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https://www.readbyqxmd.com/read/28545237/emotion-recognition-in-adolescents-with-down-syndrome-a-nonverbal-approach
#1
Régis Pochon, Claire Touchet, Laure Ibernon
Several studies have reported that persons with Down syndrome (DS) have difficulties recognizing emotions; however, there is insufficient research to prove that a deficit of emotional knowledge exists in DS. The aim of this study was to evaluate the recognition of emotional facial expressions without making use of emotional vocabulary, given the language problems known to be associated with this syndrome. The ability to recognize six emotions was assessed in 24 adolescents with DS. Their performance was compared to that of 24 typically developing children with the same nonverbal-developmental age, as assessed by Raven's Progressive Matrices...
May 23, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#2
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Marie-Pierre Chenard, Ann Barnes
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544488/obstructive-sleep-apnea-in-down-syndrome-benefits-of-surgery-and-noninvasive-respiratory-support
#3
Benjamin Dudoignon, Alessandro Amaddeo, Annick Frapin, Briac Thierry, Livio de Sanctis, Jorge Olmo Arroyo, Sonia Khirani, Brigitte Fauroux
Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28542867/use-of-active-video-gaming-in-children-with-neuromotor-dysfunction-a-systematic-review
#4
REVIEW
Robbin Hickman, Lisa Popescu, Robert Manzanares, Brendan Morris, Szu-Ping Lee, Janet S Dufek
AIM: To examine current evidence on use of active video gaming (AVG) to improve motor function in children with movement disorders including cerebral palsy, developmental coordination disorder, and Down syndrome. METHOD: Scopus, MEDLINE, Cochrane Library, EMBASE, and CINAHL were searched. Included papers studied the use of AVG for improving movement-related outcomes in these populations. Parameters studied included health condition, strength of evidence, AVG delivery methods, capacity for individualizing play, outcomes addressed, effectiveness for achieving outcomes, and challenges/limitations...
May 19, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28542485/a-link-between-thrifty-phenotype-and-maternal-care-across-two-generations-of-intercrossed-mice
#5
Bruno Sauce, Carolina P Goes, Isabela Forti, Bruno Gabriel O do Monte, Isabela M Watanabe, Joao Cunha, Andrea C Peripato
Maternal effects are causal influences from mother to offspring beyond genetic information, and have lifelong consequences for multiple traits. Previously, we reported that mice whose mothers did not nurse properly had low birth weight followed by rapid fat accumulation and disturbed development of some organs. That pattern resembles metabolic syndromes known collectively as the thrifty phenotype, which is believed to be an adaptation to a stressful environment which prepares offspring for reduced nutrient supply...
2017: PloS One
https://www.readbyqxmd.com/read/28541886/bidet-nail-syndrome-report-of-a-typical-case
#6
T Baltazard, S Goettmann
Worn-down nail syndrome is a nail disorder characterized by thinning of the distal nail plate induced by repetitive mechanical trauma. A French variant, entitled "bidet nail syndrome" was first described by Baran.
April 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/28541008/protein-losing-enteropathy-as-a-complication-of-the-ketogenic-diet
#7
Won Kee Ahn, Soyoung Park, Heung Dong Kim
The ketogenic diet is an effective treatment for the patients with intractable epilepsy, however, the diet therapy can sometimes be discontinued by complications. Protein-losing enteropathy is a rarely reported serious complication of the ketogenic diet. We present a 16-month-old Down syndrome baby with protein-losing enteropathy during the ketogenic diet as a treatment for West syndrome. He suffered from diarrhea, general edema and hypoalbuminemia which were not controlled by conservative care for over 1 month...
July 2017: Yonsei Medical Journal
https://www.readbyqxmd.com/read/28540658/overexpression-of-the-dyrk1a-gene-dual-specificity-tyrosine-phosphorylation-regulated-kinase-1a-induces-alterations-of-the-serotoninergic-and-dopaminergic-processing-in-murine-brain-tissues
#8
Jacqueline London, Claude Rouch, Linh Chi Bui, Elodie Assayag, Benoit Souchet, Fabrice Daubigney, Hind Medjaoui, Serge Luquet, Christophe Magnan, Jean Maurice Delabar, Julien Dairou, Nathalie Janel
Trisomy 21 (T21) or Down syndrome (DS) is the most common genetic disorder associated with intellectual disability and affects around 5 million persons worldwide. Neuroanatomical phenotypes associated with T21 include slight reduction of brain size and weight, abnormalities in several brain areas including spines dysgenesis, dendritic morphogenesis, and early neuroanatomical characteristics of Alzheimer's disease. Monoamine neurotransmitters are involved in dendrites development, functioning of synapses, memory consolidation, and their levels measured in the cerebrospinal fluid, blood, or brain areas that are modified in individuals with T21...
May 25, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28540023/outcomes-of-cataract-surgery-in-children-with-down-syndrome
#9
Murtaza Saifee, Lingkun Kong, Kimberly Guo Yen
No abstract text is available yet for this article.
April 2017: Journal of Ophthalmic & Vision Research
https://www.readbyqxmd.com/read/28538662/maternal-factors-that-induce-epigenetic-changes-contribute-to-neurological-disorders-in-offspring
#10
REVIEW
Avijit Banik, Deepika Kandilya, Seshadri Ramya, Walter Stünkel, Yap Seng Chong, S Thameem Dheen
It is well established that the regulation of epigenetic factors, including chromatic reorganization, histone modifications, DNA methylation, and miRNA regulation, is critical for the normal development and functioning of the human brain. There are a number of maternal factors influencing epigenetic pathways such as lifestyle, including diet, alcohol consumption, and smoking, as well as age and infections (viral or bacterial). Genetic and metabolic alterations such as obesity, gestational diabetes mellitus (GDM), and thyroidism alter epigenetic mechanisms, thereby contributing to neurodevelopmental disorders (NDs) such as embryonic neural tube defects (NTDs), autism, Down's syndrome, Rett syndrome, and later onset of neuropsychological deficits...
May 24, 2017: Genes
https://www.readbyqxmd.com/read/28538341/physical-activity-patterns-in-infants-with-and-without-down-syndrome
#11
Leah Ketcheson, E Andrew Pitchford, Hyun-Jin Kwon, Dale A Ulrich
PURPOSE: Individuals with Down syndrome (DS) are at greater risk for obesity than their peers who are developing typically. One factor contributing to an early onset of obesity is low levels of physical activity (PA). However, there is little known regarding PA patterns during infancy. METHODS: The purpose of this study was to examine the daily PA patterns in 22 infants developing typically and 11 infants with Down syndrome (aged 1-12 months) using Actigraph GT3X+ (wrist and ankle)...
May 19, 2017: Pediatric Physical Therapy
https://www.readbyqxmd.com/read/28536925/parental-perspectives-on-pharmacological-clinical-trials-a-qualitative-study-in-down-syndrome-and-fragile-x-syndrome
#12
Victoria Reines, Krista Charen, Tracie Rosser, Arri Eisen, Stephanie L Sherman, Jeannie Visootsak
Research studies focusing on parents' perspectives of pharmacological clinical trials have not kept pace with the number of emerging pharmacologic clinical trials in Down syndrome (DS) and Fragile X syndrome (FXS). Since individuals with DS or FXS have limited cognitive ability to make decisions about their participation in clinical trials, it is important to consider the parents' perspectives and explore the ways in which decisions are made for their children. Using a semi-structured interview, we enrolled 9 parents of a child(ren) with FXS and 15 with a child with DS to analyze their views, experiences, and knowledge of pharmacological clinical trials...
May 24, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28535820/predicted-body-weight-relationships-for-protective-ventilation-unisex-proposals-from-pre-term-through-to-adult
#13
Dion C Martin, Glenn N Richards
BACKGROUND: The lung-protective ventilation bundle has been shown to reduce mortality in adult acute respiratory distress syndrome (ARDS). This concept has expanded to other areas of acute adult ventilation and is recommended for pediatric ventilation. A component of lung-protective ventilation relies on a prediction of lean body weight from height. The predicted body weight (PBW) relationship employed in the ARDS Network trial is considered valid only for adults, with a dedicated formula required for each sex...
May 23, 2017: BMC Pulmonary Medicine
https://www.readbyqxmd.com/read/28535762/gait-initiation-and-termination-strategies-in-patients-with-prader-willi-syndrome
#14
Veronica Cimolin, Nicola Cau, Manuela Galli, Cristina Santovito, Graziano Grugni, Paolo Capodaglio
BACKGROUND: Gait Initiation (GI) is a functional task representing one of the first voluntary destabilizing behaviours observed in the development of a locomotor pattern as the whole body centre of mass transitions from a large to a small base of support. Conversely, Gait Termination (GT) consists in the transition from walking to standing which, in everyday life, is a very common movement. Compared to normal walking, it requires higher control of postural stability. For a safe GT, the forward movement of the body has to be slowed down to achieve a stable upright position...
May 23, 2017: Journal of Neuroengineering and Rehabilitation
https://www.readbyqxmd.com/read/28535411/the-effectiveness-of-the-computerized-visual-perceptual-training-program-on-individuals-with-down-syndrome-an-fmri-study
#15
Yi-Ting Wan, Ching-Sui Chiang, Sharon Chia-Ju Chen, Yee-Pay Wuang
This study investigated the effectiveness of the Computerized Visual Perception Training (CVPT) program on individuals with Down syndrome (DS, mean age=13.17±4.35years, age range: 6.54-20.75 years). All participants have mild intellectual disability classified by the standard IQ measures (mean=61.2, ranges from 55 to 68). Both the Test of Visual Perceptual Skill- Third Edition (TVPS-3) and functional magnetic resonance imaging (fMRI) were used to evaluate the training outcomes. Results of TVPS-3 and fMRI showed that DS group had visual perceptual deficits and abnormal neural networks related to visual organization...
May 20, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28535204/colocalization-of-receptors-for-shiga-toxins-with-lipid-rafts-in-primary-human-renal-glomerular-endothelial-cells-and-influence-of-d-pdmp-on-synthesis-and-distribution-of-glycosphingolipid-receptors
#16
Nadine Legros, Gottfried Pohlentz, Jana Runde, Stefanie Dusny, Hans-Ulrich Humpf, Helge Karch, Johannes Müthing
Damage of human renal glomerular endothelial cells (HRGECs) of the kidney represents the linchpin in the pathogenesis of the hemolytic uremic syndrome (HUS) caused by Shiga toxins (Stxs) of enterohemorrhagic Escherichia coli (EHEC). We performed a comprehensive structural analysis of the Stx receptor glycosphingolipids (GSLs) globotriaosylceramide (Gb3Cer, Galα4alβ4Glcβ1Cer) and globotetraosylceramide (Gb4Cer, GalNAcβ3Galα4Galβ4Glcβ1Cer) and their distribution in lipid raft analogue detergent-resistant membranes (DRMs) and nonDRMs prepared from primary HRGECs...
May 23, 2017: Glycobiology
https://www.readbyqxmd.com/read/28531845/artesunate-and-erythropoietin-synergistically-improve-the-outcome-of-experimental-cerebral-malaria
#17
Yunting Du, Guang Chen, Xuexing Zhang, Chunyun Yu, Yaming Cao, Liwang Cui
Cerebral malaria (CM) is a severe neurological syndrome in humans and the main fatal cause of malaria. In malaria epidemic regions, despite appropriate anti-malarial treatment, 10-20% of deaths still occur during the acute phase. This is largely attributable to poor treatment access, therapeutic complexity and drug resistance; thus, developing additional clinical adjunctive therapies is an urgent necessity. In this study, we investigated the effect of artesunate (AST) and recombinant human erythropoietin (rhEPO) using an experimental cerebral malaria (ECM) model-C57BL/6 mice infected with Plasmodium berghei ANKA (PbA)...
May 19, 2017: International Immunopharmacology
https://www.readbyqxmd.com/read/28530321/-the-effect-of-down-syndrome-on-teeth-and-jaws-development-the-first-case-report-on-dental-implants-with-15-years-follow-up
#18
Uri Zilberman
Down syndrome presents dentists with several treatment problems due to hereditary olygodontia of permanent teeth, abnormal development of the midface causing small maxilla and class III occlusion, abnormal mineralization of teeth, reduced bone density and hypotony. The challenge of replacing missing permanent teeth was the trigger for the development of dental implants some 30 years ago. However, the abnormal development of jaw bones and the reverse occlusion caused concerns in the dental community regarding the possibility of using dental implants in Down syndrome patients...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28528714/the-use-of-stomas-in-the-early-management-of-hirschsprung-s-disease-findings-of-a-national-prospective-cohort-study
#19
T J Bradnock, M Knight, S Kenny, M Nair, G M Walker
BACKGROUND/PURPOSE: Primary pull-through without a stoma has become preferred practice in managing Hirschsprung's disease (HD). The aims of this study were to establish stoma rate and identify factors associated with stoma formation in a population-based cohort in the UK and Ireland. METHODS: Live-born infants with HD were prospectively identified in all 28 specialist pediatric surgical units in the UK and Ireland between October 2010 to September 2012. Method of colonic decompression was recorded and multivariable logistic regression was used to identify factors associated with stoma formation...
May 11, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28526339/magnesium-isoglycyrrhizinate-blocks-fructose-induced-hepatic-nf-%C3%AE%C2%BAb-nlrp3-inflammasome-activation-and-lipid-metabolism-disorder
#20
Xiao-Juan Zhao, Yan-Zi Yang, Yan-Jing Zheng, Shan-Chun Wang, Hong-Mei Gu, Ying Pan, Shui-Juan Wang, Hong-Jiang Xu, Ling-Dong Kong
Magnesium isoglycyrrhizinate as a hepatoprotective agent possesses immune modulation and anti-inflammation, and treats liver diseases. But its effects on immunological-inflammatory and metabolic profiles for metabolic syndrome with liver injury and underlying potential mechanisms are not fully understood. In this study, magnesium isoglycyrrhizinate alleviated liver inflammation and lipid accumulation in fructose-fed rats with metabolic syndrome. It also suppressed hepatic inflammatory signaling activation by reducing protein levels of phosphorylation of nuclear factor-kappa B p65 (p-NF-κB p65), inhibitor of nuclear factor kappa-B kinase α/β (p-IKKα/β) and inhibitor of NF-κB α (p-IκBα) as well as nucleotide-binding domain (NOD)-like receptor protein 3 (NLRP3), apoptosis-associated speck-like protein (ASC) and Caspase-1 in rats, being consistent with its reduction of interleukin-1β (IL-1β), tumor necrosis factor-α (TNF-α) and IL-6 levels...
May 16, 2017: European Journal of Pharmacology
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