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https://www.readbyqxmd.com/read/29777603/-communication-of-the-diagnosis-of-down-syndrome-mother-s-stories
#1
Teresa Vargas Aldecoa, José Luis Martin Conty, Rosa María Conty Serrano, Cristina Fernández Pérez
The article studies the way in which health professionals communicate the diagnosis of Down syndrome to parents. For that the personal stories of the mothers collected in the answers given by them to the open questions of a questionnaire on ″communication of the diagnosis″ are analyzed. The results show the mothers' dissatisfaction with the information received during the prenatal and postnatal diagnosis of Down síndrome.
May 2018: Cuadernos de Bioética: Revista Oficial de la Asociación Española de Bioética y Ética Médica
https://www.readbyqxmd.com/read/29776964/arrhythmias-in-adult-patients-with-congenital-heart-disease-and-pulmonary-arterial-hypertension
#2
Maria Drakopoulou, Heba Nashat, Aleksander Kempny, Rafael Alonso-Gonzalez, Lorna Swan, Stephen J Wort, Laura C Price, Colm McCabe, Tom Wong, Michael A Gatzoulis, Sabine Ernst, Konstantinos Dimopoulos
OBJECTIVES: Approximately 5%-10% of adults with congenital heart disease (CHD) develop pulmonary arterial hypertension (PAH), which affects life expectancy and quality of life. Arrhythmias are common among these patients, but their incidence and impact on outcome remains uncertain. METHODS: All adult patients with PAH associated with CHD (PAH-CHD) seen in a tertiary centre between 2007 and 2015 were followed for new-onset atrial or ventricular arrhythmia. Clinical variables associated with arrhythmia and their relation to mortality were assessed using Cox analysis...
May 18, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29775740/eriocheir-sinensis-microrna-7-targets-crab-myd88-to-enhance-white-spot-syndrome-virus-replication
#3
Ying Huang, Wen Wang, Zhiqiang Xu, Jianlin Pan, Zhe Zhao, Qian Ren
MicroRNAs (miRNAs) are non-coding RNAs that regulate gene expression at the posttranscriptional level. In this study, the function of microRNA-7 (miR-7) in host-virus interaction was investigated. Replication of White spot syndrome virus (WSSV) was enhanced with the overexpression of miR-7 and inhibited with the downregulation of miR-7 by using anti-miRNA oligonucleotide AMO-miR-7. The target gene of miR-7 was predicted using bioinformatics methods. Results showed that crab myeloid differentiation factor 88 (Myd88) could be targeted by miR-7...
May 15, 2018: Fish & Shellfish Immunology
https://www.readbyqxmd.com/read/29774549/extracorporeal-membrane-oxygenation-characteristics-and-outcomes-in-adult-patients-with-down-syndrome
#4
Vicky Duffy, Daniel Gomez, Peter Rycus, Brian Rivera, Stephanie L Santoro, Carl H Backes, Clifford L Cua
Patients with Down syndrome (DS) may have multiple medical issues that place them at risk for requiring extracorporeal membrane oxygenation. Use of extracorporeal membrane oxygenation in pediatric patients with Down syndrome has been described, but minimal data exist for extracorporeal membrane oxygenation use in adults with Down syndrome. The goal of this study was to describe the clinical characteristics and to determine if there were differences between adult extracorporeal membrane oxygenation patients with Down syndrome that were alive (aDS) versus those that died (dDS) prior to hospital discharge...
May 17, 2018: Artificial Organs
https://www.readbyqxmd.com/read/29774174/outpatient-interventions-that-may-enhance-the-care-of-a-patient-with-co-existing-moyamoya-and-down-syndromes
#5
Anita Lwanga, Waldo Herrera, Katya Cruz Madrid, Antony Irungu
Moyamoya vasculopathy is a condition of chronic, progressive occlusion of the distal internal carotid arteries and the Circle of Willis. The resultant ischemia produces compensatory angiogenesis and the growth of a network of collateral blood vessels, which on angiography resemble a "puff of smoke" or "moyamoya" in Japanese. The objective of this case report is to describe the clinical course of a patient with Down and moyamoya syndromes and to enlighten clinicians about strategies that can be taken to enhance the care of similar patients...
March 16, 2018: Curēus
https://www.readbyqxmd.com/read/29772935/the-effects-of-literacy-interventions-on-single-word-reading-for-individuals-who-use-aided-aac-a-systematic-review
#6
Kelsey Mandak, Janice Light, Susannah Boyle
The purpose of this systematic review was to investigate the effects of instruction on single-word reading of individuals who use aided augmentative and alternative communication (AAC). A systematic search identified nine single-case experimental design studies that involved 24 individuals who used aided AAC. Overall, the evidence indicated that instruction had positive effects on reading at the single-word level for individuals across ages and diagnostic categories (i.e., autism spectrum disorder (ASD), cerebral palsy (CP), Down syndrome, and intellectual disability)...
May 18, 2018: Augmentative and Alternative Communication: AAC
https://www.readbyqxmd.com/read/29771335/loss-of-fragile-x-protein-fmrp-impairs-homeostatic-synaptic-downscaling-through-tumor-suppressor-p53-and-ubiquitin-e3-ligase-nedd4-2
#7
Kwan Young Lee, Kathryn A Jewett, Hee Jung Chung, Nien-Pei Tsai
Synaptic scaling allows neurons to homeostatically readjust synaptic strength upon chronic neural activity perturbations. Although altered synaptic scaling has been implicated to underlie imbalanced brain excitability in neurological disorders such as autism spectrum disorders and epilepsy, the molecular dysregulation and restoration of synaptic scaling in those diseases have not been demonstrated. Here, we showed that the homeostatic synaptic downscaling is absent in the hippocampal neurons of Fmr1 KO mice, the mouse model of the most common inherited autism, Fragile X Syndrome (FXS)...
May 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29770843/patterns-and-severity-of-vascular-amyloid-in-alzheimer-s-disease-associated-with-duplications-and-missense-mutations-in-app-gene-down-syndrome-and-sporadic-alzheimer-s-disease
#8
David M A Mann, Yvonne S Davidson, Andrew C Robinson, Nancy Allen, Tadafumi Hashimoto, Anna Richardson, Matthew Jones, Julie S Snowden, Neil Pendleton, Marie-Claude Potier, Annie Laquerrière, Vee Prasher, Takeshi Iwatsubo, Andre Strydom
In this study, we have compared the severity of amyloid plaque formation and cerebral amyloid angiopathy (CAA), and the subtype pattern of CAA pathology itself, between APP genetic causes of AD (APPdup, APP mutations), older individuals with Down syndrome (DS) showing the pathology of Alzheimer's disease (AD) and individuals with sporadic (early and late onset) AD (sEOAD and sLOAD, respectively). The aim of this was to elucidate important group differences and to provide mechanistic insights related to clinical and neuropathological phenotypes...
May 16, 2018: Acta Neuropathologica
https://www.readbyqxmd.com/read/29770797/correlation-of-the-predisposition-of-chinese-children-to-cerebral-palsy-with-nucleotide-variation-in-pri-mir-124-that-alters-the-non-canonical-apoptosis-pathway
#9
Hui Li, Xiu-Li Wang, Yan-Qiu Wu, Xiu-Mei Liu, Ai-Min Li
Cerebral palsy is a group of non-progressive motor impairment syndromes caused by brain lesions during development. Herein, we investigated the relationship between nucleotide variations in a miRNA coding region and the predisposition of Chinese children to cerebral palsy. A total of 233 CP patients and 256 healthy participants were enrolled, and 60 children were selected from each group for plasma miRNA detection. We screened the coding regions of pri-miR-124-1, -2, and -3 using PCR and sequencing. The expression of miR-124 was determined by qRT-PCR...
May 17, 2018: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/29768655/let-7e-inhibits-tnf-%C3%AE-expression-by-targeting-the-methyl-transferase-ezh2-in-denv2-infected-thp-1-cells
#10
Yingke Zhang, Qianqian Zhang, Lian Gui, Yan Cai, Xiaohong Deng, Cheukfai Li, Qi Guo, Xiaoshun He, Junqi Huang
Tumor necrosis factor α (TNFα), an important inflammatory cytokine, is associated with dengue hemorrhagic fever/dengue shock syndrome (DHF/DSS), a severe pathological manifestation of dengue virus (DENV) infection. However, the regulatory mechanism of microRNA on TNFα is currently unknown. Our study showed that the TNFα expression increased immediately and then later decreased, while a marked increase for the miRNA let-7e was detected in dengue virus type 2 (DENV2)-infected peripheral blood mononuclear cells (PBMCs)...
May 16, 2018: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29767723/isca1-mutation-in-a-patient-with-infantile-onset-leukodystrophy-causes-defects-in-mitochondrial-4fe-4s-proteins
#11
Alessandra Torraco, Oliver Stehling, Claudia Stümpfig, Ralf Rösser, Domenico De Rasmo, Giuseppe Fiermonte, Daniela Verrigni, Teresa Rizza, Angelo Vozza, Michela Di Nottia, Daria Diodato, Diego Martinelli, Fiorella Piemonte, Carlo Dionisi-Vici, Enrico Bertini, Roland Lill, Rosalba Carrozzo
Multiple Mitochondrial Dysfunction Syndromes (MMDS) comprise a group of severe autosomal recessive diseases characterized by impaired respiration and lipoic acid metabolism, resulting in infantile-onset mitochondrial encephalopathy, non-ketotic hyperglycinemia, myopathy, lactic acidosis and early death. Four different MMDS have been analyzed in detail according to the genes involved in the disease, MMDS1 (NFU1), MMDS2 (BOLA3), MMDS3 (IBA57), and MMDS4 (ISCA2). MMDS5 has recently been described in a clinical case report of patients carrying a mutation in ISCA1, but with no further functional analysis...
May 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29762500/circulating-micrornas-in-young-patients-with-acute-coronary-syndrome
#12
Kind-Leng Tong, Ahmad Syadi Mahmood Zuhdi, Wan Azman Wan Ahmad, Paul M Vanhoutte, Joao Pedro de Magalhaes, Mohd Rais Mustafa, Pooi-Fong Wong
Circulating microRNAs (miRNAs) hold great potential as novel diagnostic markers for acute coronary syndrome (ACS). This study sought to identify plasma miRNAs that are differentially expressed in young ACS patients (mean age of 38.5 ± 4.3 years) and evaluate their diagnostic potentials. Small RNA sequencing (sRNA-seq) was used to profile plasma miRNAs. Discriminatory power of the miRNAs was determined using receiver operating characteristic (ROC) analysis. Thirteen up-regulated and 16 down-regulated miRNAs were identified in young ACS patients...
May 15, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29761882/the-prevalence-of-obesity-in-children-and-young-people-with-down-syndrome
#13
Muireann O' Shea, Carol O' Shea, Louise Gibson, Jennifer Leo, Catherine Carty
BACKGROUND: Overweight and obesity is a growing concern among individuals with intellectual disabilities; however, little is known about the prevalence among children and youth with Down syndrome (CYDS). The purpose of this study was to determine the prevalence of overweight/obesity among CYDS in South West Ireland. METHODS: This cross-sectional study measured height and weight of 61 CYDS aged 4-16 years. Body mass index (BMI) was calculated and percentage body fat (PBF) was measured using bio-electrical impendence analysis (BIA)...
May 15, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29761267/porcine-fc%C3%AE%C2%B5ri-mediates-porcine-reproductive-and-respiratory-syndrome-virus-multiplication-and-regulates-the-inflammatory-reaction
#14
Peidian Shi, Lilin Zhang, Jiashun Wang, Dong Lu, Yi Li, Jie Ren, Menglu Shen, Lei Zhang, Jinhai Huang
Porcine reproductive and respiratory syndrome virus (PRRSV) shows characteristic antibody-dependent enhancement (ADE) of infection and causes porcine systemic inflammation, which is similar to a type I allergic reaction; however, the role of porcine FcεRI in ADE is still unclear. In this study, the expression of different Fc receptors (FcRs) on macrophages was investigated in a PRRSV 3D4/21 cell infection model in the presence or absence of PRRSV antibody. The transcription level of FcγII and FcεRI was significantly up-regulated under PRRSV-antibody complex infection...
May 14, 2018: Virologica Sinica
https://www.readbyqxmd.com/read/29760348/what-causes-pulmonary-arterial-hypertension-in-down-syndrome-with-congenital-heart-disease
#15
Susumu Hosokawa, Rebecca R Vanderpool, Taku Ishii, Mitsunori Nishiyama, Shozaburo Doi
No abstract text is available yet for this article.
May 12, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/29760202/survey-of-human-chromosome-21-gene-expression-effects-on-early-development-in-danio-rerio
#16
Sarah Edie, Norann A Zaghloul, Carmen C Leitch, Donna K Klinedinst, Janette Lebron, Joey F Thole, Andrew S McCallion, Nicholas Katsanis, Roger H Reeves
Trisomy for human chromosome 21 (Hsa21) results in Down syndrome (DS), one of the most genetically complex conditions compatible with human survival. Assessment of the physiological consequences of dosage-driven overexpression of individual Hsa21 genes during early embryogenesis and the resulting contributions to DS pathology in mammals are not tractable in a systematic way. A recent study looked loss-of-function of C. elegans orthologues of Hsa21 genes and identified ten candidates with behavioral phenotypes, but the equivalent over-expression experiment has not been done...
May 14, 2018: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29760010/home-oximetry-to-screen-for-obstructive-sleep-apnoea-in-down-syndrome
#17
Catherine M Hill, Heather E Elphick, Michael Farquhar, Paul Gringras, Ruth M Pickering, Ruth N Kingshott, Jane Martin, Janine Reynolds, Anna Joyce, Johanna C Gavlak, Hazel J Evans
OBJECTIVE: Children with Down syndrome are at high risk of obstructive sleep apnoea (OSA) and screening is recommended. Diagnosis of OSA should be confirmed with multichannel sleep studies. We aimed to determine whether home pulse oximetry (HPO) discriminates children at high risk of OSA, who need further diagnostic multichannel sleep studies. DESIGN: Cross-sectional prospective study in a training sample recruited through three UK centres. Validation sample used single-centre retrospective analysis of clinical data...
May 14, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29759551/genomics-and-pharmacogenomics-of-pediatric-acute-lymphoblastic-leukemia
#18
REVIEW
Chuan Wu, Wei Li
Acute lymphoblastic leukaemia (ALL) is a prevalent form of pediatric cancer that accounts for 70-80% of all leukemias. Genome-based analysis, exome sequencing, transcriptomics and proteomics have provided insight into genetic classification of ALL and helped identify novel subtypes of the disease. B and T cell-based ALL are two well-characterized genomic subtypes, significantly marked by bone marrow disorders, along with mutations in trisomy 21 and T53. The other ALLs include Early T-cell precursor ALL, Philadelphia chromosome-like ALL, Down syndrome-associated ALL and Relapsed ALL...
June 2018: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/29758452/evaluation-of-machine-learning-algorithms-for-improved-risk-assessment-for-down-s-syndrome
#19
Aki Koivu, Teemu Korpimäki, Petri Kivelä, Tapio Pahikkala, Mikko Sairanen
Prenatal screening generates a great amount of data that is used for predicting risk of various disorders. Prenatal risk assessment is based on multiple clinical variables and overall performance is defined by how well the risk algorithm is optimized for the population in question. This article evaluates machine learning algorithms to improve performance of first trimester screening of Down syndrome. Machine learning algorithms pose an adaptive alternative to develop better risk assessment models using the existing clinical variables...
May 4, 2018: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/29758285/filaggrin-2-deficiency-results-in-abnormal-cell-cell-adhesion-in-the-cornified-cell-layers-and-causes-peeling-skin-syndrome-type-a
#20
Janan Mohamad, Ofer Sarig, Lisa M Godsel, Alon Peled, Natalia Malchin, Ron Bochner, Dan Vodo, Tom Rabinowitz, Mor Pavlovsky, Shahar Taiber, Maya Fried, Marina Eskin-Schwartz, Siwar Assi, Noam Shomron, Jouni Uitto, Jennifer L Koetsier, Reuven Bergman, Kathleen J Green, Eli Sprecher
Peeling skin syndromes form a large and heterogeneous group of inherited disorders characterized by superficial detachment of the epidermal cornified cell layers, often associated with inflammatory features. Here we report on a consanguineous family featuring non-inflammatory peeling of the skin exacerbated by exposure to heat and mechanical stress. Whole exome sequencing revealed a homozygous nonsense mutation in FLG2, encoding filaggrin 2, which co-segregated with the disease phenotype in the family. The mutation was found to result in decreased FLG2 RNA levels as well almost total absence of filaggrin 2 in the patient epidermis...
May 11, 2018: Journal of Investigative Dermatology
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