keyword
MENU ▼
Read by QxMD icon Read
search

"williams syndrome"

keyword
https://www.readbyqxmd.com/read/29629267/williams-syndrome-and-right-ventricular-noncompaction-a-rare-association
#1
Prashanth Panduranga, Mamatha Punjee Rajarao
Ventricular noncompaction and Williams syndrome are genetic disorders with typical clinical and echocardiographic cardiovascular manifestations. Here, we describe a young patient with rare association of clinical phenotype suggestive of Williams syndrome and right ventricular noncompaction.
January 2018: Journal of Cardiovascular Echography
https://www.readbyqxmd.com/read/29614955/a-method-for-determining-haploid-and-triploid-genotypes-and-their-association-with-vascular-phenotypes-in-williams-syndrome-and-7q11-23-duplication-syndrome
#2
Michael D Gregory, Bhaskar Kolachana, Yin Yao, Tiffany Nash, Dwight Dickinson, Daniel P Eisenberg, Carolyn B Mervis, Karen F Berman
BACKGROUND: Williams syndrome ([WS], 7q11.23 hemideletion) and 7q11.23 duplication syndrome (Dup7) show contrasting syndromic symptoms. However, within each group there is considerable interindividual variability in the degree to which these phenotypes are expressed. Though software exists to identify areas of copy number variation (CNV) from commonly-available SNP-chip data, this software does not provide non-diploid genotypes in CNV regions. Here, we describe a method for identifying haploid and triploid genotypes in CNV regions, and then, as a proof-of-concept for applying this information to explain clinical variability, we test for genotype-phenotype associations...
April 4, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29601225/functional-basic-reading-skills-in-williams-syndrome
#3
Gabrielle Brawn, Saskia Kohnen, May Tassabehji, Melanie Porter
This study investigated whether individuals with Williams syndrome (WS) can attain a functional level of basic reading skills. The Study also investigated broader cognitive factors associated with reading ability in individuals with WS. Thirty individuals with WS participated in this study (mean chronological age 21 years and mean mental age 7 years 7 months). The results supported our hypotheses that: firstly, reading abilities would be heterogeneous in WS; secondly, at least some WS individuals are capable of achieving a functional basic reading level; and thirdly, on average, WS individuals would find reading of nonwords more difficult than reading of regular and irregular words...
March 30, 2018: Developmental Neuropsychology
https://www.readbyqxmd.com/read/29572733/williams-syndrome-and-anesthesia-for-non-cardiac-surgery-high-risk-can-be-mitigated-with-appropriate-planning
#4
Morgan L Brown, Viviane G Nasr, Rebecca Toohey, James A DiNardo
Patients with Williams syndrome are considered at high risk for anesthesia-related adverse events. At our institution, all William syndrome patients undergoing cardiac surgical, cardiac catheterization/interventional procedures, and cardiac imaging studies are cared for by cardiac anesthesiologists. All William syndrome patients undergoing non-cardiac surgical, interventional, or imaging studies are cared for by main operating room pediatric anesthesiologists with consultative input from a cardiac anesthesiologist...
March 23, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29557107/array-comparative-genomic-hybridization-as-the-first-line-investigation-for-neonates-with-congenital-heart-disease-experience-in-a-single-tertiary-center
#5
Bo Geum Choi, Su Kyung Hwang, Jung Eun Kwon, Yeo Hyang Kim
BACKGROUND AND OBJECTIVES: The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD). METHODS: Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled...
March 2018: Korean Circulation Journal
https://www.readbyqxmd.com/read/29544418/brom-aortoplasty-for-supravalvular-aortic-stenosis
#6
Michael C Mongé, Osama M Eltayeb, John M Costello, Joyce T Johnson, Andrada R Popescu, Cynthia K Rigsby, Carl L Backer
BACKGROUND: Controversy remains regarding the optimal surgical approach for children with supravalvular aortic stenosis (SVAS). METHODS: Since 1997 we have used Brom three-patch aortoplasty for patients with SVAS. We prefer computed tomography (CT) imaging for preoperative evaluation rather than cardiac catheterization as it avoids the well-known morbidity of general anesthesia. The purpose of this study was to present our intermediate-term results of this strategy...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29375905/double-chambered-right-ventricle-in-a-16-year-old-patient-with-williams-syndrome
#7
Wojciech Mądry, Maciej A Karolczak, Ewa Zacharska-Kokot
We present a case of double-chambered right ventricle diagnosed during preparation for colonoscopy due to gastrointestinal bleeding in a 16-year-old, mentally disabled boy with Williams syndrome. The patient was previously diagnosed with ventricular septal defect and mild pulmonary stenosis. Echocardiography performed under general anesthesia revealed hypertrophied muscular bundles in the right ventricle with the maximum gradient of 100 mmHg, causing severe outflow obstruction. This type of defect is extremely rare in patients with Williams syndrome, with only one case, which was diagnosed during invasive angiocardiography, described in world literature...
December 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/29353707/attentional-rather-than-sensory-differences-characterize-auditory-processing-in-williams-syndrome
#8
Magdalene Jacobs, Elisabeth M Dykens, Alexandra P Key
Individuals with Williams Syndrome (WS) exhibit an atypical auditory profile. Across two experiments, we used event-related potentials (ERPs) in a three-stimulus auditory oddball task to examine early sensory (P1, N1, P2) and later cognitive (P3a, P3b) stages of cortical auditory processing in adults with WS and age-matched typical peers. In Study 1, piano chords served as standard, target, and novel stimuli; whereas, in Study 2, a variety of non-piano sounds comprised the novel stimuli. Across both experiments, there were no group differences in the earliest stages of sensory encoding (P1, N1), along with evidence for atypically large P2 responses in participants with WS...
March 2018: Brain and Cognition
https://www.readbyqxmd.com/read/29331595/the-interaction-between-neurocognitive-functioning-subthreshold-psychotic-symptoms-and-pharmacotherapy-in-22q11-2-deletion-syndrome-a-longitudinal-comparative-study
#9
R Weinberger, O Weisman, Y Guri, T Harel, A Weizman, D Gothelf
BACKGROUND: The 22q11.2 deletion syndrome (22q11DS) is the most common genetic syndrome associated with schizophrenia. The goal of this study was to evaluate longitudinally the interaction between neurocognitive functioning, the presence of subthreshold psychotic symptoms (SPS) and conversion to psychosis in individuals with 22q11DS. In addition, we attempted to identify the specific neurocognitive domains that predict the longitudinal evolution of positive and negative SPS, as well as the effect of psychiatric medications on 22q11DS psychiatric and cognitive developmental trajectories...
February 2018: European Psychiatry: the Journal of the Association of European Psychiatrists
https://www.readbyqxmd.com/read/29305905/the-contribution-of-gtf2i-haploinsufficiency-to-williams-syndrome
#10
REVIEW
Thanathom Chailangkarn, Chalongrat Noree, Alysson R Muotri
Williams syndrome (WS) is a neurodevelopmental disorder involving hemideletion of as many as 26-28 genes, resulting in a constellation of unique physical, cognitive and behavior phenotypes. The haploinsufficiency effect of each gene has been studied and correlated with phenotype(s) using several models including WS subjects, animal models, and peripheral cell lines. However, links for most of the genes to WS phenotypes remains unclear. Among those genes, general transcription factor 2I (GTF2I) is of particular interest as its haploinsufficiency is possibly associated with hypersociability in WS...
January 3, 2018: Molecular and Cellular Probes
https://www.readbyqxmd.com/read/29280247/learning-by-observation-and-learning-by-doing-in-down-and-williams-syndromes
#11
Francesca Foti, Deny Menghini, Paolo Alfieri, Floriana Costanzo, Laura Mandolesi, Laura Petrosini, Stefano Vicari
New skills may be learned by active experience (experiential learning or learning by doing) or by observation of others' experience (learning by observation). In general, learning by observation reduces the time and the attempts needed to learn complex actions and behaviors. The present research aimed to compare learning by observation and learning by doing in two clinical populations with different etiology of intellectual disability (ID), as individuals with Down syndrome (DS) and individuals with Williams syndrome (WS), with the hypothesis that specific profiles of learning may be found in each syndrome...
December 26, 2017: Developmental Science
https://www.readbyqxmd.com/read/29229231/associations-between-social-functioning-adhd-symptomatology-and-emotion-functioning-in-children-with-autism-spectrum-disorder-and-williams-syndrome
#12
Rowena Ng PhD, Ursula Bellugi EdD, Doris Trauner Md
No abstract text is available yet for this article.
February 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29227713/a-case-report-of-in-utero-williams-syndrome-arterial-malformation
#13
Andrew John Kobalka, Robert E Mrak, William T Gunning
INTRODUCTION: Williams syndrome (WS), an autosomal dominant condition linked to gene deletions on chromosome 7, can cause supravalvular aortic narrowing and death. WS-associated mutations are believed to disrupt arterial elastin fibers, causing smooth muscle malformation, endomysial fibrosis and severe hypertension. Previous studies demonstrated arterial ultrastructural anomalies in adult WS patients. It is not presently known if the arterial phenotype of WS is also present in utero. CASE REPORT: A 34-week stillborn was delivered to a 28-year-old with genetically confirmed WS...
December 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29226900/diffuse-hypoplasia-of-the-aortic-arch-and-isthmus-in-a-patient-with-williams-syndrome
#14
İsmihan Selen Onan, Erkut Öztürk, Aylin Demirel Başgöze, Ayse Çicek, Burak Onan
Williams syndrome is a rare neurodevelopmental disorder characterized by mental retardation, growth deficiency, hypercalcemia, cardiac defects, and a distinctive facial appearance. Cardiovascular abnormalities are present in approximately 80% of Williams syndrome patients. Surgical treatment is generally performed for supravalvular aortic stenosis, aortic coarctation, pulmonary artery stenosis, or ventricular septal defect. In rare cases, diffuse hypoplasia of the aortic arch with a normal left ventricular outflow tract and ascending aorta may be diagnosed in early childhood...
December 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/29196666/sigma-frequency-dependent-motor-learning-in-williams-syndrome
#15
Andrea Berencsi, Róbert Bódizs, Ferenc Gombos, Szandra László, Ilona Kovács
There are two basic stages of fine motor learning: performance gain might occur during practice (online learning), and improvement might take place without any further practice (offline learning). Offline learning, also called consolidation, has a sleep-dependent stage in terms of both speed and accuracy of the learned movement. Sleep spindle or sigma band characteristics affect motor learning in typically developing individuals. Here we ask whether the earlier found, altered sigma activity in a neurodevelopmental disorder (Williams syndrome, WS) predicts motor learning...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29164439/brief-report-major-depressive-disorder-with-psychotic-features-in-williams-syndrome-a-case-series
#16
Francisca Valdes, Christopher J Keary, Jennifer E Mullett, Michelle L Palumbo, Jessica L Waxler, Barbara R Pober, Christopher J McDougle
Descriptions of individuals with Williams syndrome (WS) and co-morbid major depressive disorder (MDD) with psychotic features have not appeared in the literature. In addition to reviewing previous reports of psychotic symptoms in persons with WS, this paper introduces clinical histories and therapeutic management strategies for three previously unreported adults with WS diagnosed with co-morbid MDD with psychotic features. Co-morbid medical disorders common in WS are highlighted with regard to safe and appropriate pharmacological treatment...
November 21, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29153020/-williams-beuren-syndrome-williams-syndrome-case-report
#17
Györgyi Miklós, György Fekete, Irén Haltrich, Miklós Tóth, Péter Reismann
Williams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged...
November 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/29127763/thyroid-evaluation-of-children-and-adolescents-with-williams-syndrome-in-zhejiang-province
#18
Wei-Jun Chen, Chai Ji, Dan Yao, Zheng-Yan Zhao
BACKGROUND: The objective of the study was to describe the prevalence of abnormal thyroid function and volume in children and adolescents with Williams syndrome (WS) in Zhejiang Province, China. METHODS: Thyroid function, including thyroid-stimulating hormone (TSH), free triiodothyronine (fT3), free thyroxine (fT4), and thyroid antibodies (thyroid peroxidase and thyroglobulin) were measured in 83 patients with WS, aged 0.2-16.5 years. Twenty-three patients were followed for an average of 1...
November 27, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29124472/anxiety-in-williams-syndrome-the-role-of-social-behaviour-executive-functions-and-change-over-time
#19
Elise Ng-Cordell, Mary Hanley, Alyssa Kelly, Deborah M Riby
Anxiety is a prevalent mental health issue for individuals with Williams syndrome (WS). Relatively little is known about the developmental course of anxiety, or how it links with core features of WS, namely social and executive functioning (EF). In this study, parent-reports of anxiety were compared across a 4-year period (N = 17), and links between anxiety, social and EF were explored from concurrent parent-reports (N = 26). Results indicated that high anxiety persisted over time, and anxiety was related to impairments in both social and executive functioning...
November 9, 2017: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29113538/acquired-von-willebrand-syndrome-in-an-infant-with-coarctation-of-the-aorta-and-williams-syndrome
#20
Clinton D Cochran, Rohit S Madani, Daniel Peltier, Steven Pipe, Sonal T Owens
An infant with coarctation of the aorta and Williams syndrome was noted to have petechiae in cardiology clinic prior to planned surgical intervention. Workup revealed acquired von Willebrand syndrome secondary to the high shear force generated by the aortic coarctation. He was treated with intra- and postoperative Humate P; there were no postoperative bleeding complications. His acquired von Willebrand syndrome resolved postoperatively.
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
keyword
keyword
92220
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"