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Role of copy number variation analysis in prenatally diagnosed Blake's pouch cyst.
BMC Pregnancy Childbirth
December 2024
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Maternal and Child Health Care Hospital, Beijing, 100026, China.
Background: Blake's pouch cyst (BPC) is a midline cystic anomaly of the posterior fossa. BPC has been shown to have a risk of aneuploidy prenatally. Copy number variation (CNV) and/or genetic syndromes have been reported in a few prenatal/postnatal cases with BPC.
View Article and Find Full Text PDFPosterior Fossa Arachnoid cysts (PFACs) in pediatric patients: a single-center retrospective study and proposal of a treatment flow-chart.
Acta Neurochir (Wien)
October 2024
Neurosurgery Unit, Giannina Gaslini Children's Hospital, Genoa, Italy.
Article Synopsis
- This study examines how the different presentations of posterior fossa arachnoid cysts (PFACs) affect surgical decisions and patient outcomes in children.
- A "wait and see" approach is recommended for asymptomatic patients, leading to better outcomes at one year; surgery types like fenestration or shunting show no significant difference in outcomes, but cyst location does matter.
- Factors such as patient age, presence of hydrocephalus, and cyst location are crucial in determining the best treatment to reduce complications and improve results after surgery.
Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Eur J Med Res
July 2024
Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, No. 251 Yaojiayuan Road, Chaoyang District, Beijing, 100026, China.
Background: Posterior fossa malformation (PFM) is a relatively uncommon prenatal brain malformation. Genetic diagnostic approaches, including chromosome karyotyping, copy number variant (CNV) testing, and whole-exome sequencing (WES), have been applied in several cases of fetal structural malformations. However, the clinical value of appropriate genetic diagnostic approaches for different types of PFMs has not been confirmed.
View Article and Find Full Text PDFA case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17.
Mol Genet Genomic Med
July 2024
Department of Pediatrics, The University of Tokyo Hospital, Tokyo, Japan.
Background: Inherited glycosylphosphatidylinositol (GPI) deficiency is an autosomal recessive disease and a set of syndromes caused by different genes involved in the biosynthesis of phosphatidylinositol characterized by severe cognitive disability, elevated serum alkaline phosphatase (ALP) levels, and distinct facial features. This report presents a patient with inherited GPI deficiency caused by a homozygous frameshift variant of PGAP3 due to uniparental isodisomy (UPiD) on chromosome 17.
Method: Clinical characteristics of the patient were collected.
Fetal and neonatal outcomes of posterior fossa anomalies: a retrospective cohort study.
Sci Rep
April 2024
Department of Pediatrics, King Abdullah Bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh, Saudi Arabia.
Article Synopsis
- * A total of 65 cases were identified, with DWM (41.5%) and MCM (46.2%) being the most common types; the annual incidence rates varied over the years, peaking at 8.75 per 1000 anatomy scans in 2020.
- * Infants with DWM had
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