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https://www.readbyqxmd.com/read/28822917/coexistence-of-aberrant-hematopoietic-and-stromal-elements-in-myelodysplastic-syndromes
#1
Salar Abbas, Archana Kini, Vivi M Srivastava, Marie Therese M, Sukesh C Nair, Aby Abraham, Vikram Mathews, Biju George, Sanjay Kumar, Aparna Venkatraman, Alok Srivastava
Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic disorders related to hematopoietic stem and progenitor cell dysfunction. Several studies have shown the role of the bone marrow microenvironment in regulating hematopoietic stem, and progenitor function and their individual abnormalities have been associated with disease pathogenesis. In this study, we simultaneously evaluated hematopoietic stem cells (HSC), hematopoietic stem progenitor cells (HSPCs) and different stromal elements in a cohort of patients with MDS-refractory cytopenia with multilineage dysplasia (RCMD)...
August 9, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28818998/lower-body-negative-pressure-reduces-optic-nerve-sheath-diameter-during-head-down-tilt
#2
Karina Marshall-Goebel, Robert Terlević, Darius A Gerlach, Simone Kuehn, Edwin Mulder, Jörn Rittweger
The microgravity ocular syndrome (MOS) results in significant structural and functional ophthalmic changes during 6-month spaceflight missions consistent with an increase in cerebrospinal fluid (CSF) pressure compared to the preflight upright position. A ground-based study was performed to assess two of the major hypothesized contributors to MOS, headward fluid shifting and increased ambient CO2, on intracranial and periorbital CSF. In addition, lower body negative pressure (LBNP) was assessed as a countermeasure to headward fluid shifting...
August 17, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28818972/fertile-offspring-from-sterile-sex-chromosome-trisomic-mice
#3
Takayuki Hirota, Hiroshi Ohta, Benjamin E Powell, Shantha K Mahadevaiah, Obah A Ojarikre, Mitinori Saitou, James M A Turner
Having the correct number of chromosomes is vital for normal development and health. Sex chromosome trisomy (SCT) affects 0.1% of the human population and is associated with infertility. We show that during reprogramming to induced pluripotent stem cells (iPSC), fibroblasts from sterile trisomic XXY and XYY mice lose the extra sex chromosome, by a phenomenon we term trisomy-biased chromosome loss (TCL). Resulting euploid XY iPSCs can be differentiated into the male germ cell lineage and functional sperm that can be used in intracytoplasmic sperm injection to produce chromosomally normal, fertile offspring...
August 17, 2017: Science
https://www.readbyqxmd.com/read/28818303/nkcc1-chloride-importer-antagonists-attenuate-many-neurological-and-psychiatric-disorders
#4
REVIEW
Yehezkel Ben-Ari
In physiological conditions, adult neurons have low intracellular Cl(-) [(Cl(-))I] levels underlying the γ-aminobutyric acid (GABA)ergic inhibitory drive. In contrast, neurons have high (Cl(-))I levels and excitatory GABA actions in a wide range of pathological conditions including spinal cord lesions, chronic pain, brain trauma, cerebrovascular infarcts, autism, Rett and Down syndrome, various types of epilepsies, and other genetic or environmental insults. The diuretic highly specific NKCC1 chloride importer antagonist bumetanide (PubChem CID: 2461) efficiently restores low (Cl(-))I levels and attenuates many disorders in experimental conditions and in some clinical trials...
August 14, 2017: Trends in Neurosciences
https://www.readbyqxmd.com/read/28816027/estimation-of-live-birth-and-population-prevalence-of-down-syndrome-in-nine-u-s-states
#5
Gert de Graaf, Frank Buckley, Jennifer Dever, Brian G Skotko
For all of the U.S. states with sufficient data, we estimated live birth and population prevalences for Down syndrome (DS). As social service resources vary between states, such data are important for public policy discussions and state planning. We predicted the actual and nonselective live birth prevalence, and population prevalence, for DS in nine U.S. states based on publicly available datasets from the Centers for Disease Control and Prevention and the Integrated Public Use Microdata Series. As of 2010, we estimated a population size for people with DS of 4,554 in MA (population prevalence 1 in 1,440), 6,101 in NJ (1 in 1,443), 14,315 in NY (1 in 1,355), 9,739 in IL (1 in 1,319), 4,354 in IN (1 in 1,491), 7,295 in MI (1 in 1,354), 9,099 in FL (1 in 2,071), 3,014 in KY (1 in 1,442), and 3,596 in AZ (1 in 1,784)...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815989/can-we-improve-risk-communication-about-non-invasive-prenatal-testing
#6
Dafina Petrova, Rocio Garcia-Retamero
Diagnostic information from prenatal screening for Down syndrome can help families prepare for the birth of a child with special needs or help them decide whether they want to continue with the pregnancy. Currently in the UK women are offered the combined screening test (a blood test and an ultrasound) that categorizes them into "higher risk" or "lower risk" groups (see www.nhs.uk). Women at higher risk are offered a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS). These diagnostic tests are invasive and carry a 0...
August 17, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28815893/the-facial-morphology-in-down-syndrome-a-3d-comparison-of-patients-with-and-without-obstructive-sleep-apnea
#7
Yasas S N Jayaratne, Ibrahim Elsharkawi, Eric A Macklin, Lauren Voelz, Gil Weintraub, Dennis Rosen, Brian G Skotko
Obstructive sleep apnea (OSA) occurs at a high prevalence in patients with Down syndrome (DS). A polysomnogram, which is often cumbersome and challenging, remains the gold standard method of diagnosing OSA. OSA in patients with DS is often attributed to skeletal and soft-tissue structural alterations that are characteristic of the DS phenotype; as such, we hypothesized that assessing anthropometric facial measurements may be predictive of OSA in patients with DS. We used the 3dMDface sterophotography system to capture and create 3D facial images, and we subsequently identified facial landmarks using a single, experienced investigator and utilizing proprietary software to calculate inter-landmark distances and angles...
August 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815892/preaxial-polydactyly-in-an-individual-with-wiedemann-steiner-syndrome-caused-by-a-novel-nonsense-mutation-in-kmt2a
#8
Takashi Enokizono, Tatsuyuki Ohto, Ryuta Tanaka, Mai Tanaka, Hisato Suzuki, Aiko Sakai, Kazuo Imagawa, Hiroko Fukushima, Atsushi Iwabuti, Takashi Fukushima, Ryo Sumazaki, Tomoko Uehara, Toshiki Takenouchi, Kenjiro Kosaki
Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder characterized by hypertrichosis, intellectual disability, and dysmorphic facial appearances (down-slanted vertically narrow palpebral fissures, wide nasal bridge, broad nasal tip, and thick eyebrows). In 2012, Jones and co-workers identified heterozygous mutations in KMT2A (lysine methyltransferase 2A) as the molecular cause of WDSTS. Although the phenotype of this syndrome continues to expand, the associated features are not fully understood...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815878/prediction-of-energy-expenditure-during-walking-in-adults-with-down-syndrome
#9
Stamatis Agiovlasitis, Goncalo V Mendonca, Jeffrey A McCubbin, Bo Fernhall
BACKGROUND: When developing walking programmes for improving health in adults with Down syndrome (DS), physical activity professionals are in need of an equation for predicting energy expenditure. We therefore developed and cross-validated an equation for predicting the rate of oxygen uptake (VO2 ; an index of energy expenditure) for adults with and without DS. METHOD: A total of 469 VO2 observations during walking across different speeds were available from 54 adults with DS and 61 adults without DS...
August 16, 2017: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/28814979/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#10
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28811097/type-i-collagen-promotes-primary-cilia-growth-through-down-regulating-hdac6-mediated-autophagy-in-confluent-mouse-embryo-fibroblast-3t3-l1-cells
#11
Qian Xu, Weiwei Liu, Xiaoling Liu, Wuxiyar Otkur, Toshihiko Hayashi, Masayuki Yamato, Hitomi Fujisaki, Shunji Hattori, Shin-Ichi Tashiro, Takashi Ikejima
Primary cilia are microtubule-based organelles that extend from nearly all vertebrate cells. Abnormal ciliogenesis and cilia length are suggested to be associated with hypertension and obesity as well as diseases such as Meckel-Gruber syndrome. Extracellular matrix (ECM), comprising cellular microenvironment, influences cell shape and proliferation. However, influence of ECM on cilia biogenesis has not been well studied. In this study we examined the effects of type I collagen (col I), the major component of ECM, on primary cilia growth...
August 12, 2017: Journal of Bioscience and Bioengineering
https://www.readbyqxmd.com/read/28809040/a-mobile-app-for-sharing-contacts-on-your-cell-an-editorial-highlight-for-the-physiological-role-of-the-amyloid-precursor-protein-app-as-an-adhesion-molecule-in-the-developing-nervous-system-on-doi-10-1111-jnc-14122
#12
EDITORIAL
George William Rebeck, Daniel T S Pak
This is an Editorial for a review that Sosa and coworkers present in the current issue of the Journal of Neurochemistry of physiological functions for amyloid precursor protein (APP) at dynamic cellular contact sites such as growth cones, neuronal migration tracts, and synapses. Here, APP physically links the extracellular and intracellular milieus through a multitude of binding partners. From these observations, the authors offer a model of APP as a cell adhesion molecule in the brain, providing a context for understanding its role in Alzheimer's disease and Down syndrome...
August 15, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28807816/mtor-in-down-syndrome-role-in-a%C3%A3-and-tau-neuropathology-and-transition-to-alzheimer-disease-like-dementia
#13
REVIEW
Fabio Di Domenico, Antonella Tramutola, Cesira Foppoli, Elisabeth Head, Marzia Perluigi, D Allan Butterfield
The mammalian target of rapamycin (mTOR) is a serine/threonine protein kinase involved in the regulation of protein synthesis and degradation, longevity and cytoskeletal formation. The mTOR pathway represents a key growth and survival pathway involved in several diseases such as cancer, obesity, cardiovascular disease and neurodegenerative diseases. Numerous studies linked the alterations of mTOR pathway to age-dependent cognitive decline, pathogenesis of Alzheimer disease (AD) and AD-like dementia in Down syndrome (DS)...
August 11, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28806899/executive-functioning-in-cornelia-de-lange-syndrome-domain-asynchrony-and-age-related-performance
#14
Donna Reid, Jo Moss, Lisa Nelson, Laura Groves, Chris Oliver
BACKGROUND: The aim of this study was to examine executive functioning in adolescents and adults with Cornelia de Lange syndrome (CdLS) to identify a syndrome and age-related profile of cognitive impairment. METHODS: Participants were 24 individuals with CdLS aged 13-42 years (M = 22; SD = 8.98), and a comparable contrast group of 21 individuals with Down syndrome (DS) aged 15-33 years (M = 24; SD = 5.82). Measures were selected to test verbal and visual fluency, inhibition, perseverance/flexibility, and working memory and comprised both questionnaire and performance tests...
August 15, 2017: Journal of Neurodevelopmental Disorders
https://www.readbyqxmd.com/read/28806354/trends-in-adult-chlamydia-and-gonorrhea-prevalence-incidence-and-urethral-discharge-case-reporting-in-morocco-over-1995-2015-estimates-using-the-spectrum-sexually-transmitted-infection-model
#15
Amina El-Kettani, Guy Mahiané, Aziza Bennani, Laith Abu-Raddad, Alex Smolak, Jane Rowley, Nico Nagelkerke, Houssine El-Rhilani, Kamal Alami, Amina Hançali, Eline Korenromp
BACKGROUND: Evolving health priorities and resource constraints mean that countries require data on sexually transmitted infections (STI) trends to inform program planning and resource allocation. METHODS: The Spectrum modeling tool estimated prevalence and incidence of gonorrhea and chlamydia in Morocco's 15- to 49-year-old population, based on prevalence surveys. Incident cases, broken down between symptomatic and asymptomatic, and treated versus untreated, were compared with urethral discharge (UD) case reports, to estimate reporting completeness among treated UD cases...
September 2017: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28805618/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-21q11-2-q21-1-and-a-literature-review
#16
Chih-Ping Chen, Ming Chen, Chia-Hsun Wu, Chen-Ju Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Shun-Ping Chang, Li-Feng Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 21q11.2-q21.1, and we review the literature of an sSMC(21) with a duplication of 21q11.2-q21.1. CASE REPORT: A 40-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XX,+mar [18]/46,XX [4]. The parental karyotypes were normal...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805616/prenatal-diagnosis-and-molecular-cytogenetic-characterization-of-mosaicism-for-a-small-supernumerary-marker-chromosome-derived-from-chromosome-16
#17
Chih-Ping Chen, Tsang-Ming Ko, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chien-Wen Yang, Chen-Wen Pan, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of a small supernumerary marker chromosome (sSMC) derived from chromosome 16. CASE REPORT: A 28-year-old woman underwent amniocentesis at 17 weeks of gestation because of abnormal maternal serum screening for Down syndrome. Amniocentesis revealed a karyotype of 47,XY,+mar[5]/46,XY[9]. Parental karyotypes were normal. Prenatal ultrasound findings were unremarkable. Array comparative genomic hybridization (aCGH) analysis of cultured amniocytes revealed a de novo 16% gene dosage increase of 16q11...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28803895/periderm-life-cycle-and-function-during-orofacial-and-epidermal-development
#18
REVIEW
Nigel L Hammond, Jill Dixon, Michael J Dixon
Development of the secondary palate involves a complex series of embryonic events which, if disrupted, result in the common congenital anomaly cleft palate. The secondary palate forms from paired palatal shelves which grow initially vertically before elevating to a horizontal position above the tongue and fusing together in the midline via the medial edge epithelia. As the epithelia of the vertical palatal shelves are in contact with the mandibular and lingual epithelia, pathological fusions between the palate and the mandible and/or the tongue must be prevented...
August 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28803248/a-functional-assay-for-sick-sinus-syndrome-genetic-variants
#19
Chuanchau J Jou, Cammon B Arrington, Spencer Barnett, Jiaxiang Shen, Scott Cho, Xiaoming Sheng, Patrick C McCullagh, Neil E Bowles, Chase M Pribble, Elizabeth V Saarel, Thomas A Pilcher, Susan P Etheridge, Martin Tristani-Firouzi
BACKGROUND/AIMS: Congenital Sick Sinus Syndrome (SSS) is a disorder associated with sudden cardiac death due to severe bradycardia and prolonged pauses. Mutations in HCN4, the gene encoding inward Na+/K+ current (If), have been described as a cause of congenital SSS. The objective of this study is to develop an SSS model in embryonic zebrafish, and use zebrafish as a moderate-throughput assay to functionally characterize HCN4 variants. METHODS: To determine the function of hcn4 in zebrafish, embryos were either bathed in the If -specific blocker (ZD-7288), or endogenous hcn4 expression was knocked down using splice-blocking morpholinos...
August 11, 2017: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/28802352/assessment-of-weight-gain-following-adenotonsillectomy-in-children-with-down-syndrome
#20
Christopher F D'Esposito, Zachary Farhood, Andrew B Baker, Shaun A Nguyen, Angela C LaRosa, Chitra Lal, David R White
INTRODUCTION: Adenotonsillectomy (T&A) has been associated with postoperative weight gain in children. The purpose of this study is to determine whether a similar association exists in children with Down syndrome (DS). METHODS: The medical records of 311 DS patients were reviewed. Subjects were classified into either a control group or surgical group based on whether they had undergone adenotonsillectomy (T&A). Subjects were excluded if they only had one recorded BMI...
September 2017: International Journal of Pediatric Otorhinolaryngology
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