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    1 OF 670

    Fetopathological examination for the fetuses with Down syndrome in Tunisia: Epidemiological study and associated malformations.
    Pathol Res Pract 2017 May 8. Epub 2017 May 8.
    Laboratoire de Génétique, Immunologie et Pathologie Humaine, Faculté des Sciences de Tunis, Université Tunis El Manar, 1068 Tunis, Tunisia.
    Background: For Down syndrome (DS), traditional epidemiological studies to determine the prevalence, cause, and clinical significance of the syndrome have been conducted over the last 100 years. In Tunisia, the current work is the first in-depth study in epidemiology of DS from fetopathological data.

    Aim Of The Study: The aim of this epidemiological study was to determine the impact of some feto-maternal characteristics in occurrence of DS and to search the frequency of associated congenital malformations with this syndrome. Read More

    Predicting the presence of sleep-disordered breathing in children with Down syndrome.
    Sleep Med 2017 Aug 31;36:104-108. Epub 2017 May 31.
    Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Department of Pediatrics, Faculty of Medicine, University of Ottawa, Ottawa, Ontario, Canada; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada. Electronic address:
    Objective: Sleep-disordered breathing (SDB) is highly prevalent in children with Down syndrome. Given the scarcity of resources and the presence of risk factors for SDB in this population, the objective of this study is to identify the clinical predictors of SDB, which would assist prioritization of children with Down syndrome for SDB evaluation.

    Methods: A retrospective cohort study was conducted on children enrolled in the Down syndrome clinic at CHEO who underwent polysomnography in 2004-2014. Read More

    A Requirement for Mena, an Actin Regulator, in Local mRNA Translation in Developing Neurons.
    Neuron 2017 Jul 15. Epub 2017 Jul 15.
    The Koch Institute for Integrative Cancer Research, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. Electronic address:
    During neuronal development, local mRNA translation is required for axon guidance and synaptogenesis, and dysregulation of this process contributes to multiple neurodevelopmental and cognitive disorders. However, regulation of local protein synthesis in developing axons remains poorly understood. Here, we uncover a novel role for the actin-regulatory protein Mena in the formation of a ribonucleoprotein complex that involves the RNA-binding proteins HnrnpK and PCBP1 and regulates local translation of specific mRNAs in developing axons. Read More

    Activation of mTOR is involved in anti-β2GPI/β2GPI-induced expression of tissue factor and IL-8 in monocytes.
    Thromb Res 2017 Jun 1;157:103-110. Epub 2017 Jun 1.
    Department of Cardiology, Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu 212013, PR China. Electronic address:
    Previous study has demonstrated that activation of the mammalian target of rapamycin (mTOR) pathway in endothelial cells (ECs) results in the formation of chronic vascular lesions associated with antiphospholipid syndrome (APS). In addition, it has been shown that stimulation of monocytes and ECs by antiphospholipid antibodies (aPL) leads to a prothrombotic and proinflammatory state and up-regulated expression of tissue factor (TF) and inflammatory cytokines. However, the role of mTOR in pathogenic mechanisms of APS remains largely unexplored. Read More

    A Review of Biomarkers for Alzheimer's Disease in Down Syndrome.
    Neurol Ther 2017 Jul 21;6(Suppl 1):69-81. Epub 2017 Jul 21.
    Department of Medical Genetics and Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan.
    Down syndrome (Trisomy 21; DS) is a unique disease known to be associated with early-onset Alzheimer's disease (AD). The initial presentation of AD in DS is usually difficult to recognize, owing to the underlying intellectual disabilities. Using biomarkers as a prediction tool for detecting AD in at-risk people with DS may benefit patient care. Read More

    Thermal imprinting modifies bone homeostasis in cold challenged sea bream (Sparus aurata, L.).
    J Exp Biol 2017 Jul 21. Epub 2017 Jul 21.
    Centro de Ciências do Mar (CCMAR), Universidade do Algarve, Campus de Gambelas, 8005-139 Faro, Portugal
    Fish are ectotherms and temperature plays a determinant role in their physiology, biology and ecology and is a driver of seasonal responses. The present study assessed how thermal imprinting during embryonic and larval stages modified the response of adult fish to low water temperature. We targeted the gilthead sea bream that develops a condition known as winter syndrome when it is exposed to low water temperatures. Read More

    Ileal Perforation with Norovirus Gastroenteritis in a 3-Month-Old Infant.
    Pediatr Gastroenterol Hepatol Nutr 2017 Jun 28;20(2):130-133. Epub 2017 Jun 28.
    Department of Pediatrics, Dongguk University Ilsan Hospital, Goyang, Korea.
    Noroviruses have been recognized as the leading cause of epidemic and sporadic gastroenteritis since the advent of molecular diagnostic technique. They have been documented in 5-31% of pediatric patients hospitalized with gastroenteritis. Although norovirus gastroenteritis is typically mild and self-limited, it causes severe, but sometimes fatal, conditions in the vulnerable population such as immunocompromised patients, young children, and the elderly. Read More

    Social Inclusion of Children With Down Syndrome: Jewish and Muslim Mothers' Knowledge, Attitudes, Beliefs, and Behavioral Intentions.
    J Pediatr Nurs 2017 Jul - Aug;35:50-56. Epub 2017 Mar 9.
    Nursing Department, School of Health Professions, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:
    Purpose: The current study examined mothers' knowledge, beliefs, attitudes, and intention to socially integrate children with Down syndrome (DS) in the family, with children without disabilities and school system.

    Design And Methods: A questionnaire based on a descriptive, cross-sectional design was administered to Jewish and Muslim mothers. The questionnaire included demographics, knowledge, beliefs, attitudes, and intention to integrate children with DS. Read More

    Success of Tonsillectomy for Obstructive Sleep Apnea in Children With Down Syndrome.
    J Clin Sleep Med 2017 Jul 14. Epub 2017 Jul 14.
    Study Objectives: Obstructive sleep apnea (OSA) is common in children with Down syndrome (DS) and associated with significant morbidity. In the current study we examined polysomnographic outcomes of children with DS who underwent tonsillectomy.

    Methods: A retrospective chart review of children with DS who underwent a tonsillectomy between 2009-2015 was performed. Read More

    Validation and Normalization of the Tower of London-Drexel University Test 2nd Edition in an Adult Population with Intellectual Disability.
    Span J Psychol 2017 Jul 20;20:E32. Epub 2017 Jul 20.
    Parc Hospitalari Martí i Julià(Spain).
    Despite how important it is to assess executive functioning in persons with Intellectual Disability (ID), instruments adapted and validated for this population are scarce. This study's primary goal was to find evidence for the validity of the ID version of the Tower of London (TOLDXtm) test in persons with mild (IDMi) and moderate (IDMo) levels of ID with Down Syndrome (DS). A multicenter study was carried out. Read More

    A cross-sectional analysis of executive function in Down syndrome from 2 to 35 years.
    J Intellect Disabil Res 2017 Jul 20. Epub 2017 Jul 20.
    Department of Communication Sciences and Disorders, University of Mississippi, Oxford, MS, USA.
    Background: Previous research has indicated a unique profile of executive function (EF) in children and adolescents with Down syndrome (DS). However, there is a paucity of research on EF in adults with DS. This study aimed to gain a broader understanding of strengths and weaknesses in EF in DS from 2 to 35 years. Read More

    Relationship between normal tension glaucoma and Flammer syndrome.
    EPMA J 2017 Jun 2;8(2):111-117. Epub 2017 Jun 2.
    Department of Ophthalmology, Seoul National University Hospital, Seoul, South Korea.
    Background: Besides intraocular pressure, vascular factors play a role in the pathogenesis of glaucomatous optic neuropathy. One of these potential vascular factors is Flammer syndrome. The purpose of the present study was to determine in a Korean population whether signs and symptoms of Flammer syndrome occur more often in normal tension glaucoma patients than in control subjects. Read More

    Effects of Zinc Finger Protein A20 on Lipopolysaccharide (LPS)-Induced Pulmonary Inflammation/Anti-Inflammatory Mediators in an Acute Lung Injury/Acute Respiratory Distress Syndrome Rat Model.
    Med Sci Monit 2017 Jul 20;23:3536-3545. Epub 2017 Jul 20.
    Department of Internal Medicine-Cardiovascular, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China (mainland).
    BACKGROUND The aim of this study was to investigate the effects of zinc finger protein A20 on lipopolysaccharide (LPS)-induced pulmonary inflammation/anti-inflammatory mediators in an acute lung injury/acute respiratory distress syndrome (ALI/ARDS) rat model. MATERIAL AND METHODS Forty-eight ALI/ARDS rats were selected and assigned into normal saline (NS) (injected with NS), LPS (injected with LPS), LPS-C1 (injected with pEGFP-C1, NS and LPS), and A20 groups (injected with pEGFP-C1-A20, NS, and LPS). The wet/dry (W/D) ratio of rat lung tissues and total protein concentration and the number of neutrophils in bronchoalveolar lavage fluid (BALF) were detected. Read More

    Strong impact of ethnicity on effectiveness of the first trimester maternal serum screen of fetal Down syndrome.
    J Matern Fetal Neonatal Med 2017 Jul 20. Epub 2017 Jul 20.
    a Department of Obstetrics and Gynecology , Faculty of Medicine Chiang Mai University , Chiang Mai , Thailand.
    Objectives: To compare the effectiveness of first trimester maternal serum screening (MSS) for fetal Down syndrome among Thai women between the method using Caucasian reference ranges with racial factor correction (CRR-RC) and that using Thai reference ranges (TRR).

    Methods: A prospective database of MSS was accessed. The levels of PAPP-A and beta-hCG were calculated to determine their MoMs (multiple of medians) by two methods: 1) CRR-RC for Asian women and 2) TRR. Read More

    Coronavirus nucleocapsid proteins assemble constitutively in high molecular oligomers.
    Sci Rep 2017 Jul 18;7(1):5740. Epub 2017 Jul 18.
    Department of Cell Biology, University Medical Center Groningen, University of Groningen, A. Deusinglaan 1, 9713 AV, Groningen, The Netherlands.
    Coronaviruses (CoV) are enveloped viruses and rely on their nucleocapsid N protein to incorporate the positive-stranded genomic RNA into the virions. CoV N proteins form oligomers but the mechanism and relevance underlying their multimerization remain to be fully understood. Using in vitro pull-down experiments and density glycerol gradients, we found that at least 3 regions distributed over its entire length mediate the self-interaction of mouse hepatitis virus (MHV) and severe acute respiratory syndrome coronavirus (SARS-CoV) N protein. Read More

    Developmental expression and dysregulation of miR-146a and miR-155 in Down's syndrome and mouse models of Down's syndrome and Alzheimer's disease.
    Curr Alzheimer Res 2017 Jul 6. Epub 2017 Jul 6.
    Department of (Neuro)Pathology, Academic Medical Center, University of Amsterdam, Netherlands.
    miR-146a and miR-155 are key regulators of the innate immune response. We hypothesized that an inflammation-mediated dysregulation of these miRNAs may occur in patients with Down syndrome (DS) and Alzheimer's disease (AD). The miRNA expression patterns were investigated by in situ hybridization in developing hippocampus from controls, patients with DS and in adults with AD pathology (DS and sporadic AD; sAD). Read More

    Long-Term Outcomes of a Multidisciplinary Weight Management Intervention for Youth with Disabilities.
    Child Obes 2017 Jul 18. Epub 2017 Jul 18.
    1 Department of Pediatrics, Center for Children's Healthy Lifestyles and Nutrition , Kansas City, MO.
    Background: Youth with disabilities are at increased risk for obesity compared with their typically developing peers and face unique barriers to healthy lifestyles. A limited number of weight management programs have been specifically tailored to accommodate youth with disabilities, and outcomes research in this population is scarce. We investigated the effectiveness of a specialized multidisciplinary weight management program for children with disabilities. Read More

    Decreasing the Expression of GABAA α5 Subunit-Containing Receptors Partially Improves Cognitive, Electrophysiological, and Morphological Hippocampal Defects in the Ts65Dn Model of Down Syndrome.
    Mol Neurobiol 2017 Jul 17. Epub 2017 Jul 17.
    Departamento de Fisiología y Farmacología, Facultad de Medicina, Universidad deCantabria, Santander, Spain.
    Trisomy 21 or Down syndrome (DS) is the most common cause of intellectual disability of a genetic origin. The Ts65Dn (TS) mouse, which is the most commonly used and best-characterized mouse model of DS, displays many of the cognitive, neuromorphological, and biochemical anomalies that are found in the human condition. One of the mechanisms that have been proposed to be responsible for the cognitive deficits in this mouse model is impaired GABA-mediated inhibition. Read More

    Comparative proteome analysis for identification of differentially abundant proteins in SIDS.
    Int J Legal Med 2017 Jul 17. Epub 2017 Jul 17.
    Medical Faculty, University of Cologne, Institute of Legal Medicine, Cologne, Germany.
    Sudden infant death syndrome (SIDS) remains one of the most common causes of post-neonatal infant mortality in developed countries. Its pathogenesis is still poorly understood. The goal of the present study was to characterize changes in the proteome of SIDS compared to age-matched controls in heart and medulla tissues as well as in blood samples using two complementary quantitative proteomic techniques: 2D-DIGE and iTRAQ aiming to provide new insights into the mechanism of SIDS and to find diagnostic protein patterns. Read More

    Dexamethasone-induced hepatomegaly and steatosis in larval zebrafish.
    J Toxicol Sci 2017 ;42(4):455-459
    School of Veterinary Medicine, Rakuno Gakuen University.
    Fish hepatobiliary syndrome, characterized by hepatomegaly and fatty liver, has been frequently reported in many cultured fish species and has caused a dramatic economic loss in China. Glucocorticoids are thought to be important non-nutritional factors for hepatomegaly and fatty liver development. In the present study, a dexamethasone-induced zebrafish model of fatty liver and hepatomegaly was established, and the role of glucocorticoid receptor (GR) in the development of hepatomegaly and fatty liver was investigated using developing zebrafish. Read More

    Amniotic Fluid Angiogenic and Inflammatory Factor Profiling in Foetal Down Syndrome.
    Fetal Diagn Ther 2017 Jul 15. Epub 2017 Jul 15.
    Department of Reproduction and Gynaecological Endocrinology, Medical University of Bialystok, Bialystok, Poland.
    Objectives: Angiogenic factors are proteins that can potentially be related to certain foetal chromosomal abnormalities. The goal of this study was to determine the concentrations of 60 angiogenic factors in the amniotic fluid of women carrying foetuses with Down syndrome (DS).

    Methods: After analysis of the karyotyping results, for the purpose of this study, we chose 12 women with foetal DS. Read More

    Cognitive decline and brain amyloid-β accumulation across 3 years in adults with Down syndrome.
    Neurobiol Aging 2017 Jun 2;58:68-76. Epub 2017 Jun 2.
    University of Wisconsin-Madison, Waisman Center, Madison, WI, USA; Department of Medical Physics, University of Wisconsin-Madison, Madison, WI, USA.
    Adults with Down syndrome (DS) have a high incidence of Alzheimer's disease (AD), providing a unique opportunity to explore the early, preclinical stages of AD neuropathology. We examined change in brain amyloid-β accumulation via the positron emission tomography tracer [11C] Pittsburgh compound B (PiB) across 2 data collection cycles, spaced 3 years apart, and decline in cognitive functioning in 58 adults with DS without clinical AD. PiB retention increased in the anterior cingulate gyrus, precuneus cortex, parietal cortex, and anterior ventral striatum. Read More

    Signatures of inflammation and impending multiple organ dysfunction in the hyperacute phase of trauma: A prospective cohort study.
    PLoS Med 2017 Jul 17;14(7):e1002352. Epub 2017 Jul 17.
    Centre for Trauma Sciences, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
    Background: Severe trauma induces a widespread response of the immune system. This "genomic storm" can lead to poor outcomes, including Multiple Organ Dysfunction Syndrome (MODS). MODS carries a high mortality and morbidity rate and adversely affects long-term health outcomes. Read More

    Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children.
    Gene 2017 Jul 13. Epub 2017 Jul 13.
    College of Veterinary Sciences and Animal Husbandry, Anand Agricultural University, India.
    Nephrotic syndrome (NS) is the common glomerular disease in children. These children are treated with steroids, depending upon their behavior. They are either steroid sensitive (SSNS) or steroid resistant (SRNS). Read More

    Overcoming the hydrolytic lability of a reaction intermediate in production of protein/drug conjugates: conjugation of an acyclic nucleoside phosphonate to a model carrier protein.
    Mol Pharm 2017 Jul 17. Epub 2017 Jul 17.
    Acquired immunodeficiency syndrome (AIDS) remains one of the most serious public health challenges and a significant cause of mortality for certain populations. Despite the large number of antiretrovirals developed in the past two decades, the inability of small molecule therapeutics to target HIV reservoirs directly creates a significant obstacle to their effective utilization. Indeed, achieving the desired therapeutic outcome in the absence of an effective means of targeted delivery must rely on dosage escalation, which frequently causes severe toxicity. Read More

    Functional magnetic resonance imaging response as an early biomarker of cognitive decline in elderly patients with metabolic syndrome.
    Arch Gerontol Geriatr 2017 Jul 8;73:1-7. Epub 2017 Jul 8.
    Psychiatry Department, Escola Paulista de Medicina, Universidade Federal de São Paulo, Rua Borges Lagoa, 570, CEP:04038-030, São Paulo, SP, Brazil. Electronic address:
    Objectives: We assessed whether potential changes in brain activation patterns of elderly individuals with metabolic syndrome (MetS) who were cognitively healthy (without mild cognitive impairment or dementia) were associated with cognitive decline in executive function in the short-term.

    Method: We analyzed 43 individuals (23 MetS, 20 controls) using a global geriatric evaluation, a neuropsychological battery, and task-related (attention) fMRI exam. Correlation analysis between the fMRI signal at baseline and cognitive impairment after 1year was based on the voxel-based Pearson coefficient, corrected for multiple comparisons. Read More

    Patients' Knowledge of Prenatal Screening for Trisomy 21.
    J Genet Couns 2017 Jul 14. Epub 2017 Jul 14.
    Department of Obstetrics & Gynaecology, Mount Sinai Hospital, 600 University Avenue, Toronto, ON, M5G 1X5, Canada.
    This study's objective was to assess the knowledge of prenatal screening for Trisomy 21 in pregnant women in one institution in Canada. A cross-sectional survey measuring demographics, knowledge of screening, and health literacy, was administered to pregnant women. Of the 135 women who completed the survey, 74% had adequate knowledge of Trisomy 21 and associated screening procedures. Read More

    A Pacifastacus leniusculus serine protease interacts with WSSV.
    Fish Shellfish Immunol 2017 Jul 10;68:211-219. Epub 2017 Jul 10.
    Department of Comparative Physiology, Uppsala University, Uppsala, Sweden. Electronic address:
    Serine proteases are involved in many critical physiological processes including virus spread and replication. In the present study, we identified a new clip-domain serine protease (PlcSP) in the crayfish Pacifastacus leniusculus hemocytes, which can interact with the White Spot Syndrome Virus (WSSV) envelope protein VP28. It was characterized by a classic clip domain with six strictly conserved Cys residues, and contained the conserved His-Asp-Ser (H-D-S) motif in the catalytic domain. Read More

    Disturbance of redox homeostasis in Down Syndrome: Role of iron dysmetabolism.
    Free Radic Biol Med 2017 Jul 10. Epub 2017 Jul 10.
    Department of Biochemical Sciences, Sapienza University of Rome, P.le Aldo Moro, 5, 00185 Rome, Italy. Electronic address:
    Down Syndrome (DS) is the most common genetic form of intellectual disability that leads in the majority of cases to development of early-onset Alzheimer-like dementia (AD). The neuropathology of DS has several common features with AD including alteration of redox homeostasis, mitochondrial deficits, and inflammation among others. Interestingly, some of the genes encoded by chromosome 21 are responsible of increased oxidative stress (OS) conditions that are further exacerbated by decreased antioxidant defense. Read More

    A rare case of pediatric primary cardiac tumor in a patient with Down syndrome.
    Asian Cardiovasc Thorac Ann 2017 Jan 1:218492317721788. Epub 2017 Jan 1.
    Department of Pediatric Cardiac Surgery, Saitama Medical University, International Medical Center, Hidaka City, Saitama, Japan.
    Although hematological malignancies are a known complication of Down syndrome, few reports have described cases involving solid tumors. We describe the case of a 3-year-old Down syndrome girl with a primary solid cardiac tumor. Outpatient echocardiography after intracardiac repair of a ventricular septal defect at 6 months of age revealed a highly mobile pedunculated mass (8 × 9 mm) on the free wall of the right atrium. Read More

    Variation in the Zinc Finger of PRDM9 is Associated with the Absence of Recombination along Nondisjoined Chromosomes 21 of Maternal Origin.
    J Down Syndr Chromosom Abnorm 2016 Dec 23;2(2). Epub 2016 Nov 23.
    Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
    Variation in the zinc finger-binding domain (ZFBD) of the protein PR Domain-Containing Protein 9 (PRDM9) is associated with altered placement of recombination in the human genome. As both the absence and altered placement of recombination are observed among chromosomes 21 that nondisjoin, we genotyped the PRDM9 ZFBD among mothers of children with Trisomy 21 in efforts to determine if variation within this region is associated with the recombination-related risk for chromosome 21 nondisjunction (NDJ). In our approach, PCR was used to amplify the ZFBD of PRDM9 and products were then subjected to bi-directional Sanger sequencing. Read More

    Cognitive and motor reaction times in obstructive sleep apnea syndrome: A study based on computerized measures.
    Brain Cogn 2017 Oct 9;117:26-32. Epub 2017 Jul 9.
    Department of General Psychology, University of Padua, Italy; Human Inspired Technology Research Centre, University of Padua, Italy. Electronic address:
    Obstructive Sleep Apnea Syndrome (OSAS) is mainly associated with executive dysfunction. Although delayed reaction times (RTs) in patients with OSAS have been reported, sensitivity of processing speed has not been adequately assessed. This study suggests sensitive and reliable measures to clarify whether different components of information processing speed, i. Read More

    Oxidant production and SOD1 protein expression in single skeletal myofibers from Down syndrome mice.
    Redox Biol 2017 Jul 4;13:421-425. Epub 2017 Jul 4.
    Syracuse University, Department of Exercise Science, Syracuse, NY, USA. Electronic address:
    Down syndrome (DS) is a genetic condition caused by the triplication of chromosome 21. Persons with DS exhibit pronounced muscle weakness, which also occurs in the Ts65Dn mouse model of DS. Oxidative stress is thought to be an underlying factor in the development of DS-related pathologies including muscle dysfunction. Read More

    Recognizing Syndromic Hidradenitis Suppurativa: a review of the literature.
    J Eur Acad Dermatol Venereol 2017 Jul 11. Epub 2017 Jul 11.
    Department of Dermatology, Zealand University Hospital, Roskilde; Health Sciences Faculty, University of Copenhagen, Denmark.
    Background: Hidradenitis suppurativa (HS) is an inflammatory skin disease causing painful inflammation and suppuration. It may occur in rare syndromes: follicular occlusion, Bazex-Dupré-Christol, Down's, KID, PAPASH, PASS, PASH, and SAPHO syndromes, as well as Dowling-Degos disease. An overview of syndromic HS may inform the search for etiological factors in HS. Read More

    Knockdown of Myo-Inositol Transporter SMIT1 Normalizes Cholinergic and Glutamatergic Function in an Immortalized Cell Line Established from the Cerebral Cortex of a Trisomy 16 Fetal Mouse, an Animal Model of Human Trisomy 21 (Down Syndrome).
    Neurotox Res 2017 Jul 10. Epub 2017 Jul 10.
    Program of Molecular and Clinical Pharmacology, ICBM, Faculty of Medicine, University of Chile, Clasificador 7, Independencia, 1027, Santiago, Chile.
    The Na(+)/myo-inositol cotransporter (SMIT1) is overexpressed in human Down syndrome (DS) and in trisomy 16 fetal mice (Ts16), an animal model of the human condition. SMIT1 overexpression determines increased levels of intracellular myo-inositol, a precursor of phophoinositide synthesis. SMIT1 is overexpressed in CTb cells, an immortalized cell line established from the cerebral cortex of a Ts16 mouse fetus. Read More

    Self-Injurious Behavior.
    Neurosci Biobehav Rev 2017 Jul 7. Epub 2017 Jul 7.
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands.
    Self-injurious behavior (SIB) is a relatively common behavior in individuals with intellectual disabilities (ID). Severe SIB can be devastating and potentially life-threatening. There is increasing attention for somatic substrates of behavior in genetic syndromes, and growing evidence of an association between pain and discomfort with SIB in people with ID and genetic syndromes. Read More

    Cyclic PaO2 oscillations assessed in the renal microcirculation: correlation with tidal volume in a porcine model of lung lavage.
    BMC Anesthesiol 2017 Jul 11;17(1):92. Epub 2017 Jul 11.
    Department of Anesthesiology, Medical Center of the Johannes Gutenberg-University, Mainz, Germany.
    Background: Oscillations of the arterial partial pressure of oxygen induced by varying shunt fractions occur during cyclic alveolar recruitment within the injured lung. Recently, these were proposed as a pathomechanism that may be relevant for remote organ injury following acute respiratory distress syndrome. This study examines the transmission of oxygen oscillations to the renal tissue and their tidal volume dependency. Read More

    Parenting children with down syndrome: An analysis of parenting styles, parenting dimensions, and parental stress.
    Res Dev Disabil 2017 Jul 7;68:9-19. Epub 2017 Jul 7.
    University of Alabama, Tuscaloosa, AL, 35487, USA.
    Background: Effective parenting is vital for a child's development. Although much work has been conducted on parenting typically developing children, little work has examined parenting children with Down syndrome.

    Aims: The purpose of the current study was to compare the parenting styles and dimensions in mothers of children with DS and mothers of TD children. Read More

    Deep hypothermia therapy attenuates LPS-induced microglia neuroinflammation via the STAT3 pathway.
    Neuroscience 2017 Jul 5;358:201-210. Epub 2017 Jul 5.
    Department of Congenital Heart Disease/Pediatric Cardiology, German Heart Institute Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
    Deep hypothermia therapy (HT) is a standard method for neuroprotection during complex pediatric cardiac surgery involving extracorporeal circulation and deep hypothermic cardiac arrest. The procedure, however, can provoke systemic inflammatory response syndrome (SIRS), one of the most severe side effects associated with pediatric cardiac surgery. To date, the cellular inflammatory mechanisms induced by deep HT remain to be elucidated. Read More

    Demographics and co-occurring conditions in a clinic-based cohort with Down syndrome in the United Arab Emirates.
    Am J Med Genet A 2017 Jul 7. Epub 2017 Jul 7.
    Department of Neonatology, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.
    The majority of studies describing demographics and co-occurring conditions in cohorts with Down syndrome come from regions outside of the Middle East, mainly from Europe and North America. This paper describes demographics and co-occurring conditions in a hospital-based cohort of individuals with Down syndrome living in the Middle Eastern country of the United Arab Emirates (UAE). The first dedicated Down syndrome clinic in the UAE was established in 2012 at Tawam Hospital in Al Ain. Read More

    The Roles of β-Integrin of Chinese Shrimp (Fenneropenaeus chinensis) in WSSV Infection.
    Int J Mol Sci 2017 Jul 7;18(7). Epub 2017 Jul 7.
    Laboratory of Pathology and Immunology of Aquatic Animals, Ocean University of China, 5 Yushan Road, Qingdao 266003, China.
    Our previous study demonstrated that an integrin β subunit of Chinese shrimp (Fenneropenaeus chinensis) (FcβInt) plays an important role in white spot syndrome virus (WSSV) infection. In the present work, in order to further elucidate the potential role of FcβInt in WSSV infection, the recombinant extracellular domain of β integringene of F. Chinensis (rFcβInt-ER) was expressed in Escherichia coli BL21 (DE3), and the eukaryotic expression plasmid PcDNA3. Read More

    The post-therapeutic effect of rapamycin in mild traumatic brain injured rats ensuing in the upregulation of autophagy and mitophagy.
    Cell Biol Int 2017 Jul 7. Epub 2017 Jul 7.
    Institute of Neuroscience, Zhejiang University School of Medicine, Hangzhou, 310058, China.
    Mild traumatic brain injury (mTBI), common in juveniles, has been reported to be caused by sports-related concussion. Many young children may suffer from post-concussion syndrome. mTBI, in early stages of life, could play a part in neuron apoptosis and degeneration, cognitive and motor coordination impairment, as well as dementia. Read More

    Bone mineral density in adults with Down syndrome.
    Osteoporos Int 2017 Jul 6. Epub 2017 Jul 6.
    Department of Gerontology, Neurosciences, Head and Neck and Orthopedics, Catholic University of the Sacred Heart, Largo Agostino Gemelli, 8, 00168, Rome, Italy.
    This study analyzed data of bone mineral density (BMD) from a large cohort of adults with Down syndrome (DS). BMD was found to decrease with age more rapidly in these subjects than in the general population, exposing adults with DS to an increased risk of osteoporosis and bone fracture.

    Introduction: Down syndrome (DS) in adulthood presents with a high prevalence of osteoporosis. Read More

    Differential expression of homologous recombination DNA repair genes in the early and advanced stages of myelodysplastic syndrome.
    Eur J Haematol 2017 Jul 5. Epub 2017 Jul 5.
    Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
    Background: The high incidence of mutations and cytogenetic abnormalities in patients with myelodysplastic syndrome (MDS) suggests that defects in DNA repair mechanisms. We monitored DNA repair pathways in MDS and their alterations during disease progression.

    Methods: Expression profiling of DNA repair genes was performed on CD34+ cells, and paired samples were used for monitoring of RAD51 and XRCC2 gene expression during disease progression. Read More

    Views of the obstetric profession on non-invasive prenatal testing in Aotearoa New Zealand: A national survey.
    Aust N Z J Obstet Gynaecol 2017 Jul 6. Epub 2017 Jul 6.
    Department of Obstetrics and Gynaecology, Faculty of Medicine and Health Sciences, The University of Auckland, Auckland, New Zealand.
    Background: Non-invasive prenatal testing (NIPT) has been available in Aotearoa New Zealand (NZ) for approximately four years. It is likely to be introduced into the publicly funded prenatal screening service.

    Aim: To explore obstetrician use and views of NIPT, with consideration to its implementation into screening services for Down syndrome and other conditions. Read More

    Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts.
    SAGE Open Med 2017 19;5:2050312117715583. Epub 2017 Jun 19.
    Division of Ophthalmology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
    Background: Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse.

    Materials And Methods: Retrospective review of medical charts of patients with Down syndrome with visits to Cincinnati Children's Hospital from 1988 to 2013 was performed. A case series of five patients with Down syndrome and cataracts is presented. Read More

    Salivary density of Streptococcus mutans and Streptococcus sobrinus and dental caries in children and adolescents with Down syndrome.
    J Appl Oral Sci 2017 May-Jun;25(3):250-257
    Universidade Federal de Juiz de Fora, Faculdade de Odontologia, Departamento de Odontopediatria, Juiz de Fora, MG, Brasil.
    Objective: To assess and compare dental caries experience and salivary S. mutans, S. sobrinus, and streptococci counts between groups of Down syndrome and non-Down syndrome children and adolescents. Read More

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