Necropsy of an Atlantic bottlenose dolphin (Tursiops truncatus) neonate that stranded dead on Folly Beach, Charleston County, South Carolina, USA, on 17 November 2007, revealed multiple congenital heart malformations. Cardiac anomalies included a hypertrophic right ventricle, ventricular septal defect (VSD), aortic dilation, atrial septal defect (ASD) between a functionally common atrium and a left atrial remnant, subvalvular pulmonic stenosis, and a hypoplastic pulmonary artery and mitral valve. Few incidences of abnormal cardiac development in cetaceans have been published. The case study serves to document a novel congenital heart malformation not previously reported, to our knowledge, in free-ranging bottlenose dolphins.
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http://dx.doi.org/10.7589/0090-3558-45.3.839 | DOI Listing |
J Med Genet
January 2025
Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Entomology, Pennsylvania State University, University Park, PA 16802, USA.
Flaviviruses pose a major public health concern across the globe. Among them, Zika virus (ZIKV) is an emerging and reemerging arthropod-borne flavivirus that has become a major international public health problem following multiple large outbreaks over the past two decades. The majority of infections caused by ZIKV exhibit mild symptoms.
View Article and Find Full Text PDFJ Craniofac Surg
January 2025
Department of Plastic and Reconstructive Surgery, Shanghai 9th People's Hospital, School of Medicine, Shanghai Jiao Tong University.
Background: This paper presents the authors' team's research on a craniofacial surgical robot developed in China. Initiated in 2011 with government funding, the craniofacial surgical robot project was officially launched in Shanghai, developed jointly by the Ninth People's Hospital affiliated with Shanghai Jiao Tong University School of Medicine and the Shanghai Jiao Tong University medical-engineering team. Currently, based on multiple rounds of model surgeries, animal experiments, and clinical trials, our team is applying for approval as a Class III medical device from the National Medical Products Administration (NMPA).
View Article and Find Full Text PDFCureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFJ Family Med Prim Care
December 2024
Faculty of Medicine, King Abdulaziz University Hospital, Jeddah, Saudi Arabia.
The Kabuki syndrome (KS) is a rare congenital disease that has two different types, KS1 and KS2, with variant in epigenetic gene KMT2D and KDM6A, respectively. It is associated with multiple abnormalities such as (developmental delay, atypical facial features, cardiac anomalies, minor skeleton anomalies, genitourinary anomalies, and mild to moderate intellectual disability). This syndrome can lead to neonatal hypoglycemia that results from hyperinsulinemia and electrolyte abnormalities.
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