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Perceived Anxiety in Family Caregivers of Individuals with Autism Spectrum Disorder, Down Syndrome and Williams Syndrome during the Lockdown of the First COVID-19 Wave in Spain
Actas Esp Psiquiatr. 2023 Mar;51(2):56-64. Epub 2023 Mar 1.ABSTRACTThe lockdown during the first wave of COV- ID-19 in Spain has been related to higher levels of anxiety in the general population. However, the emotional impact on Spanish caregivers of individuals with neurodevelopmental disorders (NDD) has not been studied so far.PMID:37218100 (Source: Actas Espanolas de Psiquiatria)
Source: Actas Espanolas de Psiquiatria - May 23, 2023 Category: Psychiatry Authors: P Mart ínez-Castilla R Campos A C Samson J Van Herwegen D Dukes Source Type: research

Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation
We report a case of a nonsyndromic two-year-old boy with evolving manifestations of SVAS who developed sudden cardiac arrest and death during a sedated cardiac magnetic resonance imaging study. A strong family history of SVAS was present and targeted genetic testing identified anELN gene mutation in the boy ’s affected father and other paternal relatives. We review risk factors found in the literature for SCA in SVAS patients and utilize this case to raise awareness of the risk of cardiac events in these individuals even in the absence of WS or severe disease. This case also underscores the importanc e of genetic testing...
Source: Pediatric Cardiology - February 15, 2023 Category: Cardiology Source Type: research

Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation
We report a case of a nonsyndromic two-year-old boy with evolving manifestations of SVAS who developed sudden cardiac arrest and death during a sedated cardiac magnetic resonance imaging study. A strong family history of SVAS was present and targeted genetic testing identified anELN gene mutation in the boy ’s affected father and other paternal relatives. We review risk factors found in the literature for SCA in SVAS patients and utilize this case to raise awareness of the risk of cardiac events in these individuals even in the absence of WS or severe disease. This case also underscores the importanc e of genetic testing...
Source: Mammalian Genome - February 15, 2023 Category: Genetics & Stem Cells Source Type: research

Williams Syndrome: Supravalvar Aortic, Aortic Arch, Coronary and Pulmonary Arteries: Is Comprehensive Repair Advisable and Achievable?
Williams syndrome, and various elastin protein mediated arteriopathies, presents a clinical challenge to pediatric cardiovascular specialists. In the severest phenotypes, multilevel obstruction to the systemic and pulmonic arterial systems result in biventricular dysfunction which can be imminently life-threatening. As a longstanding, quaternary referral center for complex pulmonary arteriopathies and pediatric connective tissue disease, Stanford Medicine Children's Health has developed a sizeable experience managing these patients. (Source: Seminars in Thoracic and Cardiovascular Surgery: Pediatric Cardiac Surgery Annual)
Source: Seminars in Thoracic and Cardiovascular Surgery: Pediatric Cardiac Surgery Annual - February 2, 2023 Category: Cardiovascular & Thoracic Surgery Authors: Michael Ma, Elisabeth Martin, Claudia Algaze, Ronnie Thomas Collins, Doff McElhinney, Richard Mainwaring, Frank Hanley 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