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1.
Leuk Lymphoma ; 63(3): 551-561, 2022 03.
Artigo em Inglês | MEDLINE | ID: mdl-34727830

RESUMO

Beyond MYC rearrangement, Burkitt lymphoma (BL) often presents with additional aberrations. Biopsy touch imprints from 72 children with BL were tested with interphase fluorescence in-situ hybridization (i-FISH) for MYC, BCL2, BCL6, IGH, IGK and IGL rearrangements and copy-number aberrations involving 1q21/1p32, 7cen/7q31, 9cen/9p21, 13q14/13q34 and 17cen/17p13. Diploid status deviations were investigated with chromosome enumeration probes. MYC rearrangement was demonstrated in all cases. Additional aberrations included +1q (21/72:29.2%), +7q (14/72:19.4%), 13q- (14/72:19.4%), 9p-(6/72:8.3%) and hyperdiploidy (6/72:8.3%). Advanced clinical stage IV, +7q and 9p- were associated with shorter overall survival, with stage IV and +7q retaining prognostic significance on multivariate analysis. No relapse or death was reported among the hyperdiploid cases. This i-FISH investigation provides information on the genetic profile of BL and may prove valuable for patients with no karyotype analysis. Demonstration of hyperdiploidy could evolve research on clonal evolution pathways and probably identify a subgroup of children with favorable prognosis.


Assuntos
Linfoma de Burkitt , Linfoma de Burkitt/diagnóstico , Linfoma de Burkitt/genética , Linfoma de Burkitt/patologia , Aberrações Cromossômicas , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Recidiva Local de Neoplasia
3.
Paediatr Perinat Epidemiol ; 30(3): 274-84, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26945670

RESUMO

BACKGROUND: Comparable evidence on adiposity inequalities in early life is lacking across a range of European countries. This study investigates whether low maternal education is associated with overweight and obesity risk in children from distinct European settings during early childhood. METHODS: Prospective data of 45 413 children from 11 European cohorts were used. Children's height and weight obtained at ages 4-7 years were used to assess prevalent overweight and obesity according to the International Obesity Task Force definition. The Relative/Slope Indices of Inequality (RII/SII) were estimated within each cohort and by gender to investigate adiposity risk among children born to mothers with low education as compared to counterparts born to mothers with high education. Individual-data meta-analyses were conducted to obtain aggregate estimates and to assess heterogeneity between cohorts. RESULTS: Low maternal education yielded a substantial risk of early childhood adiposity across 11 European countries. Low maternal education yielded a mean risk ratio of 1.58 (95% confidence interval (CI) 1.34, 1.85) and a mean risk difference of 7.78% (5.34, 10.22) in early childhood overweight, respectively, measured by the RII and SII. Early childhood obesity risk by low maternal education was as substantial for all cohorts combined (RII = 2.61 (2.10, 3.23)) and (SII = 4.01% (3.14, 4.88)). Inequalities in early childhood adiposity were consistent among boys, but varied among girls in a few cohorts. CONCLUSIONS: Considerable inequalities in overweight and obesity are evident among European children in early life. Tackling early childhood adiposity is necessary to promote children's immediate health and well-being and throughout the life course.


Assuntos
Escolaridade , Comportamento Materno , Mães , Obesidade Infantil/etiologia , Adulto , Pré-Escolar , Comparação Transcultural , Europa (Continente)/epidemiologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Comportamento Materno/psicologia , Mães/psicologia , Mães/estatística & dados numéricos , Obesidade Infantil/epidemiologia , Obesidade Infantil/prevenção & controle , Gravidez , Prevalência , Estudos Prospectivos , Fatores de Risco , Fatores Socioeconômicos
4.
Glob J Health Sci ; 8(2): 77-87, 2015 Jun 08.
Artigo em Inglês | MEDLINE | ID: mdl-26383219

RESUMO

Nowadays, thalassaemia major (TM) patients are surviving into mature young adulthood; however, no published instrument exists to measure the expectations' dimensionality among older TM patients in their thirties. This study seeks to validate a novel multidimensional expectation questionnaire suitable for TM patients (MEQ-TMP) reaching their fourth decade of life. In order to establish the psychometric properties of the instrument, data analysis was carried out. The principal component analysis revealed four components ('Supportive social network'; 'Raising one's own family'; 'Career advancement'; 'Ability of daily activities'). Their cumulative contribution rate was 66.32%. Cronbach's alpha for the total scale was 0.87. Each subscale had an alpha value above 0.70; three subscales were in the 0.80 range. MEQ-TMP reliability was proved to be good. The known-group method served as a strategy in examining the operationalisation of the questionnaire's constructs. The present MEQ-TMP, developed for the aged group of TM patients, would be a useful tool for clinical personnel providing care to TM patients in understanding their outlook on life as they are growing up, to have better psychosocial adjustment to illness chronicity, live life as normally as possible, and fulfill their ambitions; thus enhancing their life satisfaction and quality of life.


Assuntos
Qualidade de Vida , Inquéritos e Questionários , Talassemia beta/psicologia , Atividades Cotidianas , Adulto , Mobilidade Ocupacional , Família , Feminino , Grécia , Humanos , Masculino , Satisfação Pessoal , Análise de Componente Principal , Psicometria , Apoio Social
5.
J Epidemiol Community Health ; 69(9): 826-33, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25911693

RESUMO

BACKGROUND: A healthy start to life is a major priority in efforts to reduce health inequalities across Europe, with important implications for the health of future generations. There is limited combined evidence on inequalities in health among newborns across a range of European countries. METHODS: Prospective cohort data of 75 296 newborns from 12 European countries were used. Maternal education, preterm and small for gestational age births were determined at baseline along with covariate data. Regression models were estimated within each cohort and meta-analyses were conducted to compare and measure heterogeneity between cohorts. RESULTS: Mother's education was linked to an appreciable risk of preterm and small for gestational age (SGA) births across 12 European countries. The excess risk of preterm births associated with low maternal education was 1.48 (1.29 to 1.69) and 1.84 (0.99 to 2.69) in relative and absolute terms (Relative/Slope Index of Inequality, RII/SII) for all cohorts combined. Similar effects were found for SGA births, but absolute inequalities were greater, with an SII score of 3.64 (1.74 to 5.54). Inequalities at birth were strong in the Netherlands, the UK, Sweden and Spain and marginal in other countries studied. CONCLUSIONS: This study highlights the value of comparative cohort analysis to better understand the relationship between maternal education and markers of fetal growth in different settings across Europe.


Assuntos
Recém-Nascido Pequeno para a Idade Gestacional , Mães/estatística & dados numéricos , Resultado da Gravidez/epidemiologia , Nascimento Prematuro/epidemiologia , Comparação Transcultural , Escolaridade , Europa (Continente)/epidemiologia , Feminino , Humanos , Recém-Nascido , Modelos Lineares , Masculino , Gravidez , Estudos Prospectivos , Análise de Regressão , Fatores de Risco
6.
Artigo em Inglês | MEDLINE | ID: mdl-25176184

RESUMO

OBJECTIVE: To investigate the role of the Mediterranean diet and physical activity with relation to living environment and childhood asthma. METHODS: 1125 children (529 boys), 10 to 12 years old were recruited either in an urban environment (Athens, n = 700) or rural environment (n = 425) in Greece. A path analytic model was developed to assess the causal relation between urban environment and asthma prevalence (standardized ISAAC questionnaire), through the mediation of the Mediterranean diet (evaluated by the KIDMED food frequency questionnaire) and physical activity (evaluated by the PALQ physical activity questionnaire). RESULTS: The proposed model had a very good fit (χ2/df ratio =1.05, RMSEA=0.007, 90% confidence interval: 0.01 to 0.046, p=0.97, CFI = 0.98). A significant total positive effect was found between urban environment and asthma symptoms (standardized beta= 0.09, p<0.001). Adherence to the Mediterranean diet was related negatively with asthma symptoms (standardized beta = -0.224, p<0.001). An inverse mediating effect of the Mediterranean diet was observed for the urban environment - asthma relation (standardized beta=-0.029, p<0.001) while physical activity had no significant contribution (p=0.62), adjusted for several confounders. CONCLUSIONS: The Mediterranean diet may protect against the harmful effect of urban environment on childhood asthma.


Assuntos
Asma/epidemiologia , Dieta Mediterrânea , Meio Ambiente , Atividade Motora/fisiologia , Características de Residência , Criança , Feminino , Grécia/epidemiologia , Humanos , Estilo de Vida , Masculino , Prevalência , Características de Residência/estatística & dados numéricos , População Rural/estatística & dados numéricos , Inquéritos e Questionários , População Urbana/estatística & dados numéricos
7.
Med Mycol ; 52(7): 715-22, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25056962

RESUMO

Aspergillus fumigatus isolation in cultures from respiratory specimens of patients with cystic fibrosis (CF) is quite common; however, the role of A. fumigatus as a pathogen and whether its presence is associated with progression of pulmonary disease remain unclear. We investigated the association between inhaled corticosteroids and the recovery of A. fumigatus by performing a retrospective cohort study of CF patients born between 1988 and 1996. The patients' medical records from their first visit to the CF Center until December 2010 were reviewed. Outcomes were the occurrence of A. fumigatus first isolation, chronic colonization, or the last visit at the CF Center. A number of possible confounders were included in the multivariate logistic regression analysis in order to identify an independent association between inhaled corticosteroids and colonization status. A total of 121 patients were included in the study. Thirty-nine patients (32.2%) had at least one positive culture and 14 (11.6%) developed chronic colonization. Multivariate logistic regression analysis was used to determine the independent effect of inhaled corticosteroids on the odds of first isolation (odds ratio [OR], 1.165; 95% confidence interval [CI], 1.015-1.337; P = 0.029) and chronic colonization (OR, 1.180; 95% CI, 1.029-1.353; P = 0.018). In conclusion, A. fumigatus first isolation and chronic colonization are associated with the duration of inhaled corticosteroid treatment.


Assuntos
Corticosteroides/uso terapêutico , Aspergillus fumigatus/isolamento & purificação , Portador Sadio/epidemiologia , Fibrose Cística/complicações , Fibrose Cística/tratamento farmacológico , Imunossupressores/uso terapêutico , Aspergilose Pulmonar/epidemiologia , Administração por Inalação , Adolescente , Corticosteroides/efeitos adversos , Adulto , Portador Sadio/microbiologia , Estudos de Coortes , Feminino , Humanos , Imunossupressores/efeitos adversos , Masculino , Modelos Estatísticos , Aspergilose Pulmonar/microbiologia , Estudos Retrospectivos , Fatores de Tempo , Adulto Jovem
8.
J Clin Immunol ; 34(7): 836-43, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24981038

RESUMO

Primary Immunodeficiencies (PID) represent a group of heterogeneous immune diseases with important biological significance. We reviewed the records of children diagnosed with PID in the Referral Center for PID in our country in order to describe the epidemiological, clinical and laboratory characteristics of immunodeficient patients. During a 30-year period, 147 patients (101 males, 68.7 %), with a mean age of 6.5 years at the time of diagnosis, were diagnosed with PID. The most prevalent diagnoses of PID were: "Combined Immunodeficiency" in 46 (31.3 %) patients, "Well-defined immunodeficiency syndrome" in 35 (23.1 %) patients, "Predominantly antibody deficiency" in 30 (20.4 %) patients and "Congenital defect of phagocyte function or both" in 28 (19 %) patients. There was a higher prevalence of males with "Combined immunodeficiency" (p < 0.033) and "Predominantly antibody deficiency" (p < 0.02) compared to females. The median age of children at the onset of symptoms and at the time of diagnosis was 0.5y (IQR: 0.1-2.5) and 2y (IQR: 0.6-7.2), respectively. The median diagnostic delay was 0.9y (IQR: 0.2-4.8). This period was shorter for patients with "Combined immunodeficiency" [median 0.3y (IQR: 0.1-1)], and longer for those with "Predominantly antibody deficiency" [median 3.2y (IQR: 0.2-5.9) or "Disease of immune dysregulation" [median 3.2y (IQR: 0.1-6.6)]. Comparing the rates in our population with those of the European Registry (ESID), the rates of "Combined immunodeficiencies", "Well-defined syndromes" and "Congenital birth defects and/or function of phagocytes" were significantly higher in this study (p <0,001). PID registry analysis improves knowledge in the field of Immunology and enhances awareness, early detection, diagnosis, and management of this rare but significant group of diseases.


Assuntos
Síndromes de Imunodeficiência/epidemiologia , Grupos Populacionais , Sistema de Registros , Fatores Sexuais , Criança , Pré-Escolar , Diagnóstico Precoce , Europa (Continente) , Grécia , Troca de Informação em Saúde , Humanos , Síndromes de Imunodeficiência/imunologia , Lactente , Masculino , Prevalência , Encaminhamento e Consulta
9.
J Pediatr Adolesc Gynecol ; 27(4): 232-9, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25016561

RESUMO

STUDY OBJECTIVE: To assess initiation of sexual activity and contraception methods used among Greek adolescents. To determine the association of adolescents' emotional and behavioral status with their sexual activity. DESIGN: A descriptive cross-sectional survey was conducted. SETTING, PARTICIPANTS: The population (N = 1074, age 14-16) consisted of a random sample, stratified according to locality and population density, of 20 public junior high and high schools located in the urban district of Athens, Greece. INTERVENTIONS: Anonymous self-reported questionnaires were used to assess sexual activity choices and contraception methods. The Youth Self-Report questionnaire was used to evaluate the psychosocial competencies and difficulties of Greek adolescents. MEASURES: Analyses included frequencies with chi-square tests and multivariate logistic regression analysis. MAIN OUTCOME: Factors that may influence sexual engagement of Greek adolescents were assessed. RESULTS: Of the adolescents who completed the questionnaire 21.8% reported having experienced sexual intercourse. The male/female ratio was 3/1 (P < .001) and the mean age of sexual debut was 14.5 ± 0.9 years. Condoms were the most preferred contraceptive method (79.9%), followed by withdrawal (38.9%). Emergency contraception was used by 9.6% of participants. Adolescents with separated, divorced or with a deceased parent, and non-Greek nationality have higher possibility of being sexually active. Adolescents who reported sexual intercourse had significantly higher score of thought problems (ß = 1.07, SE = 0.35, P = .002), attention difficulties (ß = 0.67, SE = 0.29, P = .022), delinquent behavior problems (ß = 2.37, SE = 0.34, P < .001), aggressive behavior (ß = 1.97, SE = 0.48, P < .001), and externalizing problems (ß = 4.18, SE = 0.78, P < .001). CONCLUSIONS: Engagement in sexual activities was significantly associated with psychosocial difficulties among adolescents living in Greece.


Assuntos
Coito , Comportamento Contraceptivo/estatística & dados numéricos , Conhecimentos, Atitudes e Prática em Saúde , Delinquência Juvenil/psicologia , Sexualidade/psicologia , Adolescente , Fatores Etários , Agressão/psicologia , Consumo de Bebidas Alcoólicas , Transtornos Cognitivos/psicologia , Coito/psicologia , Coito Interrompido , Preservativos/estatística & dados numéricos , Anticoncepção Pós-Coito/estatística & dados numéricos , Estudos Transversais , Feminino , Grécia , Humanos , Comportamento de Busca de Informação , Masculino , Estado Civil/estatística & dados numéricos , Pais , Assunção de Riscos , Inquéritos e Questionários , Sexo sem Proteção
10.
Biopsychosoc Med ; 8: 13, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-24940354

RESUMO

BACKGROUND: To assess psychosocial functioning and distress of children and adolescents with cystic fibrosis compared to healthy controls. METHODS: Thirty-six patients with cystic fibrosis aged 8-18 years (24 boys, mean age ± SD: 11.5 ± 2.6 years) and 31 sex- and age-matched healthy control subjects (18 boys, mean age ± SD: 12 ± 2.5 years) were enrolled in the study. In order to assess the self-esteem, social adjustment, and family functioning of these young people, the Culture-free Self-esteem Inventory, the Social Adjustment Scale-Self-Report, and the Family Assessment Device were administered. Emotional/ behavioral problems were assessed through the Youth Self Report and the Child Behavior Checklist given to both the subjects and their parents. RESULTS: No significant differences were found for self-esteem between the two study groups. Regarding social adjustment, children with cystic fibrosis reported significantly worse friendship and overall adjustment (P < 0.05). Moreover, no difference was found in the levels of family functioning between the two groups. No significant differences between the groups were found in emotional/ behavioral problems from the self-reports. On the contrary, parents of children with cystic fibrosis reported significantly higher levels of withdrawal/ depression, thought problems, and delinquent behavior (P ≤ 0.01) as compared to controls. CONCLUSIONS: Children and adolescents with cystic fibrosis appear to be a psychosocially vulnerable group. A biopsychosocial approach should emphasize the assessment and treatment of the psychosocial distress of these patients alongside multiple somatic treatments.

11.
J Pediatr Endocrinol Metab ; 27(7-8): 685-92, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24756049

RESUMO

OBJECTIVE: The aim of this study was to assess possible associations between potential risk factors for fractures and their occurrence in otherwise healthy Greek male adolescents. SUBJECTS: A total of 63 male adolescents participated in the study, 21 males with a history of at least one fracture and 42 healthy male controls. METHODS: Each participant was assessed for physical and pubertal status, hormonal profile, bone mineral density, bone turnover indices, and dietary habits. RESULTS: The lower bone mineral density-z scores and increasing testosterone and serum collagen type 1 cross-linked C-telopeptide levels were related to fracture risk, whereas increased insulin-like growth factor-1, soluble receptor activator of nuclear factor kappa-B (factor-κB) ligand, and soluble receptor activator of nuclear factors-κB ligand/osteoprotegerin levels were protective for fractures. CONCLUSIONS: The findings indicate a potential 'added value' of hormonal parameters and bone markers to bone mineral density for evaluating fracture risk in healthy male adolescents.


Assuntos
Densidade Óssea , Osso e Ossos/metabolismo , Fraturas Ósseas/etiologia , Adolescente , Estudos de Casos e Controles , Colágeno Tipo I/metabolismo , Humanos , Masculino , Peptídeos/metabolismo , Risco
12.
BMC Pediatr ; 14: 40, 2014 Feb 12.
Artigo em Inglês | MEDLINE | ID: mdl-24521451

RESUMO

BACKGROUND: Although several determinants of global developmental delay (GDD) have been recognized, a significant number of children remain without definitive etiologic diagnosis. The objective of this study was to assess the effect of various prenatal and perinatal factors on the severity and outcome of developmental delay without definitive etiologic yield. METHODS: From March 2008 to February 2010, 142 children with developmental quotient (DQ) <70 and without definitive etiologic diagnosis, were included. Prenatal and perinatal risk factors known to be associated with disordered neonatal brain function were identified. Participants underwent a thorough investigation, an individualized habilitation plan was recommended, and the children were followed-up regularly for a period of 2 < years. The effect of prenatal and perinatal risk factors on the severity and outcome of GDD was assessed by regression analysis. RESULTS: The mean age at enrolment was 31 ± 12 < months, and the mean DQ 52.2 ± 11.4. Prematurity and intrauterine growth restriction (IUGR) were found to be independently associated with lower DQ values. The mean DQ after the 2-year follow-up was 62.5 ± 12.7, and the DQ difference from the enrollment 10.4 ± 8.9 (median 10; range-10 to 42). DQ improvement (defined as a DQ difference?≥?median) was noted in 52.8% of the children. IUGR, low socio-economic status, and poor compliance to habilitation plan were found to be independently associated with poorer developmental outcomes. CONCLUSIONS: Prematurity and IUGR were found to be significantly and independently related to the severity of GDD in cases without definitive etiologic yield. Poorer 2-year developmental outcome was associated with IUGR, low socioeconomic status and non compliance to habilitation plan. Prematurity was a significant determinant of the outcome only in association with the above mentioned factors.


Assuntos
Deficiências do Desenvolvimento/diagnóstico , Pré-Escolar , Deficiências do Desenvolvimento/etiologia , Feminino , Humanos , Masculino , Prognóstico , Estudos Prospectivos , Fatores de Risco , Índice de Gravidade de Doença
13.
Int J Adolesc Med Health ; 26(1): 85-92, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-23612633

RESUMO

The health effects of eating disorders (EDs) in adolescence have been widely studied, but their impact on present adolescent psychosocial adjustment and development have been overseen. This study aimed to investigate the association between EDs and career aspirations in middle adolescence. The participants were 147 adolescents diagnosed with EDs. Participants reported on their future career aspirations, and these were coded according to the International Standard Classification of Education of 1997. Of the participants, 83 adolescents were followed up longitudinally, and their aspirations were reassessed and compared for stability across the two assessments. Moreover, participants' career aspirations were compared to those of healthy (non-ED) best-friend controls. Health-related and social-behavioral science careers were chosen significantly more by adolescents with an ED as compared to their non-ED counterparts. For adolescents with an ED, career choices were consistent across reassessments. These findings suggest that adolescents with an ED gravitate toward careers associated with their pathology, namely, both facets of their mind-body pathology. This finding may indicate restricted identity development for adolescents with an ED. Suggestions for treatments protocols to include identity exploration are discussed.


Assuntos
Escolha da Profissão , Transtornos da Alimentação e da Ingestão de Alimentos/psicologia , Autoimagem , Adolescente , Índice de Massa Corporal , Escolaridade , Feminino , Grécia , Humanos , Masculino , Fatores Socioeconômicos
14.
Hormones (Athens) ; 13(4): 509-18, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25555183

RESUMO

OBJECTIVE: Although there is scientific evidence that stress adversely affects metabolic control, only a few studies have examined the role of stress management in improving glycemic control in patients with type 2 diabetes mellitus (DM). In this study, we investigated the effect of a relaxation technique on levels of stress and glycemic control. DESIGN: A total of 53 patients with type 2 DM were randomly assigned to undergo either an 8-week stress management program, consisting of 10 min of diaphragmatic breathing and 15 min of progressive muscle relaxation twice per day (n=25, intervention group), or not (n=28, control group). Perceived stress, health locus of control and HbA1c were primary outcomes and were measured before and after intervention. RESULTS: In the intervention group, perceived stress score (PSS) and HbA1c had decreased significantly (P<0.05) by the end of the program. Specifically concerning the PSS, the higher the initial levels of perceived stress the greater the benefit of the intervention. No other significant changes were found. CONCLUSIONS: Our results show a beneficial role of stress management for patients with type 2 DM, as regards both stress levels and glycemic control. It is recommended to consider this type of treatment as an adjunct to conventional therapy. We deem that our study could encourage future studies in this area with larger samples, longer duration and more objective measurements.


Assuntos
Diabetes Mellitus Tipo 2/psicologia , Diabetes Mellitus Tipo 2/terapia , Estresse Psicológico/terapia , Idoso , Assistência Ambulatorial/métodos , Diabetes Mellitus Tipo 2/metabolismo , Feminino , Hemoglobinas Glicadas/metabolismo , Nível de Saúde , Humanos , Hidrocortisona/metabolismo , Controle Interno-Externo , Masculino , Pessoa de Meia-Idade , Comportamento de Redução do Risco
15.
J Clin Immunol ; 33(8): 1302-9, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24081483

RESUMO

Chronic Granulomatous Disease (CGD) is an uncommon primary immunodeficiency caused by the absence or dysfunction of one of NADPH oxidase subunits, with heterogeneous genetic aetiologies. The aim of this study was the CGD patient registry in Greece, the identification of the responsible genotype and the potential correlation with the patient's clinical phenotype. Medical charts of 24 CGD patients, investigated by NBT test or DHR for NADPH oxidase activity, Western blot analysis for NADPH oxidase component expression and DNA sequencing (pyro- and cycle sequencing) for mutation analysis, were reviewed. All patients, but one, were classified into the different types of CGD. Sixteen patients from 14 unrelated families had X-linked CGD (66.7 %), four had mutations in the NCF1 gene (19 %), and three, from two unrelated families, had mutations in NCF2 (9.5 %) [Corrected]. Fifteen mutations were detected in the CYBB gene, including nonsense (53.8 %), splice site (30.8 %) and missense mutations (7.7 %), and deletions (7.7 %). Two novel mutations were identified; one in CYBB and one in NCF1. Carrier detection for X-CGD revealed that the de novo mutation rate was about 7 %. Prenatal diagnosis identified one affected male in three male fetuses tested. In both the X-linked and the autosomal recessive (AR-CGD) group, the gastrointestinal and respiratory manifestations were more common, followed by lympadenopathy in X-CGD and skin infections in the AR-CGD group. The patients with a mutation in CYBB had a wider variability of clinical manifestations and earlier diagnosis (4.6 years) compared to the AR-CGD group (12.9 years). The incidence of CGD in Greece is estimated at 0.90 (95 % CI 0.89-0.91) per 100,000 live births for the last decade.


Assuntos
Doença Granulomatosa Crônica/diagnóstico , Síndromes de Imunodeficiência/diagnóstico , Sistema de Registros , Doença Granulomatosa Crônica/genética , Grécia , Humanos , Síndromes de Imunodeficiência/genética , Masculino , Glicoproteínas de Membrana/genética , Mutação , NADPH Oxidase 2 , NADPH Oxidases/genética , Encaminhamento e Consulta
16.
Pediatr Cardiol ; 34(6): 1476-81, 2013 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-23463134

RESUMO

Kawasaki disease (KD) is an acute systemic vasculitis of childhood. The diagnosis is based on clinical criteria. However, the presentation of KD is incomplete/atypical for approximately 20 % of patients. Kawasaki disease is complicated with coronary artery lesions (CALs) and considered the most common cause of acquired heart disease in children. The medical records of children discharged with KD from a tertiary pediatric hospital in Athens, Greece, during a decade (2001-2010) were retrospectively analyzed. During the study period, KD was diagnosed for 86 children younger than 14 years of age. Complete diagnostic criteria were fulfilled by 64 of the children (74.4 %), whereas 25.6 % were considered incomplete cases. Cardiovascular complications were detected in 48 children (55.8 %) and CALs in 28 children (32.6 %). The prevalence of CALs did not differ significantly between complete and incomplete/atypical KD (42.2 vs 4.5 %; P = 0.001). Logistic regression analysis showed that erythema in the lips and oral cavity was associated with the development of CALs [odds ratio (OR), 3.03; 95 % confidence interval (CI), 1.051-8.783; P = 0.040]. Conversely, children with incomplete/atypical KD (OR, 0.092; 95 % CI, 0.010-0.816; P = 0.032) and previous antibiotic treatment (OR, 0.17; 95 % CI, 0.036-0.875; P = 0.034) were less likely to experience CALs. Children with an incomplete/atypical presentation of KD or before antibiotic treatment may be at lower risk for the development of CALs. Future multicenter studies may help to establish this association better.


Assuntos
Doença da Artéria Coronariana/epidemiologia , Síndrome de Linfonodos Mucocutâneos/complicações , Pré-Escolar , Intervalos de Confiança , Doença da Artéria Coronariana/diagnóstico , Doença da Artéria Coronariana/etiologia , Feminino , Seguimentos , Grécia/epidemiologia , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Incidência , Lactente , Masculino , Síndrome de Linfonodos Mucocutâneos/diagnóstico , Síndrome de Linfonodos Mucocutâneos/tratamento farmacológico , Razão de Chances , Prognóstico , Estudos Retrospectivos , Fatores de Tempo
17.
J Pediatr Endocrinol Metab ; 26(3-4): 239-46, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23327822

RESUMO

OBJECTIVE: To study bone density in healthy Greek girls going through puberty and determine the influence of developmental and hormonal factors. DESIGN: Sixty healthy female adolescents (average age of 13.88±2.53 years) were included. Bone mineral density (BMD) was measured at the hip by DXA (dual energy X-ray absorptiometry). Pubertal stage was determined by Tanner's criteria. Creatinine, calcium, phosphorus, parathyroid hormone, calcitonin and 25-OH-vitamin D levels were measured in blood samples. The European physical fitness test battery (EUROFIT) was used to assess the parameters of physical fitness that are related to strength. RESULTS: Adolescent girls had a mean (±SD) BMD value of 0.947±0.144 g/cm2 at the total hip (total hip BMD). Tanner's stage for pubic hair and body mass index (BMI) constituted significant, positive and independent predicting factors for bone density of total hip. Deficiency of 25OH-vitamin D was a negative predicting factor of bone density. Blood levels of calcium and phosphorus, the hours that adolescents devoted to sports, and handgrip strength, were independent predicting factors of bone density at the hip. CONCLUSIONS: Bone density and consequently bone health is determined by factors that can be modified in order to achieve optimal bone growth and reduce the risk of fractures and osteoporosis in later life.


Assuntos
Densidade Óssea/fisiologia , Desenvolvimento Ósseo/fisiologia , Osso e Ossos/fisiologia , Hormônios/fisiologia , Puberdade/fisiologia , Absorciometria de Fóton , Adolescente , Antropometria , Osso e Ossos/diagnóstico por imagem , Estudos Transversais , Feminino , Grécia , Força da Mão/fisiologia , Humanos , Aptidão Física/fisiologia
18.
Eur J Nutr ; 52(3): 963-73, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-22752261

RESUMO

PURPOSE: To determine fat and fatty acid (FA) profile of Greek mother's milk during the first 6 months of exclusive breastfeeding and to examine their correlation with dietary and other maternal characteristics. METHODS: Milk samples and dietary records were obtained by mothers at 1st (n = 64), 3rd (n = 39), and 6th (n = 24) month postpartum. Fatty acid methylesters were separated and quantified by gas chromatography (GC/FID) and fat concentration by the creamatocrit method. RESULTS: At the 3 time points, milk fat concentration ranged between 26.3 and 30.2 g/l (p > 0.05). Milk's FA composition was expressed as weight percentage (% wt/wt of all FAs detected with a C6 to C22 chain length). Maternal macronutrient and FA dietary intake, as well as the FAs' profile in maternal milk, remained constant over the 6 months. Saturated fatty acids (SFA), monounsaturated fatty acids (MUFA), and polyunsaturated fatty acids (PUFA) represented approx. 46, 35, and 18 % of all FAs, while ω6 and ω3 PUFA were 17.4 and 0.8 %, respectively. Body weight gain during pregnancy was positively related to breast milk's concentration in SFA (p < 0.01) and negatively to milk's concentration in MUFA (p < 0.01). Age and parity were also independent factors affecting the FA profile in maternal milk. A strong positive effect was found during the first month postpartum, between mother's PUFA intake and the concentration of PUFA, ω3 fatty acids, docosahexaenoic and linoleic acid (LA) in the milk, while MUFA intake was strongly correlated with the concentration of PUFA, ω6 fatty acids, and LA. CONCLUSION: This study is among few in literature to determine FA profile of breast milk in European populations and verified certain dietary factors that influence this profile. Maternal PUFA and MUFA intake were found to be important factors affecting breast milk's FA profile.


Assuntos
Dieta Mediterrânea , Gorduras na Dieta/metabolismo , Ácidos Graxos/metabolismo , Lactação/metabolismo , Fenômenos Fisiológicos da Nutrição Materna , Leite Humano/metabolismo , Adulto , Aleitamento Materno , Registros de Dieta , Dieta Hiperlipídica/etnologia , Dieta Mediterrânea/etnologia , Gorduras na Dieta/administração & dosagem , Gorduras na Dieta/análise , Ácidos Graxos/administração & dosagem , Ácidos Graxos/análise , Ácidos Graxos Monoinsaturados/administração & dosagem , Ácidos Graxos Monoinsaturados/análise , Ácidos Graxos Monoinsaturados/metabolismo , Ácidos Graxos Ômega-3/administração & dosagem , Ácidos Graxos Ômega-3/análise , Ácidos Graxos Ômega-3/metabolismo , Ácidos Graxos Ômega-6/administração & dosagem , Ácidos Graxos Ômega-6/análise , Ácidos Graxos Ômega-6/metabolismo , Feminino , Grécia , Humanos , Leite Humano/química , Gravidez , Estudos Prospectivos , Aumento de Peso
19.
Gynecol Oncol ; 126(2): 207-10, 2012 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22561405

RESUMO

PURPOSE: Adolescents are a vulnerable group with regard to sexually transmitted infections, including Human Papilloma Virus (HPV). This is thought to be both because of their more liberal sexual behavior and also the relative immaturity of their genital tract. The aim of the study was to examine trends in HPV infection among sexually active adolescents attending for a sexual health screen. METHODS: Sexually active adolescents were offered cervical screening, HPV typing and conventional genital cultures as part of a sexual health prevention protocol. Participating adolescents also completed a sexual health questionnaire. RESULTS: Between January 2008 and July 2011, 149 sexually active girls were examined for reproductive health issues (mean age 17.3 years). 62 (42%) tested positive for HPV DNA, 30 were infected by multiple types and 54 had at least one high risk type identified. The most commonly identified HPV DNA was for low risk type 42 (15 cases, 7.8%), followed by high risk types 51 (14 cases, 7.3%) and 59 (11 cases, 5.7%). E6-E7 mRNA expression was detected in 16 girls (11%), of which half were for HPV 16. Girls who tested positive for HPV DNA and mRNA had similar age at sexual debut with those that tested negative (15.1 years in all groups) but had on average more sexual partners (4.1 vs 1.9 p=0.007). Only 9 girls in this cohort had been vaccinated against HPV. Approximately half of the girls reported using inadequate or no contraception. CONCLUSIONS: HPV infection rate was high in our sample. Furthermore a high percentage was infected with high risk types and a proportion of girls demonstrated mRNA HPV expression. As age at first sexual intercourse drops, vaccination against HPV and sexual education should be instituted in early adolescence, in order to reduce long term reproductive sequelae of unsafe sexual practices.


Assuntos
Colo do Útero/virologia , Infecções por Papillomavirus/virologia , Comportamento Sexual , Infecções Sexualmente Transmissíveis/virologia , Adolescente , Colo do Útero/patologia , Feminino , Humanos , Infecções por Papillomavirus/patologia , Infecções por Papillomavirus/transmissão , Fatores de Risco , Infecções Sexualmente Transmissíveis/patologia , Infecções Sexualmente Transmissíveis/transmissão
20.
J Child Neurol ; 26(2): 199-204, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-20921568

RESUMO

We examined the prevalence of inattention, hyperactivity, and impulsivity (attention-deficit hyperactivity disorder [ADHD]-like symptoms) at 7 and 18 years in a Greek birth cohort, and associated factors. Information was derived from a representative sample of 2695 Greek individuals followed-up from birth to18 years through 3 questionnaire surveys (1983, 1990, 2001). At 7 years, the prevalence of hyperactivity was 7%, inattention 9.5%, and impulsivity 7% for all children, while a significant decrease was observed at 18 years. Adverse perinatal factors, poor academic performance, fights or quarrels with peers, comorbidity, and a higher frequency of physical punishment and accidents during childhood were found to be associated with ADHD-like symptoms at 7 years. Factors identified to be related with these symptoms at 18 years included male gender, maternal stress, smoking during pregnancy, physical punishment, and psychological problems in childhood. These longitudinal findings provide significant information for health and educational planning in Greece and other countries.


Assuntos
Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Hipercinese/epidemiologia , Comportamento Impulsivo/epidemiologia , Adolescente , Transtorno do Deficit de Atenção com Hiperatividade/diagnóstico , Criança , Pré-Escolar , Feminino , Seguimentos , Grécia/epidemiologia , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Gravidez , Prevalência , Fatores de Risco , Fatores Sexuais , Fumar/epidemiologia , Inquéritos e Questionários
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