Professional Documents
Culture Documents
2
2015
E E
Paediatriki Volume 78
Number 2
April
May
June
2015
Trimonthly publication of the Greek Paediatric Society
150
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Paediatriki
Volume 78 | Number 2 | April - May - June 2015
President
A. Constantopoulos
Editorial board
Director
G. S. Varlamis
Contents A. Kapogiannis
S. Kitsiou-Tzeli
E. Mantadakis
P. Panagiotopoulou-Gartagani
A. Papadopoulou
V. Papaevagelou
154 A. Papathanassiou
A. Siamopoulou-Mavridou
SHORT ABSTRACTS A. Syrigou-Papavasiliou
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
153
Owner 246
Greek Paediatric Society Networks of primary care and welfare for deaf primary school children.
15, Mpakopoulou st. Parents satisfaction
GR - 15451, . Psychiko
Tel.: +302107771140 Bredaki Maria, Ktena Danai, Barbouni Anastasia, Kornarou Eleni
e-mail: grammateia@e-child.gr
266
prospective evaluation new scoring system for diagnosis of acute appendicitis in children
Adelais Tzortzopoulou, Panagiota Giamarelou, Aikaterini Michail-Strantzia, Alexandros Passalidis
154
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Jones .
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:
1. Eliot L. Whats Going On in There? How the Brain and Mind Develop in the First Five Years of Life. New York, NY: Bantam Books; 1999. 2. UNICEF/World Health Organization. Integrating Early Childhood Development (ECD) Activities
Into Nutrition Programmes in Emergencies. Why, What and How [guidance note]. 2014:1-16. 3. Hernandez-Reif M, Diego M, Field T. Preterm infants show reduced stress behaviors and activity after 5 days of massage therapy. Infant
Behav Dev. 2007;30(4):557-561. 4. White-Traut RC, Schwertz D, McFarlin B, Kogan J. Salivary cortisol and behavioral state responses of healthy newborn infants to tactile-only and multisensory interventions. J Obstet Gynecol Neonatal
Nurs. 2009;38:22-34. 5. Mindell JA, Telofski LS, Wiegand B, Kurtz ES. A nightly bedtime routine: impact on sleep in young children and maternal mood. Sleep. 2009;32(5):599-606. 6. White-Traut RC, Nelson MN, Silvestri JM, et al.
Effect of auditory, tactile, visual, and vestibular intervention on length of stay, alertness, and feeding progression in preterm infants. Dev Med Child Neurol. 2002;44:91-97. 7. Field T, Cullen C, Largie S, Diego M, Schanberg S, Kuhn C.
Lavender bath oil reduces stress and crying and enhances sleep in very young infants. Early Hum Dev. 2008;84(6):399-401. 8. Farroni T, Csibra G, Simion F, Johnson MH. Eye contact detection in humans from birth. Proc Natl Acad
Sci U S A. 2002;99(14):9602-9605. 9. Herz RS. A naturalistic analysis of autobiographical memories triggered by olfactory visual and auditory stimuli. Chem Senses. 2004;29(3):217-224. 10. Sullivan RM, Toubas P. Clinical usefulness
of maternal odor in newborns: soothing and feeding preparatory responses. Biol Neonate. 1998;74(6):402-408.
158
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REVIEW ARTICLES
159
Correspondence
aria Gogou
Revision of the jones criteria for the
Dimitriou Nika 44, 60100,
aterini
e-mail: mariaangogou@
diagnosis of acute rheumatic fever.
gmail.com
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 dispro-
portionate 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 Associations Council on Car-
diovascular 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 find-
ings of carditis in major criteria.
. ,
Kawasaki
(1).
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Jones American Heart Association 2015
Jones, ,
Maria Gogou .
Anastasia Keivanidou
Andreas Giannopoulos
Unit for Pediatric Cardiol- Jones:
ogy, 2nd Department Jones
of Pediatrics, Aristotle . 1944. -
University of Thessalon- 1992 2000 American Heart
iki, University General
Association, 2001
Hospital of Thessaloniki
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1. Seckeler MD, Hoke TR. The worldwide epidemiology of acute rheumatic fever and rheu-
matic heart disease. Clin Epidemiol 2011, 3:67-84
2. Ferrieri P; Jones Criteria Working Group. Proceedings of the Jones Criteria workshop. Cir-
culation 2002, 106:2521-3
3. Dajani AS, Ayoub E, Bierman FZ, Bisno AL, Denny FW, Durack DT, et al. Special Writ-
ing 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, 268:206973
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. Wan-
namaker Memorial Lecture. J Pediatr 1985, 106:54550
6. Milne RJ, Lennon DR, Stewart JM, Vander Hoorn S, Scuffham PA. Incidence of acute rheu-
matic fever in New Zealand children and youth. J Paediatr Child Health 2012,48:68569145
7. Parnaby MG, Carapetis JR. Rheumatic fever in indigenous Australian children. J Paediatr
Child Health 2010, 46:52733
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, 121:5969
9. Carapetis JR, Currie BJ. Rheumatic fever in a high incidence population: the importance of
monoarthritis and low grade fever. Arch Dis Child 2001, 85:2237
10. Merino Muoz R, Viota Losada F, Sancho Madrid B, Castro Gussoni C, Garca-Consuegra
Molina J. Rheumatic fever and post-streptococcal arthritis: clinical review. An Esp Pediatr 1991,
35:23942
11.Koak G, Imamolu A, Tutar HE, Atalay S, Trkay S. Poststreptococcal reactive arthritis:
clinical course and outcome in 15 patients. Turk J Pediatr 2000, 42:1014
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
163
164
diography and the early diagnosis of carditis in acute rheumatic fever. Aust N Z J Med 1994,
24:5305
35. Veasy LG, Tani LY, Hill HR. Persistence of acute rheumatic fever in the intermountain area
of the United States. J Pediatr 1994, 124:916
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, 126:509
37. Caldas AM, Terreri MT, Moises VA, Silva CM, Carvalho AC, Hilrio MO. The case for
utilizing more strict quantitative Doppler echocardiographic criterions for diagnosis of subclini-
cal rheumatic carditis. Cardiol Young 2007, 17:427
165
166
A
,
4,
e-mail: gkouskoukal@
gmail.com
. 6938055379
, , ,
:
.
- (cost effective)
.
-:
MeSHy ( Statnous) (SNPs),
(CNVs) /
.
.
24
pen-array Real time PCR.
: 50 (68 )
. open-array Real time PCR
.
, , 99%.
:
.
: , , ,
Statnous,
-
REVIEW ARTICLES
167
Correspondence
Kalliopi Gkouskou,
Genetic predisposition and person-
Konstantinou Papadaki 4,
Heraklion Crete
e-mail: gkouskoukal@
alized nutritional intervention for
gmail.com
. +306938055379 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 per-
mit 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 nu-
cleotide polymorphisms (SNPs), copy number variants (CNVs) and insertions/deletions that are
related to childhood obesity and can determine a specific nutritional intervention were identi-
fied. 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 pen-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 preven-
tion or treatment of childhood obesity is feasible with current technology.
,
Kalliopi Gkouskou
, ,
Aristides Eliopoulos
Embiodiagnostics, Genetic
Predisposition Research (1).
Company ,
(2).
Kalliopi Gkouskou ,
Aristides Eliopoulos
Medical School University .
of Crete, Molecular Biol- ,
ogy Department
Kalliopi Gkouskou
.
Anastasia Markaki 1,
Department of Nutrition .
and Dietetics, TEI of :
Crete ) ,
) ,
Theodosios Theodosiou ,
Statnous, Statistical Con- ) .
sultancy
168
1:
1.
2. :
3.
4.
(1)
1. :
2. (2, 3).
3.
(4)
4.
:
(5).
,
, .
MeSHy
(http://tools.bat.infspire.org/meshy).
Statnous
,
(semantic similarity).
Pub Med (3). ,
Pub Med.
( >1 <-1)
. 870
polymorphism(s), SNP(s) copy number variants
obesity and children Pub Med.
MeSHy 4329 2945 (
3152) >1 <-1
870.
.
( ) ( )
169
(4). ,
rtPCR: Real time Poly- ( 1).
merase Chain Reaction
CNV: copy number 1:
variant PRISMAflowchart
SNP: single nucleotide
polymorphism
Pubmed
(n =870) MeSHy
(n = 4329)
(n =3152)
.
(
screening )
(n = 3152)
( )
(n =2695)
(n =457) screening
(n =337 )
(n = 120)
( -)
(SNPs CNVs)
.
24 -
open-array Real time PCR -
.
50 (68 ) ( 2) -
:
) (5-9)
, (10-14)
) ( )
170
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, .. (bias)
) ( )
, (15-18).
1: 50
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
171
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
-
3:
3:
(6, 7) (8)
(9-11) (12)
(13-16) (17)
(18) (19)
(22)-
(20, 21) D
172
2
MassArray, SNPlex, SNOstream Taqman OpenArray.
2: -
(SNPnumber) (samplesize), (23).
1: QuantStudio 12K
Flex Real-time Open Array
(fine mapping) System & AcuFill Robotic System
(Life Technologies).
real time PCR >99%. Quant Studio PCR
( 1) open Array digital PCR
( 12.000
3 40 )
PCR.
(multiplex PCR) ,
.
Quant Stu-
dio open Array (64 )
insertions/deletions CNVs.
24 open-array real time PCR
24
, mul-
tiplex PCR Life
Technologies (34).
2:
,
. ,
,
(SNPs CNVs)
.
. (
: ) (18) ) )
173
(5).
, ,
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(SNPs CNVs)
.
() lorcaserin hydrochloride phenteramine/topiramate (4).
,
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2,
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, ,
.
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related copy number variants and dietary behaviors in childhood obesity. Nutrients. 2015
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eraldocuments/cms_098456pdf.
9
26-28 2016
www.pediatric-subspec.gr
(International Pediatric Association IPA)
IPA
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EVEREST TRAVEL & CONGRESSES
15, 15451 . 14 - 16, 105 52
T: 2107771140 : 2103249242
F: 2107771663 F: 2103242395
W: www.e-child.gr W: www.everesttravel.gr
E: grammateia@e-child.gr E: conference@everesttravel.gr
176
: sexualization 24, ,
11527
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e-mail: info@youth-health.
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. &
.
REVIEW ARTICLES
177
Correspondence
Artemis Tsitsika
Sexualization of children and adoles-
24 Mesogeion Av, Athens,
11527
e-mail: info@youth-health.
cents
gr
T./F. +302107710824 A. Tsitsika, V. Dimitrakopoulou
Abstract
Background: Sexualization is a relatively new issue. he 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 youths 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 ap-
proaches 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 in-
formation.
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.
, .
1980,
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,
.
A. Tsitsika
V. Dimitrakopoulou
,
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drens Hospital, University
of Athens, Greece (1,2). -
(3,4). ,
: sexualization
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, 68% ,
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rooms, (7-10).
Roberts (2005) , 47% 8-18
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tion) , .
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1999,
(31). Ward Rivadeneyra (2002)
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(32). 40
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). ,
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. Liss (2011)
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Enjoyment of Sexualization Scale, ESS)
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,
.
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188
A
N.
8, .
15232
. ,
e-mail: mariza.vass@gmail.
com
. 6944794442
(AA)
.
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,
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. &
.
REVIEW ARTICLES
189
Correspondence
Maria N. Vasilopoulou
Growing pains
8 Ippokratous str, Penteli,
15232
Maria N. Vasilopoulou, Maria Tsolia
e-mail: mariza.vass@gmail.
com
. +306944794442
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) GPs prevalence in different age groups of the general
childrens population, b) the association between GPs 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 investigat-
ed, 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 syn-
dromes. 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-relation-
ships 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.
. (), ,
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(Diagnostic and Statistical Man-
ual for Primary Care / DSM-PC Child and Adolescent Versions) (2),
Maria N. Vasilopoulou
Dr, Pediatrician-Inten- (somatic complaint variation). ,
sivist, PICU Pentelis
Children Hospital
(3).
Maria Tsolia
Professor, 2nd Depart-
AA (growing pains) 1823(4).
ment of Pediatrics, School ,
of Medicine, National and . ,
Kapodistrian University of
Athens, Greece (5).
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Bushnell (50).
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(58).
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3:
wing
O
(.. )
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(Patel-
lofemoralpainsyndrome)
.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
/ ,
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201
202
: A
,
11527,
e-mail: psonistavroula@
gmail.com
. / F. 2107795553
.
, ,
,
, . >80
>20 ,
,
.
.
.
, , , ,
. Next Generation Sequenc-
ing (NGS)
.
.
: , , ,
,
,
,
REVIEW ARTICLES
203
Correspondence
Stavroula Psoni
Ciliopathies: The central role of pri-
Thivon and Levadias St.,
11527, Athens
e-mail:psonistavroula@
mary cilia in a wide disease spectrum
gmail.com
T. / F. +302107795553 Stavroula Psoni, Helena Fryssira
Abstract
The ciliopathies comprise a heterogeneous group of disorders which are associated with muta-
tions 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
(primarycilium)
,
(ciliopathies) (1).
,
, (2). -
: , ,
, (2).
1000
40 (2).
: .
9+0
. ( 9+2)
(3).
Stavroula Psoni ATP
Helena Fryssira
Medical Genetics National (4). ,
and Kapodistrian Univer- (, )
sity of Athens, School of
(2).
Medicine, Aghia Sophia
Childrens Hospital,
(primary ciliary dyskinesia, PCD)
Athens -
- ,
(situsinversus) (5).
, ,
204
(6) ( 1). ,
,
. ,
: 1. ,
2. , 3. , 4.
5. (2).
, , , ,
(7). ,
. ,
,
(2).
-
,
, .
.
NGS: Next Generation
Sequencing :
PCD: Primary Ciliary
Dyskinesia
IFT: Intraflagellar (15).
Transport ,
MTOC: Microtubule- .
Organizing-Center ,
PCP: PlanarCellPolarity Wnt
Shh: Sonic-Hedgehog Hedgehog, Notch, JAK-STAT, mTOR PDGF ( 2). O
Smo: Smoothened ( NEK8, PC1),
PTCH1: Patched ,
Homologue 1 (7,12).
mTOR: mammalian- ,
Target of Rapamycin :
PC1: polycystin-1
BBS: Bardet-Biedl 1. Wnt - Planar Cell Polarity (Non-Canonical Wnt-PCP):
Syndrome H (Planar Cell Polarity, PCP)
ADPKD: Autosomal
Dominant Polycystic (16,22). PCP
Kidney Disease ,
ARPKD: Autosomal .
Recessive Polycystic
Kidney Disease (9). ,
PC2: polycystin-2
ESRD: End-Stage Renal ,
Disease (22).
PKHD 1: Polycystic
Kidney and Hepatic 2. Wnt (Canonical Wnt pathway):
Disease 1 H Wnt 19
PCLD: Polycystic Liver ,
Disease - Disheveled (2,22).
vHL: von Hippel-
Lindau (NPHS2) Bardet-Biedl (Some) (16)
TSC: Tuberous Sclerosis ( 2). BBS
NPH: nephronophthisis -,
MCKD: Medullary . , Wnt
Cystic Kidney Disease - ,
JS: Joubert Syndrome (2,23). BBS canonical non-canonical
MTS: MolarTooth Sign Wnt , (2).
JSRD: Joubert Syn-
drome Related Disor- 3. Sonic-Hedgehog (Shh)
ders Shh
OFD: Orofaciodigital
Syndrome (PTCH1, Patched Homologue 1) (17). PTCH1 ,
MGS: Meckel-Gruber Smoothened (Smo), PTCH1
Syndrome Shh , Smo
JATD: Jeune Asphyxiat- IFT Shh (2,24).
ing Thoracic Dystrophy Shh
EVC: Ellis-van Creveld Gli (Gli1, Gli2, Gli3)(17) ( 2).
Syndrome
SRPS: Short-Rib Poly- 4. mTOR
dactyly Syndrome mTOR
206
,
.
,
,
, (2). -
,
, - ( 3).
(situsinversus),
,
, , ,
, ,
, (8).
,
, , (9).
. Bardet-Biedl (BBS)
,
(26,27). -
,
(28).
,
2:
,
.
(28,29).
lumping splitting ( 4).
. .
1. -- -
MKS1
.
( 1). (Autosomal Dominant MeckelGruber.
Polycystic Kidney Disease, ADPKD Autosomal Recessive Polycystic Kidney Disease, AR-
PKD) , .
(1).
(30). 1
ADPKD 1/400- 2 (PC1 and PC2).
1000, 12.5 (31).
Hedgehog
,
inutero. Hh (hedgehog)
, . Patched
, ,
, . 60 , 50%
(30).
, , -.
207
( 75% 60 ),
CED: Cranioectodermal ,
Dysplasia ( 8%) (32-34).
DDR: DNA Damage
Response 1: - - -
. , PKD1 Polycystin-1
, / , (16p13.3) Polycystin-2
(ADPKD) PKD2
, , (4q22.1)
.
, ,
PC2(39).
,
ARPKD,
(38). PKHD1
(NPHP1,3,4,5 10). Caroli (40). ,
208
PRKCSH SEC
ADPKD , (PCLD,
Polycystic Liver Disease) (41).
, neoplasia in-
disguise
, ,
(40).
( , ane-
uploidy paradox),
,
(40).
, von Hippel-Lindau (vHL
(Tuberous Sclerosis, TSC) (40). H vHL
VHL ,
, (clearcell)
.
(42).
TSC 1:6000
TSC1 TSC2 .
(90%), ,
. TSC , ,
,
(80%)
(43).
TSC Vhl,
mTOR, polycystin-1 (PC1)
tuberin (TSC1/TCS2 complex) G1
. tuberin PC1
mTOR, ,
PC1
(40).
3: T 10
2. - .
(nephronophthisis, NPH)
-
,
( 2).
ESRD
(44). NPH .
,
.
, . ,
,
(situs inversus),
-
,
(40).
H NPH PHP1 (2q13)
nephrocystin-1 (20-40% ) (44). ,
12 PHP XPNPEP3
,
, NPH , ,
Potter .
NPH Senior-Loken ,
,
(40).
.
209
2: -
(NPHP) .
,
Wnt/PCP Shh . (NPHP2)
- Wnt
- ,
PHP3 /
(), - -
( Ivemark) (45).
(Medullary Cystic Kidney Disease, MCKD)
, NPH.
UMOD (uro-
modulin Tamm-Horsfall ),
(40, 44). MCKD
2.
4: :
lumping split-
ting. Enza Maria Valente, 3.
5th Eur. Course in Clinical S -
Dysmorphology, Rome 2013) ,
210
. , ,
, - , (46).
,
- NPH
ARPKD ADPKD , -
- . BBS,
, ,
, .Hirschprung,
(40, 46).
18 BBS o
. 2003 BBS8
.
BBS1 10, MKS1/
BBS13 . eckel-Gruber CEP290/PHP6 (46).
BBS ,
(47).
BBS . Alstrm
, , , ,
( 3).
, .
BBS, . To
ALMS1, ,
(48).
,
(49).
(49).
4. -
Joubert (Joubert Syndrome, JS)
1:100000 . ,
, , -
( 4).
(50).
(CT/MRI)
(molartoothsign, MTS), ,
(50).
MTS
JS, (Joubert Syndrome Re-
lated Disorders, JSRD) (40,51). JSRD PH
. JSRD
, , ,
(51).
13 JS
.
CEP290/NPHP6 50% JS,
JSRD Leber, . Senior-Lken, NPH, .Meckel-Gruber,
BBS (Orofacio digital Syndrome, OFD) (2,51).
CEP290
CEP290,
211
3: -
, GTP -
(RPGR), -4 (PHP4) -8 (NPHP8/RPGRIP1-
L), (52).
JSRD . Meckel-Gruber (MGS)
,
, / ,
(2,53).
, , , /
. CEP290, 8
MGS (null) (53) ( 4).
5.
O IFT
. Jeune,
( 5).
. Jeune (Jeune Asphyxiating Thoracic Dystrophy,
JATD),
,
. - ,
212
4: -
, , -
. ,
. (2).
JATD
ESRD NPH,
,
(29). T ,
IFT80 Bealesetal
(54). IFT80 WDR56 IFT. JATD
,
TTC21B IFT139 IFT, DYNC2H1
-1 -2 NEK1
(54).
JATD . Ellis-van Creveld (EVC) -
,
, -
2/3 . EVC
EVC1 EVC2
Shh (55, 56).
JATD . EVC (I-
213
5: -
214
.
,
(28).
-
(8). ,
,
:
1. (genetic locus heterogene-
ity): .
NPHP1 , truncat-
ing NPHP6/CEP290 GS.
2. (multipleallelism): H truncat-
ing PHP3, NPHP6/CEP290, NPHP8, NPHP11/
MKS3 MGS ,
,
. Joubert(JS).
3. (modifiergenes):
NPHP1, NPHP6
NPHP8 .
4. (true oligogenicity):
BBS, -
,
(8).
,
,
. ,
truncating
,
,
. , MGS
RPKD, .Senior-Lken .
JS (8).
-
127 ,
.
-
. ,
(60).
DNA
Sanger. , (Next-Generation Sequenc-
ing, NGS),
. (multipleal-
lelism), ,
(40).
2003 BBS8,
.
-
,
, .
215
- /
(60).
DNA (DNA Damage Response, DDR).
F423, ATR NEK8/NPHP9 ,
, G2/M
stress (60).
, DDR
, DNA
. ,
DDR
.
,
,
mTOR Cdk
(61,62). ,
. ,
.
.
ADKPD ,
.
(loss-of-function ) / ,
(63).
: 1.
, BBS4
(knock-out), 2. ,
CEP290 zebrafish, 3.
RNA in vitro S1
U1RNA
(splice-donor sites) 4. DNA
(zinc finger nucleases, FN), DNA
. Usher (63).
,
DNA , DNA ,
,
- -(63).
,
,
,
.
1. Badano JL, Mitsuma N, Beales PL, Katsanis N. The ciliopathies: an emerging class of human
genetic disorders. Annu Rev Genomics Hum Genet 2006;7:125-148
2. Waters AM, Beales PL. Ciliopathies: an expanding disease spectrum. Pediatr Nephrol
2011;26:1731-1737
3. Rosenbaum JL, Witman GB. Intraflagellar transport. Nat Rev Mol Cell Biol 2002;3:813-825
4. Salathe M. Regulation of mammalian ciliary beating. Annu Rev Physiol 2007;69:401-422
5. Knowles MR, Daniels LA, Davis SD, Zariwala MA, and Leigh MW. Primary ciliary dyskine-
sia: Recent advances in diagnostics, genetics, and characterizationof clinical disease. Am J Respir
Crit Care Med 2013;188:913922
6. Bettencourt-Dias M, Hildebrandt F, Pellman D, Woods G, Godinho SA. Centrosomes and
216
218
220
E A
15 , 57400,
e-mail: mtsigga@nutr.
: teithe.gr
ADONUT
, , , -
, & ADONUT
ADONUT: , , ,
, , , , ,
, , , -, ,
, , , , ,
, , , , ,
, , , , ,
, , , , , ,
, - , , , ,
, , , , ,
, , , , , ,
, , , , ,
, , , ,
, , , , , ,
, , , ,
, - , - , , &
:
.
15 .
: 3519 3509 15
318 .
(), .
International Obesity Task Force,
Fernandez.
:
(66.1%), 22.1% , 7.3% ,
4.6% .
35.0% 23.6% ,
.
. 9.5%,
10.1% , 9.0%.
.
:
,
15 . &
,
: , , , ,
ORIGINAL ARTICLES
221
Correspondence
Maria Tsigga
Prevalence of simple and abdomi-
Sindos, GR57400, Thes-
saloniki
e-mail: mtsigga@nutr.
nal obesity among 15 year old ado-
teithe.gr
lescents in Greece: results from the
ADONUT study
Maria Grammatikopoulou, Dimitrios Poulimeneas, Konstantina Gerothanasi, Efstratios Kiranas,
Maria Tsigga & ADONUT Study Group
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 re-
cruited 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 of the population among girls in Thrace and Thessaly.
Maria Grammatikopoulou Conclusions: Differences are observed in the weight status tiers between different geographical
Dimitrios Poulimeneas regions of the country, among 15-year-old adolescents. Spatial analysis of the data provide a bet-
Konstantina Gerothanasi
ter approach in highlighting areas in need of intervention.
Efstratios Kiranas
Maria Tsigga
Department of Nutrition Key words: Overweight, obese, waist circumference, Greek, adolescents
& Dietetics, Alexander
Technological Educational
Institute, Thessaloniki
222
, ,
, ,
. , , , ,
, (1).
. ,
() ,
,
, (2,3).
,
. () (4)
11 (2004) ADONUT 2010-12 (5).
,
.
(6), ,
15
.
17.5
15-17 ,
15 (7,8). E,
15
(9).
15 ,
.
3519 3509 15 318
,
. ,
,
(5).
,
()
, / .
(MIS80413).
, ,
.
SECA 874 SECA 214 (Seca GmbH &
Co., Hamburg, Germany).
.
() International Obesity Task Force (IOTF) (10,11).
(12).
National Heart, Lung, and Blood Institutes (13)
Fernandez
223
PASW Statistics 18 (SPSS
Inc., HongKong).
x2, (Prevalence Ratio, PR)
(16,17)
(95% Confidence Intervals).
1
. ,
(3.8%) (PR:0.7, CI:0.6-0.9,p0.001) (6.1%) (R:0.9, CI:0.8-
0.9,p0.001) (26.2%) (PR:1.5, CI:1.4-1.6,
p0.001) (8.8%) (PR:1.5, CI:1.3-1.8, p0.001) .
5.3%,
(71.2%), 17.9% 5.7% . ,
(PR:0.3, CI:0.1-0.7, p0.002)
(PR:2.6, CI:1.2-5.7, p0.016).
, , ,
.
(PR:1.7, CI:1.1-2.7, p0.015, PR:1.7, CI:1.4-2.1, p0.001)
(PR:0.8, CI:0.8-0.9, p0.001), . ,
(PR:0.8, CI:0.6-0.9, p0.002),
(PR:2.1, CI:1.3-3.4, p0.001).
1: , 15-16 ,
N n % 95% CI n % 95% CI n % 95% CI n % 95% CI
192 3 1.6 -0.2-3.3 120 62.5 55.6-69.4 55 28.6 22.2-35.1 14 7.3 3.6-11.0
1636 51 3.1 2.3-4.0 1002 61.2 58.9-63.6 415 25.4 23.3-27.5 168 10.3 8.8-11.7
374 12 3.2 1.4-5.0 238 63.6 58.7-68.5 97 25.9 21.5- 30.4 27 7.2 4.6-9.9
863 52 6.0 4.4-7.6 511 59.2 55.9-62.5 237 27.5 24.5-30.4 63 7.3 5.6-9
3519 135 3.8 3.2-4.5 2150 61.1 59.5-62.7 923 26.2 24.8-27.7 311 8.8 7.9-9.8
224
1: , 15-16 ,
N n % 95% CI n % 95% CI n % 95% CI n % 95% CI
192 11* 5.7 2.4-9.1 125 65.1 58.3-71.9 43 22.4 16.5-28.4 13 6.8 3.2-10.4
1738 95*** 5.5 4.4-6.5 1261*** 72.6 70.5-74.7 295*** 17.0 15.2-18.7 87*** 5.0 4.0-6.0
159 23** 14.5 8.9-20.0 98 61.6 54-69.3 30 18.9 12.7-25.0 8* 5.0 1.6-8.5
334 11 3.3 1.4-5.2 227 68.0 62.9-73.0 82 24.6 19.9-29.2 14 4.2 2.0-6.4
803 28** 3.5 2.2-4.8 577*** 71.9 68.7-75.0 129*** 16.1 13.5-18.6 69 8.6 6.7-10.5
140 9 6.4 2.3-10.5 104** 74.3 67-81.6 21*** 15.0 9.0-21.0 6 4.3 0.9-7.7
3509 185** 5.3 4.5-6.0 2498*** 71.2 69.7-72.7 627*** 17.9 16.6-19.1 201*** 5.7 5.0-6.5
2
. , 9.0% 10.2%
. ,
(PR:0.6, CI:0.4-
0.8, PR:0.4, CI:0.2-0.6, p0.001).
,
, , ,
.
1
, , 15 .
,
27.4-42.9%,
. 11.1-29.2%
.
3
. 7028 15 , 4.6% , 66.1%
, 22.1% 7.3%
. 9.5% ,
4.4% .
( ) (PR:1.6, CI:1.3-2.0,p0.001)
.
1:
(
15 ) ()
(66.1%), 22.1% , 7.3% , 4.6% (), 15-16
,
225
.
9.5%.
2: 15-16
,
N n % 95% CI N N % 95% CI
16 0 0.0 - 9 0 0.0 -
,
35.0%, 23.6%. 12 ,
(4)
15 (35.8%),
(16.4%) ( 4). ,
, . (4),
2003, (18)
15 ,
(25.9 7.6% ).
. ,
.
, 2004, 15
, (19) 25.8% 16.3%
, .
, ...
(20)
,
10-15 , 2002 2010.
, .
,
,
. , ( 1)
. ,
226
32.5%.
,
.
, . ,
31.1%, 28.8%,
, (21) 15-17 (35.5%).
3: ,
N n % 95% CI n % 95% CI n % 95% CI n %
3374 146 4.3 3.6-5.0 2263 67.1 65.5-68.7 710 21.0 19.7-22.4 255 7.6
708 23 3.2 1.9-4.6 465 65.7 62.2-69.2 179 25.3 22.1-28.5 41 5.8
1666 80 4.8 3.8-5.8 1088 65.3 63.0-67.6 366 22.0 20.0-24.0 132 7.9
7028 320 4.6 4.1-5.0 4648 66.1 65.0-67.2 1550 22.1 21.1-23.0 512 7.3
4: , 15-16 ,
() ()
N % % % + N % % % +
(5) 2010-2012 15-16 3519 26.3 8.8 35.1 3509 17.9*** 5.7*** 23.6*** 7
(4) 2003 15-16 2293 30.1 5.7 35.8 2598 14.2*** 2.2*** 16.4*** 4
(19) 2004-2005 15 174 19.5 6.3 25.8 166 15.1 1.2* 16.3
: , : , : , :
* (*** p0.001. *p0.05)
IOTF: International Obesity Task Force,CDC: Centre for Disease Control
227
&
N % % % +
1322 IOTF
1322 CDC
228
IOTF
( 5), 15
.
, , , , , ,
15 20% (22-28,34-35,38).
5: 15 , IOTF (10,11)
()
N % + % N
, , ,
(24) 2000-2 301 4 26.6 340
,
-, ,
(33) 2005 428 - 11.9 485
, ,
: , : , :
229
% + % N % + %
- 22 1986 - 22.0
- 23 429 - 23.9
- 13.0 - -
- 17.2 1521 - -
- 13.8 - -
- 35.9 -
- 11 1969 - 14.1
230
(, , , N, ,
) (29-33,36,37,39-40). , (23)
() (35) 20%.
ADONUT
(5).
(6.3%)
(14.5%). ( 5),
(22),
(23) . ,
(36),
, , (22,24,26,32)
.
,
, (36),
(23), () (38)
(34), .
.
15 , , (42). ,
9.5-14.5, 15
,
,
.
(4,5),
(12, 38, 42).
O 9.5%,
10.1% , 9.0%.
(4), 23.1% 15.6%
,
. ,
(43). ,
,
.
, ,
15
.
(15.2
26.6% ), (8.9
24.0% ).
,
(43). ,
(4,5),
(45). IDF (15),
. ,
4.4% .
, . ,
,
.
15 ,
231
.
15 (45),
.
15 ,
.
,
.
,
.
2015,
.
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38. Baratta R, Degano C, Leonardi D, Vigneri R, Frittitta L. High prevalence of overweight and
obesity in 11e15-year-old children from Sicily. NutrMetabCardiovasc Dis 2006;16:249-255.
39. Currie C, Zanotti C, Morgan A, Currie D, de Looze M, Roberts C, et al, eds. Social determi-
nants 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-being-
among-young-people.pdf, accessed 21 September 2015).
40. Vaezghasemi M, Lindkvist M, Ivarsson A,Eurenius E. Overweight and lifestyle among 1315
year olds: A cross-sectional study in northern Sweden. Scand J Public Health2012;40:221228.
41. Tanner JM. Growth at Adolescence, 2nd ed. Oxford, Blackwell Scientific Publishers, 1962.
42. de Gouw L, Klepp K-I, Vignerov 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;13:17011707.
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;12:6977.
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, Lagstrm H, Pahkala K, Sillanmki 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;99:888895.
234
- 32,
,
72100
e-mail: efi.tavladaki@
gmail.com
. 6945553102
, , , ,
:
, 22
. (,
) , ,
.
-: -
18 , 15 20
SIRS. 27
.
24 ().
:
.
(PosthocanalysesSSvs. H, SIRSvs. H: p<0.001).
(PosthocanalysesSSvs. H,
SIRSvs. H: p<0.004).
(p<0,05)
APACHE II CRP (p<0,05).
:
.
.
: , , SIRS, ,
,
,
,
NeoLab,
ORIGINAL ARTICLES
235
Correspondence
Theonymfi Tavladaki
Early changes of amino acids in criti-
Anapafseos 32, Agios
Nikolaos, Crete, 72100
e-mail: efi.tavladaki@
cal ill children dependent on disease
gmail.com
. +306945553102 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: mino acids show significant variations depending on the severity of the disease
and the inflammatory response to stress. Acute stress dietary interventions with mixtures of ami-
no acids in ICU patients cannot be correctly predicted and can negatively influence metabolism.
()
Theonymfi Tavladaki
,
Anna Maria Spanaki (1).
George Briassoulis (Systemic Inflammatory Response Syndrome, SIRS) (severesepsis/septic-
Paediatric Intensive Care shock, SS) .
Unit (PICU) ,University
Hospital of Crete , ,
,
Helen Dimitriou , (2). ,
Hematology and Oncol-
ogy Laboratory, University
of Crete, Medical School
(3-5)
(6-8).
EvaggelosPapakonstantinou
Neo Lab , thens (9),
(10, 11).
Olav Rooyackers et all
o - (turnover) -
.
, sirs
236
(Energy Expenditure),
,
(9).
(12). ,
(
), ( ), .
22
.
(, ) ,
(CRP).
35
(18 ) 2012
2014 (
IRB). SIRS
SS , SIRS
. 24
.
(Ctl).
(Hitachi Ami-
noacidanalyzerL 8900)
.
135C. 570 440 nm
(570/440).
. 300 l
30 l AEC 35% SSA Ep-
pendorf. o , 30 min
(11.000x g 10 ) . 0.2
m. 140 140 1
(-21) (Vortex).
, 3 .
SD.
3 ANOVA
(SS, SIRS, Ctl) post hoc
. p 0,05
. Microsoft Excel SPSS v20.
.
SS (10 5) SIRS
(1 19) (p<0,001). (SS 4/15, 26%, SIRS
1/20, 5%, p<0,01). SS
SIRS (p<0,05),
237
.
PELOD, APACHE II ,
(TISS) ( 1).
2 3
1:
SIRS P value
4(26,7%) 1(5%)
1 3(20%) 1(5%)
2 8(53,3%) 6(30%)
3 2(13,3%) 12(60%)
1 2(13,3%) 7(35%)
2 2(13,3%) 9(45%)
3 5(33,3%) 4(20%)
4 3(20%) 0(0%)
6 3(20%) 0(0%)
9,27 38,945,9 0,009
()
, sirs
238
. , , , , , ,
(p<0,005), , , (p<0,002), , (p<0,02),
(p=0,05)
(p<0,0001) ( 1).
(p=0,004)
SIRS P value
mol/L N=27 N=15 N=20
1: . -
(Post hoc analyses SS vs. H, SIRS vs. H: p<0.001)
( 2). , ,
, (p=0,03) .
SS SIRS. ,
SS/SIRS (post hoc: p=0,05,p=0,004, ) SIRS
SS (post hoc: p=0,05). ,
3 (p=0,514).
,
2: .
(Post hoc analyses SS vs. H, SIRS vs. H: p<0.004)
, sirs
240
,
( 3).
3: .
(p<0,05). APACHE II CRP (p<0,05)
,
24 . ,
( - CRP).
,
,
.
. ,
(SIRS) ,
- - .
SS/SIRS.
11 (13).
(1).
.
241
, (14,15)
, 1
. ,
(ATP) .
Chiarla (7), Paauw - Davis (16), Boelens (17)
Mechteld A. R. Vermeulen et al (18) 2014
,
,
.
,
.
(19, 20)
(35-50% vs. 10-20%) (21).
.
. SIRS SS
,
(22).
, , ,
,
/SIRS.
(23), .
Tomoya Hirose et al (9) S- (SAM)
.
Alexander Semmleret al (24)
, SAM .
SAM ATP (25). (9)
SAM
ATP
.
SAM,
.
, SS,
. ,
(10). ,
, ,
mtROS (26).
, (10, 11, 27, 28)
, (29),
.
.
- (30).
, ,
(31, 32). Bertolini et al (33)
(34, 35).
. -
, sirs
242
, -
, (HSPs).
in vivo in vitro
(HSP-72), mRNA
.
HSP-70
, (36).
,
,
24.
.
.
(37).
(
)
(),
: . .
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5. Weijs PJM, Wischmeyer PE. Optimizing energy and protein balance in the ICU. Curr Opin
Clin Nutr Metab Care. 2013 Mar;16(2):194201.
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245
246
- A
. 196,
A, 11521
e-mail: ekornarou@esdy.
. edu.gr
. 2132010383,
2132010385
, , ,
: ,
.
: H
.
: , , 96
,
, 5/2013 12/2013.
SPSS.
: 70 (72,9%) .
77,9% 40 . 60%
9 . 61,4% 90%
. ,
, , , /
, . (78,6%)
. H
.
:
,
- .
, .
: ,
ORIGINAL ARTICLES
247
Correspondence
Kornarou Eleni
Networks of primary care and wel-
lexandras Av. 196, Ath-
ens, 11521
e-mail: ekornarou@esdy.
fare for deaf primary school children.
edu.gr
. +302132010383, Parents satisfaction
+302132010385
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 par-
ents 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 chil-
dren/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
childs hearing problem was tracked and from the parents educational level; regardless of wheth-
er 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 adult-
hood from official care networks were considered necessary.
,
(1). ,
, ,
, , ,
Bredaki Maria , -
Ktena Danai (2,3).
Kornarou Eleni ,
National School of Public ,
Health, Department of , -
Epidemiology and Medi- (4,5,6).
cal Statistics , , ,
(7).
Barbouni Anastasia
National School of Public
,
Health, Department of , (4,8,9,10).
Public Health
248
.
, , ,
, ,
, , , .
,
,
96 ,
.
,
.
2013 2013.
, ,
1 5,
/ /.
:
1. , , ,
, , , , .
2. / (, ,
).
3. ,
, ,
.
4. , , -
, .
5.
.
6. , -
, , .
70 - (72,9%).
77,9% 22,1% .
40,75 , 7,14 .
30 56 .
66,7% , 21,7% , 5,8% 5,8%
.
52,9% , 24,3% , 18,6% 4,3% .
55,7% , 18,6% ,
15,7% 10% (, ).
, 48,6% , 32,9% , 12,9%
1,4% . ( 1)
, 60,0% 40,0% .
, 49,3% , 33,3%
17,5% .
61,4% , 35,7% 2,9%
( 2).
249
1: -
(%)
53 77,9
70 40,8
46 66,7
37 52,9
39 55,7
34 48,6
23 32,9
2:
(%)
42 60,0
1. 31 49,2
2. 21 33,3
1. 43 61,4
2. 25 35,7
25 , 22
3 .
15,3 15 .
0 48 .
1,3 1,2 .
0 2 .
9,15 3,23
. 4 15. ,
14,93
19,59 . 96 .
, 17,43
20,58 . ,
33,12
22,32 . 4 72 .
& . ,
15,7%
.
250
, 91,3% , 40,6%
, 23,2% , 11,6% 1,4%
. ( 3)
3:
% %
6 8,7% 63 91,3%
41 59,4% 28 40,6%
53 76,8% 16 23,2%
61 88,4% 8 11,6%
68 98,6% 1 1,4%
, 34,3% . 58,3%
, 20,8%
, 12,5%
8,3% .
90,0% . 65,1%
,
, 3,2% , 15,9%
15,9% .
- ,
.
.
: 1= , 2= , 3= , 4= , 5=
.
.
,
& , , ,
.
. ( 4)
/
. .
, ,
,
. ( 4)
, , .
,
,
. ,
. ( 4)
251
4: * ,
/ N N N
(.. ) 61 4,08 52 3,42 50 4,58
&
54 2,57 39 3,15 43 2,63
(.. -) 51 2,57 46 2,20 48 1,90
51 2,80 39 3,44 46 2,48
(. -)
* : 1= , 2= , 3= , 4= , 5=
,
.
( 5)
5: *
,
.
-
, ,
()
20 31,4 7,61163
16 32,93 9,20484
.
18 29,66 5,73944
* : 1= , 2= , 3= , 4= ,
5=
252
78,6%
, 8,6% & ,
77,1% , 2,9% 2,9% . ( 6)
6:
;
(%)
55 78,6
6 8,6
5 7,1
2 2,9
2 2,9
70 100,0
57,1% , /
- , , 27,1%
, 7,1% , 5,7% 2,9%
. ( 7)
7:
;
(%)
/ - 40 57,1
- 5 7,1
- / 19 27,1
4 5,7
2 2,9
70 100,0
,
,
,
.
, p=0.06,
p=0.004 p=0.015.
, .
253
(p=0.111),
(p=0.36) (p=0,49).
(p=0.02)
(p=0.02) (p=0.01),
(p=0.114).
.
-
(p=0.64), (p=0.48)
(p=0,54 ).
(p=0.49),
(p=0.609) (p=0.54).
-
.
57,6%
-
, 68,2%
,
18,6% ( ,
, ,
, ,
).
, 60,7% -
-
.
10% , .
&
. ,
, . , -
, , -
, ,
,
.
, , /
.
, .
.
, , .
254
, &
, , .
/ - , , ,
.
.
, ( & )
.
,
.
(1999),
( - ) ( - ),
Hightower
Cowen (1984). 18 (items) ,
.
,
, .
90%
: 65,1% ,
, 3,2% , 15,9%
15,1% .
,
, , /
. ,
& ,
.
.
,
. .
, ,
,
.
,
, .
, ,
, .
,
,
- .
,
.
1. , , , -
.. , .
255
,
.
2. ,
,
. -.
3.
, -
.
4. , -
, (, , ..)
.
1. . (1998)
. :
2. Bat-ChavaY (2000) Diversity of deaf identities. American Annals of the Deaf 145:420-428.
3. Northern J. L., & Downs, M. P. (1978). Hearing in children (2nd Ed.). Baltimore: Williams
& Wilkins.
4. Clymer E. (1995). The psychology of deafness: Enhancing self concept in the deaf and hear-
ing impraired. Family Therapy, 22, 113-120.
5. Jambor E., Elliott M. (2005). Self-esteem and Coping Strategies among Deaf Students, jour-
nal of Deaf Studiesand Deaf Education, 10, 63-81.
6. Triantis H.,C. (1996). The psychological measurement of cultural syndromes. American Psy-
chologist, 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). Cam-
bridge: CambridgeUniversityPress.
9. . (2003),
, .
10. . . (2013). ,
http://prosvasi.uoa.gr
256
- A
-
,
deferasirox
,
e-mail: mmoschov@med.
uoa.gr
. 2107452132
, , , , -
, , ,
:
.
,
,
.
: def-
erasirox, .
: 252 . 53 -
Deferasirox .
- .
,
. deferasirox 8 (SD:4,6.
:0.4-19.2).
: , ,
.
-10,8 mg/L, (p=0,02), -92,8
mg/L (p<0,001).
-82 mg/L (p<0,001).
.
deferasirox.
: 1) . 2) deferasirox
.
3) .
: , , , , -
,
-
,
,
-
,
ORIGINAL ARTICLES
257
Correspondence
Moschovi Maria
relapse and effective prevention
Aghia Sofia Childrens
Hospital Hematology-
Oncology Unit, First
of complications of secondary he-
Department of Pediatrics,
University of Athens, mosiderosis with iron chelation with
Aghia Sofia Childrens
Hospital, Athens
e-mail: mmoschov@med. deferasirox in childhood malignan-
uoa.gr
. +302107452132
cies
icaela Nicolaou, Yiouli P. Ktena, Archontis Zampogiannis, Anastasia Athanasiadou, Spiros Vlaho-
poulos, George Lambrou, Maria Adamaki, Maria Moschovi
Summary
Introduction: Secondary iron overload often occurs in childhood malignancies, due to the mul-
tiple blood transfusions during therapy. Iron overload causes adverse effects but the iron mobi-
lization 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.
icaela Nicolaou
Yiouli P. Ktena
Keywrds: secondary hemosiderosis, iron chelation, Deferasirox, complications, relapse, child-
Archontis Zampogiannis hood malignancy
Anastasia Athanasiadou
Spiros Vlahopoulos Acknowledgements
George Lambrou
The authors express their acknowledgements to the children and their parents who agreed to partici-
Maria Adamaki
Maria Moschovi
pate in this study.
Hematology-Oncology There was not any funding for the use of Deferasirox in this study.
Unit, First Department
of Pediatrics, University
of Athens, Aghia Sofia
-
Childrens Hospital
(1).
258
.
,
.
,
.
Per Os Deferasirox.
,
,
.
.
, 1)
, 2)
3)
(2, 3).
Desferasirox, Desferasirox, -
.
-
252
, 53
.
deferasirox. : ()
, ()
, ()
, () [ > 2500mg/L
(MRI 2 )]
6
.
,
.
.
20 mg/kg/ 30 mg/kg/
,
3 .
.
.
, , defera-
sirox. , ,
SGOT SGPT, - (-GT), (ALP),
. : : 10 -150 mg/L, : 10-35
mg/dL, : 0,2-1,0 mg/dL, SGPT: 10-60 U/L, SGOT: 5-45 U/L, -GT: 2-50 U/L,
ALP: 60-240 U/L, (TB) <1,0 mg/dL (DB) <0,3 mg/
dL. 8 ,
4 .
259
MRI (RI 2 ) .
, ,
(4). ,
, ,
.
-
.
Stata 11 (StataCorp., College Sta-
tion, TX).
. ,
. ,
deferasirox.
260
deferasirox
. (1/53)
( ) ,
.
(1/53), (76 mg/dL)
(1,94 mg/dL), 4,8 deferasirox 20 mg/kg/d ( 314 mg/L
).
: 1100 mg/dL 34 mg/dL,
1,0 mg/dL AST 20 U/L, ALT 19 U/L, -GT13 U/L, ALP 411 U/L, 0,8 mg/
dL. deferasirox , ,
49 mg/dL 0,83 mg/
dL.
deferasirox,
( ).
,
. 4
deferasirox 20 mg/kg/d.
, de-
ferasirox, .
, 51 deferasirox 7,0
(SD=4,3. , 2,4 - 18,2). 2
.
2450 950 mg/L, .
385 mg/L, 24 .
51 ,
1901 mg/L (SD:833. :1100-3900)
deferasirox 1517 mg/L (SD:880. :687-3500).
deferasirox 7 (SD:4,3. :2,4-18,2).
deferasirox 500- 600 mg/L
.
, 18 ,
, 3.500 1.550 mg/L.
deferasirox, 606 mg/L (SD=394
mg/L. , 270-1550). -10,8
mg/L [95% CI), 19,8 1,8. = 0,02], -93,8 mg/L
deferasirox (95% CI, 118,1 69,1. <0,001).
-82 mg/L (95% CI, 111,6 53.9 <0,001).
,
.
: () .
,
1.000 mg/L () ,
,
(5).
MRI.
2800
mg/L. 4,4 deferasirox,
, 547
mg/L.
, 2900 mg/L. 5,8
728 mg/L.
MRI 1430
261
1:
, n 252
138 55%
53 38%
- 7:6
,
51% ,
, ,
()
- ,
49%
2.37-16.31
687-3500
, n(%) 53
16/53
23/53
14/53
3.8-9.4
, 50
mmoL/g 205 (81)
(SD), <36
90-350
0/53
RI T2 (SD),
34.1 (5.8)
>22, ms
25.6-43
55-71
262
.
, .
,
.
,
, (6,7).
, .
,
. ,
Deferasirox.
,
, ,
(8-12). ,
,
.
.
.
, deferasirox
.
.
T Deferasirox ,
,
.
,
. Deleas E. T. et al,
Deferasirox,
(13).
,
,
.
, ,
.
.
263
. ,
(3,14).
Defera-
sirox . Ohysashiki et. Al., Deferasirox
Hann HW et al.
(15,16). Jeon SR et al.
Deferasirox (17).
.
,
.
,
.
, .
Deferasirox . , -
,
, .
, /
. ,
,
.
deferasirox ,
.
.
.
.
1. Ruccione, K.S., Midambi K, Sposto R et al., Association of projected transfusional iron bur-
den 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.
264
266
score A
,
11527
e-mail: alpassal@yahoo.gr;
alpassal@gmail.com
. 2132009221
, , -,
: -
PAS (Paediatric appendicitis score) - Score 4-7 -,
, 9 ,
PAS.
-: 39 4-15
PAS,
9 ( 2014 - 2015).
.
. Score
.
:
97,1% (P<0,05), 25% (P<0,05), 91,8%
(P<0,05) 50% (P<0,05).
: -
,
PAS.
: , , ,
PAS
&
,
-
&
,
ORIGINAL ARTICLES
267
Correspondence
Alexandros Passalidis
prospective evaluation new scoring
Thivon & Livadias,11527
e-mail: alpassal@yahoo.gr;
alpassal@gmail.com
system for diagnosis of acute appen-
. +302132009221
dicitis in children
Adelais Tzortzopoulou, Panagiota Giamarelou, Aikaterini Michail-Strantzia, Alexandros Passalidis
Abstract
bjective: 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 ac-
cording 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, ac-
cording 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 pedi-
atric patients with acute appendicitis, that initially appear with unclear clinical symptoms and
are classified in the gray area of PAS.
.
,
(1-3).
,
, .
Adelais Tzortzopoulou (Diadnostic gold standard),
Alexandros Passalidis
Second Department of : Alvarado Score Samuels Pediatric Appendicitis Score
Pediatric Surgery, Pana- (PAS) (4,5).
giotis & Aglaia Kyriakou PAS Samuel 2002
Childrens Hospital,
Journal of Pediatric Surgery.
Athens
Panagiota Giamarelou . 1.
Aikaterini Michail- score 1 3 PAS
Strantzia , 8 10 PAS
Department of Pathology, . 4 7 PAS
Panagiotis & Aglaia Kyri- follow up
akou Childrens Hospital, .
Athens
(6-8).
score
268
Sign/Symptom Points
/
Anorexia
1
Nausea/emesis
1
/
Leucocytosis (>10000/mm3)
1
( >10000/mm3)
,
, 9 - .
,
6
,
PAS (9,10,27,28).
,
& 9
( 2014 2015).
215 , 4 15 ,
PAS. PAS
( PAS 4-7), 39 , 23 16 ,
.
, ,
.
, PAS
.
: 1. 6 , 2.
269
2:
6 1
> 37,5, 1
Mc Burney 2
Rovsing 2
:
. > 10
1 1
. < 10
2
,
,
,
. ,
1-8 10
(11,25,28,30).
, ,
.
: .
, .
. .
(23,29).
score
270
39 -, 23 16
3 15 , 9 (
2014 2015).
PAS (4-7 score).
2 (5,2%) score
<6, . 37 (94,8%) score
>6, .
, 35 -
/ . , score <6 o
.
score >6 7 (18,9%),
27 (73%) 3
(8,1%). 7
1 (4,6,7).
.
ROC (Receiver Operating Characteristic curve)
100% 100%.
1.
1: ROC
/ -
- PAS
97,1%, 25%, 91,8%
50%. 1 ,
(0,75, 0,971)
(0,1).
ROC, ,
ROC.
271
,
.
, ,
PAS
(9,28,31).
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