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Παιδιατρική | Τόμος 76 • Τεύχος 3 • Ιούλιος - Αύγουστος - Σεπτέμβριος 2013

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Paediatriki

Volume 76 • Number 3 • July-August-September 2013

Trimonthly publication of the Greek Paediatric Society

President

A. Constantopoulos

Editorial board

Director

G. S. Varlamis

Members

S. Andronikou

E. Galanakis

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L. Thomaidou

M. Kanariou

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S. Kitsiou-Tzeli

E. Mantadakis

P. Panagiotopoulou-Gartagani

A. Papadopoulou

V. Papaevagelou

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A. Siamopoulou-Mavridou

A. Syrigou-Papavasiliou

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EDITORIAL

G.S. Varlamis

GUIDELINES

Recommended standards for spatial and functional organization of the Neonatal Intensive Care Units

Dimitrios Rallis, Eleni Mylona, Paraskevi Karagianni, Christos Tsakalidis

SPECIAL ARTICLE

Practical approach of marked and persistent eosinophilia in children

Alexandros Makis, Nikolaos Chaliasos, Antigone Siamopoulou

REVIEW ARTICLES

Hematological manifestations in systemic autoimmune diseases of childhood

Alexandros Makis, Antigone Siamopoulou

ORIGINAL ARTICLES

Association between ficolin 2 polymorphisms and bacterial infections in children with acute lymphoblastic leukemia

Zoe Dorothea Pana, Rigini Papi, Athanasios Tragiannidis, Charalampos Antachopoulos, Theodotis Papageorgiou, Fekri Samarah, Norma Vavatsi Christaki, Evagelia Farmaki, Dimitrios Kiriakidis, Emmanouil Hatzipantelis, Emmanuel Roilides, Fani Athanassiadou

Increased levels of hmgb1 protein and low expression of immune-inhibitory receptor lair-1 on ths plasmatoid dendritic cells in patients with juvenile systemic lupus erythematus. Νew therapeutic targets?

Florence Kanakoudi-Tsakalidou, Evaggelia Farmaki, Vasiliki Tzimouli, Anna Taparkou, George Paterakis, Maria Trachana, Polyxeni Pratsidou-Gertsi, Panagiota Nalbanti, Fotis Papachristou

Εvaluation of therapeutic treatment depending on the severity of bronchiolitis

Panagiota Zikidou, Athanasia Chainoglou, Kyriaki Karafyllidou, Banou Karachousein Chasan, Lampros Simoglou, Aise Chatzi Serif Amet, Maria Valkanou, Maria Topalidou, Eleni Kifnidou, Anna Pantazi

Cyberbullying among adolescents in seven european countries: a cross-sectional study

Artemis Tsitsika, Mari Janikian, Eleni Tzavela, Vasiliki Dimitrakopoulou, Ourania Tsouridi, S. Wójcik, K. Makaruk, Chara Tzavara, the EU NET ADB Consortium, D. Greydanus, C. Richardson

Smoking and alcohol use in adolescence: inevitable coexistence? Magdalini Patseadou, Assimina Galli-Tsinopoulou, Malamatenia ArvanitidouVayona, Georgios Varlamis, Maria Emporiadou

Π. Παναγιωτοπούλου-Γαρταγάνη

Α. Παπαδοπούλου

Β. Παπαευαγγέλου

Α. Παπαθανασίου

Α. Σιαμοπούλου-Μαυρίδου Α. Συρίγου-Παπαβασιλείου

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

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Iδιοκτήτης Eλληνική

Eταιρεία

15,15451, Ν. Ψυχικό Tηλ.: 2107771140 e-mail: grammateia@e-child.gr

€40 Eιδικευόμενοι,

€20 Τριμηνιαία

Paediatriki

Volume 76 • Number 3 • July-August-September 2013

Trimonthly publication of the Greek Paediatric Society

President

A. Constantopoulos

Editorial board

Director

G. S. Varlamis

Members

S. Andronikou

E. Galanakis

A. Evangeliou

L. Thomaidou

M. Kanariou

A. Kapogiannis

S. Kitsiou-Tzeli

E. Mantadakis

P. Panagiotopoulou-Gartagani

A. Papadopoulou

V. Papaevagelou

A. Papathanassiou

A. Siamopoulou-Mavridou

A. Syrigou-Papavasiliou

Manuscript submission

e-mail: grammateia@e-child.gr

Instructions to authors: http://e-child.gr/publications/ instructions-to-authors

Owner

Greek Paediatric Society 15, Mpakopoulou st.

GR - 15451, Ν. Psychiko

Tel.: +302107771140

e-mail: grammateia@e-child.gr

Annual subscription

All foreign countries: US$50

350 358 374

CONTENTS

Measles - mumps - rubella vaccination of children with egg allergy

Maria Kavga, Konstantina Tsoni, Stauroula Karipidou, Ioannis Kavaliotis

Health-related quality of life of children with epilepsy and their families: risk factors and comparison with healthy controls

Eleni Bompori, Dimitrios Niakas, Iliada Nakou, Antigoni Siamopoulou-Mavridou, Meropi Tzoufi

CASE REPORTS

2q31.1 chromosomal deletion: A case report and literature review

Kaloumenou Irene, Karachaliou Fotini, Vlachopapadopoulou Elpis, Voudris Kon/ nos, Fotinou Aspasia, Michalacos Stefanos

www.ped-congress.gr

Dimitrios Rallis

First Department of Pediatrics of University of Athens, Children’s Hospital “Agia Sophia”, Athens

Eleni Mylona

Paraskevi Karagianni

Christos Tsakalidis

Second Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, Hospital “Papageorgiou”, Thessaloniki Δημήτριος

Recommended standards for spatial and functional organization of the Neonatal Intensive Care Units

Dimitrios Rallis1, Eleni Mylona2, Paraskevi Karagianni2, Christos Tsakalidis2

Background: Neonatal intensive care units (NICU) represent hospital departments with special standards. In order to maximize the healthcare provision of NICU’s, specific recommendations have been proposed and should be fulfilled, regarding the minimum area of the unit, the construction materials, the lighting, acoustic environment, temperature and humidity.

Methods and Results: The Report of the Eighth Consensus Conference on Newborn intensive care unit Design was recently published, where it is determined the minimum space that is required for the proper operation of the Unit. Moreover, it is determined the need of isolation around each incubator, as well as the requirements that must be met for single rooms in order to provide the optimal support of the family of the newborn.

11527,

6945898078

e-mail: dimitrisrallis@hotmail. com

Correspondence

Dimitrios Rallis

Thivon and Papadiamantopoulou, 11527, Athens

Tel: +30 6945898078

e-mail: dimitrisrallis@hotmail. com

AAP = AmericanAcademyofPeadiatrics

ACOG = AmericanCollegeofObstetriciansandGynecologists

CRI = ColorRenderingIndex

FSCI10 = FullSpectrumColorIndex

GAI = GamutAreaIndex

nCPAP = nasal continuous positive airway pressure

Particular attention is given to the operating conditions of the neonatal intensive care unit, in terms of temperature and humidity, which must be within specified values, as well as the noise and lighting, which should not exceed certain limits. Finally, the specifications of hand washing stations, construction materials and the storage facility that must be provided to the unit are thoroughly recorded.

The functional standards that are minimum required are also recorded, such as the proper ratio of nursing staff-neonates, the type of care for each neonate, and finally the minimum equipment requiredfor each NICU.

Conclusion:The purpose of this study is to capture the recommended instructions for neonatal intensive care units adapted by the needs of the Greek healthcare system.

Keywords: Neonatal Intensive Care Unit, spatial organization, guidelines

(American Academy of Peadiatrics-AAP),

(American College of Obstetricians and Gynecologists-ACOG)

(CRI-Color Rendering Index)

(FSCI10-Full Spectrum Color Index)

Gamut Area Index)

≤ 80(10-15).

1. Ryan GM, Jr. Toward improving the outcome of pregnancy Recommendations for the regional development of perinatal health services. Obstet Gynecol. 1975;46:375384.

2. Oh W, Merenstein G. Fourth edition of the Guidelines for Perinatal Care: summary of changes. Pediatrics. 1997;100:1021-1022.

3. Guidelines for health care professionals supporting families experiencing a perinatal loss. Paediatr Child Health. 2001;6:469-490.

4. White RD. Recommended standards for the newborn ICU. J Perinatol. 2007;27 Suppl 2:S4-S19.

5. White RD, Smith JA, Shepley MM. Recommended standards for newborn ICU design, eighth edition. J Perinatol. 2013;33 Suppl 1:S2-16.

6. Ulrich RS. Effects of interior design on wellness: theory and recent scientific research. J Health Care Inter Des. 1991;3:97-109.

7. Gray L, Philbin MK. Effects of the neonatal intensive care unit on auditory attention and distraction. Clin Perinatol. 2004;31:243-260.

8. Philbin MK, Robertson A, Hall JW, 3rd. Recommended permissible noise criteria for occupied, newly constructed or renovated hospital nurseries. The Sound Study Group of the National Resource Center. J Perinatol. 1999;19:559-563.

9. Evans JB, Philbin MK. Facility and operations planning for quiet hospital nurseries. J Perinatol. 2000;20:S105-112.

10. Recommended Practice for Lighting for Hospitals and Health Care Facilities. New York2006. 29-06.

11. Freyssinier JP, Rea MS, Bullough JD. Brightness contrast perception in the mesopic region. Ophthalmic Physiol Opt. 2006;26:300-312.

12 Glickman G, Byrne B, Pineda C, Hauck WW, Brainard GC. Light therapy for seasonal affective disorder with blue narrow-band light-emitting diodes (LEDs). Biol Psychiatry. 2006;59:502-507.

13. Council UGB. LEED 2009 for Healthcare, New Construction and major Renovations. Washington DC2011.

14. DiLaura DL, Houser KW, Mistrick RG, Steffy GR. The Lighting Handbook, 10th Edition. New York2011.

15. Weiss M. Evidence-based practice, LEAN, LEED, and various accreditation processes all require the effective use of metrics to drive assessment, analysis, planning, implementation, and outcomes in healthcare organizations. HERD. 2011;4:142-143.

16. Rivkees SA. Emergence and influences of circadian rhythmicity in infants. Clin Perinatol. 2004;31:217-228.

17. Bullough JD, Sweater Hickcox K, T.R. K, N. N. Effects of flicker characteristics from solid-state lighting on detection, acceptability and comfort. Lighting Research technology 2011;43:337-348.

18. Anderson RL, Mackel DC, Stoler BS, Mallison GF. Carpeting in hospitals: an epidemiological evaluation. J Clin Microbiol. 1982;15:408-415.

19. NFPA 99: Health Care Facilities Code, 2012 Edition. Quincy, MA2012.

20. Parmanum J, Field D, Rennie J, Steer P. National census of availability of neonatal intensive care. British Association for Perinatal Medicine. BMJ. 2000;321:727-729.

21. Tucker J. Patient volume, staffing, and workload in relation to risk-adjusted outcomes in a random stratified sample of UK neonatal intensive care units: a prospective evaluation. Lancet. 2002;359:99-107.

22. Williams S, Whelan A, Weindling AM, Cooke RW. Nursing staff requirements for neonatal intensive care. Arch Dis Child. 1993;68:534-538.

Abstract

Alexandros Makis

Assistant Professor of Pediatrics/Pediatric Hematology

Nikolaos Chaliasos

Associate Professor of Pediatrics

Antigone Siamopoulou

Professor of Pediatrics

Child Health Department, University of Ioannina Medical School Αλέξανδρος

Practical approach of marked and persistent eosinophil-

ia in children

The increased of the number of eosinophils in the peripheral blood is a finding in numerous disease processes due to the involvement of eosinophils in many biological mechanisms such as tissue homeostasis, defense against microorganisms, regulation of immune reaction and activation of mastocytes. In every-day clinical practice we mostly concern about marked and persistent hypereosinophilia(>1.500/ mm3)because of the potential risk of tissue damage caused by the eosinophil-derived substances. Furthermore, hypereosinophilia can be the manifestation of a severe disease that needs prompt treatment. Depending on the involved pathophysiologic pathway eosinophilia is classified in two categories: (a) reactive (non-clonal)eosinophilia, which is caused by cytokine-mediated (mostly interleukin-5) increased differentiation and survival of eosinophilsand (b) clonal eosinophilia, where mutation-mediated clonal expansion of eosinophils exists. Thehypereosinophilicsyndromeis the situation defined as persistent eosinophilia (>1.500/mm3) for which no underlying cause can befound, for more than 6 months, associated with signs of organ involvementanddysfunction.

The present review will focus on the approach of hypereosinophilia in children with emphasis on the recent knowledge about the pathogenesis, classification and treatment of hypereosinophilic syndrome.

Keywords: hypereosinophilia, hypereosinophilicsyndrome

Αλληλογραφία Αλέξανδρος Μάκης

Ιωαννίνων ΤΘ 1187, 45110, Ιωάννινα

Τηλ: 2651007529

Fax: 2651007032

e-mail: amakis@cc.uoi.gr

Correspondence

Alexandros Makis

University of Ioannina Medical School

P.O. Box 1187, GR-45110 Ioannina, Greece

Tel: +30 2651007529

Fax: +30 2651007032

e-mail: amakis@cc.uoi.gr

CD- = cluster of differentiation-

DRESS = drug reactions with eosinophilia and systemic symptoms

ECP = ηωσινοφιλική

EDN = ηωσινοφιλική

EPO = ηωσινοφιλική υπεροξειδάση

FGFR1 = fibroblast growth factor receptor 1

FIP1L1 = Fip1-like-1

FISH = fluorescent in situ hybridization

GM-CSF = αυξητικός παράγοντας των κοκκιοκυττάρωνμακροφάγων

IL- = Interleukin-, ιντερλευκίνηIFN-γ = ιντερφερόνη-γ

MBP = μείζων βασική πρωτεΐνη

PCR = polymerase chain reaction

PDGFRA = platelet derived growth factor alpha

PDGFRB = platelet-derived growth factor receptor-beta

TNF-a = tumor necrosis factor-α,

ECP, EPO, EDN,

Dientamoebafragilis

Ascarislubricoides

Ancylostomaduodenale

Enterobiusvermicularis (οξυουρίαση)

Trichinellaspiralis

Echinococcusgranulosus (ρήξη κύστης)

Toxocaracanis

Μυκητιασικές λοιμώξεις

κοκκιδιομύκωση

Αλλεργικά ή ατοπικά νοσήματα αντίδραση υπερευαισθησίας σε φάρμακα

Wiskott-Aldrich)

νόσος

Churg-Strauss

ν. Wegener

σαρκοείδωση

Dientamoeba fragilis, Ascaris lubricoides, Ancylostoma duodenale, Enterobius vermicularis (οξυουρίαση)

lamblia, Entamoeba histolyti-

6.

ή μυελοδυσπλασίας, παρουσία άωρων μορφών ή βλαστών Ηπατοσπληνομεγαλία

Μυελόγραμμα, ΟΜΒ Κυτταρομετρία ροής Καρυοτυπικός έλεγχος Κυτταρογενετική ανάλυση Μοριακός έλεγχος BCR/ABL, JAK, c-kit

Ειδική θεραπεία

Φάρμακα – Διακοπή; Ταξίδια, συνήθειες Παράγοντες κινδύνου για κακοήθεια Έλεγχος για παράσιτα Ορολογικός, παρασιτολογικές κοπράνων IgE, ανοσολογικός Τροπονίνη ΗΚΓ, ECHO-MRI καρδιάς C/T θώρακος/κοιλίας Βιοψία οργάνων

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18. Klion AD, Bochner BS, Gleich GJet al. The Hypereosinophilic Syndromes Working Group. Approaches to the treatment of hypereosinophilic syndromes: a workshop summary report. J Allergy ClinImmunol. 2006;117:1292-302.

19. vanGrotel M, de Hoog M, de Krijger RR, Beverloo HB, van den Heuvel-EibrinkMM. Hypereosinophilic syndrome in children. Leuk Res. 2012;36:1249-54

20. Nutman TB. Evaluation and differential diagnosis of marked, persistent eosinophilia. Immunol Allergy Clin North Am. 2007;27:529-49

21. Katz HT, Haque SJ, Hsieh FH. Pediatric hypereosinophilic syndrome (HES) differs from adult HES. J Pediatr. 2005;14:134-6

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23. Montano-Almendras CP, Essaghir A, Schoemans H et al. ETV6-PDGFRB and FIP1L1-PDGFRA stimulate human hematopoietic progenitor cell proliferation and differentiation into eosinophils: the role of nuclear factor-κB. Haematologica. 2012;97:1064-72.

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Abstract

Alexandros Makis

Assistant Professor of Pediatrics/Pediatric Hematology

Antigone Siamopoulou Professor of Pediatrics Child Health Department, University of Ioannina Medical School

Hematological manifestations in systemic autoimmune diseases of childhood

In systemic autoimmune disorders the chronic inflammatory process and the action of autoantibodies cause damage in many organs, including the hemopoietic system. The homeostasis of hemopoietic system is controlled by a complex network of cellular and humoral factors, which is deregulated in systemic autoimmune diseases. The hematological manifestations are frequent at diagnosis as well as during the course of these diseases and have a significant impact on quality on life, morbidity, complications and prognosis. All the hemopoietic lines are affected as well as blood clotting and iron bioavailability. Moreover, an increased frequency of hematologic malignancies, mainly lymphoproliferative disorders, has been observed in these disorders, mainly in juvenile sysytemic arthritis and systemic lupus erythematosus. Although the reasons remain uncertain, it is believed that both chronic immunologic activation and treatment with disease-modifying antirheumatic drugs play a role in the malignant transformation. In this paper, the main hematologic manifestations of the most frequent childhood systemic autoimmune diseases are reviewed and discussed.

Key words: Systemic autoimmune diseases, hematological manifestations, hematological malignancies

Αλληλογραφία

Ιωαννίνων ΤΘ 1187, 45110, Ιωάννινα

Τηλ: 2651007529

Fax: 2651007032

e-mail: amakis@cc.uoi.gr

Correspondence

Alexandros Makis

University of Ioannina Medical School

P.O. Box 1187, GR-45110 Ioannina, Greece

Tel: +30 2651007529

Fax: +30 2651007032

e-mail: amakis@cc.uoi.gr

Συντομογραφίες

anti-U1-RNP = anti -U1 ribonucleoprotein

CD- = cluster of differentiation-

HLA-DR4 = human leukocyte antigen-DR4

IFN-γ = interferon-gamma,

IL- = nterleukin-,

MCV = mean corpuscular vol-

MCH = mean corpuscular hemoglobin,

TNF-α = tumor necrosis factoralpha

Sjögren (98).

(99, 100).

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Ζωή Δωροθέα Πανά MD, MSc, PhD

Αθανάσιος Τραγιαννίδης MD, PhD

Θεοδότης Παπαγεωργίου MD, PhD

Εμμανουήλ Χατζηπαντελής MD, PhD

Φανή Αθανασιάδου MD, PhD

Ρηγίνη

MSc, PhD

Θεσσαλονίκης (ΑΠΘ)

Ζωή Δωροθέα Πανά MD, MSc, PhD

Χαράλαμπος Ανταχόπουλος MD, PhD

Εμμανουήλ Ροηλίδης MD, PhD

Γ’ Πανεπιστημιακή Παιδιατρική

Κλινική, Γενικό Νοσοκομείο Ιπποκράτειο, Θεσσαλονίκη

Fekri Samarah PhD

Νόρμα Βαβάτση Χριστάκη MD, PhD

Εργαστήριο Βιολογικής Χημείας, Τμήμα Ιατρικής, Αριστοτέλειο

Ευαγγελία Φαρμάκη MD,

Ζωή Δωροθέα Πανά1,3 MD, MSc, PhD, Ρηγίνη Πάπη2 MSc, PhD, Αθανάσιος Τραγιαννίδης1 MD, PhD, Χαράλαμπος Ανταχόπουλος3 MD, PhD, Θεοδότης Παπαγεωργίου1 MD, PhD, Fekri Samarah4 PhD, Νόρμα Βαβάτση Χριστάκη4 MD, PhD, Ευαγγελία Φαρμάκη5 MD, PhD, Δημήτριος Κυριακίδης2 PhD, Εμμανουήλ Χατζηπαντελής1 MD, PhD, Εμμανουήλ

MD, PhD,

1 MD, PhD

Abstract

Zoe Dorothea Pana MD, MSc, PhD

Theodotis Papageorgiou MD, PhD

Emmanouil Hatzipantelis MD, PhD

Fani Athanassiadou MD, PhD 2nd Pediatric Department, AHEPA General Hospital, Thessaloniki

Rigini Papi MSc, PhD

Dimitrios Kiriakidis PhD Laboratory of Biochemistry, Chemistry Department, Aristotle University of Thessaloniki

Zoe Dorothea Pana MD, MSc, PhD

Charalampos Antachopoulos MD, PhD

Emmanuel Roilides MD, PhD 3rd Pediatric Department, Hippokration General Hospital, Thessaloniki

Fekri Samarah PhD

Norma Vavatsi Christaki MD, PhD Department of Biochemistry, School of Medicine, Aristotle University of Thessaloniki

Evagelia Farmaki MD, PhD 1st Pediatric Department, Hippokration General Hospital, Thessaloniki

Association between ficolin 2 polymorphisms and bacterial infections in children with acute lymphoblastic

leukemia

Zoe Dorothea Pana1,3 MD, MSc, PhD, Rigini Papi2 MSc, PhD, Athanasios Tragiannidis1 MD, PhD, Charalampos Antachopoulos3 MD, PhD, Theodotis Papageorgiou1 MD, PhD, Fekri Samarah4 PhD, Norma Vavatsi Christaki4 MD, PhD, Evagelia Farmaki5 MD, PhD, Dimitrios Kiriakidis2 PhD, Emmanouil Hatzipantelis1 MD, PhD, Emmanuel Roilides3 MD, PhD, Fani Athanassiadou1 MD, PhD

Objectives: Ficolin 2 (FCN2) gene polymorphisms have been proposed as genetic variants that could impact the infection’s risk in leukemia patients. We identified FCN2 polymorphisms and FCN2 haplotypes in a homogeneous cohort of children with newly diagnosed B acute lymphoblastic leukemia (B-ALL) and correlated them with the frequency and duration of febrile neutropenic (FN) episodes as well as with the frequency of bacterial infections during induction chemotherapy.

Material & Methods: FCN2 polymorphisms for the promoter regions -986, -602, -557, -64, -4 and exon 8 regions +6359, +6424 were determined with polymerase chain reaction in children with Β-ALL. FCN2 haplotypes were determined by genesequencing and the results were aligned with “BLAST”/“Multialigh” software.

Results: Forty-four children with B-ALL (median age 4.3y, 65.9% males) suffered from 142 FN episodes and 92 bacterial infections (40.2% Gram positive and 59.8% Gram negative). FCN2 low-risk haplotypes were detected in 38.2%, medium-risk in 44.1% and high-risk in 17.6%. FCN2 haplotype was not associated with the frequency of FN episodes. FCN2 medium/high-risk haplotype was associated with prolonged duration of FN and increased frequency of bacterial infections.

Conclusions: FCN2 haplotype is associated with the duration of FN, but not with the frequency of FN episodes. In conclusion, FCN2 gene polymorphisms are genetic risk factors for infections in children with ALL. Further analysis in a larger population could confirm their prognostic role in determining the individualized risk for infections.

Keywords: FCN2 polymorphisms, haplotype, prognostic markers, leukemia

31, 55133,

2310433106

e-mail: panazoi@gmail.com

Correspondence

Zoe Dorothea Pana

Aristidou 31, 55133, Thessaloniki

τηλ.: +30 2310 433 106

e-mail: panazoi@gmail.com

Receptors, PRRs) [1].

Gly117Ser, Thr137Met, Arg147Gln, Arg157Gln, Ala185Thr, Thr236Met, Ala258Ser και Ala264fs) [12].

F

R

0.2

F

R

+6359 F

+6359 R

+6224 F

+6224 R

F

R

(-557), (-602)

(+6359), (+6424).

rs3124952

rs3124952

rs31224953/ rs3811140

rs31224953/ rs3811140

rs17514136/ rs28969369

rs17514136 /rs28969369

rs17549193

rs17549193

rs7851696

rs7851696

5’TCATAGTCTCAGGACCACA3’

5’AGCCAGGTTAGAGACAGA3’

5’CTCTCATCCTCCCTACAGG3’

5’GTTTGCTAAAGATGTTCTGCTTC3’

5’GCAAGTCAGCCTGTTCCCT3’

5’AAGCCACCAATCACGAAG3’

5’GCACTTCTTGGATTGTGCAGT3’

5’CTGTCTGTAATGATGTTACTGC3’

5’GCACTTCTTGGATTGTGCAGT3’

5’CCTTCATCTCTTGACACCTTTGT3’

(QIAGEN).

Staphylococcus epidermidis (18/37), ο Staphylococcus aureus (7/37) και

Enterococcus faecium (4/37) (Πίνακας 02).

Escherichia coli (19/55), η Klebsiella pneumoniae (13/55) και η Pseudomonas aeruginosa (12/55) (Πίνακας 02).

Staphylococcus epidermidis

Staphylococcus hominis

Staphylococcus aureus

Staphylococcus hemolyticus

Enterococcus faecium

Streptococcus viridans

(3.2%)

(4.3%) 2/92 (2.2%)

Escherichia coli

Pseudomonas aeruginosa

Pseudomonas fluroscens

Klebsiella pneumoniae

Akinetobacter baumanii

Enterobacter cloacae

Corynobacterium

Proteas mirabilis

Providencia rustiganii 19/92 (20.6%)

(13%)

(14%)

(1.%)

(2.2%)

(1.1%)

(5.5%)

(1.1%)

3.5 (±1.6) 3.48 (±1.8) 3.2 (±1.4) 3.5 (±1.8) 2.8 (±1.9) 2.95 (±1.4) 4.2

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38. El-Mahallawy HA, El-Wakil M, Moneer MM, et al. Antibiotic resistance is associated with longer bacteremic episodes and worse outcome in febrile neutropenic children with cancer. Pediatric blood & cancer 2011; 57:283-288.

39.Schlapbach LJ, Aebi C, Hansen AG, et al. H-ficolin serum concentration and susceptibility to fever and neutropenia in paediatric cancer patients. Clinical and experimental immunology 2009; 157:83-89.

40. Schlapbach LJ, Thiel S, Aebi C, et al. M-ficolin in children with cancer. Immunobiology 2010; 216:633-638.

Ανοσολογικό και

Κέντρο Αναφοράς, “Iπποκράτειο” ΓΝ Θεσσαλονίκης

Γεώργιος

Increased levels of hmgb1 protein and low expression of immune-inhibitory receptor lair-1 on ths plasmatoid dendritic cells in patients with juvenile systemic lupus erythematus. Νew therapeutic targets?

Florence Kanakoudi-Tsakalidou, Evaggelia Farmaki, Vasiliki Tzimouli, Anna Taparkou, George Paterakis, Maria Trachana, Polyxeni Pratsidou-Gertsi, Panagiota Nalbanti, Fotis Papachristou

Objective: HMGB1 is a nuclear protein, that can also be released in the extracel-

Παναγιώτα

lular space and can activate plasmatoid dendritic cells (pDCs), resulting in the massive production of IFN-α, an important player in the pathogenesis of SLE. Normally, the immune-inhibitory receptor LAIR-1 is highly expressed by pDCs and its crosslinking inhibits IFN-α production by activated pDCs. We investigated the simultaneous changes of HMGB 1 and IFN-αlevels in serum and the expression of LAIR-1 on pDCs of jSLE patients in order toexplore their involvement in the disease pathogenesis as well as their correlation with the disease activity and other characteristics. Material - Methods: Totally, 62 blood samples were studied from 26 jSLE patients, aged 8-16 years. 20 healthy subjects of comparable age were included as healthy controls (HC). Serum concentrations of HMGB 1 and IFN-α were assessed ELISA and expression of LAIR-1 on pDCs by five-colour flow cytometry. The disease activity index was assessed by SLEDAI and ECLAM scores.

Results: Mean serum levels of both HMGB 1 and IFN-α were significantly increased in jSLE patients, compared to those of HC, in jSLE patients with active disease (SLEDAI>2, ECLAM>0), with or without nephritis compared to those with inactive disease (SLEDAI≤2, ECLAM=0). Mean serum levels of HMGB 1 were positively correlated with levels of IFN-α and both were positively correlated with the SLEDAI and ECLAM scores. The amount of LAIR -1 expression on pDCs of jSLE patients was significantly lower than that of HC in both active and inactive disease. There was a negative correlation between LAIR-1 expression and ECLAM score.

Conclusions: Our findings indicate that serum HMGB 1 not only represents a potential marker of disease activity but together with the lack of LAIR-1 inhibitory function, may contribute to the sustained inflammatory action of IFN-α in jSLE. Thus, blocking the action of HMGB 1 and its receptorsor enhancing the inhibitory function of LAIR-1 on pDCs should be included in the future immune interventions for controlling this devastating disease.

Florence Kanakoudi-Tsakalidou

MD, PhD, Professor Emeritus in Pediatrics/Immunology, Aristotle University of Thessaloniki, 1st Department of Pediatrics, Pediatric Immunology and Rheumatology Referral Center, “Hippokration” General Hospital Thessaloniki, Greece

Evaggelia Farmaki

MD, PhD, Lecturer in Pediatrics/ Immunology, 1st Department of Pediatrics, Aristotle University of Thessaloniki, Pediatric Immunology and Rheumatology Referral Center, “Hippokration” General Hospital Thessaloniki, Greece

Vasiliki Tzimouli

PhD, Biologist, 1st Department of Pediatrics, Aristotle University of Thessaloniki, Pediatric Immunology and Rheumatology Referral Center, “Hippokration” General Hospital Thessaloniki, Greece

Anna Taparkou, PhD

Biologist, Scientific Collaborator, 1st Department of Pediatrics, Aristotle University of Thessaloniki, Pediatric Immunology and Rheumatology Referral Center, “Hippokration” General Hospital Thessaloniki, Greece

George Paterakis

MD, PhD, Haematologist, Head of the Immunology Laboratory, “G. Gennimatas” General Hospital of Athens, Greece

Maria Trachana

MD, PhD, Assistant Professor in Pediatrics/Pediatric Rheumatology, 1st Department of Pediatrics, Aristotle University of Thessaloniki, Pediatric Immunology and Rheumatology Referral Center, “Hippokration” General Hospital Thessaloniki, Greece

Polyxeni Pratsidou-Gertsi

PhD, Pediatrician, Scientific Collaborator, st Department of Pediatrics, Aristotle University of Thessaloniki, Pediatric Immunology and Rheumatology Referral Center, “Hippokration” General Hospital Thessaloniki, Greece

Panagiota Nalbanti

Pediatrician, Scientific Collaborator, 1st Department of Pediatrics, Aristotle University of Thessaloniki, Pediatric Immunology and Rheumatology Referral Center, “Hippokration” General Hospital Thessaloniki, Greece

Fotis Papachristou

MD, PhD, Professor in Pediatrics/ Pediatric Nephrology, Head of 1st Department of Pediatrics, Aristotle University of Thessaloniki, “Hippokration” General Hospital Thessaloniki, Greece

C4, ANA, dsDNA, αnti-Sm, anti-Rο,anti-La, anti-φωσφολιπιδικά και

2, 546 43

Τηλ.: 2310 839291

e-mail: flkan@auth.gr

Correspondence

Florence Kanakoudi-Tsakalidou

Μ. Mpotsari 2, 546 43 Thessaloniki

Τel.: +30 2310 839291

e-mail: flkan@auth.gr

(Beckman Coulter).

BDCA2-FITC (κλώνος AC144, Milteny iBiotec, Bergish Gladbach, Germany),

LAIR-1 (CD305)-ΡΕ (κλώνος 342219, R&Dsystems, Mineapolis, MN), CD45-ECD (κλώνος J33 BeckmanCoulter, Immunotech, Marseille, France), CD11b-PC5 (κλώνος Bear1, BeckmanCoulter, Immunotech, Marseille, France), CD123- PC7 (κλώνος 6H6, BioLegend, London, Unitedkingdom).

2.5. Μέτρηση

(BNProSpec, Dade:Behring-Siemens, Marburg, Germany).

2.6.

son (Pearson correlation coefficient,

Spearman (Spearman’s r-test).

p<0,05.

Ηλικία [έτη, διάμεση, (εύρος)] Φύλο (αγόρια/κορίτσια)

Διάρκεια νόσου [μήνες, διάμεση, (εύρος)]

Κύριες κλινικές εκδηλώσεις (n)

νεφρική

εκδηλώσεις

C3(g/l), διάμεση (εύρος)

C4(g/l), διάμεση (εύρος)

IgG(g/l), διάμεση (εύρος)

IgM(g/l), διάμεση (εύρος)

IgA(g/l), διάμεση (εύρος)

anti-ANA αντισώματα (τίτλος) median (range)

anti-dsDNA

(0.2-1.21) 0. 07 (0.016-0.34) 14.3 (5.9-28) 0.8 (0.21-2.06) 1.3 (0.87-3.48) 1/360 (1/40-1/1280) 1/80 (1/40 -1/1280) 1.09 (0.46-1.83) 0.15 (0.05-0.43) 13 (4.3-25.4) 0.97 (0.09-3.67) 2.1 (0.06-4.73 1/160 (1/40-1/1280) 1/40 (1/40 -1/1280)

3.74 ng/mlvs 13.63 ±2.88 ng/ml, p= 0.0419),

7.68 ng/mlvs 20.2

(131.60 ± 15.70 ng/mlvs 72.6 ± 8.63 ng/ml, p= 0.0012).

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Εvaluation of therapeutic treatment depending on the severity of bronchiolitis

Panagiota Zikidou, Athanasia Chainoglou, Kyriaki Karafyllidou, Banou Karachousein Chasan, Lampros Simoglou, Aise Chatzi Serif Amet, Maria Valkanou, Maria Topalidou, Eleni Kifnidou, Anna Pantazi

Background: Bronchiolitis is a common disease of infancy, which often requires hospitalization.

Objective: The aim of the retrospective study was to evaluate the therapeutic treatment depending on the severity of the disease.

Material: 377 patients under the age of 2 years who were hospitalized during the last five years.

Methods: In addition to demographic data, the clinical features, the treatment and the duration of hospitalization were recorded for each patient. We divided the pa-

Panagiota Zikidou

Athanasia Chainoglou

Kyriaki Karafyllidou

Banou Karachousein Chasan, Lampros Simoglou

Aise Chatzi Serif Amet

Maria Valkanou

Maria Topalidou

Eleni Kifnidou

Anna Pantazi

General Hospital of Komotini, Komotini

tients into 3 groups according to the severity and we studied the treatment and the outcome.

Results: In all groups the boys were more. Of the patients with severe bronchiolitis, infants <6 months were more (42%). Of the hospitalized, 30% of them had severe clinical features. The gypsies were 55%. Continuous supply of oxygen was applied to 80% of patients with severe bronchiolitis. In severe disease, inhaled β2bronchodilators (93%) were mainly used. Nebulized adrenaline was used in patients under the age of 6 months (60%). Inhaled corticosteroids (20%) were used in mild bronchiolitis. In severe cases, intravenous corticosteroids were administered to 81%. In severe bronchiolitis, 90% of patients received antibiotic treatment. 40% of patients with mild bronchiolitis and in 20% of patients with moderate bronchiolitis became worse. Among patients with severe bronchiolitis, 45% of them were improved within 48 hours. 44% of patients required hospitalization longer than 5 days.

Conclusions: The treatment of bronchiolitis depends on age and severity. In severe bronchiolitis, immediate and systematic treatment ensures rapid improvement

Keywords: bronchiolitis, severity, treatment

69100,

6932643555

e-mail: apanta1500@gmail.com

Correspondence

Anna Pantazi-Chatzikonstantinou

Pediatric Clinic, General Hospital of Komotini

P.C.: 69100, Komotini

Τel: 6+30 932643555

e-mail: apanta1500@gmail.com

RSV = Respiratory Syncytial

SPO2 = Oxygen Saturation

CRP = C-reactive Protein

HR = Hazard Ratio

CI = Confidence Interval

1. Wright M, Mullett CJ, Piedimonte G. Pharmacological management of acute bronchiolitis. Therapeutics and Clinical Risk Management 2008;4(5): 895–903.

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7.

8. AAP Subcommittee on the Diagnosis and Management of Bronchiolitis. Diagnosis and management of bronchiolitis. Pediatrics 2006;118:1774–1793.

9. Carroll ΚΝ, Gebretsadik T, Griffin MR, Dupont WD, Mitchel EF, Wu P et al. Maternal Asthma and Maternal Smoking Are Associated With Increased Risk of Bronchiolitis During Infancy. Pediatrics 2007;119:1104-1112.

10. Bradley JP, Bacharier LB, Bonfiglio J, Schechtman KB, Strunk R, Storch G et al. Severity of Respiratory Syncytial Virus Bronchiolitis Is Affected by Cigarette Smoke Exposure and Atopy. Pediatrics 2005;115:e7.

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16 Vogel AM, Lennon DR, Harding JE, Pinnock RE, Graham DA, Grimwood K et al. Variations in bronchiolitis management between five New Zealand hospitals: can we do better?. J Paediatr Child Health 2003;39:40–45.

CharaTzavara

, S. Wójcik2, K. Makaruk2, CharaTzavara1, the EU NET ADB Consortium, D. Greydanus3, C. Richardson4

S. Wójcik

K. Makaruk

Nobody’s Children Foundation (NCF), Poland,

D. Greydanus

Department of Pediatrics, Western Michigan University School of Medicine, USA

C. Richardson Πάντειο

Abstract

Cyberbullying among adolescents in seven european countries: a cross-sectional study

Artemis Tsitsika1*, Mari Janikian1, Eleni Tzavela1, Vasiliki Dimitrakopoulou1, Ourania Tsouridi1, S. Wójcik2, K. Makaruk2, Chara Tzavara1, the EU NET ADB Consortium, D. Greydanus3, C. Richardson4

Background: Cyberbullying and victimization are important adolescent health issues. The study aimed to investigate the prevalence of cyberbullying and associated emotional and behavioral problems among adolescents in seven European countries.

Methods: A cross-sectional school-based study (N=13,284; F/M: 7000/6284; mean

Artemis Tsitsika1*

Mari Janikian1

Eleni Tzavela1

Vasiliki Dimitrakopoulou1

Ourania Tsouridi1

Chara Tzavara1

Adolescent Health Unit (A.H.U.), Second University Department of Pediatrics, “P. & A. Kyriakou”

Children’s Hospital, National and Kapodistrian University of Athens School of Medicine, Athens, Greece

S. Wójcik2

K. Makaruk2

Nobody’s Children Foundation (NCF), Poland

D. Greydanus3

Department of Pediatrics, Western Michigan University School of Medicine, USA

C. Richardson4

Panteion University of Social and Political Sciences, Greece

the EU NET ADB Consortium

age 15.8±0.7) of 14-17 year-old adolescents was conducted in the representative sample of the participating countries (Spain, Poland, Germany, the Netherlands, Romania, Iceland and Greece). The self-completed anonymous questionnaire included questions on cyberbullying and the Youth Self Report.

Results: In total,21.9% of adolescents reported cyberbullying in the past 12 months. Cyberbullying reports were higher among girls than boys (24.1% vs. 21.9%), and among the older adolescents compared to the younger ones (24.2% vs. 20.5%). The prevalence rate of the adolescents that had been bullied online was higher in Romania and Greece (37.3% and 26.8%) and lower in Spain and Iceland (13.3% and 13.5%).

The proportion of the adolescents who had been fairly or very upset by cyberbullying was 53.5% among adolescents who were victims. Cyberbullying was strongly associated with concurrent emotional and behavioral problems.

Conclusions: Overall,cyberbullying was found to be a problem of substantial extent, concerning more than one in five of the studied European adolescents. Action against cyberbullying is crucial while policy planning should be aimed at the prevention of the phenomenon.

Keywords: cyberbullying, adolescence, emotional/ behavioral problems

24,

11527, Γουδί Τηλ. : 2107710824, 213-2009806, 6944-763177

Fax: 210 7774383

e-mail: info@youth-health.gr

Correspondence

Artemis Tsitsika MD PhD 24 Mesogeion Avenue, Goudi 11527, Athens, Greece

Tel: + 30 210 7710824, 213 009806, 6944 763177

Fax: + 30 210 7774383

e-mail: info@youth-health.gr

YSR = YouthSelfReport,Κλίμακα

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2. Livingstone S, Haddon L, Görzig A, Ólafsson K. 2011. Risks and safety on the internet. The perspective of European children. London: LSE.

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4. Kowalski RM, Limber SP. Electronic bullying among middle school students. J Adolesc Health. 2007;41(6 Suppl 1):S22–30.

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7. Williams KR, Guerra NG. Prevalence and predictors of internet bullying. J Adolesc Health. 2007;41(6,Suppl):S14–S21.

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9. Ybarra ML, Boyd D, Korchmaros JD, Oppenheim JK. Defining and measuring cyberbullying within the larger context of bullying victimization. J Adolesc Health. 2012;51(1):53–8.

10. Gradinger P, Strohmeier D, Spiel C. Definition and measurement of cyberbullying. Cyberpsychology. 2010;4:1–14.

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12. Dooley JJ, Pyżalski J, Cross D. Cyberbullying versus face-to-face bullying. Z Psychol. 2009;217(4):182–188.

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Smoking and alcohol use in adolescence: inevitable coexistence?

Magdalini Patseadou1, Assimina Galli-Tsinopoulou1, Malamatenia ArvanitidouVayona2, Georgios Varlamis1, Maria Emporiadou1

Aim: The aim of this study was to register the prevalence of smoking- and alcoholrelated behaviour among students attending high-schools as well as to investigate whether there is an association between the occurrences of this behaviour Material - Methods: An anonymous questionnaire, developed by the Centers of Disease Control and Prevention, USA and adapted to national priorities and characteristics, was administered to 1014 students from a representative sample of 20 high-schools in the prefecture of Thessaloniki (13 public, 3 private and 4 vocational schools). Frequencies of certain smoking- and alcohol-related behaviour were estimated and the logistic regression analysis was used in order to evaluate the prob-

Magdalini Patseadou

Assimina Galli-Tsinopoulou

Georgios Varlamis

Maria Emporiadou

4th Department of Paediatrics, Aristotle University of Thessaloniki

Malamatenia ArvanitidouVayona

Department of Hygiene, Medical School, Aristotle University of Thessaloniki Αλληλογραφία

564 03

2310 991537

e-mail: gallitsin@gmail.com

Correspondence

Assimina Galli-Tsinopoulou

564 03, Thessaloniki

Tel / fax: +30 2310-991537

e-mail: gallitsin@gmail.com

able association of the two behaviours.

Results: The 96.2% of the adolescents answered that they had consumed alcoholic drinks and the 64% had tried cigarette smoking. Alcohol consumption was initiated before the use of cigarettes. In particular, the mean age of alcohol drinking initiation was 13.5 years and of smoking initiation was 15.5 years. The adolescents who had started using alcoholic drinks had greater probability of starting smoking as well (OR=3.6). School was the most frequent place where the two high-risk behaviour were occurring simultaneously (OR=3.7). Excessive use of smoke (>10 cigarettes per day) was significantly associated with excessive alcohol consumption (>5 drinks per day) (OR=5.6). The students who reported drunkenness had lower probability of trying to stop smoking in relation to the students who didn’t drink excessively (OR=0.9).

Conclusions: Both cigarette smoking and alcohol drinking are habits that are adopted in adolescence and may co-exist in the same adolescent.

Keywords: smoking, alcohol consumption, high-risk behaviour, adolescents, highschool

1

2

3-5

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Abstract

Maria Kavga

Konstantina Tsoni

Stauroula Karipidou

Ioannis Kavaliotis

Pediatric Department, Hospital

Measles - mumps - rubella vaccination of children with egg allergy

Konstantina Tsoni, Stauroula Karipidou, Ioannis Kavaliotis

Background: Although, several studies have shown that children with egg allergy can receive the measles-mumps-rubella vaccine safely, this condition still fears parents and doctors who refer them to hospital for vaccination.

Aim: The aim of this study is to review our experience in vaccinating such children in our hospital.

Materials and Method: We studied children who were referred to our department during 19/10/2010-31/3/2013 (29 months) with a known history of egg allergy. Egg allergy was based in clinical features (rushes or previous allergic reaction after egg consumption) or in positive RAST tests, or in elevated IgE. A total of 160 children aged from 2 months to 12 years old were reviewed. Of these children, only 43 had egg allergy history.

Αλληλογραφία Κωνσταντίνα Τσώνη Λαμπράκη 13, 54638,

Τηλ.: 2313308746

e-mail: konstantinatsoni@ hotmail.gr

Correspondence

Konstantina Tsoni 13, G. Lampraki str., 54638 Thessaloniki Tel: +2310437216

e-mail: konstantinatsoni@ hotmail.gr

Results: Out of 160 children, 43 (29 males/14 females), aged from 15 months – 9 years old, were referred to our department from pediatricians for vaccination because of a known history of egg allergy. In 25 from 43 children, the diagnosis of allergy was clinical, 14 children had a positive Rast test and in 4 children diagnosis was based in elevated serum IgE 15/43 (34,88%) were aged from 15 to 18 months –appropriate age for the first dose- 11/43 (25,58%) aged from 19 to 24 months and 17/43 children (39,54%) were 2-9 years old. After the vaccination, no child had an allergic reaction. Only a 16,5 month boy had anxiety and was observed for several hours.

Conclusions: There is no evidence that egg allergy is a contraindication for MMR vaccination. Despite this, a great number of children (65,12%) delays the vaccination because of family’s fear and unawareness. In many cases even the attending pediatrician chooses to delay the vaccination to protect his patient. It is recommended that all children must be vaccinated in the appropriate age in order to obtain better antibodies in their serum.

Keywords: MMR, allergy, egg, vaccine, vaccine

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KIDSCREEN-27, SF-12.

Health-related quality of life of children with epilepsy and their families: risk factors and comparison with healthy controls

Eleni Bompori1, Dimitrios Niakas2, Iliada Nakou1, Antigoni Siamopoulou-Mavridou3, Meropi Tzoufi3

Aims: The evaluation of the health-related quality of life (HRQoL) of children with epilepsy, the disclosure of its determining factors and the comparison with healthy population. Also the evaluation of the HRQoL of the parents of children with epilepsy and the comparison with that of the parents of healthy children.

Materials-Methods: It was investigated 100 children with diagnosed epilepsy, aged

Eleni Bompori

Iliada Nakou

Department of Pediatrics, University Hospital of Ioannina, Ioannina, Greece

Dimitrios Niakas

Faculty of Social Sciences, Hellenic Open University, Patras, Greece

Antigoni Siamopoulou-Mavridou

Meropi Tzoufi

Department of Child Health, Ioannina University School of Medicine, Ioannina, Greece

8-16 years, which were examined in the Child Neurology Department of University Hospital of Ioannina the first trimester of 2012. The control group consisted of 100 healthy age-matched and gender-matched children. Parents of both groups evaluated the HRQoL of their children through the KIDSCREEN-27 questionnaire as well as their own HRQoL through the SF-12 tool.

Results: The HRQoL of children with epilepsy was overall worse than that of healthy children but statistically significant only in the fields of physical well-being (p=0.001) and school environment (p<0.001). Specifically, children with severe epilepsy were the most affected with a statistically significant difference of HRQoL both in the fields “Physical Well-being” (p<0.001) and “School Environment (p<0.0001) as well as in the field “Peers and Social Support” (p=0.044). Further statistical analysis revealed as main risk factors older age, failing to control the seizures, large number of drugs, prolonged treatment duration and comorbid neurological problems. Additionally, parents of children with severe epilepsy and comorbid neurological problems showed statistically significantly worse mental health compared with parents of healthy children (p<0.001).

Conclusions: Epilepsy and particularly severe epilepsy with concomitant neurological problems adversely affect the quality of life of both children and their families.

Keywords: Quality of life, Health-Related Quality of Life, Epilepsy, KIDSCREEN-27, SF-12.

Αλληλογραφία

Δεξαμενής 35-Ανατολή, 45500, Ιωάννινα

Τηλ: 6974565798

e-mail: elenibobori@yahoo.gr

Correspondence

Eleni Bompori

Dexamenis 35 - Anatoli, 45 500, Ioannina

Tel.: +30 6974565798

e-mail: elenibobori@yahoo.gr

(7.87)

(7.57)

(7.75)

-0.14 (-0.61, 0.33)

(8.74)

(8.10)

(10.08)

(7.57)

(7.75)

(-0.22, 0.72) 0.25 (-0.22, 0.72) 0.59 (0.12, 1.07) -0.01 (-0.48, 0.46) -0.56 (-0.86, -0.26)

(-0.55, 0.04)

(-0.55, 0.04)

(-0.60, -0.01)

(-1.15, -0.54)

50.04 (8.38)

50.98 (6.82)

55.79 (8.51)

(9.12)

(-0.08, 0.89)

(-0.03, 0.95)

(-0.03, 0.95)

(0.36, 1.35)

(0.31, 1.29)

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Abstract

Kaloumenou Irene

Karachaliou Fotini

Vlachopapadopoulou Elpis

Michalacos Stefanos

Department of Growth and Development, Children’s Hospital P. & A. Kyriakou, Athens, Greece

Voudris Kon/nos

Department of Neurology, Children’s Hospital P. & A. Kyriakou, Athens, Greece

Fotinou Aspasia

Department of Neurology, Biochemical-Hormone Laboratory, Children’s Hospital P. & A. Kyriakou, Athens, Greece

2q31.1 chromosomal deletion: A case report and literature review

Kaloumenou Irene¹, Karachaliou Fotini¹, Vlachopapadopoulou Elpis¹, Voudris Kon/ nos², Fotinou Aspasia³, Michalacos Stefanos¹

The clinical phenotype of the chromosome 2q31 deletion syndrome consists of a variety of limb anomalies and other skeletal defects. Additionally developmental delay and a variety of internal organ anomalies may be present. We describe a patient with developmental delay, growth retardation, motility disorders, mild tremor upper limb, microcephaly, high arched palate, downslanting palpebral fissures, micrognathia, camptodactyly, clinodactyly, bilateral hypoplastic middle phalanges particularly of the fifth finders to the upper and lower extremities and low degree of syndactyly. During the endocrinological evaluation of our patient we found Growth Hormone Deficiency. We describe this case because this syndrome is rare and it combines short stature and severe developmental delay.

Keywords: 2q31.1 microdeletion, short stature, limp anomalies, HOXD cluster

Αλληλογραφία

Καλουμένου Ειρήνη

Tηλ.: 6979671174

e-mail: kaloumenou@gmail. com

Correspondence

Irene Kaloumenou

Tel: +30 6979671174

e-mail: kaloumenou@gmail. com

έλεγχος TSH: 2.33 μIU/ml, Τ4: 7.61 μg/dl, Anti-TPO: 2.7 IU/ml, AntiTG: <5 IU/ml (<100), Κορτιζόλη (πρωί): 8.61 μg/dl, FSH: 5.15 mIU/ml, LH: <0.1 mIU/ ml, PRL: 390 μIU/ml, 17α-ΟΗ Προγεστερόνη: 0.270 ng/ml, DHEA-S: 0.06 μg/ml, ΙGF-1: 78.6 ng/ml, PTH: 68.7 pg/ml, 25OH Vit D: 17 ng/ml (11-43), αντιγλοιανδινικά αντισώματα:

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