The Experts below are selected from a list of 9201 Experts worldwide ranked by ideXlab platform
J Kachaner - One of the best experts on this subject based on the ideXlab platform.
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mechanical properties of the common carotid artery in Williams Syndrome
Heart, 2000Co-Authors: Y Aggoun, J Kachaner, D Sidi, B I Levy, Stanislas Lyonnet, Damien BonnetAbstract:OBJECTIVE To determine whether arterial wall hypertrophy in elastic arteries was associated with alteration in their mechanical properties in young patients with Williams Syndrome. METHODS Arterial pressure and intima–media thickness, cross sectional compliance, distensibility, circumferential wall stress, and incremental elastic modulus of the common carotid artery were measured non-invasively in 21 Williams patients (mean (SD) age 8.5 (4) years) and 21 children of similar age. RESULTS Systolic and diastolic blood pressures were higher in Williams patients (125/66 v 113/60 mm Hg, p v 0.5 (0.03) mm (p v 3.0 (0.7) mm Hg, p v 0.8 (0.3) mm Hg −1 .10 −2 , p v 0.15 (0.05) mm 2 .mm Hg −1 , p > 0.05), and lower incremental elastic modulus (7.4 (2.0) v 14.0 (5.0) mm Hg.10 2 ; p CONCLUSIONS The compliance of the large elastic arteries is not modified in Williams Syndrome, even though increased intima–media thickness and lower arterial stiffness are consistent features. Therefore systemic hypertension cannot be attributed to impaired compliance of the arterial tree in this condition.
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progressive left main coronary artery obstruction leading to myocardial infarction in a child with Williams Syndrome
European Journal of Pediatrics, 1997Co-Authors: Damien Bonnet, V Cormier, E Villain, P Bonhoeffer, J KachanerAbstract:We report a 3-year-old child with Williams Syndrome in whom the first vascular feature of the Syndrome was a myocardial infarction related to the occlusion of the left main coronary artery trunk. This coronary artery occlusion was not associated with supravalvular aortic stenosis.
Damien Bonnet - One of the best experts on this subject based on the ideXlab platform.
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mechanical properties of the common carotid artery in Williams Syndrome
Heart, 2000Co-Authors: Y Aggoun, J Kachaner, D Sidi, B I Levy, Stanislas Lyonnet, Damien BonnetAbstract:OBJECTIVE To determine whether arterial wall hypertrophy in elastic arteries was associated with alteration in their mechanical properties in young patients with Williams Syndrome. METHODS Arterial pressure and intima–media thickness, cross sectional compliance, distensibility, circumferential wall stress, and incremental elastic modulus of the common carotid artery were measured non-invasively in 21 Williams patients (mean (SD) age 8.5 (4) years) and 21 children of similar age. RESULTS Systolic and diastolic blood pressures were higher in Williams patients (125/66 v 113/60 mm Hg, p v 0.5 (0.03) mm (p v 3.0 (0.7) mm Hg, p v 0.8 (0.3) mm Hg −1 .10 −2 , p v 0.15 (0.05) mm 2 .mm Hg −1 , p > 0.05), and lower incremental elastic modulus (7.4 (2.0) v 14.0 (5.0) mm Hg.10 2 ; p CONCLUSIONS The compliance of the large elastic arteries is not modified in Williams Syndrome, even though increased intima–media thickness and lower arterial stiffness are consistent features. Therefore systemic hypertension cannot be attributed to impaired compliance of the arterial tree in this condition.
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progressive left main coronary artery obstruction leading to myocardial infarction in a child with Williams Syndrome
European Journal of Pediatrics, 1997Co-Authors: Damien Bonnet, V Cormier, E Villain, P Bonhoeffer, J KachanerAbstract:We report a 3-year-old child with Williams Syndrome in whom the first vascular feature of the Syndrome was a myocardial infarction related to the occlusion of the left main coronary artery trunk. This coronary artery occlusion was not associated with supravalvular aortic stenosis.
Mark T Keating - One of the best experts on this subject based on the ideXlab platform.
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genetic approaches to cardiovascular disease supravalvular aortic stenosis Williams Syndrome and long qt Syndrome
Circulation, 1995Co-Authors: Mark T KeatingAbstract:Background Although family history can be an important risk factor for cardiovascular disease, relatively little is known about the nature of specific genetic risk factors. One approach to this problem is to identify and characterize genes responsible for inherited disorders in the hope that this information will also provide mechanistic insight into common forms of cardiovascular disease. Methods and Results Over the last decade, it has become possible to identify genes that cause human disease by use of the techniques of molecular genetics, specifically genetic linkage analysis, positional cloning, and mutational analyses. We have used these techniques to study three inherited cardiovascular disorders: supravalvular aortic stenosis, Williams Syndrome, and long-QT Syndrome. We have discovered that the vascular pathology of supravalvular aortic stenosis and Williams Syndrome results from mutations involving the elastin gene on chromosome 7q11.23. These mutations include intragenic deletions, translocation...
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hemizygosity at the elastin locus in a developmental disorder Williams Syndrome
Nature Genetics, 1993Co-Authors: Amanda K Ewart, Mark Leppert, K Sternes, P Spallone, A D Stock, Colleen A Morris, Donald L. Atkinson, Mark T KeatingAbstract:Williams Syndrome (WS) is a developmental disorder affecting connective tissue and the central nervous system. A common feature of WS, supravalvular aortic stenosis, is also a distinct autosomal dominant disorder caused by mutations in the elastin gene. In this study, we identified hemizygosity at the elastin locus using genetic analyses in four familial and five sporadic cases of WS. Fluorescent in situ hybridization and quantitative Southern analyses confirmed these findings, demonstrating inherited and de novo deletions of the elastin gene. These data indicate that deletions involving one elastin allele cause WS and implicate elastin hemizygosity in the pathogenesis of the disease.
Michael De Moor - One of the best experts on this subject based on the ideXlab platform.
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sudden cardiac death under anesthesia in pediatric patient with Williams Syndrome a case report and review of literature
Annals of Cardiac Anaesthesia, 2010Co-Authors: Punkaj Gupta, Michael De Moor, Joseph D Tobias, Sunali Goyal, Martin Miller, Elliot Melendez, Natan Noviski, Vipin MehtaAbstract:Williams Syndrome is a complex Syndrome characterized by developmental abnormalities, craniofacial dysmorphic features, and cardiac anomalies. Sudden death has been described as a very common complication associated with anesthesia, surgery, and procedures in this population. Anatomical abnormalities associated with the heart pre-dispose these individuals to sudden death. In addition to a sudden and rapid downhill course, lack of response to resuscitation is another significant feature seen in these patients. The authors report a five-year-old male with Williams Syndrome, hypothyroidism, and attention deficit hyperactivity disorder. He suffered an anaphylactic reaction during CT imaging with contrast. Resuscitation was unsuccessful. Previous reports regarding the anesthetic management of patients with Williams are reviewed and the potential for sudden death or peri-procedure related cardiac arrest discussed in this report. The authors also review reasons for refractoriness to defined resuscitation guidelines in this patient population.
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dynamic left main coronary artery obstruction associated with Williams Syndrome
Circulation, 2009Co-Authors: Bryan P Yan, Thomas J Kiernan, Kenneth Rosenfield, Joseph M Garasic, Michael De MoorAbstract:A 5-year-old boy with Williams Syndrome (WS) presented with a history of diffuse recurrent obstructive vascular disease. At the age of 12 months, he underwent pericardial patch augmentation of the ascending aorta and pulmonary arteries. He subsequently required Dacron patch repair of the ascending aorta and aortic arch at 3 years of age. In the interim, he had undergone percutaneous transluminal angioplasty and stenting for recurrent peripheral pulmonary artery stenoses and aortic recoarctation. On routine follow-up, he was found to have worsening right ventricular hypertension associated with disparate lung perfusion on a nuclear perfusion scan. He was brought to the catheterization laboratory for further investigation. Angiography showed recurrent pulmonary artery in-stent restenosis and aortic recoarctation. Coronary …
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carotid artery stent migration in a child with Williams Syndrome
Pediatric Cardiology, 2009Co-Authors: Bryan P Yan, Kenneth Rosenfield, Joseph M Garasic, Michael De MoorAbstract:We report a case of distal migration of a stent from the brachiocephalic artery to the distal right common carotid artery 7 months after implantation in a 5-year-old child with Williams Syndrome. There were no neurological sequelae and the migrated stent remained widely patent 5 years following implantation.
Ursula Bellugi - One of the best experts on this subject based on the ideXlab platform.
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morphological differences in the mirror neuron system in Williams Syndrome
Social Neuroscience, 2016Co-Authors: Rowena Ng, Matthew Erhart, Anna Jarvinen, Timothy T Brown, Julie R. Korenberg, Ursula Bellugi, Eric HalgrenAbstract:Williams Syndrome (WS) is a genetic condition characterized by an overly gregarious personality, including high empathetic concern for others. Although seemingly disparate from the profile of autism spectrum disorder (ASD), both are associated with deficits in social communication/cognition. Notably, the mirror neuron system (MNS) has been implicated in social dysfunction for ASD; yet, the integrity of this network and its association with social functioning in WS remains unknown. Magnetic resonance imaging (MRI) methods were used to examine the structural integrity of the MNS of adults with WS versus typically developing (TD) individuals. The Social Responsiveness Scale (SRS), a tool typically used to screen for social features of ASD, was also employed to assess the relationships between social functioning with the MNS morphology in WS participants. WS individuals showed reduced cortical surface area of MNS substrates yet relatively preserved cortical thickness as compared to TD adults. Increased cortic...
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musicality correlates with sociability and emotionality in Williams Syndrome
Journal of Mental Health Research in Intellectual Disabilities, 2013Co-Authors: Philip Lai, Daniel J Levitin, Ursula BellugiAbstract:Williams Syndrome (WS) is a neurogenetic developmental disorder characterized by peaks and valleys of cognitive abilities. One peak that has been understudied is the affinity that many individuals with WS have with music. It remains unknown whether their high levels of musical interest, skill, and expressivity are related to their sociable personality or their verbal intelligence. We examined the relationships between musicality (musical interest, creativity, and expressivity), sociability (social-emotionality, social approach), and language comprehension in WS and typically developing (TD) controls. Findings suggest that emotion-expressivity through music in WS may be linked to sensitivity and responsivity to emotions of others, whereas general interest in music may be related to greater linguistic capacity in TD individuals. Musicality and sociability may be more closely related in WS relative to typical development. Implications for future interventions for this neurodevelopmental condition are discussed.
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atypical hemispheric asymmetry in the perception of negative human vocalizations in individuals with Williams Syndrome
Neuropsychologia, 2010Co-Authors: Anna Jarvinenpasley, Julie R. Korenberg, Allan L. Reiss, Seth D Pollak, Anna Yam, Kiley J Hill, Mark Grichanik, Debra L Mills, Ursula BellugiAbstract:Williams Syndrome is a neurological condition associated with high levels of auditory reactivity and emotional expression combined with impaired perception of prosody. Yet, little is currently known about the neural organization of affective auditory processing in individuals with this disorder. The current study examines auditory emotion processing in individuals with Williams Syndrome. Hemispheric organization for positive and negative human non-linguistic sound processing was compared in participants with and without the disorder using a dichotic listening paradigm. While controls exhibited an expected right cerebral hemisphere advantage for processing negative sounds, those with Williams Syndrome showed the opposite pattern. No differences between the groups emerged for the positive stimuli. The results suggest aberrant processing of negative auditory information in Williams Syndrome.
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dorsal stream motion processing deficits persist into adulthood in Williams Syndrome
Neuropsychologia, 2006Co-Authors: J Atkinson, Oliver Braddick, J Wattambell, Fredric E Rose, Yvonne M Searcy, Ursula BellugiAbstract:Previous studies of children with Williams Syndrome (WS) have found a specific deficit in dorsal cortical stream function, indicated by poor performance in coherence thresholds for motion compared to form. Here we investigated whether this is a transient developmental feature or a persisting aspect of cerebral organization in WS. Motion and form coherence thresholds were tested in a group of 45 WS individuals aged 16-42 years, and 19 normal adult controls.Although there was considerable variation in the coherence thresholds across individuals with WS, the WS group showed overall worse performance than controls. A significant group x threshold condition interaction showed a substantially greater performance deficit for motion than for form coherence in the WS group relative to controls. This result suggests that the motion deficit is an enduring feature in WS and is a marker for one aspect of dorsal-stream vulnerability. (c) 2005 Elsevier Ltd. All rights reserved.
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aversion awareness and attraction investigating claims of hyperacusis in the Williams Syndrome phenotype
Journal of Child Psychology and Psychiatry, 2005Co-Authors: Daniel J Levitin, Kristen Cole, Alan J Lincoln, Ursula BellugiAbstract:Background: Williams Syndrome (WS), a neurodevelopmental disorder, is characterized by pervasive cognitive deficits alongside a relative sparing of auditory perception and cognition. A frequent characteristic of the phenotype is adverse reactions to, and/or fascination with, certain sounds. Previously published reports indicate that people with WS experience hyperacusis, yet careful examination reveals that the term ‘hyperacusis’ has been used indiscriminately in the literature to describe quite different auditory abnormalities. Method: In an effort to clarify and document the incidence of auditory abnormalities in and among people with WS we collected data from parents of people with WS (n ¼ 118) and comparison groups of people with Down Syndrome, autism, and normal controls. Results: Our findings revealed four phenomenologically separate auditory abnormalities, all of which were significantly more prevalent in WS than the three comparison groups. Among people with WS, we found relatively few reports of true hyperacusis (lowered threshold for soft sounds) or auditory fascinations/ fixations, whereas 80% reported fearfulness to idiosyncratically particular sounds, and 91% reported lowered uncomfortable loudness levels, or ‘odynacusis.’ Conclusions: Our results confirm anecdotal reports of an unusual auditory phenotype in WS, and provide an important foundation for understanding the nature of auditory experience and pathology in WS. We conclude by reviewing the ways in which the present findings extend and complement recent neuroanatomical and neurophysiological findings on auditory function in people with WS. Keywords: Hyperacusis, oxyacusis, allodynia, Williams Syndrome, Williams‐Beuren Syndrome, loudness thresholds, odynacusis.
