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Down Syndrome Screening

Marco Zaffanello, Franco Antoniazzi, Laura Tenero, Luana Nosetti, Michele Piazza, Giorgio Piacentini
Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. In children with genetic diseases, the clinical symptoms of OSAS are often slight or absent, and related morbidities are usually more severe and can be observed at any age...
September 2018: Annals of Translational Medicine
Ryne Simpson, Anthony A Oyekan, Zarmina Ehsan, David G Ingram
For individuals with Down syndrome (DS), obstructive sleep apnea (OSA) is a complex disorder with significant clinical consequences. OSA is seen frequently in DS, and when present, it tends to be more severe. This increased prevalence is likely related to common anatomic abnormalities and a greater risk of additional comorbidities such as hypotonia and obesity. Because signs and symptoms do not often correlate with disease, all children and adults with DS should receive routine screening for OSA. Similar to the general population, polysomnography remains the gold standard for diagnosis...
2018: Nature and Science of Sleep
Geralyn Lambert-Messerlian, Glenn E Palomaki
Objective To quantify changes in the proportion of women aged 35 and older choosing serum screening for Down's syndrome over time and the effect on false positive and detection rates. Methods From Rhode Island hospital-based laboratory prenatal screening records (2013-2017) we extracted the test performed (Integrated, Combined, Quadruple), maternal age, and Down's syndrome risk; documented observed changes in maternal age distributions and false positive rates, and modelled the impact of varying proportions of older women choosing screening on each test's performance using the 2015 United States birth cohort as baseline...
September 25, 2018: Journal of Medical Screening
Xiao-Qing Ding, Wen-Yuan Wu, Rui-Qing Jiao, Ting-Ting Gu, Qiang Xu, Ying Pan, Ling-Dong Kong
Excess fructose consumption causes high prevalence of metabolic syndrome and inflammatory liver diseases. The aim of the current study was to investigate the therapeutic effects and underlying molecular mechanisms of curcumin and allopurinol in high fructose-induced hepatic inflammation. Male Sprague-Dawley rats were supplied with standard rat chow and drinking water containing 10% (w/v) fructose for consecutive 12 weeks. Curcumin (15, 30 and 60 mg/kg) and allopurinol (5 mg/kg) were administered to rats via oral gavage daily from Week 7 to 12...
September 22, 2018: Pharmacological Research: the Official Journal of the Italian Pharmacological Society
Olivia Miu Yung Ngan, Huso Yi, Shenaz Ahmed
BACKGROUND: Cell-free fetal DNA sequencing based non-invasive prenatal testing (NIPT) for Down syndrome (DS) has become widely available. In Hong Kong, obstetric providers in the public sector refer women identified at high risk of having a child with Down syndrome to obstetric providers in the private sector for NIPT. Little is known about how the NIPT has been adopted in the public sector where DS screening is provided for free of charge. The study aimed to identify the factors influencing providers' role enactment, such as consultation and referral, in the service provision of NIPT for DS in public and private healthcare sectors...
September 21, 2018: BMC Health Services Research
M Swanepoel, T Haw
BACKGROUND: Parenting a child who has an intellectual disability has been shown to increase the risk for developing depression. The purpose of this study was to screen for depression and to determine if there is an association between depressive symptoms and certain sociodemographic factors in mothers with a child diagnosed with Down syndrome in state health care facilities in Johannesburg. METHODS: The study included 30 biological mothers of children between 6 months and 3 years diagnosed with Down syndrome postnatally...
September 19, 2018: Journal of Intellectual Disability Research: JIDR
Morten Magelssen, Berge Solberg, Magne Supphellen, Guttorm Haugen
BACKGROUND: Norway's liberal abortion law allows for abortion on social indications, yet access to screening for fetal abnormalities is restricted. Norwegian regulation of, and public discourse about prenatal screening and diagnosis has been exceptional. In this study, we wanted to investigate whether the exceptional regulation is mirrored in public attitudes. METHOD: An electronic questionnaire with 11 propositions about prenatal screening and diagnosis was completed by 1617 Norwegian adults (response rate 8...
September 18, 2018: BMC Medical Ethics
V Ashok Murthy, K Spandana
Various degrees of sensory neural hearing loss can be seen in the progression of some hereditary periodic fever syndromes. Otoacoustic emission testing can help to establish the inner ear involvement at an early period of a periodic fever with a risk of hearing loss (Abdul Kadir et al. in J Int Adv Otol 9(2.79):08-11, 2014). Sensorineural hearing loss is the common most complication of bacterial meningitis in childhood (Richardson in Pediatrics 102(6):1364-1368, 1998). When present from birth, or acquired in the pre-school years, hearing loss of any degree, even mild hearing loss, interferes with speech and language development...
September 2018: Indian Journal of Otolaryngology and Head and Neck Surgery
Katrina Meyer, Marieluise Kirchner, Bora Uyar, Jing-Yuan Cheng, Giulia Russo, Luis R Hernandez-Miranda, Anna Szymborska, Henrik Zauber, Ina-Maria Rudolph, Thomas E Willnow, Altuna Akalin, Volker Haucke, Holger Gerhardt, Carmen Birchmeier, Ralf Kühn, Michael Krauss, Sebastian Diecke, Juan M Pascual, Matthias Selbach
Many disease-causing missense mutations affect intrinsically disordered regions (IDRs) of proteins, but the molecular mechanism of their pathogenicity is enigmatic. Here, we employ a peptide-based proteomic screen to investigate the impact of mutations in IDRs on protein-protein interactions. We find that mutations in disordered cytosolic regions of three transmembrane proteins (GLUT1, ITPR1, and CACNA1H) lead to an increased clathrin binding. All three mutations create dileucine motifs known to mediate clathrin-dependent trafficking...
September 20, 2018: Cell
Eleftherios Loukovitis, Konstantinos Sfakianakis, Panagiota Syrmakesi, Eleni Tsotridou, Myrsini Orfanidou, Dimitra Rafailia Bakaloudi, Maria Stoila, Athina Kozei, Spyridon Koronis, Zachos Zachariadis, Paris Tranos, Nikos Kozeis, Miltos Balidis, Zisis Gatzioufas, Aliki Fiska, George Anogeianakis
INTRODUCTION: Keratoconus (KC) is a complex, genetically heterogeneous, multifactorial degenerative disorder that is accompanied by corneal ectasia which usually progresses asymmetrically. With an incidence of approximately 1 per 2000 and 2 cases per 100,000 population presenting annually, KC follows an autosomal recessive or dominant pattern of inheritance and is, apparently, associated with genes that interact with environmental, genetic, and/or other factors. This is an important consideration in refractive surgery in the case of familial KC, given the association of KC with other genetic disorders and the imbalance between dizygotic twins...
September 6, 2018: Ophthalmology and Therapy
Jonathan D Santoro, Sarah Lee, Michael Mlynash, Thuy Nguyen, Daniel V Lazzareschi, Lironn D Kraler, Elizabeth W Mayne, Gary K Steinberg
OBJECTIVES: Individuals with Down syndrome (DS) are at risk for the development of moyamoya syndrome (MMS); MMS is often recognized only after a resulting stroke has occurred. Our goal with this study was to determine if elevations in blood pressure (BP) precede acute presentation of MMS in individuals with DS. METHODS: A single-center, retrospective case-control study was performed. Thirty patients with MMS and DS and 116 patients with DS only were identified retrospectively...
October 2018: Pediatrics
Guanqun Chao, Yingying Wang, Fangxu Ye, Shuo Zhang
PURPOSE: This study aimed to screen for differentially expressed microRNAs (miRNAs) in the colons of rats with visceral hypersensitivity to build the expression profiles of miRNAs therein and to determine the mechanism of Tongxieyaofang use in the treatment of irritable bowel syndrome (IBS). MATERIALS AND METHODS: Forty Sprague-Dawley rats were divided randomly into four groups: control group, model control group (induced by rectum stimulus and evaluated by abdominal withdraw reaction), treatment control group (normal saline), and Tongxieyaofang group (treated with Tongxieyaofang)...
October 2018: Yonsei Medical Journal
Mark I Evans, Stephanie Andriole, Jenifer Curtis, Shara M Evans, Alan A Kessler, Andrew F Rubenstein
OBJECTIVE: To assess the implications of increasing utilization of noninvasive prenatal screening (NIPS), which may reach 50% with the concomitant decrease in diagnostic procedures (DPs) for its impact on detection of chromosomal abnormalities. METHODS: We studied our program's statistics over 5 years for DPs and utilization of array comparative genomic hybridization (aCGH). We then modeled the implications in our program if DP had not fallen and nationally of a 50% DP and aCGH testing rate using well-vetted expectations for the diagnosis of abnormal copy number variants (CNVs)...
September 2018: Prenatal Diagnosis
Cesar Gonzalez, Enrique Armijo, Javiera Bravo-Alegria, Andrea Becerra-Calixto, Charles E Mays, Claudio Soto
The typical abnormalities observed in the brain of Alzheimer's disease (AD) patients include synaptic alterations, neuronal death, brain inflammation, and the accumulation of protein aggregates in the form of amyloid plaques and neurofibrillary tangles. Despite the development of many animal and in vitro models for AD, there is a lack of an experimental approach that fully recapitulates essential aspects of the disease in human cells. Here, we report the generation of a new model to study AD, consisting of cerebral organoids (COs) produced from human-induced pluripotent stem cells (iPSCs)...
August 31, 2018: Molecular Psychiatry
Liangpu Xu, Hailong Huang, Lin Zheng, Deqin He, Na Lin, Linshuo Wang, Yuan Lin
To establish gestational age-specific and body weight-specific mid-trimester normal median equations for the prenatal serum markers α-fetoprotein (AFP), free β subunit human chorionic gonadotropin (fβHCG), and unconjugated oestriol (uE3) for a Chinese population; to compare and replace the median equations built in LifeCycle software; to evaluate the effect of equations used for gestation correction on estimating risk in Down's syndrome, Edward's syndrome, and neural tube defect (NTD).A total of 353,065 cases of prenatal screening data of pregnant women were screened by 13 prenatal screening institutions in China...
August 2018: Medicine (Baltimore)
Kunal Kumar, Peter Man-Un Ung, Peng Wang, Hui Wang, Hailing Li, Mary K Andrews, Andrew F Stewart, Avner Schlessinger, Robert J DeVita
The Dual-Specificity Tyrosine Phosphorylation-Regulated Kinase 1A (DYRK1A) is an enzyme that has been implicated as an important drug target in various therapeutic areas, including neurological disorders (Down syndrome, Alzheimer's disease), oncology, and diabetes (pancreatic β-cell expansion). Current small molecule DYRK1A inhibitors are ATP-competitive inhibitors that bind to the kinase in an active conformation. As a result, these inhibitors are promiscuous, resulting in pharmacological side effects that limit their therapeutic applications...
September 5, 2018: European Journal of Medicinal Chemistry
Christopher Tomlinson, Alastair Campbell, Alison Hurley, Eoin Fenton, Neil Heron
Down syndrome (DS) is a clinical syndrome comprising typical facial features and various physical and intellectual disabilities due to extra genetic material on chromosome 21, with one in every 1000 babies born in the United Kingdom affected. Patients with Down syndrome are at risk of atlantoaxial instability (AAI). Although AAI can occur in other conditions, such as rheumatoid arthritis, this position statement deals specifically with patients with DS and asymptomatic AAI. Atlantoaxial instability, also referred to as atlantoaxial subluxation, is defined as increased movement between the first (atlas) and second (axial) cervical vertebra joint articulation, the atlantoaxial joint...
August 15, 2018: Clinical Journal of Sport Medicine: Official Journal of the Canadian Academy of Sport Medicine
Maarten Moens, Lisa Goudman, Raf Brouns, Alexis Valenzuela Espinoza, Mats De Jaeger, Eva Huysmans, Koen Putman, Jan Verlooy
BACKGROUND: Chronic pain has a substantial negative impact on work-related outcomes, which underscores the importance of interventions to reduce the burden. Spinal cord stimulation (SCS) efficiently causes pain relief in specific chronic pain syndromes. The aim of this review was to identify and summarize evidence on returning to work in patients with chronic pain treated with SCS. MATERIALS AND METHODS: A systematic literature review was performed including studies from PubMed, EMBASE, SCOPUS, and Web of Science (up till October 2017)...
August 17, 2018: Neuromodulation: Journal of the International Neuromodulation Society
Keisha Livingstone-Sinclair, Charmaine Scott, Helen Trotman
Health surveillance of children with Down's syndrome may be inadequate. We aimed to assess adherence to health management guidelines at the main paediatric hospital in Jamaica. Ours was a retrospective descriptive study over a five-year period. Data on demographics, co-morbidities, investigations, referrals and interventions were recorded. Of 41 children included in the study, 85% were diagnosed in the neonatal period. Congenital heart disease in 29 (76%) and ophthalmological disorders in 13/24 (54%) were the most common co-morbidities...
August 16, 2018: Tropical Doctor
Khalid M Alharbi, Abdelhadi H Al-Mazroea, Atiyeh M Abdallah, Yousef Almohammadi, S Justin Carlus, Sulman Basit
Down syndrome (DS) is the most common autosomal chromosome anomaly. DS is frequently associated with congenital heart disease (CHD). Patients with DS have 40-60% chance of having CHD. It means that CHD in DS is not only due to trisomy 21 and there are some other genetic factors underlying CHD in DS children. In this study, a total of 240 DNA samples from patients were analyzed including 100 patients with CHD only, 110 patients having CHD along with DS and 30 patients with isolated DS. A cardiovascular gene panel consisting of probes for 406 genes was used to screen DNA samples of all 240 patients for mutation identification...
August 13, 2018: Pediatric Cardiology
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