Background: Genetic and environmental factors affect the occurrence of vaso-occlusive crises (VOCs) in patients with sickle cell disease (SCD). Research provides inconsistent evidence on how environmental temperature affects SCD. Edmonton, Alberta, has an increasing SCD population and is the northern-most city in North America with a population of over a million. Objective: The objective of this study was to identify whether pediatric patients with SCD experience increased morbidity in cold external temperatures. Materials and Methods: This study was a retrospective case series. Emergency visits, phone calls, and admission data for VOC in children were recorded from July 2011 to June 2016. Temperatures were recorded and statistically analyzed using descriptive statistics, to determine the relation to VOC. Results: A total of 118 patients with 257 VOC events were reviewed. When analyzing the mean, minimum, and change in temperatures at presentation, the largest percentage of VOC events occurred at mild to moderate temperatures. Temperature data at 24 and 48 hours before the presentation had similar results. When accounting for the relative frequency of extreme weather days, there are increased VOC events with temperature fluctuations >20°C. Conclusions: There was no correlation between mean and minimum temperature change. Fluctuation in temperature of >20°C was associated with increased relative VOC frequency, suggesting that large temperature variability should be avoided in SCD, but a prospective study is required to determine causality.
INTRODUCTION Myxoid glioneuronal tumor, PDGFRA p. K385-mutant (MGNT) is a recently described central nervous system tumor entity typically arising from the septum pellucidum and molecularly defined by mutation of the PDGFRA oncogene. The tumor is clinically benign, can be disseminated at presentation and is managed by surgical resection with or without adjuvant therapy (Chemotherapy / Radiation). CASE REPORT: 16yr old female presented to the children’s emergency with 6-week history of increasing intensity of acute on chronic frontal headaches and single episode of seizure like activity. She did not have nausea, vomiting or any cognitive or visual disturbances. Neurological exam was normal with no evidence of papilledema. Magnetic Resonance imaging (MRI) of the brain showed a large intraventricular mass arising from the right lateral ventricle and the septum pellucidum with dissemination into the periventricular white matter, suprasellar region, right thalamus, genu and splenium of the corpus callosum and multiple foci seen in the inferior aspect of the brain stem involving the pons and medulla. There was no evidence of obstructive hydrocephalus and the spine was normal. After an initial endoscopic biopsy failed molecular testing, she underwent an open biopsy which confirmed the diagnosis of MGNT histologically and NGS testing of the tumor revealed mutation at codon 385 (leucine replacing lysine) in the PDGFRA oncogene (k385l). Since the tumor was disseminated and the headache was controlled with symptomatic treatment, she was managed with regular follow up without surgery, adjuvant chemotherapy or radiation. The patient is doing well at 8 months follow up without any symptoms and stable lesions on the MRI. CONCLUSION Based on our experience and literature review, MGNT with PDGFRA-k385l mutation is a clinically benign tumor even though it can be disseminated at presentation and can be managed conservatively without any adjuvant therapy.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.