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Full-Text Articles in Medicine and Health Sciences
Management Of Paediatric Intracranial Ependymoma, Syeda Kubra Kishwar Jafri, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim
Management Of Paediatric Intracranial Ependymoma, Syeda Kubra Kishwar Jafri, Saqib Kamran Bakhshi, Muhammad Shahzad Shamim
Section of Neurosurgery
Intracranial ependymoma are relatively common paediatric brain tumours, but their eloquent location and high recurrence rate pose a significant challenge. Gross total resection or maximum safe resection followed by adjuvant radiotherapy are currently the standard recommended treatment, although there is still nearly 50% recurrence risk at 5 years. Chemotherapy has shown some promising results after recent advances in molecular understanding of ependymomas, but needs further evaluation before it could be added to the treatment regime.
A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson
A Pathogenic Ufsp2 Variant In An Autosomal Recessive Form Of Pediatric Neurodevelopmental Anomalies And Epilepsy, Min Ni, Bushra Afroze, Chao Xing, Chunxiao Pan, Yanqiu Shao, Ling Cai, Brandi L. Cantarel, Jimin Pei, Nick V. Grishin, Stacy Hewson
Department of Paediatrics and Child Health
Purpose: Neurodevelopmental disabilities are common and genetically heterogeneous. We identified a homozygous variant in the gene encoding UFM1-specific peptidase 2 (UFSP2), which participates in the UFMylation pathway of protein modification. UFSP2 variants are implicated in autosomal dominant skeletal dysplasias, but not neurodevelopmental disorders. Homozygosity for the variant occurred in eight children from four South Asian families with neurodevelopmental delay and epilepsy. We describe the clinical consequences of this variant and its effect on UFMylation.
Methods: Exome sequencing was used to detect potentially pathogenic variants and identify shared regions of homozygosity. Immunoblotting assessed protein expression and post-translational modifications in patient-derived fibroblasts. …