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    Toll like receptor expression induced by exercise in obesity and metabolic syndrome: A systematic review.
    Exerc Immunol Rev 2018 ;24:60-71
    Exercise Science Laboratory, School of Kinesiology, Faculty of Medicine, Universidad Finis Terrae, Santiago, Chile.
    Background: Obesity and metabolic syndrome are disorders that correlate with the activation of pro-inflammatory pathways and cytokine production, to which Toll like receptors (TLR) contribute. Exercise may act as an anti-inflammatory modulator, but there is no consensus about the role of the TLR in this tuning. The present styudy aims to systematically review the current evidence on exercise-induced TLR regulation in animals and humans suffering from obesity and metabolic syndrome. Read More

    Repeatability of Monocular Acuity Testing in Adults with and without Down Syndrome.
    Optom Vis Sci 2018 Mar;95(3):202-211
    College of Optometry, University of Houston, Houston, Texas.
    Purpose: Individuals with Down syndrome may experience greater difficulty reliably performing visual acuity (VA) tests because of intellectual disability and limitations in visual quality. This study evaluated the repeatability of acuity (Bailey-Lovie [BL] and HOTV) in subjects with and without Down syndrome.

    Methods: High-contrast VA was measured in both eyes of 30 subjects with Down syndrome (mean, 30 years; range, 18 to 50 years) and 24 control subjects without Down syndrome (mean, 29 years; range, 18 to 50 years). Read More

    Can early physical therapy positively affect the onset of independent walking in infants with Down syndrome? A retrospective cohort study.
    Minerva Pediatr 2018 Feb 19. Epub 2018 Feb 19.
    U.O.S.D. Fisiochinesiterapia, A.O.U. Policlinico Federico II, Naples, Italy.
    Background: The development of both gross and fine motor skills in a child with Down syndrome is generally delayed. The most seriously affected stage is the achievement of independent walking ability, which influences the onset of all following motor and cognityive skills. The study objectives were (a) to assess the time taken to achieve independent walking ability in a cohort of children with Down syndrome, (b) to examine differences in walking onset by patient characteristics, (c) to verify the effect of early physical therapy (Neurodevelopmental Treatment on the basis of Bobath Concept practised within the first months of life) in the achievement of that skill. Read More

    Novel Approaches to the Diagnosis of Chronic Disorders of Consciousness: Detecting Peripersonal Space by Using Ultrasonics.
    Front Neurol 2018 5;9:47. Epub 2018 Feb 5.
    IRCCS centro Neurolesi Bonino-Pulejo, Messina, Italy.
    The assessment of behavioral responsiveness in patients suffering from chronic disorders of consciousness (DoC), including Unresponsive Wakefulness Syndrome (UWS) and Minimally Conscious State (MCS), is challenging. Even if a patient is unresponsive, he/she may be covertly aware in reason of a cognitive-motor dissociation, i.e. Read More

    Late-onset fetal bilateral pleural effusions associated with Down syndrome.
    Taiwan J Obstet Gynecol 2018 Feb;57(1):133-136
    Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Bioengineering, Tatung University, Taipei, Taiwan.
    Objective: We present two cases of late-onset bilateral fetal pleural effusions associated with fetal Down syndrome.

    Case Reports: Case 1. A 33-year-old Vietnamese woman had undergone regular sonographic examinations since 23 weeks of gestation and no abnormality had been noted. Read More

    1p deletion syndrome: A prenatal diagnosis characterized by an abnormal 1st trimester combined screening test, yet a normal NIPT result.
    Taiwan J Obstet Gynecol 2018 Feb;57(1):106-109
    Department of Obstetrics and Gynecology, Keelung Chang Gung Memorial Hospital, Keelung, Taiwan. Electronic address:
    Objective: To present a case with prenatal diagnosis and cytogenetic characterization of 1p36 deletion syndrome whose first trimester combined testing is abnormal but a normal NIPT result.

    Case Report: A 33-year-old had an abnormal 1st trimester fetal aneuploidy screening result, but no trisomies 13, 18, 21 were detected by the noninvasive prenatal testing. Amniocentesis was performed after ultrasound showed fetal ventriculomegaly and echogenic bowel. Read More

    Preliminary results of an anteverting triple periacetabular osteotomy for the treatment of hip instability in Down syndrome.
    J Child Orthop 2018 Feb;12(1):55-62
    Department of Orthopedic Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
    Purpose: To investigate the outcomes of an anteverting triple periacetabular osteotomy for the treatment of hip instability in skeletally immature patients with Down syndrome.

    Methods: We evaluated 16 patients (21 hips) with Down syndrome and hip instability who underwent an anteverting triple periacetabular osteotomy between 2007 and 2016. There were nine females and seven males with an average age of 7. Read More

    Association betweengene methylation in plasma in early pregnancy and Down's syndrome.
    Exp Ther Med 2018 Mar 16;15(3):2749-2754. Epub 2018 Jan 16.
    Department of Obstetrics and Gynecology, The Third Xiangya Hospital of Central South University, Changsha, Hunan 410013, P.R. China.
    Down's syndrome (DS), a chromosomal abnormal genetic disease caused by a local or total copy of chromosome 21, leads to patients suffering from delayed body growth, special facies, mild to moderate mental retardation and other symptoms, seriously affecting the life of patients. The aim of the present study was to examine the association between Down's syndrome critical region 4 () gene methylation in plasma in high-risk pregnant women with DS in early pregnancy (hereinafter referred to as pregnant women in early pregnancy) and DS, in order to screen new epigenetic markers for the clinical diagnosis of DS. DNA in peripheral blood cells and plasma in pregnant women in early pregnancy were treated with hydrosulphite. Read More

    Sleep behavior and EEG oscillations in aged Dp(16)1Yey/+mice: a Down syndrome model.
    Neuroscience 2018 Feb 15. Epub 2018 Feb 15.
    Institute for Behavioral Genetics, University of Colorado, Boulder, USA; Department of Integrative Physiology, University of Colorado, Boulder, USA; Linda Crnic Institute, Anschutz Medical School, Denver CO, USA. Electronic address:
    Down syndrome (DS) results from the triplication of genes located on human chromosome 21 (Hsa21). Though many cognitive and behavioral impairments are associated with DS, sleep disturbances remain poorly understood despite being a reported phenotype in approximately 60% of individuals diagnosed with DS. In this study, sleep and electroencephalography (EEG) oscillations were recorded from aged (12-14 mos. Read More

    miR144-3p inhibits PMVECs excessive proliferation in angiogenesis of hepatopulmonary syndrome via Tie2.
    Exp Cell Res 2018 Feb 14. Epub 2018 Feb 14.
    Department of Anesthesiology, Southwest Hospital, Third Military Medical University, Chongqing, 400038, China. Electronic address:
    Background/aim: Increasing evidence show microRNAs (miRNAs) are associated with hepatopulmonary syndrome (HPS). The aim of this study was to investigate the role of miR-144 in the angiogenesis of HPS, as well as to identify its underlying mechanism.

    Methods: The expression levels of miR-144-3p were assessed in pulmonary micro-vascular endothelial cells (PMVECs), as well as in lung tissues from rats with HPS. Read More

    Self-perceptions from people with Down syndrome in Japan.
    J Hum Genet 2018 Feb 15. Epub 2018 Feb 15.
    Department of Genetic Counseling, Graduate School of Humanities and Sciences, Ochanomizu University, Tokyo, Japan.
    Self-perception of people with Down Syndrome (DS) was originally studied in the United States in 2011; this study indicated that 99% of people with DS are happy with their lives. In this study, we investigated self-perceptions of people with DS in Japan and compared the results to the previous study made in the United States. The participants (n = 300) were 12 years old or older and members of Japan Down Syndrome Society (JDS). Read More

    Tyrosine hydroxylase down-regulation after loss of Abelson helper integration site 1 (AHI1) promotes depression via the circadian clock pathway in mice.
    J Biol Chem 2018 Feb 15. Epub 2018 Feb 15.
    Soochow University, China.
    Abelson helper integration site 1 (AHI1) is associated with several neuropsychiatric and brain developmental disorders such as schizophrenia, depression, autism, and Joubert syndrome.deficiency in mice leads to behaviors typical of depression. However, the mechanisms by which AHI1 regulates behavior remain to be elucidated. Read More

    Cardiac transplantation in children with Down syndrome, Turner syndrome, and other chromosomal anomalies: A multi-institutional outcomes analysis.
    J Heart Lung Transplant 2018 Jan 31. Epub 2018 Jan 31.
    Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA. Electronic address:
    Background: The purpose of this study was to describe the prevalence, characteristics, and outcomes in pediatric patients with chromosomal anomalies (CA) undergoing orthotopic heart transplantation (OHT).

    Methods: A query of the database of the Pediatric Health Information System, a large administrative and billing database of 43 tertiary children's hospitals, was performed for the Years 2004 to 2016. Pediatric patients who received OHT were analyzed based on presence and type of CA. Read More

    Second generation antipsychotic-induced mitochondrial alterations: Implications for increased risk of metabolic syndrome in patients with schizophrenia.
    Eur Neuropsychopharmacol 2018 Feb 12. Epub 2018 Feb 12.
    Translational Psychiatry Program, Department of Psychiatry and Behavioral Sciences, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA; Center of Excellence on Mood Disorders, Department of Psychiatry and Behavioral Sciences, McGovern Medical School, The University of Texas Health Science Center at Houston (UTHealth), Houston, TX, USA. Electronic address:
    Metabolic syndrome (MetS) is seen more frequently in persons with schizophrenia than in the general population, and these metabolic abnormalities are further aggravated by second generation antipsychotic (SGA) drugs. Although the underlying mechanisms responsible for the increased prevalence of MetS among patients under SGA treatment are not well understood, alterations in mitochondria function have been implicated. We performed a comprehensive evaluation of the role of mitochondrial dysfunction in the pathophysiology of drug-induced MetS in schizophrenia. Read More

    Identification and characterization of microRNA in the lung tissue of pigs with different susceptibilities to PCV2 infection.
    Vet Res 2018 Feb 15;49(1):18. Epub 2018 Feb 15.
    Shandong Provincial Key Laboratory of Animal Biotechnology and Disease Control and Prevention, Shandong Agricultural University, 61 Daizong Street, Taian, 271018, Shandong, China.
    Porcine circovirus type 2 (PCV2) is the primary cause of post-weaning multisystemic wasting syndrome (PMWS) and other PCV-associated diseases. According to our previous RNA-sequencing analysis, the differences in the susceptibility to PCV2 infection depended on the genetic differences between the Laiwu (LW) and Yorkshire × Landrace crossbred (YL) pigs, but the cellular microRNA (miRNA) that are differentially expressed between the LW and YL pigs before and after PCV2 infection remain to be determined. In this study, high-throughput sequencing was performed to determine the abundance and differential expression of miRNA in lung tissues from PCV2-infected and PCV2-uninfected LW and YL pigs. Read More

    Challenges and outcomes of cholesteatoma management in children with Down syndrome.
    Int J Pediatr Otorhinolaryngol 2018 Mar 2;106:80-84. Epub 2018 Feb 2.
    Ann & Robert H. Lurie Children's Hospital of Chicago, Division of Pediatric Otolaryngology-Head and Neck Surgery, Chicago, IL, United States; Northwestern University Feinberg School of Medicine, Department of Otolaryngology-Head and Neck Surgery, Chicago, IL, United States. Electronic address:
    Introduction: The high incidence of chronic otitis media with effusion and Eustachian tube dysfunction in children with Down syndrome (DS) may predispose them to cholesteatoma formation. Establishing the diagnosis, choosing the appropriate operative intervention, and post-operative care can be challenging.

    Objective: To describe management strategies for cholesteatoma diagnosis, surgical treatment, and post-operative management in children with Down syndrome. Read More

    Rhabdomyolysis After Prolonged Surgery: Report of 2 Cases and Review of Literature.
    J Oral Maxillofac Surg 2018 Feb 2. Epub 2018 Feb 2.
    Assistant Professor, Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston, MA. Electronic address:
    Rhabdomyolysis is a condition in which damaged muscle tissue breaks down and intracellular contents, including myoglobin, are released into the circulation. This produces a nonspecific clinical syndrome including electrolyte disturbances, hypovolemia, metabolic acidosis, coagulopathies, and risk of acute kidney injury. Rhabdomyolysis has been reported as a complication of prolonged surgical procedures but has rarely been reported in the oral and maxillofacial surgery literature. Read More

    Lingual tonsillectomy in children with Down syndrome: Is it safe?
    Int J Pediatr Otorhinolaryngol 2018 Feb 29;105:52-55. Epub 2017 Nov 29.
    Department of Otolaryngology and Pediatrics, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, United States.
    Objective: Evaluate peri-operative course and morbidity in children with Down syndrome (DS) who underwent a lingual tonsillectomy (LT) for residual obstructive sleep apnea (rOSA).

    Methods: Retrospective case series for children with DS who underwent LT for rOSA from April 2011 to July 2016. Our primary outcomes were length of stay, readmission and complications. Read More

    Cell-free DNA for the detection of fetal aneuploidy.
    Fertil Steril 2018 Feb;109(2):195-200
    Division of Reproductive and Medical Genetics, Department of Obstetrics & Gynecology and Women's Health, Albert Einstein College of Medicine/Montefiore Medical Center, Bronx, New York. Electronic address:
    Screening for fetal aneuploidy via cell-free DNA was described more than two decades ago and has been used clinically by obstetric providers in the United States for more than 5 years. Cell-free DNA affords excellent detection of fetal Down syndrome and other common aneuploidies and thus is sought by patients and providers. However, owing to the source of the DNA and the nature of the screening test, scenarios may arise that require expert counseling about complex issues regarding fetal and maternal health, test interpretation, and management. Read More

    Sirtuins in gamete biology and reproductive physiology: emerging roles and therapeutic potential in female and male infertility.
    Hum Reprod Update 2018 Feb 13. Epub 2018 Feb 13.
    Department of Life, Health and Environmental Sciences, University of L'Aquila, 67100 L'Aquila, Italy.
    Background: Sirtuins (SIRT1-7) are a family of NAD+-dependent deacetylases that catalyze post-translational modifications of proteins. Together, they respond to metabolic challenges, inflammatory signals or hypoxic/oxidative stress, and are associated with aging and longevity. The role of Sirtuins in the regulation of fertility emerged in 2003 when a defective reproductive phenotype was observed in SIRT1-null mice. Read More

    How to Integrate Cell-Free DNA Screening With Sonographic Markers for Aneuploidy: An Update.
    AJR Am J Roentgenol 2018 Feb 15:1-7. Epub 2018 Feb 15.
    2 Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of Utah Health Sciences, Salt Lake City, UT.
    Objective: The sonologist detects a so-called "soft marker" during approximately 10% of routine second-trimester anatomy examinations and is often uncertain about what further management is appropriate. This article will specifically address the management of patients with sonographic markers for six common entities: choroid plexus cysts (CPCs), ventriculomegaly (VM), echogenic intracardiac focus (EIF), urinary tract dilation (UTD), fetal echogenic bowel (FEB), and femoral and humeral shortening. The use of cell-free DNA screening and its relationship to these sonographic findings will be reviewed. Read More

    Plasma and urinary metabolomic profiles of Down syndrome correlate with alteration of mitochondrial metabolism.
    Sci Rep 2018 Feb 14;8(1):2977. Epub 2018 Feb 14.
    Neonatology Unit, St. Orsola-Malpighi Polyclinic, Department of Medical and Surgical Sciences (DIMEC), University of Bologna, Via Massarenti 9, 40138, Bologna, BO, Italy.
    Down syndrome (DS) is caused by the presence of a supernumerary copy of the human chromosome 21 (Hsa21) and is the most frequent genetic cause of intellectual disability (ID). Key traits of DS are the distinctive facies and cognitive impairment. We conducted for the first time an analysis of the Nuclear Magnetic Resonance (NMR)-detectable part of the metabolome in plasma and urine samples, studying 67 subjects with DS and 29 normal subjects as controls selected among DS siblings. Read More

    Multiple anomalies in the origin and course of vertebral arteries and aberrant right subclavian artery in a child with moyamoya syndrome.
    J Neurointerv Surg 2018 Feb 14. Epub 2018 Feb 14.
    UniversitatsSpital Zurich Klinik fur Neuroradiologie, Zurich, Switzerland.
    Here we report, for the first time, a combination of five-vessel aortic arch, anomalous origin of the right vertebral artery (VA) from the common carotid artery (CCA), an aberrant right subclavian artery (SCA), and bilateral symmetrical segmental agenesis of VAs.In this case report, we present a patient with moyamoya syndrome (MMS) and Down syndrome (DS) who has bilateral symmetrical segmental agenesis of VAs, left VA originating from aortic arch and anomalous origin of right VA arising from CCA in combination with an aberrant right SCA. Therefore, five vessels are originating from aortic arch. Read More

    Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.
    PLoS One 2018 14;13(2):e0192635. Epub 2018 Feb 14.
    Department of Biological Sciences, Purdue University, West Lafayette, IN United States of America.
    Lowe syndrome is an X-linked condition characterized by congenital cataracts, neurological abnormalities and kidney malfunction. This lethal disease is caused by mutations in the OCRL1 gene, which encodes for the phosphatidylinositol 5-phosphatase Ocrl1. While in the past decade we witnessed substantial progress in the identification and characterization of LS patient cellular phenotypes, many of these studies have been performed in knocked-down cell lines or patient's cells from accessible cell types such as skin fibroblasts, and not from the organs affected. Read More

    Application of Neural Networks for classification of Patau, Edwards, Down, Turner and Klinefelter Syndrome based on first trimester maternal serum screening data, ultrasonographic findings and patient demographics.
    BMC Med Genomics 2018 Feb 13;11(1):19. Epub 2018 Feb 13.
    Department of Genetics and Bioengineering, International Burch University, Francuske revolucije bb, Ilidza, 71210, Sarajevo, Bosnia and Herzegovina.
    Background: The usage of Artificial Neural Networks (ANNs) for genome-enabled classifications and establishing genome-phenotype correlations have been investigated more extensively over the past few years. The reason for this is that ANNs are good approximates of complex functions, so classification can be performed without the need for explicitly defined input-output model. This engineering tool can be applied for optimization of existing methods for disease/syndrome classification. Read More

    Early and Selective Activation and Subsequent Alterations to the Unfolded Protein Response in Down Syndrome Mouse Models.
    J Alzheimers Dis 2018 ;62(1):347-359
    Sanders-Brown Center on Aging, College of Medicine, University of Kentucky, Lexington, KY, USA.
    Down syndrome (DS) is the most common chromosomal disorder and the leading genetic cause of intellectual disability in humans, which results from the triplication of chromosome 21. DS individuals have an increased risk of developing Alzheimer's disease (AD)-like pathology and dementia by the age of 40 due to the triplication of several genes involved in the formation of amyloid plaques and tau tangles. Further, DS and AD are characterized by the aberrant accumulation of unfolded/misfolded proteins resulting from over-burdened protein quality control systems. Read More

    Down syndrome with posterior cortical atrophy.
    BMJ Case Rep 2018 Feb 8;2018. Epub 2018 Feb 8.
    CHU de Nantes, Service de Médecine Nucléaire, Nantes, France.
    Down syndrome (DS) is caused by trisomy of chromosome 21. The average age of onset of Alzheimer's disease (AD) ranged from 50 to 55 years in DS, with early symptoms usually characterised by changes in behaviour and executive dysfunction. On the other hand, posterior cortical atrophy (PCA) is a rare neurodegenerative syndrome characterised by progressive impairment of visual functions in the absence of visual deficits and a pattern of atrophy involving posterior cortex. Read More

    The bHLH protein Nulp1 is essential for femur development via acting as a cofactor in Wnt signaling in Drosophila.
    Curr Mol Med 2018 Feb 12. Epub 2018 Feb 12.
    The Center for Heart Development, State Key Laboratory of Development Biology, Key Laboratory of MOE for Development Biology and Protein Chemistry, College of Life Sciences, Hunan Normal University, Changsha, Hunan 410081. China.
    The basic helix-loop-helix (bHLH) protein families are a large class of transcription factors, which are associated with cell proliferation, tissue differentiation, and other important development process. We reported that the Nuclear localized protein-1 (Nulp1) might act as a novel bHLH transcriptional factor to mediate cellular functions. However, its role in development in vivo remains unknown. Read More

    Prevalence of celiac disease in patients with Down syndrome: a meta-analysis.
    Oncotarget 2018 Jan 23;9(4):5387-5396. Epub 2017 Dec 23.
    Center on Translational Neuroscience, College of Life and Environmental Sciences, Minzu University of China, Beijing 100081, China.
    Background: The association between Down syndrome and celiac disease has been reported by many studies. However, the prevalence of celiac disease (CD) in Down syndrome (DS) varies considerably across studies (from 0 % to 19 %). The aim of this study was to use meta-analysis to exam the prevalence of CD in patients with DS. Read More

    Triplications of human chromosome 21 orthologous regions in mice result in expansion of megakaryocyte-erythroid progenitors and reduction of granulocyte-macrophage progenitors.
    Oncotarget 2018 Jan 19;9(4):4773-4786. Epub 2017 Dec 19.
    The Children's Guild Foundation Down Syndrome Research Program, Genetics and Genomics Program and Department of Cancer Genetics and Genomics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA.
    Individuals with Down syndrome (DS) frequently have hematopoietic abnormalities, including transient myeloproliferative disorder and acute megakaryoblastic leukemia which are often accompanied by acquired GATA1 mutations that produce a truncated protein, GATA1s. The mouse has been used for modeling DS based on the syntenic conservation between human chromosome 21 (Hsa21) and three regions in the mouse genome located on mouse chromosome 10 (Mmu10), Mmu16 and Mmu17. To assess the impact of the dosage increase of Hsa21 gene orthologs on the hematopoietic system, we characterized the related phenotype in themodel which carries duplications spanning the entire Hsa21 orthologous regions on Mmu10, Mmu16 and Mmu17, and the/+;/+;;model which carries amutation we engineered. Read More

    Lipidomics reveals altered biosynthetic pathways of glycerophospholipids and cell signaling as biomarkers of the polycystic ovary syndrome.
    Oncotarget 2018 Jan 17;9(4):4522-4536. Epub 2017 Dec 17.
    Department of Experimental Medicine, Lleida University-Institute for Research in Biomedicine of Lleida (UdL-IRBLleida), 25198 Lleida, Spain.
    Purpose: In this work, a non-targeted approach was used to unravel changes in the plasma lipidome of PCOS patients. The aim is to offer new insights in PCOS patients strictly selected in order to avoid confounding factors such as dyslipemia, obesity, altered glucose/insulin metabolism, cardiovascular disease, or cancer.

    Results: Multivariate statistics revealed a specific lipidomic signature for PCOS patients without associated pathologies. Read More

    Shuganyin decoction improves the intestinal barrier function in a rat model of irritable bowel syndrome induced by water-avoidance stress.
    Chin Med 2018 1;13. Epub 2018 Feb 1.
    1Department of Gastroenterology, Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, 200032 China.
    Background: To determine the effect of Shuganyin decoction (SGD) on the intestinal barrier function in an irritable bowel syndrome (IBS) rat model induced by water-avoidance stress.

    Methods: Forty male Wistar rats were divided into control, water-avoidance stress (WAS) group, WAS plus Shuganyin decoction (SGD) group and WAS plus dicetel (Dicetel) group. IBS was induced in rats by subjecting them to water-avoidance stress for 7 days. Read More

    DYRK1A inhibition and cognitive rescue in a Down syndrome mouse model are induced by new fluoro-DANDY derivatives.
    Sci Rep 2018 Feb 12;8(1):2859. Epub 2018 Feb 12.
    Institut de Chimie des Substances Naturelles, CNRS UPR 2301, Université Paris-Sud, Université Paris-Saclay, Avenue de la Terrasse, 91198, Gif-sur-Yvette, France.
    Inhibition of DYRK1A kinase, produced by chromosome 21 and consequently overproduced in trisomy 21 subjects, has been suggested as a therapeutic approach to treating the cognitive deficiencies observed in Down syndrome (DS). We now report the synthesis and potent DYRK1A inhibitory activities of fluoro derivatives of 3,5-di(polyhydroxyaryl)-7-azaindoles (F-DANDYs). One of these compounds (3-(4-fluorophenyl)-5-(3,4-dihydroxyphenyl)-1H-pyrrolo[2,3-b]pyridine, 5a) was selected for in vivo studies of cognitive rescuing effects in a standard mouse model of DS (Ts65Dn line). Read More

    Rate of deficit accumulation in home care users with intellectual and developmental disabilities.
    Ann Epidemiol 2018 Jan 31. Epub 2018 Jan 31.
    Department of Health Sciences, Lakehead University, Thunder Bay, Ontario, Canada.
    Purpose: To identify factors associated with the rate of deficit accumulation in a population of adults with intellectual and developmental disabilities (IDD).

    Methods: A longitudinal analysis of administratively held clinical data collected at routine home care assessments across Ontario (Canada) using the Resident Assessment Instrument for Home Care (RAI-HC) was conducted using a cohort comprised of 5074 adults with IDD 18-99 years of age who had at least two home care assessments between April 1, 2003 and March 31, 2015. Rates of deficit accumulation were calculated across variables of interest. Read More

    LncRNA-LET inhibits cell viability, migration and EMT while induces apoptosis by up-regulation of TIMP2 in human granulosa-like tumor cell line KGN.
    Biomed Pharmacother 2018 Feb 9;100:250-256. Epub 2018 Feb 9.
    Department of Obstetrics and Gynecology, Liaocheng People's Hospital, Liaocheng 252000, China.
    Background: Polycystic ovary syndrome (PCOS) is a common endocrine disease characterized by hyperandrogenism, irregular menses, and polycystic ovaries. Several long non-coding RNAs (lncRNAs) are aberrantly expressed in PCOS patients; however, little is known about the effects of the lncRNA-low expression in tumor (lncRNA-LET) on PCOS. We aimed to explore the effects of lncRNA-LET on human granulosa-like tumor cell line, KGN. Read More

    Large animals as potential models of human mental and behavioral disorders.
    Psychiatr Pol 2017 Dec 30;51(6):1009-1027. Epub 2017 Dec 30.
    I Klinika Psychiatrii w Bydgoszczy, Collegium Medicum w Bydgoszczy, Uniwersytet Mikołaja Kopernika w Toruniu.
    Many animal models in different species have been developed for mental and behavioral disorders. This review presents large animals (dog, ovine, swine, horse) as potential models of this disorders. The article was based on the researches that were published in the peer-reviewed journals. Read More

    Prevalence of physical conditions and multimorbidity in a cohort of adults with intellectual disabilities with and without Down syndrome: cross-sectional study.
    BMJ Open 2018 02 5;8(2):e018292. Epub 2018 Feb 5.
    Mental Health and Wellbeing Research Group, Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.
    Objectives: To investigate the prevalence of multimorbidity in adults with intellectual disabilities with and without Down syndrome.

    Design: Large, population-based cross-sectional study.

    Setting: The geographical area of one Health Board, Scotland. Read More

    Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome.
    Am J Hum Genet 2018 Feb 5. Epub 2018 Feb 5.
    Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany. Electronic address:
    Variants affecting the function of different subunits of the BAF chromatin-remodelling complex lead to various neurodevelopmental syndromes, including Coffin-Siris syndrome. Furthermore, variants in proteins containing PHD fingers, motifs recognizing specific histone tail modifications, have been associated with several neurological and developmental-delay disorders. Here, we report eight heterozygous de novo variants (one frameshift, two splice site, and five missense) in the gene encoding the BAF complex subunit double plant homeodomain finger 2 (DPF2). Read More

    Personalized reading intervention for children with Down syndrome.
    J Sch Psychol 2018 Feb 20;66:67-84. Epub 2017 Sep 20.
    Colorado State University, United States.
    The purpose of this replication study was to evaluate the potential efficacy and feasibility of an early reading intervention for children with Down syndrome. The intervention was developed in alignment with the Down syndrome behavioral phenotype. Six children between the ages of seven and ten years participated in a series of multiple-probe across lessons single-case design studies. Read More

    External Auditory Canal Dimensions, Age, and Cerumen Retention or Impaction in Persons With Down Syndrome.
    Ann Otol Rhinol Laryngol 2018 Feb 1:3489418756678. Epub 2018 Feb 1.
    2 Department of Otorhinolaryngology, College of Medicine-Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.
    Objective: To investigate associations between age, external auditory canal (EAC) dimensions, and cerumen retention/impaction among persons with Down syndrome (DS).

    Methods: This cross-sectional study evaluated EAC dimensions, cerumen retention/impaction, and middle ear status with pneumatoscopy after extraction in 130 persons with DS. Descriptive and inferential statistics correlated age, presence of impacted/retained cerumen, and EAC diameter. Read More

    Accommodative Function in Individuals with Autism Spectrum Disorder.
    Optom Vis Sci 2018 Mar;95(3):193-201
    Department of Paediatrics, Northern Health & Social Care Trust, Antrim Northern Ireland, United Kingdom
    Significance: Accommodative responses were significantly poorer in individuals with autism spectrum disorder (ASD) compared with age-matched typically developing control subjects, and hypoaccommodation was associated with reduced near visual acuity (NVA) and convergence.

    Purpose: Autism spectrum disorder is a neurodevelopmental disorder with a reported prevalence of 1.1 to 1. Read More

    Chronic activation profile of circulating CD8+ T cells in Sézary syndrome.
    Oncotarget 2018 Jan 16;9(3):3497-3506. Epub 2017 Dec 16.
    Cutaneous Lymphoma Clinic, Hospital das Clinicas, Department of Dermatology, University of São Paulo Medical School, São Paulo, Brazil.
    Sézary syndrome (SS) is a leukemic variant of cutaneous T cell lymphoma (CTCL), and the neoplastic CD4+ T cells of SS patients undergo intense clonal proliferation. Although Sézary cells have been studied extensively, studies on adaptive immunity regarding CD8+T cells are scarce. This study aimed to investigate activation marker expression in CD8+ T cells according to the differentiation stages and IL-7/IL7Rα axis responses of patients with SS. Read More

    Enhancing the comprehension of visual metaphors in individuals with intellectual disability with or without down syndrome.
    Res Dev Disabil 2018 Mar 3;74:113-123. Epub 2018 Feb 3.
    School of Education, Bar Ilan University, Ramat Gan, Israel; Gonda Multidisciplinary Brain Research Center, Bar Ilan University, Ramat Gan, Israel. Electronic address:
    This study is the first to investigate the effectiveness of deep and shallow intervention programs in the acquisition of visual metaphor comprehension in individuals with non-specific intellectual disability (NSID; aged 15-59, N = 53) or Down syndrome (DS; aged 15-52, N = 50). The deep intervention program was based on dynamic assessment model for enhancing analogical thinking. The shallow intervention program involves memorizing a metaphorical relationship between pairs of pictures. Read More

    Learning and Using Abstract Words: Evidence from Clinical Populations.
    Biomed Res Int 2017 19;2017:8627569. Epub 2017 Dec 19.
    Scientific Institute "IRCCS E. Medea", Bosisio Parini, Lecco, Italy.
    It has been shown that abstract concepts are more difficult to process and are acquired later than concrete concepts. We analysed the percentage of concrete words in the narrative lexicon of individuals with Williams Syndrome (WS) as compared to individuals with Down Syndrome (DS) and typically developing (TD) peers. The cognitive profile of WS is characterized by visual-spatial difficulties, while DS presents with predominant impairments in linguistic abilities. Read More

    Stress Tolerance-Related Genetic Traits of Fish Pathogenin a Mature Biofilm.
    Front Microbiol 2018 23;9:18. Epub 2018 Jan 23.
    Laboratorio de Patología de Organismos Acuáticos y Biotecnología Acuícola, Facultad de Ciencias Biológicas, Universidad Andres Bello, Viña del Mar, Chile.
    is the causative agent of bacterial cold-water disease and rainbow trout fry syndrome, and hence this bacterium is placed among the most important salmonid pathogens in the freshwater aquaculture industry. Since bacteria in biofilms differ substantially from free-living counterparts, this study sought to find the main differences in gene expression between sessile and planktonic states ofLM-02-Fp and NCMB1947, with focus on stress-related changes in gene expression occurring during biofilm formation. To this end, biofilm and planktonic samples were analyzed by RNA sequencing to detect differentially expressed candidate genes (DECGs) between the two growth states, and decreasing the effects of interstrain variation by considering only genes with log-fold changes ≤ -2 and ≥ 2 atadj-values ≤ 0. Read More

    Prenatal microarray analysis in right aortic arch-a retrospective cohort study and review of the literature.
    J Perinatol 2018 Feb 6. Epub 2018 Feb 6.
    Genetics Institute, Carmel Medical Center, Haifa, Israel.
    Objective: To examine the risk for clinically significant chromosomal microarray analysis (CMA) findings in fetal right aortic arch (RAA).

    Methods: Data from all CMA analyses performed owing to isolated RAA reported to the Israeli Ministry of Health between January 2013 and September 2016 were evaluated retrospectively. Risk for abnormal CMA findings was compared with two control populations, based on both previously described 9272 pregnancies with normal ultrasound, and on a local cohort of 5541 pregnancies undergoing CMA testing owing to maternal request. Read More

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