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PURPOSE: Height age (HA) and bone age (BA) delay is well known in the patients with short stature. Therefore assessing pituitary hypoplasia based on chronological age (CA) might cause overdiagnosis of pituitary hypoplasia. We aimed to investigate the diagnostic and prognostic value of the PH and PV based on CA, HA, or BA in the patients with GHD. METHODS: Fifty-seven patients with severe and 40 patients with partial GHD and 39 patients with ISS assigned to the study. For defining the most accurate diagnosis of pituitary hypoplasia, PH and PV were evaluated based on CA, BA and HA. The relationship of each method with clinical features was examined. RESULTS: The mean PV was significantly larger in patients with ISS compared to the GH-deficient patients. PV was more correlated with clinical features including height SDS, stimulated GH concentration, IGF-1 and IGFBP-3 SDS, height velocity before and after rGH therapy. We found BA-based PV could discriminate GHD from ISS (Sensitivity: 17%, specificity: 98%, positive predictive value: 94%, negative predictive value: 39%), compared to the other methods based on PH or PV respect to CA and HA. 3% of patients with ISS, 17% of patients with GHD had pituitary hypoplasia based on PV-BA. CONCLUSION: PV based on BA, has the most accurate diagnostic value for defining pituitary hypoplasia. But it should be kept in mind that there might be still misdiagnosed patients by this method. PV is also a significant predictor for the rGH response.
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The pro-inflammatory cytokine interleukin-1 (IL-1) drives the pathogenesis of several inflammatory diseases. Recent studies have revealed that 2-indolinones can modulate cytokine responses. Therefore, we screened several 2-indolinone derivatives in preliminary studies to develop agents with anti-IL-1 activity. First, the putative efficacies and binding interactions of 2-indolinones were evaluated by docking studies. Second, previously synthesized 5-fluoro/(trifluoromethoxy)-1H-indole-2,3-dione 3-(4-phenylthiosemicarbazones) (compounds 47-69) which had the highest inhibitory effect in the screening were evaluated for inhibitory effects on the IL-1 receptor (IL-1R). Compounds 52 (IC50 = 0.09 µM) and 65 (IC50 = 0.07 µM) were selected as lead compounds for the subsequent synthesis of new derivatives. The novel 5-fluoro/(trifluoromethoxy)-1H-indole-2,3-dione 3-(4-phenylthiosemicarbazones) (compounds 70-116) were designed, synthesized, and in vitro studies were completed. The compounds 76, 78, 81, 91, 100, 105, and 107 tested showed nontoxic inhibitory effects on IL-1R-dependent responses in the range of 0.01-0.06 µM and stronger than the lead compounds 52 and 65. In vitro and in silico findings showed that compounds 78 (IC50 = 0.01 µM) and 81 (IC50 = 0.02 µM) had the strongest IL-1R inhibitory effects and the most favorable drug-like properties. Molecular modeling studies of the compounds 78 and 81 were carried out to determine the possible binding interactions at the active site of the IL-1R.
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Antineoplásicos , Interleucina-1 , Relação Estrutura-Atividade , Oxindóis , Modelos Moleculares , Indóis/química , Simulação de Acoplamento Molecular , Estrutura Molecular , Antineoplásicos/farmacologia , Ensaios de Seleção de Medicamentos AntitumoraisRESUMO
Serum inhibin B (INHB) concentrations are associated with testicular volumes (TV) in all periods of childhood. The aim of the study was to investigate the relationship between TV measured by ultrasonography (US) and cord blood inhibin B and total testosterone (TT) concentrations, stratified by mode of delivery. In total 90 male infants were included. Testes of healthy, term newborns were evaluated by US on the third day after delivery. TV were calculated using two formulae: The ellipsoid formula [length (mm) × width (mm2) × π/6] and Lambert formula [length (mm) x width (mm) x height (mm) x 0.71]. Cord blood was taken for the determination of total testosterone (TT) and INHB. TT and INHB concentrations were evaluated according to TV percentiles (<10th, 10th-90th, >90th). There was a strong positive correlation between mean TV calculated with both formulae by percentile group (r = 0.777, r = 0.804, r = 0.846; p < 0.001). Cord blood INHB, but not TT were significantly lower in newborns with TV < 10th percentile compared to those with TV between 10 and 90th percentile and > 90th percentile (p < 0.05). There was a positive correlation between left and right TV calculated by either formula, and cord blood INHB (r = 0.212, 0.313, 0.320, 0.246,p < 0.05), not TT. There was no significant difference between hormones and TV when grouped by mode of delivery (p > 0.05). The Lambert and ellipsoid formulas are equally reliable in calculating neonatal testicular by ultrasound. INHB concentration is high in cord blood and positively correlated with neonatal TV. Cord blood INHB concentration may be an indicator for early detection of testicular structure and function disorders in neonates.
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Sangue Fetal , Testículo , Humanos , Masculino , Recém-Nascido , Testículo/diagnóstico por imagem , Inibinas , TestosteronaRESUMO
PURPOSE: To evaluate cardiac structure, exercise capacity and electrocardiography (ECG) parameters of children with complete and partial growth hormone (GH) deficiency (GHD) and the effect of 12 months GH treatment on these. METHODS: M-mode echocardiography, ECG and exercise test expressed as metabolic equivalent (MET) were performed in children with GHD, aged 9-14 years, divided into those with a peak GH response < 7 µg/L (complete GHD; n = 30) and 7-10 µg/L (partial GHD; n = 17) after two GH stimulation tests, at baseline and 12 months after GH initiation. Forty-eight healthy peers underwent the same tests once. RESULTS: Left ventricular mass (LVM) was significantly lower before treatment in both groups with GHD compared to healthy peers (p = 0.015 and p = 0.032) but LVM in the GHD groups was similar to controls after 12 months of treatment. The increase in LVM in the complete GHD group was significant (p = 0.044). LVM index was significantly reduced with treatment in children with partial GHD (p = 0.035). Max METs, VO2max and exercise duration were significantly increased in children with complete GHD after treatment (p = 0.022, p = 0.015 and p = 0.002, respectively). Significant changes in P wave and QTc dispersion on ECG between groups were within physiological limits. CONCLUSION: This study showed that children with both partial and complete GHD had smaller cardiac structures and less exercise capacity compared to their healthy peers prior to GH treatment but this improved with 12 months of treatment. The cardiac trophic effect of GH, as well as the effect of increasing exercise capacity, is greater in those with complete GHD than in those with partial GHD.
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Hormônio do Crescimento Humano , Hipopituitarismo , Criança , Humanos , Eletrocardiografia , Tolerância ao Exercício , Hormônio do Crescimento , Terapia de Reposição Hormonal , Hormônio do Crescimento Humano/uso terapêutico , Fator de Crescimento Insulin-Like I/metabolismo , AdolescenteRESUMO
PURPOSE: To determine the variation in anti-Mullerian hormone (AMH) and androstenedione (A4) concentrations in adolescent girls, with or without menstrual cycle disorder in relation to phenotypic features of. PCOS. METHODS: Adolescent girls (n = 129), age range 14-19 years, were recruited in the cohort study. All participants were in the 4th or 5th year after menarche. Sixty-eight had menstrual irregularities, usually oligomenorrhea (OM), and 61 had regular menstruation (RM). AMH and A4 concentrations were measured. Hirsutism was recorded. Polycystic ovarian morphology (PCOM) was evaluated by transabdominal pelvic ultrasonography. Polycystic ovary syndrome (PCOS) features were defined according to Rotterdam consensus criteria. RESULTS: AMH and A4 were significantly higher in adolescent girls with OM than in girls with RM (p < 0.05). A4 and body mass index (BMI) of adolescents with OM was significantly higher in those with hirsutism than those without hirsutism (p = 0.01 and 0.008, respectively). There was a positive correlation between A4 and BMI (r: 0.327, p < 0.01). Logistic regression showed that the frequency of OM in the presence of PCOM was 10.8 times (95% CI 2.04-12.09) compared to those without PCOM. The highest AMH concentrations were found in girls with OM, hirsutism, and PCOM (p < 0.05). CONCLUSIONS: AMH and A4 are elevated in adolescents with oligomenorrhoea. High A4 is more prominent in the presence of hirsutism and is associated with increased BMI. PCOM, increases the likelihood of oligomenorrhea by about 10 times. AMH increase as the combination of clinical features of PCOS increases in adolescents with menstrual irregularity.
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Androstenodiona , Hormônio Antimülleriano , Síndrome do Ovário Policístico , Adolescente , Androgênios , Androstenodiona/sangue , Hormônio Antimülleriano/sangue , Estudos de Coortes , Feminino , Hirsutismo/etiologia , Humanos , Distúrbios Menstruais/etiologia , Oligomenorreia/etiologia , Síndrome do Ovário Policístico/complicações , Adulto JovemRESUMO
OBJECTIVE: The Impact of Weight on Quality of Life-Kids is a self-reported weight-related quality of life measure that has been validated for children and adolescents aged between 11 and 19. Impact of Weight on Quality of Life-Kids does not have a Turkish version. The aim of this study was to explore the reliability and validity of the Impact of Weight on Quality of Life-Kids in Turkish. MATERIALS AND METHODS: The Impact of Weight on Quality of Life-Kids was translated into Turkish using Mapi Research Institute's suggested international translation technique. The psychometric evaluation included test-retest reliability, internal consistency, discriminant validity, concurrent validity, exploratory factor analysis, and confirmatory factor analysis. RESULTS: For the total score, the internal consistency of the scale (Cronbach's alpha coefficient) was 0.93. The item-total score correlation coefficients ranged from 0.178 to 0.785. The testretest coefficients were found to be 0.94 for the total score and the subscales ranged from 0.66 to 0.89 after 2 weeks. Discriminant validity analysis demonstrated that the instrument differentiated well between the obese and non-obese samples. Five variables were discovered via factor analysis that explained 66.9% of the total variation. The chi-square/degree of freedom ratio value was 3.535, the comparative fit index value was 0.834, and the value of root mean square error of approximation was 0.10, as determined by confirmatory factor analysis. CONCLUSION: Our results demonstrated the adequate reliability and validity of the Impact of Weight on Quality of Life-Kids, suggesting that this scale is a useful tool for screening Turkish children and adolescents for weight-related quality of life.
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INTRODUCTION: Children with Growth Hormone deficiency (GHD) are prone to heart dysfunction and, if left untreated, will result in marked cardiac dysfunction in adulthood. The aim was to evaluate the effect of GHD and growth hormone (GH) therapy on cardiac structure in children and adolescents, and to investigate the role of insulin like growth factor-1 (IGF-1) in this. METHODS: M-mode, pulse-wave Doppler echocardiography and tissue Doppler imaging (TDI) were performed in 49 children with GHD who were divided into those with a peak GH response < 7 µg/L and 7-10 µg/L after two GH stimulation tests, aged 8-16 years at baseline and at six and 12 months after GH initiation, and 49 healthy peers. IGF-1 concentration was measured. RESULTS: Although the left ventricular end diastolic and systolic diameters in both GH deficient groups were significantly lower than controls (p < 0.01), both diameters increased significantly with one year of treatment and achieved normal values (p > 0.05). Using TDI in both two patients group revealed increased E/A, prolonged isovolumic relaxation time, shortened ejection time, and a significant increase in myocardial performance index compared to controls (p < 0.001). Significant improvement was observed in these parameters from the sixth month of GH treatment (p < 0.001), this improvement does not match parameters measured in healthy peers, even after one year of treatment in both patients group. (p < 0.001). No correlation was found between IGF-1 concentration and any echocardiographic parameter. CONCLUSION: Echocardiographic parameters were similar in children with a GH peak < 7 µg/L and 7-10 µg/L. In TDI, both systolic and diastolic function was impaired in GHD children compared to controls. These parameters improved after one year of GH therapy but did not recover to healthy control levels.
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Doenças Cardiovasculares/patologia , Nanismo Hipofisário/tratamento farmacológico , Terapia de Reposição Hormonal/efeitos adversos , Hormônio do Crescimento Humano/efeitos adversos , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/metabolismo , Estudos de Casos e Controles , Criança , Nanismo Hipofisário/patologia , Ecocardiografia , Feminino , Seguimentos , Hormônio do Crescimento Humano/deficiência , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Masculino , Prognóstico , Estudos Prospectivos , Fatores de RiscoRESUMO
Objective: Neutrophil gelatinase-associated lipocalin (NGAL) is one of the new biomarkers for detecting acute renal injury. There are studies showing the relationship between NGAL and renal injury in obese children. The aim of this study was to investigate whether urinary levels of NGAL, kidney injury molecule-1, and serum cystatin C are increased in insulin resistance (IR) patients before the development of diabetes. Methods: Cross-sectional, case-controlled study that included non-diabetic obese children and adolescent patients with IR and a non-diabetic obese control group with no IR, who attended a tertiary center pediatric endocrinology outpatient clinic between 2016-2018. Those with diabetes mellitus and/or known renal disease were excluded. NGAL and creatinine (Cr) levels were evaluated in the morning spot urine from all participants. Serum renal function was evaluated. Results: Thirty-six control and 63 IR patients were included in the study, of whom 68 (68.7%) were girls. The mean age of all participants was 13.12±2.64 years and no statistically significant difference was found between the two groups in terms of age or gender distribution. Median (range) spot urinary NGAL (u-NGAL) values in the IR group were significantly higher at 26.35 (7.01-108.7) ng/mL than in the control group at 19.5 (3.45-88.14) ng/mL (p=0.018). NGAL/Cr ratio was also significantly higher in the IR group compared to the control group (p=0.018). Conclusion: Obese pediatric patients with IR were shown to have elevated levels of u-NGAL, a marker of renal injury. u-NGAL examination may show early renal injury before development of diabetes.
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Biomarcadores/urina , Receptor Celular 1 do Vírus da Hepatite A/metabolismo , Resistência à Insulina/fisiologia , Nefropatias/urina , Lipocalina-2/urina , Obesidade Infantil/urina , Adolescente , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Humanos , MasculinoRESUMO
Aims A decrease in health-related quality of life (HRQOL) measures among obese (OB) and overweight (OW) children has been shown in several studies, but knowledge about the variables affecting HRQOL impairments is missing. The aim of this study was to evaluate the relationship between HRQOL and sociodemographic characteristics, anthropometric measurements, metabolic parameters, mental symptoms and parental attitudes in a sample of OB/OW children. Methods Eighty-six OB/OW children, aged between 9 and 17 years, participated in the study. We performed sociodemographic questioning, anthropometric examinations and laboratory evaluations of the participants. HRQOL was assessed using the Pediatric Quality-of-Life Inventory (PedsQL), and levels of anxiety and depressive symptoms were measured using the Screen for Child Anxiety-Related Disorders (SCARED) questionnaire and the Children's Depression Inventory (CDI), respectively. Parental attitudes were assessed with the Parental Attitude Research Instrument (PARI) questionnaire. Results A statistically significant relationship was found between total scores of CDI and SCARED answered by children and the total and subscale scores of PedsQL. Scores of total quality of life subscale, physical functionality and emotional functionality subscales were significantly lower in children with a family history of mental illness. No relationship was found between PedsQL subscales, anthropometric and metabolic parameters. Conclusions Emotional problems and parental psychological distress are important factors in models of HRQOL in the OB/OW pediatric population.
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Ansiedade/psicologia , Depressão/psicologia , Saúde Mental , Sobrepeso/psicologia , Pais/psicologia , Obesidade Infantil/psicologia , Qualidade de Vida , Adolescente , Criança , Família , Feminino , Seguimentos , Nível de Saúde , Humanos , Masculino , Prognóstico , Inquéritos e QuestionáriosRESUMO
Objective: The aim of this study was to assess the association between serum uric acid concentration (SUAC) and the parameters of the metabolic syndrome (MetS) and insulin resistance (IR). The secondary aim was to evaluate whether hyperuricemia is associated with renal injury and cardiovascular risk in obese (OB) and overweight (OW) children. Methods: The subjects of this study consisted of OB/OW children and adolescents (ages: 8-18 years). Sex and age specific serum uric acid (SUA) olarak degistirilecek percentiles were used and a SUA >75th percentile was accepted as hyperuricemia. Anthropometric data, blood pressure (BP) measurements and biochemical parameters, including fasting blood glucose, insulin, total cholesterol, high-density lipoprotein cholesterol (HDL-c), low-density lipoprotein cholesterol, triglycerides (TG), aspartate aminotransferase, alanine aminotransferase, homeostatic model assessments of IR (HOMA-IR) and SUAC were recorded. Oral glucose tolerance tests (OGTT) were performed in all patients. MetS was defined according to the International Diabetes Federation criteria. Total cholesterol/HDL-c ratio >4 and TG/HDL-c ratio >2.2 were used as the atherogenic index (AI) indicating cardiovascular risk. Urinary albumin excretion in a 24-hour and also in a first-morning urine sample were measured. Renal injury was assessed by microalbuminuria according to the National Kidney Foundation criteria. Results: There were 128 participants; 52 (40%) had elevated (SUA >75th percentile) and 76 had (60%) normal SUAC. The mean±SD age was 13.1±2.6 years and 87 (67.4%) were female. The mean±SD weight was 73±18.97 kg and mean±SD height was 155.4±12.11 cm. There was no statistical difference between the groups with and without hyperuricemia in terms of age, sex, puberty stage and degree of obesity. Increased SUAC were significantly associated with higher waist-to-hip ratio (WHR), fasting insulin levels and insulin at 30 and 60 minutes during OGTT, HOMA-IR, lower HDL-c and presence of hypertriglyceridemia as well as with decreased HDL-c, increased AI, presence of IR and MetS. BP and microalbuminuria were not associated with SUAC. SUAC showed significant positive correlations with waist circumference, WHR, post-challenge glucose level at 60 minutes, with fasting insulin, post-challenge insulin levels at 30, 60, 90 and 120 minutes and also with HOMA-IR, total cholesterol/HDL-c ratio, TG/HDL-c ratio and a number of other criteria related to MetS. Also, an inverse correlation with HDL-c was noted. Conclusion: In OB/OW children frequency of MetS, IR and dislipidemia increases with increased SUAC, a finding independent of age, puberty, gender and body mass index. Patients meeting all of the MetS criteria had the highest SUAC. These results demonstrate that the association between UA and metabolic and cardiovascular risk factors can be detected early in childhood. Thus, we recommend monitoring SUAC in OB children and we believe that prevention of SUAC elevation in early life has a potential protective effect on metabolic impairment and subsequent comorbidities.
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Doenças Cardiovasculares/sangue , Hiperuricemia/sangue , Nefropatias/sangue , Síndrome Metabólica/sangue , Obesidade/complicações , Sobrepeso/complicações , Ácido Úrico/sangue , Adolescente , Biomarcadores/sangue , Índice de Massa Corporal , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/etiologia , Criança , Feminino , Seguimentos , Humanos , Hiperuricemia/diagnóstico , Hiperuricemia/etiologia , Nefropatias/diagnóstico , Nefropatias/etiologia , Masculino , Síndrome Metabólica/diagnóstico , Síndrome Metabólica/etiologia , Prognóstico , Estudos RetrospectivosRESUMO
Peak bone mass is reached in late adolescence. Low peak bone mass is a well recognized risk factor for osteoporosis later in life. Our data do not support a link between vitamin D status, bone mineral density (BMD), and socioeconomic status (SES). However, there was a marked inadequacy of daily calcium intake and a high presence of osteopenia in females with low SES. PURPOSE: Our aims were to (1) examine the effects of different SES on BMD, vitamin D status, and daily calcium intake and (2) investigate any association between vitamin D status and BMD in female university students. SUBJECTS AND METHODS: A questionnaire was used to obtain information about SES, daily calcium intake, and physical activity in 138 healthy, female university students (age range 18-22 years). Subjects were stratified into lower, middle, and higher SES according to the educational and occupational levels of their parents. All serum samples were collected in spring for 25-hydroxyvitamin D concentration (25OHD). Lumbar spine and total body BMD was obtained by dual-energy X-ray absorptiometry (DXA) scan (Lunar DPX series). Osteopenia was defined as a BMD between - 1.0 and - 2.5 standard deviations (SDs) below the mean for healthy young adults on lumbar spine DXA. RESULTS: No significant difference was found between the three socioeconomic groups in terms of serum 25OHD concentration, BMD levels, or BMD Z scores (p > 0.05). Both the daily intake of calcium was significantly lower (p = 0.02), and the frequency of osteopenia was significantly higher in girls with low SES (p = 0.02). There was no correlation between serum 25OHD concentration and calcium intake and BMD values and BMD Z scores (p > 0.05). The most important factor affecting BMD was weight (ß = 0.38, p < 0.001). CONCLUSIONS: Low SES may be associated with sub-optimal bone health and predispose to osteopenia in later life, even in female university students.
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Densidade Óssea , Cálcio da Dieta/análise , Osteoporose/etiologia , Fatores Socioeconômicos , Vitamina D/análogos & derivados , Absorciometria de Fóton , Adolescente , Exercício Físico , Feminino , Voluntários Saudáveis , Humanos , Vértebras Lombares/diagnóstico por imagem , Estado Nutricional , Fatores de Risco , Estudantes/estatística & dados numéricos , Turquia , Universidades , Vitamina D/sangue , Adulto JovemRESUMO
Objective: The current study aimed to investigate psychiatric consequences of obesity and the relationship between componenets of the metabolic syndrome and psychiatric disorders in children. Our second aim was to elucidate which of the anthropometric parameters or metabolic components were most strongly associated with psychiatric disorders. Methods: The study included 88 obese and overweight children with a body mass index (BMI) greater than 85th percentile. The patients were evaluated for psychiatric disorders by a single child and adolescent psychiatrist. Forty patients diagnosed with psychiatric disorders and 48 patients with normal psychiatric evaluation were compared in terms of anthropometric and metabolic parameters. BMI, BMI-standard deviation score and BMI percentile, waist circumference, waist to hip ratio, blood pressure and pubertal stage of all patients were recorded. Fasting serum glucose, insulin, lipid profile and homeostatic model assessments of insulin resistance (HOMA-IR) were measured to evaluate the metabolic parameters. Serum and 24 hour urine cortisol levels were measured. Results: HOMA-IR in the group with psychiatric disorders was found to be significantly higher than in the group without psychiatric disorders (6.59±3.36 vs 5.21±2.67; p=0.035). Other anthropometric measurements and metabolic parameters were not significantly different between the two groups. Conclusion: An understanding of the relationships between obesity related medical comorbidities and psychiatric pathologies is important to encourage patients and their families to make successful healthy lifestyle changes and for weight management in terms of appropriate treatment.
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Resistência à Insulina/fisiologia , Transtornos Mentais/fisiopatologia , Síndrome Metabólica/fisiopatologia , Obesidade/fisiopatologia , Adolescente , Glicemia/análise , Índice de Massa Corporal , Criança , Feminino , Humanos , Insulina/sangue , Lipídeos/sangue , Masculino , Transtornos Mentais/sangue , Transtornos Mentais/psicologia , Síndrome Metabólica/sangue , Síndrome Metabólica/psicologia , Obesidade/sangue , Obesidade/psicologia , Circunferência da Cintura , Relação Cintura-QuadrilRESUMO
AIMS: We aimed to evaluate asymmetric dimethylarginine levels in young patients with Type 1 diabetes mellitus according to diabetes duration and to examine the relationship between these levels and measures of atherosclerosis and myocardial function. MATERIALS AND METHODS: In total, 83 patients (8.5-22 years) with Type 1 diabetes mellitus were stratified by diabetes duration: 12-60 months (Group 1, n = 27), >60-120 months (Group 2, n = 29) and >120 months (Group 3, n = 27). Asymmetric dimethylarginine levels were assessed. Carotid intima-media thickness was measured. Myocardial function was assessed by M-mode, conventional Doppler and tissue Doppler echocardiography. RESULTS: Asymmetric dimethylarginine level was significantly higher in Group 1, while carotid intima-media thickness was significantly greater in Group 3 ( p < 0.05). Tissue Doppler echocardiography showed the ratio of peak early to peak late diastolic myocardial annular velocity decreased significantly in Groups 2 and 3 with a negative correlation with duration (r: -0.310, p = 0.004) and HBA1c levels (r = -0.391, p < 0.001). Myocardial performance index in all groups and isovolumic relaxation time in Group 3 increased significantly. Asymmetric dimethylarginine levels were negatively correlated with carotid intima-media thickness and isovolumic relaxation time ( p < 0.05). CONCLUSION: In contrast to adult diabetics, asymmetric dimethylarginine concentration decreases as diabetes duration increases in young Type 1 diabetic patients and is associated with worsening measures of cardiovascular risk and poorer diastolic function.
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Arginina/análogos & derivados , Aterosclerose/sangue , Diabetes Mellitus Tipo 1/diagnóstico , Adolescente , Adulto , Arginina/sangue , Aterosclerose/complicações , Aterosclerose/diagnóstico , Espessura Intima-Media Carotídea , Criança , Diabetes Mellitus Tipo 1/complicações , Ecocardiografia/métodos , Ecocardiografia Doppler/métodos , Feminino , Humanos , Masculino , Miocárdio/metabolismo , Função Ventricular Esquerda , Adulto JovemRESUMO
Maturity onset diabetes is a genetic form of diabetes mellitus characterized by an early age at onset and several etiologic genes for this form of diabetes have been identified in many patients. Maturity onset diabetes type 2 [MODY2 (#125851)] caused by mutations in the glucokinase gene (GCK). Although its prevalence is not clear, it is estimated that 1%-2% of patients with diabetes have the monogenic form. The aim of this study was to evaluate the molecular spectrum of GCK gene mutations in 177 Turkish MODY type 2 patients. Mutations in the GCK gene were identified in 79 out of 177. All mutant alleles were identified, including 45 different GCK mutations, 20 of which were novel.
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Diabetes Mellitus Tipo 2/genética , Glucoquinase/genética , Mutação/genética , Adolescente , Adulto , Alelos , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Prevalência , Turquia/epidemiologia , Adulto JovemRESUMO
BACKGROUND: Pediatric adrenocortical tumors are rare but significant causes of virilization and peripheral precocious puberty (PPP). CASE: A 4-year-old girl presented with development of breast, pubic hair, and facial acne. Her bone age was advanced, and her gonadotropin level did not elevate in a gonadotropin-releasing hormone (GnRH) test. High levels of dehydroepiandrosterone sulfate, estradiol, and testosterone, and detection of a tumor in the left adrenal gland of the abdomen using computed tomography led to a diagnosis of PPP due to adrenal tumor. Adrenal adenoma was diagnosed with pathology after the tumor was removed. Ultrasonography detected multicystic ovaries before surgery. Although the androgen levels decreased, high estrogen levels persisted after complete tumor resection. Approximately 1 year after the surgery, the patient's breast development persisted, bone age progressed rapidly, and gonadotropin levels increased in a GnRH test. Central precocious puberty was diagnosed, and treatment with GnRH analogues was started. SUMMARY AND CONCLUSION: Adrenal adenoma might present with isosexual PPP as well as virilization in girls. The ovaries should be carefully assessed in these patients. Prolonged exposure to androgen and estrogen might cause ovarian multicysts leading to persistence of high estrogen levels and initiation of central precocious puberty.
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Neoplasias do Córtex Suprarrenal/complicações , Glândulas Suprarrenais/patologia , Adenoma Adrenocortical/complicações , Puberdade Precoce/etiologia , Neoplasias do Córtex Suprarrenal/cirurgia , Glândulas Suprarrenais/cirurgia , Adenoma Adrenocortical/cirurgia , Pré-Escolar , Feminino , Hormônio Liberador de Gonadotropina , Humanos , Ovário/patologia , Puberdade Precoce/diagnóstico , Testosterona , Tomografia Computadorizada por Raios XRESUMO
Complex clinical presentation with diverse timing of particular symptoms may cause diagnostic difficulties, especially in children and adolescents. This paper presents diagnostic difficulties and pitfalls in 3 children with acquired primary hypothyroidism due to Hashimoto's thyroiditis (HT) presenting with unusual manifestations. We described 3 children with acquired primary hypothyroidism due to HT. One of our patients had musculoskeletal pain and was diagnosed and treated as having connective tissue disease. Another patient presented with chest pain, dyspnea, and swelling in the abdomen. She had a massive pericardial effusion (PE). Two patients had severe growth failure. A third patient with Down syndrome had a small PE. Her complaint was dyspnea during sleep. All patients improved with thyroxin therapy. Patients with hypothyroidism due to HT who have complicated clinical manifestations were misdiagnosed and mismanaged at childhood and adolescence. Growth failure is an important sign in children and adolescents. In the presence of complicated manifestations in children and adolescents, thyroid dysfunction must be considered in differential diagnosis.
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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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Cariótipo Anormal , Antropometria , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Recém-Nascido , Fenótipo , Adulto JovemRESUMO
Schwannomas usually occur in adults being between the second and fifth decades, and such neoplasms are extremely rare in a pediatric population. In addition, they are not normally found in the retroperitoneal region. Here, we present a pediatric case of a retroperitoneal schwannoma in an adrenal location where the tumor was not able to be preoperatively differentiated from other benign or malign adrenal gland tumors. In our opinion, this tumor can be included in the differential diagnosis of a nonfunctioning retroperitoneal adrenal mass in children.
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Simple predictors are needed for the screening of nonalcoholic fatty liver disease (NAFLD) in obese children. We aimed to assess the role of anthropometric parameters in the prediction of NAFLD. Three hundred and thirty two obese children (152 male, 180 female) aged 4.6-17.0 years were included in this study. Weight, height, waist (WC), and hip circumference were measured. Body mass index (BMI), waist-hip-ratio (WHR), and waist-height-ratio (WHtR) were calculated. Obesity was defined as BMI for age and sex ≥ 95th percentile. NAFLD was diagnosed using ultrasonography (US). NAFLD was present in 60.8% of obese children. Fatty liver prevalence differed significantly by gender and puberty (55.0% of girls vs 67.7% of boys, and 28.7% in prepubertal vs 71.3% in pubertal children; p < 0.05). Significantly higher BMI, BMI standard deviation score (SDS), WC, and WHtR were found in obese children with NAFLD compared to obese children without NAFLD (p < 0.05). Only WHtR was found to be an independent predictor for NAFLD in a logistic regression analysis (p < 0.001, B:1.096, 95% CI 1.047-1.148). Fatty liver is common among obese children, particularly in obese boys. WHtR is a simple and easy index for predicting of NAFLD in obese children and can be used for mass screening in public health.
Assuntos
Antropometria/métodos , Programas de Rastreamento/métodos , Hepatopatia Gordurosa não Alcoólica/diagnóstico , Obesidade Infantil/complicações , Razão Cintura-Estatura , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Hepatopatia Gordurosa não Alcoólica/complicações , Hepatopatia Gordurosa não Alcoólica/epidemiologia , PrevalênciaRESUMO
[This corrects the article on p. 164 in vol. 21, PMID: 27777910.].