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https://www.readbyqxmd.com/read/28453864/impact-on-spina-bifida-screening-of-shifting-prenatal-down-syndrome-maternal-serum-screening-from-the-second-trimester-to-the-first
#1
Emmanuel Spaggiari, Sophie Dreux, Julien J Stirnemann, Isabelle Czerkiewicz, Véronique Houfflin-Debarge, Alexandra Segonne, Jean-Marie Jouannic, Yves Ville, Francoise Muller
OBJECTIVES: Shifting screening for trisomy 21 to the first trimester has resulted in the loss of MSAFP screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. STUDY DESIGN: We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and "not performed")...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28453662/mglur5-tunes-ngf-trka-signaling-to-orient-spiny-stellate-neuron-dendrites-toward-thalamocortical-axons-during-whisker-barrel-map-formation
#2
Jui-Yen Huang, Hui-Chen Lu
Neurons receive and integrate synaptic inputs at their dendrites, thus dendritic patterning shapes neural connectivity and behavior. Aberrant dendritogenesis is present in neurodevelopmental disorders such as Down's syndrome and autism. Abnormal glutamatergic signaling has been observed in these diseases, as has dysfunction of the metabotropic glutamate receptor 5 (mGluR5). Deleting mGluR5 in cortical glutamatergic neurons disrupted their coordinated dendritic outgrowth toward thalamocortical axons and perturbed somatosensory circuits...
April 27, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28453471/a-randomized-double-blind-placebo-controlled-phase-ii-study-of-oral-elnd005-scyllo-inositol-in-young-adults-with-down-syndrome-without-dementia
#3
Michael S Rafii, Brian G Skotko, Mary Ellen McDonough, Margaret Pulsifer, Casey Evans, Eric Doran, Gabriela Muranevici, Patrick Kesslak, Susan Abushakra, Ira T Lott
BACKGROUND: ELND005 (scyllo-Inositol; cyclohexane-1,2,3,4,5,6-hexol) has been evaluated as a potential disease-modifying treatment for Alzheimer's disease (AD). Individuals with Down syndrome (DS) have an increased risk for developing AD dementia. OBJECTIVE: To evaluate the safety and tolerability of ELND005 and to determine its pharmacokinetics (PK) and relationship between PK parameters, safety outcome measures, and exploratory efficacy outcome measures in young adults with DS without dementia...
April 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28445808/treatment-results-in-children-with-myeloid-leukemia-of-down-syndrome-in-saudi-arabia-a-multicenter-saphos-leukemia-group-study
#4
Wasil Jastaniah, Abdulrahman Alsultan, Saad Al Daama, Walid Ballourah, Mohammad Bayoumy, Faisal Al-Anzi, Omar Al Shareef, Mohammed Burhan Abrar, Reem Al Sudairy, Ibrahim Al Ghemlas
Despite the high incidence of Down syndrome (DS) in Arab countires, the incidence and outcomes of myeloid leukemia of DS (ML-DS) have not been studied. We evaluated 206 pediatric acute myeloid leukemia (AML) patients diagnosed between 2005 and 2012 and identified 31 (15%) ML-DS. The incidence of ML-DS was 48 per 100,000 compared to 0.6 per 100,000 for AML in non-DS children. Thus, patients with DS had 80-fold increased risk of ML-DS compared to AML in non-DS children. The median age at diagnosis was 1.8 years, male/female ratio was 1...
April 12, 2017: Leukemia Research
https://www.readbyqxmd.com/read/28443951/bariatric-surgery-in-individuals-with-severe-cognitive-impairment-report-of-two-cases
#5
Everton Cazzo, Martinho Antonio Gestic, Murillo Pimentel Utrini, Felipe David Mendonça Chaim, Elaine Cristina Cândido, Luciana Bueno da Silveira Jarolavsky, Ana Maria Neder de Almeida, José Carlos Pareja, Elinton Adami Chaim
CONTEXT: Bariatric surgery has become the gold-standard treatment for refractory morbid obesity. Obesity is frequently associated with certain syndromes that include coexisting cognitive deficits. However, the outcomes from bariatric surgery in this group of individuals remain incompletely determined. CASE REPORT: A 25-year-old male with Prader-Willi syndrome, whose intelligence quotient (IQ) was 54, was admitted with a body mass index (BMI) of 55 kg/m2, associated with glucose intolerance...
April 20, 2017: São Paulo Medical Journal, Revista Paulista de Medicina
https://www.readbyqxmd.com/read/28438318/the-affinities-of-homo-floresiensis-based-on-phylogenetic-analyses-of%C3%A2-cranial-dental-and-postcranial-characters
#6
Debbie Argue, Colin P Groves, Michael S Y Lee, William L Jungers
Although the diminutive Homo floresiensis has been known for a decade, its phylogenetic status remains highly contentious. A broad range of potential explanations for the evolution of this species has been explored. One view is that H. floresiensis is derived from Asian Homo erectus that arrived on Flores and subsequently evolved a smaller body size, perhaps to survive the constrained resources they faced in a new island environment. Fossil remains of H. erectus, well known from Java, have not yet been discovered on Flores...
April 19, 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28436632/-localization-of-gestational-age-reference-table-and-its-application-in-prenatal-screening
#7
Linlin Dou, Guohui Yang, Weiming Mo
Objective: To establish a fetal biparietal diameter (BPD)-gestational age formula based on the data of pregnant women from Xiaoshan District of Hangzhou, and to evaluate its application in prenatal screening. Methods: Data of 3500 pregnant women with gestational age between 15 weeks and 19 weeks+6 receiving prenatal screening in Xiaoshan Hospital during May 2014 and May 2015 were collected. BPDs were used to establish a localized BPD-gestational age formula. The localized formula was used to evaluate the prenatal screening risks in 1759 pregnant women with irregular menstrual cycles or uncertain last menstrual period (LMP) in Xiaoshan District, and the results were compared with those calculated using formula in LifeCycle 4...
January 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28435357/effectiveness-of-audiovisual-distraction-with-computerized-delivery-of-anesthesia-during-the-placement-of-stainless-steel-crowns-in-children-with-down-syndrome
#8
Kausar Sadia Fakhruddin, Hisham El Batawi, M O Gorduysus
OBJECTIVE: Assessing effectiveness of audiovisual (AV) distraction with/without video eyewear and computerized delivery system-intrasulcular (CDS-IS) for local anesthesia during placement of stainless steel crowns for the management of pathological tooth grinding in children with Down syndrome. MATERIALS AND METHODS: This clinical study includes 22 children (13 boys and 9 girls), with mean age being 7.1 years. The study involved three sessions 1-week apart. During Session I, dental prophylaxis to the upper jaw was done while watching a movie projected on the ceiling without video eyewear whereas prophylaxis for the lower jaw and impressions of both jaws were taken while watching another movie using eyewear projection...
January 2017: European Journal of Dentistry
https://www.readbyqxmd.com/read/28434272/wideband-acoustic-immittance-in-children-with-down-syndrome-prediction-of-middle-ear-dysfunction-conductive-hearing-loss-and-patent-pe-tubes
#9
Lisa L Hunter, Douglas H Keefe, M Patrick Feeney, David K Brown, Jareen Meinzen-Derr, Alaaeldin M Elsayed, Julia M Amann, Vairavan Manickam, Denis Fitzpatrick, Sally R Shott
OBJECTIVE: The purpose of this study was to evaluate pressurised wideband acoustic immittance (WAI) tests in children with Down syndrome (DS) and in typically developing children (TD) for prediction of conductive hearing loss (CHL) and patency of pressure equalising tubes (PETs). DESIGN: Audiologic diagnosis was determined by audiometry in combination with distortion-product otoacoustic emissions, 0.226 kHz tympanometry and otoscopy. WAI results were compared for ears within diagnostic categories (Normal, CHL and PET) and between groups (TD and DS)...
April 22, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28433791/employment-and-choice-making-for-adults-with-intellectual-disability-autism-and-down-syndrome
#10
Kelsey L Bush, Marc J Tassé
BACKGROUND: Adults with disabilities are employed at a significantly lower rate than adults without disabilities. Of adults with disabilities in the workforce, more individuals work in a facility setting rather than a community setting, despite efforts to improve community inclusion. Choice-making has been proposed as a predictive factor for employment for individuals with disabilities. AIMS: The purpose of this research was to examine the current state of employment for three groups of adults with intellectual disability (ID): individuals with autism spectrum disorder (ASD), individuals with Down syndrome (DS), and individuals with idiopathic ID...
April 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28431488/core-vocabulary-of-young-children-with-down-syndrome
#11
Stijn R J M Deckers, Yvonne Van Zaalen, Hans Van Balkom, Ludo Verhoeven
The aim of this study was to develop a core vocabulary list for young children with intellectual disabilities between 2 and 7 years of age because data from this population are lacking in core vocabulary literature. Children with Down syndrome are considered one of the most valid reference groups for researching developmental patterns in children with intellectual disabilities; therefore, spontaneous language samples of 30 Dutch children with Down syndrome were collected during three different activities with multiple communication partners (free play with parents, lunch- or snack-time at home or at school, and speech therapy sessions)...
June 2017: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/28430800/the-burden-of-trisomy-21-disrupts-the-proteostasis-network-in-down-syndrome
#12
Stefanos Aivazidis, Christina M Coughlan, Abhishek K Rauniyar, Hua Jiang, L Alexander Liggett, Kenneth N Maclean, James R Roede
Down syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21. Abnormalities in chromosome number have the potential to lead to disruption of the proteostasis network (PN) and accumulation of misfolded proteins. DS individuals suffer from several comorbidities, and we hypothesized that disruption of proteostasis could contribute to the observed pathology and decreased cell viability in DS. Our results confirm the presence of a disrupted PN in DS, as several of its elements, including the unfolded protein response, chaperone system, and proteasomal degradation exhibited significant alterations compared to euploid controls in both cell and mouse models...
2017: PloS One
https://www.readbyqxmd.com/read/28430122/a-comprehensive-diverse-omics-approach-to-better-understanding-the-molecular-pathomechanisms-of-down-syndrome
#13
REVIEW
Keiichi Ishihara, Satoshi Akiba
Diverse '-omics' technologies permit the comprehensive quantitative profiling of a variety of biological molecules. Comparative '-omics' analyses, such as transcriptomics and proteomics, are powerful and useful tools for unraveling the molecular pathomechanisms of various diseases. As enhanced oxidative stress has been demonstrated in humans and mice with Down syndrome (DS), a redox proteomic analysis is useful for understanding how enhanced oxidative stress aggravates the state of individuals with oxidative stress-related disorders...
April 21, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28429561/cfdna-screening-performance-accounting-for-and-reducing-test-failures
#14
EDITORIAL
H Cuckle
Over several decades antenatal screening for Down's syndrome steadily evolved from the initial concept of a single second trimester maternal serum marker to complex protocols involving the combination of multiple serum and fetal ultrasound markers, determined within-trimester or sequentially across-trimesters.
April 21, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28424993/performing-corneal-crosslinking-under-local-anaesthesia-in-patients-with-down-syndrome
#15
Nienke Soeters, Esmée Bennen, Robert P L Wisse
PURPOSE: To report on the ability to perform corneal crosslinking (CXL) under local anaesthesia for the treatment of keratoconus in patients with Down syndrome. METHODS: Nine eyes of seven patients with both keratoconus and Down syndrome were scheduled for an epithelium-off CXL procedure under local anaesthesia. Exclusion criteria were a corneal thickness under 400 µm and the presence of corneal scars. A standardized clinical decision tool was used to estimate patient cooperation and the likelihood for a successful procedure under local rather than general anaesthesia...
April 19, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28422987/systematic-review-and-meta-analysis-shows-a-specific-micronutrient-profile-in-people-with-down-syndrome-lower-blood-calcium-selenium-and-zinc-higher-red-blood-cell-copper-and-zinc-and-higher-salivary-calcium-and-sodium
#16
REVIEW
Amene Saghazadeh, Maryam Mahmoudi, Atefeh Dehghani Ashkezari, Nooshin Oliaie Rezaie, Nima Rezaei
Different metabolic profiles as well as comorbidities are common in people with Down Syndrome (DS). Therefore it is relevant to know whether micronutrient levels in people with DS are also different. This systematic review was designed to review the literature on micronutrient levels in people with DS compared to age and sex-matched controls without DS. We identified sixty nine studies from January 1967 to April 2016 through main electronic medical databases PubMed, Scopus, and Web of knowledge. We carried out meta-analysis of the data on four essential trace elements (Cu, Fe, Se, and Zn), six minerals (Ca, Cl, K, Mg, Na, and P), and five vitamins (vitamin A, B9, B12, D, and E)...
2017: PloS One
https://www.readbyqxmd.com/read/28421701/corrigendum-to-having-a-son-or-daughter-with-down-syndrome-perspectives-from-mothers-and-fathers-am-j-med-genet-part-a-155-2335-2347
#17
Brian G Skotko, Susan P Levine, Richard Goldstein
No abstract text is available yet for this article.
May 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28421145/a-framework-for-describing-the-influence-of-service-organisation-and-delivery-on-participation-in-fetal-anomaly-screening-in-england
#18
Hyacinth O Ukuhor, Janet Hirst, S José Closs, William J Montelpare
Objective. The aim of this research was to explore the influence of service organisation and delivery on providers and users' interactions and decision-making in the context of Down's syndrome screening. Methods. A qualitative descriptive study involving online interviews conducted with a purposive sample of 34 community midwives, 35 pregnant women, and 15 partners from two maternity services in different health districts in England. Data were analysed using a combination of grounded theory principles and content analysis and a framework was developed...
2017: Journal of Pregnancy
https://www.readbyqxmd.com/read/28420527/corrigendum-to-first-trimester-combined-test-for-down-syndrome-screening-in-unselected-pregnancies-a-report-of-a-13-year-experience-taiwan-j-obstet-gynecol-52-4-2013-523-526
#19
Fa-Kung Lee, Li-Ching Chen, Mei-Leng Cheong, Ching-Yu Chou, Ming-Song Tsai
No abstract text is available yet for this article.
April 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28420439/fragile-x-syndrome-a-review-of-clinical-and-molecular-diagnoses
#20
REVIEW
Claudia Ciaccio, Laura Fontana, Donatella Milani, Silvia Tabano, Monica Miozzo, Susanna Esposito
BACKGROUND: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS...
April 19, 2017: Italian Journal of Pediatrics
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