Greek
Neonatal Society: Guidelines for management of hyperbilirubinemia in infant’s gestational age 35 weeks or more
D.
Konstantinou 1, A.
Hyperbilirubinemia is the most common neonatal problem which requires medical intervention in order to avoid neonatal encephalopathy and/or kernicterus, both rarely seen. Since the management of hyperbilirubinemia is not evidence based, guidelines for its management differ between countries. A lack of guidelines in Greece resulted in unnecessary treatment of jaundiced babies without justification, fearing bilirubin increase and the wrong aspect that prophylactic phototherapy can improve the final outcome. In order to establish a common and logical management program for neonatal jaundice in our country, a working team of neonatologists appointed by the Greek Neonatal Society established these guidelines, based on management protocols from other countries. Thus, we expect the same management of neonatal jaundice from all pediatricians, using common guidelines and minimizing or eliminating unnecessary medical interventions. In addition we will strive to avoid the unnecessary interruption of breast feeding of jaundiced infants.
Key words: Neonatal Jaundice, Hyperbilirubinemia, Guidelines
Varvarigou 2, A. Daskalaki 3, E. Diamanti 4
Αλληλογραφία
37-39, 15123 Μαρούσι,
e-mail: dikoxr@otenet.gr
Correspodence
Dimitris Konstantinou
NICU IASO Maternity Hospital, Kifissias Av 37-39, 15123 Maroussi, Athens, Greece
e-mail: dikoxr@otenet.gr
(USA: AAP 2004 (1), CANADA 2007 (2), ISRAEL 2008 (3), UK: NICE 2010(4), ΝΟRWAY 2011(5),
Κατάλογος Συντομογραφιών
BΓ
ΗΚ
Φ/Θ
Hb
νόσος (πχ, ανεπάρκεια G6PD)
• Αποκλειστικός ΜΘ με απώλεια >10% του βάρους γέννησης (ΒΓ)
• Πολυερυθραιμία, κεφαλαιμάτωμα,
• Κλινική εικόνα
λήθαργος, αστάθεια θερμοκρασίας
• Υποξία, οξέωση, αφυδάτωση, υπολευκωματιναιμία
(16).
1. Management of Hyperbilirubinemia in the Newborn Infant 35 or More Weeks of Gestation, Subcommitee on Hyperbilirubinemia, Pediatrics 2004;114:297-316.
2. Barrington KJ, Sankaran K. Canadian pediatric society. Guidelines for detection, management and prevention of hyperbilirubinemia in term and late preterm newborn infants, Paediatr Child Health 2007;12(Supl B): 1B-12B.
3. Kaplan M, Merlob P and Regev R. Israel guidelines for the management of neonatal hyperbilirubinemia and prevention of kernicterus. J Perinatol 2008;28:389-387.
4. National Collaborating Centre for Women΄s and Children΄s Health, Neonatal Jaundice, National Institute for Health and Clinical Excellence, Clinical Guidelines for the NHS by NICE, May 2010.
5. Bratlid D, Nakstad B, Hansen TW. National guidelines for treatment of jaundice in the newborn. Acta Paediatr. 2011;100(4):499-505.
6. Μaisels MJ, Kring E. Transcutaneous bilirubinometry decreases the need for serum bilirubin measurements and saves money. Pediatrics 1997 Apr;99(4):599-601.
7. Roubatelli FF, Gourley GR LoskampN et al, Transcutaneous bilirubin measurement: a multicenter evaluation of a new device. Pediatrics 2001 Jun;107(6):1264-71.
8.
9. Maisels J and McDonagh AF, Phototherapy fon Neonatal Jaundice, N Engl J Med 2008;358:920-8.
10. Maisels MJ, Bhutani VK, Bogen D, Newman TB, Stark A, Watchko JF. Hyperbilirubinemia in the Newborn Infant ≥ 35 Weeks Gestation: An Update with Clarifications. Pediatrics 2009;124:1193-1198.
11. Newman TB, Liljestrand P, Jeremy RJ, Ferriero D, Wu Y, Hudes E et al, Outcomes among Newborns with Total Serum Bilirubin Levels of 25 mg per Deciliter or More, N Engl J Med 2006;354:1889-1949.
12. Bhutani VK, Johnson L, Sivieri EM. Predictive ability of a predischarge hour-specific serum bilirubin for Subsequent significant hyperbilirubinemia in healthy term and nearterm newborns, Pediatrics 1999 ;103 : 6-14.
13. Varvarigou A, Fouzas S, Skylogianni E, Mantagou L, Bougioukou D, Mantagos S. Transcutaneous bilirubin nomogram for prediction of significant neonatal hyperbilirubinemia. Pediatrics 2009; 124: 1052-59.
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16. ABM Clinical protocol 22: Guidelines for management of jaundice in the breastfeding infant equal to or greater than 35 weeks gestation. The Academy of breastfeeding medicine protocol committee. Breastfeeding medicine 2010;5(2):87-93.
17. Ostrow JD, Pascolo L, Shapiro SM, Tiribelli C. New concepts in bilirubin encephalopathy. Eur J Clin Invest Review 2003 Nov;33(11):988-97.
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19. Gourley GR, Kreamer B, Cohnen M, Kosorok MR. Neonatal jauntice and diet. Arch Pediatr Adolesc Med. 1999 Feb;153(2):184-8.
20. Hulzebos CV, van Imhoff DE, Bos AF, Ahlfors CE, Verkade HJ, Dijk PH. Usefulness of the bilirubin/albumin ratio for predicting bilirubin-induced neurotoxicity in premature infants. Arch Dis Child Fetal Neonatal Ed. 2008 Sep;93(5):F384-F388.
21. Ahlfors CE, Amin SB, Parker AE. Unbound bilirubin predicts abnormal automated auditory brainstem response in a diverse newborn population. J Perinatol 2009 Apr;29(4):305309. Epub 2009 Feb 26.
22. Gottstein R and Cooke RWI. Systematic review of iv immunoglobulin in haemolytic disease of the newborn. Arch Dis Child Fetal Neonatal Ed 2003;88:F6-F10.
A. Mavroudi
I. Xinias
3rd Pediatric Department, Aristotle University of Thessaloniki, Ippokratio-General Hospital of Thessaloniki
Food allergy in infancy and childhood: diagnosis, management and future approaches
A. Mavroudi, I. Xinias
Food allergy is common in childhood affecting up to 8% of children less than 3 years of age. Food induced allergic reactions are responsible for a variety of symptoms involving the skin, the gastrointestinal and the respiratory tract, caused by IgE-mediated or/ and non-IgE-mediated mechanisms. Allergic eosinophilic gastroenteritis is characterized by eosinophilic infiltration of the gastrointestinal tract, and most patients have multiple food allergies.In case of multiple sensitivities a period of strict elimination followed by careful reintroduction of foods, one after the other can help to establish foods that are to be avoided.Oral food challenges are invaluable in the appropriate diagnosis and management of patients with food allergy. Once the diagnosis of food hypersensitivity is established, the only proven therapy is strict elimination of the offending allergen. Injectable epinephrine and oral antihistamines should be readily availible at all times to treat patients, who are at risk of acute severe food induced anaphylaxis. Several novel immunoterapeutic strategies are being examined as treatment modalities for IgE-mediated food allergy, such as humanized anti-IgE monoclonal antibody therapy, engineered allergen protein immunotherapy, peptide immunotherapy. Currently, the treatment of
Αλληλογραφία
Αντιγόνη Μαυρουδή
Σπύρου Λούη 66, 543 52, Πυλαία, Θεσσαλονίκη
Τηλ: 2310909632
Fax: 2310992981
Κιν: 6976718209
e-mail: antigonemavrudi@gmail.com
Correspodence
Antigoni Mavroudi
Spirou Loui 66 St., 543 52, Pilea, Thessaloniki
Tel: +302310909632
Fax: +302310992981
Mob: +30 6976718209
e-mail: antigonemavrudi@gmail.com
food allergy is directed to the complete avoidance of the offending food allergens and it’s success is depended on the correct identification of the allergens and their complete exclusion from the diet.
Key words: Food allergy, eosinophilic gastroenteritis, food challenges, anaphylaxis, children.
- Γαλακτοζαιμία
- Φαινυλοκετονουρία
- Λοίμωξη
- Δυσκοιλιότητα
- Νόσος του Hirschprung
Νήπια
- Λοίμωξη
- Γαστροοισοφαγική παλινδρόμηση
- Δυσκοιλιότητα
- Δυσανοχή στη λακτόζη
- Δυσαπορρόφηση (κοιλιοκάκη, κυστική ίνωση)
Παιδιά σχολικής ηλικίας
- Λοίμωξη
- Υποτροπιάζων κοιλιακό άλγος
- Δυσανοχή στη λακτόζη
- Δυσαπορρόφηση (κοιλιοκάκη, κυστική ίνωση, σύνδρομο Schwachman)
- Φλεγμονώδης νόσος του εντέρου
- Άλλα αίτια (ανοσοανεπάρκεια, πορφύρα Henoch-Schönlein)
1. Mary V. Lasley. Adverse reactions to foods. Nelson Essentials of Pediatrics, 5th ed. Philadelphia. Elsevier Saunders Co; 2006. p 419-421.
2. M. Thirumala Krishna, George Mavroleon, Stephen Tholgate. Food Allergy. Essentials of Allergy, United Kingdom: Martin Dunitz Ltd ;2001 p107-127.
3. S. Allan Bock, Hugh A. Sampson. Evaluation of Food Allergy. Pediatric Allergy: Principles and Practice. USA: Elsevier’s Health Sciences ;2003 p 478-487.
4. Ronina A. Covar, Joseph D. Spahn, Stanley J. Szefler. Special Considerations for Infants and Young Children. Pediatric Allergy: Principles and Practice. USA Elseviers Health Sciences; 2003 p 379-391.
5. Sampson HA, Anderson JA: Summary and recommendations: classification of gastrointestinal manifestations due to immunologic reactions to foods in infants and young children.J Pediatr Gastroenterol Nutr 2000 ;30(Suppl): S87-S94.
6. Kelly KJ: Eosinophilic gastroenteritis. J Pediatr Gastroenterol Nutr 2000;30 (Suppl): S28-S35.
7. Takafuji S, Bischoff SC, De Weck AL, Dahinden CA. IL-3 and IL-5 prime normal human eosinophils to produce leukotriene C4 in response to soluble agonists. J Immunol 1991;147: 3855-3861.
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10. Hill DJ, Hosking CS, Reyes-Benito MLV: Reducing the need for food allergen challenges in young children: comparison of in vitro with in vivo tests. Clin Exp Allergy 2001;31: 1031-1035.
11. Rance F, Juchet A, Bremont F, et al. Correlations between skin prick tests using commercial extracts and fresh foods, specific IgE and food challenges. Allergy 1997;52: 10311035.
12. Lockey RF: Adverse reactions associated with skin testing and immunotherapy. Allergy Proc 1995; 16:293-296.
13. Sampson HA: Utility of food-specific IgE concentrations in predicting symptomatic food allergy. J Allergy Clin Immunol 2001;107: 891-896.
14. Arvola T, Holmberg-Marttila D: Benefits and risks of elimination diets. Ann Med 1999; 31: 293-298.
15. Liu T, Howard RM, Mancini AJ, Weston WL, Paller AS, Drolet BA,et al. Kwashiorkor in the United States: fad diets, perceived and true milk allergy, and nutritional ignorance. Arch Dermatol .2001;137: 630-636.
16. Liacouras CA, Markowitz JE: Eosinophilic esophagitis: A subset of eosinophilic gastroenteritis. Curr Gastroenterol Rep . 1991;1: 253-258.
17. Bock SA, Munoz-Furlogn A, Sampson HA: Fatalities caused by anaphylactic reactions to foods. J Allergy Clin Immunol 2001;107: 191-192.
18. AAAAI Board of Directors. Anaphylaxis in schools and other child-care settings. J Allergy Clin Immunol.1998;102: 173-176.
19. Beyer K, Eckermann O, Hompes S, Grabenhenrich L& Worm M. Anaphylaxis in an emergency setting-elicitors, therapy and incidence of severe allergic reactions. Allergy 2012; 67: 1451-1456.
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21. Nowak-Wegrzyn A, Sampson H. Future Therapies for food Allergies. J Allergy Clin Immunol 2011; 127: 558-573.
Evangelia Stefanaki1
2nd Pediatric Department, Venizelion General Hospital, Heraklion
Stavroula Giavi2
Savvas Savvatianos2
Nikolaos Douladiris2
Emmanouel Manousakis2
Nicolaos Papadopoulos2
Allergy Department, 2nd Pediatric Clinic, University of Athens, Children’s Hospital “P & A Kyriakou”
Food protein induced enterocolitis syndrome: an unusual type of food allergy
Evangelia Stefanaki1, Stavroula Giavi2, Savvas Savvatianos2, Nikolaos Douladiris2, Emmanouel Manousakis2, Nicolaos Papadopoulos2
Food protein induced enterocolitis syndrome-FPIES-is an unusual T-cell mediated gastrointestinal food hypersensitivity reaction. It begins in the first months of life either progressively with emesis, diarrhea and failure to thrive or with acute emesis with or without diarrhea after first ingestion of food. Symptoms resolve after the causal protein is removed from the diet but recur with a characteristic way on re-exposure. Milk, soya and rice are the most common causes of FPIES. Imbalance in expression TNF-α και TGF-β may be important in the pathophysiology of FPIES. Natural history of FPIES differs according to the population. Increased index of suspicion will lead to early diagnosis and treatment. Key-words: Food allergy, enterocolitis, milk, soya, rice
Αλληλογραφία Στεφανάκη Ευαγγελία Καρυωτάκη 22,71409 Ηράκλειο, Κρήτη
Τηλ: 2810210140
e-mail: evangeliastefanaki@yahoo.gr
Correspodence
Stefanaki Evangelia
22, Kariotaki St.,71409 Heraklion, Crete Tel: +302810210140
e-mail: evangeliastefanaki@yahoo.gr
Κατάλογος Συντομογραφιών
FPIES = Food protein induced enterocolitis syndrome-Εντεροκολίτιδα από πρωτεΐνη
SPT = Skin Prick Test-Δερματική
APT = Atopy Patch Test-Επιδερμιδική
TNF-α = Tumor Necrosis Factor-α
TGF-β = Transforming Growth Factor -β
IgE,IgA, IgG = Ανοσοσφαιρίνες Ε, Α,G
(Salmonella, Shigella,
Campylobacter, Yersinia sp, parasites)
N. Hirschsprung
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Abstract
Aggeliki Skardoutsou
2nd Department of Pediatrics, University of Athens, Aglaia Kyriakou Children’s Hospital, Athens, Greece
Attention
deficit
hyperactivity
disorder: a review of the essential facts
Aggeliki Skardoutsou
Attention deficit hyperactivity disorder (ADHD) is a complex disability: both genetic and environmental influences make a substantial contribution to the risk for the disorder. Comorbidity with learning disabilities, oppositional defiant and conduct disorders and mood and anxiety disorders is common in children and adults with this disorder and are associated with adversive academic and vocational outcomes and tremendous stress to families. Medication with dopaminergic and noradrenergic activity seems to reduce ADHD symptoms by blocking dopamine and norepinephrine reuptake.
The aim of this review is to provide clinicians with a brief synopsis of the current understanding about the etiology of ADHD, co-morbidity and associated problems, developmental course and intervention options. Parents’ understanding about the current data increases their consent to intervention, and the adherence to psychosocial and pharmacological treatment.
Key words: Attention deficit - hyperactivity disorder, co-existing problems methylphenidate, atomoxetine, children.
e-mail: aggskard@uoa.gr
Correspodence
Aggeliki Skardoutsou
2nd Department of Pediatrics, University of Athens, “P& A Kyriakou” Children’s Hospital, Goudi, 115 27, Athens, Greece
e-mail: aggskard@uoa.gr
(Strattera)
(Catapres)
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Panagiota Triantafyllou
Charikleia Chatzisevastou
1st Department of Pediatrics, Aristotle University of Thessaloniki, Hippokratio Hospital, Thessaloniki
Genetics in Diabetes Mellitus type 1
Panagiota Triantafyllou, Charikleia Chatzisevastou
During the last years there has been dramatic progress in understanding the genetics, the autoimmune mechanisms and natural history of diabetes mellitus type 1. Genomewide association studies have shown that there are at least four major and few minor genetic loci associated with the risk of diabetes type 1. Genes within HLA region seems to play the most important role, whereas, genes outside the HLA region may also contribute to the risk but their role is much less important. The majority of these loci appear to affect the immune system and the activation of T-cells, in particular. Elucidating the actual way that the products of these loci function could contribute in the understanding of how they affect the risk of diabetes type 1. Furthermore, these findings may improve our ability to predict and prevent diabetes type 1 through clinical applications.
Key-words: diabetes mellitus type 1, autoantibodies, genetic analysis
Αλληλογραφία
Παναγιώτα Τριανταφύλλου
Αντιστάσεως 16, Τ.Κ. 53351,
Θεσσαλονίκη
Τηλ: 2310440100
e-mail: ptriantafyllou@yahoo.com
Correspodence
Panagiota Triantafyllou 16 Ethn. Antistaseos str, GR 53351, Thessaloniki, Greece
Tel: +302310440100
e-mail: ptriantafyllou@yahoo.com
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rs2269241
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Γ.
Abstract
Dysmetabolic syndrome manifestation is not related with therapy stages in acute lymphoblastic leukemia of childhood
E. Koultouki1, G. Trimis1, G. Lambrou1, M. Tsotra1, N. Tourkantoni1, K. Karamolegou1, M. Adamaki1, J. Papassotiriou2, G. Chrousos3, F. Tzortzatou-Stathopoulou1, M. Moschovi1
Background: Survivors of childhood cancer have an increased probability to present dysmetabolic syndrome (DS). Purpose of this study was to investigate the presence of DS in patients who undergo treatment for acute lymphoblastic leukemia (ALL) of childhood.
E. Koultouki1
G. Trimis1
G. Lambrou1
M. Tsotra1
N. Tourkantoni1
K. Karamolegou1
M. Adamaki1
F. Tzortzatou-Stathopoulou1
M. Moschovi1
Haematology-Oncology Unit, 1st Department of Pediatrics, University of Athens, “Aghia Sophia” Children’s Hospital
J. Papassotiriou2
Department of Biochemistry, “Aghia Sophia” Children’s Hospital
G. Chrousos3
Endocrinology, Metabolism and Diabetes Units, First Department of Pediatrics, University of Athens, “Aghia Sophia” Children’s Hospital
Εισαγωγή
Αλληλογραφία
Ελευθερία Κουλτούκη
Θηβών & Λειβαδίας, 115 27, Αθήνα.
Τηλ. 2107467604, 6947193193 Fax: 2107759167
e-mail: lorikoultouki@hotmail.com
Correspondence
E. Koultouki MD PhD
Thivon & Livadias, 115 27, Athens Tel. 2107467604, 6947193193 Fax: 2107759167
e-mail: lorikoultouki@hotmail.com
Patients and Methods: The study included 48 patients with ALL (33 males, 68.7%) with a median age of 3.88 years (range 0.37-13.97). Measurements were done at diagnosis and in time intervals up to the end of therapy (9 measurements in 3 years).
Results: During chemotherapy, no DS criteria (obesity, hypertriglyceridemia, hyperinsulinemia, reduced HDL-cholesterol and hypertension) were detected in any patient. Values of these parameters were not correlated with treatment stages; however there was an increasing trend of body mass index (BMI) during therapy (till the end of follow-up) and a temporal increase of triglycerides together with a temporal decrease of HDL-cholesterol after the first cycle of therapy (up to 6 months), without overcoming the statistical significance.
Conclusions: Young survivors of childhood ALL are at risk for obesity, insulin resistance, dyslipidemia, hypertension and, finally, full DS installation, several years after the completion of therapy, without being evident during therapy, up to its completion (3 years). DS development soon after the end of chemotherapy and trends of increase or decrease of these markers during therapy indicate the need of individual approach and treatment of children with ALL, in order to prevent DS development.
Key words: children, leukemia treatment, dysmetabolic syndrome.
CI 95%, 0±0.13),
(CI 95%, 28±1.79), ~60 ημέρες μετά τη διάγνωση (CI 95%, 60±3.94), ~6 μήνες μετά τη διάγνωση (180 ημέρες, CI 95%, 180±6.77), ~1 έτος μετά τη διάγνωση (365 ημέρες, CI 95%, 365±6.45), 1,5 έτος μετά τη διάγνωση (547 ημέρες, CI 95%, 547±10.52), ~2 έτη μετά τη διάγνωση (730 ημέρες, CI 95%, 730±34.95), 2,5 έτη μετά τη διάγνωση (912 ημέρες, CI 95%, 912±72) και ~3 έτη μετά τη διάγνωση (1095 ημέρες, CI 95%, 1095±107.6). Οι ασθενείς είχαν λάβει
HOPDA (Haematology/Oncology Paediatric Department of Athens University) (HOPDA97) (2,12). Υπήρξε
Behring, Liederbach,
town, NY, USA).
luminescence’s
(Bayer Corporation, Tarry
(Nichols Institute Diagnostics, CA, USA).
HPLC (HA8121 HPLC system, Arkray Inc, Kyoto, Japan).
(homeostasis model assessment, HOMA),
Age at Diagnosis
Totals
Age <1 years
1<Age<3 years
3<Age<5 years
5<Age<7 years
7<Age<9 years
Age>9 years
Age at Diagnosis
Totals
Age <1 years
1<Age<3 years
3<Age<5 years
5<Age<7 years
7<Age<9 years
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Μ. Μαυρίκου5
Γ. Τρίμης5
Τμήμα Εμβολίων ΒΙΑΝΕΞ/Sa
Abstract
Evaluation of potential benefit of universal rotavirus vaccination program in Greece
V. Syriopoulou1, D. Kafetzis2, M. Theodoridou1, G. Syrogiannopoulos3, St. Mantagos4, M. Mavrikou5, G. Trimis5, A. Konstantopoulos6
Introduction: In Greece, acute rotavirus gastroenteritis (RVGE) is responsible for 16000 medical consultations, 10000 emergency department visits, 2000 hospitalisations and 1200 nosocomial infections on average in children under 5 years of age, with a cost of 7.6 million € (discount rate 3%) for National Health System (NHS). In present study, the potential benefit of introducing a vaccination programme against rotavirus in Greece is evaluated.
Methods: An analytic model, where clinical burden of RVGE before and after introduction of a vaccination program with RotaTeq® is compared (vaccination coverage 88%) in a birth cohort which is followed up from birth to the age of 5 years.
14610 e-mail: gtrim@otenet.gr
Correspondence
Trimis George Tatoiou St., 18th km Athinon-Lamias Rd.
N. Erythraia Postal Code 14610 e-mail: gtrim@otenet.gr
V. Syriopoulou1
M. Theodoridou1
First Department of Pediatrics, Athens University, Aghia Sophia Children’s Hospital, Athens, Greece
D. Kafetzis2
Second Department of Pediatrics, Athens University, Aglaia Kyriakou Children’s Hospital, Athens, Greece
G. Syrogiannopoulos3
Department of Pediatrics, University Hospital of Larissa, Larissa, Greece
St. Mantagos4
Department of Pediatrics, University Hospital of Rio, Patras, Greece
M. Mavrikou5
G. Trimis5
Vaccine Unit, VIANEX/Sanofi Pasteur MSD, Greece
A. Konstantopoulos6
Hellenic Paediatric Society, Athens, Greece
Results: Vaccine use could result in 67% reduction of the total annual number of RVGE cases. More than 80% of hospitalizations and emergency department visits related to RVGE could be avoided. Cost would be reduced by 78%, saving 5.9 million € (discount rate 3%), while 76% of cases avoided and 86% of costs avoided would be averted in two years. Considering the indirect cost (parents´ lost working days), cost reduction is increased (10 million € saving-offset of vaccination program cost). Vaccination of 7 children avoids one case seeking medical care related to RVGE.
Conclusions: Clinical and economic burden of RVGE in Greece is important. The introduction of routine rotavirus vaccination program could result in significant and rapid reduction of this burden, especially for NHS. Adding herd immunity to the model has a positive impact on results in favour of the vaccination.
Key words: benefits, vaccination, rotavirus
(40) (41)
Soriano-Gabarro Μ, et al. (8)
(9).
Maltezou HC, et al. (42)
Soriano-Gabarro Μ, et al. (8)
Soriano-Gabarro Μ, et al. (8)
Soriano-Gabarro Μ, et al. (8)
(20)
Vesikari T, et al (43).
(22,23)
= 2,05 ημέρες Χ
= + 1,7 ημέρες (44) Ισπανία = +2,4 ημέρες (45)
Υπολογισμός = (1,7
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Abstract
CGH)
Jacobsen, array-CGH
Molecular study in jacobsen syndrome with array cgh
Ηelen Leze1, Maria Tzetis1, Konstantina Kosma1, Areti Syrmou1, Krinio Giannikou1, Vasilis Oikonomakis1, Elisabeth Kouvidis1, Aggeliki Nika2, Ioannis Kapetanakis2, Emmanuel Kanavakis1, Sofia Kitsiou-Tzeli1
Jacobsen syndrome (OMIM 147791) is a rare but well characterized syndrome, as the result of variable size deletion at the terminal region of chromosome 11q. It is characterized by craniofacial and congenital heart defects, psychomotor delay, growth retardation while in the majority of the cases, is accompanied by thrombocytopenia/ bleeding tendency. Herein we report the case of a female neonate with thrombocytopenia, peculiar faces, congenital heart defects and limb anomalies that led to the clinical diagnosis of Jacobsen syndrome. Karyotype analysis showed a terminal deletion at the long arm of chromosome 11 [46,ΧΧdel(11) (q23.3―›qter)]. Array-CGH analyses confirmed the above finding and furthermore identified the length of the deleted segment (14.7Mb) as well as the gene content.
Key words: Jacobsen syndrome, array-CGH
Αλληλογραφία
Τηλ.:2107795553
e-mail: skitsiou@med.uoa.gr
Correspondence
Sofia Kitsiou-Tzeli
Address: Thivon & Levadias, Athens, 11527
Tel: 2107795553
e-mail: skitsiou@med.uoa.gr
Ηelen Leze1
Maria Tzetis1
Konstantina Kosma1
Areti Syrmou1
Krinio Giannikou1
Vasilis Oikonomakis1
Elisabeth Kouvidis1
Emmanuel Kanavakis1
Sofia Kitsiou-Tzeli1
Department of Medical Genetics, Medical School, University of Athens, «Agia Sofia» Children’s Hospital
Aggeliki Nika2
Ioannis Kapetanakis2
Neonatal Intensive Care Unit, 2nd Department of Pediatrics, Medical School, University of Athens, «P& A Kyriakou» Children’s Hospital
MRI = Magnetic Resonance Imaging
PTS = Paris-Trousseau syndrome
GH = Growth hormone
TSH = Thyroxine Stimulating Hormone
arrayCGH = array Comparative
Genomic Hybridization
CGH
v.3.4 (Agilent Technologies).
UCSC (http://genome.ucsc.edu/) και Database of Genomic Variants (http://projects.tcag.ca/variation/) (human genome build 18). Από
FLI1, ETS1, CHEK1, BARX2, JAM3, ADAMTS8, ADAMTS15, PANX3, FOXRED1, KCNJ1, B3GAT1, BSX, NRGN, FEZ1, RICS, (Εικόνα 2)
[UCSC database (http://genome.ucsc.edu/).
ations, CNV).
1. Grossfeld PD, Mattina T, Lai Z, Favier R, Jones KL, Cotter F, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Hum Genet 2004;129:51-61.
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4. Van Zutven L, Van Bever Y, Van Nieuwland C, Huijbregts G, Van Opstal D, Von Bergh A, et al. Interstitial 11q deletion from a maternal ins[1;11][p14;q24.2q25]: a patient report and review. Am J Med Genet 2008;149:1468-1475.
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7. Favier R, Jondeau K, Boutard P, Grossfeld P, Reinert P, Jones C, et al. Paris-Trousseau syndrome: clinical, haematological, molecular data of ten new cases. Thromb Haemost 2003;90:893-897.
8. Raslova H, Komura E, Couédic JP, Larbret L, Debili N, Feunteun J, et al. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia. J Clin Invest 2004;114(1):77-84.
9. Ye M, Coldren C, Liang X, Mattina T, Goldmuntz E, Benson DW, et al. Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum Mol Genet 2010;19(4):648-656.
10. Coldren CD, Lai Z, Shragg P, Rossi E, Glidewell SC, Zuffardi O, et al. Chromosomal microarray mapping suggests a role for BSX and neurogranin in neurocognitive and behavioural defects in the 11q terminal deletion disorder (Jacobsen syndrome). Neurogenetics 2009;10(2):89-95.
Abstract
Ι. Polymerou
P. Korovessi
G. Amountza
G. Kampouropoulou
E. Antonopoulou
A. Pegkou
I. Papadea
Pediatric Department, “Thriasio” General Hospital, Athens
Plasmodium vivax,
Autochthonous malaria by Plasmodium vivax in two children from Thiva:
First reported paediatric cases 20 years after the eradication of the disease in Greece
Ι. Polymerou, P. Korovessi, G. Amountza, G. Kampouropoulou, E. Antonopoulou, A. Pegkou, I. Papadea
Summary: Malaria is an infectious disease caused by intraerythrocytic parasites of the genus Plasmodium transmitted by the bite of a female mosquito of the Anopheles genus. It is endemic throughout the tropical regions of the world. In Greece, over the past 20 years malaria has been very rare and cases reported, almost exclusively, concern patients with recent travel history (imported malaria). We present two children with malaria caused by Plasmodium vivax and no travel history (indigenous malaria), who were admitted in our hospital on September 2010.
Key words: Malaria, autochthonous, Plasmodium vivax, children
Τ.Κ.: 15125, Αθήνα
Τηλ. 6973555808
e-mail: g_polymerou@yahoo.com
Correspondence
Ι. Polymerou
Daidalou st., Marousi P.C. 15125, Athens Tel: 6973555808
e-mail: g_polymerou@yahoo.com
τα παρακάτω αποτελέσματα: WBC:7000/μL, Π:61%, Λ:28,6%, Μ:9,3%, Hgb:9,1gr/dl, Hct:26,9%, PLT:92.000/μL, RDW:16,3, ΔΕΚ:1,18%, ΤΚΕ:60mm (1η ώρα), CRP:61,4mg/L, SGOT:24 IU/L, SGPT:12 IU/L, γ-GT:16 IU/l, LDH:511 IU/l, άμεση χολερυθρίνη:0,2mg/dl, έμμεση χολερυθρίνη:0,25 mg/ dl, Fe:13 μg/dl, Φερριτίνη:325,5 ng/mL.
WBC:8200/μL, Π:82%, Λ:14,7%, Μ:3,1%, Hgb:9,9gr/dl, Hct:31%, PLT:85.000/μL, RDW:13,8, ΔΕΚ:1,76%, ΤΚΕ:40mm (1η ώρα), CRP:51mg/L, SGOT:38 IU/L, SGPT:31 IU/L, γ-GT:23 IU/l, LDH:468 IU/l, ALP:132 IU/l, άμεση
έμμεση χολερυθρίνη:0,4mg/dl, Φερριτίνη:219,7ng/mL.
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Abstract
Candida parapsilosis endocarditis in a premature neonate. Successful outcome with combined antifungal and surgical treatment
K. Papadopoulou-Legbelou1, G. Kalavrouziotis2, C. Reveliotis2, K. Karachristou3, M. Lithoxopoulou4, G. Varlamis1, N. Nikolaidis4
Candida endocarditis is an uncommon and serious complication of invasive Candida infection in neonates. Although older children and adults usually receive both medical and surgical treatment, for preterm and especially critically ill neonates cardiac surgery is not always possible. We report a case of a large C. parapsilosis mycetoma, which was successfully treated with antifungal agents and surgical removal of vegetation.
Key words: Fungal endocarditis, candida, mycetoma, vegetation, neonates.
K. Papadopoulou-Legbelou1
G. Varlamis1
4th Department of Pediatrics, Aristotle University of Thessaloniki, Thessaloniki
G. Kalavrouziotis2
C. Reveliotis2
1st Department of CardioThoracic Surgery, “Aghia Sophia” Children’s Hospital, Athens.
K. Karachristou3
1st Department of Neonatal Intensive Care Unit, “Aghia Sophia” Children’s Hospital, Athens
M. Lithoxopoulou4
N. Nikolaidis4
2nd Department of Neonatal Intensive Care Unit, Aristotle University of Thessaloniki, Thessaloniki
Αλληλογραφία
Κ. Παπαδοπούλου-Λεγμπέλου
Ν. Ευκαρπία, 56403
Θεσσαλονίκη
Τηλ: 6944421060
e-mail: kelipap@gmail.com, kpapadopoulou@auth.gr
Correspondence
K. Papadopoulou-Legbelou
N. Efkarpia 56403 Thessaloniki, Greece
Tel: +0306944421060
e-mail: kelipap@gmail.com, kpapadopoulou@auth.gr
Candida.
Sutton 1983
Johnson 1984
Johnson 1984
Foker 1984
Foker 1984
Foker 1984
Ho 1984
Heydarian 1987
O’Callaghan 1988
Faix 1990
Sanchez 1991
Sanchez 1991
Zenker 1991
Zenker 1991
Citak 1992
Mayayo 1996
Farah 1997
Daftary 1999
Daftary 1999
Daftary 1999
Daftary 1999
Mogyorosy 2000
Levy 2006
Levy 2006
Levy 2006
Levy 2006
Levy 2006
Correale 2006
Karatza 2008
Karatza 2008
Συντηρητική θεραπεία
C. Albicans
C. Albicans
C. Albicans
C. Albicans
C. Albicans
C. Albicans
C. spp
C. Albicans
C. spp
C. parapsilosis
C. Albicans
C. Albicans
C. Albicans
C. parapsilosis
C. Albicans
C. Albicans
C. spp
C. Albicans
C. Albicans
C. Albicans
C. Albicans
C. Albicans
C. Albicans
C. Albicans
C. parapsilosis
C. parapsilosis
C. parapsilosis
C. Albicans
C. Albicans
C. Albicans
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ΑμφΒ+Φθορ
ναι
ΑμφΒ
ΑμφΒ
Λιπ.Αμφ+Φλουκ.
Λιπ.Αμφ+Φλουκ.
Λιπ.Αμφ
Λιπ.Αμφ+Φθορ Φλουκ
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Abstract
Keywords: Cystic nephroma, Child, Kidney mass, Nephrectomy. Περίληψη
Childhood Cystic Nephroma: diagnosis and treatment (Case Presentation)
V. Papadakis1, A. Papanikolaou2, K. Stefanaki3, J. Alexandrou4, M. Zeis4, Sp. Antypas4
Cystic nephroma (CN) is α rare, benign renal tumour that can also occur in children. A 9 month old female, with a palpable abdominal mass, without any family history for renal pathology, is presented. Abdominal ultrasonography and MRI were used for the initial evaluation of the lesion. With the presumptive diagnosis of CN, the patient underwent total nephrectomy. Histpathologic examination showed a solitary, multilocular cystic tumor without any solid components or any communication of the cysts with each other and the renal pelvis, which was compatible with a cystic nephroma. As CN can rarely be associated with pleuropneumonary blastoma, postoperative CT of the head and chest were performed revealing no abnormal findings. Pediatricians and pediatric surgeons should be familiar with the clinical, radiologic, surgical, and histopathologic characteristics of CN. The presumptive diagnosis of CN prompts surgical intervention. Total mass excision with partial nephrectomy is the treatment of choice for suitable cases. Nephrectomy should be reserved for CN which totally replaces the renal parenchyma. The rare association with pleuropneumonary blastoma should also be investigated.
Αλληλογραφία
Αθήνα 115 27
Tηλ: 2107452020
Τηλεομοιοτυπία: 2106800125
e-mail: vpapadak@otenet.gr
Correspondence
Vassilios Papadakis
Athens 115 27, Greece
Tel: +30 210 7452020
Fax: +30 210 6800125
e-mail: vpapadak@otenet.gr
V. Papadakis1
Department of Pediatric Hematology-Oncology, “Aghia Sofia” Children’s Hospital, Athens
Greece
A. Papanikolaou2
Private Radiologist, Radiology Center T. Papanikolaou, Athens
Greece
K. Stefanaki3
Department of Pathology, “Aghia Sofia” Children’s Hospital, Athens Greece
J. Alexandrou4
M. Zeis4
Sp. Antypas4
First Surgical Clinic, “Aghia Sofia” Children’s Hospital, Athens
Greece
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Μανταδάκης Ελπιδοφόρος
Μαύρου Αριάδνη
Παναγιωτοπούλου - Γαρταγάνη Πολυτίμη
Παντελιάδης Χρήστος
Παπαβασιλείου - Συρίγου Αντιγόνη
Παπαδάκης Βασίλειος
Παπαδοπούλου - Αλατάκη Ευφημία
Παπαδοπούλου Αλεξάνδρα
Παπαδοπούλου - Λεγμπέλου Κυριακή Παπαευαγγέλου Βασιλική
Παπαθανασίου - Καϊμαρά Αστερούλα
Παυλοπούλου Ιωάννα
Παύλου Ευάγγελος
Περβανίδου Παναγιώτα
Πλατοκούκη Ελένη
Ροηλίδης Εμμανουήλ Ρώμα - Γιαννίκου Ελευθερία