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https://www.readbyqxmd.com/read/28816027/estimation-of-live-birth-and-population-prevalence-of-down-syndrome-in-nine-u-s-states
#1
Gert de Graaf, Frank Buckley, Jennifer Dever, Brian G Skotko
For all of the U.S. states with sufficient data, we estimated live birth and population prevalences for Down syndrome (DS). As social service resources vary between states, such data are important for public policy discussions and state planning. We predicted the actual and nonselective live birth prevalence, and population prevalence, for DS in nine U.S. states based on publicly available datasets from the Centers for Disease Control and Prevention and the Integrated Public Use Microdata Series. As of 2010, we estimated a population size for people with DS of 4,554 in MA (population prevalence 1 in 1,440), 6,101 in NJ (1 in 1,443), 14,315 in NY (1 in 1,355), 9,739 in IL (1 in 1,319), 4,354 in IN (1 in 1,491), 7,295 in MI (1 in 1,354), 9,099 in FL (1 in 2,071), 3,014 in KY (1 in 1,442), and 3,596 in AZ (1 in 1,784)...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815989/can-we-improve-risk-communication-about-non-invasive-prenatal-testing
#2
Dafina Petrova, Rocio Garcia-Retamero
Diagnostic information from prenatal screening for Down syndrome can help families prepare for the birth of a child with special needs or help them decide whether they want to continue with the pregnancy. Currently in the UK women are offered the combined screening test (a blood test and an ultrasound) that categorizes them into "higher risk" or "lower risk" groups (see www.nhs.uk). Women at higher risk are offered a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS). These diagnostic tests are invasive and carry a 0...
August 17, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28815893/the-facial-morphology-in-down-syndrome-a-3d-comparison-of-patients-with-and-without-obstructive-sleep-apnea
#3
Yasas S N Jayaratne, Ibrahim Elsharkawi, Eric A Macklin, Lauren Voelz, Gil Weintraub, Dennis Rosen, Brian G Skotko
Obstructive sleep apnea (OSA) occurs at a high prevalence in patients with Down syndrome (DS). A polysomnogram, which is often cumbersome and challenging, remains the gold standard method of diagnosing OSA. OSA in patients with DS is often attributed to skeletal and soft-tissue structural alterations that are characteristic of the DS phenotype; as such, we hypothesized that assessing anthropometric facial measurements may be predictive of OSA in patients with DS. We used the 3dMDface sterophotography system to capture and create 3D facial images, and we subsequently identified facial landmarks using a single, experienced investigator and utilizing proprietary software to calculate inter-landmark distances and angles...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815878/prediction-of-energy-expenditure-during-walking-in-adults-with-down-syndrome
#4
Stamatis Agiovlasitis, Goncalo V Mendonca, Jeffrey A McCubbin, Bo Fernhall
BACKGROUND: When developing walking programmes for improving health in adults with Down syndrome (DS), physical activity professionals are in need of an equation for predicting energy expenditure. We therefore developed and cross-validated an equation for predicting the rate of oxygen uptake (VO2 ; an index of energy expenditure) for adults with and without DS. METHOD: A total of 469 VO2 observations during walking across different speeds were available from 54 adults with DS and 61 adults without DS...
August 16, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28814979/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#5
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28809040/a-mobile-app-for-sharing-contacts-on-your-cell-an-editorial-highlight-for-the-physiological-role-of-the-amyloid-precursor-protein-app-as-an-adhesion-molecule-in-the-developing-nervous-system-on-doi-10-1111-jnc-14122
#6
EDITORIAL
George William Rebeck, Daniel T S Pak
This is an Editorial for a review that Sosa and coworkers present in the current issue of the Journal of Neurochemistry of physiological functions for amyloid precursor protein (APP) at dynamic cellular contact sites such as growth cones, neuronal migration tracts, and synapses. Here, APP physically links the extracellular and intracellular milieus through a multitude of binding partners. From these observations, the authors offer a model of APP as a cell adhesion molecule in the brain, providing a context for understanding its role in Alzheimer's disease and Down syndrome...
August 15, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28807816/mtor-in-down-syndrome-role-in-a%C3%A3-and-tau-neuropathology-and-transition-to-alzheimer-disease-like-dementia
#7
REVIEW
Fabio Di Domenico, Antonella Tramutola, Cesira Foppoli, Elisabeth Head, Marzia Perluigi, D Allan Butterfield
The mammalian target of rapamycin (mTOR) is a serine/threonine protein kinase involved in the regulation of protein synthesis and degradation, longevity and cytoskeletal formation. The mTOR pathway represents a key growth and survival pathway involved in several diseases such as cancer, obesity, cardiovascular disease and neurodegenerative diseases. Numerous studies linked the alterations of mTOR pathway to age-dependent cognitive decline, pathogenesis of Alzheimer disease (AD) and AD-like dementia in Down syndrome (DS)...
August 11, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28806899/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#8
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
August 15, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28805618/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-21q11-2-q21-1-and-a-literature-review
#9
Chih-Ping Chen, Ming Chen, Chia-Hsun Wu, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1. CASE REPORT: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar [18]/46,XX [4]. The parental karyotypes were normal...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#10
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28802352/assessment-of-weight-gain-following-adenotonsillectomy-in-children-with-down-syndrome
#11
Christopher F D'Esposito, Zachary Farhood, Andrew B Baker, Shaun A Nguyen, Angela C LaRosa, Chitra Lal, David R White
INTRODUCTION: Adenotonsillectomy (T&A) has been associated with postoperative weight gain in children. The purpose of this study is to determine whether a similar association exists in children with Down syndrome (DS). METHODS: The medical records of 311 DS patients were reviewed. Subjects were classified into either a control group or surgical group based on whether they had undergone adenotonsillectomy (T&A). Subjects were excluded if they only had one recorded BMI...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28801420/protocol-study-for-a-randomised-controlled-double-blind-clinical-trial-involving-virtual-reality-and-anodal-transcranial-direct-current-stimulation-for-the-improvement-of-upper-limb-motor-function-in-children-with-down-syndrome
#12
Jamile Benite Palma Lopes, Luanda André Collange Grecco, Renata Calhes Franco de Moura, Roberta Delasta Lazzari, Natalia de Almeida Carvalho Duarte, Isabela Miziara, Gileno Edu Lameira de Melo, Arislander Jonathan Lopes Dumont, Manuela Galli, Claudia Santos Oliveira
INTRODUCTION: Down syndrome results in neuromotor impairment that affects selective motor control, compromising the acquisition of motor skills and functional independence. The aim of the proposed study is to evaluate and compare the effects of multiple-monopolar anodal transcranial direct current stimulation and sham stimulation over the primary motor cortex during upper limb motor training involving virtual reality on motor control, muscle activity, cerebral activity and functional independence...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28799131/pulmonary-vascular-disease-in-a-failed-fontan-patient-with-down-s-syndrome
#13
Masaya Aoki, Keiichi Hirono, Tomonori Higuma, Yoko Suzuki, Kazuhiko Nakayama, Akio Yamashita, Kazuaki Fukahara, Fukiko Ichida, Noriaki Emoto, Naoki Yoshimura
It is well known that Down's syndrome is a strong risk factor for mortality after Fontan operations. We performed two lung biopsies in a Down's syndrome patient who underwent staged Fontan operations. The pathological findings revealed severe pulmonary arterial hypertrophy and a quantitative real-time polymerase chain reaction revealed the overexpression of endothelin and a decline in the eNOS level at the Fontan operation. Although the preoperative hemodynamic studies revealed that all of the criteria for Fontan had been fulfilled, the patient died of acute cardiac insufficiency, 35 days after the Fontan operation...
August 10, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28798921/screening-of-celiac-disease-in-down-syndrome-old-and-new-dilemmas
#14
REVIEW
Momcilo Pavlovic, Karolina Berenji, Marko Bukurov
Celiac disease (CD) is a common and well defined autoimmune disorder caused by gliadin and related proteins of wheat, rye, and barley. Epidemiologic studies confirmed that CD is highly associated with other autoimmune diseases and with Down syndrome (DS). The symptomatic form of CD in patients with DS is more frequent than asymptomatic forms. However, growth impairment, anemia, intermittent diarrhea, and constipation are symptoms and signs typically of children with DS without CD. Late identification of the disease can lead to various complications, sometimes even very severe...
July 16, 2017: World Journal of Clinical Cases
https://www.readbyqxmd.com/read/28798667/the-foxp2-driven-network-in-developmental-disorders-and-neurodegeneration
#15
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28796822/growth-of-the-hard-palate-in-infants-with-down-syndrome-compared-with-healthy-infants-a-retrospective-case-control-study
#16
Daniel Klingel, Ariane Hohoff, Robert Kwiecien, Dirk Wiechmann, Thomas Stamm
OBJECTIVE: To investigate morphological differences of the hard palate in infants with Down syndrome (DS) compared with a volumetric-matched control group (CG). METHODS: Trial design: retrospective case control study. Based on inclusion and exclusion criteria, plaster casts of edentulous maxillae of 40 DS infants (20 females and 20 males, aged 221.3 ± 132.4 days) and 40 CG infants (20 females and 20 males, aged 53.9 ± 87.2 days) were digitized and converted into 3-dimensional stereolithography data...
2017: PloS One
https://www.readbyqxmd.com/read/28795347/health-related-quality-of-life-in-individuals-with-down-syndrome-results-from-a-non-interventional-longitudinal-multi-national-study
#17
Diana Rofail, Daniel Froggatt, Rafael de la Torre, Jamie Edgin, Priya Kishnani, Renaud Touraine, Sarah Whitwham, Lisa Squassante, Omar Khwaja, Xavier Liogier D'Ardhuy
INTRODUCTION: To date, there is little research on health-related quality of life (HRQoL) in Down syndrome (DS), and existing research is variable with regard to reported HRQoL in DS. There are also no HRQoL measures developed specifically to be used with individuals with Down syndrome. METHODS: A multi-national, longitudinal, 24-week non-interventional study was conducted in adolescents and adults with DS. HRQoL was assessed (n = 90) using the parent-report KIDSCREEN-27 questionnaire...
August 9, 2017: Advances in Therapy
https://www.readbyqxmd.com/read/28791185/use-of-hemadsorption-in-a-case-of-pediatric-toxic-shock-syndrome
#18
Andrea Berkes, Edit Szikszay, János Kappelmayer, Adrienne Kerényi, Tamás Szabó, László Ujhelyi, Krisztina Bari, György Balla, József Balla
BACKGROUND: Toxic shock syndrome is a potentially fatal toxin-mediated disease. The role of toxins in this clinical entity made us hypothesize that extracorporeal blood purification with CytoSorb® could play a beneficial role in the clinical management of toxic shock syndrome. This case report describes the successful treatment of toxic shock syndrome using a combination of renal replacement therapy and hemadsorption in a pediatric patient. CASE PRESENTATION: A 5-year-old girl with Down's syndrome presented with an inflamed area surrounding an insect bite, signs of systemic inflammation, and multiple organ failure...
2017: Case Reports in Critical Care
https://www.readbyqxmd.com/read/28789572/family-members-and-health-professionals-perspectives-on-future-life-planning-of-ageing-people-with-down-syndrome-a-qualitative-study
#19
Venusia Covelli, Alberto Raggi, Chiara Paganelli, Matilde Leonardi
OBJECTIVES: To address the way in which primary caregivers of people over 45 with Down syndrome describe daily life activities and context and foresee their future. METHODS: Thirteen family members and 15 health professionals participated to four focus groups. Meaningful concepts were identified and linked to the International Classification of Functioning, Disability and Health using established linking rules. RESULTS: A total of 258 relevant concepts were identified and linked to 75 categories of the classification: 38 were from activity and participation and 17 from environmental factors domains...
August 8, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28782495/rapidly-progressive-pulmonary-veno-occlusive-disease-in-an-infant-with-down-syndrome
#20
Jun Muneuchi, Shinichiro Oda, Daisuke Shimizu
A 4-month-old girl with Down syndrome showed unexpected deterioration of pulmonary hypertension. Despite aggressive pulmonary vasodilation therapy, the patient died at 5 months of age. Lung autopsy showed that the pulmonary veins were obliterated by intimal fibrous thickening, and the media of the veins was arterialised with an increase in elastic fibres. Pulmonary veno-occlusive disease should be considered in the management of individuals with Down syndrome.
September 2017: Cardiology in the Young
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