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Williams beuren syndrome review

Maria Laura Duque Lasio, Beth A Kozel
Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa)...
February 28, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
Azubel Ramírez-Velazco, Ma Guadalupe Domínguez-Quezada
The Williams-Beuren (SWB; OMIM 194050) syndrome is an autosomal dominant multisystem disorder that occurs in ~ 1 in 20,000 live births and results from a 7q11.23 deletion spanning ~ 28 genes. This deletion is caused by a nonallelic homologous recombination (NAHR) between low copy repeats present therein. The SWB phenotype is characterized by neonatal hypercalcemia, mental disability, distinctive personality and cognitive profile, short stature, dysmorphic facies, connective tissue disorders and supravalvular aortic stenosis...
September 2017: Revista Médica del Instituto Mexicano del Seguro Social
Katrin Linda, Carol Fiuza, Nael Nadif Kasri
A major challenge in clinical genetics and medicine is represented by genetically and phenotypically highly diverse neurodevelopmental disorders, like for example intellectual disability and autism. Intellectual disability is characterized by substantial limitations in cognitive function and adaptive behaviour. At the cellular level, this is reflected by deficits in synaptic structure and plasticity and therefore has been coined as a synaptic disorder or "synaptopathy". In this review, we summarize the findings from recent studies in which iPSCs have been used to model specific neurodevelopmental syndromes, including Fragile X syndrome, Rett syndrome, Williams-Beuren syndrome and Phelan-McDermid syndrome...
November 8, 2017: Progress in Neuro-psychopharmacology & Biological Psychiatry
Andrea M Chiariello, Andrea Esposito, Carlo Annunziatella, Simona Bianco, Luca Fiorillo, Antonella Prisco, Mario Nicodemi
In the last decade, the developments of novel technologies, such as Hi-C or GAM methods, allowed to discover that chromosomes in the nucleus of mammalian cells have a complex spatial organization, encompassing the functional contacts between genes and regulators. In this work, we review recent progresses in chromosome modeling based on polymer physics to understand chromatin structure and folding mechanisms. As an example, we derive in mouse embryonic stem cells the full 3D structure of the Bmp7 locus, a genomic region that plays a key role in osteoblastic differentiation...
2017: Frontiers in Neuroscience
Antoni Borrell, Maribel Grande, Montse Pauta, Laia Rodriguez-Revenga, Francesc Figueras
OBJECTIVE: To perform a systematic review of the literature and a meta-analysis to estimate the incremental yield of chromosomal microarray analysis (CMA) over karyotyping in fetal growth restriction (FGR). METHODS: This was a systematic review conducted in accordance with the PRISMA criteria. All articles identified in PubMed, Ovid Medline, and ISI Web of Knowledge (Web of Science) from January 2009 to November 2016 describing pathogenic copy number variants (CNVs) in fetuses with growth restriction were included...
September 9, 2017: Fetal Diagnosis and Therapy
Elham Abbas, Devin M Cox, Teri Smith, Merlin G Butler
We report a 14-year-old adolescent girl with selective mutism (SM) and a 7q11.23 microduplication detected by chromosomal microarray (CMA) analysis and reviewed the literature from 18 published clinical reports. Our patient had specific phobias, SM, extreme anxiety, obesity, cutis marmorata, and a round appearing face with a short neck and over folded ears. We reviewed the published clinical, cognitive, behavioral, and cytogenetic findings grouped by speech and language delay, growth and development, craniofacial, clinical, and behavior and cognitive features due to the 7q11...
September 2016: Journal of Pediatric Genetics
Bernt Popp, Regina Trollmann, Christian Büttner, Almuth Caliebe, Christian T Thiel, Ulrike Hüffmeier, André Reis, Christiane Zweier
Williams-Beuren syndrome (WBS) is a relatively common, clinically recognizable microdeletion syndrome. In most cases the typical heterozygous deletion of 1.5 Mb on chromosome 7q11.23 spanning about 26 genes can be identified. Also some larger or smaller atypical deletions have been reported and associated with additional or atypical phenotypic aspects. We report on an individual with typical WBS due to the common deletion and with refractory infantile spasms. Using trio-exome sequencing, we identified a de novo truncating variant c...
October 2016: European Journal of Medical Genetics
Gregory J Latham, Faith J Ross, Michael J Eisses, Michael J Richards, Jeremy M Geiduschek, Denise C Joffe
BACKGROUND: Children with elastin arteriopathy (EA), the majority of whom have Williams-Beuren syndrome, are at high risk for sudden death. Case reports suggest that the risk of perioperative cardiac arrest and death is high, but none have reported the frequency or risk factors for morbidity and mortality in an entire cohort of children with EA undergoing anesthesia. AIM: The aim of this study was to present one institution's rate of morbidity and mortality in all children with EA undergoing anesthesia and to examine patient characteristics that pose the greatest risk...
September 2016: Paediatric Anaesthesia
Yoon-Myung Kim, Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo
PURPOSE: Williams-Beuren syndrome (WBS) is caused by a hemizygous microdeletion of chromosome 7q11.23 and is characterized by global cognitive impairment, dysmorphic facial features, and supravalvular aortic stenosis. Endocrine dysfunctions have been reported in patients with WBS. This study was performed to investigate the frequency, clinical features, and outcomes of endocrine dysfunctions in children with WBS. METHODS: One hundred two patients were included. The diagnosis was confirmed by chromosome analysis and fluorescent in situ hybridization...
March 2016: Annals of Pediatric Endocrinology & Metabolism
Celeste Leung, Zhengping Jia
Over the past three decades, genetic manipulations in mice have been used in neuroscience as a major approach to investigate the in vivo function of genes and their alterations. In particular, gene targeting techniques using embryonic stem cells have revolutionized the field of mammalian genetics and have been at the forefront in the generation of numerous mouse models of human brain disorders. In this review, we will first examine childhood developmental disorders such as autism, intellectual disability, Fragile X syndrome, and Williams-Beuren syndrome...
2016: Frontiers in Genetics
L E Copes, B R Pober, C A Terilli
Williams syndrome (WS), also referred to as Williams-Beuren syndrome (WBS), is a relatively rare genetic disorder affecting ∼1/10,000 persons. Since the disorder is caused by a micro-deletion of ∼1.5 Mb, it is not surprising that the manifestations of WS are extremely broad, involving most body systems. In this paper, we primarily focus on the musculoskeletal aspects of WS as these findings have not been the subject of a comprehensive review. We review the MSK features commonly seen in individuals with WS, along with related sensory and neurological issues interacting with and compounding underlying MSK abnormalities...
July 2016: Clinical Anatomy
Andrew J Matisoff, Laura Olivieri, Jamie M Schwartz, Nina Deutsch
Since the first description in 1961, several case reports have documented an increased incidence of anesthesia-related cardiac arrest in patients with Williams-Beuren syndrome, commonly known as Williams syndrome (WS). Widespread arteriopathy secondary to an elastin gene defect results in various cardiac defects, including supravalvar aortic stenosis (SVAS) and coronary artery anomalies, which can increase the risk of myocardial ischemia. Even though patients with WS are known to have increased risk of adverse events during anesthesia and sedation, they often undergo several procedures that require anesthesia during their lifetimes, and cases of perianesthetic cardiac arrest continue to be reported...
December 2015: Paediatric Anaesthesia
Adriano R Tonelli, Mostafa Ahmed, Fadi Hamed, Lourdes R Prieto
Peripheral pulmonary artery stenosis (PPAS) is an underrecognized condition in the adult population. PPAS can lead to pulmonary hypertension but is likely misdiagnosed as either idiopathic pulmonary arterial hypertension or chronic thromboembolic pulmonary hypertension. We retrospectively identified adult patients with PPAS either in its isolated form or related to other congenital defects from January 1998 to September 2012. We reviewed the patients' clinical data by using our hospital electronic medical records and/or their paper charts...
March 2015: Pulmonary Circulation
Cindy Gomes-Ferreira, Anne Schneider, Paul Philippe, Isabelle Lacreuse, Francois Becmeur
AIM: We present an operating technique inspired from the Orr-Loygue mesh rectopexy adapted for laparoscopy, and detail the technical steps that differ from laparoscopic posterior suture rectopexy more commonly described in the paediatric literature. METHOD: We present a retrospective study of all children who underwent a modified Orr-Loygue procedure for recurrent complete rectal prolapse from 1999 to 2012 after failure of conservative treatment. Pathological conditions, technical details of the procedure (excision of the Douglas pouch, use of a prerectal non-absorbable mesh to suspend the rectum to the presacral fascia and promontory avoiding any tension on the rectal wall) and postoperative results were reviewed...
February 2015: Journal of Pediatric Surgery
Livia Marcato, Licia Turolla, Eva Pompilii, Celine Dupont, Nicolas Gruchy, Simona De Toffol, Gabriella Bracalente, Severine Bacrot, Enzo Troilo, Anne C Tabet, Sabrina Rossi, Anne L Delezoïde, Demetrio Baldo, Nathalie Leporrier, Federico Maggi, Arnaud Molin, Gianluigi Pilu, Giuseppe Simoni, Francois Vialard, Francesca R Grati
Copy losses/gains of the Williams-Beuren syndrome (WBS) region cause neurodevelopmental disorders with variable expressivity. The WBS prenatal diagnosis cannot be easily performed by ultrasound because only few phenotypic features can be assessed. Three WBS and the first reciprocal duplication prenatal cases are described with a review of the literature.
April 2014: Clinical Case Reports
C Binelli, S Subirà, A Batalla, A Muñiz, G Sugranyés, J A Crippa, M Farré, L Pérez-Jurado, R Martín-Santos
BACKGROUND: Social Anxiety Disorder (SAD) and Williams-Beuren Syndrome (WS) are two conditions which seem to be at opposite ends in the continuum of social fear but show compromised abilities in some overlapping areas, including some social interactions, gaze contact and processing of facial emotional cues. The increase in the number of neuroimaging studies has greatly expanded our knowledge of the neural bases of facial emotion processing in both conditions. However, to date, SAD and WS have not been compared...
November 2014: Neuropsychologia
Karuna M Das, Tarek S Momenah, Sven G Larsson, Shehla Jadoon, Abdullah S Aldosary, Edward Y Lee
Williams-Beuren syndrome (WBS) affects young infants and children. The underlying etiopathogenesis of this rare disease is due to the mutation of the elastin gene that is responsible for the elasticity of the arterial wall. As a result of inadequate elastin production, the major systemic arteries become abnormally rigid and can be manifested by an impediment to the blood flow. The most common cardiovascular abnormalities encountered in WBS are supravalvular aortic stenosis, pulmonary arterial stenosis, and mitral valve prolapse...
December 2014: Pediatric Cardiology
Margarita G Todorova, Matthias C Grieshaber, Rafael J A Cámara, Peter Miny, Anja M Palmowski-Wolfe
BACKGROUND: Williams-Beuren syndrome is characterized by mild mental retardation, specific neurocognitive profile, hypercalcemia during infancy, distinctive facial features and cardiovascular diseases. We report on complete ophthalmologic, sonographic and genetic evaluation of a girl with a clinical phenotype of Williams-Beuren syndrome, associated with unilateral anterior segment dysgenesis and bilateral cleft of the soft and hard palate. These phenotypic features have not been linked to the haploinsufficiency of genes involved in the microdeletion...
2014: BMC Ophthalmology
Farhad Bakhtiary, Mohammed Amer, Christian D Etz, Ingo Dähnert, Friedrich Wilhelm Mohr, Wilfried Bellinghausen, Martin Kostelka
OBJECTIVES: Congenital supravalvular aortic stenosis (SVAS) is a rare arteriopathy associated with the Williams-Beuren syndrome (WBS) and other elastin gene deletions. Our objective was to review the mid-term outcomes of SVAS repair with extended aortoplasty. METHODS: Congenital SVAS repairs from 2001 to 2010 were retrospectively reviewed. The follow-up records, reintervention and reoperation data and most recent echocardiograms were obtained. RESULTS: From 2001 to 2010, 21 patients (15 males) underwent surgical repair of SVAS by extended aortoplasty with autologous pretreated pericardium, which is a modification of the Doty technique...
October 2013: Interactive Cardiovascular and Thoracic Surgery
Guido E Pieles, Victor Ofoe, Gareth J Morgan
Williams-Beuren syndrome (WBS) is a multisystem genetic disorder comprising of craniofacial, developmental, and cardiac malformations. The most common cardiac defects found are supravalvar aortic stenosis and peripheral pulmonary stenosis. However, WBS should be regarded as a general arteriopathy consisting of stenoses of medium- and large-sized arteries including the coronary arteries. Cardiac manifestations are often the initial reason for referral and careful cardiovascular assessment is important as coronary artery involvement confers a significant anesthetic risk and may be associated with ischemia and resultant ventricular dysfunction...
May 2014: Congenital Heart Disease
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