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Williams syndrome

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https://www.readbyqxmd.com/read/28738222/thinking-inside-the-box-spatial-frames-of-reference-for-drawing-in-williams-syndrome-and-typical-development
#1
Kerry D Hudson, Emily K Farran
BACKGROUND: Successfully completing a drawing relies on the ability to accurately impose and manipulate spatial frames of reference for the object that is being drawn and for the drawing space. Typically developing (TD) children use cues such as the page boundary as a frame of reference to guide the orientation of drawn lines. Individuals with Williams syndrome (WS) typically produce incohesive drawings; this is proposed to reflect a local processing bias. AIMS: Across two studies, we provide the first investigation of the effect of using a frame of reference when drawing simple lines and shapes in WS and TD groups (matched for non-verbal ability)...
July 21, 2017: Research in Developmental Disabilities
https://www.readbyqxmd.com/read/28736836/identification-of-adults-with-congenital-heart-disease-of-moderate-or-great-complexity-from-administrative-data
#2
Jill M Steiner, James N Kirkpatrick, Susan R Heckbert, Asma Habib, James Sibley, William Lober, J Randall Curtis
INTRODUCTION: There is relatively sparse literature on the use of administrative datasets for research in patients with adult congenital heart disease (ACHD). The goal of this analysis is to examine the accuracy of administrative data for identifying patients with ACHD who died. METHODS: A list of the International Classification of Diseases codes representing ACHD of moderate- or great-complexity was created. A search for these codes in the electronic health record of adults who received care in 2010-2016 was performed, and used state death records to identify patients who died during this period...
July 24, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28734628/adrenergic-receptor-genotypes-influence-postoperative-outcomes-in-infants-in-the-single-ventricle-reconstruction-trial
#3
Ronand Ramroop, George Manase, Danny Lu, Dorin Manase, Shan Chen, Richard Kim, Teresa Lee, William T Mahle, Kimberly McHugh, Mike Mitchell, Martin Tristani-Firouzi, Stephanie B Wechsler, Nicole S Wilder, Victor Zak, Myriam Lafreniere-Roula, Jane W Newburger, J William Gaynor, Mark W Russell, Seema Mital
OBJECTIVES: Adrenergic receptor (ADR) genotypes have been associated with adverse outcomes in heart failure. Our objective was to evaluate the association of ADR genotypes with post-Norwood outcomes in infants with hypoplastic left heart syndrome (HLHS). METHODS: Infants with HLHS participating in the Pediatric Heart Network Single-Ventricle Reconstruction Trial underwent genotyping for 4 single-nucleotide polymorphisms in 3 ADR genes: ADRB1_231A/G, ADRB1_1165G/C, ADRB2_5318C/G, and ADRA2A_2790C/T...
June 24, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28733679/increased-overall-cortical-connectivity-with-syndrome-specific-local-decreases-suggested-by-atypical-sleep-eeg-synchronization-in-williams-syndrome
#4
Ferenc Gombos, Róbert Bódizs, Ilona Kovács
Williams syndrome (7q11.23 microdeletion) is characterized by specific alterations in neurocognitive architecture and functioning, as well as disordered sleep. Here we analyze the region, sleep state and frequency-specific EEG synchronization of whole night sleep recordings of 21 Williams syndrome and 21 typically developing age- and gender-matched subjects by calculating weighted phase lag indexes. We found broadband increases in inter- and intrahemispheric neural connectivity for both NREM and REM sleep EEG of Williams syndrome subjects...
July 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28732024/4-nitrophenylsulfonyl-piperazines-mitigate-radiation-damage-to-multiple-tissues
#5
Ewa D Micewicz, Kwanghee Kim, Keisuke S Iwamoto, Josephine A Ratikan, Genhong Cheng, Gayle M Boxx, Robert D Damoiseaux, Julian P Whitelegge, Piotr Ruchala, Christine Nguyen, Prabhat Purbey, Joseph Loo, Gang Deng, Michael E Jung, James W Sayre, Andrew J Norris, Dörthe Schaue, William H McBride
Our ability to use ionizing radiation as an energy source, as a therapeutic agent, and, unfortunately, as a weapon, has evolved tremendously over the past 120 years, yet our tool box to handle the consequences of accidental and unwanted radiation exposure remains very limited. We have identified a novel group of small molecule compounds with a 4-nitrophenylsulfonamide (NPS) backbone in common that dramatically decrease mortality from the hematopoietic acute radiation syndrome (hARS). The group emerged from an in vitro high throughput screen (HTS) for inhibitors of radiation-induced apoptosis...
2017: PloS One
https://www.readbyqxmd.com/read/28731860/the-case-of-total-parenteral-nutrition-precipitated-neuroleptic-malignant-like-syndrome-in-advanced-stage-parkinson-disease
#6
William Li, Mark Saweris, Bhaskara Madhira
No abstract text is available yet for this article.
June 14, 2017: American Journal of Therapeutics
https://www.readbyqxmd.com/read/28729815/symposium-report-an-evidence-based-approach-to-ibs-and-cic-applying-new-advances-to-daily-practice-a-review-of-an-adjunct-clinical-symposium-of-the-american-college-of-gastroenterology-meeting-october-16-2016-%C3%A2-las-vegas-nevada
#7
William D Chey
Many nonpharmacologic and pharmacologic therapies are available to manage irritable bowel syndrome (IBS) and chronic idiopathic constipation (CIC). The American College of Gastroenterology (ACG) regularly publishes reviews on IBS and CIC therapies. The most recent of these reviews was published by the ACG Task Force on the Management of Functional Bowel Disorders in 2014. The key objective of this review was to evaluate the efficacy of therapies for IBS or CIC compared with placebo or no treatment in randomized controlled trials...
February 2017: Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28727859/space-flight-associated-neuro-ocular-syndrome
#8
Andrew G Lee, Thomas H Mader, C Robert Gibson, William Tarver
New and unique physiologic and pathologic systemic and neuro-ocular responses have been documented in astronauts during and after long-duration space flight. Although the precise cause remains unknown, space flight-associated neuro-ocular syndrome (SANS) has been adopted as an appropriate descriptive term. The Space Medicine Operations Division of the US National Aeronautics and Space Administration (NASA) has documented the variable occurrence of SANS in astronauts returning from long-duration space flight on the International Space Station...
July 20, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28727714/3d-morphometric-analysis-of-normal-sacroiliac-joints-a-new-classification-of-surface-shape-variation-and-the-potential-implications-in-pain-syndromes
#9
Mary Kristen Jesse, Christopher Kleck, Adam Williams, Brian Petersen, Deborah Glueck, Kimberly Lind, Vikas Patel
BACKGROUND: Normal sacroiliac (SI) joints vary widely in shape, and it is unclear whether SI joint morphology plays a role in the development of pain. To answer this question, we used 3D-CT surface rendering to image healthy study participants and used the resulting images to develop a classification system for SI joint morphology. In a case-control study comparing health research participants to patients with SI pain, we assessed whether the classification of SI joint morphology was associated with pain...
July 2017: Pain Physician
https://www.readbyqxmd.com/read/28727694/30-day-mortality-after-percutaneous-coronary-intervention-in-new-zealand-public-hospitals-anzacs-qi-18
#10
MULTICENTER STUDY
Andrew Kerr, Michael Ja Williams, Harvey White, Corina Grey, Yannan Jiang, Chris Nunn
AIM: The aim of this report is to provide hospitals in New Zealand with data about their own outcomes for percutaneous coronary intervention (PCI) procedures and allow comparisons with other New Zealand units and with international data. METHODS: All PCI procedures (n=5,033) were identified in nine public hospital catheterisation laboratories between 1 October 2014 and 30 September 2015. Risk-adjusted mortality rates were derived for each hospital and compared with the national rate...
July 21, 2017: New Zealand Medical Journal
https://www.readbyqxmd.com/read/28722481/clinical-management-of-pediatric-acute-onset-neuropsychiatric-syndrome-part-i-psychiatric-and-behavioral-interventions
#11
Margo Thienemann, Tanya Murphy, James Leckman, Richard Shaw, Kyle Williams, Cynthia Kapphahn, Jennifer Frankovich, Daniel Geller, Gail Bernstein, Kiki Chang, Josephine Elia, Susan Swedo
OBJECTIVE: This article outlines the consensus guidelines for symptomatic treatment for children with Pediatric Acute-Onset Neuropsychiatric Syndrome (PANS) and Pediatric Autoimmune Neuropsychiatric Syndrome Associated with Streptococcal Infection (PANDAS). METHODS: Extant literature on behavioral, psychotherapeutic, and psychopharmacologic treatments for PANS and PANDAS was reviewed. Members of the PANS Research Consortium pooled their clinical experiences to find agreement on treatment of PANS and PANDAS symptoms...
July 19, 2017: Journal of Child and Adolescent Psychopharmacology
https://www.readbyqxmd.com/read/28721309/retinal-pigment-epithelial-cells-are-a-potential-reservoir-for-ebola-virus-in-the-human-eye
#12
Justine R Smith, Shawn Todd, Liam M Ashander, Theodosia Charitou, Yuefang Ma, Steven Yeh, Ian Crozier, Michael Z Michael, Binoy Appukuttan, Keryn A Williams, David J Lynn, Glenn A Marsh
PURPOSE: Success of Ebola virus (EBOV) as a human pathogen relates at the molecular level primarily to blockade the host cell type I interferon (IFN) antiviral response. Most individuals who survive Ebola virus disease (EVD) develop a chronic disease syndrome: approximately one-quarter of survivors suffer from uveitis, which has been associated with presence of EBOV within the eye. Clinical observations of post-Ebola uveitis indicate involvement of retinal pigment epithelial cells. METHODS: We inoculated ARPE-19 human retinal pigment epithelial cells with EBOV, and followed course of infection by immunocytochemistry and measurement of titer in culture supernatant...
July 2017: Translational Vision Science & Technology
https://www.readbyqxmd.com/read/28719697/diagnosis-and-management-of-asthma-in-adults-a-review
#13
Jennifer L McCracken, Sreenivas P Veeranki, Bill T Ameredes, William J Calhoun
Importance: Asthma affects about 7.5% of the adult population. Evidence-based diagnosis, monitoring, and treatment can improve functioning and quality of life in adult patients with asthma. Observations: Asthma is a heterogeneous clinical syndrome primarily affecting the lower respiratory tract, characterized by episodic or persistent symptoms of wheezing, dyspnea, and cough. The diagnosis of asthma requires these symptoms and demonstration of reversible airway obstruction using spirometry...
July 18, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28718308/ulnar-shortening-versus-distal-radius-corrective-osteotomy-in-the-management-of-ulnar-impaction-after-distal-radius-malunion
#14
William R Aibinder, Ali Izadpanah, Bassem T Elhassan
BACKGROUND: Distal radius malunions lead to functional deficits. This study compares isolated ulnar shortening osteotomy (USO) to distal radius osteotomy (DRO) for the treatment of ulnar impaction syndrome following distal radius malunion. METHODS: We retrospectively reviewed 11 patients with extra-articular distal radius malunions treated for ulnar impaction with isolated USO. This group was compared to a 1:1 age- and sex-matched cohort treated with isolated DRO for the same indication...
January 1, 2017: Hand: Official Journal of the American Association for Hand Surgery
https://www.readbyqxmd.com/read/28716259/roald-dahl-and-the-complete-locked-in-syndrome-cold-dead-body-living-brain
#15
Daniel Kondziella
The classical locked-in syndrome in which partially preserved eye movements allow for communication is well-recognized by most neurologists. Yet, it is much less well-known that patients exist who are clearly conscious but have lost all means of communicating it to the outside world because they no longer have any motor output at all. Of note, Roald Dahl, the internationally acclaimed children book author, described this complete locked-in syndrome in one of his short stories, William and Mary (1959), almost half a century before the medical community became aware of this devastating condition...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28715661/cognitive-decline-and-brain-amyloid-%C3%AE-accumulation-across-3-years-in-adults-with-down-syndrome
#16
Sigan L Hartley, Benjamin L Handen, Darlynne Devenny, Iulia Mihaila, Regina Hardison, Patrick J Lao, William E Klunk, Peter Bulova, Sterling C Johnson, Bradley T Christian
Adults with Down syndrome (DS) have a high incidence of Alzheimer's disease (AD), providing a unique opportunity to explore the early, preclinical stages of AD neuropathology. We examined change in brain amyloid-β accumulation via the positron emission tomography tracer [11C] Pittsburgh compound B (PiB) across 2 data collection cycles, spaced 3 years apart, and decline in cognitive functioning in 58 adults with DS without clinical AD. PiB retention increased in the anterior cingulate gyrus, precuneus cortex, parietal cortex, and anterior ventral striatum...
June 2, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28710800/dissociation-of-spatial-memory-systems-in-williams-syndrome
#17
Mathilde Bostelmann, Emilie Fragnière, Floriana Costanzo, Silvia Di Vara, Deny Menghini, Stefano Vicari, Pierre Lavenex, Pamela Banta Lavenex
Williams syndrome (WS), a genetic deletion syndrome, is characterized by severe visuospatial deficits affecting performance on both tabletop spatial tasks and on tasks which assess orientation and navigation. Nevertheless, previous studies of WS spatial capacities have ignored the fact that two different spatial memory systems are believed to contribute parallel spatial representations supporting navigation. The place learning system depends on the hippocampal formation and creates flexible relational representations of the environment, also known as cognitive maps...
July 15, 2017: Hippocampus
https://www.readbyqxmd.com/read/28710145/a-systematic-review-of-the-effects-of-polyols-on-gastrointestinal-health-and-irritable-bowel-syndrome
#18
REVIEW
Adrienne Lenhart, William D Chey
Polyols are sugar alcohols found in certain fruits, vegetables, and sugar-free sweeteners. They make up a component of the diet low in fermentable oligosaccharides, disaccharides, monosaccharides, and polyols, which is gaining popularity in the treatment of patients with irritable bowel syndrome (IBS). We conducted a systematic review to evaluate the effects of polyols on the gastrointestinal tract in healthy men and women and in patients with IBS. Utilizing PubMed, Ovid, and Embase databases, we conducted a search on individual polyols and each of these terms: fermentation, absorption, motility, permeability, and gastrointestinal symptoms...
July 2017: Advances in Nutrition
https://www.readbyqxmd.com/read/28709820/sex-dependent-difference-in-the-relationship-between-adipose-tissue-cholesterol-efflux-and-estradiol-concentrations-in-young-healthy-humans
#19
REVIEW
Fatima Iqbal, William J Durham, Ayyash Melhem, Saleem Raslan, Tony T Tran, Traver J Wright, Rabia Asghar, Ken Fujise, Elena Volpi, Labros Sidossis, Nicola Abate, Melinda Sheffield-Moore, Demidmaa Tuvdendorj
BACKGROUND: Impaired adipose tissue function and lower levels of high density lipoprotein cholesterol (HDL-C) have been implicated in the development of vascular dementia, and metabolic diseases such as hypertension, atherosclerosis, type 2 diabetes (T2D) and metabolic syndrome. Interestingly, both the substrate fluxes in adipose tissue and HDL-C concentration differ between men and women. Moreover, adipose tissue cholesterol efflux has been implicated in modulation of HDL-C levels. Thus, we aimed to determine if the association between serum estradiol levels and adipose tissue cholesterol efflux is sex-dependent...
July 11, 2017: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/28707437/long-term-impact-of-the-low-fodmap-diet-on-gastrointestinal-symptoms-dietary-intake-patient-acceptability-and-healthcare-utilization-in-irritable-bowel-syndrome
#20
M O'Keeffe, C Jansen, L Martin, M Williams, L Seamark, H M Staudacher, P M Irving, K Whelan, M C Lomer
BACKGROUND: The low-FODMAP diet is a frequently used treatment for irritable bowel syndrome (IBS). Most research has focused on short-term FODMAP restriction; however, guidelines recommend that high-FODMAP foods are reintroduced to individual tolerance. This study aimed to assess the long-term effectiveness of the low-FODMAP diet following FODMAP reintroduction in IBS patients. METHODS: Patients with IBS were prospectively recruited to a questionnaire study following completion of dietitian-led low-FODMAP education...
July 14, 2017: Neurogastroenterology and Motility: the Official Journal of the European Gastrointestinal Motility Society
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