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Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

ABSTRACT: OBJECTIVE:To describe the long-term follow-up and distinct phenotype of a large cohort of patients with Gaucher disease type 3 on enzyme replacement therapy (ERT) in Egypt. METHODS:A prospective cohort study of 78 patients on ERT who were followed for up to 9 years with yearly evaluations that included EEG and cognitive testing. RESULTS:Of the patients, 73% were homozygous for the L444P GBA1 mutation; all but 7 were neurologically symptomatic. Supranuclear gaze palsy with variable but stable cognitive function was present in 91% of patients. Convergent strabismus and bulbar dysfunction were noted in 22% and 37%, respectively. Features of oppositional defiant disorder were present in 54% of patients. Twenty-three patients (30%) developed seizures while on ERT for 1-9 years. Of those, 12 patients (15%) died suddenly and unexpectedly at a mean age of 6.7 ± 5.0 years (range 1.5-18). Sudden death was usually associated with a seizure disorder or a terminal seizure, but 7 of 12 patients had a preceding normal EEG. An additional 11% had background slowing or epileptogenic activity on EEG without clinical seizures. There were 3 familial cases of sudden unexpected death. CONCLUSIONS:Despite having the most common GBA1 genotype known to be associated with neuronopathic Gaucher disease, patients with Gaucher disease type 3 in Egypt have a phenotype and a clinical outcome on ERT that are very different from those observed in other populations. Identifying putative modifying genes of this ethnic group is likely to lead to better therapy for neuronopathic Gaucher disease generally.

SUBMITTER: Abdelwahab M

PROVIDER: S-EPMC4830203 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature

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Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

Abdelwahab Magy M Blankenship Derek D Schiffmann Raphael R

Neurology. Genetics 20160225 2

<h4>Objective</h4>To describe the long-term follow-up and distinct phenotype of a large cohort of patients with Gaucher disease type 3 on enzyme replacement therapy (ERT) in Egypt.<h4>Methods</h4>A prospective cohort study of 78 patients on ERT who were followed for up to 9 years with yearly evaluations that included EEG and cognitive testing.<h4>Results</h4>Of the patients, 73% were homozygous for the L444P GBA1 mutation; all but 7 were neurologically symptomatic. Supranuclear gaze palsy with v ...[more]

PMID: 27123474

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Project description:ObjectivesSociety for Vascular Surgery practice guidelines recommend surveillance with duplex ultrasound scanning at baseline (within 3 months from discharge), every 6 months for 2 years, and annually afterward following carotid endarterectomy or carotid artery stenting. There is a growing concern regarding the significance of postoperative follow-up after several vascular procedures. We sought to determine whether 1-year loss to follow-up (LTF) after carotid revascularization was associated with worse outcomes in the Vascular Quality Initiative (VQI) linked to Vascular Implant Surveillance and Interventional Outcomes Network (VISION) database.MethodsAll patients who underwent carotid revascularization in the VQI VISION database between 2003 and 2016 were included. LTF was defined as failure to complete 1-year follow-up in the VQI long-term follow-up dataset. Data about stroke and mortality were captured in the VISION dataset using a list of Current Procedural Terminology, International Classification of Diseases (Ninth Revision), and International Classification of Diseases (Tenth Revision) codes linked to index procedures in VQI. Kaplan-Meier life-table methods and Cox proportional hazard modeling were used to compare 5- and 10-year outcomes between patients with no LTF and those who were LTF.ResultsA total of 58,840 patients were available for analysis. The 1-year LTF rate was 43.8%. Patients who were LTF were older and more frequently symptomatic, with chronic obstructive pulmonary diseases, chronic kidney diseases, and congestive heart failure. Also, patients who underwent carotid artery stenting were more likely to be LTF compared with carotid endarterectomy patients (54.5% vs 42.3%; P < .001). The incidence of postoperative (30 days) stroke was higher in the LTF group (2.9% vs 1.7%; P < .001). Cox regression analysis revealed that LTF was associated with an increased risk of long-term stroke at 5 years (hazard ratio [HR]: 1.4, 95% confidence interval [CI]: 1.2-1.6; P < .001) and 10 years (HR: 1.3, 95% CI: 1.2-1.5; P < .001). It was also associated with significantly higher mortality at 5 years (HR: 2.5, 95% CI: 2.3-2.8; P < .001) and 10 years (HR: 2.2, 95% CI: 1.9-2.5; P < .001). Stroke or death was significantly worse in the LTF group at 5 years (HR: 2.3, 95% CI: 2.1-2.5; P < .001) and up to 10 years (HR: 2.02, 95% CI: 1.8-2.3; P < .001).ConclusionsOne-year follow-up after carotid revascularization procedures was found to be associated with better stroke- and mortality-free survival. Surgeons should emphasize the importance of follow-up to all patients who undergo carotid revascularization, especially those with multiple comorbidities and postoperative neurological complications.

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Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

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Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt.

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