KaydedilenlerDerginizi ekleyin

Dergiler / The Journal of Pediatric Research / 2019 / Cilt: 6 - Sayı: 4

Knowledge of Primary Care Physicians on Lysosomal Storage Disorders

Engi̇n KÖSE
Selda BÜLBÜL
Nur ARSLAN
Sayfa
292–298
DOI
—
🏛️Bu makalenin bibliyografik verileri ve tam metin bağlantısı DergiPark üzerinden sağlanmıştır.
DergiPark Kaydı ↗
✨

Yapay Zeka Hızlı Bakış & Çıkarımlar

AI Insight
⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Undergraduate medical education and postgraduateeducations play a key role to raise awareness.

📌 3 Maddede Bu Makale

🎯
Amaç & Hipotez:Aim: Since patients with lysosomal storage disorders (LSDs) often apply to primary care physicians initially, these doctors play a crucial rolein the early diagnosis of LSDs.
📊
Temel Bulgular & Veri:In this study, we aimed to determine the knowledge and awareness of primary care physicians regarding LSDs.Materials and Methods: We conducted a survey between January 2016 and April 2016 among primary care physicians from various regionsof Turkey.
💡
Sonuç & Katkı:Undergraduate medical education and postgraduateeducations play a key role to raise awareness.
🔬Tür:Uygulamalı Anket & Alan Araştırması
📍Kapsam:2016 Verileri
⚙️Değişkenler:Alan Parametreleri

Özet

Aim: Since patients with lysosomal storage disorders (LSDs) often apply to primary care physicians initially, these doctors play a crucial rolein the early diagnosis of LSDs. In this study, we aimed to determine the knowledge and awareness of primary care physicians regarding LSDs.Materials and Methods: We conducted a survey between January 2016 and April 2016 among primary care physicians from various regionsof Turkey. Invitation e-mail was randomly sent to the individual e-mail address of each physician for a web-based survey. The questionnaireglobally consisted of three sections with a total of 30 questions. In the first part of the survey, demographic characteristics of physicians(age, gender, career information) were recorded. The second section consisted of questions on LSDs for the evaluation of knowledge amongphysicians. In the third section of survey, questions were about the reasons of insufficient knowledge on LSDs and possible solutions to raiseawareness.Results: A total of 261 primary care physicians [109 females (41.8%), mean age 40.1±8.8 years] were enrolled in the study. The mean workingtime was 14.9±8.6 years. Among the participants, 75.8% and 88.8% stated that they had never encountered an LSD patient before and neverconsidered LSDs as a differential diagnosis for any patient, respectively. Fifteen percent of physicians stated that they had no idea about theclinical findings and symptoms of LSD. Another 26.2% of the participants stated that LSD is screened during the neonatal screening programin Turkey. Mean “total knowledge score” of the physicians was 13.47±5.85 points [median=15.0 (10.5-18.0)] out of 25. Six (2.3%) primary carephysicians had a total score of “0”. Only 1 of them scored “25” points.Conclusion: Knowledge of primary care physicians on LSDs is not satisfactory in Turkey. Undergraduate medical education and postgraduateeducations play a key role to raise awareness.

🔖

Bu Makaleye Atıf Yap

KÖSE, E., BÜLBÜL, S., ARSLAN, N. (2019). Knowledge of Primary Care Physicians on Lysosomal Storage Disorders. The Journal of Pediatric Research, Cilt: 6 - Sayı: 4, 292–298. https://ajindex.com/articles/362906

📄 Tam Metin PDF Okuyucu

📄

PDF görüntüleyici hazırlanıyor...

Kaynakça (15)

  1. Heese BA. Current strategies in the management of lysosomal storage diseases. Semin Pediatr Neurol 2008;15:119-26
  2. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54
  3. Peters C, Steward CG; National Marrow Donor Program; International Bone Marrow Transplant Registry; Working Party on Inborn Errors, European Bone Marrow Transplant Group. Hematopoietic cell transplantation for inherited metabolic diseases: an overview of outcomes and practice guidelines. Bone Marrow Transplant 2003;31:229-39
  4. Bulbul FS, Dursun O, Dursun ZE. Kırıkkale’de Çalışan Hekimlerin Fabry Hastalığı ve Kalıtsal Metabolizma Hastalıkları Konusunda Farkındalık Durumu. J LSD 2012;4:1-8
  5. Elliott E, Zurynski Y. Rare diseases are a ‘common’ problem for clinicians. Aust Fam Physician 2015;44:630-3
  6. Groft SC. Rare diseases: identifying needs. Report of the National Commission on Orphan Diseases. Am Pharm 1990;30:33-40
  7. Kishnani PS, Amartino HM, Lindberg C, et al. Pompe Registry Boards of Advisors. Timing of diagnosis of patients with Pompe disease: data from the Pompe registry. Am J Med Genet A 2013;161:2431-43
  8. Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust 2006;185:82-3
  9. Lisi EC, Gillespie S, Laney D, Ali N. Patients’ perspectives on newborn screening for later onset lysosomal storage diseases. Mol Genet Metab 2016;119:109-14
  10. Matern D, Oglesbee D, Tortorelli S. Newborn screening for lysosomal storage disorders and other neuronopathic conditions. Dev Disabil Res Rev 2013;17:247-53
  11. Meikle PJ, Grasby DJ, Dean CJ, et al. Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006;88:307-14
  12. Phillips WR. Zebras on the common: rare conditions in family practice. J Am Board Fam Pract 2004;17:283-6
  13. MacIntyre FL. One in a million: when extraordinary cases occur in an ordinary practice. J Fam Pract 1993;36:17-8
  14. Kirby T. Australia makes up for lost time on rare diseases. Lancet 2012;379:1689-90
  15. Zurynski Y, Frith K, Leonard H, Elliott E. Rare childhood diseases: How should we respond? Arch Dis Child 2008;93:1071-4