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Objective: To determine inequalities in access to diabetes technologies and the effect of socioeconomic factors on families with children with type 1 diabetes. Methods: In this multicenter cross-sectional study, parents of children with type 1 diabetes completed a questionnaire about household sociodemographic characteristics, latest HbA1c values, continuous glucose monitoring (CGM) and insulin pump use of children, the education and working status of parents. These characteristics were compared between technology use (only-CGM, only-pump, CGM+pump, no technology use). Results: Among 882 families, only-CGM users, only-pump users, and CGM+pump users compared with no technology users, adjusting for age, sex, region, education levels, number of working parents, and household income. Children living in the least developed region had lower odds of having only-CGM (OR=0.20, 95%CI 0.12-0.34) and having CGM+pump (OR=0.07, 95%CI 0.03-0.22) compared with those living in the most developed region. Children with parents who had not finished high school had lower odds of having only-CGM (Mothers: OR=0.36, 95%CI 0.19-0.66; fathers: OR=0.32, 95%CI 0.18-0.60) or both CGM+pump (OR=0.27, 95%CI 0.11-0.64; fathers: OR=0.34, 95%CI 0.15-0.79) rather than no-technology compared to children whose parents has a university degree. Every $840 increase in the household income increased the odds by 5% for having only-CGM (OR=1.05, 95%CI 1.02-1.09) and CGM+pump (OR=1.05, 95%CI 1.01-1.08). Conclusion: Socioeconomic factors such as education, regions, and income were associated with inequality in access to technologies. The inequalities are more prominent in access to CGM while CGM had a bigger contribution to glycemic control.
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Objective: Maturity-onset diabetes of the young (MODY) occurs due to mutations in genes involved in pancreatic beta cell function and insulin secretion, has heterogeneous clinical and laboratory features, and account for 1-5% of all diabetes cases. The prevalence and distribution of MODY subtypes vary between countries. The aim of this study was to evaluate the clinical and laboratory characteristics, mutation distribution, and phenotype-genotype relationship in a large case series of pediatric Turkish patients genetically diagnosed with MODY. Methods: MODY cases from 14 different pediatric endocrinology departments were included. Diagnosis, treatment, follow-up data, and results of genetic analysis were evaluated. Results: A total of 224 patients were included, of whom 101 (45%) were female, and the mean age at diagnosis was 9.4±4.1 years. Gene variant distribution was: 146 (65%) GCK; 43 (19%) HNF1A; 8 (3.6%) HNF4A, 8 (3.6%) KLF11 and 7 (3.1%) HNF1B. The remaining 12 variants were: PDX (n=1), NEUROD1 (n=3), CEL (n=1), INS (n=3), ABCC8 (n=3) and KJNC11 (n=1). Of the cases, 197 (87.9%) were diagnosed with incidental hyperglycemia, 16 with ketosis (7%) and 7 (3%) with diabetic ketoacidosis (DKA), while 30% presented with classical symptoms of diabetes. Two-hundred (89%) had a family history of diabetes. Anti-GAD antibody was detected in 13 cases, anti-islet antibody in eight and anti-insulin antibody in four. Obesity was present in 16. Distribution of therapy was: 158 (71%) diet only; 23 (11%) intensive insulin treatment; 17 (7.6%) sulfonylureas; 10 (4.5%) metformin; and 6 (2.7%) insulin and oral antidiabetic treatment. Conclusion: This was the largest genetically diagnosed series from Turkey. The most common gene variants were GCK and HNF1A with much lower proportions for other MODY types. Hyperglycemia was the most common presenting symptom while 11% of patients had diabetes-associated autoantibodies and 7% were obese. The majority of patients received dietary management only.
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OBJECTIVES: This study aimed to analyze the cardiac effects of hyperandrogenism in premature adrenarche (PA) and evaluate the risk of arrhythmia development. METHODS: Fifty patients with PA and 50 healthy children from a pediatric endocrinology outpatient clinic were included in the study. The patients underwent echocardiography and electrocardiographic evaluations. Conventional echocardiography, tissue Doppler echocardiography, repolarization time, and repolarization dispersion time were evaluated. RESULTS: The median age in the PA and control groups was 7.91 years (5.83-9.25), 8.08 years (5.75-9.33), respectively. Thirty percent of patients in the PA group were male. While mitral early diastolic velocity deceleration time (DT), isovolumetric relaxation time (IRT), and E/e' ratio were significantly higher in the PA group than in the control group, mitral lateral annulus tissue Doppler early diastolic velocity was significantly lower (p=0.0001, 0.0001, 0.003, 0.0001). While P wave dispersion (PWD), Tpe, and QT-dispersion (QT-d) values were significantly higher in the PA group than in the control group, the P minimum value was significantly lower in the PA group (p=0.0001, 0.02, 0.004, and 0.0001, respectively). CONCLUSIONS: Early subclinical diastolic dysfunction was observed in the PA group. There was an increased risk of atrial arrhythmia with PWD and an increased risk of ventricular arrhythmia with increased Tpe and QT-d. There was a correlation between testosterone levels and diastolic function parameters. The increased risk of atrial arrhythmia is closely related to diastolic function.
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Adrenarca , Disfunção Ventricular Esquerda , Criança , Humanos , Masculino , Feminino , Ecocardiografia Doppler/efeitos adversos , Ecocardiografia , Diástole/fisiologia , Arritmias Cardíacas/etiologia , Disfunção Ventricular Esquerda/etiologiaRESUMO
Objective: Noonan syndrome (NS) is characterized by dysmorphic facial features, short stature, congenital heart defects, and varying levels of developmental delays. It is a genetic, multisystem disorder with autosomal dominant inheritance and is the most common of the RASopathies. In approximately 50% of patients, NS is caused by variants in the Protein Tyrosine Phosphatase Non-Receptor Type 11 (PTPN11) gene. The aim of this study was to evaluate two patients with a previously reported PTPN11 homozygous variant for the first time and seven other kindred members carrying the same heterozygous variant in terms of clinical, biochemical, genetic, and response to treatment. Methods: Nine patients diagnosed with NS due to the same variants in the PTPN11 gene were included in the study. Results: The median (range) age at diagnosis was 11.5 (6.8-13.9) years and the mean follow-up duration was 4.7 (1-7.6) years. In eight patients (88.9%), short stature was present. The height standard deviation score of the patients on admission was -3.24±1.15. In six of the patients, growth hormone treatment was initiated. Cardiovascular or bleeding disorders were not detected in any of the patients. Three (33.3%) had hearing loss, two (22.2%) had ocular findings and one (11.1%) had a horseshoe kidney. The mean psychomotor development performance score was 84.03±17.09 and the verbal score was 82.88±9.42. Genetic analysis revealed a variant in the PTPN11 gene [c.772G>A; (p.Glu258Lys)] that had been previously described and was detected in all patients. Two patients were homozygous for this variant and short stature was more severe in these two. Conclusion: A previously described in PTPN11 affected nine members of the same kindred, two with homozygous inheritance and the remainder being heterozygous. To the best of our knowledge, these are the first homozygous PTPN11 case reports published, coming from two related consanguineous families.
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Nanismo , Síndrome de Noonan , Humanos , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Proteína Tirosina Fosfatase não Receptora Tipo 11/genética , Heterozigoto , FenótipoRESUMO
BACKGROUND: Rapid changes in the size of the pituitary gland occur during the pubertal period. Therefore, measuring and reporting magnetic resonance imaging (MRI) in adolescents with pituitary disorders can cause unease among radiologists. Our aim was to compare the size of the pituitary gland, stalk and other previously described imaging tools in patients with isolated hypogonadotropic hypogonadism (HH) versus adolescents with a normal pituitary gland. METHODS: Forty-one patients (22 female, 19 male, mean age 16.3 ±2.0 years) with HH who underwent MRI prior to starting hormone treatment were enrolled. Age, sex, and genetic mutations were noted. Pituitary height, width on the coronal plane, anteroposterior (AP) diameter on the sagittal plane, stalk thickness, pons ratio (PR), clivus canal angle (CCA) and Klaus index (KI) were measured by two radiologists twice with a one-month interval blinded to each other and patient information. Measurements were compared with the control group, including 83 subjects with normal hypothalamic-pituitary-gonadal axis and normal pituitary gland on MRI. Inter-rater and intra-rater agreements were also evaluated. RESULTS: No significant differences were found between the two groups regarding height, width or AP diameter (p = 0.437, 0.836, 0.681 respectively). No significant differences were found between the two groups regarding CCA and PR (p = 0.890, 0.412 respectively). The KI of the male patients was significantly higher than that of the female patients and the control group (p < 0.001). The interrater agreement was moderate for pituitary height and width, poor for pituitary AP diameter and stalk thickness, good for PR and KI, and excellent for CCA. CONCLUSIONS: The measurements of the pituitary gland, stalk and posterior fossa structures were similar in adolescents with or without isolated HH. Consequently, pituitary gland, stalk or other posterior fossa measurements are unnecessary when evaluating a normal appearing pituitary gland on MRI.
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Hipogonadismo , Doenças da Hipófise , Humanos , Adolescente , Masculino , Feminino , Estudos Retrospectivos , Hipófise/diagnóstico por imagem , Hipófise/patologia , Doenças da Hipófise/patologia , Imageamento por Ressonância Magnética/métodos , Hipogonadismo/diagnóstico por imagem , Hipogonadismo/patologiaRESUMO
AIM: To describe the Turkish generalized lipodystrophy (GL) cohort with the frequency of each complication and the death rate during the period of the follow-up. METHODS: This study reports on 72 patients with GL (47 families) registered at different centres in Turkey that cover all regions of the country. The mean ± SD follow-up was 86 ± 78 months. RESULTS: The Kaplan-Meier estimate of the median time to diagnosis of diabetes and/or prediabetes was 16 years. Hyperglycaemia was not controlled in 37 of 45 patients (82.2%) with diabetes. Hypertriglyceridaemia developed in 65 patients (90.3%). The Kaplan-Meier estimate of the median time to diagnosis of hypertriglyceridaemia was 14 years. Hypertriglyceridaemia was severe (≥ 500 mg/dl) in 38 patients (52.8%). Seven (9.7%) patients suffered from pancreatitis. The Kaplan-Meier estimate of the median time to diagnosis of hepatic steatosis was 15 years. Liver disease progressed to cirrhosis in nine patients (12.5%). Liver disease was more severe in congenital lipodystrophy type 2 (CGL2). Proteinuric chronic kidney disease (CKD) developed in 32 patients (44.4%) and cardiac disease in 23 patients (31.9%). Kaplan-Meier estimates of the median time to diagnosis of CKD and cardiac disease were 25 and 45 years, respectively. Females appeared to have a more severe metabolic disease, with an earlier onset of metabolic abnormalities. Ten patients died during the follow-up period. Causes of death were end-stage renal disease, sepsis (because of recurrent intestinal perforations, coronavirus disease, diabetic foot infection and following coronary artery bypass graft surgery), myocardial infarction, heart failure because of dilated cardiomyopathy, stroke, liver complications and angiosarcoma. CONCLUSIONS: Standard treatment approaches have only a limited impact and do not prevent the development of severe metabolic abnormalities and early onset of organ complications in GL.
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Diabetes Mellitus , Hipertrigliceridemia , Lipodistrofia Generalizada Congênita , Lipodistrofia , Infarto do Miocárdio , Insuficiência Renal Crônica , Feminino , Humanos , Turquia/epidemiologia , Estudos de Coortes , Infarto do Miocárdio/complicações , Insuficiência Renal Crônica/complicações , Estimativa de Kaplan-Meier , Hipertrigliceridemia/complicaçõesRESUMO
CONTEXT: Homozygous leptin (LEP) and leptin receptor (LEPR) variants lead to childhood-onset obesity. OBJECTIVE: To present new cases with LEP and LEPR deficiency, report the long-term follow-up of previously described patients, and to define, based on all reported cases in literature, genotype-phenotype relationships. METHODS: Our cohort included 18 patients (LEP = 11, LEPR = 7), 8 of whom had been previously reported. A systematic literature review was conducted in July 2022. Forty-two of 47 studies on LEP/LEPR were selected. RESULTS: Of 10 new cases, 2 novel pathogenic variants were identified in LEP (c.16delC) and LEPR (c.40 + 5G > C). Eleven patients with LEP deficiency received metreleptin, 4 of whom had been treated for over 20 years. One patient developed loss of efficacy associated with neutralizing antibody development. Of 152 patients, including 134 cases from the literature review in addition to our cases, frameshift variants were the most common (48%) in LEP and missense variants (35%) in LEPR. Patients with LEP deficiency were diagnosed at a younger age [3 (9) vs 7 (13) years, P = .02] and had a higher median body mass index (BMI) SD score [3.1 (2) vs 2.8 (1) kg/m2, P = 0.02], which was more closely associated with frameshift variants (P = .02). Patients with LEP deficiency were more likely to have hyperinsulinemia (P = .02). CONCLUSION: Frameshift variants were more common in patients with LEP deficiency whereas missense variants were more common in LEPR deficiency. Patients with LEP deficiency were identified at younger ages, had higher BMI SD scores, and had higher rates of hyperinsulinemia than patients with LEPR deficiency. Eleven patients benefitted from long-term metreleptin, with 1 losing efficacy due to neutralizing antibodies.
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Hiperinsulinismo , Obesidade Infantil , Humanos , Leptina/genética , Receptores para Leptina/genética , Polimorfismo de Nucleotídeo Único , Estudos Multicêntricos como AssuntoRESUMO
BACKGROUND AND PURPOSE: There are a few studies regarding intracranial findings in neonates with Noonan syndrome (NS); however, there are no quantitative analyses in a pediatric population. The aim of this study was to find characteristic intracranial abnormalities and to quantitatively analyze the posterior fossa and cranium base in children with NS. METHODS: A total of 30 patients (11 females and 19 males, mean age 13.1 ± 4.3 years) were retrospectively identified between July 2017 and June 2022. Twenty-one patients had MRI. Age at MRI examination, sex, genetic mutations, and clinical findings were noted. In patients with MRI, the presence of white matter lesions, basal ganglia lesions, corpus callosum abnormalities, sellar/parasellar lesions, and tonsillar ectopia was noted. For morphometric analysis, cerebellar diameter, vermis and clivus heights, cranial base, tentorial and infratentorial angles, and McRae's and Twining's lines were each measured twice by two radiologists individually. RESULTS: The most common lesions were focal white matter lesions, followed by abnormalities of the splenium of the corpus callosum. The cerebellar diameter, vermis and clivus heights, Twining's line, and infratentorial angle were significantly smaller; cranial base angle and tentorial angle were significantly larger in NS (p < .05). Interrater and intrarater agreements were the highest for cerebellar diameter and the lowest for tentorial angle measurements. CONCLUSION: Children with NS had characteristic callosal and tentorial findings and neuroimaging findings similar to other RASopathies. This study also shows that a small posterior fossa and flattening of the cranial base are present in children with NS, which may aid in diagnosis.
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Síndrome de Noonan , Masculino , Recém-Nascido , Feminino , Humanos , Criança , Adolescente , Estudos Retrospectivos , Síndrome de Noonan/patologia , Base do Crânio , Neuroimagem , Cerebelo/patologia , Fossa Craniana Posterior/patologia , Imageamento por Ressonância Magnética/métodosRESUMO
Congenital generalized lipodystrophy (CGL) is a rare, autosomal recessive disorder characterized by an almost complete absence of body fat. In CGL, patients may have hyperphagia due to leptin deficiency. Recombinant human leptin (metreleptin) has been suggested as an effective treatment option. We present successful treatment with metreleptin in a boy with CGL and results from the first year of follow-up. An eight-month-old boy presented with excessive hair growth and a muscular appearance. On examination he had hypertrichosis, decreased subcutaneous adipose tissue over the whole body and hepatomegaly. Laboratory investigations revealed hypertriglyceridemia, hyperinsulinemia, elevated liver transaminases and low leptin levels. Molecular genetic analysis detected a homozygous, c.465_468delGACT (p.T156Rfs*8) mutation in the BSCL2 gene. A diagnosis of CGL type 2 was considered. Despite dietary intervention, exercise, and treatment with additional omega-3 and metformin, the hypertriglyceridemia, hyperinsulinemia, and elevated liver transaminase levels worsened. Metreleptin treatment was started and after one year hyperphagia had disappeared, and there was dramatic improvement in levels of insulin, hemoglobin A1c, triglycerides and liver transaminases. Hepatosteatosis was lessened and hepatosplenomegaly was much improved. Metreleptin appears to be an effective treatment option in children with CGL that remarkably improved metabolic complications in the presented case. Initiation of metreleptin treatment in the early period may decrease mortality and morbidity, and increase the quality of life in children with CGL.
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Subunidades gama da Proteína de Ligação ao GTP , Hiperinsulinismo , Hipertrigliceridemia , Lipodistrofia Generalizada Congênita , Criança , Humanos , Lactente , Masculino , Subunidades gama da Proteína de Ligação ao GTP/genética , Subunidades gama da Proteína de Ligação ao GTP/metabolismo , Hiperinsulinismo/complicações , Hiperfagia/complicações , Hipertrigliceridemia/complicações , Leptina/genética , Leptina/metabolismo , Lipodistrofia Generalizada Congênita/tratamento farmacológico , Lipodistrofia Generalizada Congênita/genética , Lipodistrofia Generalizada Congênita/complicações , Mutação , Qualidade de VidaRESUMO
AIM: Triple-A Syndrome (TAS) is a rare autosomal recessive disorder characterized by adrenal insufficiency, achalasia, and alacrimia. This disorder is caused by mutations in the AAAS gene. The aim of this study is to discuss the clinical, laboratory and molecular genetic analysis results of 12 patients with TAS. METHOD: We evaluated 12 patients from 8 families. Clinical and laboratory data were retrospectively collected from the medical records of the patients in the database for the period 2015-2020. All exons and exon-intron junctions of the AAAS gene were evaluated by next-generation sequencing method. Detected variants were classified according to American Collage of Medical Genetics criteria. RESULTS: Alacrimia was found in all patients (100%); achalasia was found in 10 patients (83.3%) and adrenal insufficiency was found in 10 patients (83.3%). In addition, hyperreflexia(6/12), learning disability(5/12), hypernasal speech(5/12), muscle weakness(8/12), delayed walking(7/12), delayed speech(6/12), excessive sweating(7/12), optic atrophy(1/12), epilepsy(1/12), palmoplantar hyperkeratosis(5/12), multiple dental caries(9/12), atrophy of the thenar/hypothenar muscles(4/12) and short stature(4/12) were detected. The DHEA-S levels were measured in 10 patients and were found to be low in 8 of them. In all patients, the sodium and potassium levels were found to be normal. AAAS gene sequencing revealed four previously reported c.1066_1067del (p.Leu356fs*8), c.1432 C > T (p.Arg478*), c.688 C > T (p.Arg230*), and c.1368_1372del (p.Gln456fs*38) variants and two novel homozygous c.1250-1 G > A and c.398_399 + 2del variants in the AAAS gene. CONCLUSION: We detected two novel variants in the AAAS gene. While the classic triad is present in 66.7% of the cases, neurological dysfunction, skin and dental pathologies also occur quite frequently. The earliest and most common finding of TAS is alacrimia. Therefore, adrenal insufficiency should be investigated in all patients with alacrimia and if necessary, genetic analysis should be performed for TAS. In addition, TAS should be followed up with a multidisciplinary approach since it involves many systems.
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Insuficiência Adrenal , Cárie Dentária , Acalasia Esofágica , Humanos , Acalasia Esofágica/genética , Turquia/epidemiologia , Estudos Retrospectivos , Insuficiência Adrenal/diagnóstico , Insuficiência Adrenal/genéticaRESUMO
BACKGROUNDS: During the Coronavirus-19 disease (Covid-19) pandemic it was observed that the number of girls presenting with early puberty had increased. The aim of this study was to carry out a retrospective evaluation of the characteristics of girls who had been referred for evaluation of precocious puberty in five different pediatric endocrinology units, before and during the pandemic. METHODS: The study participants comprised 359 girls who were assigned into 2 groups a pre-pandemic group (n:214) and a pandemic group (n:145). Those participants (n:99) who had medical records in the follow-up period were classified into 3 subgroups according to the time of presentation and follow-up visits (group-1: first admission and follow-up visit before the pandemic, group-2: first admission before the pandemic, the follow-up visit during the pandemic, group-3: first admission and follow-up visit during the pandemic). RESULTS: The age at presentation and age at pubertal onset were both significantly lower in the pandemic group than those in the pre-pandemic group(8.1 vs 8.6, p: < 0.001,7.7 vs 7.9,p:0.013, respectively). There was no significant difference between the body mass index standard deviation scores (BMI-SDS) values of the groups (0.57 vs 0.51, p:0.430). The initiation rate of pubertal suppression therapy at the time of presentation was significantly higher in the pandemic group compared to that of the pre-pandemic group (7.7%vs 27.5%), and in groups-2 & 3 compared to group-1, during follow-up (20%&44%vs 8%). CONCLUSION: Our research showed that the onset of puberty occurred earlier in the pandemic period compared to the previous year, and the need for pubertal suppression therapy increased during the pandemic.
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COVID-19 , Puberdade Precoce , COVID-19/epidemiologia , Criança , Estudos Transversais , Feminino , Humanos , Pandemias , Puberdade , Puberdade Precoce/diagnóstico , Puberdade Precoce/epidemiologia , Estudos Retrospectivos , Turquia/epidemiologiaRESUMO
Objective: The incidence of type 1 diabetes mellitus (T1D) in children has an increasing trend globally, with a variable rate depending on region and ethnicity. Our group first reported T1D incidence in Diyarbakir in 2011. The aim of this study was to evaluate the current incidence rate of pediatric T1D in Diyarbakir, and compare the incidence, and clinical and presenting characteristics of more recent cases with those reported in our first report. Methods: Hospital records of patients diagnosed with T1D in Diyarbakir city between 1st January 2020 and 31st December 2020 and aged under 18 years old were retrieved, and their medical data was extracted. Demographic population data were obtained from address-based census records of the Turkish Statistical Institution (TSI). Results: Fifty-seven children and adolescents were diagnosed with T1D. Of those, 34 were female (59.6%), indicating a male/female ratio of 1.47. The mean age at diagnosis was 9.5±3.9 years (0.8-17.9). TSI data indicated a population count of 709,803 for the 0-18 years age group. Thus the T1D incidence was 8.03/105 in the 0-18 age group and was higher in the 0-14 age group at 9.14/105. The cumulative increase in the incidence of T1D in the 0-14 age group was 26.9% suggesting an increasing rate of 2.7% per year. The frequency of presentation with diabetic ketoacidosis was 64.9%. Conclusion: The annual incidence of pediatric T1D in Diyarbakir city increased from 7.2/105 to 9.14/105 within the last decade. The rate of annual increase was 2.7% in the 0-14 age group comparing this study with our earlier report, with a predominance in male subjects and a shift of peak incidence from the 5-9 year age group in the first study to the 10-14 year age group in this one.
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Diabetes Mellitus Tipo 1 , Cetoacidose Diabética , Adolescente , Idoso , Criança , Diabetes Mellitus Tipo 1/complicações , Cetoacidose Diabética/epidemiologia , Cetoacidose Diabética/etiologia , Feminino , Humanos , Incidência , Masculino , Turquia/epidemiologiaRESUMO
OBJECTIVES: To examine sleep and behavior problems in children with type 1 Diabetes Mellitus (T1DM) compared to nondiabetic controls in a bridging country between east and west and to evaluate the interaction of sleep on behavior problems, maternal sleep, and maternal depressive symptoms. METHODS: The study included children with T1DM (4-12 years old) and age/sex-matched healthy controls. Parents completed the Children Sleep Habits Questionnaire (CSHQ), Children Behavior Checklist/4-18 (CBCL/4-18), Pittsburgh Sleep Quality Index (PSQI), Beck Depression Inventory (BDI), and a study-specific sociodemographic questionnaire. Clinical parameters regarding T1DM were collated from medical records. RESULTS: Participants included 75 children with T1DM and 49 controls. Based on CSHQ results 65.3% of all participants in both groups had sleep problems. Children with T1DM slept less and had higher daytime sleepiness problems than controls (p=0.024, p=0.008, respectively). No association was found between CSHQ or sleep duration and mode of diabetes treatment (pump, multiple daily injections) or glycemic control. CSHQ correlated with maternal PSQI (r=0.336 p=0.004) and BDI (r=0.341 p=0.004) in children with T1DM, but there was no association amongst controls. Children with T1DM had higher internalizing problems compared to controls. CSHQ and BDI correlated with internalizing, externalizing, and the total scores of the CBCL/4-18 in children with T1DM (R2=0.260 p<0.001; R2=0.207 p<0.001, R2=0.381 p<0.001 respectively). In controls, only BDI was associated with internalizing, externalizing, and the total scores of the CBCL/4-18. CONCLUSIONS: Children with T1DM should be evaluated for sleep pattern and quality at follow-up, to identify those at risk for behavior problems and improve maternal life quality. Large longitudinal studies are necessary to assess the effect of new diabetes treatment modalities on sleep.
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Transtornos do Comportamento Infantil/etiologia , Diabetes Mellitus Tipo 1/etiologia , Diabetes Mellitus Tipo 1/psicologia , Comportamento Problema , Transtornos do Sono-Vigília/etiologia , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Saúde MentalRESUMO
Introduction: Free hormones are biologically more active in target tissues. Thus, measurement of vitamin D taking into account bioavailability and free vitamin D may be preferable, especially when evidence is contradictory, as in obese children. In order to assess bioavailablity and free vitamin D, using a previously reported formula, vitamin D-binding protein (VDBP) level was measured and VDBP polymorphisms were also evaluated because of variations in binding affinity. Methods: Eighty-four obese and 78 healthy children were included. Anthropometry, calcium, phosphorus, alkaline-phosphatase, parathyroid hormone (PTH), 25 hydroxyvitamin D [25(OH)D], bioavailable-free vitamin D, and VDBP concentration and polymorphism were evaluated in the whole group. Results: Obese girls had significantly higher PTH than normal weight girls (p=0.001). Regardless of gender, obese children had significantly higher concentrations of VDBP (p=0.008) and PTH (p=0.002). When samples taken in winter were analyzed, PTH and VDBP were found to be higher and bioavailable and free vitamin D lower in the obese group. There was no difference in terms of total vitamin D between groups during the winter season. Conclusion: While total, free, and bioavailable vitamin D in the obese group was similar to the control group in autumn, free and bioavailable vitamin D in the winter was lower in the obese than the control group. In addition, PTH was higher in the obese group in both autumn and winter. Therefore, more research is needed to evaluate the variability of free and bioavailable vitamin D according to body habitus, season and the effect any differences may have.
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Obesidade Infantil/sangue , Deficiência de Vitamina D/sangue , Proteína de Ligação a Vitamina D/sangue , Proteína de Ligação a Vitamina D/genética , Vitamina D/análogos & derivados , Vitamina D/sangue , Adolescente , Disponibilidade Biológica , Criança , Feminino , Humanos , Masculino , Estações do AnoRESUMO
OBJECTIVES: Polycystic ovary syndrome (PCOS) is an endocrinopathy, in which hyperandrogenism and hyperinsulinism have both occurred. Fetuin-A, a natural inhibitor of tyrosine kinase, leads to insulin resistance. The aim was to evaluate the relationship between fetuin-A and hyperandrogenism and hyperinsulinism and the role of fetuin-A in the pathophysiology of PCOS. METHODS: Thirty-eight cases with PCOS and 40 healthy adolescents were included in the study. PCOS and controls were divided into obese/non-obese subgroups. LH, FSH, total and free testosterone (TT, FT), SHBG, androstenedione, DHEAS were measured in patients with PCOS. Fasting glucose, insulin, lipid profile, AST, ALT, HsCRP, and fetuin levels of PCOS patients and healthy controls were also measured. RESULTS: Fetuin-A levels were higher in PCOS patients than in controls. In the obese-PCOS group, when compared to non-obese PCOS patients; the levels of SHBG and HDL were low while cholesterol, LDL, triglyceride, HOMA-IR, FT, FAI, and HSCRP levels were high, but Fetuin-A levels were similar. In the obese-PCOS group, fetuin-A levels were higher than in obese-controls. HOMA-IR and fetuin-A levels were higher in non-obese PCOS patients than in non-obese controls. In the PCOS group, fetuin-A was positively correlated with TT, FT, FAI and androstenedione and negatively correlated with SHBG. Regression analysis demonstrated that FT, SHBG, and androstenedione significantly predicted fetuin-A levels (R2=54%). In non-obese PCOS patients and controls, fetuin-A was positively correlated with insulin and HOMA-IR. CONCLUSIONS: These results suggest a relationship between androgen levels and fetuin-A in PCOS cases, independent of insulin resistance, and may shed light on further studies.
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Síndrome do Ovário Policístico/etiologia , alfa-2-Glicoproteína-HS/fisiologia , Adolescente , Feminino , Humanos , Insulina/sangue , Resistência à Insulina , Lipídeos/sangue , Síndrome do Ovário Policístico/sangue , Globulina de Ligação a Hormônio Sexual/análise , Testosterona/sangue , alfa-2-Glicoproteína-HS/análiseRESUMO
Objective: We aimed to evaluate the clinical, radiological and pathological findings of children and adolescents with thyroid nodules. Methods: Data of 121 children and adolescent with thyroid nodules and had fine needle aspiration (FNA) were examined retrospectively. Concomitant thyroid disease, ultrasonography (US) features of the nodule, FNA and histopathological results were recorded. FNA results were assessed according to The Bethesda System for Reporting Thyroid Cytopathology (TBSRTC). Results: Median (range) age of the cases was 14 (3-18) years and 81% were female. FNA results of patients were: insufficient in 1 (0.8%); benign in 68 (56.2%); indeterminate in 44 (36.4%); and malignant in 8 (6.6%) patients. Among 39 patients who underwent surgery, 10 (25.6%) had differentiated thyroid cancer (DTC) and the overall malignancy rate was 10.0% (10/100). Follow-up FNA results showed progress based on TBSRTC in 18.7% of benign results and 4/75 patients had DTC on surgical excision. Two of 22 patients with atypia of undetermined significance (AUS) who continued follow-up was diagnosed with DTC. Male gender, presence of Hashimoto thyroiditis and US findings of uninodularity, hypoechogenicity, increased blood flow, irregular margins, solid structure, microcalcification and presence of abnormal cervical lymph nodes were associated with malignancy. Conclusion: In this study 10% of thyroid nodules were malignant in children and adolescents. Patients with AUS have a 9% potential for malignancy. Patients with initially benign FNA result may have changes on repeat FNA when assessed with TBSTRC indicating a 5.3% false negative rate.
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Câncer Papilífero da Tireoide/diagnóstico , Neoplasias da Glândula Tireoide/diagnóstico , Nódulo da Glândula Tireoide/diagnóstico , Ultrassonografia , Adolescente , Fatores Etários , Biópsia por Agulha Fina , Criança , Pré-Escolar , Tomada de Decisão Clínica , Reações Falso-Negativas , Feminino , Humanos , Masculino , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Câncer Papilífero da Tireoide/diagnóstico por imagem , Câncer Papilífero da Tireoide/patologia , Câncer Papilífero da Tireoide/cirurgia , Neoplasias da Glândula Tireoide/diagnóstico por imagem , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/cirurgia , Nódulo da Glândula Tireoide/diagnóstico por imagem , Nódulo da Glândula Tireoide/patologia , Nódulo da Glândula Tireoide/cirurgia , Tireoidectomia , TurquiaRESUMO
Androgens play a pivotal role in non-reproductive organs such as the kidney, heart, liver, and pancreas. As androgen receptors are expressed in pancreatic and liver cells, excess testosterone can result in hypersecretion of insulin and fetuin-A, a protein produced in the liver. The expression of fetuin-A, a natural inhibitor of tyrosine kinase activity in muscle and liver, leads to insulin resistance. In addition, insulin and fetuin-A levels are thought to be affected by drugs such as glucocorticoids (GCs) and fludrocortisone. However, whether fetuin-A and insulin levels are affected by androgens and GCs in patients with classic congenital adrenal hyperplasia (CAH) is unknown. This cross-sectional study included 56 CAH patients and 70 controls. Analyses were stratified by sex and prepubertal/pubertal status to control for potential changes in serum metabolic/inflammatory markers associated with the production of sex steroids. Fasting blood glucose, insulin, triglyceride, total cholesterol, high density lipoprotein-cholesterol, aspartate aminotransferase, alanine aminotransferase, fetuin-A, and high-sensitivity C-reactive protein (hs-CRP) levels were measured in blood samples. In addition, 17α-hydroxyprogesterone, androstenedione, total testosterone, free testosterone, and dehydroepiandrosterone sulfate levels were measured before medication was administered. Insulin and fetuin-A levels were significantly higher in CAH patients than in controls. The unfavourably high levels of these substances exhibited a positive correlation with total and free testosterone. Regression analysis revealed that fetuin-A and free testosterone were the only independent predictors of the insulin level, while insulin and free testosterone levels significantly predicted the fetuin-A level (R2=42.7% and 59.8%). Differences were also observed in triglyceride and hs-CRP levels between the pubertal and prepubertal groups. We conclude that serum fetuin-A and insulin levels may be associated with androgens in CAH patients.
Assuntos
Hiperplasia Suprarrenal Congênita/patologia , Biomarcadores/sangue , Insulina/sangue , alfa-2-Glicoproteína-HS/análise , Hiperplasia Suprarrenal Congênita/sangue , Hiperplasia Suprarrenal Congênita/epidemiologia , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Prognóstico , Turquia/epidemiologiaRESUMO
BACKGROUND: In this study, we aimed to evaluate FSH, LH responses obtained during LHRH-ST according to two different cut-off values, to determine the diagnostic response times, and to find the optimal blood collection times that could reduce the economic and time burden of LHRH-ST. MATERIALS AND METHODS: Patients who underwent LHRH-ST in our clinic with the preliminary diagnosis of precocious puberty (PP) between 01/08/2016 and 31/12/2017 were retrospectively enrolled to the study. In this study 207 girls with PP were included and some of them (102 according to C1 and 139 according to C2) had central PP (CPP). Test response and response times were evaluated according to both cut-off values of stimulated peak LH pubertal responses as 5 mIU/ml (the 1st cut-off = C1) and 3.3 mIU/ml (the 2nd cut-off = C2). RESULTS: Totally, 207 girls with a mean age of 7.5 ± 1.22 (3.4-9.5) years were included in the study. With LHRH-ST; 49.2% (n = 102), 67% (n = 139) of the cases were in pubertal period according to C1, C2, respectively. According to C1; pubertal LH was present in 94.1% (n = 96) of 102 patients who reached pubertal LH value in 45th minutes. The highest pubertal response was obtained in the 45th minute. According to C2, of 139 patients who reached pubertal LH; pubertal LH was determined in 98.5% (n = 137) in the 45th minute. Pubertal LH levels were determined according to both cut-off values in all 27 patients with baseline LH ≥0.31 mIU/ml. CONCLUSION: It was determined that measuring LH at 45th minutes during LHRH-ST was sufficient in 94.1% of the cases according to C1 and 97.1% of the cases according to C2. It was concluded that the 30th, 45th, and 60th minute samples were enough to assess pubertal LH response in 100%of the cases. If the basal LH is found to be ≥0.31 mIU/ml in girls with puberty findings, we recommend that the diagnosis of precocious puberty would be made without performing LHRH-ST.
RESUMO
Purpose: To investigate whether diabetes mellitus (DM) affects ocular surface of children with well-controlled type 1 DM.Methods: Sixty-five diabetic patients and 55 age-matched controls enrolled to study. Detailed ocular surface assessment including, ocular surface disease index (OSDI) questionnaire, tear film break-up time (TBUT) analysis, Schirmer test, and conjunctival impression cytologic analysis were performed.Results: Schirmer test and TBUT results were significantly lower in DM group than controls (p = 0.001, for all). OSDI scores of all participants were within normal range. Impression cytology analysis showed grade 0 changes in all participants and there was no difference between groups for goblet cell density (p > 0.05). The TBUT results were significantly associated with duration of DM (r = -0.309, p = 0.036).Conclusion: Diabetic children without symptoms, signs, and definite diagnosis of dry eye still had lower TBUT and Schirmer test results than controls; however, impression cytology analysis was similar in both groups.
Assuntos
Túnica Conjuntiva/patologia , Diabetes Mellitus Tipo 1/complicações , Síndromes do Olho Seco/diagnóstico , Lágrimas/metabolismo , Adolescente , Criança , Estudos Transversais , Diabetes Mellitus Tipo 1/metabolismo , Síndromes do Olho Seco/etiologia , Síndromes do Olho Seco/metabolismo , Feminino , Humanos , Masculino , Estudos Prospectivos , Microscopia com Lâmpada de Fenda , Inquéritos e QuestionáriosRESUMO
PURPOSE: To investigate whether abnormal glucose metabolism in diabetes mellitus (DM) affects the retinal microcirculation of children with well-controlled type 1 DM and to compare these results with those obtained from healthy children. DESIGN: Cross-sectional prospective study. METHODS: This study enrolled 60 patients with DM without clinically detectable diabetic retinopathy (DR) and 57 age-matched control subjects. Optical coherence tomography angiography (OCT-A) was performed using AngioVue (Avanti, Optivue). Foveal avascular zone (FAZ) area, nonflow area, superficial and deep vessel densities, FAZ perimeter, acircularity index of FAZ (AI; the ratio of the perimeter of FAZ and the perimeter of a circle with equal area), and foveal density (FD-300; vessel density in 300 µm around FAZ) were analyzed. Correlations between the investigated OCT-A parameters with DM duration and glycated hemoglobin (HbA1c) levels were evaluated among patients with type 1 DM. RESULTS: Differences in the mean values for FAZ perimeter, AI, and FD-300 were statistically significant between DM group and control group (P < .001, P = .001, and P = .009, respectively). There were also statistically significant differences between the groups for vessel densities of deep superior hemi-parafovea, deep temporal parafovea, and deep superior parafoveal zones (P = .008, P = .015, and P = .005, respectively). There were no significant correlations between DM duration and HbA1c levels with the investigated OCT-A parameters. CONCLUSION: Diabetic eyes without clinically detectable DR exhibited alterations in FD-300, AI, perimeter, and vessel density of parafoveal capillaries in deep capillary plexus preceding the enlargement of FAZ; therefore, these new parameters might be sensitive imaging biomarkers to define early DR.