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https://www.readbyqxmd.com/read/29911759/medical-cognitive-and-psychiatric-characteristics-in-a-large-israeli-cohort-of-individuals-with-williams-syndrome
#1
Chen Dror, Amanda Sinai, Doron Gothelf
BACKGROUND: Williams syndrome (WS) is a neurogenetic syndrome characterized by a variety of medical conditions and cognitive deficits along with distinct psychiatric and behavioral characteristics. To the best of our knowledge, no studies to date have comprehensively reported the prevalence of medical, cognitive deficits, and psychiatric disorders in one cohort of people with WS in one study. OBJECTIVES: To detail the prevalence of the various clinical features of WS in a large nationwide Israeli cohort...
June 2018: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29884845/williams-syndrome-neuroanatomical-score-associates-with-gtf2ird1-in-large-scale-magnetic-resonance-imaging-cohorts-a-proof-of-concept-for-multivariate-endophenotypes
#2
Chun Chieh Fan, Andrew J Schork, Timothy T Brown, Barbara E Spencer, Natacha Akshoomoff, Chi-Hua Chen, Joshua M Kuperman, Donald J Hagler, Vidar M Steen, Stephanie Le Hellard, Asta Kristine Håberg, Thomas Espeseth, Ole A Andreassen, Anders M Dale, Terry L Jernigan, Eric Halgren
Despite great interest in using magnetic resonance imaging (MRI) for studying the effects of genes on brain structure in humans, current approaches have focused almost entirely on predefined regions of interest and had limited success. Here, we used multivariate methods to define a single neuroanatomical score of how William's Syndrome (WS) brains deviate structurally from controls. The score is trained and validated on measures of T1 structural brain imaging in two WS cohorts (training, n = 38; validating, n = 60)...
June 8, 2018: Translational Psychiatry
https://www.readbyqxmd.com/read/29867772/pamidronate-rescue-therapy-for-hypercalcemia-in-a-child-with-williams-syndrome
#3
Sami A Sanjad, Bilal Aoun, Halim Yammine, Amina Bassyouni, Pascale E Karam
A 15-month-old male infant diagnosed with Williams Syndrome (WS) was admitted with severe hypercalcemia and nephrocalcinosis. Intravenous hydration and furosemide failed to yield an appreciable and sustainable fall in serum calcium, while the injection of pamidronate achieved a significant decrease in serum calcium in a short period of time. This bisphosphonate could be considered as a second-line treatment for refractory hypercalcemia in WS.
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29864029/dental-age-estimation-in-children-with-chromosomal-syndromes
#4
V Pinchi, G Vitale, F Pradella, L Farese, M Focardi
When the age of an individual is unknown, age assessment refers to the procedures through which authorities try to establish the chronological age of an individual. Dental evidence demonstrated to be very effective in estimating age and dental mineralization is largely deemed a process scarcely influenced by major diseases and nutritional or environmental factors which can affect child growth. This research aims to understand the possible influence of genetic syndromes on dental maturation of affected individuals...
May 30, 2018: Journal of Forensic Odonto-stomatology
https://www.readbyqxmd.com/read/29850420/syndromes-with-aortic-involvement-pictorial-review
#5
REVIEW
Evan J Zucker
A variety of syndromes are associated with thoracoabdominal aortic pathologies. While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic disease. In this article, the syndromes most commonly encountered in clinical practice are reviewed, including Marfan syndrome (MFS) and other connective tissue disorders, Turner syndrome (TS), autosomal dominant polycystic kidney disease (ADPKD), neurofibromatosis (NF), Williams syndrome (WS), Alagille syndrome (AGS), and DiGeorge syndrome (DGS)...
April 2018: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/29793379/kawasaki-disease-in-a-patient-with-williams-syndrome
#6
Aleisha M Nabower, Lois J Starr, Jonathan Cramer
Kawasaki disease can be difficult to diagnose in infants, putting them at higher risk for developing coronary artery dilatation. It can be even more difficult to diagnose in the setting of preexisting cardiac anomalies such as those found in Williams syndrome. We present a case of a three-month-old male with Williams syndrome with rapidly developing giant coronary aneurysms due to Kawasaki disease. This case demonstrates the importance of repeat echocardiography in diagnosing incomplete Kawasaki disease in infants...
January 1, 2018: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/29774207/overview-of-social-cognitive-dysfunctions-in-rare-developmental-syndromes-with-psychiatric-phenotype
#7
REVIEW
Aurore Morel, Elodie Peyroux, Arnaud Leleu, Emilie Favre, Nicolas Franck, Caroline Demily
Rare neurodevelopmental syndromes often present social cognitive deficits that may underlie difficulties in social interactions and increase the risk of psychosis or autism spectrum disorders. However, little is known regarding the specificities of social cognitive impairment across syndromes while it remains a major challenge for the care. Our review provides an overview of social cognitive dysfunctions in rare diseases associated with psychiatric symptoms (with a prevalence estimated between 1 in 1,200 and 1 in 25,000 live births: 22q11...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29736793/a-novel-imaging-finding-in-williams-syndrome-the-coral-sign
#8
Jeremy R Burt, Kimberly Beavers, Melissa Kendall, Michael Valente, Jorge A Garcia
A 16-year-old female, with a history of Williams syndrome, presented to our institution with a 2-week history of intermittent dizziness. Holter monitoring demonstrated occasional premature ventricular contractions with rare couplets and triplets as well as one short run of nonsustained ventricular tachycardia. Echocardiography revealed an abnormal and irregular left ventricular septum with multiple mobile, pedunculated muscular projections extending into the left ventricular cavity. Cardiac MR confirmed abnormally thickened trabeculations consisting of multiple parallel ridges of myocardium crossing the left ventricle...
May 7, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29674990/emotion-recognition-as-a-real-strength-in-williams-syndrome-evidence-from-a-dynamic-non-verbal-task
#9
Laure Ibernon, Claire Touchet, Régis Pochon
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. Their performance was compared to that of 15 participants with Down syndrome (DS) and 15 typically developing (TD) children of the same non-verbal developmental age, as assessed with Raven's Colored Progressive Matrices (RCPM; Raven et al...
2018: Frontiers in Psychology
https://www.readbyqxmd.com/read/29671106/autism-spectrum-symptomatology-in-children-with-williams-syndrome-who-have-phrase-speech-or-fluent-language
#10
Bonita P Klein-Tasman, Faye van der Fluit, Carolyn B Mervis
To characterize autism spectrum-related symptomatology in children with Williams syndrome (WS) with phrase speech or fluent language, the Autism Diagnostic Observation Schedule Module 2 or 3 was administered. The cutoff for autism spectrum was met by 35% (14/40) who completed Module 2 and 30% (18/60) who completed Module 3. Similarities and differences in socio-communicative strengths and weaknesses as a function of language ability were identified. Symptom severity was negatively associated with IQ for participants with phrase speech but not for those with fluent language...
April 18, 2018: Journal of Autism and Developmental Disorders
https://www.readbyqxmd.com/read/29629267/williams-syndrome-and-right-ventricular-noncompaction-a-rare-association
#11
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
#12
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
#13
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...
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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