Academic Journal
Retrospective Analysis of Non-Ketotic Hyperglycinemia Patients in Central and Eastern Kentucky
| العنوان: | Retrospective Analysis of Non-Ketotic Hyperglycinemia Patients in Central and Eastern Kentucky |
|---|---|
| المؤلفون: | Reeves, Shane |
| المصدر: | Theses and Dissertations--Public Health (M.P.H. & Dr.P.H.) |
| بيانات النشر: | UKnowledge |
| سنة النشر: | 2023 |
| المجموعة: | University of Kentucky: UKnowledge |
| مصطلحات موضوعية: | NKH, Nonketotic Hyperglycinemia, Central and Eastern Kentucky, Public Health |
| الوصف: | Aim: To obtain a better understanding of the non-ketotic hyperglycinemia (NKH) patient population in regards to clinical features, mortality, geographic clustering, genetics, and incidence rate within the University of Kentucky (UK) catchment area of Central and Eastern Kentucky. Methods: Patients with ICD codes corresponding to NKH who were treated at UK between January 1, 2008, and July 1, 2022, and who had clinical documentation available for review were identified through UK’s medical records (N=15). Demographic and clinical data were obtained through review of these patient’s charts in the electronic medical record. Differences in features among patients was assessed utilizing Fisher Exact Test and ANOVA when appropriate. Incidence rate was calculated using live birth data provided by the Kentucky Cabinet for Health and Family Services. Results: Statistically more neonatal onset patients were male (60%) compared to later onset periods (0%); however, the overall population was predominately female. Statistically more neonatal onset patients had excessive hiccups reported (60%) compared to later onset periods (0%). There were no other statistically significant differences between onset periods or between the GLDC and AMT mutated groups. Most common symptoms included: poor feeding (87% presented/ 100% lifetime development), hypotonia (67% presented/ 87% lifetime development), and seizures (60% presented/ 87% lifetime development). 100% of patients who lived past neonatal period developed developmental delay. 87% of NKH patients (80% of neonatal onset patients) were still living as of January 1, 2023. There were 9 patients that had genetic data available. 8/9 had mutations in the GLDC and 5/6 with specific mutational data available had the c.1166C>T variant corresponding to a A389V change. The observed incidence rate among UK’s catchment area between 2008 and 2022 was 2.1 per 100,000. Discussion: While there were few major differences observed between onset periods or between the gene that was mutated; there ... |
| نوع الوثيقة: | text |
| وصف الملف: | application/pdf |
| اللغة: | unknown |
| Relation: | https://uknowledge.uky.edu/cph_etds/378; https://uknowledge.uky.edu/context/cph_etds/article/1378/viewcontent/Retrospective_Analysis_of_Nonketotic_Hyperglycinemia_Patients_in_Central_and_Eastern_Kentucky.pdf |
| الاتاحة: | https://uknowledge.uky.edu/cph_etds/378 https://uknowledge.uky.edu/context/cph_etds/article/1378/viewcontent/Retrospective_Analysis_of_Nonketotic_Hyperglycinemia_Patients_in_Central_and_Eastern_Kentucky.pdf |
| رقم الانضمام: | edsbas.2FCCDA27 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |