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A recent study from the Division of Cardiology at a university provides new data on Beuren syndrome, a congenital multisystem disorder that affects the cardiovascular, central nervous, and musculoskeletal systems. The study highlights that cardiovascular abnormalities, such as vascular stenoses, occur in approximately 80% of people with Beuren syndrome and are the main cause of early morbidity and mortality. The research also emphasizes the higher risk of sudden cardiac death in individuals with Beuren syndrome and the limited experience that most physicians, including cardiologists, have in caring for these patients. The study concludes by presenting clinical management guidelines based on expert consensus to address these challenges. [Extracted from the article]

A recent study conducted by researchers at Southern Medical University in Guangzhou, China, has developed facial recognition models to identify three common genetic syndromes associated with pulmonary stenosis in children: Williams-Beuren syndrome, Noonan syndrome, and Alagille syndrome. The models were trained using a total of 3,297 facial photos from children with these syndromes and without genetic syndromes. The best accuracy of 84.8% was achieved by a model using a pretrained foundation model and the CosFace loss function. The study suggests that facial recognition-based models have the potential to improve the identification of these genetic syndromes. [Extracted from the article]

A recent study conducted at Guangdong Provincial People's Hospital in China aimed to develop and optimize facial recognition models for the diagnosis of Williams-Beuren syndrome (WBS), a rare genetic disorder. The researchers used a total of 954 images from patients with WBS, patients with other genetic disorders, and healthy children to train and evaluate six different models of facial recognition. The model based on VGG-19BN achieved the best performance, with an accuracy of 95.10% on the external test set. The study concluded that facial recognition technology can accurately diagnose patients with WBS and that the VGG-19BN model can play a crucial role in its clinical diagnosis. [Extracted from the article]

A recent study conducted at Texas A&M University examined the relationship between Beuren syndrome (WBS) and sudden death risk. WBS is a rare genetic condition characterized by distinct facial features, intellectual disability, and aortic stenosis. The researchers found that individuals with WBS have increased heart rate fragmentation (HRF), which is associated with adverse cardiovascular events and death. The study also introduced a new metric called Significant Acute Rate Drop (SARD) that may help detect vagal activity. These findings suggest that HRF and SARD can improve the identification of individuals at high risk for sudden cardiac death in both the WBS population and broader populations. [Extracted from the article]

A recent study conducted by Emory University in Atlanta, Georgia, examined the long-term outcomes of surgical intervention for congenital supravalvar aortic stenosis (SVAS) in children, particularly in relation to Beuren Syndrome. SVAS is a rare cardiovascular condition that can coexist with other conditions such as Williams-Beuren syndrome, coronary artery involvement, aortic coarctation, and pulmonary artery stenosis. The study found that SVAS repair had low perioperative mortality, but long-term survival rates were less well understood. The research concluded that further studies are needed to investigate the long-term outcomes of evolving surgical techniques. [Extracted from the article]

A recent study conducted at West China Second University Hospital in Sichuan, China, has reported a rare case of T-cell acute lymphoblastic leukemia in a male child with Williams-Beuren syndrome (WBS). WBS is a genetic disorder caused by the deletion of genes on chromosome 7q11.23, and it is not typically associated with cancer development. However, this case suggests a potential link between WBS and leukemia. Further research is needed to understand the relationship between WBS and malignancy. The study findings were published in the journal Medicine. [Extracted from the article]

A recent study conducted by Emory University examined the long-term survival outcomes of children with Williams-Beuren syndrome (WBS) after interventions for congenital heart disease (CHD). The study utilized data from the Pediatric Cardiac Care Consortium (PCCC) and the National Death Index. The results showed that the overall 30-year survival rate for children with WBS who underwent cardiac surgery was 90%. Survival rates varied depending on the type of heart lesion, with isolated left heart obstructive lesions having the highest survival rate (96.1%) and combined disease having the lowest (83.4%). This research provides valuable insights into the long-term outcomes of cardiac interventions for children with WBS. [Extracted from the article]

A recent report from the Lung and Blood Institute National Institutes of Health discusses the findings on Beuren syndrome, specifically focusing on supravalvar aortic stenosis (SVAS), a characteristic feature of Williams-Beuren syndrome (WBS). The severity of SVAS varies among individuals with WBS, with some requiring surgical intervention and others having no appreciable SVAS. The study aimed to identify genetic modifiers that contribute to this variability by performing genome sequencing on 473 individuals with WBS. The researchers found that SVAS severity in WBS is associated with increased frequency of common and rarer variants in matrisome and immune pathways. These findings suggest that SVAS, like other aortopathies, may be influenced by the balance of synthesis and degradation of matrisome proteins. The study highlights the importance of leveraging multiomic data and larger genome-wide association studies to accelerate modifier discovery for rare aortopathies like SVAS. [Extracted from the article]

Diseases and Conditions, Health and Medicine, Williams-Beuren Syndrome, Beuren Syndrome Keywords: Beuren Syndrome; Diseases and Conditions; Health and Medicine; Williams-Beuren Syndrome EN Beuren Syndrome Diseases and Conditions Health and Medicine Williams-Beuren Syndrome 1359 1359 1 09/04/23 20230908 NES 230908 2023 SEP 8 (NewsRx) -- By a News Reporter-Staff News Editor at Genomics & Genetics Weekly -- Research findings on Beuren syndrome are discussed in a new report. [Extracted from the article]

Houston, State:Texas, United States, North and Central America, Beuren Syndrome, Diseases and Conditions, Health and Medicine, Williams-Beuren Syndrome Keywords: Houston; State:Texas; United States; North and Central America; Beuren Syndrome; Diseases and Conditions; Health and Medicine; Williams-Beuren Syndrome EN Houston State:Texas United States North and Central America Beuren Syndrome Diseases and Conditions Health and Medicine Williams-Beuren Syndrome 5787 5787 1 07/03/23 20230707 NES 230707 2023 JUL 7 (NewsRx) -- By a News Reporter-Staff News Editor at Health & Medicine Week -- A new study on Diseases and Conditions - Beuren Syndrome is now available. [Extracted from the article]

Keywords: Beuren Syndrome; Cardiology; Cardiovascular; Cardiovascular Research; Diagnostics and Screening; Diseases and Conditions; Genetics; Health and Medicine; Williams-Beuren Syndrome EN Beuren Syndrome Cardiology Cardiovascular Cardiovascular Research Diagnostics and Screening Diseases and Conditions Genetics Health and Medicine Williams-Beuren Syndrome 917 917 1 04/03/23 20230407 NES 230407 2023 APR 3 (NewsRx) -- By a News Reporter-Staff News Editor at Medical Imaging Week -- A new study on Beuren syndrome is now available. Beuren Syndrome, Cardiology, Cardiovascular, Cardiovascular Research, Diagnostics and Screening, Diseases and Conditions, Genetics, Health and Medicine, Williams-Beuren Syndrome. [Extracted from the article]

For more information on this research see: The Combined Treatment of Curcumin with Verapamil Ameliorates the Cardiovascular Pathology in a Williams-Beuren Syndrome Mouse Model. Keywords: Alkanes; Antiarrhythmic Agents; Aromatic Hydrocarbons; Beuren Syndrome; Calcium Channel Blocking Agents; Cardiology; Cardiovascular; Cardiovascular Agents; Cardiovascular Research; Catechols; Curcumin; Diarylheptanoids; Diseases and Conditions; Drugs and Therapies; Group IV Antiarrhythmics; Health and Medicine; Heart; Heart Research; Hydrocarbons; Myocardium; Organic Chemicals; Pathology; Pharmaceuticals; Phenethylamines; Vasodilator Agents; Verapamil; Verapamil Therapy; Williams-Beuren Syndrome EN Alkanes Antiarrhythmic Agents Aromatic Hydrocarbons Beuren Syndrome Calcium Channel Blocking Agents Cardiology Cardiovascular Cardiovascular Agents Cardiovascular Research Catechols Curcumin Diarylheptanoids Diseases and Conditions Drugs and Therapies Group IV Antiarrhythmics Health and Medicine Heart Heart Research Hydrocarbons Myocardium Organic Chemicals Pathology Pharmaceuticals Phenethylamines Vasodilator Agents Verapamil Verapamil Therapy Williams-Beuren Syndrome 781 781 1 03/23/23 20230317 NES 230317 2023 MAR 13 (NewsRx) -- By a News Reporter-Staff News Editor at Drug Week -- Investigators discuss new findings in Beuren syndrome. [Extracted from the article]