Four monthly scientific journal of the Greek Paediatric Society
200
212
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242
244 ΒΙΒΛΙΟΠΑΡΟΥΣΙΑΣΗ In memoriam
246
Volume 80 | Number 3 | September - October - November - December 2017
164
EDITORIAL
S. Antoniadis
166
RESEARCH STUDIES
Oral health status and treatment needs among 12 year old school-children (Grade 6th) in western Attica
Soultana Georga, Venetia Sotiri,Paraskevi Zossi, Vassiliki Zouvelou, Spyridoula Kakkou, Petros Almagout, Thomais Vlachou
178
Comparative study of use of corporal punishment to children in Greece preceding and following its criminalization
Stavroula Papadakou, Constantina Katopi, Alexandra Palili, Stavroula Gini, Ioanna Sgouromalli
186
REVIEW ARTICLES
Food Insecurity during Childhood: causes, prevalence, results and recommendations
Maria G. Grammatikopoulou, Xenophon Theodoridis, Michael Chourdakis, Andreas Oikonomou, Ilias Tirodimos, Theodoros Dardavesis
200
Phenylketonuria (PKU): past, present, future
Triantafyllia Sdogou, Euridiki Drogari, Kleopatra Schulpi
212
Autoimmune polyendocrinopathies in children: Diagnosis and management
Eleana Zisimopoulou, Elpis-Athina Vlachopapadopoulou, StefanosMichalacos
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P. Panagiotopoulou-Gartagani
A. Papadopoulou
V. Papaevagelou
A. Papathanassiou
A. Siamopoulou-Mavridou
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222
Desmoplastic small round cell tumor: clinical - Pathological Characteristics and Outcome
Kondilia Antoniadi, Ioannis P. Panagiotou, LoizosPetrikkos, Amalia Patereli, Kalliopi Stefanaki, Sophia Polychronopoulou
228
A 47, XXY karyotype in a patient with autism spectrum disorder
ElisavetKouvidi, Sophia Zachaki, Anastasios Mitrakos, Haralampia Tsarouha, Amelia Pantou, Emmanouil Kanavakis, Ariadni Mavrou
234
Interesting cases of Echinococcosis or Hydatid disease
Marilena Prapa, Sophia Tzalavra, Chara Barbaressou, Christiana Prodromou, Panagiotis Shoretsianitis, Antonios Kourtesis
242 BETWEEN COLLEAGUES
S. Antoniadis
144 BOOK PRESENTATION In memoriam
The charm of memories By Dimitris Zoumboulakis
246
INSTRUCTIONS TO AUTHORS
ΕΠΙΣΤΟΛΗ
UTN=57,3% (ελληνόπαιδες=48,3%,
(αγόρια/κορίτσια=1,3/1).
Προληπτικούς οδοντιατρικούς ελέγχους
Τ.
K. 6944623737
e-mail: paidpent@yahoo.gr
Correspondence
Soultana Georga
Dodecanisou Δωδεκανήσου
1 Agia Varvara, 12351
Τ. +30 2132073070
M. +30 6944623737
e-mail: paidpent@yahoo.gr
Soultana Georga,Venetia Sotiri, Paraskevi Zosi, Vasiliki Zouvelou, Spyridoula Kakkou, Petros Almagout,Thomais Vlachou
Abstract
Introduction: The WHO defines oral health as one of the important elements that determine the general health and quality of life (WHO 2007).
Aim: To evaluate the results of a preventive dental program, in the heterogeneous student population of 6th elementary class (WHO oral health index 12yrs).
Materials and Methods: In cooperation with the Municipality and following parental permission, participation of 145 students (out of 274 of the 6thgrade, school year2013-14) in a preventative dental check up was performed at our Hospital. Participants accounted for 53% of students, where boys=50.3%, Greek children=74.5%, immigrants=6.2%, Roma=19.3%).
Results: Caries was found in 35.8% of students, with an average of decayed teeth/person=1.8 and a ratio of girls/boys=1.16/1. Filled teeth were encountered in 31.7% of children (~50% with ≥2 fillings, mostly girls) with an average of filled tooth/person=1.5. The mean DMFT index=1.13. Gingivitis occurred in 6.3% (boys/girls=8/1) and dental plaque in 94.5%. The mean index DI-s=0,94. Total untreated caries needs were UTN=57,3% (greek-children=48.3%, roma=75%, immigrants=81%) while 4 out of 10 adolescents were free of caries. Orthodontic problems were identified in 74% of students (boys/girls=1.3/1). Nearly 38% of students have preventive dental check ups (13.1% yearly), with inequalities due to ethnicity and for 7% was their first dental visit.
Conclusions: Caries prevalence is high among our students, their oral-health status was moderate, their dental monitoring incomplete and there are important inequalities due to ethnicity. It is important to inform both students and their parents about good oral-health and hygiene, to establish improved dental care especially for sensitive populations and to implement customized programs for the promotion of oral-health.
Key words: Oral health, caries, schoolchildren, ethnic minorities, Athens
Soultana Georga
Paraskevi Zosi
Vasiliki Zouvelou
Spyridoula Kakkou
Thomais Vlachou
Department of Pediatrics, General Hospital of NikaiaPiraeus “Agios Panteleimon”- General Hospital of Western Attica”Agia Varvara”, Athens, Greece
Venetia Sotiri
Petros Almagout
Department of Dentistry, General Hospital of Western Attica ”Agia Varvara”, Athens, Greece
Gluck,1972)
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στο 6,3% (95%CL=2,4%-10,2%),
(αγόρια/κορίτσια=8/1), (Πίνακας 3).
(Greene,1967),
The chi-square statistic is 7.9347. The P-Value is 0.018924. The result is significant at p <0.05
The chi-square statistic is 8.4648. The P-Value is 0.014518. The result is significant at p <0.05
Bolin (1996)
DMFT=2,35 (31),
Demertzi
DMFT=4,5 το 1989 που μειώθηκε σε 1,81 το 2001 (32), των Ουλής Κ κ συν.(2005), πανελλαδικά,
(2008)
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(40).
(GOOGH 2009).
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2. Oral health status and treatment needs among primary school going children in Nagrota Bagwan block of Kangra ,Himachal Pradesh. Anupriya Sharma, Pradeep Bansal,1 Ashoo Grover,2 Suresh Sharma, and Ashish Sharma3 J Indian Soc Periodontol. 2014 Nov-Dec; 18(6): 762–766.
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5. Prevalence of Dental Caries in relation to Body Mass Index, Daily Sugar Intake, and Oral Hygiene Status in 12-Year-Old School Children in Mathura City: A Pilot Study Prahlad Gupta, Nidhi Gupta, Harkanwal Preet Singh, Int J Pediatr. 2014; 2014: 921823.
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9.Changes in dental caries 1953-2003. Marthaler TM1. Caries Res. 2004 May-Jun;38(3):173-81. 10. World Health Organization. Oral health country/area profile programe. Geneva (CH): WHO; 2015. Available from: www.collab.od.mah.se.
11. Oral and Dental Health. Prevention of Dental Caries, Erosion, Gingivitis and Periodontitis. Loveren CV [Updated: 2009; Accessed 2015 Feb 21]. Available from: http://www.ilsi.org/Europe/Publications/C2009Oral_Den.pdf .ed 2015 Feb 21].
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13. Dental caries and oral health practice among 12 year old school children from low socioeconomic status background in Zimbabwe.Mafuvadze BT1, Mahachi L, Mafuvadze B. Pan Afr Med J. 2013 Apr 29;14:164. doi: 10.11604/pamj.2013.14.164.2399. Print 2013. 14.
97-120 ,2009.
15. Caries prevalence of 5, 12 and 15-year-old Greek children: a national pathfinder survey. Oulis CJ1, Tsinidou K, Vadiakas G, Mamai-Homata E, Polychronopoulou A, Athanasouli T. Community Dent Health. 2012 Mar;29(1):29-32.
16. Epidemiology and risk factors of periodontal diseases. Albandar JM.Dent Clin North Am. 2005 Jul; 49(3):517-32, v-vi.
17. Oral health related quality of life of Greek adolescents: a cross-sectional study. Papaioannou W1, Oulis CJ, Latsou D, Yfantopoulos J. Eur Arch Paediatr Dent. 2011 Jun;12(3):146-50.
18. Epidemiology of dental pain and dental caries among children and adolescents. Slade GD . Community Dent Health. 2001;18(4):219–227. [PubMed]
19. Dental caries and oral health practices among 12 year old children in Nairobi West and Mathira West Districts, Kenya. Gathecha G, Makokha A, Wanzala P, Omolo J, Smith P. Pan
Afr Med J. 2012;12:42–49.
20.
2008,65(1):32-38.
21. Influence of sociodemographic variables on use of dental services, oral health and oral hygiene among Spanish children. Jimenez R, Tapias-Ledesma MA, Gallard-Pino C, Carracoso P, De Miguel AG. Int Dent J 2004,54: 187-192
22. Dental care considerations for young children. Edelstein BL.Spec Care Dentist. 2002;22(3 Suppl):11S-25S. R
23. Oral hygiene and periodontal status of 12 and 15-year-old Greek adolescents. A national pathfinder survey. Vadiakas G1, Oulis CJ, Tsinidou K, Mamai-Homata E, Polychronopoulou A. Eur Arch Paediatr Dent. 2012 Feb;13(1):11-20.
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2008-2012.
26. Oral health information for Appalachia-West Virginia children: a cross-sectional analysis. R Constance Wiener,1 Alcinda Trickett Shockey,2 and Regina Wiener-Pla3, Research (Lambertville). 2014;1. pii: 993.
27. Parental knowledge of pre-school child oral health. Prabhu A, Rao A, Reddy V, Ahamed S, Muhammad S, Thayumanavan S J Community Health. 2013;38:880–4. [PubMed]
28.Socioeconomic inequalities in the non-use of dental care in Europe. Tchicaya A, Lorentz N.Int J Equity Health. 2014 Jan 29;13:7.
29. Oral health in children and adolescents with different socio-cultural and socio-economic backgrounds. Lisa Bøge Christensen*a, Svante Twetmanb & Annette Sundbyc Acta Odontologica ScandinavicaVolume 68, Issue 1, 2010
30. The decline in dental caries among 12-year-old children in Germany between 1994 and 2000. Pieper K, Schulte AG. Community Dent Health. 2004 Sep;21(3):199-206.
31. Children's dental health in Europe. Caries treatment need in 5- and 12-year-old children from eight EU countries.Bolin AK1, Bolin A, Alfredsson L. Acta Odontol Scand. 1996 Dec;54(6):355-61.
32. Caries prevalence of 11.5 year-olds between 1989 and 2001 in a province of NorthEastern Greece. Demertzi A, Topitsoglou V, Muronidis S.Community Dent Health. 2006 Sep;23(3):140-6.
33) Dental caries prevalence and treatment needs of 5- to 12-year-old children in relation to area-based income and immigrant background in Greece.Gatou T, Koletsi Kounari H, MamaiHomata E. Int Dent J. 2011 Jun;61(3):144-51. doi: 10.1111/j.1875-595X.2011.00031.x.
34. Oral hygiene habits of 11-year-old schoolchildren in 22 European countries and Canada in 1993/1994., Kuusela S, Honkala E, Kannas L, Tynjälä J, Wold B (1997) J Dent Res 76, 16021609
35. Gender differences in child-related and parent-related determinants of oral health-related lifestyle among 11- to 12-year-old Finnish schoolchildren. Poutanen R, Lahti S, Tolvanen M, Hausen H (2007)Acta Odontol Scand 65, 194-200
36. Surveillance for Dental Caries, Dental Sealants, Tooth Retention, Edentulism, and Enamel Fluorosis --- United States, 1988--1994 and 1999--2002Eugenio D. Beltrán-Aguilar, DMD,1 Laurie K. Barker, MSPH,1 María Teresa Canto, DDS,2 Bruce A. Dye, DDS,3 Barbara F. Gooch, DMD,1 Susan O. Griffin, PhD,1 Jeffrey Hyman, DDS,2 Freder Jaramillo, DDS,1 Albert Kingman, PhD,2 Ruth Nowjack-Raymer, PhD,2 Robert H. Selwitz, DDS,2 Tianxia Wu, PhD2 MMWR August 26,2005/54(03): 1-44.
37. Explaining sex differences in dental caries prevalence: saliva, hormones, and "life-history" etiologies. Lukacs JR1, Largaespada LL. Am J Hum Biol. 2006 Jul-Aug;18(4):540-55
38. The effect of socio-economic status and ethnicity on the comparative oral health of Asian and White Caucasian 12-year-old children. Dugmore CR, Rock WP. Community Dent Health. 2005 Sep;22(3):162-9.
39. Socio-economic effect on caries. Incidence data among Swedish 12-14-year-olds. Källestål C, Wall S.Community Dent Oral Epidemiol. 2002 Apr;30(2):108-14. 40.
Korydallos news .gr
41. Prevalence of sealants in relation to dental caries on the permanent molars of 12 and 15-yearold Greek adolescents. A national pathfinder survey Constantine J Oulis1*, Elias D Berdouses2, Eleni Mamai-Homata3 and Argyro Polychronopoulou3 BMC Public Health 2011, 11:100 doi:10.1186/1471-2458-11-100
Correspondence
Stavroula Papadakou
“Spyros Doxiadis” Diagnostic and Therapeutic Unit for the Child, Athens Greece
Stavroula Papadakou, Constantina Katopi, Alexandra Palili, Stavroula Gini, Ioanna Sgouromalli
Abstract
Background: Physical punishment of children is used by parents as a means of behavioral correction. In Greece, this practice was penalized by law in 2006.
Methods: The research, that took place in 2014, aims at the comparative study (with our research in 2001) and the investigation of the change of attitude and perceptions about the use of corporal punishment in children after its legal abolition in our country in 2006. The additional objective is the detection of any need for information about the subject. We addressed to 350 parents who brought their children to our pediatric department with questionnaires to answer optionally and anonymously.
Stavroula Papadakou
“Spyros Doxiadis” Diagnostic and Therapeutic Unit for the Child, Athens Greece
Pediatric Department of “Asklipiion Voulas” General Hospital, Athens Greece
Constantina Katopi
Alexandra Palili
Pediatric Department of “Asklipiion Voulas” General Hospital, Athens Greece
Stavroula Gini
Pediatric Department of “Asklipiion Voulas” General Hospital, Athens Greece
Ioanna Sgouromalli
“Spyros Doxiadis” Diagnostic and Therapeutic Unit for the Child, Athens Greece
Results: A 27.36% (compared with 83% in 2001) of the respondents said they physically punished their children and 88.46% of them accepted the loss of their temper. The existence of a supportive person at home is combined with a reduction in the use of physical punishment, in the same proportion. The majority of parents agree with the criminalization of this practice, with a 52.63% of them looking for special parenting education, 55.78% from the pediatrician. Conclusions: Nowadays, the need for increased protection of childhood is as urgent as ever. The ban on corporal punishment as a method of educating children in Greece in 2006 led to a significant change in public opinion, since its use was significantly reduced compared to 2001. This decline can be attributed to both criminalization as such and public debate which began on the occasion of the law.
Key words: corporal punishment, penalization, Greece
(1983), τη Νορβηγία (1987), την
(1989), την
Λετονία (1998), την Κροατία (1998), το Ισραήλ (2000), τη
(1994), τη
(1997),
(2000), Ισλανδία (2003) και
Βιβλιογραφία
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e-mail:
Correspondence
Michael Chourdakis
Aristotle University, Thessaloniki - Greece
Τ. +302310013584
e-mail: mhourd@auth.gr
Maria G. Grammatikopoulou, Xenophon Theodoridis, Michael Chourdakis, Andreas Oikonomou, Ilias Tirodimos, Theodore Dardavessis
Abstract
Food insecurity is defined as the limited and/or precarious access to nutritionally adequate and secure food, as well as the limited/uncertain ability to obtain sufficient food in socially accepted ways. In childhood, it is associated with a number of negative developmental changes, including behavioral problems, poor health in general, but also disrupted social relationships, delayed speech development, shame, poor school performance and abstinence from school, impaired lifestyle, low levels of physical activity, increased energy intake, adopting an unhealthy diet and inadequate intake of micronutrients such as calcium, iron and zinc. It is a precursor condition leading to changes in child's physiology, such as low stature.
Key words: food security; hunger; poverty; malnutrition; children; nutrition; diet
Maria G. Grammatikopoulou
Michael Chourdakis
Andreas Oikonomou
Ilias Tirodimos
Theodore Dardavessis
Xenophon Theodoridis
Maria G. Grammatikopoulou
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2004-5 2004-5 2004-5 2012 1999-2004 1999-2004 1999-2004
HFIAS: Household Food Insecurity Access Scale; HFSM: Household Food Security Module; HFSS: Household Food Security Scale;
Child Food Security Survey Module;
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2014;144:1619-1626.
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(PKU),
(ΒΗ4) (saptopterin dihydrochloride),
screening (NBS),
PAH
e-mail: lsdogou@writeme. com
Correspondence
Triantafyllia Sdogou
Thivon & Papadiamantopoulou 11527 Goudi, Athens-Greece
Τ. +302107467476
Κ. +306934135413
e-mail: lsdogou@writeme. com
Triantafyllia Sdogou, Euridiki Drogari, Kleopatra Schulpi
Abstract
Phenylketonuria is the most well - known inborn error of amino acid metabolism (phenylalanine into tyrosine). PKU is caused by the deficiency of the liver enzyme phenylalanine hydroxylase (PAH) which is responsible for the metabolism of phenylalanine to tyrosine. It is inherited with a recessive autosomal trait. The clinical picture of untreated PKU is mental retardation, behavioural disorders, seizures, eczema, aggression, hyperactivity, psychosis and autism, due to toxicity of the Phe and it’s metabolites. The main treatment of this disorder is low Phe diet and rich Phe free medical foods in cases of BH4 deficiency. It is important to restore this disorder with the additional precautions or and neurotransmitters in case of BH4 deficiency. The disease is diagnosed early during the first days of life by measuring the levels of amino acid Phe into dry blood spots on Guthrie cards (neonatal screening, NBS). Regular laboratory and psychometric tests are very important for the best outcome of the patient with this metabolic disorder. Quality of life of children and their parents is also improved by close follow up and psychological support. In the future, gene therapy could be the best treatment for this metabolic disorder.
Key words: Phenylketonuria (PKU), hyperphenylalaninemia, newborn screening (NBS), ΒΗ4 saptopterin dihydrochloride, phenylalanine hydroxylase (PAH)
Triantafyllia Sdogou
Euridiki Drogari
Kleopatra Schulpi
Συντομογραφίες:
PAH
κατατάσσεται:
• Κλασσική PKU (Phe >1200μmol/l) δηλαδή >20mg/dl (φ.τ. 60-71 μmol/l στη νεογνική
περίοδο) ή (0,4-1,7mg/dl)
• Διάμεση (Intermediate) PKU (600 μmol/l >Phe< 1200 μmol/l) ή 10-20mg/dl
• Μη PKU-ΗΡΑ ή ήπια Υπερφαινυλαλανιναιμία ΜΗΡ (Ρhe<600 μmol/l) ή <10mg/dl • ΒΗ4 εξαρτώμενη PKU/ΗΡΑ (τα
Stanford- Binet (S-B) IQ, peabody test, ErtL
WISC-R IQ
Βιβλιογραφία
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Κ.
e-mail: elpis.vl@gmail.com
Correspondence
Elpis-Athina Vlachopapadopoulou
Thivon & Livadias 11527
Athens-Greece
Τ. +302132009851
F. +302132009531
Κ. +306932247228
e-mail: elpis.vl@gmail.com
Eleana Zisimopoulou, Elpis-Athina Vlachopapadopoulou, StefanosMichalacos
Abstract
Background: The Autoimmune Polyglandular Syndromes are uncommon constellations of organ-specific autoimmune diseases, characterized by the occurrence of more than one autoimmune disease in an affected individual. Involvement of both endocrine and non-endocrine organs and tissues may be present.
Methods: Review of the recent literature, focusing on clinical and laboratory data that aid in establishing the diagnosis of Polyglandular Autoimmune Diseases.
Results - Conclusions: Two major subtypes of polyglandular syndromes exist (APS-1 and APS2), that are distinguished according to the age of presentation, characteristic patterns of disease combinations, and different modes of inheritance. A third subtype has been described in adults that, contrary to types I and II, does not involve the adrenal cortex.
Key words: Polyglandular autoimmune disease, hypoparathyroidism, adrenal insufficiency, insulin dependent diabetes mellitus disease, AIRE gene, genetic syndromes, APS-1, APS-2
Eleana Zisimopoulou
Elpis-Athina Vlachopapadopoulou
StefanosMichalacos
AndersonMS, SuMAAire expands: New roles in immune tolerance and beyond Nat Rev Immunol 2016; 247-58 (32)
Συντομογραφίες:
APS-1: Autoimmune polyglandular syndrome 1
APS-2: Autoimmune polyglandular syndrome 2
APECED: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy
IPEX: Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome
AIRE gene: Autoimmune regulator gene
IA-A2:
2)
του νησιδιακού αντιγόνου 2, isletantigen 2 (IA-2A), αντι-θυρεοειδικά αντισώματα συγκεκριμένα αντισώματα ένατι θυρεοειδικής υπεροξειδάσης (anti-TPO), και αντισώματα ένατι θυρεοσφαιρίνης (antiTG), αντισώματα έναντι
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e-mail: condilia.and@gmail. com
Correspondence
Triantafyllia Sdogou
Thivon & Papadiamantopoulou 11527 Goudi, Athens-Greece
Τ. +302107467476
Κ. +306934135413
e-mail: lsdogou@writeme. com
Kondilia Antoniadi, Ioannis P. Panagiotou, LoizosPetrikkos, Amalia Patereli, Kalliopi Stefanaki, Sophia Polychronopoulou
Abstract
We present a case of a 12-year old boy who was admitted due to worsening abdominal pain of 2 weeks duration, with concomitant lower back pain, as well as, night sweats. The imaging revealed the presence of a mass in the lower pelvis with peritoneal carcinomatosis. The mass biopsy confirmed the diagnosis of desmoplastic small round cell tumor. Followed by chemotherapeutic treatment and an effort of surgical exception with positive results. The patient relapsed 14 months after diagnosis and finally died. Desmoplastic small round cell tumor is a rare malignant tumor with poor prognosis. It affects young adolescents, preferably males in the second decade of the life, and is manifested mainly as sizable abdominal mass with broad expansion usually already at diagnosis.
Key words: desmoplastic small round cell tumor
Kondilia Antoniadi
Ioannis P. Panagiotou, LoizosPetrikkos
Amalia Patereli
Kalliopi Stefanaki
Sophia Polychronopoulou
Συντομογραφίες:
ASD: Autism Spectrum Disorders
DSM: Diagnostic and Statistical Manual of Mental Disorders
XYY: Σύνδρομο 47,XYY
aCGH: Array Comparative Genomic Hybridization
NLGN:
CWS–guidance 2009 - High Risk Group Non-RMS-like tumor,
Ifosfamide (3000mg/m2), Vincristine (1,5 mg/m2) και Adriamycin (40mg/m2) και 5
Ifosfamide, Vincristine και Actinomycin D (1,5 mg/m2).
Mitomimycin-C
Cisplatin στους 41-42 OC (HIPEC). Ακολούθως
Ifosfamide (3000mg/ m2), Vincristine (1,5 mg/m2) και Adriamycin (40mg/m2) και 4 κύκλους με Ifosfamide, Vincristine και Actinomycin D (1,5mg/m2),
18% [12-13].
Βιβλιογραφία
1. Gerald WL, Rosai J. Case 2: Desmoplastic small cell tumor with divergent differentiation. Pediatr Pathol 1989;9:177-83.PMID:2473463
2. Gerald WL, Miller HK, Battiflora H, et al. Intraabdominal desmoplastic small round-cell tumor: Report of 19 cases of a distinctive tyre of high-grade polyphenotypic malignacy affecting young individuals. Am J Surg Pathol 1991;15:499-513.PMID1709557
3. Zhu ZX,Wang J:Soft tissue tumor pathology. Beijing: people's Medical Publishing House 2008
4. Gerald WL, Ladanyi M, Paull G, et al. Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): Desmoplastic small round-cell tumor and its variants. J Clin Oncol 1998;16(9):3028-36.PMID:9738572
5. Parkash V, Gerald WL, Parma A, et al. Desmoplastic small round cell tumor of the pleura . Am J Surg Pathol 1995;19(6):659-65.PMID:7755152
6. Layfield LJ, Lenarsky C. Desmoplastic small round cell tumors of the peritoneum coexpressing mesenchymal and epithelial markers. Am J Clin Pathol 1991;96:536-543.PMID:1716417
7. Cummings OW, Ulbright Tm, Young RH, et al. Desmoplastic small round cell tumors of the paratesticular region: a report of 4 cases. Am J Surg Pathol 1997;21:219-25.PMID:9042290
8. Furman J, Murphy WM, Wajsman Z, et al. Urogenital involvement by desmoplastic small round-cell tumor. J Urol 1997;158:1506-9.PMID:9302152
9. Bismar TA,Basturk O,Gerald WL,Schwarz K,Adsay NV: Desmoplastic small cell tumor in the pancreas. Am J Surg Pathol 1997,21:219-225.PMID:15166674
10. Tison V, Cerasoli S, Morigi F, et al. Intracranial desmoplastic small-cell tumor: a report of a case. Am J Surg Pathol 1996;20:112-7.PMID: 8540602
11. Adsay V, Cheng J, Athanasian E, et al. Primary desmoplastic small round cell tumor of soft tissues of the hand. Am J Surg Pathol 1999;23:1408-13.PMID:10555010
12. Melissa A. Bent,Benjamin E Clinical characteristics and outcomes of pediatric patients with desmoplastic small round cell tumor
Rare Tumors 2016; 8:6145
13. Kushner BH, La Quaglia MP, Wallner N, et al. Desmoplastic small round cell tumors: Prolonged progression-free survival with aggresive multimodality therapy.
J Clin Oncol 1996;14;1526-1531.PMID:8622067
14. Felgenhauer J, Miser J, Hawkins D, et al. Treatment of metastasting sarcomas in children using a dose intensive chemotherapy regimen of vincristine, adriamycin, cyclophosphamide, ifosfamide, mesna, etoposide (VACIME). Proc Am Soc Oncol 1997;16:521a.PMID:10611582
15. Hawkins D, Felgenhauer J, Park J, et al. Peripheral blood progenitor supported dose-intensive chemotherapy for metastatic sarcomas in children and young adults. Proc Am Soc Oncol 1998;17:537a.
16. Xiang Li,Jing Yu Desmoplastic small round cell tumor: a casereport and review of the literature World Journal of Surgical Oncology 2014,12:9, PMID: 24410799
17. Gerald WL, Rosai J, .Ladayni M. Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor. Proc Natl Acad Sci USA 1995;92:1028-32.
18. Ladayni M, Gerald W. Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor.Cancer Res 1994:54:2837-40.
19. Barr FG, Chatten J, D'Cruz CM, et al: Molecular assays for chromosomal translocations in the diagnosis of pediatric soft tissue sarcomas. JAMA 1995; 273:553-557.
20. Argatoff LH, O'Conell JX, Mathers Ja, et al. Detection of the EWS/WT1 gene fusion by reverse transcriptase-polymerase chain reaction in the diagnosis of intraabdominal desmoplastic round cell tumor. Am J Surg Pathol 1996;20:406-12.
21. Brodie SG, Stocker SJ, Wardlaw JC, et al. EWS and WT1 fusion in desmoplastic small round cell tumor of the abdomen. Hum Pathol 1995;26:1370-4.
22. Schmidt D, Koster E, Harms D. Intraabdominal desmoplastic small round cell tumor with divergent differentation: clinicopathologic findings and DNA ploidy. Med Pediatr Oncol 1994;22:97-102.
23. Variend S, Gerrad M, Norris PD, et al. Intraabdominal neuroectodermal tumor of childhood with divergent differentation. Histopathology 1991;18:45-51.
F.
e-mail: ekouvidi@hotmail. com
Correspondence
Elisavet Kouvidi
T. +302106803130
F. +302106894778
e-mail: ekouvidi@hotmail. com
Elisavet Kouvidi, Sophia Zachaki, Anastasios Mitrakos, Haralampia Tsarouha, Amelia Pantou, Emmanouil Kanavakis, Ariadni
Mavrou
Abstract
Βackground: Autism Spectrum Disorders (ASD) are serious multifactorial developmental disorders with great clinical heterogeneity. Biological factors play a major role in ADS development. Various genetic syndromes are associated with ASD. In this report, we describe an interesting case of a child with ASD and Jacobs syndrome (47,XYY).
Case report: A 3-year-old boy with ASD was referred to our Department for molecular karyotype in order to investigate possible genetic causes. There was no consanguinity between the parents and the family history was free of autism. In the perinatal history, a full-term pregnancy and vaginal delivery were reported.
Results: Molecular karyotype (Array Comparative Genomic Hybridization - aCGH) indicated duplication of Y chromosome regions Yp11.32-p11.2, Yq11.21-q12 and Yq11.23-q12, as well as duplication of pseudo-autosomal regions of X chromosome Xp22.33, Xp28. These findings are consistent with a 47,XYY karyotype. Conventional cytogenetic analysis confirmed the 47,XYY karyotype.
Conclusions: The presence of an additional Y chromosome is probably associated with ASD. Further studies are required to investigate the role of the extra Y chromosome and the genes located on it in ASD manifestation. Investigating the genetic basis of ASD and identifying reliable biomarkers will contribute to early postnatal and prenatal ASD diagnosis.
Elisavet Kouvidi
Sophia Zachaki
Anastasios Mitrakos
Haralampia Tsarouha
Amelia Pantou
Emmanouil Kanavakis
Ariadni Mavrou
Genesis Genoma Lab
ASD: Autism Spectrum Disorders
DSM: Diagnostic and Statistical Manual of Mental Disorders
XYY: Σύνδρομο 47,XYY
aCGH: Array Comparative Genomic Hybridization
NLGN:
1. http://www.who.int/mediacentre/factsheets/autism-spectrum-disorders/en/
2. Schuch J, Mariath L, Roman T, Schuler-Faccini L. The Genetic Basis of Autism Spectrum Disorder. In: Robinson-Agramonte M, editors. Translational Approaches to Autism Spectrum Disorder. Springer, Cham, 2015. p. 39-63.
3. Margari L, Lamanna AL, Craig F, Simone M, Gentile M. Autism spectrum disorders in XYY syndrome: two new cases and systematic review of the literature. Eur J Pediatr 2014;173:277283.
4. RobinsonDO and Jacobs PA.The Origin of the Extra Y Chromosome in Males with a 47,XYY Karyotype. Human Molecular Genetics 1999;8:2205–2209.
5. https://rarediseases.org/rare-diseases/xyy-syndrome/
6. Jibson MD and Seyfried LS, editors. Diagnostic and Statistical Manual of Mental Disorders (DSM-5®), Fifth Edition, American Psychiatric Association, University of Michigan, Ann Arbor, MI, USA, 2015.
7. Bishop DV, Jacobs PA, Lachlan K, Wellesley D, Barnicoat A, Boyd PA, https://www. ncbi.nlm.nih.gov/pubmed/?term=Fryer%20A%5BAuthor%5D&cauthor=tru e&cauthor_ uid=20656736et al. Autism, language and communication in children with sex chromosome trisomies. Arch Dis Child 2011;96:954-959.
8. RossJL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, et al. Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter Syndrome Pediatrics 2012;129:769–778.
9. Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, et al. Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome. Dev Med Child Neurol 2012;54:1149-1156.
10. Jamain S, Quach H, Betancur C, Rastam M, Colineaux C, Gillberg IC, et al. Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism. Nat Genet 2003;34:27–29.
11. Ross JL, Tartaglia N, Merry DE, Dalva M, Zinn AR. Behavioral phenotypes in males with XYY and possible role of increased NLGN4Y expression in autism features. Genes Brain Behav 2015;14:137-144.
e-mail: prapamarilena@ hotmail.gr
Correspondence
Elisavet Kouvidi
T. +302106803130
F. +302106894778
e-mail: ekouvidi@hotmail. com
Marilena Prapa, Sophia Tzalavra, Chara Barbaressou, Christiana Prodromou, Panagiotis Shoretsianitis, Antonios Kourtesis
Abstract
Introduction: Echinococcosis or Hydatid disease is caused by the larvae of tapeworms Echinococcus. Humans are intermediate host in the life cycle of the parasite. The incidence of the disease is relatively low in our country, mostly presented in rural populations. The disease has different clinical characteristics between adults and pediatric patients.
Methods: In this retrospective study we analyzed cases of pulmonary disease hospitalized for postoperative care in Cardiothoracic Surgery Intensive Care Unit of the Children's Hospital Agia Sophia, during 2016.
Results: The study includes three male school age patients (MO 10.6 years), with multiple sites disease. All 3 patients had pulmonary involvement, two of them exhibit a solitary lung cyst (66.7%) and 1 (33.3%) bilateral cysts. The most common localization was lower lobe of the right lung (2 patients, 66.7%). Cough was the main symptom, and the chest x-ray was diagnostic in all patients. Two patients presented with complicated lung cyst. Surgical treatment was carried out in all 3 patients, with no mortality or recurrence.
Conclusions: Echinococcosis, although with low incidence, is endemic in our country, with a different clinical picture in children compared with adults. The disease exhibits long subclinical period, and the clinical manifestation are nonspecific. Diagnosis is made with radiological methods. Surgery is the treatment of choice for patients with pulmonary disease, with reliable results in children. Pulmonary Hydatid disease should be included in the differential diagnosis of pediatric patients with fever and cough, particularly if they come from a rural area.
Marilena Prapa
Sophia Tzalavra
Chara Barbaressou
Cardiothoracic Intensive Unit
Christiana Prodromou
Panagiotis Shoretsianitis
Antonios Kourtesis
Cardiothoracic unit St.
Sophia Children’s Hospital
Athens
1. Santivanez S, Garcia HH, Pulmonary cystic echinococcosis. Curr Opin Pulm Med 2010, 16:257-261
2. EUROPEAN CENTRE FOR DISEASE PREVENTION AND CONTROL, EU summary report on zoonoses, zoonotic agents and food-borne outbreaks 2014, EFSA journal, 2015; 13(12):4329
3. HELLENIC CENTRE FOR DISEASE CONTROL AND PREVENTION, Epidemiological data on echinococcosis in Greece, 2005-2009, KEELPNO, Athens, 2011
4. Montazeri et al, Comparison of Pulmonary Hydatid Disease between Children and Adults, Tanaffos 2007;6(1):13-18
5. Moro et al, Echinococcosis: a review, International Journal of Infectious Diseases (2009), 13,125-133
6. Πεχλιβανίδου
7. Gupta et al, Hydatid disease in children: Our experience, Formosan Journal of surgery (2014)47,211-220
8. Gottstein et al, Hydatic lung disease (echinococcosis/hydatidosis), Clin Chest Med 2002;23:39
9-. Kuzuku et al, Complicated Hydatid Cysts of the Lung: Clinical and Therapeutic Issues, Ann Thorac Surg 2004;77:1200-4
10. Mirshemirani et al, Surgical Treatment of Pulmonary Hydatid Cyst in 72 Children, Tanaffos 2009 8(1),56-61
11. Topcu et al, Surgical Treatment of Pulmonary Hydatid Cysts in children, J Thorac Cardiovasc Surg 2000; 120: 1097-101
12. Pejhan et al, Surgical Treatment of Complicated Pulmonary Hydatid Cyst, Tanaffos (2007) 6 (1),19-22
13. Morar et al, Pulmonary echinococcosis, Eur Respir J 2003;21:1069-1077
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