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PURPOSE: 17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management. METHODS: Data from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated. RESULTS: Mean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment. CONCLUSION: This study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.
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Hiperplasia Suprarrenal Congénita , Adolescente , Niño , Preescolar , Femenino , Humanos , Masculino , Hiperplasia Suprarrenal Congénita/genética , Estudios de Cohortes , Hipertensión/genética , Hipopotasemia/genética , Pubertad Tardía/genética , Esteroide 17-alfa-Hidroxilasa/genética , Turquía/epidemiologíaRESUMEN
BACKGROUND/AIM: Diabetes has become a global epidemic, necessitating effective self-management strategies. This is particularly crucial for parents of children with type 1 diabetes mellitus, as they must make numerous daily decisions and perform complex care activities. Therefore, the aim of this study was to develop a comprehensive diabetes self-management scale specifically for parents of children with type 1 diabetes. This scale aims to holistically address behaviors impacting diabetes self-management and to evaluate its psychometric properties. MATERIALS AND METHODS: A methodological, correlational, and cross-sectional study was conducted with a sample of 190 parents of children with type 1 diabetes mellitus. The scale items were reviewed by five experts to ensure they adequately covered the parents' evaluation of their children's diabetes self-management. Following this, a Turkish language expert assessed the draft scale for language accuracy, comprehensibility, and grammar. The data were analyzed using descriptive statistics (numbers and percentages), Cronbach's α reliability coefficient, factor analysis, and correlation analysis. RESULTS: The Cronbach's alpha for the overall scale was 0.893, and the Cronbach's alpha for the subscales was between 0.757 and 0.845. The item-total score correlations ranged between 0.408 and 0.660 (p < .05). The exploratory factor analysis showed that the scale explained 61.427% of the total variance, and the factor loadings of items ranged from 0.574 to 0.859. The confirmatory factor analysis also showed that the factor loadings of the scale items ranged from 0.574 to 0.859. CONCLUSION: The validity and reliability analyses revealed that the scale is a valid and reliable measurement tool for the Turkish culture.
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Diabetes Mellitus Tipo 1 , Padres , Psicometría , Automanejo , Humanos , Diabetes Mellitus Tipo 1/psicología , Diabetes Mellitus Tipo 1/terapia , Psicometría/métodos , Masculino , Femenino , Estudios Transversales , Automanejo/psicología , Padres/psicología , Niño , Reproducibilidad de los Resultados , Encuestas y Cuestionarios , Turquía , Adulto , Adolescente , Análisis Factorial , PreescolarRESUMEN
BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2. Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. METHODS: We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data. The deleterious effect of selected variants of uncertain significance was evaluated by cellular assays. MAIN RESULTS: We identified pathogenic variants in EVC/EVC2 in affected individuals from 41 of the 43 families with EvC. Patients from each of the two remaining families were found with a homozygous splicing variant in WDR35 and a de novo heterozygous frameshift variant in GLI3, respectively. The phenotype of these patients showed a remarkable overlap with EvC. A novel EVC2 C-terminal truncating variant was identified in the family with WAD. Deep phenotyping of the cohort recapitulated 'classical EvC findings' in the literature and highlighted findings previously undescribed or rarely described as part of EvC. CONCLUSIONS: This study presents the largest cohort of living patients with EvC to date, contributing to better understanding of the full clinical spectrum of EvC. We also provide comprehensive information on the EVC/EVC2 mutational landscape and add GLI3 to the list of genes associated with EvC-like phenotypes.
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Síndrome de Ellis-Van Creveld , Linaje , Fenotipo , Humanos , Síndrome de Ellis-Van Creveld/genética , Síndrome de Ellis-Van Creveld/patología , Masculino , Femenino , Niño , Proteínas de la Membrana/genética , Mutación , Preescolar , Proteína Gli3 con Dedos de Zinc/genética , Adolescente , Adulto , Proteínas del Tejido Nervioso/genética , Estudios de Cohortes , Lactante , Proteínas/genética , Estudios Retrospectivos , Péptidos y Proteínas de Señalización IntercelularRESUMEN
The molecular programs involved in regulatory T (Treg) cell activation and homeostasis remain incompletely understood. Here, we show that T cell receptor (TCR) signaling in Treg cells induces the nuclear translocation of serine/threonine kinase 4 (Stk4), leading to the formation of an Stk4-NF-κB p65-Foxp3 complex that regulates Foxp3- and p65-dependent transcriptional programs. This complex was stabilized by Stk4-dependent phosphorylation of Foxp3 on serine-418. Stk4 deficiency in Treg cells, either alone or in combination with its homolog Stk3, precipitated a fatal autoimmune lymphoproliferative disease in mice characterized by decreased Treg cell p65 expression and nuclear translocation, impaired NF-κB p65-Foxp3 complex formation, and defective Treg cell activation. In an adoptive immunotherapy model, overexpression of p65 or the phosphomimetic Foxp3S418E in Stk3/4-deficient Treg cells ameliorated their immune regulatory defects. Our studies identify Stk4 as an essential TCR-responsive regulator of p65-Foxp3-dependent transcription that promotes Treg cell-mediated immune tolerance.
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Factores de Transcripción Forkhead , FN-kappa B , Proteínas Serina-Treonina Quinasas , Linfocitos T Reguladores , Animales , Factores de Transcripción Forkhead/genética , Factores de Transcripción Forkhead/metabolismo , Homeostasis , Ratones , FN-kappa B/genética , FN-kappa B/metabolismo , Proteínas Serina-Treonina Quinasas/genética , Proteínas Serina-Treonina Quinasas/metabolismo , Receptores de Antígenos de Linfocitos T/genética , Serina , Linfocitos T Reguladores/citología , Factor de Transcripción ReIARESUMEN
BACKGROUND: This study aimed to evaluate the nutritional status and body composition in children with cystic fibrosis (CF), in accordance with the new nutritional targets defined by European Society for Clinical Nutrition and Metabolism (ESPEN), the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) and the European Cystic Fibrosis Society (ECFS) 2016. METHODS: In this cross-sectional study, data were collected prospectively in a single centre. A record was made for a total of 95 patients with CF of clinical data. Anthropometric data were evaluated using the World Health Organization growth standards. The bone mineral density (BMD) z-score was adjusted for height by measuring dual-energy X-ray absorptiometry (DXA). The speed of sound z-score values were measured with quantitative ultrasound (QUS). RESULTS: The nutritional status was normal in 37.9% of patients aged < 2 years and 33.3% of patients aged 2-18 years. When the DXA BMD z-score values were corrected for height, it was determined that the BMD deficit was less. The calcaneus QUS SOS z-score mean value was lower than the mean height for age z-score adjusted BMD (BMDHAZ). CONCLUSIONS: The malnutrition rates of CF patients were higher than the rates previously reported in literature. As there are insufficient nutritional data in Turkey, there is a need for multi-centre studies to determine the frequency of malnutrition according to the new classifications. It is clear that QUS measurements cannot replace DXA in the diagnosis of osteopenic bone disease. However, when low values are determined with QUS as the first recommended measurement in the screening of bone status, it can be considered appropriate to confirm the status with DXA.
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Fibrosis Quística , Desnutrición , Absorciometría de Fotón , Densidad Ósea , Niño , Estudios Transversales , Fibrosis Quística/complicaciones , Humanos , Desnutrición/epidemiología , Estado Nutricional , UltrasonografíaRESUMEN
Objectives Investigation of the association between epicardial adipose tissue thickness (EATT) and P-wave dispersion (Pd), QT dispersion (QTd), corrected QT dispersion (QTcd) and Tp-e interval in children with Type 1 Diabetes Mellitus (T1DM) was aimed. Methods Forty-one children with T1DM and 41 age- and gender-matched healthy children were included in the study. Demographical characteristics of all cases were examined. In echocardiography; in addition to conventional echocardiographic measurements, end-systolic EATT was measured from right ventricular free wall. In electrocardiogram; Pd, QTd, QTcd and Tp-e interval durations, as well as Tp-e/QT and Tp-e/QTc ratios were calculated. Correlation values between EATT and electrocardiographic parameters were also noted. Results Mean age of the patient group was determined to be 12.43 ± 3.04 years and that of the control group was determined to be 12.08 ± 2.56 years. There was no significant difference between the groups in regard to age, gender, body weight, height and body mass index. In the patient group; EATT, Pd, QTd, QTcd and Tp-e interval were determined to be significantly higher compared to the control group. In the patient group, no significant correlation was determined between EATT and Pd, QTd, QTcd and Tp-e. However, when both patient and control groups were evaluated together, a statistically significant positive correlation was determined between EATT and Pd, QTd, QTcd and Tp-e. Conclusions In children with T1DM, an increase in epicardial adipose tissue thickness and in risk of cardiac arrhythmias has been demonstrated. To reveal the possible unfavorable effects of EATT on cardiac conduction system in T1DM patients needs further studies.
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Tejido Adiposo/patología , Adiposidad/fisiología , Diabetes Mellitus Tipo 1/diagnóstico , Sistema de Conducción Cardíaco/metabolismo , Pericardio/patología , Tejido Adiposo/diagnóstico por imagen , Tejido Adiposo/metabolismo , Adolescente , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/etiología , Trastorno del Sistema de Conducción Cardíaco/diagnóstico , Trastorno del Sistema de Conducción Cardíaco/etiología , Trastorno del Sistema de Conducción Cardíaco/patología , Estudios de Casos y Controles , Niño , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Mellitus Tipo 1/patología , Diabetes Mellitus Tipo 1/fisiopatología , Angiopatías Diabéticas/diagnóstico , Angiopatías Diabéticas/etiología , Ecocardiografía , Femenino , Sistema de Conducción Cardíaco/diagnóstico por imagen , Sistema de Conducción Cardíaco/patología , Humanos , Masculino , Tamaño de los Órganos/fisiología , Pericardio/diagnóstico por imagen , Pericardio/metabolismo , Factores de RiesgoRESUMEN
OBJECTIVE: In this study, our aim was to determine cardiovascular risk and cardiac function in prediabetic obese children and adolescents. METHODS: The study was conducted on 198 obese children and adolescents 6-18 years of age. Anthropometric measurements, blood pressure measurements, oral glucose tolerance test, lipid profile, and HbA1c levels of patients were assessed. Prediabetes was defined according to American Diabetes Association criteria. Left ventricular mass index (LVMi), carotid intima-media thickness (c-IMT), and tissue Doppler measurements records were used. RESULTS: LVMi was found to be significantly higher in the prediabetes group (p=0.03). There were no statistically significant differences in right ventricular tissue Doppler measurements between the prediabetic and non-prediabetic groups. Left ventricular tissue Doppler measurements were significantly higher in the prediabetes group: LVEEM (left ventricular E/e ratio) (p=0.04); LVEM (left ventricular myocardial velocity cm/s) (p=0.035). LVMi was found to positively correlate with triglyceride level, diastolic blood pressure, waist circumference, body weight standard deviation score and to negatively correlate with high-density lipoprotein cholesterol (p=0.043, r=0.15; p=0.039, r=0.15; p=0.025, r=0.17; p=0.009, r=0.19; p=0.038, r=-0.15, respectively). LVEM was correlated with glucose (p=0.046, r=0.15) and LVEEM was correlated with systolic blood pressure (p=0.035, r=0.15). In linear regression analysis for clinical cardiovascular risk factors, fasting glucose level was the best predictor of LVEM. CONCLUSION: In this study, deterioration of cardiac function in prediabetic obese children and adolescents was shown. We recommend determining cardiovascular risk and cardiac dysfunction at early stages in prediabetic obese children and adolescents.
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Biomarcadores/análisis , Enfermedades Cardiovasculares/diagnóstico , Obesidad/complicaciones , Estado Prediabético/complicaciones , Adolescente , Enfermedades Cardiovasculares/etiología , Grosor Intima-Media Carotídeo , Estudios de Casos y Controles , Niño , Ecocardiografía , Femenino , Estudios de Seguimiento , Prueba de Tolerancia a la Glucosa , Humanos , Masculino , Obesidad/fisiopatología , Estado Prediabético/fisiopatología , Pronóstico , Factores de RiesgoRESUMEN
OBJECTIVE: To evaluate the relationship between periaortic fat thickness (PAFT) and parameters involved in the development of metabolic complications of the cardiovascular system in obese children and to assess the usefulness of echocardiographic measurements of PAFT in correlation with cardiovascular risk factors. METHODS: The study was conducted with 263 obese and 100 healthy children and adolescents. PAFT was measured with echocardiography method which was recently performed in obese children and adolescents. RESULTS: PAFT was significantly higher in the obese group (0.258±0.031 mm) than in the control group (0.137±0.032 mm) (p<0.001). In multivariable regression analysis, body mass index-standard deviation score and total body fat were predictors of PAFT. The area under the receiver operating characteristic curve was 0.989 and was quite significant at p<0.001. PAFT above 0.179 mm was determined as the cut-off value in obese children and adolescents (sensitivity=1, specificity=0.97). CONCLUSION: The measurement of PAFT in obese children and adolescents may be a good method to reveal the presence of early cardiovascular risk.
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Adiposidad , Enfermedades Cardiovasculares/etiología , Resistencia a la Insulina , Enfermedades Metabólicas/etiología , Obesidad/complicaciones , Adolescente , Biomarcadores/análisis , Enfermedades Cardiovasculares/diagnóstico , Estudios de Casos y Controles , Niño , Ecocardiografía , Femenino , Estudios de Seguimiento , Humanos , Masculino , Enfermedades Metabólicas/diagnóstico , Pronóstico , Curva ROC , Factores de RiesgoRESUMEN
To evaluate the anthropometric features of girls with Turner syndrome (TS) at birth and presentation and the effect of karyotype on these parameters. Data were collected from 842 patients with TS from 35 different centers, who were followed-up between 1984 and 2014 and whose diagnosis age ranged from birth to 18 years. Of the 842 patients, 122 girls who received growth hormone, estrogen or oxandrolone were excluded, and 720 girls were included in the study. In this cohort, the frequency of small for gestational age (SGA) birth was 33%. The frequency of SGA birth was 4.2% (2/48) in preterm and 36% (174/483) in term neonates (P < 0.001). The mean birth length was 1.3 cm shorter and mean birth weight was 0.36 kg lower than that of the normal population. The mean age at diagnosis was 10.1 ± 4.4 years. Mean height, weight and body mass index standard deviation scores at presentation were -3.1 ± 1.7, -1.4 ± 1.5, and 0.4 ± 1.7, respectively. Patients with isochromosome Xq were significantly heavier than those with other karyotype groups (P = 0.007). Age at presentation was negatively correlated and mid-parental height was positively correlated with height at presentation. Mid-parental height and age at presentation were the only parameters that were associated with height of children with TS. The frequency of SGA birth was found higher in preterm than term neonates but the mechanism could not be clarified. We found no effect of karyotype on height of girls with TS, whereas weight was greater in 46,X,i(Xq) and 45,X/46,X,i(Xq) karyotype groups.
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Cariotipo Anormal , Antropometría , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Fenotipo , Adulto JovenRESUMEN
OBJECTIVE: There is an increased risk of cardiovascular morbidity in children and adolescents with classical congenital adrenal hyperplasia (CAH), presumably associated with obesity, hypertension, impaired glucose tolerance and dyslipidemia. This study was designed to evaluate the metabolic and cardiovascular profile of a group of children with classical CAH from the perspective of cardiovascular risk. METHODS: Twenty-five CAH patients and 25 healthy controls were included in the study. Metabolic and anthropometric parameters were investigated and compared in these two groups. RESULTS: Subjects in the CAH group were shorter than the controls (p=0.001) and had higher body mass index values (p=0.033). Diastolic blood pressure (DBP) (p=0.027) and carotid intima-media thickness (CIMT) values (p=0.006) were also higher in the patient group. In 24% (n=6) of CAH patients, 24-h ambulatory BP monitoring showed arterial hypertension. CIMT was significantly higher in the hypertensive patients than in those with no hypertension (p=0.013). Twenty percent (n=5) of CAH patients had nocturnal hypertension. CIMT was significantly greater in the nocturnal hypertensive group (p=0.02). Mean systolic BP (SBP) and DBP dipping were significantly different in the CAH patients (p<0.001). CIMT correlated negatively with DBP dipping (r=-0632, p=0.037) in these patients. CONCLUSION: These results provide additional evidence for the presence of subclinical cardiovascular disease in classical CAH patients and its relationship with hypertension.
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Hiperplasia Suprarrenal Congénita/complicaciones , Monitoreo Ambulatorio de la Presión Arterial , Enfermedades Cardiovasculares/diagnóstico , Arterias Carótidas/patología , Grosor Intima-Media Carotídeo , Hipertensión/diagnóstico , Adolescente , Hiperplasia Suprarrenal Congénita/patología , Presión Sanguínea , Índice de Masa Corporal , Enfermedades Cardiovasculares/etiología , Arterias Carótidas/diagnóstico por imagen , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Hipertensión/etiología , Masculino , Obesidad/complicaciones , Pronóstico , Estudios Retrospectivos , Factores de Riesgo , Tasa de SupervivenciaRESUMEN
Children with Turner syndrome (TS) have a broad range of later health problems, including an increased risk of cardiovascular morbidity and mortality. The aim of this study was to evaluate the relationship between periaortic fat thickness (PAFT) and metabolic and cardiovascular profiles in children with TS. Twenty-nine TS and 29 healthy children and adolescents were enrolled in the study. Anthropometric measurements, pubertal staging, and blood pressure measurements were performed. Fasting serum glucose, insulin, and lipid profile were measured. Periaortic fat thickness was measured using an echocardiography method, which has not previously been applied in children with TS. No difference was found between TS and control subject (CS) in age, weight, waist/hip ratio, HDL cholesterol and LDL cholesterol levels. However, in TS subjects, total cholesterol (p = 0.045) was greater than that in controls. It was determined that 13.7 % (N: 4) of TS subjects had dyslipidemia. Mean fasting glucose, fasting insulin, QUICK-I, HOMA, and FGIR index were similar in TS and in CS, whereas 17.2 % (N: 5) of TS subjects had insulin resistance (IR) and 13.7 % (N: 4) had impaired glucose tolerance. Six subjects (20.6 %) were diagnosed as hypertensive. Periaortic fat thickness was significantly higher in the TS group (p < 0.001) (0.1694 ± 0.025 mm in the TS group and 0.1416 ± 0.014 mm in the CS group) In children with TS, PAFT was positively correlated with fasting insulin, body mass index, and diastolic blood pressure. Our results provide additional evidence for the presence of subclinical cardiovascular disease in TS. In addition to existing methods, we recommend the measurement of periaortic fat thickness in children with TS to reveal the presence of early atherosclerosis.
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Aorta/patología , Enfermedades Cardiovasculares/sangre , Enfermedades Cardiovasculares/etiología , Grasa Intraabdominal/patología , Grasa Subcutánea/patología , Síndrome de Turner/complicaciones , Adolescente , Aorta/diagnóstico por imagen , Glucemia/metabolismo , Presión Sanguínea , Índice de Masa Corporal , Enfermedades Cardiovasculares/diagnóstico por imagen , Enfermedades Cardiovasculares/patología , Niño , Preescolar , Colesterol/sangre , Femenino , Humanos , Hipertensión , Insulina/sangre , Resistencia a la Insulina , Lípidos/sangre , Masculino , Factores de Riesgo , UltrasonografíaRESUMEN
AIM: In this study, parameters of metabolic syndrome and dehydroepiandrosterone sulfate (DHEAS) levels in obese children and adolescents were evaluated and the associations between these factors were analyzed. METHOD: One hundred obese and 40 healthy children/adolescents were included in the study. Pubertal stages, anthropometric and blood pressure measurements were recorded. Levels of fasting serum lipids, glucose, insulin, and DHEAS, and liver function tests were determined. Carotid intima-media thickness (CIMT) was measured using two-dimensional echocardiography. Steatorrhoeic hepatosis was evaluated using abdominal ultrasonography in the obese group. RESULTS: Mean body weight, body mass index, waist, hip circumference, waist/hip ratio, homeostatic model assessment of insulin resistance, triglycerides, high-density lipoprotein cholesterol, alanine transferase, DHEAS, and CIMT values were significantly higher in the obese group than in the controls. DHEAS levels were found to be positively correlated with waist circumference, waist/hip ratio, and CIMT. CONCLUSION: Early determination of metabolic and cardiac dysfunction in obese children is important for the prevention of future complications. Since in this study we found a strong association between DHEAS levels and obesity-related metabolic and cardiovascular risk factors, we believe that this may lead to increased interest in further studies of DHEAS in the search for new treatment approaches.
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Sulfato de Deshidroepiandrosterona/sangre , Obesidad/sangre , Adolescente , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Obesidad/fisiopatología , Factores de RiesgoAsunto(s)
Diabetes Mellitus Tipo 1/complicaciones , Cetoacidosis Diabética/complicaciones , Hipopotasemia/complicaciones , Hiponatremia/complicaciones , Intususcepción/etiología , Intususcepción/patología , Niño , Diabetes Mellitus Tipo 1/diagnóstico por imagen , Diabetes Mellitus Tipo 1/patología , Cetoacidosis Diabética/diagnóstico por imagen , Cetoacidosis Diabética/patología , Femenino , Humanos , Hipopotasemia/diagnóstico por imagen , Hipopotasemia/patología , Hiponatremia/diagnóstico por imagen , Hiponatremia/patología , Intususcepción/diagnóstico por imagen , RadiografíaRESUMEN
OBJECTIVE: Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS. METHODS: Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated. RESULTS: The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others. CONCLUSION: This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.
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Estatura/fisiología , Índice de Masa Corporal , Peso Corporal/fisiología , Gráficos de Crecimiento , Síndrome de Turner/fisiopatología , Adolescente , Adulto , Niño , Preescolar , Estudios Transversales , Femenino , Humanos , Cariotipo , Turquía , Síndrome de Turner/genética , Adulto JovenRESUMEN
OBJECTIVE: The aim of this study was to evaluate the periaortic fat thickness (PAFT) using conventional echocardiography in obese children and adolescents with non-alcoholic fatty liver disease (NAFLD). METHODS: Two hundred and ninety-seven obese children and adolescents were included in the study. Anthropometric measurements were made in all subjects, and fasting venous blood samples were taken for determination of glucose, insulin, total cholesterol, low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides, alanine aminotransferase (ALT) and aspartate aminotransferase (AST) levels. Ultrasonography of the liver was used for assessment of NAFLD and the subjects were grouped as NAFLD and non-NAFLD. Echocardiography was performed in all subjects. RESULTS: PAFT was higher in patients with NAFLD compared with the non-NAFLD group. In patients with NAFLD, PAFT was positively correlated with waist circumference and with total cholesterol levels. In multiple regression analysis, waist circumference (ß=0.28, p=<0.001) was found to be the best predictor of PAFT. CONCLUSION: Conventional echocardiography may be used to determine increased PAFT at an early stage in obese children and adolescents with NAFLD for careful monitoring of cardiovascular risk.
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Enfermedades Cardiovasculares/sangre , Enfermedad del Hígado Graso no Alcohólico/sangre , Obesidad Infantil/sangre , Medición de Riesgo/métodos , Tejido Adiposo/diagnóstico por imagen , Adolescente , Alanina Transaminasa/sangre , Aorta/diagnóstico por imagen , Aspartato Aminotransferasas/sangre , Glucemia/metabolismo , Enfermedades Cardiovasculares/diagnóstico , Enfermedades Cardiovasculares/etiología , Niño , Colesterol/sangre , Ecocardiografía , Femenino , Humanos , Insulina/sangre , Lípidos/sangre , Masculino , Análisis Multivariante , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Obesidad Infantil/complicaciones , Análisis de Regresión , Factores de Riesgo , Circunferencia de la CinturaAsunto(s)
Trastornos del Desarrollo Sexual 46, XX/diagnóstico , Hiperplasia Suprarrenal Congénita/diagnóstico , Aromatasa/deficiencia , Ginecomastia/diagnóstico , Infertilidad Masculina/diagnóstico , Errores Innatos del Metabolismo/diagnóstico , Adolescente , Errores Diagnósticos , Femenino , Humanos , Síndrome del Ovario Poliquístico/etiologíaRESUMEN
BACKGROUND: Childhood obesity is a cardiovascular risk factor. OBJECTIVE: Epicardial adipose tissue (EAT) thickness, carotid intima-media thickness (IMT) and cardiac functions of obese children and their correlations were evaluated. SUBJECTS: Five hundred obese children and 150 age- and sex-matched healthy controls. METHODS: Anthropometric, laboratory data and echocardiographic measurements of IMT, EAT and cardiac functions were determined. RESULTS: Increased M-mode echocardiographic measurements, E/e' ratios, Tei index values and decreased E/A and e'/a' ratios (where E and A are early and late mitral/tricuspid diastolic velocities, respectively, and e' and a' are peak early diastolic and peak atrial systolic myocardial velocities, respectively), were determined in the obese group. Also, carotid artery IMT and EAT thickness were significantly higher in obese children. Carotid artery IMT, EAT thickness and left ventricular mass (LVM) were found to be strongly associated with Tei index values. CONCLUSION: Obesity is a major risk factor for cardiovascular diseases. In our study, we showed that obese children have early subclinical systolic and diastolic dysfunctions. Also, these cardiac impairments are correlated with the increase in IMT, EAT thickness and LVM.
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Tejido Adiposo/fisiopatología , Enfermedades Cardiovasculares/etiología , Ventrículos Cardíacos/fisiopatología , Obesidad/fisiopatología , Pericardio/diagnóstico por imagen , Tejido Adiposo/diagnóstico por imagen , Adolescente , Enfermedades Cardiovasculares/diagnóstico por imagen , Enfermedades Cardiovasculares/fisiopatología , Grosor Intima-Media Carotídeo , Niño , Ecocardiografía , Femenino , Ventrículos Cardíacos/diagnóstico por imagen , Humanos , Masculino , Obesidad/complicaciones , Obesidad/diagnóstico por imagenRESUMEN
BACKGROUND: The aim of our study was to evaluate the associations between vitamin D deficiency, the atherosclerosis and metabolic syndrome. METHODS: Two hundred and forty-seven obese children and adolescents, 8-16 years of age (body mass index>95 p) were included in the study. Anthropometric measurements, blood pressure measurements, lipid profile, vitamin D level and carotid intima media thickness (c-IMT) were measured. MS was diagnosed according to IDF criteria. RESULTS: The prevalance of vitamin D deficieny in obese children and adolescent was 46.6%. Low levels of vitamin D were associated with increased carotis intima media thickness and metabolic syndrome (p=0.03, p=0.04, respectively). For clinical cardiovascular risk factors, mutivariable regression analyses showed that low vitamin D level was best predictor of c-IMT. CONCLUSIONS: In this study we showed an association between low vitamin D status and atherosclerosis independent of traditional risk factors in obese children and adolescents.
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Enfermedades Cardiovasculares/etiología , Síndrome Metabólico/sangre , Obesidad Infantil/sangre , Deficiencia de Vitamina D/complicaciones , Adolescente , Aterosclerosis/etiología , Grosor Intima-Media Carotídeo , Niño , Femenino , Humanos , Masculino , Síndrome Metabólico/complicaciones , Obesidad Infantil/complicaciones , Factores de Riesgo , Vitamina D/sangreRESUMEN
Patients with Turner syndrome (TS) have an increased risk of cardiovascular morbidity. 29 TS and 25 healthy control subjects (CS) were included in the study. We investigated body mass index, waist circumference, fasting glucose and insulin, homeostatic model assessment (HOMA) index, serum lipids, oral glucose tolerance test, 24-h ambulatory blood pressure (BP) monitoring, and carotid intima-media thickness (CIMT) and compared them with CS. 28 % (N = 7) of TS had insulin resistance (IR), and 36 % (N = 9) had IGT. Mean systolic BP and diastolic BP (DBP) dip were 7.24 ± 3.97 % and 11.84 ± 6.2 %, respectively. CIMT was greater in TS than in CS (p = 0.00). CIMT was correlated positively with fasting insulin, HOMA index, and insulin-sensitivity check index (r = 0.563, p = 0.015; r = 0.603, p = 0.008; and r = 0.623, p = 0.006, respectively) and negatively with fasting glucose-to-insulin ratio and DBP dipping (r = -0.534, p = 0.022; r = -0.534, p = 0.00, respectively) in the two groups combined. These results provide additional evidence for the presence of subclinical cardiovascular disease and its relation to hypertension in TS. They also indicate a significant relation between DBP dipping and increased arterial stiffness. It is also important to note that our findings show significant relationships between insulin sensitivity and cardiovascular changes and underline the importance of insulin resistance for predicting cardiovascular disease.