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The impact of combining educational program with the improving of infrastructure to diagnose on early detection of primary immunodeficiencies in children

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Abstract

Early detection of primary immunodeficiency diseases (PID) is vital for adequate prevention and management of PID infectious complications. The objective of this study was to evaluate the impact of a model combining physician education and public awareness with the infrastructure to diagnose PID to improve its early detection in children. Three approaches were combined and the results were followed from February 2017 to February 2019 in Ternopil region, Ukraine: the education of primary care physicians and other specialists on early PID detection using workshops, trainings, and targeted publications; organization of public events and media appearances to raise PID awareness; performing immunological testing for patients with suspected PID. Among the 150 individuals that were screened, PID was diagnosed in 19 patients (12.7%). The majority of diagnosed PID cases were combined immunodeficiency with associated or syndromic features, followed by antibody deficiencies. Patients referred by the specialist doctors had the highest percentage of confirmed PID compared with those referred by primary care physicians (p = 0.0273) and risk group patients (p = 0.0447). Among warning signs in patients with PID, two or more pneumonias within 1 year occurred most often (26.3%), followed by failure of an infant to gain weight or grow normally (21.1%). Among other signs of PID, dysmorphic features and microcephaly were the most prevalent (31.6%). In conclusion, a program combining physician education and public awareness with infrastructure needed to diagnose primary immunodeficiency diseases is an effective tool for early PID diagnosis. Physician education was a more effective tool compared with rising public awareness.

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References

  1. Modell V, Orange JS, Quinn J, Modell F. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomes. Immunol Res. 2018;66:367–80. https://doi.org/10.1007/s12026-018-8996-5.

    Article  CAS  PubMed  Google Scholar 

  2. Pessach I, Walter J, Notarangelo LD. Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes. Pediatr Res. 2009;6:3–12.

    Article  Google Scholar 

  3. Boyarchuk O, Lewandowicz-Uszyńska A, Kinash M, Haliyash N, Sahal I, Kovalchuk T. Physicians’ awareness concerning primary immunodeficiencies in the Ternopil Region of Ukraine. Pediatria Polska - Polish J Paediatr. 2018;93(3):221–8. https://doi.org/10.5114/polp.2018.77435.

    Article  Google Scholar 

  4. Eades-Perner A, Gathmann B, Knerr V, Guzman D, Veit D, Kindle G, et al. The European internet-based patient and research database for primary immunodeficiencies: results 2004–06. Clin Exp Immunol. 2007;147:306–12. https://doi.org/10.1111/j.1365-2249.2006.03292.x.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Chernyshova LI, Bondarenko AV, Kostyuchenko LV, Savvo OM, Volokha AP, Rabosh OV. Epidemiologiya pervynnych imunodeficytiv v Ukrayini za danymy reyestru paciyentiv. Zdorov’e rebenka. 2015;7:16–23.

    Google Scholar 

  6. Boyarchuk O, Volyanska L, Kosovska T, Lewandowicz-Uszynska A, Kinash M. Awareness about primary immunodeficiency diseases among medical students. Georgian Med News. 2018;12(285):124–30.

    Google Scholar 

  7. Boyarchuk O, Kinash M, Hariyan T, Bakalyuk T. Evaluation of knowledge about primary immunodeficiencies among postgraduate medical students. Arch Balkan Med Union. 2019;54(1):11–9.

    Article  Google Scholar 

  8. Modell F, Puente D, Modell V. From genotype to phenotype. Further studies measuring the impact of a Physician Education and Public Awareness Campaign on early diagnosis and management of primary immunodeficiencies. Immunol Res. 2009;44(1):132–49.

    Article  Google Scholar 

  9. Marodi L, Casanova JL. Primary immunodeficiency diseases: the J project. Lancet. 2009;373(9682):2179–81.

    Article  Google Scholar 

  10. Maródi L, the J Project study group. Fifteen years of the J Project. J Clin Immunol. 2019;39:363.

    Article  Google Scholar 

  11. Subbarayan A, Colarusso G, Hughes SM, Gennery AR, Slatter M, Cant AJ, et al. Clinical features that identify children with primary immunodeficiency diseases. Pediatrics. 2011;127(5):810–6.

    Article  Google Scholar 

  12. Alvarez-Cardona A, Espinosa-Padilla SE, Reyes SOL, et al. Primary immunodeficiency diseases in Aguascalientes, Mexico: results from an educational program. J Clin Immunol. 2016;36:173–8.

    Article  CAS  Google Scholar 

  13. Pac M, Bernatowska E. Comprehensive activities to increase recognition of primary immunodeficiency and access to immunoglobulin replacement therapy in Poland. E Eur J Pediatr. 2016;175:1099.

    Article  CAS  Google Scholar 

  14. Varon R, Seemanova E, Chrzanowska K, Hnateyko O, Piekutowska-Abramczuk D, Krajewska-Walasek M, et al. Clinical ascertainment of Nijmegen breakage syndrome (NBS) and prevalence of the major mutation, 657del5, in three Slav populations. Eur J Hum Genet. 2000;8(11):900–2.

    Article  CAS  Google Scholar 

  15. Boyarchuk O, Volyanska L, Dmytrash L. Clinical variability of chromosome 22q11.2 deletion syndrome. Central Eur J Immunol. 2017;42(4):412–7.

    Article  Google Scholar 

  16. Galal N, Ohida M, Meshaal S, Abd Elaziz D. Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy. Afr Health Sci. 2019;19(1):1449–59.

    Article  Google Scholar 

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Funding

This study was funded by the Jeffrey Modell Foundation.

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Authors and Affiliations

  1. Department of Children’s Diseases and Pediatric Surgery, I.Horbachevsky Ternopil National Medical University, 1, Maidan Voli, Ternopil, 46001, Ukraine

    Oksana Boyarchuk, Tetyana Hariyan, Maria Kinash & Lyubov Volyanska

  2. Department of Children’s Infectious Diseases and Pediatric Immunology, Shupyk National Medical Academy of Postgraduate Education, 9, Dorohozhytska St, Kyiv, 04112, Ukraine

    Alla Volokha

  3. Medical Biochemistry Department, I.Horbachevsky Ternopil National Medical University, Voli Square, 1, Ternopil, 46002, Ukraine

    Inna Birchenko & Mychaylo Korda

  4. Department of Functional and Laboratory Diagnostics, I.Horbachevsky Ternopil National Medical University, Voli Square, 1, Ternopil, 46002, Ukraine

    Halyna Habor

Authors
  1. Oksana Boyarchuk
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  2. Alla Volokha
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  3. Tetyana Hariyan
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  4. Maria Kinash
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  5. Lyubov Volyanska
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  6. Inna Birchenko
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  7. Halyna Habor
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  8. Mychaylo Korda
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Oksana Boyarchuk, Tetyana Hariyan, and Maria Kinash. The first draft of the manuscript was written by Oksana Boyarchuk and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Oksana Boyarchuk.

Ethics declarations

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee (I.Horbachevsky Ternopil State Medical University ethical committee) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

Conflict of interest

The authors declare that there is no conflict of interest.

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Boyarchuk, O., Volokha, A., Hariyan, T. et al. The impact of combining educational program with the improving of infrastructure to diagnose on early detection of primary immunodeficiencies in children. Immunol Res 67, 390–397 (2019). https://doi.org/10.1007/s12026-019-09103-w

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  • DOI: https://doi.org/10.1007/s12026-019-09103-w

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