Williams-Beuren syndrome with pseudoaneurysm of aortic arch and infective vegetations for modified broms procedure: anesthetic concerns & amp; Echocardiographic illustrations
Ann Card Anaesth. 2023 Jan-Mar;26(1):94-96. doi: 10.4103/aca.aca_122_21.ABSTRACTWilliams-Beuren syndrome is a rare genetic malformation with predilection for supravalvular aortic stenosis. Apart from cardiovascular malformation, hypocalcemia, developmental delay, and elfin facies, challenging airway make perioperative management more eventful. Association of infective endocarditis within the aortic arch and pseudoaneurysm formation is infrequent. We, hereby report a case of pseudoaneurysm formation and infective vegetation within the aortic arch in a patient with Williams syndrome and the role of transthoracic echocardiogr...
Source: Annals of Cardiac Anaesthesia - February 1, 2023 Category: Anesthesiology Authors: Devishree Das Neeti Makhija Source Type: research
Williams-Beuren syndrome with pseudoaneurysm of aortic arch and infective vegetations for modified broms procedure: anesthetic concerns & amp; Echocardiographic illustrations
Ann Card Anaesth. 2023 Jan-Mar;26(1):94-96. doi: 10.4103/aca.aca_122_21.ABSTRACTWilliams-Beuren syndrome is a rare genetic malformation with predilection for supravalvular aortic stenosis. Apart from cardiovascular malformation, hypocalcemia, developmental delay, and elfin facies, challenging airway make perioperative management more eventful. Association of infective endocarditis within the aortic arch and pseudoaneurysm formation is infrequent. We, hereby report a case of pseudoaneurysm formation and infective vegetation within the aortic arch in a patient with Williams syndrome and the role of transthoracic echocardiogr...
Source: Annals of Cardiac Anaesthesia - February 1, 2023 Category: Anesthesiology Authors: Devishree Das Neeti Makhija Source Type: research
Williams-Beuren syndrome with pseudoaneurysm of aortic arch and infective vegetations for modified broms procedure: anesthetic concerns & amp; Echocardiographic illustrations
Ann Card Anaesth. 2023 Jan-Mar;26(1):94-96. doi: 10.4103/aca.aca_122_21.ABSTRACTWilliams-Beuren syndrome is a rare genetic malformation with predilection for supravalvular aortic stenosis. Apart from cardiovascular malformation, hypocalcemia, developmental delay, and elfin facies, challenging airway make perioperative management more eventful. Association of infective endocarditis within the aortic arch and pseudoaneurysm formation is infrequent. We, hereby report a case of pseudoaneurysm formation and infective vegetation within the aortic arch in a patient with Williams syndrome and the role of transthoracic echocardiogr...
Source: Annals of Cardiac Anaesthesia - February 1, 2023 Category: Anesthesiology Authors: Devishree Das Neeti Makhija Source Type: research
Williams-Beuren syndrome with pseudoaneurysm of aortic arch and infective vegetations for modified broms procedure: anesthetic concerns & amp; Echocardiographic illustrations
Ann Card Anaesth. 2023 Jan-Mar;26(1):94-96. doi: 10.4103/aca.aca_122_21.ABSTRACTWilliams-Beuren syndrome is a rare genetic malformation with predilection for supravalvular aortic stenosis. Apart from cardiovascular malformation, hypocalcemia, developmental delay, and elfin facies, challenging airway make perioperative management more eventful. Association of infective endocarditis within the aortic arch and pseudoaneurysm formation is infrequent. We, hereby report a case of pseudoaneurysm formation and infective vegetation within the aortic arch in a patient with Williams syndrome and the role of transthoracic echocardiogr...
Source: Annals of Cardiac Anaesthesia - February 1, 2023 Category: Anesthesiology Authors: Devishree Das Neeti Makhija Source Type: research
Williams-Beuren syndrome with pseudoaneurysm of aortic arch and infective vegetations for modified broms procedure: anesthetic concerns & amp; Echocardiographic illustrations
Ann Card Anaesth. 2023 Jan-Mar;26(1):94-96. doi: 10.4103/aca.aca_122_21.ABSTRACTWilliams-Beuren syndrome is a rare genetic malformation with predilection for supravalvular aortic stenosis. Apart from cardiovascular malformation, hypocalcemia, developmental delay, and elfin facies, challenging airway make perioperative management more eventful. Association of infective endocarditis within the aortic arch and pseudoaneurysm formation is infrequent. We, hereby report a case of pseudoaneurysm formation and infective vegetation within the aortic arch in a patient with Williams syndrome and the role of transthoracic echocardiogr...
Source: Annals of Cardiac Anaesthesia - February 1, 2023 Category: Anesthesiology Authors: Devishree Das Neeti Makhija Source Type: research
Williams-Beuren syndrome with pseudoaneurysm of aortic arch and infective vegetations for modified broms procedure: anesthetic concerns & amp; Echocardiographic illustrations
Ann Card Anaesth. 2023 Jan-Mar;26(1):94-96. doi: 10.4103/aca.aca_122_21.ABSTRACTWilliams-Beuren syndrome is a rare genetic malformation with predilection for supravalvular aortic stenosis. Apart from cardiovascular malformation, hypocalcemia, developmental delay, and elfin facies, challenging airway make perioperative management more eventful. Association of infective endocarditis within the aortic arch and pseudoaneurysm formation is infrequent. We, hereby report a case of pseudoaneurysm formation and infective vegetation within the aortic arch in a patient with Williams syndrome and the role of transthoracic echocardiogr...
Source: Annals of Cardiac Anaesthesia - February 1, 2023 Category: Anesthesiology Authors: Devishree Das Neeti Makhija Source Type: research
GSE221249 In individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development
In conclusion, our study illuminates the brain methylome landscape of individuals wit h WS and sheds light on how these aberrations might be involved in social behavior and physiological abnormalities. By extension, these results may lead to better diagnostics and more refined therapeutic targets for WS. (Source: GEO: Gene Expression Omnibus)
Source: GEO: Gene Expression Omnibus - January 1, 2023 Category: Genetics & Stem Cells Tags: Methylation profiling by high throughput sequencing Homo sapiens Source Type: research
In individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development
Molecular Psychiatry, Published online: 28 December 2022; doi:10.1038/s41380-022-01921-zIn individuals with Williams syndrome, dysregulation of methylation in non-coding regions of neuronal and oligodendrocyte DNA is associated with pathology and cortical development (Source: Molecular Psychiatry)
Source: Molecular Psychiatry - December 28, 2022 Category: Psychiatry Authors: Sari Schokoroy Trangle Tali Rosenberg Hadar Parnas Gilad Levy Ela Bar Asaf Marco Boaz Barak Source Type: research
Neuropsychological Genotype –Phenotype in Patients with Williams Syndrome with Atypical Deletions: A Systematic Review
The objective of this systematic review was to analyze and synthesize the variability of the cognitive and behavioral profile of WS with atypical deletion and its probable relationship with the affected genes. The medical subject headings searched were"Williams syndrome,""genotype,""phenotype,""cognitive profile," and “atypical deletion.” The studies included were in English or Spanish, with children and adults, and published between January 2000 and October 2022. Twenty-three studies are reported. The characteristics of the participants, the genes involved, the neuropsychologica...
Source: Neuropsychology Review - December 15, 2022 Category: Neuroscience Source Type: research
Correction to: Comparison of the social responsiveness scale-2 among individuals with Autism Spectrum Disorder and Williams Syndrome in Japan
J Autism Dev Disord. 2022 Dec 9. doi: 10.1007/s10803-022-05810-w. Online ahead of print.NO ABSTRACTPMID:36484967 | DOI:10.1007/s10803-022-05810-w (Source: Journal of Autism and Developmental Disorders)
Source: Journal of Autism and Developmental Disorders - December 9, 2022 Category: Psychiatry Authors: Masahiro Hirai Kosuke Asada Takeo Kato Takahiro Ikeda Yoko Hakuno Ayaka Ikeda Kanae Matsushima Tomonari Awaya Shin Okazaki Toshihiro Kato Yasuko Funabiki Toshiya Murai Toshio Heike Masatoshi Hagiwara Takanori Yamagata Kiyotaka Tomiwa Ryo Kimura Source Type: research
Correction to: Comparison of the social responsiveness scale-2 among individuals with Autism Spectrum Disorder and Williams Syndrome in Japan
J Autism Dev Disord. 2022 Dec 9. doi: 10.1007/s10803-022-05810-w. Online ahead of print.NO ABSTRACTPMID:36484967 | DOI:10.1007/s10803-022-05810-w (Source: Journal of Autism and Developmental Disorders)
Source: Journal of Autism and Developmental Disorders - December 9, 2022 Category: Psychiatry Authors: Masahiro Hirai Kosuke Asada Takeo Kato Takahiro Ikeda Yoko Hakuno Ayaka Ikeda Kanae Matsushima Tomonari Awaya Shin Okazaki Toshihiro Kato Yasuko Funabiki Toshiya Murai Toshio Heike Masatoshi Hagiwara Takanori Yamagata Kiyotaka Tomiwa Ryo Kimura Source Type: research
Correction to: Comparison of the social responsiveness scale-2 among individuals with Autism Spectrum Disorder and Williams Syndrome in Japan
J Autism Dev Disord. 2022 Dec 9. doi: 10.1007/s10803-022-05810-w. Online ahead of print.NO ABSTRACTPMID:36484967 | DOI:10.1007/s10803-022-05810-w (Source: Journal of Autism and Developmental Disorders)
Source: Journal of Autism and Developmental Disorders - December 9, 2022 Category: Psychiatry Authors: Masahiro Hirai Kosuke Asada Takeo Kato Takahiro Ikeda Yoko Hakuno Ayaka Ikeda Kanae Matsushima Tomonari Awaya Shin Okazaki Toshihiro Kato Yasuko Funabiki Toshiya Murai Toshio Heike Masatoshi Hagiwara Takanori Yamagata Kiyotaka Tomiwa Ryo Kimura Source Type: research
Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases
Eye, Published online: 28 November 2022; doi:10.1038/s41433-022-02328-4Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases (Source: Eye)
Source: Eye - November 28, 2022 Category: Opthalmology Authors: Tsai-Chu Yeh Hui-Chen Cheng Hsing-Yuan Li Sheng Chu Chi Hsin-Yu Yang Jenn-Yah Yu Dau-Ming Niu An-Guor Wang Source Type: research
An exploratory study on emotion regulation strategy use in individuals with Williams syndrome, autism spectrum disorder and intellectual disability
ConclusionThis study sheds light on an underexplored area of emotion regulation strategy use in different neurodevelopmental disorders. It also paves the way to further examine emotion regulation in more rigorous ways to better understand emotion regulation in different neurodevelopmental disorders as well as the impact on outcome measures such as anxiety. This exploratory study may help to develop and validate adequate measures to study a broad array of ER strategies used by individuals with neurodevelopmental disorders. (Source: Frontiers in Psychiatry)
Source: Frontiers in Psychiatry - November 23, 2022 Category: Psychiatry Source Type: research
Friendships in Children with Williams Syndrome: Parent and Child Perspectives
J Autism Dev Disord. 2022 Nov 18. doi: 10.1007/s10803-022-05807-5. Online ahead of print.ABSTRACTAlthough children with Williams syndrome (WS) are strongly socially motivated, many have friendship difficulties. The parents of 21 children with WS and 20 of the children themselves participated in a semi-structured interview about the children's friendships. Parents reported that their child had difficulties sustaining friendships and low levels of interaction with peers. Barriers to friendships included difficulties with play and self-regulating behaviour. However, there was within-group variability, with a small number of c...
Source: Journal of Autism and Developmental Disorders - November 18, 2022 Category: Psychiatry Authors: Amanda E Gillooly Deborah M Riby Kevin Durkin Sin éad M Rhodes Source Type: research
