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    Influence of complex childhood diseases on variation in growth and skeletal development.
    Am J Hum Biol 2017 Feb 23. Epub 2017 Feb 23.
    Division of Gastroenterology, Hepatology and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
    The study of human growth and skeletal development by human biologists is framed by the larger theoretical concerns regarding the underpinnings of population variation and human evolution. This unique perspective is directly relevant to the assessment of child health and well-being at the individual and group level, as well as the construction of growth charts. Environmental, behavioral (nutrition and physical activity), and disease-related factors can prevent attainment of full genetic potential for growth. Read More

    Nuclear lamins and progerin are dispensable for antioxidant Nrf2 response to arsenic and cadmium.
    Cell Signal 2017 Feb 14;33:69-78. Epub 2017 Feb 14.
    Department of Biological Sciences, North Carolina State University, Campus Box 7633, Raleigh, NC 27695-7633, United States. Electronic address:
    Lamins are important constituents of the nuclear inner membrane and provide a platform for transcription factors and chromatin. Progerin, a C-terminal truncated lamin A mutant, causes premature aging termed Hutchinson-Gilford Progeria Syndrome (HGPS). Oxidative stress appears to be involved in the pathogenesis of HGPS, although the mechanistic role of progerin remains elusive. Read More

    Characterization of Sleep Architecture in Down Syndrome Patients Pre and Post Airway Surgery.
    Cureus 2017 Jan 17;9(1):e983. Epub 2017 Jan 17.
    Otolaryngology, Children's Hospital of Pittsburgh.
    Objectives: To define obstructive sleep architecture patterns in Down syndrome (DS) children as well as changes to sleep architecture patterns postoperatively.

    Study Design: The study was a retrospective review.

    Methods: Forty-five pediatric DS patients who underwent airway surgery between 2003 and 2014 at a tertiary children's hospital for obstructive sleep apnea (OSA) were investigated. Read More

    Loss of MLH1 sensitizes colon cancer cells to DNA-PKcs inhibitor KU60648.
    Mol Carcinog 2017 Feb 22. Epub 2017 Feb 22.
    Medical Clinic I, Biomedical Research Laboratory, Goethe-University, Frankfurt a.M., Germany.
    Germline mutations of MLH1 are responsible for tumor generation in nearly 50% of patients with Lynch Syndrome, and around 15% of sporadic colorectal cancers show MLH1-deficiency due to promotor hypermethylation. Although these tumors are of lower aggressiveness the benefit for these patients from standard chemotherapy is still under discussion. Recently, it was shown that the sensitivity to the DNA-PKcs inhibitor KU60648 is linked to loss of the MMR protein MSH3. Read More

    Over-expression of miR-196b-5p is significantly associated with the progression of myelodysplastic syndrome.
    Int J Hematol 2017 Feb 21. Epub 2017 Feb 21.
    Hematology Department, First Affiliated Hospital, Guangxi Medical University, ShuangYong Road 6, Nanning, 530021, Guangxi, China.
    Myelodysplastic syndrome (MDS) is a clonal stem cell disorder characterized by ineffective hematopoiesis with a high risk of transformation to acute myeloid leukemia (AML). miRNAs function as tumor suppressors and oncogenes in various cancers and regulate the differentiation potential of hematopoietic stem and progenitor cells (HSPCs). It has been suggested that miRNAs may play an important role in progression of MDS. Read More

    What people with Down Syndrome can teach us about cardiopulmonary disease.
    Eur Respir Rev 2017 Jan 21;26(143). Epub 2017 Feb 21.
    Dept of Bioengineering, University of Colorado Denver, Aurora, CO, USA
    Down syndrome is the most common chromosomal abnormality among live-born infants. Through full or partial trisomy of chromosome 21, Down syndrome is associated with cognitive impairment, congenital malformations (particularly cardiovascular) and dysmorphic features. Immune disturbances in Down syndrome account for an enormous disease burden ranging from quality-of-life issues (autoimmune alopecia) to more serious health issues (autoimmune thyroiditis) and life-threatening issues (leukaemia, respiratory tract infections and pulmonary hypertension). Read More

    Generation and Partial Characterization of Rabbit Monoclonal Antibody to Amyloid-β Peptide 1-37 (Aβ37).
    J Alzheimers Dis 2017 Feb 10. Epub 2017 Feb 10.
    New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, NY, USA.
    Secreted soluble amyloid-β 1-37 (Aβ37) peptide is one of the prominent Aβ forms next to Aβ40, and is found in cerebrospinal fluid (CSF) and blood. Recent studies have shown the importance of quantitation of CSF Aβ37 levels in combination with Aβ38, Aβ40, and Aβ42 to support the diagnosis of patients with probable Alzheimer's disease (AD), and the value of antibody to Aβ37 to facilitate drug discovery studies. However, the availability of reliable and specific monoclonal antibody to Aβ37 is very limited. Read More

    Anomalous White Matter Structure and the Effect of Age in Down Syndrome Patients.
    J Alzheimers Dis 2017 Feb 7. Epub 2017 Feb 7.
    Integrative Pharmacology and Neuroscience Systems Research Group, Hospital del Mar Medical Research Institute, Barcelona, Spain.
    Background: Neural tissue alterations in Down syndrome are fully expressed at relatively late developmental stages. In addition, there is an early presence of neurodegenerative changes in the late life stages.

    Objective: The aims of this study were both to characterize white matter abnormalities in the brain of adult Down syndrome patients using diffusion tensor imaging (DTI) and to investigate whether degenerative alterations in white matter structure are detectable before dementia is clinically evident. Read More

    Incidence of ocular pathologies in Italian children with Down syndrome.
    Eur J Ophthalmol 2007 Sep-Oct;17(1):817-822
    Department of Ophthalmology, University of Napoli Federico II, Napoli - Italy.
    Purpose: This study identifies the incidence of primary ocular pathologies in a population of Italian children with Down syndrome.

    Methods: A total of 157 Italian children with Down syndrome, age between 1 month and 18 years, were screened between February 2005 and October 2006. The ophthalmologic evaluation included a global inspection of orbit and bulbus oculi, evaluation of ocular motility and visual acuity, slit lamp biomicroscopy, cycloplegic skiascopy, tonometry, and indirect ophthalmoscopy. Read More

    Comparative transcriptome and potential antiviral signaling pathways analysis of the gills in the red swamp crayfish, Procambarus clarkii infected with White Spot Syndrome Virus (WSSV).
    Genet Mol Biol 2017 Feb 20. Epub 2017 Feb 20.
    School of Life Science and Technology, Inner Mongolia University of Science and Technology, Baotou, Inner Mongolia Autonomous Region, China.
    Red swamp crayfish is an important model organism for research of the invertebrate innate immunity mechanism. Its excellent disease resistance against bacteria, fungi, and viruses is well-known. However, the antiviral mechanisms of crayfish remain unclear. Read More

    Chimpanzee Down syndrome: a case study of trisomy 22 in a captive chimpanzee.
    Primates 2017 Feb 21. Epub 2017 Feb 21.
    Kumamoto Sanctuary, Wildlife Research Center, Kyoto University, 2-24 Tanaka Sekiden-cho, Sakyo, Kyoto, 606-3201, Japan.
    We report a case of chimpanzee trisomy 22 in a captive-born female. Because chromosome 22 in great apes is homologous to human chromosome 21, the present case is analogous to human trisomy 21, also called Down syndrome. The chimpanzee in the present case experienced retarded growth; infantile cataract and vision problems, including nystagmus, strabismus, and keratoconus; congenital atrial septal defect; and hypodontia. Read More

    Balance and Coordination Capacities of Male Children and Adolescents With Intellectual Disability.
    Adapt Phys Activ Q 2017 Jan;34(1):1-18
    2 Cleveland State University.
    Children and adolescents with intellectual disability (ID) exhibit a mixture of cognitive, motor, and psychosocial limitation. Identifying specific inadequacies in motor proficiency in youth with ID would improve therapeutic management to enhance functional capacity and health-related physical activity. The purpose of this study was to initiate descriptive data collection of gross motor skills of youth with ID and compare those skills with competency norms. Read More

    Increased Sparsity of Hippocampal CA1 Neuronal Ensembles in a Mouse Model of Down Syndrome Assayed by Arc Expression.
    Front Neural Circuits 2017 3;11. Epub 2017 Feb 3.
    Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of MedicineBaltimore, MD, USA; Department of Neurology, Johns Hopkins University School of MedicineBaltimore, MD, USA.
    Down syndrome (DS) is the leading chromosomal cause of intellectual disability, yet the neural substrates of learning and memory deficits remain poorly understood. Here, we interrogate neural networks linked to learning and memory in a well-characterized model of DS, the Ts65Dn mouse. We report that Ts65Dn mice exhibit exploratory behavior that is not different from littermate wild-type (WT) controls yet behavioral activation of Arc mRNA transcription in pyramidal neurons of the CA1 region of the hippocampus is altered in Ts65Dn mice. Read More

    cDNA cloning and expression analysis of a phosphopyruvate hydratase gene from the chinese shrimp Fenneropenaeus chinensis.
    Fish Shellfish Immunol 2017 Feb 13;63:173-180. Epub 2017 Feb 13.
    Key Laboratory for Sustainable Utilization of Marine Fisheries Resources, Ministry of Agriculture, Yellow Sea Fisheries Research Institute, Chinese Academy of Fishery Sciences, 106 Nanjing Road, Qingdao 266071, PR China; Laboratory for Marine Fisheries Science and Food Production Processes, Qingdao National Laboratory for Marine Science and Technology, 1 Wenhai Road, Qingdao 266300, PR China. Electronic address:
    In the present study a cDNA encoding a phosphopyruvate hydratase (enolase) was cloned from the muscle of the Chinese shrimp (Fenneropenaeus chinensis) and named as FcEnolase. The cDNA of FcEnolase encoded a protein of 434 amino acid residues with a molecular mass 47.22 kDa. Read More

    Decreased glucagon-like peptide-1 correlates with abdominal pain in patients with constipation-predominant irritable bowel syndrome.
    Clin Res Hepatol Gastroenterol 2017 Feb 16. Epub 2017 Feb 16.
    Department of Gastroenterology, Dalian friendship Hospital, Dalian, Liaoning 116001, PR China. Electronic address:
    Background And Objective: The glucagon-like peptide-1 (GLP-1) analog, ROSE-010, plays a critical role in alleviating abdominal pain in patients with irritable bowel syndrome (IBS); however, the underling mechanism is unclear. In the present study, we determined the serum GLP-1 level in patients with constipation-predominant IBS (IBS-C). The relationship between GLP-1 and abdominal pain was investigated. Read More

    Chromosome-wise Protein Interaction Patterns and Their Impact on Functional Implications of Large-Scale Genomic Aberrations.
    Cell Syst 2017 Feb 14. Epub 2017 Feb 14.
    Department of Systems Biology, Center for Biological Sequence Analysis, Technical University of Denmark, 2800 Lyngby, Denmark; Novo Nordisk Foundation Center for Protein Research, Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark. Electronic address:
    Gene copy-number changes influence phenotypes through gene-dosage alteration and subsequent changes of protein complex stoichiometry. Human trisomies where gene copy numbers are increased uniformly over entire chromosomes provide generic cases for studying these relationships. In most trisomies, gene and protein level alterations have fatal consequences. Read More

    Short-term treatment with flumazenil restores long-term object memory in a mouse model of Down syndrome.
    Neurobiol Learn Mem 2017 Feb 12;140:11-16. Epub 2017 Feb 12.
    Biology Department, Stanford University, Stanford, CA 94305-5020, USA. Electronic address:
    Down syndrome (DS) is a common genetic cause of intellectual disability yet no pro-cognitive drug therapies are approved for human use. Mechanistic studies in a mouse model of DS (Ts65Dn mice) demonstrate that impaired cognitive function is due to excessive neuronal inhibitory tone. These deficits are normalized by chronic, short-term low doses of GABAA receptor (GABAAR) antagonists in adult animals, but none of the compounds investigated are approved for human use. Read More

    Mitochondria-targeted Esculetin Inhibits PAI-1 Levels by Modulating STAT3 Activation and miR-19b via SIRT3: Role in Acute Coronary Artery Syndrome.
    J Cell Physiol 2017 Feb 18. Epub 2017 Feb 18.
    Centre for Chemical Biology, CSIR-Indian Institute of Chemical Technology, Uppal Road, Hyderabad, 500007, India.
    In this study, we explored the microRNAs responsible for the regulation of PAI-1 during LPS-stimulated inflammation in human aortic endothelial cells, subsequently studied the effect of a newly synthesized mitochondria-targeted esculetin (Mito-Esc) that was shown for its anti-atherosclerotic potential in modulating PAI-1 levels and its targeted miRs during angiotensin-II-induced atherosclerosis in ApoE(-/-) mice. LPS-stimulated PAI-1 was accompanied with an upregulation of miR-19b and down-regulation of miR-30c. These effects of LPS on PAI-1 were reversed in the presence of both parent esculetin and Mito-Esc. Read More

    Quantitative proteomic analysis of human testis reveals system-wide molecular and cellular pathways associated with non-obstructive azoospermia.
    J Proteomics 2017 Feb 14. Epub 2017 Feb 14.
    Department of Molecular Systems Biology at Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran. Electronic address:
    Male infertility accounts for half of the infertility problems experienced by couples. Azoospermia, having no measurable level of sperm in seminal fluid, is one of the known conditions resulting in male infertility. In order to elucidate the complex molecular mechanisms causing male azoospermia, label-free quantitative shotgun proteomics was carried out on testicular tissue specimens from patients with obstructive azoospermia and non-obstructive azoospermia, including maturation arrest (MA) and Sertoli cell only syndrome (SCOS). Read More

    Human astrocytes in the diseased brain.
    Brain Res Bull 2017 Feb 13. Epub 2017 Feb 13.
    Neuroglial Interactions in Cerebral Physiopathology, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR 7241, INSERM U1050, Labex Memolife, PSL Research University, Paris, France. Electronic address:
    Astrocytes are key active elements of the brain that contribute to information processing. They not only provide neurons with metabolic and structural support, but also regulate neurogenesis and brain wiring. Furthermore, astrocytes modulate synaptic activity and plasticity in part by controlling the extracellular space volume, as well as ion and neurotransmitter homeostasis. Read More

    Simulation of Healing Threshold in Strain-Induced Inflammation through a Discrete Informatics Model.
    IEEE J Biomed Health Inform 2017 Feb 15. Epub 2017 Feb 15.
    Respiratory diseases such as asthma and acute respiratory distress syndrome as well as acute lung injury involve inflammation at the cellular level. The inflammation process is very complex and is characterized by the emergence of cytokines along with other changes in cellular processes. Due to the complexity of the various constituents that makes up the inflammation dynamics, it is necessary to develop models that can complement experiments to fully understand inflammatory diseases. Read More

    Regulation of mRNA splicing by MeCP2 via epigenetic modifications in the brain.
    Sci Rep 2017 Feb 17;7:42790. Epub 2017 Feb 17.
    Institute of Neuroscience, Key Laboratory of Primate Neurobiology, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue-Yang Road, Shanghai, 200031, China.
    Mutations of X-linked gene Methyl CpG binding protein 2 (MECP2) are the major causes of Rett syndrome (RTT), a severe neurodevelopmental disorder. Duplications of MECP2-containing genomic segments lead to severe autistic symptoms in human. MECP2-coding protein methyl-CpG-binding protein 2 (MeCP2) is involved in transcription regulation, microRNA processing and mRNA splicing. Read More

    A comparison of the balance and gait function between children with Down syndrome and typically developing children.
    J Phys Ther Sci 2017 Jan 30;29(1):123-127. Epub 2017 Jan 30.
    Department of Physical Therapy, Sahmyook University, Republic of Korea.
    [Purpose] The purpose of this study was to compare the balance and gait functions of children with Down syndrome and typically developing children according to age. [Subjects and Methods] The subjects were 16 children with Down syndrome and 20 children with typical development. The one leg standing test, Romberg's test (open eyes/closed eyes), sharpened Romberg's (open eyes/closed eyes), functional reaching test and GAITRite were used for this study in order to measure the children's balance and gait function. Read More

    Dental development in Down syndrome and healthy children: a comparative study using the Demirjian method.
    Orthod Craniofac Res 2017 Feb 16. Epub 2017 Feb 16.
    Orthodontics, Erasmus MC University Medical Center, Rotterdam, Netherlands.
    Objective: In children with Down syndrome, the timing of dental eruption is important for orthodontics treatment planning. Aim of this study was to determine whether tooth eruption and development of the dentition in children with Down syndrome are impaired.

    Material And Methods: Dental development was scored on orthopantomograms (OPTs) of 95 children with Down syndrome. Read More

    Differential Brain, Cognitive and Motor Profiles Associated with Partial Trisomy. Modeling Down Syndrome in Mice.
    Behav Genet 2017 Feb 15. Epub 2017 Feb 15.
    Aix Marseille University, CNRS, LPC, Marseille, France.
    We hypothesize that the trisomy 21 (Down syndrome) is the additive and interactive outcome of the triple copy of different regions of HSA21. Because of the small number of patients with partial trisomy 21, we addressed the question in the Mouse in which three chromosomal regions located on MMU10, MMU17 and MMU16 carries almost all the HSA21 homologs. Male mice from four segmental trisomic strains covering the D21S17-ETS2 (syntenic to MMU16) were examined with an exhaustive battery of cognitive tests, motor tasks and MRI and compared with TS65Dn that encompasses D21S17-ETS2. Read More

    Epigallocatechin gallate: A useful therapy for cognitive disability in Down syndrome?
    Neurogenesis (Austin) 2017 2;4(1):e1270383. Epub 2017 Feb 2.
    Department of Biomedical and Neuromotor Sciences, University of Bologna , Bologna, Italy.
    Neurodevelopmental alterations and cognitive disability are constant features of Down syndrome (DS), a genetic condition due to triplication of chromosome 21. DYRK1A is one of the triplicated genes that is thought to be strongly involved in brain alterations. Treatment of Dyrk1A transgenic mice with epigallocatechin gallate (EGCG), an inhibitor of DYRK1A, improves cognitive performance, suggesting that EGCG may represent a suitable treatment of DS. Read More

    Cytokine Profiles in Pericardial Effusion in a Down Syndrome Infant with Transient Abnormal Myelopoiesis.
    Tohoku J Exp Med 2017 ;241(2):149-153
    Department of Pediatrics, The University of Tokyo Hospital.
    Infants with Down Syndrome (DS) are at risk of developing a transient abnormal myelopoiesis (TAM). TAM is characterised by increased circulating blast cells but usually self-limiting. DS patients with TAM sometimes show fetal hydrops and effusion in body cavities, but the mechanism remains unclear. Read More

    Folic Acid Deficiency Does Not Adversely Affect Oocyte Meiosis in Mice.
    J Nutr Sci Vitaminol (Tokyo) 2016 ;62(6):375-379
    Department of Nutrition, School of Human Cultures, The University of Shiga Prefecture.
    Spindle defect and chromosome misalignment occuring in oocyte meiosis induce nondisjunction. Nondisjunction causes Down syndrome, also known as trisomy 21. Folic acid (FA) is an essential nutrient composition for fetal growth and development. Read More

    DNA Repair Interacts with Autophagy To Regulate Inflammatory Responses to Pulmonary Hyperoxia.
    J Immunol 2017 Feb 15. Epub 2017 Feb 15.
    Department of Biomedical Sciences, School of Medicine and Health Sciences, University of North Dakota, Grand Forks, ND 58203;
    Oxygen is supplied as a supportive treatment for patients suffering from acute respiratory distress syndrome. Unfortunately, high oxygen concentration increases reactive oxygen species generation, which causes DNA damage and ultimately cell death in the lung. Although 8-oxoguanine-DNA glycosylase (OGG-1) is involved in repairing hyperoxia-mediated DNA damage, the underlying molecular mechanism remains elusive. Read More

    Age-related alterations of the CD19 complex and memory B cells in children with Down syndrome.
    Clin Exp Med 2017 Feb 14. Epub 2017 Feb 14.
    Department of Pediatric Immunology and Allergy, Selcuk University Medical Faculty, Alaeddin Keykubat Kampusu, 42131, Konya, Turkey.
    Children with Down syndrome (DS) have a high incidence of recurrent respiratory tract infections, leukaemia and autoimmune disorders, suggesting immune dysfunction. The present study evaluated the role of the CD19 complex and memory B cells in the pathogenesis of immunodeficiency in children with DS. The expression levels (median fluorescein intensity-MFI) of CD19, CD21 and CD81 molecules on the surface of B cells and memory B cell subsets were studied in 37 patients and 39 healthy controls. Read More

    An RNA-Seq Analysis of Grape Plantlets Grown in vitro Reveals Different Responses to Blue, Green, Red LED Light, and White Fluorescent Light.
    Front Plant Sci 2017 31;8:78. Epub 2017 Jan 31.
    College of Horticulture, Nanjing Agricultural University Nanjing, China.
    Using an RNA sequencing (RNA-seq) approach, we analyzed the differentially expressed genes (DEGs) and physiological behaviors of "Manicure Finger" grape plantlets grown in vitro under white, blue, green, and red light. A total of 670, 1601, and 746 DEGs were identified in plants exposed to blue, green, and red light, respectively, compared to the control (white light). By comparing the gene expression patterns with the growth and physiological responses of the grape plantlets, we were able to link the responses of the plants to light of different spectral wavelengths and the expression of particular sets of genes. Read More

    Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing.
    Clin Chem 2017 Feb 14. Epub 2017 Feb 14.
    Genesky Diagnostics (Suzhou) Inc., Suzhou, Jiangsu, China.
    Background: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure.

    Methods: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs. Read More

    Effective inhibition of MERS-CoV infection by resveratrol.
    BMC Infect Dis 2017 Feb 13;17(1):144. Epub 2017 Feb 13.
    Ph.D. Program in Medical Biotechnology, National Chung Hsing University, Taichung, Taiwan.
    Background: Middle East Respiratory Syndrome coronavirus (MERS-CoV) is an emerging viral pathogen that causes severe morbidity and mortality. Up to date, there is no approved or licensed vaccine or antiviral medicines can be used to treat MERS-CoV-infected patients. Here, we analyzed the antiviral activities of resveratrol, a natural compound found in grape seeds and skin and in red wine, against MERS-CoV infection. Read More

    The Down syndrome brain in the presence and absence of fibrillar β-amyloidosis.
    Neurobiol Aging 2017 Jan 17;53:11-19. Epub 2017 Jan 17.
    German Center for Neurodegenerative Diseases (DZNE), Magdeburg, Germany.
    People with Down syndrome (DS) have a neurodevelopmentally distinct brain and invariably developed amyloid neuropathology by age 50. This cross-sectional study aimed to provide a detailed account of DS brain morphology and the changes occuring with amyloid neuropathology. Forty-six adults with DS underwent structural and amyloid imaging-the latter using Pittsburgh compound B (PIB) to stratify the cohort into PIB-positive (n = 19) and PIB-negative (n = 27). Read More

    Chiropractic management of post spinal cord stimulator spine pain: a case report.
    Chiropr Man Therap 2017 6;25. Epub 2017 Feb 6.
    VA Connecticut Healthcare System, Physical Medicine and Rehabilitation, 950 Campbell Ave, West Haven, CT 06516 USA.
    Background: A brief overview of failed back surgery syndrome, with emphasis on low back pain status post spinal cord stimulation, and post-surgical spinal manipulation is presented.

    Case Presentation: Four cases of patients within the VA Connecticut Health Care System presenting between July 2014 and July 2015 reporting low back pain after surgical insertion of spinal cord stimulators are discussed. This study describes the outcomes experienced by four patients with low back pain status post implanted spinal cord stimulators receiving manual therapy in the form of lumbar spine manipulation or mobilization. Read More

    The lectin self of complement factor H.
    Curr Opin Struct Biol 2017 Feb 9;44:111-118. Epub 2017 Feb 9.
    Interfaculty Institute of Biochemistry (IFIB), University of Tübingen, Hoppe-Seyler-Strasse 4, D-72076 Tübingen, Germany. Electronic address:
    Complement, a part of the humoral innate immune system, is divided into three pathways. The classical and mannose-binding lectin pathways are triggered by specific recognition of foreign targets. Conversely, the alternative pathway (AP) is actively down-regulated on host tissue. Read More

    Clashes of consensus: on the problem of both justifying abortion of fetuses with Down syndrome and rejecting infanticide.
    Theor Med Bioeth 2017 Feb 10. Epub 2017 Feb 10.
    Department of Political Science, University of Gothenburg, Gothenburg, Sweden.
    Although the abortion of fetuses with Down syndrome has become commonplace, infanticide is still widely rejected. Generally, there are three ways of justifying the differentiation between abortion and infanticide: by referring to the differences between the moral status of the fetus versus the infant, by referring to the differences of the moral status of the act of abortion versus the act of infanticide, or by separating the way the permissibility of abortion is justified from the way the impermissibility of infanticide is justified. My argument is that none of these ways justifies the abortion of fetuses diagnosed with Down syndrome while simultaneously rejecting infanticide. Read More

    Overexpression of mitochondrial oxodicarboxylate carrier (ODC1) preserves oxidative phosphorylation in a yeast model of the Barth syndrome.
    Dis Model Mech 2017 Feb 10. Epub 2017 Feb 10.
    Université de Bordeaux, Institut de Biochimie et Génétique Cellulaires, CNRS UMR 5095, 1 rue Camille Saint-Saëns, 33077 Bordeaux cedex, France
    Cardiolipin (CL) is a diglycerol phospholipid mostly found in mitochondria where it optimizes numerous processes including oxidative phosphorylation (OXPHOS). To function properly CL needs to be unsaturated, which requires the acyltransferase tafazzin. Loss-of-function mutations in this protein are responsible for the Barth syndrome (BTHS), presumably because of a diminished OXPHOS capacity. Read More

    Language comprehension in children, adolescents, and adults with Down syndrome.
    Res Dev Disabil 2017 Feb 7;62:184-196. Epub 2017 Feb 7.
    Department of Special Education and Rehabilitation, University of Cologne, Cologne, Germany.
    Background: There is conflicting evidence as to whether receptive language abilities of individuals with Down syndrome (DS) continue to improve into adulthood, reach a plateau in late adolescence, or even start to decline.

    Aim: The study aims to shed light on the question whether receptive syntactic skills change from childhood/adolescence to adulthood and provides a detailed qualitative analysis of the receptive abilities of adults with DS.

    Methods: 58 individuals with DS participated in the study: 31 children/adolescents (aged: 4;6-19;0 years) and 27 adults (aged: 20;8-40;3 years). Read More

    [Prenatal diagnosis of a case with 46,XX,del(4),dup(21)].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2017 Feb;34(1):50-52
    Center of Prenatal Diagnosis, Peking University People's Hospital, Beijing 100044, China.
    Objective: To investigate the genetic cause and prognosis of a fetus with a rare karyotype.

    Methods: Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus. Read More

    Sedation methods for transthoracic echocardiography in children with Trisomy 21-a retrospective study.
    Paediatr Anaesth 2017 Feb 8. Epub 2017 Feb 8.
    Department of Anesthesiology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.
    Background: Many children with Trisomy 21 have neurologic or behavioral problems that make it difficult for them to remain still during noninvasive imaging studies, such as transthoracic echocardiograms (TTEcho). Recently, intranasal dexmedetomidine sedation has been introduced for this purpose. However, dexmedetomidine has been associated with bradycardia. Read More

    Altered molecular signature of intestinal microbiota in irritable bowel syndrome patients compared with healthy controls: A systematic review and meta-analysis.
    Dig Liver Dis 2017 Jan 21. Epub 2017 Jan 21.
    Department of Gastroenterology, Zhongshan Hospital of Fudan University, Shanghai, China. Electronic address:
    Background: Many studies have reported significant changes in intestinal microbiota in irritable bowel syndrome (IBS) patients based on quantitative real-time PCR analysis.

    Aims: We aimed to review the alterations in intestinal microbiota.

    Methods: An online search up to June 9, 2016, was conducted. Read More

    Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.
    Sci Rep 2017 Feb 8;7:40935. Epub 2017 Feb 8.
    Beijing Institute of Dental Research, Beijing Stomatological Hospital, Capital Medical University, Beijing, China.
    Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. Read More

    Visual characteristics of children with Down syndrome.
    Jpn J Ophthalmol 2017 Feb 7. Epub 2017 Feb 7.
    Heiwa Eye Clinic, 1-7-7 Ikebukuro, Toshima-ku, Tokyo, 170-0014, Japan.
    Purpose: To analyze long-term visual development in children with Down syndrome who received early ophthalmological intervention.

    Methods: A total of 125 children with Down syndrome who were examined before 6 years of age and followed up for more than 5 years were selected. Visual development, refraction, visual acuity testing, and the prescription of spectacles were examined retrospectively. Read More

    Morphological and ultrasonographic study of fetuses with cervical hygroma. A cases series.
    Rom J Morphol Embryol 2016 ;57(4):1421-1427
    Department of Obstetrics and Gynecology, University Emergency Hospital, Bucharest; Department of Obstetrics, Gynecology and Neonatology, "Carol Davila" University of Medicine and Pharmacy, Bucharest, Romania;
    Cystic cervical hygroma or cervical cystic lymphangioma is a congenital benign disease of the lymphatic system that is characterized by the accumulation of lymph in the jugular lymphatic sacs of the nuchal region. The factor that causes this pathology is not clarified yet but the physiopathological mechanism seems to be multifactorial. The incidence and prevalence of cervical hygroma are increased in patients with Turner syndrome, Down syndrome, Klinefelter syndrome, Edwards syndrome, Patau syndrome, Noonan syndrome, pterygium syndrome, Cantrell pentalogy, Fryns syndrome, Apert syndrome, Pena-Shokeir syndrome and achondroplasia. Read More

    AMKL chimeric transcription factors are potent inducers of leukemia.
    Leukemia 2017 Feb 8. Epub 2017 Feb 8.
    Department of Oncology, St Jude Children's Research Hospital, Memphis, TN, USA.
    Acute megakaryoblastic leukemia in patients without Down syndrome is a rare malignancy with a poor prognosis. RNA sequencing of fourteen pediatric cases previously identified novel fusion transcripts that are predicted to be pathologic including CBFA2T3-GLIS2, GATA2-HOXA9, MN1-FLI, and NIPBL-HOXB9. In contrast to CBFA2T3-GLIS2 which is insufficient to induce leukemia, we demonstrate that the introduction of GATA2-HOXA9, MN1-FLI1 or NIPBL-HOXB9 into murine bone marrow induces overt disease in syngeneic transplant models. Read More

    Influence of prenatal EGCG treatment and Dyrk1a dosage reduction on craniofacial features associated with Down syndrome.
    Hum Mol Genet 2016 Nov;25(22):4856-4869
    Department of Biology, Indiana University-Purdue University Indianapolis, 723 W. Michigan Street, SL306, Indianapolis, IN 46202, USA.

    Descriptive study of the complete blood count in newborn infants with down syndrome.
    Am J Med Genet A 2017 Feb 7. Epub 2017 Feb 7.
    Department of Molecular Biology and Genomics, Dr. Enrique Corona-Rivera Institute of Human Genetics, University of Guadalajara, Health Sciences University Center, Guadalajara, Jalisco, México.
    The usefulness of the complete blood count (CBC) during the first week of life in infants with Down syndrome (DS) has been recognized; however, studies are limited and have evaluated only some of the parameters of the CBC. Here, we report a prospective study of 135 infants with cytogenetically confirmed DS and a reference group of 226 infants without birth defects all born during the period 2009-2015 at the Dr. Juan I. Read More

    Obesity, cardiovascular disease, and role of vitamin C on inflammation: a review of facts and underlying mechanisms.
    Inflammopharmacology 2017 Feb 6. Epub 2017 Feb 6.
    Department of Nutrition and Dietetics, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia (UPM), Serdang, Selangor, Malaysia.
    Obesity means the accumulation of excessive fat that may interfere with the maintenance of optimal state of health. Obesity causes cardiac and vascular disease through well-known mediators such as hypertension, type-2 diabetes mellitus, and dyslipidemia, but there are evidences for other mediators such as chronic inflammation, oxidative stress, and thrombosis. The decreased levels of antioxidants factors and nitric oxide predispose to further cardiovascular adverse events. Read More

    Intranasal fluticasone associated with delayed tympanostomy tube placement in children with eustachian tube dysfunction.
    Int J Pediatr Otorhinolaryngol 2017 Mar 21;94:121-126. Epub 2017 Jan 21.
    Division of Head and Neck Surgery & Communication Sciences, Department of Surgery, Duke University Medical Center, Durham, NC, USA.
    Objectives: Pediatric patient caregivers may prefer to avoid a surgical intervention and request a medical management option for eustachian tube dysfunction (ETD). However, there are limited published data evaluating the efficacy of intranasal fluticasone in the medical management of ETD as an alternative to tympanostomy tube placement. The objectives of this study were to: 1) determine if intranasal fluticasone (INF) prevented tympanostomy tube placement in children with ETD, and 2) describe differences in patient response to INF related to cleft lip and/or palate (CLP) and Down syndrome. Read More

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