrome remain poorly defined...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29300383/genetic-analysis-of-charge-syndrome-identifies-overlapping-molecular-biology
#4
Amanda Moccia, Anshika Srivastava, Jennifer M Skidmore, John A Bernat, Marsha Wheeler, Jessica X Chong, Deborah Nickerson, Michael Bamshad, Margaret A Hefner, Donna M Martin, Stephanie L Bielas
PurposeCHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5-30% (depending on the cohort) of individuals with a clinical diagnosis of CHARGE syndrome...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29284777/assessment-of-the-effect-of-wave-device-application-on-morphological-changes-in-organs-and-cells-of-irradiated-animals
#5
V Bebeshko, I Homolyako, V Grynchyshyn
AIM: To study the effect of the Device for wave influence on biological objects on the prevention of the development of acute radiation sickness and chronic radiation syndrome in vivo. MATERIALS AND METHODS: The studies were performed on white rats irradiated at a dose of 8 Gy. The experimental group of irradiated rats was treated with a wave Device (Patent of Ukraine No. 53568) once, for 2.5 min, 1.5 h after irradiation. Their organs were processed by standard histologic methods...
December 2017: Experimental Oncology
https://www.readbyqxmd.com/read/29284402/the-utility-of-personal-activity-trackers-fitbit-charge-2-on-exercise-capacity-in-patients-post-acute-coronary-syndrome-up-step-acs-trial-a-randomised-controlled-trial-protocol
#6
Jason Nogic, Paul Min Thein, James Cameron, Sam Mirzaee, Abdul Ihdayhid, Arthur Nasis
BACKGROUND: The benefits of physical activity and cardiovascular rehabilitation on the reduction of cardiovascular risk are well documented. Despite this, significant barriers and challenges remain in optimizing patient risk factors post acute coronary syndromes (ACS) and ensuring patient compliance. Consumer wearable personal activity trackers represent a cost effective and readily available technology that may aid in this endeavour. METHODS: UP-STEP ACS is a prospective single-blinded, two-arm, parallel, randomized control trial with an aim to enrol 200 patients all undertaking cardiac rehabilitation...
December 29, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29277338/hypothalamic-abnormalities-growth-failure-due-to-defects-of-the-ghrh-receptor
#7
Manuel H Aguiar-Oliveira, Caridad Davalos, Viviane C Campos, Luiz A Oliveira Neto, Cindi G Marinho, Carla R P Oliveira
Several acquired or congenital hypothalamic abnormalities may cause growth failure (GF). We described two of these congenital abnormalities. First, a case of CHARGE syndrome, an epigenetic disorder mostly caused by heterozygous mutations in the gene encoding CHD7, a chromatin remodeling protein, causing several malformations, some life-threatening, with additional secondary hypothalamus-hypophyseal dysfunction, including GF. Second, a cohort of individuals with genetic isolated severe GH deficiency (IGHD), due to a homozygous mutation in the GH-releasing hormone (GHRH) receptor gene described in Itabaianinha County, in northeast Brazil...
December 20, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29232059/cover-image-volume-175c-number-4-december-2017
#8
(no author information available yet)
The cover image, by Conny Van Ravenswaaij-Arts and Donna M. Martin, is based on the Introduction New Insights and Advances in CHARGE Syndrome: Diagnosis, Etiologies, Treatments, and Research Discoveries, DOI: 10.1002/ajmg.c.31592.
December 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29225887/a-prospective-longitudinal-study-of-men-with-borderline-personality-disorder-with-and-without-comorbid-antisocial-personality-disorder
#9
Marie-Pier Robitaille, Dave Checknita, Frank Vitaro, Richard E Tremblay, Joel Paris, Sheilagh Hodgins
Background: Some evidence suggests that the prevalence of Borderline Personality Disorder (BPD) is elevated among male criminal offenders. It is not presently known whether offending, and violent offending, are limited to those presenting comorbid Antisocial Personality Disorder (ASPD) who have a childhood history of conduct problems and whether offending is linked to psychopathic traits. Methods: A community sample of 311 males followed from age 6 to 33 years, one third of whom had a criminal charge between ages 18 and 24, completed diagnostic interviews and the Psychopathy Checklist-Revised interview...
2017: Borderline Personality Disorder and Emotion Dysregulation
https://www.readbyqxmd.com/read/29191495/atopic-disorders-in-charge-syndrome-a-retrospective-study-and-literature-review
#10
Fang Kong, Donna M Martin
BACKGROUND: Atopic disorders have been reported in CHARGE syndrome, but the prevalence and underlying mechanisms are not known. METHODS: We performed a retrospective study of atopic disorders in 23 individuals with CHARGE syndrome, and reviewed other published reports of atopic disorders in CHARGE syndrome. We assayed for enrichment of atopic disorders in CHARGE syndrome based on gender and presence of a CHD7 pathogenic variant. RESULTS: In our cohort, 65% (15/23) of individuals with CHARGE syndrome were found to have a pathogenic CHD7 variant...
November 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29179815/charge-syndrome-modeling-using-patient-ipscs-reveals-defective-migration-of-neural-crest-cells-harboring-chd7-mutations
#11
Hironobu Okuno, Francois Renault Mihara, Shigeki Ohta, Kimiko Fukuda, Kenji Kurosawa, Wado Akamatsu, Tsukasa Sanosaka, Jun Kohyama, Kanehiro Hayashi, Kazunori Nakajima, Takao Takahashi, Joanna Wysocka, Kenjiro Kosaki, Hideyuki Okano
CHARGE syndrome is caused by heterozygous mutations in the chromatin remodeler, CHD7, and is characterized by a set of malformations that, on clinical grounds, were historically postulated to arise from defects in neural crest formation during embryogenesis. To better delineate neural crest defects in CHARGE syndrome, we generated induced pluripotent stem cells (iPSCs) from two patients with typical syndrome manifestations, and characterized neural crest cells differentiated in vitro from these iPSCs (iPSC-NCCs)...
November 28, 2017: ELife
https://www.readbyqxmd.com/read/29178641/pediatric-healthcare-costs-for-patients-with-22q11-2-deletion-syndrome
#12
Peter Benn, Sushma Iyengar, Terrence Blaine Crowley, Elaine H Zackai, Evanette K Burrows, Solomon Moshkevich, Donna M McDonald-McGinn, Kathleen E Sullivan, Zachary Demko
BACKGROUND: The 22q11.2 deletion syndrome is a variably expressed disorder that can include cardiac, palate, and other physical abnormalities, immunodeficiency, and hypocalcemia. Because of the extreme variability in phenotype, there has been no available estimate of the total medical expenditure associated with the average case. METHODS: We have developed a model to estimate the cost from the time of diagnosis to age 20. Costs were based on patients seen at a specialty center but also considered those components of care expected to have been provided by external healthcare facilities...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29178447/phenotype-and-genotype-analysis-of-a-french-cohort-of-119-patients-with-charge-syndrome
#13
Marine Legendre, Véronique Abadie, Tania Attié-Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin-Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre-Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent-Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu-Dramard, Marie-Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quélin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne-Marie Guerrot, Massimiliano Rossi, Alice Masurel-Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez-Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert-Dussardier
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. The detection rate of a pathogenic variant in the CHD7 gene varies from 67% to 90%...
November 27, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29171162/new-insights-and-advances-in-charge-syndrome-diagnosis-etiologies-treatments-and-research-discoveries
#14
Conny van Ravenswaaij-Arts, Donna M Martin
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. In this special issue of the American Journal of Medical Genetics part C, authors of eleven manuscripts describe specific organ system features of CHARGE syndrome, with a focus on recent developments in diagnosis, etiologies, and treatments. Since 2004, when CHD7 was identified as the major causative gene in CHARGE, several animal models (mice, zebrafish, flies, and frog) and cell-based systems have been developed to explore the underlying pathophysiology of this condition...
November 24, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29168327/distinct-cerebellar-foliation-anomalies-in-a-chd7-haploinsufficient-mouse-model-of-charge-syndrome
#15
Danielle E Whittaker, Sahrunizam Kasah, Alex P A Donovan, Jacob Ellegood, Kimberley L H Riegman, Holger A Volk, Imelda McGonnell, Jason P Lerch, M Albert Basson
Mutations in the gene encoding the ATP dependent chromatin-remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital-urinary anomalies, and Ear defects) syndrome. Neurodevelopmental defects and a range of neurological signs have been identified in individuals with CHARGE syndrome, including developmental delay, lack of coordination, intellectual disability, and autistic traits. We previously identified cerebellar vermis hypoplasia and abnormal cerebellar foliation in individuals with CHARGE syndrome...
November 23, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29168326/guidelines-in-charge-syndrome-and-the-missing-link-cranial-imaging
#16
REVIEW
Christa M de Geus, Rolien H Free, Berit M Verbist, Deborah A Sival, Kim D Blake, Linda C Meiners, Conny M A van Ravenswaaij-Arts
"CHARGE syndrome" is a complex syndrome with high and extremely variable comorbidity. As a result, clinicians may struggle to provide accurate and comprehensive care, and this has led to the publication of several clinical surveillance guidelines and recommendations for CHARGE syndrome, based on both single case observations and cohort studies. Here we perform a structured literature review to examine all the existing advice. Our findings provide additional support for the validity of the recently published Trider checklist...
November 23, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29166787/analysis-of-expected-costs-of-carpal-tunnel-syndrome-treatment-strategies
#17
Michael T Milone, Adnan Karim, Christopher S Klifto, John T Capo
BACKGROUND: Over 500 000 carpal tunnel releases costing over $2 billion are performed each year in the United States. The study's purpose is to perform a cost-minimizing analysis to identify the least costly strategy for carpal tunnel syndrome treatment utilizing existing success rates based on previously reported literature. METHODS: We evaluate the expected cost of various treatment strategies based on the likelihood of further treatments: (1) a single steroid injection followed by surgical release; (2) up to 2 steroid injections before surgical release; (3) 3 steroid injections before surgery, and (4) immediate surgical release...
November 1, 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/29159871/immunodeficiency-in-charge-syndrome
#18
REVIEW
Sam Mehr, Peter Hsu, Dianne Campbell
Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T-cell counts, combined T-B cell defects rarely requiring antibiotic prophylaxis or immunoglobulin replacement, and severe combined immunodeficiency, which is fatal without immune reconstitution. However, the prevalence of immunodeficiency in CHARGE syndrome remains unclear with few prospective studies. In this review, we examine the existing literature covering immunodeficiency associated with CHARGE syndrome, compare these with immunodeficiencies reported in 22q11...
November 21, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29157514/a-psycho-legal-perspective-on-sexual-offending-in-individuals-with-autism-spectrum-disorder
#19
REVIEW
A Creaby-Attwood, C S Allely
It is important to consider whether there are innate vulnerabilities that increase the risk of an individual with an autistic spectrum disorder (ASD), predominantly those defendants with a diagnosis of Asperger's Syndrome, being charged and convicted of a sexual offence. The significance of such can be readily seen in recent English case law, with judgments on appeal finding convictions unsafe where there have been a number of failings in the Judge's summing up. In this article, we will consider the gravity of Judges omitting to highlight a defendant's diagnosis of autism spectrum disorder and the necessity of detailed explanations to jury members regarding the condition and its effect upon thoughts and behaviour...
November 2017: International Journal of Law and Psychiatry
https://www.readbyqxmd.com/read/29152903/reproductive-endocrine-phenotypes-relating-to-chd7-mutations-in-humans
#20
REVIEW
Ravikumar Balasubramanian, William F Crowley
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi-organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60-80% of cases) and represent the letter "G" in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin-releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels)...
November 20, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
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