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    The burden of trisomy 21 disrupts the proteostasis network in Down syndrome.
    PLoS One 2017 21;12(4):e0176307. Epub 2017 Apr 21.
    Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado, Aurora, CO, United States of America.
    Down syndrome (DS) is a genetic disorder caused by trisomy of chromosome 21. Abnormalities in chromosome number have the potential to lead to disruption of the proteostasis network (PN) and accumulation of misfolded proteins. DS individuals suffer from several comorbidities, and we hypothesized that disruption of proteostasis could contribute to the observed pathology and decreased cell viability in DS. Read More

    A Comprehensive Diverse '-omics' Approach to Better Understanding the Molecular Pathomechanisms of Down Syndrome.
    Brain Sci 2017 Apr 21;7(4). Epub 2017 Apr 21.
    Department of Pathological Biochemistry, Division of Pathological Science, Kyoto Pharmaceutical University, 5 Misasagi Nakauchi-cho, Ymashina-ku, Kyoto 607-8414, Japan.
    Diverse '-omics' technologies permit the comprehensive quantitative profiling of a variety of biological molecules. Comparative '-omics' analyses, such as transcriptomics and proteomics, are powerful and useful tools for unraveling the molecular pathomechanisms of various diseases. As enhanced oxidative stress has been demonstrated in humans and mice with Down syndrome (DS), a redox proteomic analysis is useful for understanding how enhanced oxidative stress aggravates the state of individuals with oxidative stress-related disorders. Read More

    cfDNA screening performance: accounting for and reducing test failures.
    Ultrasound Obstet Gynecol 2017 Apr 21. Epub 2017 Apr 21.
    Department of Obstetrics and Gynecology, Columbia University Medical Center, New York, NY, USA.
    Over several decades antenatal screening for Down's syndrome steadily evolved from the initial concept of a single second trimester maternal serum marker to complex protocols involving the combination of multiple serum and fetal ultrasound markers, determined within-trimester or sequentially across-trimesters. Read More

    Collagen beta (1- O ) galactosyltransferase 1(GLT25D1)is required for the secretion of high molecular weight adiponectin and affects lipid accumulation.
    Biosci Rep 2017 Apr 20. Epub 2017 Apr 20.
    Faculty of Medicine and Biomedical Sciences, The University of Queensland, Endocrinology, School of Biomedical Sciences, The University of Queensland, BRISBANE, QLD 4072, United States.
    Secretion of high molecular weight (HMW) adiponectin is dependent on post-translational modification (PTM) of conserved lysines in the collagenous domain. This work aims to characterize the enzymes responsible for the PTM of conserved lysines which leads to HMW adiponectin secretion, and to define its significance in relation to obesity.  Collagen beta (1- O ) galactosyltransferase 1 (GLT25D1) was knocked down in HEK cells modified for the stable expression of adiponectin (Adipo-HEK cells) as well as in Simpson Golabi-Behmel-Syndrome (SGBS) adipocytes. Read More

    Adherence to continuous positive airway pressure in adults with an intellectual disability.
    Sleep Med 2017 Mar 30. Epub 2017 Mar 30.
    Sleep Medicine Center Kempenhaeghe, Heeze, The Netherlands. Electronic address:
    Study Objectives: This retrospective study evaluated the feasibility of continuous positive airway pressure (CPAP) therapy in adults with intellectual disabilities (ID).

    Methods: CPAP therapy of 24 obstructive sleep apnea syndrome (OSA) patients with ID were compared to age- and sex-matched adults with normal cognitive functioning. All ID patients received an intensive in-hospital training protocol to stimulate adherence. Read More

    Performing corneal crosslinking under local anaesthesia in patients with Down syndrome.
    Int Ophthalmol 2017 Apr 19. Epub 2017 Apr 19.
    Utrecht Cornea Research Group, Department of Ophthalmology, University Medical Center Utrecht, HP E03.136, Heidelberglaan 100, 3508 GX, Utrecht, The Netherlands.
    Purpose: To report on the ability to perform corneal crosslinking (CXL) under local anaesthesia for the treatment of keratoconus in patients with Down syndrome.

    Methods: Nine eyes of seven patients with both keratoconus and Down syndrome were scheduled for an epithelium-off CXL procedure under local anaesthesia. Exclusion criteria were a corneal thickness under 400 µm and the presence of corneal scars. Read More

    Certainty of genuine treatment increases drug responses among intellectually disabled patients.
    Neurology 2017 Apr 19. Epub 2017 Apr 19.
    From the Department of Clinical Neuroscience (K.B.J., M.P., A.R.), Karolinska Institute, Sweden; Program in Placebo Studies (I.K., T.J.K.), BIDMC, Harvard Medical School; Department of Psychiatry (K.Y., R.L.G.), Massachusetts General Hospital, Boston; Institut des Sciences Cognitives (V.d.P., A.C.), Bron; Université Claude Bernard Lyon 1 (V.d.P., A.C.); Centre de Référence Déficiences Intellectuelles de Causes Rares (V.d.P., A.C.), Hôpital Femmes Mères Enfants, Hospices Civils de Lyon; and EPICIME-CIC1407/INSERM (A.C.), Bron, France.
    Objective: To determine the placebo component of treatment responses in patients with intellectual disability (ID).

    Methods: A statistical meta-analysis comparing bias-corrected effect sizes (Hedges g) of drug responses in open-label vs placebo-controlled clinical trials was performed, as these trial types represent different certainty of receiving genuine treatment (100% vs 50%). Studies in fragile X, Down, Prader-Willi, and Williams syndrome published before June 2015 were considered. Read More

    Acute Respiratory Distress Syndrome Incidence, But Not Mortality, Has Decreased Nationwide: A National Trauma Data Bank Study.
    Am Surg 2017 Apr;83(4):323-331
    Acute respiratory distress syndrome (ARDS) incidence is reported to have decreased in recent years. However, no large-scale study to date has exclusively examined ARDS in the critically injured. We sought to examine the national incidence of ARDS and its associated outcomes exclusively in adult trauma patients. Read More

    Systematic review and meta-analysis shows a specific micronutrient profile in people with Down Syndrome: Lower blood calcium, selenium and zinc, higher red blood cell copper and zinc, and higher salivary calcium and sodium.
    PLoS One 2017 19;12(4):e0175437. Epub 2017 Apr 19.
    Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
    Different metabolic profiles as well as comorbidities are common in people with Down Syndrome (DS). Therefore it is relevant to know whether micronutrient levels in people with DS are also different. This systematic review was designed to review the literature on micronutrient levels in people with DS compared to age and sex-matched controls without DS. Read More

    Use of a Modified Classic BT Shunt in a Patient With Multiple Conduit Obstructions With Positive Lupus Anticoagulant.
    World J Pediatr Congenit Heart Surg 2017 Jan 1:2150135116688180. Epub 2017 Jan 1.
    1 Department Of Pediatrics, Children's Medical Center, University of Texas Southwestern Medical School, Dallas, TX, USA.
    The use of a right ventricle-to-pulmonary artery conduit has re-emerged as a popular alternative to a systemic artery-to-pulmonary artery shunt in the Norwood procedure. Both proximal obstruction secondary to dynamic compression and distal obstruction at the anastomosis site with the pulmonary arteries are well described. In an effort to prevent complications, a technique where in the conduit is placed through the entire full thickness, or dunked, through the RV free wall has been described. Read More

    Corrigendum to "First trimester combined test for Down syndrome screening in unselected pregnancies - A report of a 13-year experience" [Taiwan J Obstet Gynecol 52 (4) (2013) 523-526].
    Taiwan J Obstet Gynecol 2017 Apr;56(2):272
    Department of Obstetrics and Gynecology, Cathay General Hospital, Taipei, Taiwan; School of Medicine, Fu Jen Catholic University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address:

    Fragile X syndrome: a review of clinical and molecular diagnoses.
    Ital J Pediatr 2017 Apr 19;43(1):39. Epub 2017 Apr 19.
    Pediatric Clinic, Department of Surgical and Biomedical Sciences, Università degli Studi di Perugia, Piazza Lucio Severi 1, Loc. S. Andrea delle Fratte, 06132, Perugia, Italy.
    Background: Fragile X Syndrome (FXS) is the second cause of intellectual disability after Down syndrome and the most prevalent cause of intellectual disability in males, affecting 1:5000-7000 men and 1:4000-6000 women. It is caused by an alteration of the FMR1 gene, which maps at the Xq27.3 band: more than 99% of individuals have a CGG expansion (>200 triplets) in the 5' UTR of the gene, and FMR1 mutations and duplication/deletion are responsible for the remaining (<1%) molecular diagnoses of FXS. Read More

    In search of quality indicators for Down syndrome healthcare: a scoping review.
    BMC Health Serv Res 2017 Apr 18;17(1):284. Epub 2017 Apr 18.
    Tranzo, Scientific Center for Care and Welfare, Faculty of Social and Behavioural Sciences, Tilburg University, PO Box 90153 (T-329), 5000 LE, Tilburg, The Netherlands.
    Background: The medical care chain around Down syndrome (DS) is complex, with many multidisciplinary challenges. The current quality of care is unknown. Outcome-oriented quality indicators have the potential to improve medical practice and evaluate whether innovations are successful. Read More

    Nuchal translucency measurement, free β-hCG and PAPP-A concentrations in IVF/ICSI pregnancies: systematic review and meta-analysis.
    Prenat Diagn 2017 Apr 17. Epub 2017 Apr 17.
    Fondazione IRCCS Cà Granda, Dipartimento Materno-Infantile Clinica Ostetrico Ginecologica, Ospedale Maggiore Policlinico, Università degli Studi di Milano, Milan, Italy.
    So far data on the effect of assisted reproductive technologies (ART) on the components of first trimester combined screening for Down syndrome are still controversial. A systematic search of the literature was performed in order to identify the effect of ART, particularly IVF and ICSI with fresh embryo transfer, on the nuchal translucency (NT), free β-hCG and PAPP-A measurements. Moreover, a meta-analysis and a descriptive graphical representation of the ratios between ART and spontaneous pregnancies (controls) values of median of the multiple of median (m0MOM) was performed. Read More

    Antepartum management and obstetric outcomes among pregnancies with Down syndrome from diagnosis to delivery.
    Prenat Diagn 2017 Apr 17. Epub 2017 Apr 17.
    Division of Maternal Fetal Medicine, Obstetrics and Gynecology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
    Objective: Little is known about the obstetric care of an ongoing pregnancy with trisomy 21. We sought to ascertain an obstetric profile for pregnancies with Down syndrome to help guide antenatal management.

    Method: Pregnancies managed for delivery with trisomy 21 between 2003 and 2014 were analyzed. Read More

    Desmoid-type fibromatosis in a boy with Down syndrome.
    Pediatr Int 2017 Apr 18. Epub 2017 Apr 18.
    Department of Pediatrics, Okayama University Hospital, Okayama, Japan.
    Patients with Down syndrome (DS) have a markedly higher incidence of childhood leukemia, but a lower incidence of most solid tumors, compared with age-matched euploid individuals. Trisomy 21 might be protective against tumorigenesis because of several tumor suppressive mechanisms. Desmoid-type fibromatosis (DF) is a rare monoclonal, fibroblastic proliferation characterized by a variable clinical course. Read More

    A kinase-independent role for CDK19 in p53 response.
    Mol Cell Biol 2017 Apr 17. Epub 2017 Apr 17.
    Dept. of Chemistry & Biochemistry, University of Colorado, Boulder, CO 80303, USA.
    The human Mediator complex regulates RNA Polymerase II transcription genome-wide. A general factor that regulates Mediator function is the four-subunit kinase module, which contains either CDK8 or CDK19. Whereas CDK8 is linked to specific signaling cascades and oncogenesis, the cellular roles of its paralog, CDK19, are poorly studied. Read More

    The ET-1-mediated carbonylation and degradation of ANXA1 induce inflammatory phenotype and proliferation of pulmonary artery smooth muscle cells in HPS.
    PLoS One 2017 17;12(4):e0175443. Epub 2017 Apr 17.
    Department of Laboratory Medicine, Southwest Hospital, Third Military Medical University, Chongqing, China.
    Hepatopulmonary syndrome (HPS) is a serious complication of advanced liver disease, which markedly increases mortality. Pulmonary vascular remodelling (PVR) induced by circulating mediators plays an important role in the pathogenesis of HPS, while the underlying mechanism remains undefined. In the present study, we reported that endothelin-1 (ET-1) is up-regulated and annexin A1(ANXA1) is down-regulated in HPS rat, and ET-1 decreases the ANXA1 expression in a dose-dependent manner in rat pulmonary arterial smooth muscle cells (PASMCs). Read More

    Cerebrospinal fluid biomarkers for Alzheimer's disease in Down syndrome.
    Alzheimers Dement (Amst) 2017 20;8:1-10. Epub 2017 Mar 20.
    Department of Neurology and Alzheimer Research Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
    Down syndrome (DS), present in nearly six million people, is associated with an extremely high risk to develop Alzheimer's disease (AD). Amyloid-β and tau pathology are omnipresent from age 40 years onward, but clinical symptoms do not appear in all DS individuals. Dementia diagnostics is complex in this population, illustrating the great need for predictive biomarkers. Read More

    New hPSC-based human models to study pediatric Acute Megakaryoblastic Leukemia harboring the fusion oncogene RBM15-MKL1.
    Stem Cell Res 2017 Mar 19;19:1-5. Epub 2016 Dec 19.
    Gene Regulation, Stem Cells and Development Group, Department of Genomic Oncology, GENYO-Centre for Genomics and Oncological Research-Pfizer/University of Granada/Junta de Andalucía, PTS Granada, 18016 Granada, Spain. Electronic address:
    Pediatric Acute Megakaryoblastic Leukemia not associated to Down Syndrome (non-DS AMKL) is a rare disease with a dismal prognosis. Around 15% of patients carry the chromosomal translocation t(1;22) that originates the fusion oncogene RBM15-MKL1, which is linked to an earlier disease onset (median of 6months of age) and arises in utero. Here we report the generation of two hPSC cell lines constitutively expressing the oncogene RBM15-MKL1, resulting in an increased expression of known RBM15-MKL1 gene targets. Read More

    Proteomic Profile of Serum of Pregnant Women Carring a Fetus with down Syndrome Using Nano UPLC Q-TOF MS/MS Technology.
    J Matern Fetal Neonatal Med 2017 Apr 16:1-21. Epub 2017 Apr 16.
    a Departamento de Genética, Facultad de Medicina , Hospital Universitario, Universidad Autónoma de Nuevo León , Monterrey , México.
    Introduction: Prenatal diagnosis of Down syndrome (DS) is based on the calculated risk of maternal age, biochemical and ultrasonographic markers and recently by cfDNA. Differences in proteomic profiles may give an opportunity to find new biomarkers.

    Objective: Characterize proteome of serum of mothers carrying DS fetus. Read More

    Self-injury and aggression in adults with tuberous sclerosis complex: Frequency, associated person characteristics, and implications for assessment.
    Res Dev Disabil 2017 Apr 12;64:119-130. Epub 2017 Apr 12.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Edgbaston, Birmingham, B15 2TT, UK. Electronic address:
    Even though self-injury and aggression are common in tuberous sclerosis complex (TSC), understanding of these behaviours in adults with TSC and intellectual disability (ID) is limited. Little is known about their frequency in comparison to other ID-related genetic disorders or their association with other TSC-Associated Neuropsychiatric Disorders (TAND). This study determined the caregiver-reported frequency of self-injury and aggression in adults with TSC plus ID in comparison to Down syndrome (DS) and Angelman syndrome (AS), and assessed demographic and behavioural characteristics associated with the occurrence of each behaviour in TSC. Read More

    Comparison of bioelectrical impedance and DXA for measuring body composition among adults with Down syndrome.
    Disabil Health J 2017 Mar 22. Epub 2017 Mar 22.
    Department of Kinesiology, University of Alabama, USA; Department of Kinesiology, Auburn University at Montgomery, USA.
    Background: Individuals with Down syndrome (DS) have been shown to display high levels of adiposity and a unique body shape. Laboratory methods used to evaluate body composition might be too cumbersome for this special population. Therefore, field methods are desired due to their non-invasive nature. Read More

    Short-term motor learning through non-immersive virtual reality task in individuals with down syndrome.
    BMC Neurol 2017 Apr 14;17(1):71. Epub 2017 Apr 14.
    School of Public Health, University of São Paulo, São Paulo, Brazil.
    Background: Down syndrome (DS) has unique physical, motor and cognitive characteristics. Despite cognitive and motor difficulties, there is a possibility of intervention based on the knowledge of motor learning. However, it is important to study the motor learning process in individuals with DS during a virtual reality task to justify the use of virtual reality to organize intervention programs. Read More

    Purification of leukemic blast cells from blood smears using laser microdissection.
    Int J Hematol 2017 Apr 13. Epub 2017 Apr 13.
    Department of Human Health Sciences, Graduate School of Medicine, Kyoto University, 53 Kawahara-cho, Syogoin, Sakyoku, Kyoto, 606-8507, Japan.
    In treatment of acute myeloid leukemia (AML), prognostic factors, including gene mutation and abnormal gene expression, enable risk stratification of patients. However, in the case of a small proportion of leukemic blast cells, such as AML associated with Down syndrome (AML-DS), it is not possible to examine prognostic factors precisely due to the large proportion of normal cells. Here, we present a novel method for examining prognostic factors by making a smear on a membrane slide glass from a small amount of diagnostic specimen and collecting highly pure leukemic blast cells by laser microdissection (LMD). Read More

    Severe dengue due to secondary hemophagocytic lymphohistiocytosis: A case study.
    IDCases 2017 30;8:50-53. Epub 2017 Mar 30.
    Apollo Gleneagles Hospitals, 58, Canal Circular Road, Kolkata 70054, West Bengal, India.
    Dengue, transmitted by the mosquito Aedes aegypti affects millions of people worldwide every year. Dengue induced hemophagocytic lymphohistiocytosis (HLH) is a serious condition and may prove fatal if not detected early and treated appropriately. Diagnosis of HLH is challenging and usually missed as clinical and laboratory findings are nonspecific. Read More

    Isolated mild sleep-associated hypoventilation in children with Down syndrome.
    Arch Dis Child 2017 Apr 13. Epub 2017 Apr 13.
    Division of Respiratory Diseases, Boston Children's Hospital, Boston, Massachusetts, USA
    Introduction: Children with Down syndrome (DS) have a high incidence of obstructive sleep apnea (OSA) that is often associated with hypoventilation. Little is known, however, about the prevalence of sleep-associated hypoventilation independent of OSA in these children.

    Methods: Retrospective chart review of all children with DS under 18 years of age undergoing polysomnography at a tertiary care paediatric hospital during a 2-year period. Read More

    Counting Ability in Down Syndrome: The Comprehension of the One-to-One Correspondence Principle and the Role of Receptive Vocabulary.
    Neuropsychology 2017 Apr 13. Epub 2017 Apr 13.
    Objective: The authors investigated whether children with Down's syndrome (DS) who have not started to produce number words understand the one-to-one correspondence principle (Experiment 1), and they looked at the relationship between number word knowledge and receptive vocabulary (Experiment 2).

    Method: Sixteen children with DS who did not recite the count list participated in Experiment 1, along with 2 comparison groups: 1 of 16 children with DS who recited up to 10, paired by chronological age, and another of 16 typically developing children paired by their ability to recite the list. The understanding of the principle was evaluated by a preferential looking task. Read More

    The efficacy of an association of palmitoylethanolamide and alpha-lipoic acid in patients with chronic prostatitis/chronic pelvic pain syndrome: A randomized clinical trial.
    Arch Ital Urol Androl 2017 Mar 31;89(1):17-21. Epub 2017 Mar 31.
    Policlinico Morgagni, Catania.
    Background: Chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) is a complex condition, characterized by uncertain etiology and by limited response to therapy. The definition of CP/CPPS includes genitourinary pain with or without voiding symptoms in the absence of uropathogenic bacteria, as detected by standard microbiological methods, or another identifiable cause such as malignancy. The efficacy of various medical therapies, has been evaluated in clinical studies, but evidence is lacking or conflicting. Read More

    An ELISA DYRK1A non-radioactive kinase assay suitable for the characterization of inhibitors.
    F1000Res 2017 13;6:42. Epub 2017 Jan 13.
    Molecular Biology Department, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY, USA.
    The DYRK1A (dual specificity tyrosine phosphorylation-regulated kinase 1A) gene encodes a proline-directed Ser/Thr kinase. Elevated expression and/or altered distribution of the kinase have been implicated in the neurological impairments associated with Down syndrome (DS) and Alzheimer's disease (AD). Consequently, DYRK1A inhibition has been of significant interest as a potential strategy for therapeutic intervention of DS and AD. Read More

    Resolution of liver disease in transient abnormal myelopoiesis with fish oil emulsion.
    Pediatr Int 2017 Apr;59(4):515-518
    Division of Surgery, Department of Surgical Specialties, National Center for Child Health and Development, Tokyo, Japan.
    Neonates with Down syndrome are at risk of developing transient abnormal myelopoiesis (TAM), which is characterized by transient clonal myeloproliferation of the blast cells. TAM can resolve spontaneously, but some patients die at an early age due to organ failure. Liver fibrosis in TAM is a life-threatening condition, but treatment options have not yet been established. Read More

    Therapy reduction in patients with Down Syndrome Myeloid Leukemia: The international ML-DS 2006 trial.
    Blood 2017 Apr 11. Epub 2017 Apr 11.
    Department of Pediatric Hematology and Oncology, Hannover Medical School, Germany;
    Children with Down syndrome and myeloid leukemia (ML-DS) have a superior outcome compared to non-DS patients, but suffer from higher constitutional susceptibility to cytotoxic drugs. We analyzed the outcome of 170 pediatric patients with ML-DS enrolled in the prospective, multi-center, open-label, non-randomized ML-DS 2006 trial, by the NOPHO, DCOG and AML-BFM study groups. In comparison to the historical control arm (reduced intensity protocol for ML-DS patients from the AML-BFM 98 trial) treatment intensity was reduced by lowering the cumulative dose of etoposide (950 mg/m(2) to 450 mg/m(2)) and intrathecal CNS-prophylaxis while omitting maintenance therapy. Read More

    The effect of adenotonsillectomy on obstructive sleep apnea in children with Down syndrome().
    Acta Otolaryngol 2017 Apr 11:1-8. Epub 2017 Apr 11.
    b Department of Otolaryngology, Faculty of Medicine , Beni Suef University , Beni Suef , Egypt.
    Objective: Children with Down syndrome (DS) are liable to develop obstructive sleep apnea (OSA) due to many anatomical airway abnormalities. The tonsils and adenoid occupy part of the airway space, and their removal may be helpful in relieving airway obstruction. The aim of this study was to assess the effectiveness of adenotonsillectomy in the treatment of OSA in those children. Read More

    Collagenoma in a Patient With Down Syndrome: A Case Report and Review of the Literature.
    Am J Dermatopathol 2017 Mar 16. Epub 2017 Mar 16.
    Departments of *Radiology, and †Pathology, Ewha Womans University School of Medicine, Seoul, Korea.
    A 26-year-old woman with Down syndrome presented with a 4-cm-sized palpable mass in the sacrococcygeal region. Histologic evaluation of the specimen revealed densely packed collagen fibers in the dermis, which is consistent with a collagenoma. Masson trichrome staining showed dense fibrosis, and elastic Van Gieson staining revealed a significant decrease in elastic tissue. Read More

    Electroencephalographic Evidence of Altered Top-Down Attentional Modulation in Fibromyalgia Patients During a Working Memory Task.
    Brain Topogr 2017 Apr 10. Epub 2017 Apr 10.
    Department of Clinical Psychology and Psychobiology, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
    Fibromyalgia (FM) is a chronic syndrome involving widespread pain of unclear pathophysiology. FM patients frequently complain about cognitive symptoms that interfere with their daily life activities. Several studies have reported attentional deficits and working memory impairment in FM patients. Read More

    Delay in Human Neutrophil Constitutive Apoptosis after Infection with Klebsiella pneumoniae Serotype K1.
    Front Cell Infect Microbiol 2017 27;7:87. Epub 2017 Mar 27.
    Division of Infectious Diseases, Department of Internal Medicine, Kaohsiung Chang Gung Memorial HospitalKaohsiung, Taiwan; Chang Gung University College of MedicineKaohsiung, Taiwan.
    Klebsiella pneumoniae serotype K1 is a major cause of invasive syndrome defined by liver abscess with metastatic infections at other body sites. This culprit is known to be resistant to neutrophil phagocytosis and bactericidal activity. We hypothesized that K. Read More

    A Pair of Maternal Chromosomes Derived from Meiotic Nondisjunction in Trisomy 21 Affects Nuclear Architecture and Transcriptional Regulation.
    Sci Rep 2017 Apr 10;7(1):764. Epub 2017 Apr 10.
    Department of Pediatrics, Graduate School of Medicine, Osaka University, Suita, Osaka, 565-0871, Japan.
    Eukaryotic genomes are organised into complex higher-order structures within the nucleus, and the three-dimensional arrangement of chromosomes is functionally important for global gene regulation. The existence of supernumerary chromosome 21 in Down syndrome may perturb the nuclear architecture at different levels, which is normally optimised to maintain the physiological balance of gene expression. However, it has not been clearly elucidated whether and how aberrant configuration of chromosomes affects gene activities. Read More

    [Rising infant mortality in down syndrome in Chile from 1997 to 2013].
    Rev Med Chil 2016 Nov;144(11):1432-1439
    División de Obstetricia y Ginecología, Unidad de Medicina Basada en la Evidencia, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
    Background: Down syndrome (DS) is associated with higher child mortality especially due to cardiac malformations.

    Aim: To describe the trend in Chilean infant mortality in DS in the period 1997-2013 as compared to the general population without DS.

    Material And Methods: Raw data on infant deaths were extracted from the yearbooks of vital statistics of the National Institute of Statistics. Read More

    Precursors to language development in typically and atypically developing infants and toddlers: the importance of embracing complexity.
    J Child Lang 2017 May 10;44(3):591-627. Epub 2017 Apr 10.
    Centre for Brain & Cognitive Development,Birkbeck,University of London,London,UK, andLondon Down Syndrome Consortium,University College London,London,UK.
    In order to understand how language abilities emerge in typically and atypically developing infants and toddlers, it is important to embrace complexity in development. In this paper, we describe evidence that early language development is an experience-dependent process, shaped by diverse, interconnected, interdependent developmental mechanisms, processes, and abilities (e.g. Read More

    Difficulty in obtaining the complete mRNA coding sequence at 5' region (5' end mRNA artifact): Causes, consequences in biology and medicine and possible solutions for obtaining the actual amino acid sequence of proteins (Review).
    Int J Mol Med 2017 May 6;39(5):1063-1071. Epub 2017 Apr 6.
    Department of Experimental, Diagnostic and Specialty Medicine (DIMES), Unit of Histology, Embryology and Applied Biology, University of Bologna, I‑40126 Bologna, Italy.
    The known difficulty in obtaining the actual full length, complete sequence of a messenger RNA (mRNA) may lead to the erroneous determination of its coding sequence at the 5' region (5' end mRNA artifact), and consequently to the wrong assignment of the translation start codon, leading to the inaccurate prediction of the encoded polypeptide at its amino terminus. Among the known human genes whose study was affected by this artifact, we can include disco interacting protein 2 homolog A (DIP2A; KIAA0184), Down syndrome critical region 1 (DSCR1), SON DNA binding protein (SON), trefoil factor 3 (TFF3) and URB1 ribosome biogenesis 1 homolog (URB1; KIAA0539) on chromosome 21, as well as receptor for activated C kinase 1 (RACK1, also known as GNB2L1), glutaminyl‑tRNA synthetase (QARS) and tyrosyl-DNA phosphodiesterase 2 (TDP2) along with another 474 loci, including interleukin 16 (IL16). In this review, we discuss the causes of this issue, its quantitative incidence in biomedical research, the consequences in biology and medicine, and the possible solutions for obtaining the actual amino acid sequence of proteins in the post-genomics era. Read More

    Find the Hidden Object. Understanding Play in Psychological Assessments.
    Front Psychol 2017 24;8:323. Epub 2017 Mar 24.
    Institute of Criminal Justice Studies, University of Portsmouth Portsmouth, UK.
    Standardized psychological assessments are extensively used by practitioners to determine rate and level of development in different domains of ability in both typical and atypical children. The younger the children, the more likely the trials will resemble play activities. However, mode of administration, timing and use of objects involved are constrained. Read More

    A two scale modeling and computational framework for vibration-induced Raynaud syndrome.
    J Mech Behav Biomed Mater 2017 Mar 28;71:320-328. Epub 2017 Mar 28.
    CNRS, LEMTA, UMR 7563, Université de Lorraine, 2, Avenue de la forêt de Haye, BP 90161, 54505 Vandoeuvre-lès-Nancy, France. Electronic address:
    Hand-Arm Vibration syndrome (HAVS), usually caused by long-term use of hand-held power tools, can in certain manifestations alter the peripheral blood circulation in the hand-arm region. HAVS typically occurs after exposure to cold, causing an abnormally strong vasoconstriction of blood vessels. A pathoanatomical mechanism suggests that a reduction of the lumen of the blood vessels in VWF (Vibration White Finger) subjects, due to either hypertrophy or thickening of the vessel wall, may be at the origin of the disease. Read More

    Antenatal prognostic factor of fetal echogenic bowel.
    Eur J Obstet Gynecol Reprod Biol 2017 Mar 3;212:166-170. Epub 2017 Mar 3.
    Department of Gynecology and Obstetrics, Pole femme enfant, Marseille, Hôpital Nord, Assistance Publique-Hôpitaux de Marseille, AMU, Aix-Marseille Université and A*MIDEX «CREER» (n° ANR-11-IDEX-0001-02), France; Aix-Marseille Université, Unité de Recherche sur les Maladies Infectieuses Tropicales et Emergentes, UM63, CNRS 7278, IRD 198, INSERM 1095, Marseille, France; Center for Prenatal Diagnosis, Timone Children's Hospital, Assistance Publique Hopitaux de Marseille, Aix-Marseille Université, INSERM, GMGF UMR_S 910, 13385 Marseille, France.
    Objective: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB).

    Study Design: A retrospective study in three tertiary referral centers including fetal echogenic bowel over a 10-year period (from January 2003 to December 2013). The echogenicity of the fetal bowel was graded from 1 to 3, according to Slotnick's definition. Read More

    Extracorporeal CO2 removal by hemodialysis: in vitro model and feasibility.
    Intensive Care Med Exp 2017 Dec 7;5(1):20. Epub 2017 Apr 7.
    Department of Chemical Engineering, University of Pittsburgh, Pittsburgh, PA, USA.
    Background: Critically ill patients with acute respiratory distress syndrome and acute exacerbations of chronic obstructive pulmonary disease often develop hypercapnia and require mechanical ventilation. Extracorporeal carbon dioxide removal can manage hypercarbia by removing carbon dioxide directly from the bloodstream. Respiratory hemodialysis uses traditional hemodialysis to remove CO2 from the blood, mainly as bicarbonate. Read More

    Improved outcomes for myeloid leukemia of Down syndrome: a report from the Children's Oncology Group AAML0431 trial.
    Blood 2017 Apr 7. Epub 2017 Apr 7.
    Division of Hematology/Oncology, Children's Mercy Hospitals and Clinics, Kansas City, MO, United States.
    Patients with myeloid leukemia of Down syndrome (ML-DS) have a favorable event-free survival (EFS), but experience significant treatment-related morbidity and mortality. ML-DS blast cells ex vivo have increased sensitivity to cytarabine (araC) and daunorubicin, suggesting that optimizing drug dosing may improve outcomes while reducing toxicity. The Children's Oncology Group (COG) AAML0431 trial consisted of 4 cycles of Induction and 2 cycles of Intensification therapy based on the treatment schema of the previous COG A2971 trial with several modifications. Read More

    Training spatial-simultaneous working memory in individuals with Down syndrome.
    Res Dev Disabil 2017 Apr 4;64:118. Epub 2017 Apr 4.
    Department of Developmental Psychology and Socialization, University of Padova, Italy.
    Recent studies have suggested that the spatial-simultaneous component of working memory (WM), which is involved when stimuli are presented simultaneously, is selectively impaired in individuals with Down syndrome (DS). The main objective of the present study was to examine whether WM performance can be enhanced in individuals with DS by analyzing the immediate and maintenance effects of a training program. For this purpose, 61 individuals with DS were randomly assigned to three groups: one trained on simultaneous components of visuospatial WM; one serving as an active control group, that completed activities on vocabulary; and one serving as a passive control group, that only attended the pre- and post-test and follow-up assessments. Read More

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