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    A Rare Double Aneuploidy Case (Down-Klinefelter).
    J Pediatr Genet 2017 Dec 6;6(4):241-243. Epub 2017 Jul 6.
    Department of Medical Genetics, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana, Turkey.
    Down's syndrome has its own dysmorphic findings and is accompanied by mental retardation and hypotonia. Klinefelter's syndrome is a syndrome caused by a numerical abnormality that affects male physical and cognitive development. This case reports a unique finding of 48,XXY, + 21 and a current literature review. Read More

    Analysis of Copy Number Variants on Chromosome 21 in Down Syndrome-Associated Congenital Heart Defects.
    G3 (Bethesda) 2017 Nov 15. Epub 2017 Nov 15.
    Emory University
    One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold. Read More

    Family management of childhood chronic conditions: Does it make a difference if the child has an intellectual disability?
    Am J Med Genet A 2017 Nov 15. Epub 2017 Nov 15.
    University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.
    The purpose of this analysis was to assess the applicability of the Family Management Measure (FaMM) to families in which there was a child with an intellectual disability versus a chronic condition. Drawing on data from 571 parents of children with a chronic physical condition and 539 parents of children with Down syndrome, we compared the two groups across the six FaMM scales. After accounting for the covariate effects of race, ethnicity, family income, and child age, we found significant differences in four of the six FaMM scales, with parents of children with Down syndrome reporting a significantly more positive view on the Condition Management Effort and View of Condition Impact scales and a significantly less positive view on the Child's Daily Life and Condition Management Ability scales than parents of children with a chronic physical condition. Read More

    Umbilical cord-derived mesenchymal stem cells alleviated inflammation and inhibited apoptosis in interstitial cystitis via AKT/mTOR signaling pathway.
    Biochem Biophys Res Commun 2017 Nov 11. Epub 2017 Nov 11.
    Department of Urology, The Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, Guangdong Province, China. Electronic address:
    Interstitial cystitis (IC) is a bladder syndrome characterized by pelvic pain and urinary frequency without infection or other identifiable pathology. There are no effective treatments to cure IC. This study investigated the effects of human umbilical cord-derived mesenchymal stem cells (UC-MSCs) injection on IC rat model. Read More

    Aberrations in circulating inflammatory cytokine levels in patients with Down syndrome: a meta-analysis.
    Oncotarget 2017 Oct 19;8(48):84489-84496. Epub 2017 Sep 19.
    Center on Translational Neuroscience, College of Life and Environmental Sciences, Minzu University of China, Beijing 100081, China.
    Evidence suggests that immune system alterations in Down syndrome (DS) may be early events that drive neuropathological and cognitive changes of Alzheimer's disease. The primary objective of this meta-analysis was to investigate whether there is an abnormal cytokine profile in DS patients when compared with healthy control (HC) subjects. A systematic search of Pubmed and Web of Science identified 19 studies with 957 DS patients and 541 HC subjects for this meta-analysis. Read More

    Endocrine manifestations of Down syndrome.
    Curr Opin Endocrinol Diabetes Obes 2017 Nov 11. Epub 2017 Nov 11.
    aDivision of Pediatric Endocrinology bDivision of General Academic Pediatrics, Department of Pediatrics cDepartment of Pediatrics, Down Syndrome Clinic, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
    Purpose Of Review: To summarize the recent developments in endocrine disorders associated with Down syndrome.

    Recent Findings: Current research regarding bone health and Down syndrome continues to show an increased prevalence of low bone mass and highlights the importance of considering short stature when interpreting dual energy x-ray absorptiometry. The underlying cause of low bone density is an area of active research and will shape treatment and preventive measures. Read More

    Duane retraction syndrome: causes, effects and management strategies.
    Clin Ophthalmol 2017 30;11:1917-1930. Epub 2017 Oct 30.
    Pediatric Ophthalmology and Strabismus Services, Child Sight Institute, Jasti V Ramannama Children's Eye Care Center, KAR Campus, Hyderabad, India.
    Duane retraction syndrome (DRS) is a congenital eye movement anomaly characterized by variable horizontal duction deficits, with narrowing of the palpebral fissure and globe retraction on attempted adduction, occasionally accompanied by upshoot or down-shoot. The etiopathogenesis of this condition can be explained by a spectrum of mechanical, innervational, neurologic and genetic abnormalities occurring independently or which influence each other giving rise to patterns of clinical presentations along with a complex set of ocular and systemic anomalies. Huber type I DRS is the most common form of DRS with an earlier presentation, while Huber type II is the least common presentation. Read More

    Effects of hawthorn (Crataegus pentagyna) leaf extract on electrophysiologic properties of cardiomyocytes derived from human cardiac arrhythmia-specific induced pluripotent stem cells.
    FASEB J 2017 Nov 13. Epub 2017 Nov 13.
    Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, Academic Center for Education, Culture and Research, Tehran, Iran;
    Cardiac arrhythmias are major life-threatening conditions. The landmark discovery of induced pluripotent stem cells has provided a promising in vitro system for modeling hereditary cardiac arrhythmias as well as drug development and toxicity testing. Nowadays, nutraceuticals are frequently used as supplements for cardiovascular therapy. Read More

    Relaxin-2 connecting peptide (pro-RLX2) levels in second trimester serum samples to predict preeclampsia.
    Pregnancy Hypertens 2017 Nov 7. Epub 2017 Nov 7.
    Women and Infants Hospital, Providence, USA. Electronic address:
    Objectives: Preeclampsia is a serious complication of pregnancy, threatening fetal and maternal health. The aim of our study is to examine the association between preeclampsia and the connecting peptide of the pregnancy hormone relaxin (pro-RLX2) as a potential new biochemical marker.

    Study Design: This is a nested case/control study derived from the cohort of pregnancies delivering at Women & Infants Hospital. Read More

    [Clinical features of Rubinstein-Taybi syndrome and novel mutation in the CREBBP gene: an analysis of one case].
    Zhongguo Dang Dai Er Ke Za Zhi 2017 Nov;19(11):1155-1158
    Department of Pediatrics, First People's Hospital of Yunnan Province, Kunming 650032, China.
    The patient was a girl aged 3 years and 8 months with normal body length and body weight at birth. The girl had feeding difficulty after birth. Her height, body weight, and head circumference were below the 3rd percentile. Read More

    Oestrogen receptor beta isoform expression in sporadic colorectal cancer, familial adenomatous polyposis and progressive stages of colorectal cancer.
    BMC Cancer 2017 Nov 13;17(1):754. Epub 2017 Nov 13.
    Colorectal Tumor Nucleus of the Pelvic Surgery Department, A.C. Camargo Cancer Center, São Paulo, SP, Brazil.
    Background: Among the sex hormones, oestrogen may play a role in colorectal cancer, particularly in conjunction with oestrogen receptor-β (ERβ). The expression of ERβ isoform variants and their correlations with familial adenomatous polyposis (FAP) syndrome and sporadic colorectal carcinomas are poorly described.

    Methods: This study aimed to investigate the expression levels of the ERβ1, ERβ2, ERβ4 and ERβ5 isoform variants using quantitative RT-PCR (921 analyses) in FAP, normal mucosa, adenomatous polyps and sporadic colorectal carcinomas. Read More

    Smoldering Development of Acute Megakaryoblastic Leukemia with Clonal Evolution in an Infant without Down Syndrome.
    Klin Padiatr 2017 Nov 13;229(6):352-354. Epub 2017 Nov 13.
    Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich-Heine University of Duesseldorf, Duesseldorf, Germany.

    Screening of six polymorphisms related with folate metabolism in parents of individuals with Down syndrome.
    J Matern Fetal Neonatal Med 2017 Nov 12:1-191. Epub 2017 Nov 12.
    a Patologia, Genética e Evolução , Universidade Federal do Triângulo Mineiro , Centro , Uberaba , Brazil.
    Objective: The study aim to investigate MTHFR C677T, MTHFR A1298C, RFC1 A80G, MTR A2756G, CBS 844ins68, MTRR A66G polymorphisms in Down syndrome (DS) parents.

    Methods: Polymorphisms were evaluated in 35 mothers and 24 fathers of individuals with free trisomy of chromosome 21 confirmed by karyotype. The control group included 26 mothers and 26 fathers who had no children with DS. Read More

    Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines.
    Am J Med Genet A 2017 Nov 12. Epub 2017 Nov 12.
    Children's Hospital of Wisconsin, Down Syndrome Clinic of Wisconsin, Milwaukee, Wisconsin.
    Adults with Down syndrome (DS) represent a unique population who are in need of clinical guidelines to address their medical care. The United States Preventive Service Task Force (USPSTF) has developed criteria for prioritizing conditions of public health importance with the potential for providing screening recommendations to improve clinical care. The quality of existing evidence needed to inform clinical guidelines has not been previously reviewed. Read More

    Protracted febrile myalgia syndrome treated with pulse of corticosteroids.
    Semin Arthritis Rheum 2017 Oct 12. Epub 2017 Oct 12.
    Pediatric Rheumatology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel. Electronic address:
    Objective: This study describes our 5-year experience treating protracted febrile myalgia syndrome (PFMS) with pulsed doses of corticosteroids.

    Methods: Eight patients with PFMS who received pulse corticosteroid therapy were identified from the electronic database of a tertiary pediatric medical center (2011-2016). Their clinical and laboratory data were collected. Read More

    Speech disfluencies in children with Down Syndrome.
    J Commun Disord 2017 Nov 8. Epub 2017 Nov 8.
    Dept. of Speech-Language Therapy and Audiology, Thomas More University College, Antwerp, Belgium. Electronic address:
    Purpose: Speech and language development in individuals with Down syndrome is often delayed and/or disordered and speech disfluencies appear to be more common. These disfluencies have been labeled over time as stuttering, cluttering or both.

    Findings: were usually generated from studies with adults or a mixed age group, quite often using different methodologies, making it difficult to compare findings. Read More

    Down Syndrome iPSC-Derived Astrocytes Impair Neuronal Synaptogenesis and the mTOR Pathway In Vitro.
    Mol Neurobiol 2017 Nov 11. Epub 2017 Nov 11.
    Department of Neurosurgery and Neurology, Laboratory of Neuroscience, Universidade Federal de São Paulo (UNIFESP/EPM), São Paulo, São Paulo, Brazil.
    Several methods have been used to study the neuropathogenesis of Down syndrome (DS), such as mouse aneuploidies, post mortem human brains, and in vitro cell culture of neural progenitor cells. More recently, induced pluripotent stem cell (iPSC) technology has offered new approaches in investigation, providing a valuable tool for studying specific cell types affected by DS, especially neurons and astrocytes. Here, we investigated the role of astrocytes in DS developmental disease and the impact of the astrocyte secretome in neuron mTOR signaling and synapse formation using iPSC derived from DS and wild-type (WT) subjects. Read More

    The shrimp hormone receptor acts as an anti-apoptosis and anti-inflammatory factor in innate immunity.
    Fish Shellfish Immunol 2017 Nov 8. Epub 2017 Nov 8.
    College of Animal Science and Technology, Zhejiang Agriculture and Forestry University, Hangzhou 311300, China. Electronic address:
    Previously, we found that the expression of several genes, including HR, varied in Drosophila melanogaster after white spot syndrome virus (WSSV) infection. In this present study, we further investigated the role of HR in Kuruma shrimp, Marsupenaeus japonicus and determined its anti-apoptosis and anti-inflammation role in the innate immune system. We successfully identified a partial sequence (866 bp in length) of the M. Read More

    Dynamics in prevalence of Down syndrome in children with congenital heart disease.
    Eur J Pediatr 2017 11 10. Epub 2017 Nov 10.
    Department of Congenital Heart Disease-Paediatric Cardiology, Deutsches Herzzentrum Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.
    We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. Read More

    Overexpression of DYRK1A, a Down Syndrome Candidate gene, Impairs Primordial Germ Cells Maintenance and Migration in zebrafish.
    Sci Rep 2017 Nov 10;7(1):15313. Epub 2017 Nov 10.
    SCU-CUHK Joint Laboratory for Reproductive Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, 610041, People's Republic of China.
    DYRK1A, located on chromosome 21, is a major candidate gene of Down syndrome (DS, trisomy21), and its overexpression is associated with abnormal phenotype of Down syndrome patients. The defects of gonads and germ cells in Down Syndrome suggest that overexpression of DYRK1A has potential effect on primordial germ cells (PGCs) development. Human and zebrafish DYRK1A protein sequence possess 75. Read More

    Prospective study of autism phenomenology and the behavioural phenotype of Phelan-McDermid syndrome: comparison to fragile X syndrome, Down syndrome and idiopathic autism spectrum disorder.
    J Neurodev Disord 2017 Nov 10;9(1):37. Epub 2017 Nov 10.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, B15 2TT, UK.
    Background: The limited behavioural phenotype literature on Phelan-McDermid syndrome (PMS) indicates atypically high levels of activity, impulsivity and autism spectrum disorder (ASD) behaviours. Divergent profiles of ASD in PMS are also reported, with some studies demonstrating similarities to idiopathic ASD and others indicating an uneven profile of social and communication impairments and repetitive behaviours. An evaluation of the behavioural phenotype of PMS and the prevalence and phenomenology of ASD is warranted, particularly given the causal involvement of the SHANK3 gene in the aetiology of PMS. Read More

    Women's Preference For Non-Invasive Prenatal DNA Testing (NIPT) Versus Chromosomal Microarray After Screening For Down Syndrome: A Prospective Study.
    BJOG 2017 Nov 10. Epub 2017 Nov 10.
    Dept Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China.
    Objective: To examine preference for follow-up test in women screened high or intermediate risk in 1(st) or 2(nd) trimester Down syndrome screening.

    Design: Prospective cohort study.

    Setting: Three public hospitals in Hong Kong, China. Read More

    Genomics-based non-invasive prenatal testing for detection of fetal chromosomal aneuploidy in pregnant women.
    Cochrane Database Syst Rev 2017 Nov 10;11:CD011767. Epub 2017 Nov 10.
    Population Health and Optimal Health Practices Research Axis, CHU de Québec - Université Laval, 45 Rue Leclerc, Québec City, QC, Canada, G1L 3L5.
    Background: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method. Read More

    Mechanisms of transcriptional regulation by p53.
    Cell Death Differ 2017 Nov 10. Epub 2017 Nov 10.
    Department of Pharmacology, University of Colorado School of Medicine, Aurora, CO 80045, USA.
    p53 is a transcription factor that suppresses tumor growth through regulation of dozens of target genes with diverse biological functions. The activity of this master transcription factor is inactivated in nearly all tumors, either by mutations in the TP53 locus or by oncogenic events that decrease the activity of the wild-type protein, such as overexpression of the p53 repressor MDM2. However, despite decades of intensive research, our collective understanding of the p53 signaling cascade remains incomplete. Read More

    Speech therapy in adolescents with Down syndrome: In pursuit of communication as a fundamental human right.
    Int J Speech Lang Pathol 2017 Nov 10:1-9. Epub 2017 Nov 10.
    b Down Syndrome Research Foundation , Vancouver , Canada.
    Purpose: The achievement of speech intelligibility by persons with Down syndrome facilitates their participation in society. Denial of speech therapy services by virtue of low cognitive skills is a violation of their fundamental human rights as proclaimed in the Universal Declaration of Human Rights in general and in Article 19 in particular. Here, we describe the differential response of an adolescent with Down syndrome to three speech therapy interventions and demonstrate the use of a single subject randomisation design to identify effective treatments for children with complex communication disorders. Read More

    Environment learning from virtual exploration in individuals with down syndrome: the role of perspective and sketch maps.
    J Intellect Disabil Res 2017 Nov 9. Epub 2017 Nov 9.
    Department of Developmental Psychology and Socialization, University of Padova, Padua, Italy.
    Background: Spatial knowledge about an environment is an important determinant of ability to move effectively within it and of personal autonomy. Individuals with Down's syndrome (DS) have difficulty managing configural visuospatial information.

    Method: Twenty-nine individuals with DS and 29 typically developing (TD) children, matched for mental age, learned about environments through virtual exploration using a route or survey view. Read More

    Chronic intermittent hypoxia exposure induces kidney injury in growing rats.
    Sleep Breath 2017 Nov 9. Epub 2017 Nov 9.
    Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, 109 Xueyuan Western Road, Wenzhou, Zhejiang, 325027, People's Republic of China.
    Objective: The objectives of this paper are to examine the effect of chronic intermittent hypoxia (CIH) on the morphological changes in the kidney of growing rats and to explore the mechanisms underlying the CIH-induced renal damage.

    Methods: Forty Sprague-Dawley rats were randomly divided into two groups: 2 and 4 weeks CIH groups (2IH, 4IH), and in the control group 2 and 4 weeks air-stimulated groups (2C, 4C), with 10 rats in each group. Pathological changes of renal tissue were observed by HE staining, PAS staining, and Masson staining. Read More

    Reversion of gold nanoparticle aggregates for the detection of Cu(2+) and its application in immunoassays.
    Analyst 2017 Nov 9. Epub 2017 Nov 9.
    Institute of Biomedical Engineering, National Taiwan University, Taipei 106, Taiwan. and Institute of Biomedical Electronic and Bioinformatics, National Taiwan University, Taipei 106, Taiwan and Center for Emerging Material and Advanced Devices, National Taiwan University, Taipei 106, Taiwan and Biomedical Technology and Device Research Laboratories, Industrial Technology Research Institute, Hsinchu 300, Taiwan.
    A high concentration of copper is a hazardous element to organisms and human health. Although various strategies have been reported for the sensitive detection of copper, a facile and rapid detection of aqueous copper has seldom been addressed to date. Here, we present an easy and accessible colorimetric method to detect Cu(2+) using the redispersion of cysteamine-modified gold nanoparticles (CA-AuNPs). Read More

    Nursing review of diagnosis and treatment of lumbar degenerative spondylolisthesis.
    Surg Neurol Int 2017 10;8:246. Epub 2017 Oct 10.
    NYU Winthrop Hospital, Mineola, New York, USA.
    Background: In the lumbar spine, degenerative spondylolisthesis or degenerative (not traumatic) slippage of one vertebral body over another is divided into 4 grades - grade I (25%), grade II (50%), grade III (75%), and grade IV (100%). Dynamic X-rays, magnetic resonance (MR), and computed tomography (CT) scans document the slip secondary to arthritic changes of the facet joint plus stenosis, ossification of the yellow ligament, disc herniations, and synovial cysts. MR best demonstrates soft tissue pathology whereas CT better delineates ossific/calcified disease. Read More

    CDK8 Kinase Activity Promotes Glycolysis.
    Cell Rep 2017 Nov;21(6):1495-1506
    Linda Crnic Institute for Down Syndrome, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Pharmacology, School of Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA; Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, Boulder, CO 80309, USA. Electronic address:
    Aerobic glycolysis, also known as the Warburg effect, is a hallmark of cancerous tissues. Despite its importance in cancer development, our understanding of mechanisms driving this form of metabolic reprogramming is incomplete. We report here an analysis of colorectal cancer cells engineered to carry a single point mutation in the active site of the Mediator-associated kinase CDK8, creating hypomorphic alleles sensitive to bulky ATP analogs. Read More

    Correlation and agreement of a digital and conventional method to measure arch parameters.
    J Orofac Orthop 2017 Nov 7. Epub 2017 Nov 7.
    Department of Clinical Oral Biology, Faculty of Dentistry, Universiti Kebangsaan Malaysia, Kuala Lumpur, Malaysia.
    Objective: The aim of the present study was to determine the overall reliability and validity of arch parameters measured digitally compared to conventional measurement.

    Methods: A sample of 111 plaster study models of Down syndrome (DS) patients were digitized using a blue light three-dimensional (3D) scanner. Digital and manual measurements of defined parameters were performed using Geomagic analysis software (Geomagic Studio 2014 software, 3D Systems, Rock Hill, SC, USA) on digital models and with a digital calliper (Tuten, Germany) on plaster study models. Read More

    Reported gum disease as a cardiovascular risk factor in adults with intellectual disabilities.
    J Intellect Disabil Res 2017 Nov 8. Epub 2017 Nov 8.
    Department of Disability and Human Development, University of Illinois at Chicago, Chicago, IL, USA.
    Background: Several risk factors for cardiovascular disease (CVD) have been identified among adults with intellectual disabilities (ID). Periodontitis has been reported to increase the risk of developing a CVD in the general population. Given that individuals with ID have been reported to have a higher prevalence of poor oral health than the general population, the purpose of this study was to determine whether adults with ID with informant reported gum disease present greater reported CVD than those who do not have reported gum disease and whether gum disease can be considered a risk factor for CVD. Read More

    Identification of Splicing Quantitative Trait Loci (sQTL) in Drosophila melanogaster with Developmental Lead (Pb(2+)) Exposure.
    Front Genet 2017 24;8:145. Epub 2017 Oct 24.
    Laboratory of Epigenomics, Department of Pharmacology, C.S. Mott Center for Human Growth and Development, Wayne State University, Detroit, MI, United States.
    Lead (Pb) poisoning has been a major public health issue globally and the recent Flint water crisis has drawn nation-wide attention to its effects. To better understand how lead plays a role as a neurotoxin, we utilized the Drosophila melanogaster model to study the genetic effects of lead exposure during development and identified lead-responsive genes. In our previous studies, we have successfully identified hundreds of lead-responsive expression QTLs (eQTLs) by using RNA-seq analysis on heads collected from the Drosophila Synthetic Population Resource. Read More

    DSCAM-mediated control of dendritic and axonal arbor outgrowth enforces tiling and inhibits synaptic plasticity.
    Proc Natl Acad Sci U S A 2017 Nov 7. Epub 2017 Nov 7.
    Department of Biological Sciences, University of Idaho, Moscow, ID 83844;
    Mature mammalian neurons have a limited ability to extend neurites and make new synaptic connections, but the mechanisms that inhibit such plasticity remain poorly understood. Here, we report that OFF-type retinal bipolar cells in mice are an exception to this rule, as they form new anatomical connections within their tiled dendritic fields well after retinal maturity. The Down syndrome cell-adhesion molecule (Dscam) confines these anatomical rearrangements within the normal tiled fields, as conditional deletion of the gene permits extension of dendrite and axon arbors beyond these borders. Read More

    Inter-Rater Reliability of Provider Interpretations of Irritable Bowel Syndrome Food and Symptom Journals.
    J Clin Med 2017 Nov 4;6(11). Epub 2017 Nov 4.
    Department of Biobehavioral Nursing and Health Informatics, University of Washington, Seattle, WA 98195, USA.
    There are currently no standardized methods for identifying trigger food(s) from irritable bowel syndrome (IBS) food and symptom journals. The primary aim of this study was to assess the inter-rater reliability of providers' interpretations of IBS journals. A second aim was to describe whether these interpretations varied for each patient. Read More

    [Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age].
    Prax Kinderpsychol Kinderpsychiatr 2017 Nov;66(9):672-686
    Institut für Sonderpädagogik Pädagogische Hochschule Heidelberg Keplerstr. 87 69120 Heidelberg Deutschland Institut für Sonderpädagogik - PH Heidelberg.
    Parenting Stress in Mothers of Children with Down Syndrome in Preschool Age Research suggests that parenting stress is elevated in parents of children with intellectual disabilities. However, data are inconsistent if this holds true for parents of children with Down syndrome. As part of the Heidelberg Down syndrome study, 52 mothers of children with Down syndrome (mean age: 5 years) completed the German adaptation of the Parenting Stress Index. Read More

    Has non-invasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
    Prenat Diagn 2017 Nov 7. Epub 2017 Nov 7.
    Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
    Background: Implementation of non-invasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down Syndrome (DS).

    Aim: Investigate the impact of NIPT on termination and live birth rates for DS.

    Methods: Literature reporting pregnancy outcomes following NIPT was reviewed. Read More

    Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination.
    EBioMedicine 2017 Oct 19. Epub 2017 Oct 19.
    Department of Medicine, Central Clinical School, Monash University, Prahran, Victoria 3004, Australia. Electronic address:
    Cell membrane thyroid hormone (TH) transport can be facilitated by the monocarboxylate transporter 8 (MCT8), encoded by the solute carrier family 16 member 2 (SLC16A2) gene. Human mutations of the gene, SLC16A2, result in the X-linked-inherited psychomotor retardation and hypomyelination disorder, Allan-Herndon-Dudley syndrome (AHDS). We posited that abrogating MCT8-dependent TH transport limits oligodendrogenesis and myelination. Read More

    Parenting children with Down syndrome: Societal influences.
    J Child Health Care 2017 Jan 1:1367493517727131. Epub 2017 Jan 1.
    5 Department of Anthropology, University of Amsterdam, Amsterdam, The Netherlands.
    Most studies of parenting children with Down syndrome (DS) have been conducted in industrialized countries. They suggest that sensitive communication on the part of professionals, and social support, can lead to acceptance and positive adjustments in the family. This study examined the impact of a diagnosis of DS on Ecuadorian families, in particular at how the diagnosis had been communicated and received, as well as the feelings and experiences which followed. Read More

    Detection and analysis of apoptosis- and autophagy-related miRNAs of mouse vascular endothelial cells in chronic intermittent hypoxia model.
    Life Sci 2017 Nov 3. Epub 2017 Nov 3.
    Department of Respiratory Disease, The First Affiliated Hospital, Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China; Laboratory of Respiratory Disease of Fujian Medical University, 20 Chazhong Road, Fuzhou 350005, China; Fujian Provincial Sleep-disordered Breathing Clinic Center, China. Electronic address:
    Endothelial dysfunction is the main pathogenic mechanism of cardiovascular complications induced by obstructive sleep apnea/hyponea syndrome (OSAHS). Chronic intermittent hypoxia (CIH) is the primary factor of OSAHS-associated endothelial dysfunction. The hypoxia inducible factor (HIF) pathway regulates the expression of downstream target genes and mediates cell apoptosis caused by CIH-induced endothelial injury. Read More

    Doubling the rate of neurologic development in Down syndrome: a pilot study.
    Issues Law Med 2016 ;31(2):125-137
    Obstetrician/Gynecologist in Private Practice, Los Angeles CA.
    Background: Recently, Von Tetzchner and colleagues completed the first study in three decades of the method of Institutes for the Achievement of Human Potential (IAHP.) They found no benefit. Because Von Tetzchner's study had few patients (17-18), many diagnoses, and numerous (13) different outcome measures, these flaws may have obscured a treatment benefit with excessive variance. Read More

    Fetal Therapy for Down Syndrome: Report of Three Cases and a Review of the Literature.
    Issues Law Med 2017 ;32(1):31-41
    Guadalupe Medical Center, 3020 Wilshire, No. 219, Los Angeles, CA 90010,
    Background: Down syndrome (trisomy 21) is a well-known cause of mental retardation. It can be diagnosed in early pregnancy. Scientists have made great strides in outlining the pathophysiologic mechanisms of mental retardation in Down syndrome. Read More

    Activation of the STING-IRF3 pathway promotes hepatocyte inflammation, apoptosis and induces metabolic disorders in nonalcoholic fatty liver disease.
    Metabolism 2017 Oct 26. Epub 2017 Oct 26.
    Department of Endocrine and Metabolism, Qilu Hospital of Shandong University, Jinan, Shandong, China; Institute of Endocrinology and Metabolism, Shandong University, Jinan, Shandong, China. Electronic address:
    Background: Nonalcoholic fatty liver disease (NAFLD) is a common result of obesity and metabolic syndrome. Hepatocyte injury and metabolic disorders are hallmarks of NAFLD. Stimulator of interferon genes (STING) and its downstream factor interferon regulatory factor 3 (IRF3) trigger inflammatory reaction in response to the presence of cytosolic DNA. Read More

    Clinical variables determining the success of adenotonsillectomy in children with Down syndrome.
    Int J Pediatr Otorhinolaryngol 2017 Nov 20;102:148-153. Epub 2017 Sep 20.
    Department of Otorhinolaryngology, Universidade Federal de São Paulo, Rua Pedro de Toledo 947, 04039-002, São Paulo, SP, Brazil. Electronic address:
    Objectives: To evaluate the evolution of polysomnographic parameters of children with Down syndrome and obstructive sleep apnea syndrome submitted to adenotonsillectomy and the interaction of comorbidities on therapeutic outcome.

    Methods: Ninety patients with Down syndrome and habitual snoring were identified between 2005 and 2015 in a Pediatric Otorhinolaryngology Clinic. Parent's complaints were evaluated by the test of equality of two proportions. Read More

    The Intersection of Intellectual Disability and Dementia: Report of The International Summit on Intellectual Disability and Dementia.
    Gerontologist 2017 Nov 2. Epub 2017 Nov 2.
    Department of Disability and Human Development, University of Illinois at Chicago, Chicago, IL.
    An International Summit on Intellectual Disability and Dementia, held in Glasgow, Scotland (October 13-14, 2016), drew individuals and representatives of numerous international and national organizations and universities with a stake in issues affecting adults with intellectual disability (ID) affected by dementia. A discussion-based consensus process was used to examine and produce a series of topical reports examining three main conceptual areas: (a) human rights and personal resources (applications of the Convention for Rights of People with Disabilities and human rights to societal inclusion, and perspectives of persons with ID), (b) individualized services and clinical supports (advancing and advanced dementia, post-diagnostic supports, community supports and services, dementia-capable care practice, and end-of-life care practices), and (c) advocacy, public impact, family caregiver issues (nomenclature/terminology, inclusion of persons with ID in national plans, and family caregiver issues). Outcomes included recommendations incorporated into a series of publications and topical summary bulletins designed to be international resources, practice guidelines, and the impetus for planning and advocacy with, and on behalf of, people with ID affected by dementia, as well as their families. Read More

    [Effect of Electroacupuncture at "Zusanli" (ST 36) on Vimentin (A Kind of Cytoskeleton Protein Related to Smooth Muscle Contraction) in Rats with Diarrhea-predominant Irritable Bowel Syndrome].
    Zhen Ci Yan Jiu 2017 Oct;42(5):402-6
    College of Acupuncture-moxibustion and Orthopedics-traumatology of Hubei University of Chinese Medicine, Hubei Provincial Collaborative Innovation Center for Preventive Treatment of Illnesses by Acupuncture and Moxibustion, Wuhan 430061, China.
    Objective: To investigate the effect of electroacupuncture (EA) at "Zusanli" (ST 36) on cytoskeleton protein-Vimentin (related to smooth muscle contraction) in rats with diarrhea-predominant irritable bowel syndrome (IBS-D).

    Methods: Sixty female Sprague-Dawley (SD) rats were randomly divided into normal, model, EA and pinaverium bromide (PB) groups (n=15/group). The IBS-D model was established by the method of high lactose feeding and chronic unpredictable mild stress. Read More

    Long-term sequelae in survivors of childhood leukemia with Down syndrome: A childhood cancer survivor study report.
    Cancer 2017 Nov 3. Epub 2017 Nov 3.
    Clinical Biostatistics and Cancer Prevention, Fred Hutchinson Cancer Research Center, Seattle, Washington.
    Background: Children with Down syndrome (DS) are at increased risk of developing acute leukemia and are more prone to acute toxicities. We studied the incidence and severity of chronic health conditions among survivors of childhood leukemia with DS compared with those without DS.

    Methods: Chronic health conditions reported by questionnaire were compared between 154 pediatric leukemia survivors with DS and 581 without DS, matched by leukemia, age at diagnosis, race/ethnicity, sex, radiation location and chemotherapy exposure using Cox models to estimate hazard ratios (HRs) and 95% confidence intervals (CIs). Read More

    Spinal Shortening for Recurrent Tethered Cord Syndrome via a Lateral Retropleural Approach: A Novel Operative Technique.
    Cureus 2017 Aug 31;9(8):e1632. Epub 2017 Aug 31.
    Department of Neurosurgery, University of California, San Diego.
    Spine shortening via vertebral osteotomy (SSVO) for recurrent tethered cord syndrome (TCS) is a novel surgical technique that avoids the complication profile associated with revision detethering. While SSVO has previously been described via a posterior approach, we describe a lateral retropleural approach for SSVO in recurrent TCS in a 21-year-old female. Our patient presented with progressive lower extremity weakness, bowel and bladder incontinence, and back pain in the setting of childhood repair of myelomeningocele and two previous detethering procedures. Read More

    Cell Type-Specific mRNA Dysregulation in Hippocampal CA1 Pyramidal Neurons of the Fragile X Syndrome Mouse Model.
    Front Mol Neurosci 2017 20;10:340. Epub 2017 Oct 20.
    IGF, CNRS, INSERM, Univ. Montpellier, Montpellier, France.
    Fragile X syndrome (FXS) is a genetic disorder due to the silencing of the Fmr1 gene, causing intellectual disability, seizures, hyperactivity, and social anxiety. All these symptoms result from the loss of expression of the RNA binding protein fragile X mental retardation protein (FMRP), which alters the neurodevelopmental program to abnormal wiring of specific circuits. Aberrant mRNAs translation associated with the loss of Fmr1 product is widely suspected to be in part the cause of FXS. Read More

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