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https://www.readbyqxmd.com/read/29145918/baby-sign-but-not-spontaneous-gesture-predicts-later-vocabulary-in-children-with-down-syndrome-corrigendum
#1
Şeyda Özçalişkan, Lauren B Adamson, Nevena Dimitrova, Jhonelle Bailey, Lauren Schmuck
No abstract text is available yet for this article.
November 17, 2017: Journal of Child Language
https://www.readbyqxmd.com/read/29142768/a-rare-double-aneuploidy-case-down-klinefelter
#2
Sevcan Tug Bozdogan, Atil Bisgin
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. A 4-month-old male patient presented with typical clinical features of Down's syndrome with hypothyroidism, atrial septal defect, ventricular septal defect, and patent ductus arteriosus without any phenotypic signs of Klinefelter's syndrome...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29141989/analysis-of-copy-number-variants-on-chromosome-21-in-down-syndrome-associated-congenital-heart-defects
#3
Benjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, Lora J H Bean, Tracie C Rosser, Kenneth J Dooley, Clifford Cua, George Capone, Cheryl L Maslen, Roger H Reeves, Stephanie L Sherman, Michael E Zwick
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...
November 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29140588/family-management-of-childhood-chronic-conditions-does-it-make-a-difference-if-the-child-has-an-intellectual-disability
#4
Marcia Van Riper, George J Knafl, Cecelia Roscigno, Kathleen A Knafl
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...
November 15, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29137441/aberrations-in-circulating-inflammatory-cytokine-levels-in-patients-with-down-syndrome-a-meta-analysis
#5
Yan Zhang, Meng Che, Jing Yuan, Yun Yu, Chang Cao, Xiao-Yan Qin, Yong Cheng
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. Random effects meta-analysis demonstrated that patients with DS had significantly increased circulating tumor necrosis factor-α (Hedges' g = 1...
October 13, 2017: Oncotarget
https://www.readbyqxmd.com/read/29135488/endocrine-manifestations-of-down-syndrome
#6
Rachel Whooten, Jessica Schmitt, Alison Schwartz
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...
November 11, 2017: Current Opinion in Endocrinology, Diabetes, and Obesity
https://www.readbyqxmd.com/read/29133069/relaxin-2-connecting-peptide-pro-rlx2-levels-in-second-trimester-serum-samples-to-predict-preeclampsia
#7
Miriam Rehfeldt, Elizabeth Eklund, Joachim Struck, Andrea Sparwasser, Barbara O'Brien, Glenn E Palomaki, Josef Köhrle, Andreas Bergmann, Geralyn Lambert-Messerlian
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. Cases were identified at a clinic or by hospital codes, and individually confirmed by record review...
November 7, 2017: Pregnancy Hypertension
https://www.readbyqxmd.com/read/29132167/smoldering-development-of-acute-megakaryoblastic-leukemia-with-clonal-evolution-in-an-infant-without-down-syndrome
#8
Eva Schmidt, Ute Fischer, Wolfgang Biskup, Claudia Haferlach, Roland Meisel, Michaela Kuhlen, Arndt Borkhardt
No abstract text is available yet for this article.
November 2017: Klinische Pädiatrie
https://www.readbyqxmd.com/read/29130768/screening-of-six-polymorphisms-related-with-folate-metabolism-in-parents-of-individuals-with-down-syndrome
#9
Marly Balarin, Mariângela Cintra, Fernanda Cordeiro, Lucila Naves, Roseane Silva-Grecco
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. The molecular analysis was performed by Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP) (Reaction Chain Polymerase Restriction Fragment Length Polymorphism) or Polymerase Chain Reaction (PCR)...
November 12, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29130597/co-occurring-medical-conditions-in-adults-with-down-syndrome-a-systematic-review-toward-the-development-of-health-care-guidelines
#10
REVIEW
George T Capone, Brian Chicoine, Peter Bulova, Mary Stephens, Sarah Hart, Blythe Crissman, Andrea Videlefsky, Katherine Myers, Nancy Roizen, Anna Esbensen, Moya Peterson, Stephanie Santoro, Jason Woodward, Barry Martin, David Smith
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. Using the National Library of Medicine (NLM) database PubMed, we first identified 18 peer reviewed articles that addressed co-occurring medical conditions in adults with DS...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29129311/speech-disfluencies-in-children-with-down-syndrome
#11
Kurt Eggers, Sabine Van Eerdenbrugh
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. Therefore, the purpose of this study was to analyze and describe the speech disfluencies of a group, only consisting of children with Down Syndrome between 3 and 13 years of age...
November 8, 2017: Journal of Communication Disorders
https://www.readbyqxmd.com/read/29128905/down-syndrome-ipsc-derived-astrocytes-impair-neuronal-synaptogenesis-and-the-mtor-pathway-in-vitro
#12
Bruno H S Araujo, Carolini Kaid, Janaina S De Souza, Sérgio Gomes da Silva, Ernesto Goulart, Luiz C J Caires, Camila M Musso, Laila B Torres, Adriano Ferrasa, Roberto Herai, Mayana Zatz, Oswaldo K Okamoto, Esper A Cavalheiro
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...
November 11, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/29127498/dynamics-in-prevalence-of-down-syndrome-in-children-with-congenital-heart-disease
#13
Constanze Pfitzer, Paul C Helm, Lisa-Maria Rosenthal, Felix Berger, Ulrike M M Bauer, Katharina Rl Schmitt
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. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014...
November 10, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29127398/overexpression-of-dyrk1a-a-down-syndrome-candidate-gene-impairs-primordial-germ-cells-maintenance-and-migration-in-zebrafish
#14
Yanyan Liu, Ziyuan Lin, Mingfeng Liu, He Wang, Huaqin Sun
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 75.6% similarity and same function domains, suggesting the evolutional conservation. Here, we used zebrafish model to detect the definite role of excessive expression of DYRK1A in PGCs development during embryogenesis...
November 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29126394/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
#15
Caroline Richards, Laurie Powis, Jo Moss, Christopher Stinton, Lisa Nelson, Christopher Oliver
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...
November 10, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/29125674/women-s-preference-for-non-invasive-prenatal-dna-testing-nipt-versus-chromosomal-microarray-after-screening-for-down-syndrome-a-prospective-study
#16
Yvonne Kwun Yue Cheng, Wing Cheong Leung, Tak Yeung Leung, Kwong Wai Choy, Rossa Wai Kwun Chiu, Tsz-Kin Lo, Ka Yin Kwok, Daljit Singh Sahota
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. SAMPLE: Women with term high risk ≥ 1:250 (HR) or intermediate risk 1:251-1:1200 (IR). METHODS: Women screened high risk were asked to decide among 1) an invasive test plus chromosomal microarray (CMA) to obtain more detailed fetal genetic information, 2) a non-invasive cell free prenatal DNA screening (NIPT) to detect trisomies 13, 18 and 21 to avoid procedure related miscarriage, and 3) decline further testing...
November 10, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#17
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
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...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29125116/emerging-roles-of-histidine-triad-nucleotide-binding-protein-1-in-neuropsychiatric-diseases
#18
Yong-Hui Dang, Zhong-Wei Liu, Peng Liu, Jia-Bei Wang
The histidine triad nucleotide binding protein1(HINT1),which belongs to the histidine triad(HIT) enzyme superfamily,exerts its enzymic activities as hydrolase or transferase. Its physiological functions are still unclear. HINT1 protein is expressed in various tissues and plays an important role in transcription and signal transduction. Earlier studies have identified HINT1 as a haplo-insufficient tumor suppressor. Other evidences indicate that HINT1 is involved in a wide variety of physiological processes,some of which are irrelevant with its basic enzymic activities...
October 30, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/29124959/speech-therapy-in-adolescents-with-down-syndrome-in-pursuit-of-communication-as-a-fundamental-human-right
#19
Susan Rvachew, Marla Folden
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...
November 10, 2017: International Journal of Speech-language Pathology
https://www.readbyqxmd.com/read/29124810/environment-learning-from-virtual-exploration-in-individuals-with-down-syndrome-the-role-of-perspective-and-sketch-maps
#20
E Toffalini, C Meneghetti, B Carretti, S Lanfranchi
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. A sketch map of the environment was or was not presented before exploration...
November 9, 2017: Journal of Intellectual Disability Research: JIDR
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