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https://www.readbyqxmd.com/read/29226631/novel-compound-heterozygous-mutations-in-gpt2-linked-to-microcephaly-and-intellectual-developmental-disability-with-or-without-spastic-paraplegia
#1
Hande Kaymakcalan, Yanki Yarman, Nukte Goc, Fatih Toy, Cihan Meral, A Gulhan Ercan-Sencicek, Murat Gunel
We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly intellectual disability and developmental delay (IDD). In addition to these clinical phenotypes, the male sibling has spastic paraplegia, and the female sibling has epilepsy. Their four extended family members have IDD and microcephaly. Both of these variants, c...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29211263/metabolic-screening-and-metabolomics-analysis-in-the-intellectual-developmental-disorders-mexico-study
#2
Isabel Ibarra-González, Rocío Rodríguez-Valentín, Eduardo Lazcano-Ponce, Marcela Vela-Amieva
OBJECTIVE: Inborn errors of metabolism (IEM) are genetic conditions that are sometimes associated with intellectual developmental disorders (IDD). The aim of this study is to contribute to the metabolic characterization of IDD of unknown etiology in Mexico. MATERIALS AND METHODS: Metabolic screening using tandem mass spectrometry and fluorometry will be performed to rule out IEM. In addition, target metabolomic analysis will be done to characterize the metabolomic profile of patients with IDD...
July 2017: Salud Pública de México
https://www.readbyqxmd.com/read/29211261/-hospital-admissions-and-morbidity-in-people-with-intellectual-developmental-disorders
#3
Rubén José Bernal-Celestino, David León-Hurtado, Rafael Martínez-Leal
OBJECTIVE: People with intellectual developmental disorders (IDD) have worse health statuses in comparison with general population. The objective of this paper is to compare access and hospital morbimortality in people with IDD and general population. MATERIAL AND METHODS: We conducted a retrospective cross-sectional analytical study and analyzed data on admissions and discharges between IDD patients and the rest of them, in Ciudad Real, España. RESULTS: Out of 51 325 hospital admissions, 441 (0...
July 2017: Salud Pública de México
https://www.readbyqxmd.com/read/29211260/health-profiles-in-people-with-intellectual-developmental-disorders
#4
Anabel Folch-Mas, María José Cortés-Ruiz, Paloma Vicens Calderón, Rafael Martínez-Leal
OBJECTIVE: To better understand the health profiles of people with intellectual disability (ID), focusing on the variables that are associated with a poorer health status. MATERIALS AND METHODS: Data were collected from the Survey on Disability, Personal Autonomy and Dependency (EDAD 2008) of the Spanish National Statistics Institute (INE). The health data of 2840 subjects with IDD were analyzed in order to verify the impact of different variables on their health profiles...
July 2017: Salud Pública de México
https://www.readbyqxmd.com/read/29206310/ease-of-fill-port-access-during-the-ultrasound-guided-vs-the-blind-refill-technique-of-intrathecal-drug-delivery-systems-with-a-raised-septum-a-prospective-comparison-study
#5
Paolo Maino, Sander M J van Kuijk, Roberto S G M Perez, Eva Koetsier
OBJECTIVES: The localization of the reservoir fill port of Intrathecal Drug Delivery Devices (IDDS) can be difficult. The purpose of this study was to assess the ease of fill port access during the ultrasound-guided refill technique compared to the blind refill technique in IDDSs with a raised septum on the pump surface. MATERIALS AND METHODS: Written informed consent was obtained from 19 adult patients undergoing regular refills of their Raised Septum IDDSs (RS-IDDSs)...
December 5, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/29194025/self-advocacy-services-for-people-with-intellectual-and-developmental-disabilities-a-national-analysis
#6
Carli Friedman
Self-advocacy plays an important role in facilitating the empowerment of people with intellectual and developmental disabilities (IDD), and helps people with IDD develop the skills necessary for the participant direction of services. The purpose of this study was to examine Medicaid Home and Community Based Services (HCBS) 1915(c) waivers across the nation to determine how states were utilizing self-advocacy services for people with IDD. Findings revealed approximately half of waivers provided self-advocacy services; however, less than ...
December 2017: Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29188589/psychometric-properties-of-spanish-adaptation-of-the-pdd-mrs-scale-in-adults-with-intellectual-developmental-disorders-the-evtea-di-scale
#7
Maria José Cortés, Carmen Orejuela, Gemma Castellví, Annabel Folch, Lluís Rovira, Luis Salvador-Carulla, Marcia Irazábal, Silvia Muñoz, Josep Maria Haro, Elisabet Vilella, Rafael Martínez-Leal
Strategies for the early detection of autism spectrum disorders (ASD) in people with intellectual developmental disorder (IDD) are urgently needed, but few specific tools have been developed. The present study examines the psychometric properties of the EVTEA-DI, a Spanish adaptation of the PDD-MRS, in a large randomized sample of 979 adults with IDD. Factorial solution analysis suggested a three-factor solution (stereotyped behavior, communication, and social behavior). The EVTEA-DI showed good reliability and convergent validity when compared to the Childhood Autism Rating Scale...
November 29, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29178595/a-simplified-monte-carlo-algorithm-considering-large-angle-scattering-for-fast-and-accurate-calculation-of-proton-dose
#8
Taisuke Takayanagi, Shusuke Hirayama, Shinichiro Fujitaka, Rintaro Fujimoto
PURPOSE: The purpose of this study is to improve dose calculation accuracy of the simplified Monte Carlo (SMC) algorithm in the low-dose region. Because conventional SMC algorithms calculate particle scattering in consideration of multiple Coulomb scattering (MCS) only, they approximate lateral dose profiles by a single Gaussian function. However, it is well known that the low-dose region spreads away from the beam axis, and it has been pointed out that modeling of the low-dose region is important to calculated dose accurately...
November 27, 2017: Journal of Applied Clinical Medical Physics
https://www.readbyqxmd.com/read/29147462/oxygen-sensing-nox4-generates-genotoxic-ros-to-induce-premature-senescence-of-nucleus-pulposus-cells-through-mapk-and-nf-%C3%AE%C2%BAb-pathways
#9
Chencheng Feng, Yang Zhang, Minghui Yang, Minghong Lan, Huan Liu, Bo Huang, Yue Zhou
Senescence is a crucial driver of intervertebral disc degeneration (IDD). Disc cells are exposed to high oxygen tension due to neovascularization in degenerative discs. However, the effect of oxygen tension on disc cell senescence was unknown. Herein, rat nucleus pulposus (NP) cells were cultured under 20% O2 or 1% O2. Consequently, ROS induced by 20% O2 caused DNA damage and then activated p53-p21-Rb and p16-Rb pathways via ERK signaling to induce NP cell senescence. It also induced catabolic and proinflammatory phenotype of NP cells via MAPK and NF-κB pathways...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29145327/current-practice-and-usual-care-of-major-cervical-disorders-in-korea-a-cross-sectional-study-of-korean-health-insurance-review-and-assessment-service-national-patient-sample-data
#10
A Ryeon Choi, Joon-Shik Shin, Jinho Lee, Yoon Jae Lee, Me-Riong Kim, Min-Seok Oh, Eun-Jung Lee, Sungchul Kim, Mia Kim, In-Hyuk Ha
Neck pain is a highly common condition and is the 4th major cause of years lived with disability. Previous literature has focused on the effect of specific treatments, and observations of actual practice are lacking to date. This study examined Korean health insurance review and assessment service (HIRA) claims data to the aim of assessing prevalence and comparing current medical practice and costs of cervical disorders in Korea.Current practice trends were determined through assessment of prevalence, total expenses, per-patient expense, average days in care, average days of visits, sociodemographic characteristics, distribution of medical costs, and frequency of treatment types of high frequency cervical disorders (cervical sprain/strain, cervical intervertebral disc displacement [IDD], and cervicalgia)...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137556/all-cause-30-day-readmissions-among-persons-with-intellectual-and-developmental-disabilities-and-mental-illness
#11
Robert Balogh, Elizabeth Lin, Kristin Dobranowski, Avra Selick, Andrew S Wilton, Yona Lunsky
OBJECTIVE: Early hospital readmissions within 30 days of discharge are common and costly. This research describes predictors of all-cause, 30-day hospital readmissions among persons with intellectual and developmental disabilities (IDD), a group known to experience high rates of hospitalization. METHODS: A cohort of 66,484 adults with IDD from Ontario, Canada, was used to create two subgroups: individuals with IDD only and those with IDD and mental illness. The rates of hospital readmission were determined and contrasted with a comparison subgroup of people without IDD who have mental illness...
November 15, 2017: Psychiatric Services: a Journal of the American Psychiatric Association
https://www.readbyqxmd.com/read/29119672/self-compassion-and-psychological-distress-in-parents-of-young-people-and-adults-with-intellectual-and-developmental-disabilities
#12
Suzanne Robinson, Richard P Hastings, Jonathan A Weiss, Jaffni Pagavathsing, Yona Lunsky
BACKGROUND: Parenting an individual with intellectual and developmental disabilities (IDD) can be challenging, particularly during adulthood. It is important to better understand ways of supporting families as individuals with IDD age. Self-compassion is a potential internal coping resource for parents, and is strongly linked to positive mental health outcomes, though research has yet to examine it in parents of adults with IDD. METHOD: The current study examines the association between self-compassion and measures of well-being for 56 parents of adults with IDD...
November 9, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29118205/epigenetic-etiology-of-intellectual-disability
#13
Shigeki Iwase, Nathalie G Bérubé, Zhaolan Zhou, Nael Nadif Kasri, Elena Battaglioli, Marilyn Scandaglia, Angel Barco
Intellectual disability (ID) is a prevailing neurodevelopmental condition associated with impaired cognitive and adaptive behaviors. Many chromatin-modifying enzymes and other epigenetic regulators have been genetically associated with ID disorders (IDDs). Here we review how alterations in the function of histone modifiers, chromatin remodelers, and methyl-DNA binding proteins contribute to neurodevelopmental defects and altered brain plasticity. We also discuss how progress in human genetics has led to the generation of mouse models that unveil the molecular etiology of ID, and outline the direction in which this field is moving to identify therapeutic strategies for IDDs...
November 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/29115874/who-helps-characteristics-and-correlates-of-informal-supporters-to-adults-with-disabilities
#14
Kelli A Sanderson, Meghan M Burke, Richard C Urbano, Catherine K Arnold, Robert M Hodapp
This study examined who provides informal (or unpaid) supports to people with intellectual and developmental disabilities (IDD). Participants included 657 adult siblings of people with disabilities who responded to a national survey about informal supports in the areas of recreation, employment, and housing. Results indicated that most people with IDD received informal supports, with parents and sibling respondents most often providing those supports. Support was most commonly received in recreation, as opposed to housing or employment...
November 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29115872/the-feasibility-of-group-video-conferencing-for-promotion-of-physical-activity-in-adolescents-with-intellectual-and-developmental-disabilities
#15
Lauren T Ptomey, Erik A Willis, J Leon Greene, Jessica C Danon, Tara K Chumley, Richard A Washburn, Joseph E Donnelly
Physical activity (PA) rates of adolescents with intellectual and developmental disabilities (IDD) are low and effective strategies for increasing PA are limited. The purpose of this study was to assess the feasibility of a group-based PA intervention that was delivered remotely to adolescents with IDD. Participants attended 30-min group PA sessions 3 times a week. PA sessions were delivered in their homes by video conferencing on a tablet computer. Thirty-one participants enrolled and 29 completed the 12-week intervention...
November 2017: American Journal on Intellectual and Developmental Disabilities
https://www.readbyqxmd.com/read/29111957/correlates-of-voting-participation-of-people-with-intellectual-and-developmental-disabilities
#16
Carli Friedman, Mary C Rizzolo
People with intellectual and developmental disabilities (IDD) vote less frequently than nondisabled people and people with other disabilities. This study explores what factors facilitate and hinder people with IDD's voting participation. To do so, 1,341 people with IDD were surveyed using the Personal Outcome Measures®. Binary logistic regressions revealed significant relationships between voting participation, and support needs, residence types, guardianship statuses, and organizational supports. Along with the right supports, attention to barriers that might exist can ensure people with IDD are able to make use of their civil rights and participate in this crucial form of civic engagement...
November 7, 2017: Journal of Social Work in Disability & Rehabilitation
https://www.readbyqxmd.com/read/29109122/the-type-1-diabetes-resistance-locus-idd22-controls-trafficking-of-autoreactive-ctls-into-the-pancreatic-islets-of-nod-mice
#17
Robert L Whitener, Lisa Gallo Knight, Jianwei Li, Sarah Knapp, Shuyao Zhang, Mani Annamalai, Vadim M Pliner, Dongtao Fu, Ilian Radichev, Christina Amatya, Alexei Savinov, Arif Yurdagul, Shuai Yuan, John Glawe, Christopher G Kevil, Jing Chen, Scott E Stimpson, Clayton E Mathews
Type 1 diabetes (T1D) has a strong genetic component. The insulin dependent diabetes (Idd)22 locus was identified in crosses of T1D-susceptible NOD mice with the strongly T1D-resistant ALR strain. The NODcALR-(D8Mit293-D8Mit137)/Mx (NOD-Idd22) recombinant congenic mouse strain was generated in which NOD mice carry the full Idd22 confidence interval. NOD-Idd22 mice exhibit almost complete protection from spontaneous T1D and a significant reduction in insulitis. Our goal was to unravel the mode of Idd22-based protection using in vivo and in vitro models...
November 6, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29080483/implementation-and-evaluation-of-health-passport-communication-tools-in-emergency-departments
#18
Marina Heifetz, Yona Lunsky
BACKGROUND: People with IDD (intellectual or developmental disabilities) and their families consistently report dissatisfaction with their emergency department experience. Clear care plans and communication tools may not only improve the quality of patient care, but also can prevent unnecessary visits and reduce the likelihood of return visits. AIMS: To evaluate communication tools to be used by people with IDD in psychiatric and general emergency departments in three different regions of Ontario...
October 25, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/29067127/inhibition-of-mir-27a-suppresses-the-inflammatory-response-via-the-p38-mapk-pathway-in-intervertebral-disc-cells
#19
Zhenguo Cao, Liang Chen
The current study aimed to investigate the role of miR-27a in intervertebral disc degeneration (IDD) and to examine the underlying mechanisms. Quantitative polymerase chain reaction (qPCR) was performed to detect the expression level of miR-27a in the nucleus pulposus (NP) tissues of patients with IDD, and the results revealed an increasing expression of miR-27a in IDD compared with the control. To further investigate the role of miR-27a in IDD, a stable human NP cell line with low miR-27a expression was generated by transfecting cells with a lentiviral antigomiR-27a inhibitor...
November 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29064145/the-roles-of-adult-siblings-in-the-lives-of-people-with-severe-intellectual-and-developmental-disabilities
#20
Sarah A Hall, Zach Rossetti
BACKGROUND: Siblings of people with intellectual and developmental disabilities (IDD) often assume key roles to support their brothers and sisters. For people with more significant support needs, siblings may undertake additional roles and responsibilities throughout their lives. The purpose of the present study was to identify and describe the roles of adult siblings who have a brother or sister with severe IDD. METHOD: Seventy-nine adult siblings from 19 to 72 years of age completed an online survey with open-ended questions about the roles they play in their relationships with their brother or sister...
October 24, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
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