ORCID Profile
0000-0002-7690-8029
Current Organisations
Hong Kong University of Science and Technology (Guangzhou)
,
SRAYA CLINICS
,
Project IMG
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Publisher: Cold Spring Harbor Laboratory
Date: 26-08-2022
DOI: 10.1101/2022.08.23.22278845
Abstract: Developmental and epileptic encephalopathies (DEE) are a heterogenous group of epilepsies in which altered brain development can lead to developmental delay and seizures, with the epileptic activity further negatively impacting neurodevelopment 1 . Identifying the underlying cause of DEE is essential for progress towards precision therapy. Here we describe a group of patients with DEE that exhibit a unique cluster of neuroanatomical signatures due to biallelic variants in DENND5A . We demonstrate that DENND5A interacts with MUPP1 and PALS1, components of the Crumbs apical polarity complex, which is required for both neural progenitor cell identity and the ability of these stem cells to ide symmetrically 2 . Induced pluripotent stem cells lacking DENND5A fail to undergo symmetric cell ision during neural induction and have an inherent propensity to differentiate into neurons. Similarly, transgenic DENND5A mice, with phenotypes consistent with the human syndrome, have an increased number of neurons in the proliferative adult subventricular zone. Disruption of symmetric cell ision following loss of DENND5A results from misalignment of the mitotic spindle in apical neural progenitors, an observation also observed in PALS1 null zebrafish embryos 3 . This orients cells away from the proliferative apical domain surrounding the ventricles, biasing daughter cells towards a more fate-committed state, and ultimately halting neurodevelopment. This study provides a mechanism behind DENND5A -related DEE that may also be generalizable to other developmental conditions and provides variant-specific clinical information for physicians and families.
Publisher: BMJ
Date: 10-2022
DOI: 10.1136/BMJGH-2022-008797
Abstract: Childhood cancer is a leading cause of death. It is unclear whether the COVID-19 pandemic has impacted childhood cancer mortality. In this study, we aimed to establish all-cause mortality rates for childhood cancers during the COVID-19 pandemic and determine the factors associated with mortality. Prospective cohort study in 109 institutions in 41 countries. Inclusion criteria: children years who were newly diagnosed with or undergoing active treatment for acute lymphoblastic leukaemia, non-Hodgkin's lymphoma, Hodgkin lymphoma, retinoblastoma, Wilms tumour, glioma, osteosarcoma, Ewing sarcoma, rhabdomyosarcoma, medulloblastoma and neuroblastoma. Of 2327 cases, 2118 patients were included in the study. The primary outcome measure was all-cause mortality at 30 days, 90 days and 12 months. All-cause mortality was 3.4% (n=71/2084) at 30-day follow-up, 5.7% (n=113/1969) at 90-day follow-up and 13.0% (n=206/1581) at 12-month follow-up. The median time from diagnosis to multidisciplinary team (MDT) plan was longest in low-income countries (7 days, IQR 3–11). Multivariable analysis revealed several factors associated with 12-month mortality, including low-income (OR 6.99 (95% CI 2.49 to 19.68) p .001), lower middle income (OR 3.32 (95% CI 1.96 to 5.61) p .001) and upper middle income (OR 3.49 (95% CI 2.02 to 6.03) p .001) country status and chemotherapy (OR 0.55 (95% CI 0.36 to 0.86) p=0.008) and immunotherapy (OR 0.27 (95% CI 0.08 to 0.91) p=0.035) within 30 days from MDT plan. Multivariable analysis revealed laboratory-confirmed SARS-CoV-2 infection (OR 5.33 (95% CI 1.19 to 23.84) p=0.029) was associated with 30-day mortality. Children with cancer are more likely to die within 30 days if infected with SARS-CoV-2. However, timely treatment reduced odds of death. This report provides crucial information to balance the benefits of providing anticancer therapy against the risks of SARS-CoV-2 infection in children with cancer.
Publisher: BMJ
Date: 04-2022
DOI: 10.1136/BMJOPEN-2021-054690
Abstract: Paediatric cancer is a leading cause of death for children. Children in low-income and middle-income countries (LMICs) were four times more likely to die than children in high-income countries (HICs). This study aimed to test the hypothesis that the COVID-19 pandemic had affected the delivery of healthcare services worldwide, and exacerbated the disparity in paediatric cancer outcomes between LMICs and HICs. A multicentre, international, collaborative cohort study. 91 hospitals and cancer centres in 39 countries providing cancer treatment to paediatric patients between March and December 2020. Patients were included if they were under the age of 18 years, and newly diagnosed with or undergoing active cancer treatment for Acute lymphoblastic leukaemia, non-Hodgkin’s lymphoma, Hodgkin lymphoma, Wilms’ tumour, sarcoma, retinoblastoma, gliomas, medulloblastomas or neuroblastomas, in keeping with the WHO Global Initiative for Childhood Cancer. All-cause mortality at 30 days and 90 days. 1660 patients were recruited. 219 children had changes to their treatment due to the pandemic. Patients in LMICs were primarily affected (n=182/219, 83.1%). Relative to patients with paediatric cancer in HICs, patients with paediatric cancer in LMICs had 12.1 (95% CI 2.93 to 50.3) and 7.9 (95% CI 3.2 to 19.7) times the odds of death at 30 days and 90 days, respectively, after presentation during the COVID-19 pandemic (p .001). After adjusting for confounders, patients with paediatric cancer in LMICs had 15.6 (95% CI 3.7 to 65.8) times the odds of death at 30 days (p .001). The COVID-19 pandemic has affected paediatric oncology service provision. It has disproportionately affected patients in LMICs, highlighting and compounding existing disparities in healthcare systems globally that need addressing urgently. However, many patients with paediatric cancer continued to receive their normal standard of care. This speaks to the adaptability and resilience of healthcare systems and healthcare workers globally.
Publisher: American Chemical Society (ACS)
Date: 25-10-2023
Location: China
Location: No location found
Location: Egypt
No related grants have been discovered for Mahmoud Bassiony.