Παιδιατρική | Τόμος 88 • Tεύχος 2 • Μάιος - Ιούνιος - Ιούλιος - Αύγουστος 2025

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Υποβολή εργασιών e-mail: grammateia@e-child.gr

Οδηγίες

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Iδιοκτήτης

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e-mail: grammateia@e-child.gr Eτήσια

Volume 88 | Number 1 | January -February-March-April 2025

Four

060

EDITORIAL

Stelios Antoniadis

062

ARTICLE OF SPECIAL INTEREST

About pedophilia

Anna Tsakalidou, Zisis Papathanasiou

066

REVIEW ARTICLES

Cytogenetics and prenatal testing

Anastasia Stathopoulou

080

Tobacco and related products use in adolescence: a current global scourge

Vasiliki Gketsi, A. Gkrepi, M.E.Papasavva

098

Infant immunization in the pediatrician’s office

Αlexios Mavroudis

104

Laboratory diagnostics for COVID-19 infection in childhood.

Αlexios Mavroudis

President

A. Constantopoulos

Editorial board

Editor- in- Chief

S. Antoniadis

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P. Panagiotopoulou-Gartagani

A. Papadopoulou

V. Papaevagelou

A. Papathanassiou

A. Siamopoulou-Mavridou

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112

CASE REPORT

Impact of the Snoezelen multisensory environment on a child with multiple disabilities and his mother

Konstantina Neofotistou, Eleni Fotiadou, Olga Tzetzi

118

BETWEEN COLLEAGUES

Stelios Antoniadis

120

INSTRUCTIONS TO AUTHORS

Κ.

e-mail: opavanna@gmail. com

Correspondence

Anna Tsakalidou

Τ. +30 2310382018

Κ. +30 6944757558

e-mail: opavanna@gmail. com

e-mail: anastasia14@ windowslive.com

ΕΥΧΑΡΙΣΤΙΕΣ

Correspondence

Stathopoulou Anastasia

Τ. +30 6972100002

e-mail: anastasia14@ windowslive.com

Cytogenetics and prenatal testing

ABSTRACT

This paper presents an extensive review of cytogenetics and prenatal testing, with an emphasis on modern diagnostic techniques and their application in clinical practice. Initially, the fundamental principles of cytogenetics are analysed, along with methods of chromosomal analysis and technologies such as FISH, QF-PCR, MLPA, and array-CGH, which enable the detection of chromosomal abnormalities with high accuracy. Subsequently, the main methods of prenatal diagnosis, both invasive and non-invasive, are examined, as well as the indications that determine their necessity. Finally, the importance of genetic counselling and the ethical issues that arise in the context of prenatal information are highlighted. The aim of this paper is to showcase both the complexity and the critical importance of prenatal screening in the timely and reliable diagnosis of genetic disorders.

Key words: Cytogenetics, prenatal testing

3.

5.

1.3

1.4 Quantitative Fluorescence Polymerase Chain Reaction (QF-PCR)

(https://devyser.com/blog/principles-of-qf-pcr)

tion-dependent probe amplification-MLPA)

(microarray-based comparative genomic hybridization-array CGH)

2.2.1

Sampling/CVS)

Βιβλιογραφία

[1] H. F. W. Robert L. Nussbaum, Roderick R. McInnes, Genetics in Medicine. Thompson & Thompson, 2015.

[2] A. K. C. Estandarte, “A Review of the Different Staining Techniques for Human Metaphase Chromosomes,” 2012. doi: 10.1007/BF00652622.

[3] B. Howe, A. Umrigar, and F. Tsien, “Chromosome preparation from cultured cells,” J. Vis. Exp., no. 83, pp. 3–7, 2014, doi: 10.3791/50203.

[4] A. Alamri, J. Y. Nam, and J. K. Blancato, “Fluorescence in situ hybridization of cells, chromosomes, and formalin-fixed paraffin-embedded tissues,” Methods Mol. Biol., vol. 1606, pp. 265–279, 2017, doi: 10.1007/978-1-4939-6990-6_17.

[5] L. G. Shaffer and T. H. Bui, “Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis,” Am. J. Med. Genet. Part C Semin. Med. Genet., vol. 145, no. 1, pp. 87–98, 2007, doi: 10.1002/ajmg.c.30114.

[6] G. M. Grimshaw et al., “Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities,” Health Technol. Assess. (Rockv)., vol. 7, no. 10, 2003, doi: 10.3310/ hta7100.

[7] J. P. Schouten, “Relative quantification of 40 nucleic acid sequences by multiplex ligationdependent probe amplification,” Rev. Rom. Med. Lab., vol. 26, no. 4, pp. 461–470, 2002, doi: 10.2478/rrlm-2018-0032.

[8] B. Brambati, L. Tului, and E. Alberti, “Prenatal diagnosis by chorionic villus sampling,” Eur. J. Obstet. Gynecol. Reprod. Biol., vol. 65, no. 1, pp. 11–16, 1996, doi: 10.1016/00282243(95)02295-4.

[9] R. D. Wilson, “Early amniocentesis: A clinical review,” Prenat. Diagn., vol. 15, no. 13, pp. 1259–1273, 1995, doi: 10.1002/pd.1970151307.

[10] L. Al-Hafez, S. P. Chauhan, M. Riegel, O. A. Balogun, I. A. Hammad, and V. Berghella, “Routine third-trimester ultrasound in low-risk pregnancies and perinatal death: a systematic review and meta-analysis,” Am. J. Obstet. Gynecol. MFM, vol. 2, no. 4, p. 100242, 2020, doi: 10.1016/j.ajogmf.2020.100242.

[11] M. Abedalthagafi, S. Bawazeer, R. I. Fawaz, A. M. Heritage, N. M. Alajaji, and E. Faqeih, “Non-invasive prenatal testing: a revolutionary journey in prenatal testing,” Front. Med., vol. 10, 2023, doi: 10.3389/fmed.2023.1265090.

[12] M. S. Alberry, E. Aziz, S. R. Ahmed, and S. Abdel-fattah, “Non invasive prenatal testing (NIPT) for common aneuploidies and beyond,” Eur. J. Obstet. Gynecol. Reprod. Biol., vol. 258, pp. 424–429, 2021, doi: 10.1016/j.ejogrb.2021.01.008.

[13] X. Wei, “Optimizing peripheral blood chromosome analysis: effects of refrigeration time and blood volume,” Am. J. Transl. Res., vol. 16, no. 4, pp. 1237–1245, 2024, doi: 10.62347/ vzbp5808.

[14] N. G. Than and Z. Papp, “Ethical issues in genetic counseling,” Best Pract. Res. Clin. Obstet. Gynaecol., vol. 43, pp. 32–49, 2017, doi: 10.1016/j.bpobgyn.2017.01.005.

NCBI, National Centre for Biotechnology Information https://www.ncbi.nlm.nih.gov/ Gene Cards, The Human Gene Database https://www.genecards.org/ Researchgate.net [Webpage, Internet] www.researchgate.net

UNIQUE-Understanding Rare Chromosome and Gene Disorders www.rarechromo.org WiCell Research Institute https://www.wicell.org/ Memorial University of Newfoundland https://www.mun.ca/

Correspondence

Vasiliki Gketsi

General Makrigiannis Avenue 60, PC 454 45 Τ. +30 2651080785

e-mail: vikigetsi@gmail.com

Tobacco and related products use in adolescence: a current global scourge

Abstract

Smoking is one of the leading preventable causes of death worldwide. Its harmful effects are cumulative and there is no safe level of active or passive exposure to tobacco. The huge variety of smokeless and non-smoked tobacco products on the market, combined with advertising targeting minors and lack of compliance with laws, leads to unimaginable numbers of young users, who risk remaining addicted for life. Tobacco industry is constantly flourishing, always finding ways to make smoking attractive to children and adolescents through fashion, advertising, films, social media and the avoidance of compliance with regulations regarding the marketing and sale of tobacco products. Measures must be taken by the State to disengage anti-tobacco policy from the influence of the tobacco industry and e-cigarette companies, to limit uncontrolled advertising aimed at minors and to intensify information programs on the dangers of smoking even for very young children.

Keywords: smoking, tobacco products, vaping, smoke, nicotine

Vasiliki Gketsi, A. Gkrepi

Department of Pediatrics, General Hospital of Ioannina “G. Hatzikosta”, Ioannina, Greece

M.E.Papasavva

Department of Pediatrics & Department of Hameglobinopathies, General Hospital of Ioannina “G. Hatzikosta”, Ioannina, Greece

3.

2.

3. Paan

(1989) (https://en.wikipedia.org/wiki/Camel_ (cigarette))

www.mononews.gr/life-style/16-exofrenikes-diafimisis-proionton-kapnou-pou-tha-itanparanomes-simera)

2019,

General snus

Swedish Match

Εικόνα 6 https://www.intronews.gr/life/tsigara-diasimotites-kapnisma/

Εικόνα 7 https://www.tovima.gr/grace/tag/tsigara/

(WHO).

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Correspondence

Alexios Mavroudis MD,Msc. Erithrou stavrou terma

c.p 22131, Tripoli Arcadia, Greece

T. +306978699611

e-mail: alexis.mavroudis@ yahoo.gr

Infant immunization in the pediatrician's office

Abstract

The immunization of infants presents a unique challenge for paediatricians due to the immature immune system and the limited protection it provides. Typically, multiple doses of vaccines are necessary to enhance the immune response, stimulate the production of protective antibodies, and promote the selective development of memory B lymphocytes. In response to these challenges, the scientific community is exploring innovative biotechnological approaches aimed at optimizing immune system function. This includes the development of immunologic adjuvant that, when combined with advanced personalized medicine techniques can reduce the required vaccine dosage and mitigate the risk of antimicrobial tolerance. Emerging research focused on the genomic footprinting of infants is paving the way for the creation of vaccines that ensure both safety and long-term efficacy.

Keywords: immunization, immunologic adjuvant, biotechnology, personalised medicine, vaccination.

Αlexios Mavroudis

Peadiatric department

General Hospital of Evangelistria, Tripoli, Greece

(IL-12,

Κατάλογος

APC: Antigen-presenting

CCL/CXCL: Chemoκine ligand

CD: Cluster of Differentiation

DCs: Dendritic Cells

IL: Interleukin

INF: Ιnterferon

NK: Natural Killer

RNA: Ribonucleic acid

TLR: Toll Like Receptor

TNF: Tumor Necrosis

Curdlan

της σύνθεσης κυτταροκινών / χημειοκινών.

• Στρατολόγηση

• Κυτταρική πρόσληψη στο

1. Παναγιώτα

2022;18,1:34 – 36.

2. Richard Farmer, Ross Lawrenson, David Miller. Εμβολιασμός. Επιστημονικές Εκδόσεις Παρισιάνου. 5η έκδοση. Αθήνα: 2011. p. 122-135.

3. Hellenic Medical Review [Webpage, Internet]. Aθήνα:

Εταιρείας;2022: https://hellenicmedicalreview.gr/therapeies/pagkosmia-emvoliastiki-kalypsi-dedomena-ton-teleftaion-eton-kai-mellontikoi-stochoi.

4. Δημήτριος

2024. p. 60-61.

5. Renato Soibelmann Procianoy, Rita C Silveira, The challenges of neonatal sepsis management. J Pediatr (Rio J) 2020 Mar-Apr;96 (1 Suppl):80-86.

6. Isaac G Sakala, Katherine Marie Eichinger, Nikolai Petrovsky. Neonatal vaccine effective-

ness and the role of adjuvants. Expert Rev Clin Immunol. 2019 Aug;15(8):869-878.

7. April C Apostol, Kirk D C Jensen, Anna E Beaudin, Training the Fetal Immune System Through Maternal Inflammation-A Layered Hygiene Hypothesis. Front Immunol 2020 Feb 11:11:123.

8. Tobias R Kollmann, Arnaud Marchant, Sing Sing Way. Vaccination strategies to enhance immunity in neonates. Science. 2020 May 8;368(6491):612-615.

9. Helen S Goodridge, S Sohail Ahmed, Nigel Curtis, Tobias R Kollmann, Ofer Levy, Mihai G Netea et al. Harnessing the beneficial heterologous effects of vaccination. Nat Rev Immunol. 2016 Jun;16(6):392-400.

10.

2021;1,1:11 - 17.

11. Anja Saso, Beate Kampmann. Vaccine responses in newborns. Semin Immunopathol. 2017 Nov;39(6):627-642.

12. Frenck RW, Klein NP, Kitchin N, Gurtman A, Absalon J, Lockhart S, et al. Safety, Immunogenicity, and Efficacy of the BNT162b2 Covid19 Vaccine in Adolescents. N Engl J Med. 2021 Jul 15;385(3):239–50.

13. Siyue Jia, Jingxin Li, Yuanbao Liu, Fengcai Zhu. Precision immunization: a new trend in human vaccination. Hum Vaccin Immunother. 2020 Mar 3;16(3):513-522.

Correspondence

Alexios Mavroudis MD,Msc.

Erithrou stavrou terma

c.p 22131, Tripoli Arcadia, Greece

T. +306978699611

e-mail: alexis.mavroudis@ yahoo.gr

Laboratory diagnostics for COVID-19 infection in childhood.

Αlexios Mavroudis

Abstract

Introduction: Laboratory diagnostics in patients with Covid-19 infection is an important laboratory challenge for the pediatric clinician since it studies the qualitative evolution of the disease over time.

Objective: Evaluation of laboratory tests in diagnosis, verification of results and monitoring of the disease.

Material: Literature review of recent scientific articles.

Methods: Use of internet search tools (pub med).

Results: Serological and molecular identification methods for SARS-CoV-2 exist that allow identification of viral infection. However, studies suggest that serological techniques for detecting antibodies in blood serum are not always a reliable source of diagnosis. It is considered that the viral load, the heritability for an individualised reaction, the type of antibodies produced (neutralising or diagnostic only), their residence time in the blood serum and the presence of cross-reactions formulate the weakness of the immune response. There is reduced T-lymphocyte functionality, inactivation of B-lymphocytes and reduced production of neutralising antibodies. This is the natural 'switch-switch' phenomenon, which is characterised by the weak production of IgM antibodies to the SARS-CoV-2 S and N glycoprotein and the presence of a wider range of specificities and novel isotypes (such as IgG, IgM and IgA types). It is a biological discrepancy that occurs mainly in patients with mild symptoms, which demonstrates the need for a laboratory network with infection prevention and control practices for early diagnosis.

Conclusion: Serological tests are a diagnostic approach for the pediatric patient, but without reliably capturing the sensitivity of the results, so that their finalization is carried out using molecular techniques, with PCR (Polymerase chain reaction) predominating.

Keywords: laboratory, diagnosis, antibodies, biopathology, Covid-19.

Αlexios Mavroudis

Peadiatric department

General Hospital of Evangelistria, Tripoli, Greece

(Open Reading Frames, ORFs),

Κατάλογος

ACE: AngiotensinConverting Enzyme-2

CD: Cluster of differentiation

Σύμπλεγμα

Ig: Immunoglobulin

ORF: Open Reading Frames

PCR: Polymerase Chain Reaction Aλυσιδωτή

RBD: Receptor Binding Domain

RNA: Ribonucleic acid

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e-mail: kneofoti@yahoo.gr

Correspondence

Neofotistou Konstantina Voriou Ipirou, Sikies, Thessaloniki Τ. +30 6946914234

e-mail: kneofoti@yahoo.gr

Impact of the Snoezelen multisensory environment on a child with multiple disabilities and his mother

Abstract

Background: The Snoezelen multisensory environment is an innovative intervention method that aims to activate and relax the senses through various sensory stimuli. The Snoezelen method enhances awareness, environmental exploration, and social skills, while reducing negative behavior and increasing concentration. This approach has been successfully applied to people with multiple disabilities, enhancing communication, emotional connection and quality of life. Particular emphasis is placed on the active participation of the family, as parents of children with severe disabilities face intense stress and mental burden. The multisensory environment operates as a space of shared experience, where the child and parent meet as equals, without the pressure of daily care or therapeutic demands. The aim of the research was to study the impact of the intervention program on both the child and the mother, according to the recording of the mother's views. Methods: In this case study, a Snoezelen multisensory room intervention program was implemented with a child with visual impairment and additional disabilities and his mother. Six sessions were conducted, where positive results were observed for both the child (relaxation, interest in stimuli) and the mother (strengthened bond, better understanding of the child).

Results: According to the results of this study, the Snoezelen room can be a valuable tool for strengthening the family and improving the quality of life of children with multiple disabilities.

Discussion: The study highlights the importance of family participation and suggests further research to generalize the results and evaluate the long-term effectiveness of this method.

Keywords: Child, family, multiple disabilities, sensory integration

Konstantina Neofotistou

Syzoi, Parents Association of people with visual impairments and additional disabilities, Thessaloniki

Eleni Fotiadou

Labaratory of Motor Behavior and Adapted Physical Activity, School of PE & Sports Science, Aristotle University of Thessaloniki

Olga Tzetzi

Private Pediatrician, Thessaloniki

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