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Οδηγίες
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Iδιοκτήτης
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256
Paediatriki
Volume 78 | Number 2 | April - May - June 2015
Trimonthly publication of the Greek Paediatric Society
154 SHORT ABSTRACTS
158
STATE OF THE ART - REVIEW ARTICLE
Revision of the jones criteria for the diagnosis of acute rheumatic fever. The contribution of the widespread use of echocardiography
Maria Gogou, Anastasia Keivanidou, Andreas Giannopoulos
166
REVIEW ARTICLES
Genetic predisposition and personalized nutritional intervention for childhood obesity
Kalliopi Gkouskou, Anastasia Markaki, Theodosios Theodosiou, Aristides Eliopoulos
176
Sexualization of children and adolescents
A. Tsitsika, V. Dimitrakopoulou
188 Growing pains
Maria N. Vasilopoulou, Maria Tsolia
202
Ciliopathies: The central role of primary cilia in a wide disease spectrum
Stavroula Psoni, Helena Fryssira
220
ORIGINAL ARTICLES
Prevalence of simple and abdominal obesity among 15 year old adolescents in Greece: results from the ADONUT study
Maria Grammatikopoulou, Dimitrios Poulimeneas, Konstantina Gerothanasi, Efstratios Kiranas, Maria Tsigga & ADONUT Study Group
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P. Panagiotopoulou-Gartagani
A. Papadopoulou
V. Papaevagelou
A. Papathanassiou
A. Siamopoulou-Mavridou
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Manuscript submission
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234
Early changes of amino acids in critical ill children dependent on disease severity
Theonymfi Tavladaki, Anna Maria Spanaki, Helen Dimitriou, EvaggelosPapakonstantinou, George Briassoulis
246
Networks of primary care and welfare for deaf primary school children. Parents’ satisfaction
Bredaki Maria, Ktena Danai, Barbouni Anastasia, Kornarou Eleni
256
Νο Relapse And Effective Prevention Of Complications of Secondary Hemosiderosis with Iron Chelation With Deferasirox In Childhood Malignancies
Μicaela Nicolaou, Yiouli P. Ktena, Archontis Zampogiannis, Anastasia Athanasiadou, Spiros Vlahopoulos, George Lambrou, Maria Adamaki, Maria Moschovi
266
Α prospective evaluation new scoring system for diagnosis of acute appendicitis in children
Adelais Tzortzopoulou, Panagiota Giamarelou, Aikaterini Michail-Strantzia, Alexandros Passalidis
ΒΡΑΧΕΙΕΣ
SHORT ABSTRACTS

Παραπομπές:
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Correspondence
Μaria Gogou
Dimitriou Nika 44, 60100, Κaterini
e-mail: mariaangogou@ gmail.com
Revision of the jones criteria for the diagnosis of acute rheumatic fever. The contribution of the widespread use of echocardiography
Maria Gogou, Anastasia Keivanidou, Andreas Giannopoulos
Abstract
Although rheumatic fever has declined in incidence over the past decades, this disease remains an important cause of acquired cardiovascular morbidity in childhood and presents a very disproportionate geographic distribution. Besides, the increasing use of cardiac ultrasound has revealed subclinical carditis in many cases of children diagnosed with rheumatic fever without clinical findings of carditis. On this basis, in 2015 the American Heart Association’s Council on Cardiovascular Disease in the Young and its Rheumatic Fever, Endocarditis and Kawasaki Disease Committee revised the classical Jones criteria for the diagnosis of Rheumatic Fever defining populations as low-risk or moderate-/high-risk and including Doppler echocardiography findings of carditis in major criteria.
Keywords: rheumatic fever, revised criteria, subclinical carditis
Maria Gogou
Anastasia Keivanidou
Andreas Giannopoulos
Unit for Pediatric Cardiology, 2nd Department of Pediatrics, Aristotle University of Thessaloniki, University General Hospital of Thessaloniki AHEPA
Πίνακας
2.
3.
1. Seckeler MD, Hoke TR. The worldwide epidemiology of acute rheumatic fever and rheumatic heart disease. Clin Epidemiol 2011, 3:67-84
2. Ferrieri P; Jones Criteria Working Group. Proceedings of the Jones Criteria workshop. Circulation 2002, 106:2521-3
3. Dajani AS, Ayoub E, Bierman FZ, Bisno AL, Denny FW, Durack DT, et al. Special Writing Group of the Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease of the Council on Cardiovascular Disease in the Young of the American Heart Association. Guidelines for the diagnosis of rheumatic fever: Jones criteria, 1992 update [published correction appears in JAMA. 1993 ,269:476]. JAMA. 1992, 268:2069–73
4. Burke RJ, Chang C. Diagnostic criteria of acute rheumatic fever. Autoimmun Rev 2014, 13:503-7
5. Markowitz M. The decline of rheumatic fever: role of medical intervention: Lewis W. Wannamaker Memorial Lecture. J Pediatr 1985, 106:545–50
6. Milne RJ, Lennon DR, Stewart JM, Vander Hoorn S, Scuffham PA. Incidence of acute rheumatic fever in New Zealand children and youth. J Paediatr Child Health 2012,48:685–69145
7. Parnaby MG, Carapetis JR. Rheumatic fever in indigenous Australian children. J Paediatr Child Health 2010, 46:527–33
8. Atatoa-Carr P, Lennon D, Wilson N; New Zealand Rheumatic Fever Guidelines Writing Group. Rheumatic fever diagnosis, management, and secondary prevention: a New Zealand guideline. N Z Med J 2008, 121:59–69
9. Carapetis JR, Currie BJ. Rheumatic fever in a high incidence population: the importance of monoarthritis and low grade fever. Arch Dis Child 2001, 85:223–7
10. Merino Muñoz R, Viota Losada F, Sancho Madrid B, Castro Gussoni C, García-Consuegra Molina J. Rheumatic fever and post-streptococcal arthritis: clinical review. An Esp Pediatr 1991, 35:239–42
11.Koçak G, Imamoğlu A, Tutar HE, Atalay S, Türkay S. Poststreptococcal reactive arthritis: clinical course and outcome in 15 patients. Turk J Pediatr 2000, 42:101–4
12. Gewitz MH, Baltimore RS, Tani LY, Sable CA, Shulman ST, Carapetis J, et al. American Heart Association Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease of the Council on Cardiovascular Disease in the Young. Revision of the jones criteria for the diagnosis of acute rheumatic Fever in the era of Doppler echocardiography: a scientific statement from the
american heart association. Circulation 2015, 131:1806-18
13. Reményi B, Wilson N, Steer A, Ferreira B, Kado J, Kumar K, et al. World Heart Federation criteria for echocardiographic diagnosis of rheumatic heart disease: an evidence-based guideline. Nat Rev Cardiol 2012, 9:297–309
14. Vijayalakshmi IB, Vishnuprabhu RO, Chitra N, Rajasri R, Anuradha TV. The efficacy of echocardiographic criterions for the diagnosis of carditis in acute rheumatic fever. Cardiol Young 2008, 18:586–92
15. Ozdemir O, Işik S, Abaci A, Hizli S, Akelma AZ, Kişlal FM, et al. Silent enemy in acute rheumatic fever: subclinical carditis. Turk Kardiyol Dern Ars 2011, 39:41–6 16. Cann MP, Sive AA, Norton RE, McBride WJ, Ketheesan N. Clinical presentation of rheumatic fever in an endemic area. Arch Dis Child 2010, 95:455–7
17. Beg A, Sadiq M. Subclinical valvulitis in children with acute rheumatic fever. Pediatr Cardiol 2008, 29:619–23
18. Caldas AM, Terreri MT, Moises VA, Silva CM, Len CA, Carvalho AC, et al. What is the true frequency of carditis in acute rheumatic fever? A PROSPECTIVE clinical and Doppler blind study of 56 children with up to 60 months of follow-up evaluation. Pediatr Cardiol 2008, 29:1048–53
19. Rayamajhi A, Sharma D, Shakya U. Clinical, laboratory and echocardiographic profile of acute rheumatic fever in Nepali children. Ann Trop Paediatr 2007, 27:169–77
20. Ozer S, Hallioğlu O, Ozkutlu S, Celiker A, Alehan D, Karagöz T. Childhood acute rheumatic fever in Ankara, Turkey. Turk J Pediatr 2005, 47:120–4
21.Panamonta M, Chaikitpinyo A, Kaplan EL, Pantongwiriyakul A, Tassniyom S, Sutra S. The relationship of carditis to the initial attack of Sydenham’s chorea. Int J Cardiol 2004, 94:241–8
22. Ozkutlu S, Hallioglu O, Ayabakan C. Evaluation of subclinical valvar disease in patients with rheumatic fever. Cardiol Young 2003, 13:495–9
23. Karaaslan S, Demirören S, Oran B, Baysal T, Başpinar O, Uçar C. Criteria for judging the improvement in subclinical rheumatic valvitis. Cardiol Young 2003, 13:500–5
24. Khriesat I, Najada A, Al-Hakim F, Abu-Haweleh A. Acute rheumatic fever in Jordanian children. East Mediterr Health J 2003, 9:981–7
25. Lanna CC, Tonelli E, Barros MV, Goulart EM, Mota CC. Subclinical rheumatic valvitis: a long-term follow-up. Cardiol Young 2003,13:431–8
26. Figueroa FE, Fernández MS, Valdés P, Wilson C, Lanas F, Carrión F, et al. Prospective comparison of clinical and echocardiographic diagnosis of rheumatic carditis: long term follow up of patients with subclinical disease. Heart 2001, 85:407–10
27. Hilário MO, Andrade JL, Gasparian AB, Carvalho AC, Andrade CT, Len CA. The value of echocardiography in the diagnosis and followup of rheumatic carditis in children and adolescents: a 2 year prospective study. J Rheumatol 2000, 27:1082–6
28. Elevli M, Celebi A, Tombul T, Gökalp AS. Cardiac involvement in Sydenham’s chorea: clinical and Doppler echocardiographic findings. Acta Paediatr 1999, 88:1074–7
29.da Silva CH; Pediatric Committee, Sao Paulo Pediatric Rheumatology Society. Rheumatic fever: a multicenter study in the state of Sao Paulo. Rev Hosp Clin Fac Med Sao Paolo 1999, 54:85–90
30. Minich LL, Tani LY, Pagotto LT, Shaddy RE, Veasy LG. Doppler echocardiography distinguishes between physiologic and pathologic “silent” mitral regurgitation in patients with rheumatic fever. Clin Cardiol 1997, 20:924–6
31. Hoffman TM, Rhodes LA, Pyles LA, Balian AA, Neal WA, Einzig S. Childhood acute rheumatic fever: a comparison of recent resurgence areas to cases in West Virginia. W V Med J 1997, 93:260–3
32. Vasan RS, Shrivastava S, Vijayakumar M, Narang R, Lister BC, Narula J. Echocardiographic evaluation of patients with acute rheumatic fever and rheumatic carditis. Circulation 1996, 94:73–82
33. Maheu B, Costes P, Lionet P, Kamblock J, Papouin G, Mansourati J, et al. Contribution of Doppler echocardiography to the diagnosis of the first attack of acute rheumatic fever. Arch Mal Coeur Vaiss 1995, 88:1833–9
34. Abernethy M, Bass N, Sharpe N, Grant C, Neutze J, Clarkson P, et al. Doppler echocar-
diography and the early diagnosis of carditis in acute rheumatic fever. Aust N Z J Med 1994, 24:530–5
35. Veasy LG, Tani LY, Hill HR. Persistence of acute rheumatic fever in the intermountain area of the United States. J Pediatr 1994, 124:9–16
36. Wilson NJ, Voss L, Morreau J, Stewart JM, Lennon D. New Zealand guidelines for the diagnosis of acute rheumatic fever: small increase in the incidence of definite cases compared to the America Heart Association Jones criteria. N Z Med J 2013, 126:50–9
37. Caldas AM, Terreri MT, Moises VA, Silva CM, Carvalho AC, Hilário MO. The case for utilizing more strict quantitative Doppler echocardiographic criterions for diagnosis of subclinical rheumatic carditis. Cardiol Young 2007, 17:42–7
e-mail: gkouskoukal@ gmail.com
Correspondence
Kalliopi Gkouskou, Konstantinou Papadaki 4, Heraklion Crete
e-mail: gkouskoukal@ gmail.com Τ. +306938055379
Genetic predisposition and personalized nutritional intervention for childhood obesity
Kalliopi Gkouskou, Anastasia Markaki, Theodosios Theodosiou, Aristides Eliopoulos
Abstract
Introduction: Childhood obesity is a major public health issue especially in Greece where its prevalence is among the higher in Europe. This review aims to present genetic factors that permit a personalized nutritional intervention as well as the most cost effective technology for the analysis of these factors.
Methods: MeSHy program (Statnous, Greece) was utilized for a systematic review. Single nucleotide polymorphisms (SNPs), copy number variants (CNVs) and insertions/deletions that are related to childhood obesity and can determine a specific nutritional intervention were identified. In addition, a “market research” permitted the evaluation of the most cost-effective method for the analysis of these genetic factors. Finally, a pilot study of 24 children was performed for the initial evaluation of Οpen-array Real time PCR technology.
Results: Fifty genes (68 genetic factors) allow for the formation of a personalized nutritional intervention plan that aims to prevent or to treat childhood obesity. Open-array Real time PCR technology is bloodless, convenient, affordable and reliable for the evaluation of a great number of genetic factors in a large scale.
Conclusions: A personalized nutritional intervention based on genetic analyses for the prevention or treatment of childhood obesity is feasible with current technology.
Keywords: childhood obesity, genetic factors, personalized interventions
Kalliopi Gkouskou
Aristides Eliopoulos
Embiodiagnostics, Genetic Predisposition Research Company
Kalliopi Gkouskou
Aristides Eliopoulos
Medical School University of Crete, Molecular Biology Department
Kalliopi Gkouskou
Anastasia Markaki Department of Nutrition and Dietetics, TEI of Crete
Theodosios Theodosiou
Statnous, Statistical Consultancy
1.
2.
4.
Συντομογραφίες
rtPCR: Real time Polymerase Chain Reaction
CNV: copy number
variant
SNP: single nucleotide polymorphism
(n =870)
(n = 4329)
ΑΜΥ1 (copy number variation)
FTO (2 polymorhisms/epigenetic changes)
TMEM18
GNPDA2
MC4R
BDNF
TFAP2B
SEC16B
KCTD15
MTCH2
NEGR
POMC
NRXN3
FAIM2
GPRC5B
SH2B1
FANCL
LRRN6
TNNI3K
MAP2K5
HOXB5
CADM2
PTBP2
NUDT3
FLJ35779
ZNF608
TMEM160
RPL27A
OLFM4
APOA5
FABP2
GIPR
IRS1
MCM6(2 polymorphisms)
IL6
PPARGC1A
TAS2R38 (3 polymorphisms)
ACEI/D
SHBG*
PPMIK*
CLOCK*
15q26.1**
APOA5
APOE(2 polymorphisms)
CETP
LPL
NOS3
TCF7L2
Thombophilia panel (10 polymorphisms)
Vitamin D deficiency panel (4 polymorphisms)
Χαρακτηριστικά





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Τ./F.
e-mail:
Correspondence
Artemis Tsitsika
24 Mesogeion Av, Athens, 11527
e-mail: info@youth-health. gr T./F. +302107710824
Sexualization of children and adolescents
A. Tsitsika, V. Dimitrakopoulou
Abstract
Background: Sexualization is a relatively new issue. Τhe observation of the phenomenon and its impact on children and adolescents seem to interest the contemporary literature, constituting a modern age danger to individual sexual development, for both girls and boys. Part of the youth sexualization process is the repeated exposure to gender stereotypical ideas and images, which contributes to sexist attitudes and beliefs, as well as stereotyped perceptions of behavior towards men and women. Psychological researchers report that girls learn to think of and treat their own bodies as objects of others’ desires. Sexist attitudes and behaviors are well commercialized by the market and repetitively performed in popular culture. Girls are major consumers of media and receive and engage with these messages every day. According to bibliography, sexualization is a phenomenon present in most European countries. It occurs across cultures and social classes, although the channels may vary. Review evidence suggest that sexualization links to a variety of negative and harmful consequences which affect youth’s optimal emotional, psychosocial and sexual development. Current culture, parents, schools, and peers also sometimes contribute to the sexualization of girls. Research in Europe is limited and deficient in terms of intervention approaches towards the phenomenon. Adolescents should gain knowledge and life-coaching skills on areas that are not easy to deal with, such as self respect and filtering media and internet information.
Conclusions: Gaining more knowledge about sexualization and defining the phenomenon and its consequences to youth, would firstly facilitate the identification of the young victims, leading to efficient intervention approaches.
Keywords: sexualization, sexual objectification, adolescence, child abuse, sexism
A. Tsitsika
V. Dimitrakopoulou Adolescent Health Unit (Α.Η.U.), Second Department of Pediatrics, “P. & A. Kyriakou” Children’s Hospital, University of Athens, Greece
(30).
Dill, Gentile and Richter
Βιβλιογραφία
1. Task Force on the Sexualization of Girls ( 2007 ). Report of the APA Task Force on the Sexualization of Girls. Washington, DC: American Psychological Association. Available at www. apa.org/pi/wpo/sexualization.html
2. American Psychological Association, Report of the American Psychological Association Task Force on the Sexualisation of Girls (2010), Washington, DC, American Psychological Association (APA). Available at http://www.apa.org/pi/women/programs/girls/report-full.pdf
3. Fredrickson, B.L., Roberts, T.A. (1997). Objectification theory:Toward understanding women’s lived experience and mental health risks. Psychology of Women Quarterly, 21;173206.
4. McKinley, N.M., Hyde, J.S. (1996).The Objectified Body Consciousness Scale. Psychology of Women Quarterly, 20;181-215.
5. Strasburger, V.C. (2009). Children, adolescents and the media: what we know, what we don’t know and what we need to find out (quickly!).Arch Dis Child, 94(9);655-7.
6. Fine, M., McClelland,S.I. (2006). Sexuality Education and Desire: Still Missing after All These Years.Harvard Educational Review, 76(3);297-338.
7. Kaiser Family Foundation. (2003). New study finds children age zero to six spend as much time with TV, computers and video games as playing outside [Press release]. Available at www. kff.org/entmedia/entmedia102803nr.cfm
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Correspondence
Maria N. Vasilopoulou
8 Ippokratous str, Penteli, 15232
e-mail: mariza.vass@gmail. com Τ. +306944794442
Growing pains
Maria N. Vasilopoulou, Maria Tsolia
Abstract
“Growing pains” (GP) is the most common musculoskeletal complaint in childhood. The term refers to recurrent lower limb pain, affecting children aged 4-12 years of age. Its frequency in schoolchildren is estimated about 10-20%. It is a benign clinical entity. The diagnosis of GP can be made clinically, based on history and physical examination, by exclusion of more serious pathologic conditions.
This review article presents data concerning the epidemiology, the etiology/pathogenesis, the clinical characteristics, the differential diagnosis and the treatment of GP. It also reports all the available publications that studied: a) GP’s prevalence in different age groups of the general children’s population, b) the association between GP’s pathogenesis and several factors (growth, pain threshold, genetics, mild anatomic abnormalities, psychological distur- bance, restless legs syndrome, local overuse). Although many of these theories have not been sufficiently investigated, the lower pain threshold in children with GP, the absence of any evidence of inflammation, along with the familial nature of the disorder, classify GP in the group off unctional pain syndromes. These syndromes occur spontaneously or are easily provoked and they are characterized by genetic susceptibility, absence of any or mild somatic pathology and comorbid inter-relationships with other idiopathic pain syndromes. They are attributed to disordered somatosensory processing and they are influenced by psychological factors.
Keywords: Childhood, lower limb pains, growing pains, musculoskeletal pain syndromes.
Maria N. Vasilopoulou
Dr, Pediatrician-Intensivist, PICU Penteli’s Children Hospital
Maria Tsolia
Professor, 2nd Department of Pediatrics, School of Medicine, National and Kapodistrian University of Athens, Greece
1.
2.
3.
5.
6.
7.
Hawksley(6)
Naish and Apley(7)
Brenning(8)
Cullen and MacDonald
Oster and Nielsen (9),(11)
Abu-Arafeh and Russell(14)
Mikkelssonet al. (13)
Oberklaidetal.(14)
Evans A.(10)
VanDijkΑ. etal.(16)
Golding J, Northstone K (Avon Longitudinal study of Parents and Children (17)
4. Διάρκεια επεισοδίου <72 ωρών.
5. Πλήρης ύφεση των συμπτωμάτων στο διαστημα μεταξύ των επεισοδίων.
6. Εντόπιση στα κάτω άκρα (και σε αρθρώσεις)
1. Διάχυτα άλγη κάτω άκρων.
2. Τουλάχιστον 1 φορά/εβδομάδα το τελευταίο 3μηνο.
3. Μη τραυματικής αιτιολογίας.
Άλγος σε βραχίονες, κνήμες ή αρθρώσεις κατά τη διάρκεια του προηγούμενου
Bushnell
Ν.Gaucher
Leg Pain. In: Tunnessen WW, Roberts KB. Signs and Symptoms in Pediatrics, 3rd edition, Lippincott, Williams, and Wilkins, Philadelphia, 1999.p.633Atar D, Lehman WB, Grant AD. Growingpains.OrthopRev 1991; 20:133
1.
2.
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4.
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6.
7.
8.
9.
10.
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Correspondence
Stavroula Psoni
Thivon and Levadias St., 11527, Athens
e-mail:psonistavroula@ gmail.com
T. / F. +302107795553
Ciliopathies: The central role of primary cilia in a wide disease spectrum
Stavroula Psoni, Helena Fryssira
Abstract
The ciliopathies comprise a heterogeneous group of disorders which are associated with mutations at genes coding for proteins for the formation or functionality of the primary or immotile cilia. Since these cilia are components of practically all cells, the ciliopathies present mainly with retinal degeneration, renal disease and brain anomalies and secondarily with hepatic fibrocystic disease, diabetes mellitus, obesity and skeletal dysplasias. More than 80 genes correspond to more than 20 distinct disorders, while many diseases sharing some of the above features may be classified as ciliopathies in the near future, when the cilia molecular mechanisms will be further clarified. The cilia mainly induce cell signals and thus facilitate the cellular paracrine activity. They also play major role in cell division and orientation through the participation in several developmental pathways. The study of ciliopathies aids the comprehension of the mechanisms of tumorigenesis, cysteogenesis, mental retardation and diabetes mellitus. The new diagnostic technologies such as Next Generation Sequencing have optimized the genetic research through the simultaneous study of several ciliopathetic genes. The dynamic development of Medical Genetics in this field provides a powerful tool in genetic diagnosis, counseling and management of the patients and their families.
Keywords: immotile cilia, retinal degeneration, renal disease, CNS malformations, heterogeneity
Stavroula Psoni
Helena Fryssira Medical Genetics National and Kapodistrian University of Athens, School of Medicine, “Aghia Sophia” Children’s Hospital, Athens
(Microtubule-Organizing-Center, MTOC) (13).

Συντομογραφίες
NGS: Next Generation
Sequencing
PCD: Primary Ciliary Dyskinesia
IFT: Intraflagellar Transport
MTOC: MicrotubuleOrganizing-Center
PCP: PlanarCellPolarity
Shh: Sonic-Hedgehog
Smo: Smoothened
PTCH1: Patched
Homologue 1
mTOR: mammalianTarget of Rapamycin
PC1: polycystin-1
BBS: Bardet-Biedl Syndrome
ADPKD: Autosomal
Dominant Polycystic Kidney Disease
ARPKD: Autosomal
Recessive Polycystic Kidney Disease
PC2: polycystin-2
ESRD: End-Stage Renal Disease
PKHD 1: Polycystic Kidney and Hepatic Disease 1
PCLD: Polycystic Liver Disease
vHL: von HippelLindau
TSC: Tuberous Sclerosis
NPH: nephronophthisis
MCKD: Medullary
Cystic Kidney Disease
JS: Joubert Syndrome
MTS: MolarTooth Sign
JSRD: Joubert Syndrome Related Disorders
OFD: Orofaciodigital Syndrome
MGS: Meckel-Gruber Syndrome
JATD: Jeune Asphyxiating Thoracic Dystrophy
EVC: Ellis-van Creveld Syndrome
SRPS: Short-Rib Polydactyly Syndrome
1. Μη κανονική
Wnt - Planar Cell Polarity (Non-Canonical Wnt-PCP):
(Planar Cell Polarity, PCP)
(22).
2. Κανονική οδός Wnt (Canonical Wnt pathway):
3. Οδός Sonic-Hedgehog (Shh)
Gli (Gli1, Gli2, Gli3)(17) (Εικόνα 2).
4.
θηλαστικών (mammalian Target of Rapamycin)
Polycystic Kidney Disease, ADPKD
Autosomal Recessive Polycystic Kidney Disease,

CED: Cranioectodermal
Dysplasia
DDR: DNA Damage Response
PKHD1 (6p12.3p12.2)
PKD1 (16p13.3)
PKD2 (4q22.1)
PRKCSH (19p13.2) SEC (6q21)
VHL (3p25.3)
Polyductin/ fibrocystin
TSC1 (9q34.13)
TSC2 (16p13.3)
Polycystin-1 Polycystin-2
Hepatocystin SEC63
(Tuberous Sclerosis, TSC) (40). H

(NPH)
Συν. Senior-Løken (SLSN)
Ivemark) (45).

“lumping” και “splitting”. Από Enza Maria Valente, 5th Eur. Course in Clinical Dysmorphology, Rome 2013)
NPHP1 (2q13)
NPHP2/INVS (9q31.1)
NPHP3 (3q22.1)
NPHP4 (1p36.31)
NPHP5/IQCB1 (3q13.33)
NPHP6/CEP290 (12q21.2)
NPHP7/GLIS2 (16p13.3)
NPHP8/RPGRIP1L (16q12.2)
NPHP9/NEK8 (17q11.2)
NPHP10/SDCCAG8 (1q43)
NPHP11/TMEM67 (8q22.1)
NPHP12/TTC21B (2q24.3)
XPNPEP3/NPHPL1 (22q13.2)
NPHP1, INVS (NPHP2), NPHP3, NPHP4, IQCB1 (NPHP5), CEP290 (NPHP6), SDCAAG8 (NPHP10)
UMOD (16p12.3)
Nephrocystin-1 Inversin
Nephrocystin-3
Nephrocystin-4
IQCB1
CEP290 GLIS2
RPGRIP1L NEK8
SDCCAG8
Meckelin IFT139
XPNPEP3
Uromodulin/ Tamm-Horsfall protein
(Medullary Cystic Kidney Disease, MCKD)
συνεργιστικά (47).
Syndrome Related Disorders, JSRD) (40,51).
Συν. Bardet-Biedl (ΒΒS)
Συν. Alström
Συν. Ivemark
BBS1 (11q13.2)
BBS2 (16q12.2)
BBS3/ARL6 (3q11.2)
BBS4 (15q24.1)
BBS5 (2q31.1)
BBS6 /MKKS (20p12.2)
BBS7 (4q27)
BBS8/TTC8 (14q31.3)
BBS9 (7q14.3)
BBS10 (12q21.2)
BBS11/TRIM32 (9q33.1)
BBS12 (4q27)
BBS13/MKS1 (17q22)
BBS14/CEP290 (12q21.32)
BBS15/WDPCP (2p15)
BBS16/SDCCAG8 (1q43)
ALMS1 (2p13.1)
NPHP3 (3q22.1)
Nephrocystin-3
Συν. Joubert (JBTS)
(JSRD)
Συν. Meckel (MKS)
INPP5E/JBTS1 (9q34.3)
TMEM216/JBTS2 (11q12.2)
AHI1/JBTS3(6q23.3)
NPHP1/JBTS4 (2q13)
CEP290/JBTS5 (12q21.32)
TMEM67/JBTS6 (8q22.1)
RPGRIP1L/JBTS7 (16q12.2)
ARL13B/JBTS8 (3q11.1)
CC2D2A/JBTS9 (4p15.32)
OFD1/JBTS10 (Xp22.2)
KIF7 (15q26.1)
TCTN2 (12q24.31)
ATXN10 (22q13.31)
MKS1 (17q22)
TMEM216 /MKS2 (11q13)
TMEM67/MKS3 (8q22.1)
CEP290/MKS4 (12q21.32)
RPGRIP1L/MKS5 (16q12.2)
CC2D2A/MKS6 (4p15.32)
NPHP3(3q22.1)
TCTN2/MKS8 (12q24.31)
B9D1 (17p11.2)
INPP5E
TMEM216 Jouberin
Nephrocystin-1 CEP290 Meckelin
RPGRIP1L ARL13B CC2D2A OFD1 KIF7 Tectonic 2 Ataxin 10
MKS1
TMEM216 Meckelin CEP290 RPGRIP1L CC2D2A Nephrocystin-3 Tectonic 2 B9D1
Στοματοπροσωποδακτυλικό σύνδρομο 1 (Orofaciodigitals., OFD1)
Συν. βραχέων πλευρώνπολυδακτυλίας (shortribpolydactylys.) + Συν. Jeune/asphyxiating thoracic dystrophy, ATD)
Συν. Ellis-van Creveld (EVC)
Β9D2 (19q13.2)
OFD1 (Xp22.2)
IFT80 (3q25.33)
DYNC2H1 (11q22.3)
NEK1 (4q33)
TTC21B (2q24.3)
WDR35 (2p24.1)
IFT80/WDR56
DYNC2H1
NEK1
IFT1 39/THM1 IFT121/ WDR35
EVC (4p16.2)
EVC2 (4p16.2)
Kρανιοεκτοδερμική
(CED/Sensenbrenners.)
IFT122 (3q21.3)
WDR35 (2p24.1)
C14orf179 (14q24.3)
IFT122/ WDR10 IFT121/ WDR35 IFT43
δύο truncating “ισχυρών” μεταλλάξεων
γονίδια ΝPHP3, NPHP6/CEP290, NPHP8, NPHP11/ MKS3 προκαλούν MGS λόγω απώλειας πρωτεϊνικής λειτουργίας,
4.
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Correspondence
Maria Tsigga
Sindos, GR57400, Thessaloniki
e-mail: mtsigga@nutr. teithe.gr
Prevalence of simple and abdominal obesity among 15 year old adolescents in Greece: results from the
ADONUT
study
Maria Grammatikopoulou, Dimitrios Poulimeneas, Konstantina Gerothanasi, Efstratios Kiranas, Maria Tsigga & ADONUT Study Group
ADONUT Study Group: Calliope Aberiadou, EfrosyniAlexopoulou, DemetraApostolou, IoannaBozouri, Stella Chortiatinou, Olympia-Brenda Christodoulou, Maria Dalakoglou, PelagiaDamianou, Anastasia Daviti, Leonidas Dimitrakopoulos, KyriakiDimitriou-Kouspou, NikolaosDrougkas, AikateriniEfstathiadi, KonstantinosFamisis, Irene Foukou, Hermione Hatziaggelousi, DimitriosHatzipetrou, ArgyroHatzivasileiou, DiamantoulaHoremi, Thessalia-VaiaHroni, IoannisIdreos, Sofia Thanasogeorgou, Irene Theodoridou, Konstantina Theohari, IoannisKafantaris, AimiliaKakali, Marina Kalli, MeropiKalli, KonstantinosKalpakis, Christina Karabaliou, PanagiotaKarabela, AikateriniKaragkiozaki, Maria Karaventza, Georgia Kazasi, Maria Kiokaki, PolykseniKokka, Nikolaos Kokkinos, StamatiaKonstanta, EleniKotseridi, AhmetKourou, FotiniKsenaki, Anna Kyrgiou, Smaro-Maria Lazoglou, EleniMakantasi, ElianaMameka, Olga Maridaki, AikateriniMouratidou, Artemis Niarchou, Kyriaki Papa, Sofia Papagiannidou, KonstantinosPapathanasiou, AikateriniPappa, Charoula Pavli, AidonitsaPavlidi, Magdalene Pipeki, Athena Pourlioti, CharaPsachoula, Maria Psalidakou, Vera Psomopoulou, EleniRizou, EleniRomba, GeorgiosSbyrakis, SpyridoulaSoulaidopoulou, Maria Spanoudaki, AikateriniTriantafyllidou, VasilikiTriantafyllopoulou, Anastasia Troumpouki, KonstantiniaTsami, Georgia Tserepi, MarilenaTsivgouli, DespoinaValaora, Maria Verykokkou, Anna Vlahou, Anastasia Voulgaridou and Maria Zymara
Abstract
Background: Adolescent health is of cardinal importance, as a plethora of adulthood diseases are actually consolidated during adolescence. The aim of this study is to assess the prevalence of simple and abdominal obesity among 15-year-old Greek adolescents.
Methods: A nationally representative sample of 7028 adolescents, aged 12-19 years old, was recruited from schools throughout the country during 2010-2012. Body weight, stature and waist circumference were measured. The prevalence of each weight category was defined according to the International Obesity Task Force criteria and abdominal obesity was diagnosed according to the International Diabetes Federation.
Results: The majority of the participants were normoweight (66.1%), 22.1% were overweight, 7.3% obese, and the remaining 4.6% were underweight. Overweight including obesity reached 35% among boys and 23.6% among girls, with increased prevalence in Thrace and Thessaly. High prevalence of underweight was observed in Epirus. In the total sample 9.5% was diagnosed with abdominal obesity, including 10.1% of the girls and 9.0% of the boys. Central obesity reached Ό of the population among girls in Thrace and Thessaly.
Maria Grammatikopoulou
Dimitrios Poulimeneas
Konstantina Gerothanasi
Efstratios Kiranas
Maria Tsigga
Department of Nutrition & Dietetics, Alexander
Technological Educational Institute, Thessaloniki
Conclusions: Differences are observed in the weight status tiers between different geographical regions of the country, among 15-year-old adolescents. Spatial analysis of the data provide a better approach in highlighting areas in need of intervention.
Key words: Overweight, obese, waist circumference, Greek, adolescents
GmbH
(14)
με το International Diabetes Federation (IDF) (15).
PASW Statistics 18 (SPSS Inc., HongKong).
λιποβαρή (3.8%) (PR:0.7, CI:0.6-0.9,p≤0.001) ή
(6.1%) (ΡR:0.9, CI:0.80.9,p≤0.001)
(26.2%) (PR:1.5, CI:1.4-1.6, p≤0.001) ή
(8.8%) (PR:1.5, CI:1.3-1.8, p≤0.001) συγκριτικά
(PR:0.8, CI:0.6-0.9, p≤0.002),


CI: Confidence Intervals
Βουλγαρία Ιρλανδία
Κύπρος
Νορβηγία
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39. Currie C, Zanotti C, Morgan A, Currie D, de Looze M, Roberts C, et al, eds. Social determinants of health and well-being among young people: Health Behaviour in School-aged Children (HBSC) study: international report from the 2009/2010 survey. Copenhagen, WHO Regional Office for Europe, 2012 (Health Policy for Children and Adolescents, No. 6) (http://www.euro. who.int/__data/assets/pdf_file/0003/163857/Social-determinants-of-health-and-well-beingamong-young-people.pdf, accessed 21 September 2015).
40. Vaezghasemi M, Lindkvist M, Ivarsson A,Eurenius E. Overweight and lifestyle among 13−15 year olds: A cross-sectional study in northern Sweden. Scand J Public Health2012;40:221–228.
41. Tanner JM. Growth at Adolescence, 2nd ed. Oxford, Blackwell Scientific Publishers, 1962. 42. de Gouw L, Klepp K-I, Vignerovα J, Lien N, Steenhuis IH, Wind M, et al. Associations between diet and (in)activity behaviours with overweight and obesity among 10 to 18 year old Czech Republic adolescents. Public Health Nutr2010;13:1701–1707.
43. de Moraes AC, Fadoni RP, Ricardi LM, Souza TC, Rosaneli CF, Nakashima AT, et al. Prevalence of abdominal obesity in adolescents: a systematic review. ObesRev 2011;12:69–77.
44. Ekelund U, Anderssen S, Andersen LB, Riddoch CJ, Sardinha LB, Luan J, et al. Prevalence and correlates of the metabolic syndrome in a population-based sample of European youth. Am J Clin Nutr 2009;89:90-96.
45. Hakanen M, Lagstrøm H, Pahkala K, Sillanmäki L, Saarinen M, Niinikoski H, et al. Dietary and lifestyle counseling reduces the clustering of overweight- related cardiometabolic risk factors in adolescents. Acta Paediatr 2010;99:888–895.
(PosthocanalysesSSvs. H, SIRSvs. H: p<0.001).
(PosthocanalysesSSvs. H, SIRSvs. H: p<0.004).
e-mail: efi.tavladaki@ gmail.com Τ.
Correspondence
Theonymfi Tavladaki
Anapafseos 32, Agios Nikolaos, Crete, ΤΚ 72100 e-mail: efi.tavladaki@ gmail.com Τ. +306945553102
Early changes of amino acids in critical ill children dependent on disease severity
Theonymfi Tavladaki, Anna Maria Spanaki, Helen Dimitriou, EvaggelosPapakonstantinou, George Briassoulis
Abstract
Background: Since the metabolism of amino acids in critically ill patients remains subject of extensive research over the last decade, 22 amino acid profile investigated in children with severe sepsis(SS) or severe trauma with systemic inflammatory response syndrome (SIRS)during the early phase of stress compared with their corresponding levels in normal children serum. Also we tried to consider the direction of this mobility (upward, downward) and to correlate with clinical parameters, as expressed by the severity of disease or inflammatory markers (CRP).
Materials-Methods: The study included thirty-five critically ill patients aged ≤ 18years, of which 15 met the criteria for severe sepsis and 20 criteria for SIRS.These patients were compared with 27 healthy children served as controls. Serum samples from patients were collected in the first 24-hour introduction to the intensive care unit
Results: The metabolic spectrum of amino acids significantly altered in patients with sepsis. Methionine levels in patients’ plasma were significantly lower than in healthy children (Post hoc analyses SS vs. H, SIRS vs. H: p <0.001). Taurine was significantly higher in PICU patients than in healthy children (Post hoc analyses SS vs. H, SIRS vs. H: p <0.004). In SS or SIRS patients, negative correlations were recorded between amino acid levels and severity of disease markers (p <0,05); Glutamine was negatively correlated with not only APACHE II but also with CRP (p <0,05).
Conclusions: Αmino acids show significant variations depending on the severity of the disease and the inflammatory response to stress. Acute stress dietary interventions with mixtures of amino acids in ICU patients cannot be correctly predicted and can negatively influence metabolism.
Theonymfi Tavladaki
Anna Maria Spanaki
George Briassoulis
Paediatric Intensive Care Unit (PICU) ,University Hospital of Crete
Helen Dimitriou
Hematology and Oncology Laboratory, University of Crete, Medical School
EvaggelosPapakonstantinou Neo Lab , Αthens
159,38±56,53
139,11±65,09
125,61±31,38
48,34±24,42 11,00±10,66
45,57±20,11
152,42±59,98
35,53±16,67
62,50±31,83
65,69±12,45
189,95±95,67
19,31±9,14
11,05±4,71
244,95±112,48
90,07±21,00
34,32±7,40
125,77±50,95
70,43±22,66
15,03±4,44
36,69±11,35
49,73±24,74
236,73±55,35
136,89±49,59
138,84±48,65
118,73±34,89
73,52±20,68
7,78±5,96
50,31±16,87
131,47±47,30
37,23±14,30
54,94±22,17
68,68±17,63
96,73±78,73
16,31±7,23
9,02±4,50
132,07±84,72
86,17±41,37
33,58±16,38
154,40±52,55
48,54±11,37
9,24±3,65
30,87±10,70
34,18±16,90
264,18±43,46
168,14±72,13
120,76±55,69
113,60±41,25
62,88±33,69 10±3,34
54,00±24,74
112,80±40,29
32,78±14,76
54,93±14,45
76,65±23,04
157,77±99,50
16,82±8,26
8,30±2,84
169,08±101,39
83,29±26,14
32,59±9,77
144,25±86,87
54,26±23,61
11,48±4,00
42,02±9,25
42,69±22,37
227,73±37,07 0,292 0,672



Chiarla
Mechteld A. R. Vermeulen et al (18)
Tomoya Hirose et al (9)
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16. Paauw JD, Davis AT. Taurine concentrations in serum of critically injured patients and ageand sex-matched healthy control subjects. Am J Clin Nutr. 1990 Oct;52(4):657–60.
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18. Vermeulen MAR, van Stijn MFM, Visser M, Lemmens SMP, Houdijk APJ, van Leeuwen PAM, et al. Taurine Concentrations Decrease in Critically Ill Patients With Shock Given Enteral Nutrition. JPEN J Parenter Enteral Nutr. 2015 Jan 13;
19. Angus DC, Linde-Zwirble WT, Lidicker J, Clermont G, Carcillo J, Pinsky MR. Epidemiology of severe sepsis in the United States: analysis of incidence, outcome, and associated costs of care. Crit Care Med. 2001 Jul;29(7):1303–10.
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Aθήνα, 11521 e-mail: ekornarou@esdy. edu.gr Τ. 2132010383, 2132010385
Correspondence
Kornarou Eleni
Αlexandras Av. 196, Athens, 11521
e-mail: ekornarou@esdy. edu.gr
Τ. +302132010383, +302132010385
Networks of primary care and welfare for deaf primary school children. Parents’ satisfaction
Bredaki Maria, Ktena Danai, Barbouni Anastasia, Kornarou Eleni
Abstract
Background: Deafness is a particularly difficult situation for children, as it affects their whole life.
Objective: Our objective was to assess the effectiveness of care and welfare networks, that are currently available to primary school children facing hearing problems and to evaluate the parents’ satisfaction from the use of these networks.
Material and Methods: We conducted our research, using anonymous questionnaires addressed to 96 parents of children with severe hearing problems or deafness. The children were chosen from two primary schools in Attica, while attending there (5/2013- 12/2013). SPSS was used for data analysis.
Results: 70 parents took part in the research (72.9%). 77.9% were mothers with mean age 40 years. 60% of the children with hearing problems were boys, with a mean age of 9 years. 61.4% of the children used hearing aid and 90% attended special courses. Parents were satisfied from informational campaignes, financial aid and emotional support from school, their other children/their partner, their family and deaf adults. School was found to be the most supporting formal care network (78.6%). Parents’ satisfaction from social services and insurance networks was ‘’inadequate’’.
Conclusions: The parents’ degree of satisfaction is directly dependent from the age when the child’s hearing problem was tracked and from the parents’ educational level; regardless of whether the children attended special courses (except for speech therapy) or not. More effective social support from non-official care networks and immediate vocational rehabilitation during adulthood from official care networks were considered necessary.
Keywords: deaf children, care-welfare networks
Bredaki Maria
Ktena Danai
Kornarou Eleni
National School of Public Health, Department of Epidemiology and Medical Statistics
Barbouni Anastasia
National School of Public Health, Department of Public Health
Διερευνήθηκαν
1.
2.
3.
4.
5.
6.
1.
Γ. (1998)
2. Bat-ChavaY (2000) Diversity of deaf identities. American Annals of the Deaf 145:420-428.
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4. Clymer E. (1995). The psychology of deafness: Enhancing self – concept in the deaf and hearing impraired. Family Therapy, 22, 113-120.
5. Jambor E., Elliott M. (2005). Self-esteem and Coping Strategies among Deaf Students, journal of Deaf Studiesand Deaf Education, 10, 63-81.
6. Triantis H.,C. (1996). The psychological measurement of cultural syndromes. American Psychologist, 51, 407-413.
7. Schlesinger H.S. (2000). A developmental model applied to problems of deafness. Journal of Deaf Studies and Deaf Education, 5 (4), 349-361.
8. Emerton R. G. (1996). Marginality, biculturalism, and social identity of deaf people. In. I. Parasnis (Ed)., Cultural and language diversity and the deaf experience (pp. 136-145). Cambridge: CambridgeUniversityPress.
9. Καμπουράκος Κ. (2003), Εκπαίδευση
(2013).
http://prosvasi.uoa.gr
Correspondence
Moschovi Maria “Aghia Sofia” Children’s Hospital HematologyOncology Unit, First Department of Pediatrics, University of Athens, “Aghia Sofia” Children’s Hospital, Athens
e-mail: mmoschov@med. uoa.gr
Τ. +302107452132
Μicaela Nicolaou
Yiouli P. Ktena
Archontis Zampogiannis
Anastasia Athanasiadou
Spiros Vlahopoulos
George Lambrou
Maria Adamaki
Maria Moschovi Hematology-Oncology Unit, First Department of Pediatrics, University of Athens, “Aghia Sofia” Children’s Hospital
Νο relapse and effective prevention of complications of secondary hemosiderosis with iron chelation with deferasirox in childhood malignancies
Μicaela Nicolaou, Yiouli P. Ktena, Archontis Zampogiannis, Anastasia Athanasiadou, Spiros Vlahopoulos, George Lambrou, Maria Adamaki, Maria Moschovi
Summary
Introduction: Secondary iron overload often occurs in childhood malignancies, due to the multiple blood transfusions during therapy. Iron overload causes adverse effects but the iron mobilization induced during chelation may cause a recurrence of neoplastic desease, as it is used to tumor cell proliferation.
Aim of this study is to present the effectiveness and safety of deferasirox, in this group of patients. Method: 53 out of 252 children with malignancy in remission and secondary hemosiderosis received Deferasirox. MRI with special software was performed for the evaluation of liver and cardiac iron overload, as well as opthalmological-audiological testing prior to the initiation of deferasirox. Monitoring of ferritin and biochemical markers for kidney and liver function was performed before initiation of deferasirox and during therapy. Deferasirox was administered for an average of 6 months (SD:4.6 range: 0.4 to19.2).
Results: There was no recurrence of the neoplastic disease. The average monthly metabolic rate of ferritin levels was -10.8 mg/L before the initiation of treatment (p=0.02), and -92.8 mg/L during therapy with deferasirox (p<0.001). The difference in the monthly metabolic rate of ferritin levels before and after the initiation of therapy was -82 mg/L (p<0.001). Two children presented with skin rash, one with gastrointestinal disorders and one with fully reversible acute renal failure. Patients continued to have follow-up for three more years.
Conclusion: 1) There was no recurrence of the neoplastic disease. 2) Deferasirox was effective in reducing the iron load. 3) Adverse events were mild and reversible.
Keywοrds: secondary hemosiderosis, iron chelation, Deferasirox, complications, relapse, childhood malignancy
Acknowledgements
The authors express their acknowledgements to the children and their parents who agreed to participate in this study.
There was not any funding for the use of Deferasirox in this study.
(SD=98.
U/L (SD=61.
133-411),
U/L (SD=98.
0,2 - 1,2).
3-369).
-82 mg/L (95% CI, 111,6 έως 53.9 Ρ <0,001).
1. Ruccione, K.S., Midambi K, Sposto R et al., Association of projected transfusional iron burden with treatment intensity in childhood cancer survivors. Pediatr Blood Cancer, 2012. 59(4): p. 697-702.
2. Buss, J.L., F.M. Torti, and S.V. Torti, The role of iron chelation in cancer therapy. Curr Med Chem, 2003. 10(12): p. 1021-34.
3. Chueh, H.W., Sung KW, Lee SH, Yoo KH, Koo HH, Kim JY, et al., Iron chelation treatment with deferasirox prior to high-dose chemotherapy and autologous stem cell transplantation may reduce the risk of hepatic veno-occlusive disease in children with high-risk solid tumors. Pediatr Blood Cancer, 2012. 58(3): p. 441-7.
4. Leung, A.W., Chu WC, Lam WW, Lee V, Li CK. Magnetic resonance imaging assessment of cardiac and liver iron load in transfusion dependent patients. Pediatr Blood Cancer, 2009. 53(6): p. 1054-9.
5. Brissot, E., B.N. Savani, and M. Mohty, Management of high ferritin in long-term survivors after hematopoietic stem cell transplantation. Semin Hematol, 2012. 49(1): p. 35-42.
6. Gamberini, M.R., V. De Sanctis, and G. Gilli, Hypogonadism, diabetes mellitus, hypothyroidism, hypoparathyroidism: incidence and prevalence related to iron overload and chelation therapy in patients with thalassaemia major followed from 1980 to 2007 in the Ferrara Centre. Pediatr Endocrinol Rev, 2008. 6 Suppl 1: p. 158-69.
7. Wood, J.C., Noetzl L, Hyderi A, Joukar M, Coates T, Mittelman S. Predicting pituitary iron and endocrine dysfunction. Ann N Y Acad Sci, 2010. 1202: p. 123-8.
8. Albini, A., Pennesi G, Donatelli F, Cammarota R, De FS, Noonan DM. Cardiotoxicity of anticancer drugs: the need for cardio-oncology and cardio-oncological prevention. J Natl Cancer Inst, 2010. 102(1): p. 14-25.
9. Armstrong, G.T., M. Stovall, and L.L. Robison, Long-term effects of radiation exposure among adult survivors of childhood cancer: results from the childhood cancer survivor study. Radiat Res, 2010. 174(6): p. 840-50.
10. Ness, K.K., Saro H Armenian, Nina Kadan-Lottick, James G Gurney. Adverse effects of treatment in childhood acute lymphoblastic leukemia: general overview and implications for long-term cardiac health. Expert Rev Hematol, 2011. 4(2): p. 185-97.
11. Termuhlen, A.M., Tersak JM, Liu Q, Yasui Y, Stovall M, Weathers A, et al., Twenty-five year follow-up of childhood Wilms tumor: a report from the Childhood Cancer Survivor Study. Pediatr Blood Cancer, 2011. 57(7): p. 1210-6.
12. van der Pal H.J., van Dalen EC, Hauptmann M, Kok WE, Caron HN, van den Bos C, et al., Cardiac function in 5-year survivors of childhood cancer: a long-term follow-up study. Arch Intern Med, 2010. 170(14): p. 1247-55.
13. Delea, T.E., Sofrygin O, Thomas SK, et al., Cost effectiveness of once-daily oral chelation therapy with deferasirox versus infusional deferoxamine in transfusion-dependent thalassaemia patients: US healthcare system perspective. Pharmacoeconomics, 2007. 25(4): p. 329-42.
14. Buss, J.L., Greene BT, Turner J, Torti FM, Torti SV. Iron chelators in cancer chemotherapy. Curr Top Med Chem, 2004. 4(15): p. 1623-35.
15. Hann, H.W., M.W. Stahlhut, and C.L. Hann, Effect of iron and desferoxamine on cell growth and in vitro ferritin synthesis in human hepatoma cell lines. Hepatology, 1990. 11(4): p. 566-9.
16. Ohyashiki, J.H., Kobayashi C, Hamamura R, Okabe S, Tauchi T, Ohyashiki K. The oral iron chelator deferasirox represses signaling through the mTOR in myeloid leukemia cells by enhancing expression of REDD1. Cancer Sci, 2009. 100(5): p. 970-7.
17. Jeon, S.R., Lee JW, Jang PS, Chung NG, Cho B, Jeong DC. Anti-leukemic properties of deferasirox via apoptosis in murine leukemia cell lines. Blood Res, 2015. 50(1): p. 33-9.
e-mail: alpassal@yahoo.gr; alpassal@gmail.com Τ. 2132009221
Correspondence
Alexandros Passalidis
Thivon & Livadias,11527
e-mail: alpassal@yahoo.gr; alpassal@gmail.com Τ. +302132009221
Α prospective evaluation new scoring system for diagnosis of acute appendicitis in children
Adelais Tzortzopoulou, Panagiota Giamarelou, Aikaterini Michail-Strantzia, Alexandros Passalidis
Abstract
Οbjective: To evaluate a new scoring system for diagnosis of acute appendicitis in children with acute pain in the right iliac fossa, who are classified in the gray area in Paediatric appendicitis score (PAS 4-7).
Methods: Prospective, observational study of 39 children aged 4-15 years with right iliac fossa pain and classified in the gray zone in PAS, conducted at the pediatric emergency department during a nine months period (May 2014 - February 2015). These children evaluated with the new scoring system, which includes nine clinical and laboratory parameters, some of which are not included in PAS. The ultrasound findings were disregarded. The score of each patient according to the new score system was compared with the histological findings of his/her appendix. Results: Of the 39 patients enrolled 35 (89,7%) had inflammatory and necrotic appendicitis, according to the histological findings. The new scoring system was found to have sensitivity 97,1% (P<0,05), specificity of 25% (P<0,05), positive predictive value 91.8% (P<0,05) and negative predictive value of 50% (P<0,05).
Conclusions: Our new scoring system may contribute to the best decision of treatment in pediatric patients with acute appendicitis, that initially appear with unclear clinical symptoms and are classified in the gray area of PAS.
Keywords: Appendicitis, clinical pathway, biomarkers, Pediatric Appendicitis Score (PAS)
Adelais Tzortzopoulou
Alexandros Passalidis
Second Department of Pediatric Surgery, “Panagiotis & Aglaia Kyriakou” Children’s Hospital, Athens
Panagiota Giamarelou
Aikaterini MichailStrantzia
Department of Pathology, “Panagiotis & Aglaia Kyriakou” Children’s Hospital, Athens
Πίνακας 1: Pediatric Appendicitis Score (PAS)
Sign/Symptom
Cough/percussion/heel tapping tenderness at Right Lower Quadrant
Anorexia
Low-grade fever >38
Nausea/emesis
Right Lower Quadrant tenderness on light palpation
Leucocytosis (>10000/mm3)
Left shift (>75% neutrophilia) Ουδετεροφιλία >75%
Migration of pain to Right Lower Quadrant

(9,28,31).
Βιβλιογραφία
1. Kelly- Quon Li, Tseng CH, Jen HC, Lee SL, Shew SB, Hospital type as a metric for racial disparities in pediatric appendicitis. J Am Coll Surg. 2013;216(1):74-82
2. Thompson GC. Variations in the diagnosis and management of acute appendicitis at Canadian pediatric emergency departments. American Academy of Pediatrics, Pediatr Emerg Care. 2012;28(10): 1099-1100
3. Joon Sung Kim, Acute Abdominal Pain in Children, Pediatr Gastroenterol Hepatol Nutr 2013, 16(4):219-224
4. Mandeville K, Pottker T, Bulloch B, Liu J, Using appendicitis scores in the pediatric ED. Am J Emerg Med. 2011Nov;29(9):972-7
5. Escriba A , Gamell AM, Fernandez Y, Quintilla JM, Cubells CL, Prospective validation of two systems of classification for the diagnosis of acute appendicitis, Emerg Care 2011Mar;27(3):1659
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