Introduction: This study evaluated whether comorbidities such as genetic conditions, other congenital anomalies, infection, and other exposures impact the mortality rate and/or neurologic outcomes of patients with congenital ventriculomegaly.
Methods: This was a retrospective cohort study that assessed the mortality rate and developmental delay of 91 patients diagnosed with congenital ventriculomegaly followed at Cincinnati Children's Hospital Medical Center between Jan 1, 2010-Dec 31, 2020.
Results: Of the 91 patients included in the study, 20 (22.0%) had a genetic diagnosis. The mortality rate was higher for patients with a genetic diagnosis compared to those without a genetic diagnosis (p=0.022), as was the rate of developmental delay (p=0.026). The presence of comorbidities (confirmed genetic condition, confirmed maternal exposures or infections, and/or additional anomalies) were not associated with an increased risk of mortality nor developmental delay.
Conclusions: Patients diagnosed with congenital ventriculomegaly and a genetic condition have a significantly higher risk of early mortality and developmental delay compared to those without a genetic diagnosis. Therefore, diagnostic genetic testing should be considered after identification of congenital ventriculomegaly to facilitate counseling about prognosis and care management.
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http://dx.doi.org/10.1159/000542269 | DOI Listing |
Can Assoc Radiol J
January 2025
North York General Hospital, Toronto, ON, Canada.
The Canadian Association of Radiologists (CAR) Central Nervous System Expert Panel is made up of physicians from the disciplines of radiology, emergency medicine, neurosurgery, and neurology, a patient advisor, and an epidemiologist/guideline methodologist. After developing a list of 24 clinical/diagnostic scenarios, a rapid scoping review was undertaken to identify systematically produced referral guidelines that provide recommendations for one or more of these clinical/diagnostic scenarios. Recommendations from 55 guidelines and contextualization criteria in the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) for guidelines framework were used to develop 51 recommendation statements across the 24 scenarios.
View Article and Find Full Text PDFJ Child Neurol
February 2025
Department of Neurosurgery, University Hospital Ostrava, Ostrava, Czech Republic.
Introduction: The indication for endoscopic third ventriculostomy is often contested in children younger than 1 year. This study aims to establish the benefits of this modality in children with idiopathic congenital aqueductal stenosis.
Methods: Retrospective analysis was performed on patients <1 year old with idiopathic congenital aqueductal stenosis undergoing endoscopic third ventriculostomy between 2004 and 2020.
Am J Med Genet A
January 2025
Department of Pediatrics, University of Connecticut School of Medicine, Farmington, Connecticut, USA.
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel de novo heterozygous missense variant in PAK2, NM_002577.
View Article and Find Full Text PDFGenes (Basel)
January 2025
Perinatal Pathology Consulting, 490 Dogwood Valley Drive, Atlanta, GA 30342, USA.
Oropouche virus (OROV) is an orthobunyavirus endemic in the Brazilian Amazon that has caused numerous outbreaks of febrile disease since its discovery in 1955. During 2024, Oropouche fever spread from the endemic regions of Brazil into non-endemic areas and other Latin American and Caribbean countries, resulting in 13,014 confirmed infections. Similarly to other orthobunyaviruses, OROV can undergo genetic reassortment events with itself as well as other viruses.
View Article and Find Full Text PDFAnimals (Basel)
January 2025
Animal Pathology Laboratory (LAPATO), Institute of Veterinary Medicine (IMV), Federal University of Pará (UFPA), Castanhal 68745-000, PA, Brazil.
Manatees are semi-social animals, with the mother-calf relationship being considered long-lasting for the species. However, some events lead to the separation of this pair. Orphaned manatee calves can be adopted by other females of the same species.
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