Search our Database of Scientific Publications and Authors

I’m looking for a

    34542 results match your criteria Down Syndrome

    1 OF 691

    The Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) Scale: Comprehensive Assessment of Psychopathology in Down Syndrome.
    J Alzheimers Dis 2018 Apr 16. Epub 2018 Apr 16.
    Department of Neurology and Alzheimer Research Center, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
    People with Down syndrome (DS) are prone to develop Alzheimer's disease (AD). Behavioral and psychological symptoms of dementia (BPSD) are core features, but have not been comprehensively evaluated in DS. In a European multidisciplinary study, the novel Behavioral and Psychological Symptoms of Dementia in Down Syndrome (BPSD-DS) scale was developed to identify frequency and severity of behavioral changes taking account of life-long characteristic behavior. Read More

    Hidradenitis Suppurativa Associated with Down Syndrome Is Characterized by Early Age at Diagnosis.
    Dermatology 2018 Apr 24:1-5. Epub 2018 Apr 24.
    Institute of Dermatology, Catholic University, Rome, Italy.
    Background/aims: The association between hidradenitis suppurativa (HS) and multiple comorbidities has been widely investigated but data about the coexistence of Down syndrome (DS) are scarce. We sought to evaluate the prevalence of DS among a population of HS patients and assess their clinical features.

    Methods: We collected demographic and clinical data of patients affected with HS referred to three Italian outpatient dermatology clinics. Read More

    Discordance between serum anti-Müllerian hormone concentrations and antral follicle counts: not only technical issues.
    Hum Reprod 2018 Apr 24. Epub 2018 Apr 24.
    CHU Lille, Service de Gynécologie Endocrinienne et Médecine de la Reproduction, Hôpital Jeanne de Flandre, F-59037 Lille, France.
    Study Question: Do patient-specific features contribute to the differences between measured serum anti-Müllerian hormone (AMH) concentrations and AMH values expected from the corresponding antral follicle count (AFC)?

    Summary Answer: Patient-specific features contribute to the differences between measured AMH values and AMH values expected from the corresponding AFC (AMHp), potentially through their effect on follicular AMH production.

    What Is Known Already: Both patient counselling and patient management could be hampered by finding of disagreement between AFC and AMH if both are used for the prediction of ovarian response. The difference between measured AMH concentrations and AMH values expected according to the corresponding AFC cannot be entirely explained by the technical limitations of counting of antral follicles and analytical variability of the AMH assay used. Read More

    Vertical diplopia and oscillopsia due to midbrain keyhole aqueduct syndrome associated with severe cough.
    Am J Ophthalmol Case Rep 2018 Jun 15;10:128-131. Epub 2018 Feb 15.
    Department of Ophthalmology, Stanford School of Medicine, 2452 Watson Court, Palo Alto, CA 94303-5353, USA.
    Purpose: Midline structural defects in the neural axis can give rise to neuro-ophthalmic symptoms. We report a rare case of keyhole aqueduct syndrome presenting after two years of severe cough due to gastroesophageal reflux disease.

    Observations: A 58-year-old woman with a 2-year history of daily, severe cough presented to the neuro-ophthalmology clinic with progressive diplopia and oscillopsia. Read More

    Analysis of Downs syndrome with molecular techniques for future diagnoses.
    Saudi J Biol Sci 2018 Mar 3;25(3):558-562. Epub 2016 Feb 3.
    Deanship of Preparatory Year-Saudi Electronic University, Riyadh, Saudi Arabia.
    Down syndrome (DS) is a genetic disorder appeared due to the presence of trisomy in chromosome 21 in the G-group of the acrocentric region. DS is also known as non-Mendelian inheritance, due to the lack of Mendel's laws. The disorder in children is identified through clinical symptoms and chromosomal analysis and till now there are no biochemical and molecular analyses. Read More

    Injury among adolescents with intellectual disability: A prospective cohort study.
    Injury 2018 Apr 12. Epub 2018 Apr 12.
    Queensland Centre for Intellectual and Developmental Disability, MRI-UQ, The University of Queensland, South Brisbane Qld, Australia; Menzies Health Institute Queensland, Griffith University, Nathan, QLD Australia. Electronic address:
    Introduction: Injury is the leading cause of mortality and morbidity in adolescents worldwide, and injury rates have been shown to be higher among youth with intellectual disability. Despite this, injury among adolescents with intellectual disability remains poorly investigated. This study aimed to identify characteristics associated with injury among adolescents with intellectual disability living in the community. Read More

    Nrf2 activation protects against intratracheal LPS induced mouse/murine acute respiratory distress syndrome by regulating macrophage polarization.
    Biochem Biophys Res Commun 2018 Apr 20. Epub 2018 Apr 20.
    Department of Anesthesiology, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai, 200433, China. Electronic address:
    The transcription factor nuclear factor E2-related factor 2 (Nrf2) is known to control the expression of antioxidant response elements and cytoprotective genes and modulate inflammatory response, helping to ameliorate damage in many diseases. Exactly how Nrf2 regulates innate inflammatory homeostasis remains unclear. In this study, we provide in vitro and in vivo evidence that Nrf2 plays a crucial role in macrophage polarization and acute respiratory distress syndrome (ARDS). Read More

    Down syndrome and mild kidney dysfunction.
    Pediatr Int 2018 Apr;60(4):391-393
    Department of Pediatric Nephrology, Aichi Children's Health and Medical Center, Obu, Aichi, Japan.
    Few studies have evaluated kidney function in children with Down syndrome (DS) in detail. This study investigated kidney function in pediatric DS patients without complications that affect kidney function. Creatinine (Cr)- and cystatin C (cysC)-based estimated glomerular filtration rate (eGFR) were measured in a cohort of Japanese DS patients. Read More

    Beyond the floor effect on the WISC-IV in individuals with Down syndrome: are there cognitive strengths and weaknesses?
    J Intellect Disabil Res 2018 Apr 22. Epub 2018 Apr 22.
    Department of Dynamic and Clinical Psychology, Sapienza University of Rome (Italy), Rome, Italy.
    Background: Individuals with Down syndrome generally show a floor effect on Wechsler Scales that is manifested by flat profiles and with many or all of the weighted scores on the subtests equal to 1.

    Method: The main aim of the present paper is to use the statistical Hessl method and the extended statistical method of Orsini, Pezzuti and Hulbert with a sample of individuals with Down syndrome (n = 128; 72 boys and 56 girls), to underline the variability of performance on Wechsler Intelligence Scale for Children-Fourth Edition subtests and indices, highlighting any strengths and weaknesses of this population that otherwise appear to be flattened.

    Results: Based on results using traditional transformation of raw scores into weighted scores, a very high percentage of subtests with weighted score of 1 occurred in the Down syndrome sample, with a floor effect and without any statistically significant difference between four core Wechsler Intelligence Scale for Children-Fourth Edition indices. Read More

    Bone Mineral Density Distribution Curves in Spanish Adults With Down Syndrome.
    J Clin Densitom 2018 Mar 21. Epub 2018 Mar 21.
    Adult Down Syndrome Outpatient Clinic, Department of Internal Medicine, Instituto de Investigación Sanitaria-Princesa (IIS-IP), Hospital Universitario de La Princesa, Madrid, Spain.
    According to reports from small-sized case series, adults with Down syndrome (DS) appear to have lower bone mineral density (BMD) than the general population. The objective of our study was to further characterize the bone mass acquisition curve in an adult DS population. This is a retrospective study of 297 adults with DS from the Adult Down Syndrome Outpatient Clinic of a tertiary care hospital in Madrid, Spain, who underwent a bone densitometry (Hologic QDR-4500W), for clinical purposes between January 2010 and June 2015. Read More

    Possible association between obesity and periodontitis in patients with Down syndrome.
    Med Oral Patol Oral Cir Bucal 2018 Apr 22. Epub 2018 Apr 22.
    Dentistry and Medicine Faculty University of Valencia C/ Gasco Oliag nº1 Valencia 46010 SPAIN
    Background: The present study was carried out to evaluate the possible association between obesity and periodontitis in patients with DS, and to explore which measure of obesity is most closely correlated to periodontitis.

    Material And Methods: A prospective observational study was made to determine whether obesity is related to periodontal disease in patients with DS. The anthropometric variables were body height and weight, which were used to calculate BMI and stratify the patients into three categories: < 25(normal weight), 25-29. Read More

    Anti-IL-7 receptor-α treatment ameliorates newly established Sjögren's-like exocrinopathy in non-obese diabetic mice.
    Biochim Biophys Acta 2018 Apr 19. Epub 2018 Apr 19.
    The Forsyth Institute, 245 First Street, Cambridge, MA 02142, USA.; Department of Oral Medicine, Infection and Immunity, Harvard School of Dental Medicine, 188 Longwood Avenue, Boston, MA 02115.. Electronic address:
    The levels of interleukin (IL)-7 and its receptor are elevated in the salivary glands of patients with Sjögren's syndrome (SS). Our previous study indicates that IL-7 plays a critical pathogenic role in the development and onset of SS in a mouse model of this disease. The present study aims at determining whether IL-7 also plays a role in sustaining SS pathologies after the disease onset, by using the non-obese diabetic (NOD) model. Read More

    Pulmonary hemosiderosis in children with Down syndrome: a national experience.
    Orphanet J Rare Dis 2018 Apr 20;13(1):60. Epub 2018 Apr 20.
    Assistance Publique Hôpitaux de Paris (APHP), Pediatric Pulmonology department and Reference centre for rare lung diseases, RespiRare, Trousseau Hospital, 75012, Paris, France.
    Background: Pulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosiderosis and Down syndrome (DS), and at least one tested autoantibody was found positive in 50%. This study investigates the relationships between pulmonary hemosiderosis and DS. Read More

    Perceptions of Severe Asthma and Asthma-COPD Overlap Syndrome Among Specialists: A Questionnaire Survey.
    Allergy Asthma Immunol Res 2018 May;10(3):225-235
    Department of Internal Medicine, Hanyang University College of Medicine, Seoul, Korea.
    Purpose: Severe asthma and asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS) are difficult to control and are often associated with poor clinical outcomes. However, much is not understood regarding the diagnosis and treatment of severe asthma and ACOS. To evaluate the current perceptions of severe asthma and COPD among asthma and COPD specialists, we designed an e-mail and internet-based questionnaire survey. Read More

    Emotion Recognition as a Real Strength in Williams Syndrome: Evidence From a Dynamic Non-verbal Task.
    Front Psychol 2018 5;9:463. Epub 2018 Apr 5.
    Laboratoire de Psychologie Cognition, Santé, Société (EA 6291), Université de Reims Champagne-Ardenne, Reims, France.
    The hypersocial profile characterizing individuals with Williams syndrome (WS), and particularly their attraction to human faces and their desire to form relationships with other people, could favor the development of their emotion recognition capacities. This study seeks to better understand the development of emotion recognition capacities in WS. The ability to recognize six emotions was assessed in 15 participants with WS. Read More

    Up-Regulation of Long Noncoding RNA SRA Promotes Cell Growth, Inhibits Cell Apoptosis, and Induces Secretion of Estradiol and Progesterone in Ovarian Granular Cells of Mice.
    Med Sci Monit 2018 Apr 20;24:2384-2390. Epub 2018 Apr 20.
    Department of Obstetrics and Gynecology, Xijing Hospital, The Fourth Military Medical University, Xi'an, Shaanxi, China (mainland).
    BACKGROUND Increasing evidence indicates that long noncoding RNAs (LncRNAs) play a key role in multiple pathological processes. It has been shown that LncRNA steroid receptor RNA activator (SRA) is elevated in peripheral blood of patients with polycystic ovary syndrome (PCOS). The aim of this study was to assess the effect of elevated LncRNA SRA on ovarian granular cells of mice in vitro. Read More

    Electro-vectorcardiographic demonstration of bifascicular block associated with ventricular preexcitation.
    Ann Noninvasive Electrocardiol 2018 Apr 19:e12550. Epub 2018 Apr 19.
    Heart Center, Tampere University Hospital and Faculty of Medicine and Life Sciences, University of Tampere, Tampere, Finland.
    Down syndrome occurs more frequently in the offsprings of older pregnant women and may be associated with atrioventricular septal defect. This refers to a broad spectrum of malformations characterized by a deficiency of the atrioventricular septum and abnormalities of the atrioventricular valves caused by an abnormal fusion of the superior and inferior endocardial cushions with the midportion of the atrial septum and the muscular portion of the ventricular septum. Read More

    Gait Characteristics of Adults With Intellectual Disability.
    Am J Intellect Dev Disabil 2018 May;123(3):283-299
    Alyt Oppewal, Dederieke A. M. Festen, and Thessa I. M. Hilgekamp, Erasmus MC, University Medical Center Rotterdam, the Netherlands.
    Gait is a relevant and complex aspect of motor functioning. Disturbances are related to negative health outcomes. Gait characteristics of 31 adults with intellectual disability (ID) without Down syndrome (DS) (42. Read More

    Behavioral Problems and Psychosocial Strengths: Unique Factors Contributing to the Behavioral Profile of Youth With Down Syndrome.
    Am J Intellect Dev Disabil 2018 May;123(3):212-227
    Peter Prinzie, Erasmus University Rotterdam, The Netherlands.
    This study aimed to describe problem behaviors and psychosocial strengths, examine the problem-strength interrelations, and evaluate profiles of problems and strengths in youth with Down syndrome (DS). The community-based sample consisted of 67 parents of children with DS aged between 4 and 19 years. Parents reported about the developmental age (Vineland screener), behavioral problems (Child Behavior Checklist), and psychosocial strengths (Behavioral and Emotional Rating Scale) of their child. Read More

    The effect of tonsillectomy on obstructive sleep apnea: an overview of systematic reviews.
    Nat Sci Sleep 2018 4;10:105-110. Epub 2018 Apr 4.
    Otolaryngology - Head and Neck Surgery, Tripler Army Medical Center, Honolulu, HI, USA.
    Objective: Tonsillectomy with adenoidectomy is a combination surgery that has been used to treat pediatric obstructive sleep apnea (OSA). For adults, tonsillectomy has also been reported as a primary treatment modality when the tissue is hypertrophied. The objective of this study is to provide an overview of published systematic reviews and meta-analyses of tonsillectomy with or without adenoidectomy as used in the treatment of OSA in children and adults. Read More

    Epigenetic Therapy in a Patient With Down Syndrome and Refractory Acute Myeloid Leukemia.
    J Pediatr Hematol Oncol 2018 Apr 17. Epub 2018 Apr 17.
    Department of Pediatrics, Division of Hematology/Oncology/Blood and Marrow Transplantation, Medical College of Wisconsin/Children's Hospital of Wisconsin.
    Acute myeloid leukemia (AML) associated with Down syndrome (DS-AML) is a unique entity of AML with superior treatment response and overall survival compared with children with non-DS-AML. Despite good outcomes in DS-AML, those who relapse or have refractory disease have poor survival. Successful treatment of these patients is challenged by increased incidence of treatment-related toxicities often encountered with high-dose chemotherapy. Read More

    Levodopa-Responsive Early-Onset Parkinsonism in Down Syndrome.
    Case Rep Neurol Med 2018 15;2018:2314791. Epub 2018 Feb 15.
    Children's Hospital Colorado, 13123 E. 16th Ave., Aurora, CO 80045, USA.
    Individuals with Down syndrome (DS) can develop Alzheimer's disease as early as 30 to 40 years old, but parkinsonism is rarely described. We report on a 20-year-old woman with Down syndrome and parkinsonism who responded dramatically to carbidopa-levodopa. We propose that the occurrence of parkinsonism in individuals with DS may be underreported. Read More

    Double trisomy (XXX+21 karyotype) in a six-year-old girl with down phenotype.
    J Genet 2018 Mar;97(1):337-340
    Neuroscience research group (Neuros), School of Medicine and Health Sciences, Universidad del Rosario, Bogotá 111221, Colombia.
    We describe a case of a six-year-old girl who presents multiple dysmorphic features characteristic of Down's syndrome. She has a significant general developmental delay, with a score that correspond to 32 months of developmental age. This delay is especially in language, with a very scant vocabulary. Read More

    The effect of long-term treatment with coenzyme Q10 on nucleic acid modifications by oxidation in children with Down syndrome.
    Neurobiol Aging 2018 Mar 15;67:159-161. Epub 2018 Mar 15.
    Department of Life and Environmental Sciences, Polytechnic University of Marche, Ancona, Italy.
    Elevated levels of oxidative nucleic acid modifications have been proposed to be associated with some of the clinical characteristics of Down syndrome. Oral intake of coenzyme Q10 improves oxidative status and shows a tendency toward protective effect on DNA oxidation in certain age groups of children with Down syndrome. Here, we demonstrate that long-term (i. Read More

    Active Transcutaneous Bone Conduction Implant: Middle Fossa Placement Technique in Children With Bilateral Microtia and External Auditory Canal Atresia.
    Otol Neurotol 2018 Apr 16. Epub 2018 Apr 16.
    Hospital del Salvador, Universidad de Chile, Dr. Luis Calvo Mackenna Children's Hospital, Santiago, Chile.
    Aim: The aim of this study is to present the middle fossa technique (MFT) as an alternative for patients who cannot undergo traditional surgery for active transcutaneous bone conduction implants (ATBCI) due to their altered anatomy or desire for future aesthetic reconstruction.

    Design: A case series descriptive study was designed. The MFT was developed. Read More

    Good health indicators in children with Down syndrome: High frequency of exclusive breastfeeding at 6 months.
    Rev Chil Pediatr 2018 Feb;89(1):32-41
    Centro UC Síndrome de Down, Chile,
    Aim: To describe the frequency of exclusive breastfeeding at 6 months in binomial of mother and in fants with Down Syndrome (DS) attending at the Health net UC CHRISTUS (PSSPSD-UC), and iden tify the main factors associated with exclusive breastfeeding cessation.

    Patients And Methods: Prevalence study of exclusively breastfeeding at 6 months of age that includes mother-child binomial of Chilean infants with (DS) aged 6-24 months, who attend the PSSPSD-UC. An on-line questionnaire was conducted, which included demographic data, child's background and experience in breastfee ding. Read More

    Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario.
    Indian J Med Res 2017 Dec;146(6):689-699
    Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India.
    Prenatal testing is the best strategy for reducing the burden of genetic disorders and congenital disabilities that cause significant postnatal functional impairment. Universal prenatal screening is advisable for common genetic disorders and congenital anomalies such as Down syndrome, beta-thalassaemia and neural tube defects. Several prenatal-screening tests are now available for Down syndrome, but knowledge about the appropriate timing of the test and the need for pre- and post-test counselling may not be updated among the primary care physicians. Read More

    Tyrosine kinase receptor c-ros-oncogene 1 inhibition alleviates aberrant bone formation of TWIST-1 haploinsufficient calvarial cells from Saethre-Chotzen syndrome patients.
    J Cell Physiol 2018 Apr 16. Epub 2018 Apr 16.
    Mesenchymal Stem Cell Laboratory, Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, South Australia, Australia.
    Saethre-Chotzen syndrome (SCS), associated with TWIST-1 mutations, is characterized by premature fusion of cranial sutures. TWIST-1 haploinsufficiency, leads to alterations in suture mesenchyme cellular gene expression patterns, resulting in aberrant osteogenesis and craniosynostosis. We analyzed the expression of the TWIST-1 target, Tyrosine kinase receptor c-ros-oncogene 1 (C-ROS-1) in TWIST-1 haploinsufficient calvarial cells derived from SCS patients and calvaria of Twist-1 mutant mice and found it to be highly expressed when compared to TWIST-1 wild-type controls. Read More

    The Continuum of Aging and Age-Related Diseases: Common Mechanisms but Different Rates.
    Front Med (Lausanne) 2018 12;5:61. Epub 2018 Mar 12.
    Department of Experimental, Diagnostic and Specialty Medicine (DIMES), University of Bologna, Bologna, Italy.
    Geroscience, the new interdisciplinary field that aims to understand the relationship between aging and chronic age-related diseases (ARDs) and geriatric syndromes (GSs), is based on epidemiological evidence and experimental data that aging is the major risk factor for such pathologies and assumes that aging and ARDs/GSs share a common set of basic biological mechanisms. A consequence is that the primary target of medicine is to combat aging instead of any single ARD/GSs one by one, as favored by the fragmentation into hundreds of specialties and sub-specialties. If the same molecular and cellular mechanisms underpin both aging and ARDs/GSs, a major question emerges: which is the difference, if any, between aging and ARDs/GSs? The hypothesis that ARDs and GSs such as frailty can be conceptualized as accelerated aging will be discussed by analyzing in particular frailty, sarcopenia, chronic obstructive pulmonary disease, cancer, neurodegenerative diseases such as Alzheimer and Parkinson as well as Down syndrome as an example of progeroid syndrome. Read More

    Segmental duplication-quantitative fluorescent-polymerase chain reaction: An approach for the diagnosis of Down syndrome in India.
    Turk J Obstet Gynecol 2018 Mar 29;15(1):18-22. Epub 2018 Mar 29.
    Sanjay Gandhi Postgraduate Institute of Medical Sciences, Department of Medical Genetics, Lucknow, India.
    Objective: Early detection of high-risk pregnancies for Down syndrome (DS) is the main target of offering prenatal diagnosis. Segmental duplication-quantitative fluorescent-polymerase chain reaction (SD-QF-PCR) can be used as an alternative method for prenatal diagnosis of DS. SD-QF-PCR involves SD sequences between the test and control chromosomes to detect aneuploidies. Read More

    The miR-106b-25 cluster mediates breast tumor initiation through activation of NOTCH1 via direct repression of NEDD4L.
    Oncogene 2018 Apr 17. Epub 2018 Apr 17.
    Program in Molecular Biology, University of Colorado Anschutz Medical Campus, Aurora, CO, 80045, USA.
    Tumor-initiating cells (TIC) represent a subset of tumor cells with increased self-renewal capability. TICs display resistance to frontline cancer treatment and retain the ability to repopulate a tumor after therapy, leading to cancer relapse. NOTCH signaling has been identified as an important driver of the TIC population, yet mechanisms governing regulation of this pathway in cancer remain to be fully elucidated. Read More

    microRNA 155 up regulation in the CNS is strongly correlated to Down's syndrome dementia.
    Ann Diagn Pathol 2018 Mar 26;34:103-109. Epub 2018 Mar 26.
    GNOME Diagnostics, Powell, OH 43065, USA; OSU Comprehensive Cancer Center, Columbus, OH 43210, USA. Electronic address:
    This study examined the molecular correlates of Down's dementia. qRTPCR for chromosome 21 microRNAs was correlated with in situ hybridization, immunohistochemistry for microRNA targets, mRNAs located on chromosome 21, and neurofibrillary tangles in human and the Ts65 dn mouse Down's model. qRTPCR for the microRNAs on the triplicated chromosome showed miR-155 dominance in brain tissues (14. Read More

    Final results of a phase 2, open-label study of indisulam, idarubicin, and cytarabine in patients with relapsed or refractory acute myeloid leukemia and high-risk myelodysplastic syndrome.
    Cancer 2018 Apr 16. Epub 2018 Apr 16.
    Department of Leukemia, The University of Texas MD Anderson Cancer Center, Houston, Texas.
    Background: Indisulam possesses anticancer properties through down-regulation of various cell-cycle checkpoint molecules, thereby blocking the phosphorylation of retinoblastoma protein and inducing p53 and p21. Indisulam exhibits synergy with nucleoside analogs and topoisomerase inhibitors.

    Methods: The authors designed a phase 2 study of indisulam in combination with idarubicin and cytarabine in patients who had relapsed/refractory acute myeloid leukemia AML and high-risk myelodysplastic syndrome. Read More

    Hyperhomocysteinemia and hyperandrogenemia share PCSK9-LDLR pathway to disrupt lipid homeostasis in PCOS.
    Biochem Biophys Res Commun 2018 Apr 13. Epub 2018 Apr 13.
    Reproductive Biology Research, CSIR-Indian Institute of Chemical Biology, Jadavpur, Kolkata, 700032, WB, India. Electronic address:
    Women with polycystic ovary syndrome (PCOS) are at increased risk of cardiovascular diseases (CVD); however, the independent role of PCOS in the incident CVD remains unknown. There are reports that hyperhomocysteinemia (HHcy), a potential cause of CVD, is frequently associated with PCOS. The present study investigates the independent attributes of hyperandrogenemia (HA), the integral associate of PCOS, and HHcy in causing atherogenic dyslipidemia. Read More

    Much ado about mice: Standard-setting in model organism research.
    Stud Hist Philos Biol Biomed Sci 2018 Apr 11. Epub 2018 Apr 11.
    Department of Communication and Science Studies Program, University of California, San Diego, USA. Electronic address:
    Recently there has been a practice turn in the philosophy of science that has called for analyses to be grounded in the actual doings of everyday science. This paper is in furtherance of this call and it does so by employing participant-observation ethnographic methods as a tool for discovering epistemological features of scientific practice in a neuroscience lab. The case I present focuses on a group of neurobiologists researching the genetic underpinnings of cognition in Down syndrome (DS) and how they have developed a new mouse model which they argue should be regarded as the "gold standard" for all DS mouse research. Read More

    Long-Term, Fructose-Induced Metabolic Syndrome-Like Condition Is Associated with Higher Metabolism, Reduced Synaptic Plasticity and Cognitive Impairment in Octodon degus.
    Mol Neurobiol 2018 Apr 13. Epub 2018 Apr 13.
    Centro de Envejecimiento y Regeneración (CARE), Departamento de Biología Celular y Molecular, Facultad de Ciencias Biológicas, Pontificia Universidad Católica de Chile, 6513677, Santiago, Chile.
    There has been a progressive increase in the incidence of fructose-induced metabolic disorders, such as metabolic syndrome (MetS). Moreover, novel evidence reported negative effects of high-fructose diets in brain function. This study was designed to evaluate for the first time the effects of long-term fructose consumption (LT-FC) on the normal ageing process in a long-lived animal model rodent, Octodon degus or degu. Read More

    Heart rate variability and baroreflex sensitivity abnormalities in Guillain-Barré syndrome: a pilot study.
    Clin Auton Res 2018 Apr 13. Epub 2018 Apr 13.
    Division of Geriatric Medicine, Department of Medicine, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
    Objective: The current study aimed to investigate autonomic dysfunction in Guillain-Barré syndrome (GBS) patients and describe the results of computational heart rate variability (HRV)/baroreflex sensitivity (BRS) and autonomic challenge tests.

    Methods: GBS patients were consecutively recruited and the results were compared to age- and gender-matched healthy controls. A series of autonomic function tests including computation-dependent tests (power spectrum analysis of HRV and BRS at rest) and challenge maneuvers (deep breathing, eyeball compression, active standing, the Valsalva maneuver, sustained handgrip, and the cold pressor test) were performed. Read More

    No-fistula vs. fistula type anorectal malformation: Outcome comparative study.
    J Pediatr Surg 2018 Mar 16. Epub 2018 Mar 16.
    Alfaisal University, Riyadh, Saudi Arabia.
    Introduction: Anorectal malformation (ARM) is a congenital defect that exists in varying presentations and no-fistula type (NFT) ARM is a rare high-type category. We aim to report our experience with management of this anomaly and its outcome, compared to the more common fistula-type (FT) ARM.

    Methods: A retrospective review of medical records of patients diagnosed with high ARM and 3years and older, for the period between September 2000 and January 2015 was conducted. Read More

    Static postural control among school-aged youth with Down syndrome: A systematic review.
    Gait Posture 2018 Mar 16;62:426-433. Epub 2018 Mar 16.
    Department of Psychoeducation and Psychology, Université du Québec en Outaouais (UQO), Saint-Jérôme, Canada; School of Public Health, Department of Social and Preventive Medicine, Université de Montréal, Montréal, Canada; Research Center, Centre intégré universitaire de santé et de services sociaux (CIUSSS) du Nord-de-l'Île-de-Montréal, Montréal, Canada.
    Background: Youth with Down syndrome are characterized by motor delays when compared to typically developing (TD) youth, which may be explained by a lower postural control or reduced postural tone.

    Objective: In the present article, we summarize research comparing the static postural control, assessed by posturography, between youth with Down syndrome and TD youth.

    Methods: A systematic literature search was performed in 10 databases and seven studies, published between 2001 and 2017, met our inclusion criteria. Read More

    Palivizumab use in infants with Down syndrome-report from the German Synagis™ Registry 2009-2016.
    Eur J Pediatr 2018 Apr 12. Epub 2018 Apr 12.
    Institutes for Medical Biometry, Epidemiology and Medical Informatics (IMBEI), Campus Homburg, Saarland University, Homburg, Germany.
    Infants with Down syndrome (DS) face an increased risk of respiratory tract infections. Recent studies describe DS as independent risk factor for a complicated clinical course in infants with respiratory syncytial virus (RSV) infection. The prospective observational German Synagis™ Registry comprises data from 249 children below 25 months of age with DS and palivizumab prophylaxis 2009-2016 (1191 administrations; mean 4. Read More

    Evaluation of upper limb movements in children with Down's syndrome: A systematic review.
    Infant Behav Dev 2018 Apr 9;51:45-51. Epub 2018 Apr 9.
    Health Sciences Program, Faculty of Medical Sciences of Santa Casa de São Paulo, Brazil; University Center Of Anápolis, Goias, Brazil.
    The aim of the present study was to perform a review of the literature on current quantitative clinical methods for the evaluation of upper limb movements in children and adolescents with Down syndrome, with a focus on describing the variables, protocols, motor function and motor control.

    Methods: A survey of PubMed, Scielo, BVS Bireme and PEDro databases using the following key words: upper limb and EMG and Down syndrome; upper limb and kinematics and Down syndrome; upper limb and motion analysis and Down syndrome; movement and upper limb and Down syndrome; upper limb and Down syndrome; reach and Down syndrome.

    Results: In all, 344 articles and five were selected to compose the present systematic review. Read More

    Identifying Patients with Atrioventricular Septal Defect in Down Syndrome Populations by Using Self-Normalizing Neural Networks and Feature Selection.
    Genes (Basel) 2018 Apr 12;9(4). Epub 2018 Apr 12.
    College of Life Science, Shanghai University, Shanghai 200444, China.
    Atrioventricular septal defect (AVSD) is a clinically significant subtype of congenital heart disease (CHD) that severely influences the health of babies during birth and is associated with Down syndrome (DS). Thus, exploring the differences in functional genes in DS samples with and without AVSD is a critical way to investigate the complex association between AVSD and DS. In this study, we present a computational method to distinguish DS patients with AVSD from those without AVSD using the newly proposed self-normalizing neural network (SNN). Read More

    Streptococcus bovis - unusual etiology of meningitis in a neonate with Down syndrome: a case report.
    J Med Case Rep 2018 Apr 12;12(1):93. Epub 2018 Apr 12.
    Colombo North Teaching Hospital, Ragama, 11010, Sri Lanka.
    Background: Common etiological agents of neonatal meningitis include group B Streptococcus, Escherichia coli, and Staphylococcus aureus. Here we report a rare pathogen - Streptococcus bovis - causing meningitis in a premature neonate with Down syndrome.

    Case Presentation: A 26-day-old Asian male neonate with Down syndrome presented with a history of high-grade fever, poor sucking, poor cry, and reduced activity. Read More

    Implementation and new insights in molecular diagnostics for HIV infection.
    Expert Rev Mol Diagn 2018 Apr 19:1-9. Epub 2018 Apr 19.
    a Department of Health Technology and Informatics, Faculty of Health and Social Sciences , The Hong Kong Polytechnic University , Kowloon , Hong Kong Special Administrative Region , China.
    Introduction: Acquired immunodeficiency syndrome (AIDS) is a kind of acquired disease that breaks down the immune system. Human immunodeficiency virus (HIV) is the causative agent of AIDS. By the end of 2016, there were 36. Read More

    [Fragile X syndrome and FMR1-dependent diseases - clinical presentation, epidemiology and molecular background].
    Dev Period Med 2018 ;22(1):14-21
    Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa, Polska.
    Fragile X syndrome (FXS) is the second most common inherited cause of intellectual disability (ID), after Down syndrome. The severity of ID in FXS patients varies and depends mainly on the patient's sex. Besides intellectual disorders, additional symptoms, such as psychomotor delay, a specific behavioral phenotype, or emotional problems are present in FXS patients. Read More

    Correction to: Palivizumab Prophylaxis Against Respiratory Syncytial Virus Infection in Children with Immunocompromised Conditions or Down Syndrome: A Multicenter, Post-Marketing Surveillance in Japan.
    Paediatr Drugs 2018 Apr 10. Epub 2018 Apr 10.
    AbbVie GK, Mita 3-5-27, Minato-ku, Tokyo, 108-6302, Japan.
    "Newborns, infants, or young children aged 24 months and under who have Down syndrome, and children ≤ 24 months of age without a current hs-CHD if they had experienced persistent respiratory symptoms or regular outpatient treatment due to a respiratory tract infection in previous RSV seasons were also eligible for the study." Read More

    β-arrestin2 functions as a key regulator in the sympathetic-triggered immunodepression after stroke.
    J Neuroinflammation 2018 Apr 10;15(1):102. Epub 2018 Apr 10.
    Department of Neurology, Affiliated ZhongDa Hospital, School of Medicine, Southeast University, Dingjiaqiao 87, Nanjing, 210009, People's Republic of China.
    Background: Stroke-induced immunodeficiency syndrome (SIDS) is regarded as a protective mechanism for secondary inflammatory injury as well as a contributor to infection complications. Although stroke-induced hyperactivation of the sympathetic system is proved to facilitate SIDS, the involved endogenous factors and pathways are largely elusive. In this study, we aim to investigate the function of beta-arrestin-2 (ARRB2) in the sympathetic-mediated SIDS. Read More

    Does the Visual Channel Improve the Perception of Consonants Produced by Speakers of French With Down Syndrome?
    J Speech Lang Hear Res 2018 Apr 10:1-16. Epub 2018 Apr 10.
    Univ. Grenoble Alpes, CNRS, Grenoble INP, GIPSA-lab, 38000 Grenoble, France.
    Purpose: This work evaluates whether seeing the speaker's face could improve the speech intelligibility of adults with Down syndrome (DS). This is not straightforward because DS induces a number of anatomical and motor anomalies affecting the orofacial zone.

    Method: A speech-in-noise perception test was used to evaluate the intelligibility of 16 consonants (Cs) produced in a vowel-consonant-vowel context (Vo = /a/) by 4 speakers with DS and 4 control speakers. Read More

    A Rare Case of Calciphylaxis in an Orthotopic Liver Transplant Recipient with Acute Kidney Injury.
    Exp Clin Transplant 2018 Apr 9. Epub 2018 Apr 9.
    From the Department of Transplant Nephrology, Einstein Medical Center, Philadelphia, Pennsylvania, USA.
    Calciphylaxis is a rare disease characterized by calcification of small- to medium-sized blood vessels in the dermis and subcutaneous fat, resulting in cutaneous necrosis. Although most commonly shown in patients with end-stage kidney disease, it has also been reported in patients with other diseases, including alcoholic cirrhosis and malignancies. Here, we report an unusual case of calciphylaxis in an orthotopic liver transplant recipient with acute kidney injury. Read More

    1 OF 691