Proportions of cases of cerebral palsy (CP) with congenital anomalies recorded in Australian CP registers range from 15% to 40%. The anomalies seen in CP are extremely variable. We have identified that CP registers often do not have quality data on congenital anomalies, necessitating linkage with congenital anomaly registers. However, a lack of unified processes and definitions in congenital anomaly registers and data collections means that linkages are complex, need to be carefully planned, and limitations acknowledged. Historically in CP research, congenital anomalies have been classified by International Classification of Disease codes, then combined into brain and other major and minor anomalies. Systems have been developed to classify congenital anomalies into aetiologically related groups, but such a classification has yet to be trialled in CP. It is anticipated that primary prevention of a small proportion of cases of CP is possible through the primary prevention of congenital anomalies, especially those due to teratogens. Owing to the anticipated low prevalence of each subgroup, global collaboration will be required to further these lines of enquiry.
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http://dx.doi.org/10.1111/dmcn.13015 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Shenzhen Key Laboratory of Biomolecular Assembling and Regulation, Department of Neuroscience, School of Life Sciences, Southern University of Science and Technology, Shenzhen 518055, China.
Ankyrin Repeat Domain-containing Protein 11 () is a causative gene for KBG syndrome, a significant risk factor for Cornelia de Lange syndrome (CdLS), and a highly confident autism spectrum disorder gene. Mutations of lead to developmental abnormalities in multiple organs/tissues including the brain, craniofacial and skeletal bones, and tooth structures with unknown mechanism(s). Here, we find that ANKRD11, via a short peptide fragment in its N-terminal region, binds to the cohesin complex with a high affinity, implicating why mutation can cause CdLS.
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School of Agricultural Sciences, Innovation and Business, University of Passo Fundo, Passo Fundo, Brazil.
Choledochal cyst or biliary tract cyst is a pathological condition characterized by abnormal dilation of the hepatobiliary system. In veterinary medicine, case descriptions and histological characterizations of this biliary malformation are scarce, requiring reliance on data from human medicine. A presumptive diagnosis typically involves imaging studies, with histopathological examination required for confirmation.
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Department of Medical Genetics, Faculty of Medicine, Medical University of Varna, 9002 Varna, Bulgaria.
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February 2025
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Prader-Willi syndrome is a rare and complex genetic disorder with multiple physical and behavioral characteristics, affecting endocrine, metabolic, and neurologic systems and producing a plethora of medical complications. Early identification and diagnosis are paramount to providing timely and appropriate interventions to improve patient outcomes. Treatment should focus on neonatal feeding and growth, followed by hormonal therapy for hypothalamic dysfunction, and should then be directed at the prevention and treatment of obesity and obesity-related complications.
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