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    Blinatumomab activity in a patient with Down syndrome B-precursor acute lymphoblastic leukemia.
    Pediatr Blood Cancer 2017 Sep 17. Epub 2017 Sep 17.
    Division of Hematology/Oncology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.
    Persistent minimal residual disease (MRD) after consolidation may indicate chemotherapy insensitivity in B-precursor acute lymphoblastic leukemia (BP-ALL). Given the strong association of MRD and outcome in non-Down syndrome (non-DS) BP-ALL, it is likely that MRD levels are also of prognostic significance in DS BP-ALL. We report here the successful use of blinatumomab, a bispecific T-cell engager antibody construct, in a patient with DS BP-ALL and persistent MRD at the end of consolidation. Read More

    Down syndrome maternal serum markers in oocyte donation and other assisted reproductive technologies.
    Prenat Diagn 2017 Sep 16. Epub 2017 Sep 16.
    Gynécologie-Obstétrique et Médecine de la Reproduction, Hôpital Antoine Béclère, AP-HP, Université Paris Sud, 92140, Clamart, France.
    Objective: Because maternal serum markers (PAPP-A, hCGβ, and AFP) used for Down syndrome (DS) screening have been described as predictors of obstetrical complications and because assisted reproductive technology (ART) pregnancies are known to be at increased risk for obstetrical complications, it is unclear whether or not correction factors should be applied to the calculated risk of DS. The purpose of this study was to evaluate DS maternal serum markers in oocyte donation (OD) and ART pregnancies in comparison with natural pregnancies.

    Method: Multicenter retrospective 2010-2013 study, in singleton pregnancies. Read More

    Psychological Support for Young Adults with Down Syndrome: Dohsa-Hou Program for Maladaptive Behaviors and Internalizing Problems.
    Front Psychol 2017 1;8:1504. Epub 2017 Sep 1.
    Department of Special Needs Education, Oita UniversityOita, Japan.
    Psychological and psychiatric dysfunction is a major problem in a substantial proportion of young adults with Down syndrome. Some patients develop psychiatric issues, such as depressive, obsessive-compulsive, or psychotic-like disorders, in their late adolescence or young adulthood. Furthermore, these individuals may experience moderate to severe emotional and psychological distress. Read More

    Alcohol exposure induces chick craniofacial bone defects by negatively affecting cranial neural crest development.
    Toxicol Lett 2017 Sep 14. Epub 2017 Sep 14.
    Key Laboratory for Regenerative Medicine of the Ministry of Education, Division of Histology & Embryology, Medical College, Jinan University, Guangzhou 510632, China. Electronic address:
    Excess alcohol consumption during pregnancy could lead to fetal alcohol syndrome (FAS). However, the molecular mechanism leading to craniofacial abnormality, a feature of FAS, is still poorly understood. The cranial neural crest cells (NCCs) contribute to the formation of the craniofacial bones. Read More

    A population-based description of familial clustering of Hirschsprung's disease.
    J Pediatr Surg 2017 Sep 1. Epub 2017 Sep 1.
    Division of Pediatric Surgery, Primary Children's Hospital, University of Utah, Salt Lake City, UT 84113, USA. Electronic address:
    Background: Familial recurrence of Hirschsprung's disease (HSCR) is well documented, and risk estimates for relatives have been reported from various populations. We describe the familial clustering of HSCR cases using well-established unbiased familial aggregation techniques within the context of a population genealogy.

    Methods: Patients included 264 HSCR cases identified using ICD-9 diagnosis coding from the two largest healthcare providers in Utah who also had linked genealogy data. Read More

    Craniospinal germinomas in a patient with Down syndrome successfully treated with standard-dose chemotherapy and craniospinal irradiation: A case report and literature review.
    World Neurosurg 2017 Sep 12. Epub 2017 Sep 12.
    Department of Neuro-Oncology/Neurosurgery, Saitama Medical University International Medical Center, Hidaka, Saitama, Japan.
    Background: Patients with Down syndrome (DS) are more likely to develop chemotherapy-related complications. The standard treatment for these patients with cancers has not yet been established, and the risks of standard chemotherapy are unclear. In this paper, a rare case of multiple craniospinal germinomas in a patient with DS, which was successfully treated with standard-dose chemotherapy combined with craniospinal irradiation is reported. Read More

    Signaling of the Complement Cleavage Product Anaphylatoxin C5a Through C5aR (CD88) Contributes to Pharmacological Hematopoietic Stem Cell Mobilization.
    Stem Cell Rev 2017 Sep 16. Epub 2017 Sep 16.
    Stem Cell Institute at James Graham Brown Cancer Center, University of Louisville, 500 S. Floyd Street, Rm. 107, Louisville, KY, 40202, USA.
    Several mechanisms have been postulated for orchestrating the mobilization of hematopoietic stem/progenitor cells (HSPCs), and we previously proposed that activation of the complement cascade plays a crucial role in the initiation and execution of the egress of HSPCs from bone marrow (BM) into peripheral blood (PB). In support of this notion, we demonstrated that mice deficient in the mannan-binding lectin (MBL) pathway, which activates the proximal part of the complement cascade, as well as mice deficient in the fifth component of the complement cascade (C5), which is part of the distal part of the complement cascade, are poor mobilizers. To further narrow down on the exact mechanisms and the molecules involved, we performed studies in mice that do not express the receptor C5aR, which binds the C5 cleavage fragments, C5a and C5adesArg. Read More

    Otolaryngologic management of Down syndrome patients: what is new?
    Curr Opin Otolaryngol Head Neck Surg 2017 Sep 14. Epub 2017 Sep 14.
    aBaylor College of Medicine, Otolaryngology and Head and Neck Surgery bPediatric Otolaryngology and Head and Neck Surgery, Texas Children's Hospital, Houston, Texas, USA.
    Purpose Of Review: The management of children with Down syndrome as it pertains to the otolaryngologist continues to evolve. Obstructive sleep apnea (OSA) has dominated the recent literature, but other topics including hearing loss, swallowing, and perioperative considerations are also reported.

    Recent Findings: The prevalence of OSA in children with Down syndrome ranges from 57 to 73% in certain cohorts, and, whereas adentonsillectomy can decrease Apnea-Hypopnea Index, up to 80% may have persistent OSA. Read More

    Prenatal diagnosis of pectus excavatum.
    Turk J Obstet Gynecol 2016 Sep 15;13(3):158-160. Epub 2016 Sep 15.
    Çukurova University Faculty of Medicine, Department of Obstetrics and Gynecology, Adana, Turkey.
    Pectus excavatum (PE) is the depression of the lower part of manubrium sterni and xiphoid process. The main problem of PE depends on the cardiopulmonary morbidity caused by the narrowing of the thoracic space. To date, prenatal diagnosis of this deformity has been reported only once and was associated with Down syndrome. Read More

    A unique set of complex chromosomal abnormalities in an infant with myeloid leukemia associated with Down syndrome.
    Mol Cytogenet 2017 11;10:35. Epub 2017 Sep 11.
    Cytogenetic Laboratory, Bone Marrow Transplantation Center, National Cancer Institute (INCA), Praça Cruz Vermelha no. 23, 6° andar. Centro, CEP, Rio de Janeiro, RJ 20230-130 Brazil.
    Background: Children with Down syndrome (DS) have an enhanced risk of developing acute leukemia, with the most common subtype being acute megakaryoblastic leukemia (AMKL). Myeloid leukemia in Down syndrome (ML-DS) is considered a disease with distinct clinical and biological features. There are few studies focusing on the clonal cytogenetic changes during evolution of ML-DS. Read More

    Prevalence trends of selected major birth defects: A multi-state population-based retrospective study, United States, 1999 to 2007.
    Birth Defects Res 2017 Sep 14. Epub 2017 Sep 14.
    University of South Florida, Tampa, Florida.
    Background: We evaluated selected birth defects over a 9-year period to assess prevalence trends by selected maternal and infant factors.

    Methods: Data were pooled from 11 population-based birth defects surveillance programs in the United States for children born between 1999 and 2007. Overall prevalence, as well as 3-year interval prevalence, was calculated for 26 specific birth defects, stratified by maternal age, maternal race/ethnicity, and infant sex. Read More

    Foot Structure in Boys with Down Syndrome.
    Biomed Res Int 2017 21;2017:7047468. Epub 2017 Aug 21.
    Institute of Biomedical Sciences, Faculty of Physical Education and Sport, University of Physical Education in Krakow, 78th Jan Pawel II Avenue, 31-571 Krakow, Poland.
    Introduction And Aim: Down syndrome (DS) is associated with numerous developmental abnormalities, some of which cause dysfunctions of the posture and the locomotor system. The analysis of selected features of the foot structure in boys with DS versus their peers without developmental disorders is done.

    Materials And Methods: The podoscopic examination was performed on 30 boys with DS aged 14-15 years. Read More

    Role of Serpine Gene Polymorphism in Recurrent Implantation Failure and Preeclampsia.
    J Hum Reprod Sci 2017 Apr-Jun;10(2):135-137
    Department of Obstetrics and Gynaecology, Saveetha Medical College, Saveetha University, Chennai, Tamil Nadu, India.
    This is a rare case of serpine gene polymorphism causing thrombophilia and recurrent implantation failure following intrauterine insemination. SERPINE1 gene encodes plasminogen activator inhibitor type 1 and inhibits fibrinolysis, or clot dissolution. The 4G variant results in increased expression of SERPINE1 and consequently higher inhibition of fibrinolysis, thus leading to thrombophilia. Read More

    Current Surgical Outcomes of Congenital Heart Surgery for Patients With Down Syndrome in Japan.
    Circ J 2017 Sep 12. Epub 2017 Sep 12.
    The Japan Cardiovascular Surgery Database Organization.
    Background: Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear.Methods and Results:Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared. Read More

    Identification of a core TP53 transcriptional program with highly distributed tumor suppressive activity.
    Genome Res 2017 Sep 13. Epub 2017 Sep 13.
    Linda Crnic Institute for Down Syndrome, University of Colorado Anschutz Medical Campus, Aurora, Colorado 80045, USA.
    The tumor suppressor TP53 is the most frequently mutated gene product in human cancer. Close to half of all solid tumors carry inactivating mutations in the TP53 gene, while in the remaining cases, TP53 activity is abrogated by other oncogenic events, such as hyperactivation of its endogenous repressors MDM2 or MDM4. Despite identification of hundreds of genes regulated by this transcription factor, it remains unclear which direct target genes and downstream pathways are essential for the tumor suppressive function of TP53. Read More

    Epidermal growth factor receptor-mutant lung cancer in Down syndrome: a case presentation and review of the literature.
    Oncotarget 2017 Aug 25;8(33):55760-55765. Epub 2017 Apr 25.
    Department of Medical Oncology, Guangdong General Hospital & Guangdong Academy of Medical Sciences, Guangzhou, China.
    Background: Solid tumors have a markedly decreased incidence in individuals with Down syndrome (DS), including lung cancers.

    Methods: The clinical presentation of epidermal growth factor receptor (EGFR)-mutant non-small-cell lung cancer (NSCLC) in DS was reported and literature on the subject reviewed.

    Results: In individuals with DS, the risk of lung cancer appears markedly lower. Read More

    Physical activity and bone mineral density at the femoral neck subregions in adolescents with Down syndrome.
    J Pediatr Endocrinol Metab 2017 Sep 13. Epub 2017 Sep 13.
    Background: Low bone mineral density (BMD) has been frequently described in subjects with Down syndrome (DS). Reduced physical activity (PA) levels may contribute to low BMD in this population. The objective of the study was to investigate whether PA levels were related to the femoral neck bone mass distribution in a sample of 14 males and 12 females with DS aged 12-18 years. Read More

    Evaluation of Metabolic Syndrome and Related Factors in Children Affected by Acute Lymphoblastic Leukemia.
    Indian J Med Paediatr Oncol 2017 Apr-Jun;38(2):97-102
    Department of Pediatrics, Division of Pediatric Endocrinology, Shiraz University of Medical Sciences, Shiraz, Iran.
    Introduction: Obesity is among the medical problems in survivors of childhood acute lymphoblastic leukemia (ALL). These patients are at risk of metabolic syndrome (MS). The present study aimed to follow the patients with ALL regarding the incidence of MS. Read More

    Activity-dependent dysfunction in visual and olfactory sensory systems in mouse models of Down syndrome.
    J Neurosci 2017 Sep 12. Epub 2017 Sep 12.
    MassGeneral Institute for Neurodegenerative Disease, Neurology, Massachusetts General Hospital, 114 16 St., Charlestown, MA 02129.
    Activity-dependent synaptic plasticity plays a critical role in the refinement of circuitry during postnatal development and may be disrupted in conditions that cause intellectual disability such as Down syndrome (DS). To test this hypothesis, visual cortical plasticity was assessed in Ts65Dn mice that harbor a chromosomal duplication syntenic to human chromosome 21q. We find that Ts65Dn mice demonstrate a defect in ocular dominance plasticity (ODP) following monocular deprivation. Read More

    Proteomic analysis of the secretome of porcine alveolar macrophages infected with porcine reproductive and respiratory syndrome virus.
    Proteomics 2017 Sep 12. Epub 2017 Sep 12.
    Shanghai Veterinary Research Institute, Chinese Academy of Agricultural Science, Shanghai, PR China.
    Porcine reproductive and respiratory syndrome virus (PRRSV) causes porcine reproductive and respiratory syndrome, which is characterized by reproductive failure and respiratory disorders. The secretome of PRRSV-infected porcine alveolar macrophages (PAMs), which are the primary target cells of PRRSV, was analyzed by label-free quantitative proteomics to gain a profile of proteins secreted during PRRSV infection. A total of 95 secreted proteins with differentially expressed levels between PRRSV- and mock-infected PAMs was screened. Read More

    Sleep Disorders in Childhood Neurogenetic Disorders.
    Children (Basel) 2017 Sep 12;4(9). Epub 2017 Sep 12.
    Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
    enetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as "rare disease," but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy. Read More

    Polysomnography in Pediatric Otolaryngology: If Not Obstructive Sleep Apnea, What Is It?
    Otolaryngol Head Neck Surg 2017 Sep 1:194599817726977. Epub 2017 Sep 1.
    1 Division of Pediatric Otolaryngology-Head and Neck Surgery, Cincinnati Children's Hospital Medical, Center, Cincinnati, Ohio, USA.
    Objective To determine common polysomnographic (PSG) diagnoses for children referred by otolaryngologists. Study Design Retrospective case series with chart review. Setting Single tertiary pediatric hospital (2010-2015). Read More

    Palivizumab Prophylaxis Against Respiratory Syncytial Virus Infection in Children with Immunocompromised Conditions or Down Syndrome: A Multicenter, Post-Marketing Surveillance in Japan.
    Paediatr Drugs 2017 Sep 11. Epub 2017 Sep 11.
    AbbVie GK, Mita 3-5-27, Minato-ku, Tokyo, 108-6302, Japan.
    Objective: The aim of this study was to assess the safety and effectiveness of palivizumab for the prevention of lower respiratory tract infection (LRI) caused by respiratory syncytial virus (RSV) in children with immunocompromised conditions or Down syndrome.

    Methods: In this multicenter, post-marketing surveillance study (December 2013 to December 2015), children aged ≤24 months with immunocompromised conditions or Down syndrome (without hemodynamically significant congenital heart disease) receiving palivizumab immunoprophylaxis during two RSV seasons were observed until 30 days after the final palivizumab injection. Safety [adverse events (AEs), serious AEs (SAEs), adverse drug reactions (ADRs), serious ADRs (SADRs)] and effectiveness (frequency, incidence, and duration of hospitalization due to RSV infections) were assessed. Read More

    [Renal abnormalities in Down syndrome: A review].
    Arch Pediatr 2017 Sep 8. Epub 2017 Sep 8.
    Centre de référence des maladies rénales rares néphrogones, hôpital Femme-Mère-Enfant de Lyon, 59, boulevard Pinel, 69677 Bron cedex, France; Université Claude-Bernard-Lyon 1, 8, avenue Rockefeller, 69008 Lyon, France.
    Down syndrome (DS) is often associated with cardiac malformations, so that kidney damage is little known. The objective of this study was to present the diversity of renal abnormalities and their potential progression to chronic renal failure. Among congenital abnormalities of the kidney and urinary tract (CAKUT) abnormalities appear to be frequent: pyelectasis, megaureters, posterior urethra valves, as well as renal malformations such as renal hypoplasia, horseshoe kidney, or renal ectopia. Read More

    Itolizumab in the Management of Psoriasis with Metabolic Syndrome.
    J Clin Diagn Res 2017 Jul 1;11(7):WD01-WD02. Epub 2017 Jul 1.
    Senior Consultant, Department of Dermatology, Lilavati Hospital and Research Center, Bandra Reclamation, Bandra (W), Mumbai, Maharashtra, India.
    Psoriasis is a chronic, relapsing, inflammatory disease that has been associated with Metabolic Syndrome (MS), a cluster of cardiovascular risk factors mainly hypertension, obesity, diabetes mellitus and hyperlipidemia. A 49-year-old male patient presented with extensive plaque psoriasis from past 13 years. Past medications included methotrexate, PUVA therapy, topical immunosuppressants and corticosteroids. Read More

    Pediatric Obstructive Sleep Apnea in High-Risk Populations: Clinical Implications.
    Pediatr Ann 2017 Sep;46(9):e336-e339
    Certain common medical conditions are associated with a higher risk of pediatric obstructive sleep apnea (OSA). A lower threshold for screening is therefore indicated for such patient cohorts. In this article, we briefly discuss the high prevalence of OSA in children born prematurely, and in those with Down syndrome, craniofacial disorders, and neuromuscular disorders. Read More

    Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?
    Prenat Diagn 2017 Sep 11. Epub 2017 Sep 11.
    North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
    Objectives: To assess rates of informed choice among women offered NIPT for aneuploidy as part of routine clinical care.

    Methods: A cross-sectional survey was conducted across six antenatal clinics in England. Women with a high risk (≥1/150) Down syndrome screening result were offered NIPT, invasive testing or no further testing. Read More

    The adverse effects of perinatal exposure to nonylphenol on carbohydrate metabolism in male offspring rats.
    Int J Environ Health Res 2017 Sep 11:1-9. Epub 2017 Sep 11.
    a School of Public Health , Zunyi Medical University , Zunyi , P.R. China.
    Background: We sought to investigate the adverse effects of perinatal exposure to nonylphenol (NP) on carbohydrate metabolism of male offspring rats.

    Methods: Thirty-two healthy pregnant Sprague Dawley rats were randomly divided into four groups, control normal diet group (C), NP normal diet group (NPN), control high-energy diet group (CH), and NP high-energy diet group (NPH). Both of the control groups were received a gavage of corn oil and the NP-groups were received NP (200 mg/kg/day) from gestational days 6 to post-natal day (PND) 21. Read More

    An experimental study of executive function and social impairment in Cornelia de Lange syndrome.
    J Neurodev Disord 2017 Sep 11;9(1):33. Epub 2017 Sep 11.
    Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, B15 2TT, Edgbaston, UK.
    Background: Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented. In this study, we develop and apply an experimental assessment of social anxiety in a group of adolescents and adults with CdLS to determine the nature of the social difficulties and whether they are related to impairments in executive functioning.

    Methods: A familiar and unfamiliar examiner separately engaged in socially demanding tasks comprising three experimental conditions with a group of individuals with CdLS (n = 25; % male = 44; mean age = 22. Read More

    Celiac disease in Saudi children. Evaluation of clinical features and diagnosis.
    Saudi Med J 2017 Sep;38(9):895-899
    Department of Pediatric, College of Medicine, King Saud University Medical City, Riyadh. Kingdom of Saudi Arabia. E-mail:.
     Objectives: To characterize the clinical presentations and diagnosis including serological tests and histopathological findings in children with celiac disease. Methods: All children (less than 18 years) with confirmed celiac disease diagnosed over a 6 year period at a private tertiary care health care center in Riyadh,  Saudi Arabia were studied retrospectively. Information collected included demographics, clinical presentation and diagnostic modalities with serology and small intestinal histology reported by Marsh grading. Read More

    Glial overexpression of Dube3a causes seizures and synaptic impairments in Drosophila concomitant with down regulation of the Na(+)/K(+) pump ATPα.
    Neurobiol Dis 2017 Sep 6;108:238-248. Epub 2017 Sep 6.
    Department of Neurology, UTHSC, Memphis, TN, United States; Department of Anatomy and Neurobiology, UTHSC, Memphis, TN, United States; Department of Pediatrics, UTHSC, Memphis, TN, United States. Electronic address:
    Duplication 15q syndrome (Dup15q) is an autism-associated disorder co-incident with high rates of pediatric epilepsy. Additional copies of the E3 ubiquitin ligase UBE3A are thought to cause Dup15q phenotypes, yet models overexpressing UBE3A in neurons have not recapitulated the epilepsy phenotype. We show that Drosophila endogenously expresses Dube3a (fly UBE3A homolog) in glial cells and neurons, prompting an investigation into the consequences of glial Dube3a overexpression. Read More

    Pupil response and attention skills in Down syndrome.
    Res Dev Disabil 2017 Sep 6;70:40-49. Epub 2017 Sep 6.
    Laboratorio de Psicolingüística, Facultad de Psicología, Universidad Nacional Autónoma de México, Mexico. Electronic address:
    Down syndrome (DS) is characterized by attentional problems. Little is known about the neural correlates of attention problems in DS due to difficulties in evaluation. Pupil dilation, associated with an increase in cognitive load and locus coeruleus-noradrenaline system activity in humans, is a neurophysiological measurement that may help to characterize such problems. Read More

    2017 Focused Update of the 2016 ACC Expert Consensus Decision Pathway on the Role of Non-Statin Therapies for LDL-Cholesterol Lowering in the Management of Atherosclerotic Cardiovascular Disease Risk: A Report of the American College of Cardiology Task Force on Expert Consensus Decision Pathways.
    J Am Coll Cardiol 2017 Aug 30. Epub 2017 Aug 30.
    In 2016, the American College of Cardiology published the first expert consensus decision pathway (ECDP) on the role of non-statin therapies for low-density lipoprotein (LDL)-cholesterol lowering in the management of atherosclerotic cardiovascular disease (ASCVD) risk. Since the publication of that document, additional evidence and perspectives have emerged from randomized clinical trials and other sources, particularly considering the longer-term efficacy and safety of proprotein convertase subtilisin/kexin 9 (PCSK9) inhibitors in secondary prevention of ASCVD. Most notably, the FOURIER (Further Cardiovascular Outcomes Research with PCSK9 Inhibition in Subjects with Elevated Risk) trial and SPIRE-1 and -2 (Studies of PCSK9 Inhibition and the Reduction of Vascular Events), assessing evolocumab and bococizumab, respectively, have published final results of cardiovascular outcomes trials in patients with clinical ASCVD and in a smaller number of high-risk primary prevention patients. Read More

    Pharmacological interventions to improve cognition and adaptive functioning in Down syndrome: Strides to date.
    Am J Med Genet A 2017 Sep 8. Epub 2017 Sep 8.
    Department of Psychiatry and Behavioral Sciences, Duke University Medical Center, Durham, North Carolina.
    Although an increasing number of clinical trials have been developed for cognition in Down syndrome, there has been limited success to date in identifying effective interventions. This review describes the progression from pre-clinical studies with mouse models to human clinical trials research using pharmacological interventions to improve cognition and adaptive functioning in Down syndrome. We also provide considerations for investigators when conducting human clinical trials and describe strategies for the pharmaceutical industry to advance the field in drug discovery for Down syndrome. Read More

    Inhibition of DYRK1A disrupts neural lineage specification in human pluripotent stem cells.
    Elife 2017 Sep 8;6. Epub 2017 Sep 8.
    Department of Anatomy and Neuroscience, University of Melbourne, Melbourne, Australia.
    Genetic analysis has revealed that the dual specificity protein kinase DYRK1A has multiple roles in the development of the central nervous system. Increased DYRK1A gene dosage, such as occurs in Down syndrome, affects neural progenitor cell differentiation, while haploinsufficiency of DYRK1A is associated with severe microcephaly. Using a set of known and newly synthesized DYRK1A inhibitors, along with CRISPR-mediated gene activation and shRNA knockdown of DYRK1A, we show that chemical inhibition or genetic knockdown of DYRK1A interferes with neural specification of human pluripotent stem cells, a process equating to the earliest stage of human brain development. Read More

    Mortality in Swedish patients with Hirschsprung disease.
    Pediatr Surg Int 2017 Sep 7. Epub 2017 Sep 7.
    Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.
    Purpose: Hirschsprung disease (HSCR) has previously been associated with increased mortality. The aim of this study was to assess mortality in patients with Hirschsprung disease in a population-based cohort.

    Methods: This was a nationwide, population-based cohort study. Read More

    Coordinate roles for Itgα8 and Pcdh15 in the regulation of cilia biogenesis in sensory cells.
    J Cell Sci 2017 Sep 7. Epub 2017 Sep 7.
    Boys Town National Research Hospital, Omaha, NE, USA
    The organism's perception of its surroundings depends on sensory systems and the highly specialized cilia present in the neurosensory cells. Here, we described the existence of an integrin alpha 8 (Itga8)/protocadherin-15a (Pcdh15a) ciliary complex in neuromast hair cells. Depletion of the complex via down-regulation or loss of function mutations leads to a dysregulation of cilia biogenesis and endocytosis. Read More

    Effect of immune gene silencing in WSSV infected tiger shrimp Penaeus monodon.
    Fish Shellfish Immunol 2017 Sep 5;70:252-259. Epub 2017 Sep 5.
    Genetics and Biotechnology Unit, Central Institute of Brackishwater Aquaculture, 75, Santhome High Road, R.A.Puram, Chennai, 600028, India.
    White spot syndrome virus, continues to cause huge economic loss to aquaculture industry. In the absence of effective therapeutics to control WSSV, it is important to understand the host pathogen interaction at the molecular level. Suppression subtractive hybridization (SSH) cDNA library was constructed which led to identification of several differentially expressed genes in response to WSSV infection in Penaeus monodon. Read More

    Free Radic Biol Med 2017 Sep 4. Epub 2017 Sep 4.
    Knoebel Institute for Healthy Aging and the Department of Biology, University of Denver, Denver, CO; Medical University of South Carolina, Charleston, SC, University of Colorado Anschutz Medical Campus, Denver, CO. Electronic address:
    Every person with Down syndrome (DS) has the characteristic features of Alzheimer's disease (AD) neuropathology in their brain by the age of forty, and most go on to develop AD dementia. Since people with DS show highly variable levels of baseline function, it is often difficult to identify early signs of dementia in this population. The discovery of blood biomarkers predictive of dementia onset and/or progression in DS is critical for developing effective clinical diagnostics. Read More

    The Echocardiographic Characteristics and Prognostic Significance of Pericardial Effusions in Eisenmenger Syndrome.
    Heart Lung Circ 2017 Jun 15. Epub 2017 Jun 15.
    Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia; Sydney Medical School, University of Sydney, Sydney, NSW, Australia. Electronic address:
    Background And Objectives: Pericardial effusion (PE) confers a poor prognosis in non-congenital pulmonary arterial hypertension (PAH). The clinical significance and prognostic implications of PE in Eisenmenger syndrome (ES) is much less well characterised. Accordingly, we aimed to define the frequency, echocardiographic characteristics, natural history and clinical sequelae of PE in those with ES. Read More

    A flavonoid agonist of the TrkB receptor for BDNF improves hippocampal neurogenesis and hippocampus-dependent memory in the Ts65Dn mouse model of DS.
    Exp Neurol 2017 Sep 4;298(Pt A):79-96. Epub 2017 Sep 4.
    Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy. Electronic address:
    Intellectual disability is the unavoidable hallmark of Down syndrome (DS), with a heavy impact on public health. Reduced neurogenesis and impaired neuron maturation are considered major determinants of altered brain function in DS. Since the DS brain starts at a disadvantage, attempts to rescue neurogenesis and neuron maturation should take place as soon as possible. Read More

    Lower percentage of allergic sensitization in children with Down syndrome.
    Pediatr Allergy Immunol 2017 Sep 7. Epub 2017 Sep 7.
    Jeroen Bosch Academy, Jeroen Bosch Hospital, 's-Hertogenbosch.
    Children with Down syndrome (DS) often suffer from respiratory symptoms like wheezing, cough and dyspnea, especially in their preschool years(1). Healthcare professionals (and parents) often associate these symptoms with allergy or asthma(1-3), and prescribe anti-allergic and anti-asthmatic medication, especially in young DS children(3). Literature shows that allergic sensitization is present in around 27 to 40% of children in western countries(4-7). Read More

    A Case Report of 9p Deletion Syndrome Associated with Partial Trisomy of 1q42.
    Maedica (Buchar) 2017 Jan;12(1):55-58
    Professor of Neurogenetics, Department of Medical Genetics, Motahrai Hospital, Urmia University of Medical Sciences, Iran.
    We report a case of partial deletion of 9p with partial trisomy of 1q42 syndrome, which is a rare clinical and cytogenetic report. The dysmorphic features of the patient include microcephaly, plagiocephaly, trigonocephaly with metopic ridge, arched eyebrows, hypertelorism, down-slanting palpebral fissure, ptosis, blepharophimosis, unilateral left epicanthic fold, long eyelashes, low-set and posteriorly rotated ears, long philtrum, anteverted nares, retrognathia and unilateral undescended testis. Chromosomal analysis revealed partial monosomy of 9p24 associated with partial trisomy of 1q42q>ter. Read More

    A comparison of the function, activity and participation and quality of life between down syndrome children and typically developing children.
    J Phys Ther Sci 2017 Aug 10;29(8):1377-1380. Epub 2017 Aug 10.
    Department of Physical Therapy, Sahmyook University, Republic of Korea.
    [Purpose] To compare function, activity, participation, and quality of life of Down syndrome children and typically developing children according to age. [Subjects and Methods] A total of 16 Down syndrome children and 20 children with typical development were included as subjects for this study. International Classification of Functioning, Disability, and Health (ICF) Child and Youth version (CY) developed by the World Health Organization (WHO) and a questionnaire were used to measure children's functioning, activity, and participation. Read More

    S Afr J Surg 2017 Sep;55(3):68
    University of Cape Town, and Groote Schuur Hospital.
    Background: Trichobezoars are intraluminal accretions of ingested hair. Rapunzel syndrome is a rare and extreme presentation with extension down through into the small intestine. Most frequently reported in children and psychiatric patients, we report on an African series of five patients. Read More

    Aberrant Methylation-Mediated Suppression of APAF1 in Myelodysplastic Syndrome.
    Int J Hematol Oncol Stem Cell Res 2017 Apr;11(2):114-120
    Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, Iran.
    Background: Myelodysplastic syndromes (MDSs) include a diverse group of clonal bone marrow disorders characterized by ineffective hematopoiesis and pancytopenia. It was found that down regulation of APAF1, a putative tumor suppressor gene (TSG), leads to resistance to chemotherapy and disease development in some cancers. In this study, we investigated the relation of APAF1 methylation status with its expression and clinicopathological factors in myelodysplastic syndrome (MDS) patients. Read More

    Prenatal neurogenesis induction therapy normalizes brain structure and function in Down syndrome mice.
    Proc Natl Acad Sci U S A 2017 Sep 5. Epub 2017 Sep 5.
    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan;
    Down syndrome (DS) caused by trisomy of chromosome 21 is the most common genetic cause of intellectual disability. Although the prenatal diagnosis of DS has become feasible, there are no therapies available for the rescue of DS-related neurocognitive impairment. A growth inducer newly identified in our screen of neural stem cells (NSCs) has potent inhibitory activity against dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) and was found to rescue proliferative deficits in Ts65Dn-derived neurospheres and human NSCs derived from individuals with DS. Read More

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