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UNLABELLED: Aim The purpose of our study was to evaluate the association between insulin resistance and left ventricular size and function in obese children. Material and methods A total of 79 cases aged 10-16 years and diagnosed with obesity and 79 healthy and non-obese cases as controls were included in the study. Patient and control groups were divided into three groups in terms of age as group 1 (10-12 years), group 2 (12-14 years), and group 3 (14-16 years). Fasting blood glucose, lipid profile, and fasting insulin levels of the cases were assessed. Mitral valve E and A waves, left ventricular ejection fraction, fractional shortening, end-diastolic and end-systolic diameters, left atrium diameter, and septal wall thickness were measured using echocardiography. RESULTS: Measurements of septal diastolic thicknesses, left atrium diameter, and left ventricular end-systolic diameter of all the three groups obtained by echocardiography were statistically higher compared with the controls. In all the patient groups, the mitral valve E/A ratio was >1. In groups 2 and 3, there was a positive correlation between fasting insulin levels and HOMA-IR and left ventricular end-systolic diameter, end-diastolic diameter, and septal systolic and diastolic wall thicknesses. CONCLUSION: In paediatric obesity, identification of early cardiac changes will be significant in allowing early diagnosis and treatment of cardiovascular diseases.
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Atrios Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/diagnóstico por imagen , Resistencia a la Insulina , Obesidad Infantil/diagnóstico por imagen , Función Ventricular Izquierda , Adolescente , Estudios de Casos y Controles , Niño , Ecocardiografía , Femenino , Humanos , Masculino , TurquíaRESUMEN
OBJECTIVES: In this study, we evaluated the correlation between severity of deformity and cardiopulmonary function with regards to echocardiographic and spirometric findings. STUDY DESIGN: Twenty-five children, mean age 13.6 years, presenting with pectus excavatum between August 2012 and May 2013, were included. Haller index (HI) was calculated for each patient. Patients with an index of <2.5 were accepted as Group 1, 2.5-3.6 as Group 2, and >3.6 as Group 3. Left ventricle dimension, ejection fraction, and shortening fraction were evaluated with echocardiography. Using spirometry, forced vital capacity (FVC), forced expiratory volume in the first second (FEV1), and FEV1/FVC ratio were calculated. Groups were compared using these parameters. RESULTS: There were 18 males and 7 females. The mean index was 3.48±0.78. Though there was no significant difference in the index with regards to sex, the index increased with age. Eight percent of patients were in Group 1, 52% in Group 2 and 40% in Group 3. A significant decrease in ejection and shortening fractions was evident as the index increased. A statistically significant relation between HI and cardiac dysfunction was evident (p<0.01). As the index increased, there was significant decrease in FEV1 and the FEV1/FVC ratio, while there was no significant difference in FVC. As the deformity worsened, incidence of pulmonary dysfunction was found to be higher. CONCLUSION: This study revealed that pectus excavatum leads to cardiac and pulmonary problems, and functions of the left ventricle may be affected by the deformity. Furthermore, the relation between the severity of the deformity and cardiovascular function is evident.
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Tórax en Embudo/diagnóstico por imagen , Tórax en Embudo/fisiopatología , Adolescente , Niño , Estudios de Cohortes , Ecocardiografía , Femenino , Volumen Espiratorio Forzado , Humanos , Masculino , Índice de Severidad de la Enfermedad , Espirometría , Capacidad VitalRESUMEN
Objective: Monogenic diabetes is a heterogeneous disease that causes functional problems in pancreatic beta cells and hyperglycemia. The aim of this study was to determine the clinical and laboratory features, the admission characteristics and distribution of monogenic form of diabetes in childhood in Turkey. Methods: Patients aged 0-18 years, who were molecularly diagnosed with monogenic diabetes, and consented to participate, were included in the study. Results: Seventy-seven (45.6%) female and 92 male cases with a mean age of 8.18±5.05 years at diagnosis were included. 52.7% of the cases were diagnosed with monogenic diabetes by random blood glucose measurement. The reason for genetic analysis in 95 (56.2%) of cases was having a family member diagnosed with diabetes under the age of 25. At the time of diagnosis, ketone was detected in urine in 16.6% of the cases. Mean hemoglobin A1c on admission, fasting blood glucose, fasting insulin, and c-peptide values were 7.3±2.1%, 184.9±128.9 mg/dL, 9.4±22.9 IU/L, 1.36±1.1 and ng/L respectively. GCK-MODY was found in 100 (59.2%), HNF1A-MODY in 31 (18.3%), and variants in ABCC8 in 6 (3.6%), KCNJ11 in 5 (3%), HNF4A in 2 (1.2%), and HNF1B in 2 (1.2%). Conclusion: Recent studies have indicated HNF1A-MODY is the most frequent of all the MODY-monogenic diabetes cases in the literature (50%), while GCK-MODY is the second most frequent (32%). In contrast to these reports, in our study, the most common form was GCK-MODY while less than 20% of cases were diagnosed with HNF1A-MODY.
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Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Adolescente , Edad de Inicio , Niño , Preescolar , Estudios Transversales , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/genética , Femenino , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Linaje , TurquíaRESUMEN
Aromatase deficiency rarely causes a 46,XX sexual differentiation disorder. The CYP19A1 gene encodes the aromatase enzyme which catalyses the conversion of androgens to oestrogens. In cases with 46,XX karyotype, mutations in the CYP19A1 gene can lead to disorders of sex development. Clinical findings in aromatase deficiency vary depending on the degree of deficiency. The effect of increased androgens, including acne, cliteromegaly and hirsutism, can be observed in mothers with placental aromatase deficiency. A decrease in maternal virilisation symptoms is observable in the postpartum period. It is rarely reported that there is no virilization in pregnancy. In this study, two 46,XX sibling having the p.R115X (c.343 C>T) novel pathogenic variant in the CYP19A1 gene and raised as different genders, with no maternal virilisation during pregnancy, are presented. In conclusion, 46,XX virilised females should be examined in terms of aromatase deficiency once congenital adrenal hyperplasia has been excluded, even if there is no history of maternal virilisation during pregnancy.
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Trastornos del Desarrollo Sexual 46, XX/genética , Aromatasa/deficiencia , Ginecomastia/genética , Infertilidad Masculina/genética , Errores Innatos del Metabolismo/genética , Trastornos del Desarrollo Sexual 46, XX/complicaciones , Trastornos del Desarrollo Sexual 46, XX/etiología , Adolescente , Aromatasa/genética , Niño , Femenino , Ginecomastia/complicaciones , Humanos , Infertilidad Masculina/complicaciones , Masculino , Errores Innatos del Metabolismo/complicaciones , HermanosRESUMEN
Thyroid hormone receptor alpha (THRA) gene mutation is a thyroid hormone resistance syndrome characterized by near-normal thyroid function tests and tissue-specific hypothyroidism. In this case study, we report a novel de novo p.G291S heterozygous mutation in the THRA gene was detected at mutation analysis. A 4-year-old male patient was admitted due to short stature, motor-mental retardation, and constipation. At physical examination, coarse facial appearance, eyelid edema, pallor, and umbilical hernia were observed. Primary thyroid hormone resistance should be considered in patients with phenotypically hypothyroid features. Laboratory analysis found moderate elevation in free triiodothyronine (T3) levels, normochromic normocytic anemia, and elevated creatine kinase levels. In conclusion, THRA gene mutation should be considered in patients with clinical hypothyroid findings and increased/moderately elevated free T3, decreased/ normal free thyroxine, normal thyroid-stimulating hormone levels, and increased muscle enzymes.
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Mutación Missense , Receptores alfa de Hormona Tiroidea/genética , Síndrome de Resistencia a Hormonas Tiroideas/genética , Sustitución de Aminoácidos , Preescolar , Análisis Mutacional de ADN , Estudios de Seguimiento , Humanos , Masculino , Polimorfismo de Nucleótido Simple , Pruebas de Función de la Tiroides , Síndrome de Resistencia a Hormonas Tiroideas/diagnósticoRESUMEN
BACKGROUND: The effect on final height of gonadotropin-releasing hormone analogues (GnRHa) used in the treatment of precocious puberty is controversial. The aim of this study was to determine whether or not GnRHa therapy would make any contribution to final height in precocious puberty of girls with onset of pubertal characteristic development aged 6 - 8 years. METHODS: Age at start of puberty, target height standard deviation score (SDS) presentation, follow-up height SDS, body mass index (BMI) SDS, bone age and predicted adult height of 34 female subjects who had reached their final height and with pubertal findings beginning at the ages of 6 - 8 were evaluated. These subjects were divided into two groups: treatment and non-treatment groups. The treatment group was further divided into two subgroups, receiving monthly or three-monthly depot GnRHa. RESULTS: Age at onset of puberty was 7.2 ± 0.9 years. Twenty-five cases were started on GnRHa and nine were followed-up without treatment. Fourteen cases received monthly 3.75 mg depot triptorelin acetate and 11 received three-monthly 11.25 mg depot. Mean age at start of treatment in the treatment group was 9.1 ± 1.2 years and mean bone age was 9.7 ± 2.3 years. Age at presentation in the non-treatment group was 8.4 ± 1.4 years and bone age was 10.3 ± 2.1 years. Target and final height SDS were similar in all the groups (P > 0.05). No difference was determined between the treatment groups in terms of initial height SDS, bone age, length of treatment, final height SDS or BMI SDS (P > 0.05). CONCLUSIONS: GnRHa therapy did not make a positive contribution to final height in precocious puberty of girls with onset of puberty aged 6 - 8 years.
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[This corrects the article DOI: 10.14740/jocmr3710.].
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ABSTRACT Objective This study aimed to assessment the risk factors affecting development of hypothyroidism and to examine the selected dietary micronutrient intakes of primary hypothyroidism, subclinical hypothyroidism and euthyroid individuals comparing the healthy control group, and to evaluate the relationship between dietary micronutrient intakes and serum thyroid hormones. Additionally, this study planned to observe anxiety severities in different hypothyroidism groups. Methods This case-control study was carried out with 120 individuals: 60 in the patient group and 60 in the control group. The patient group was further subdivided into primary hypothyroidism, subclinical hypothyroidism, and euthyroid groups. A questionnaire and the Beck Anxiety Inventory were administered to all participants. 24-hour food consumption records, anthropometric measurements, biochemical parameters were taken. Results When serum vitamin D level increased by one unit (ng/mL), risk of disease decreased by 1%; and when age (year) increased by one unit, risk of disease increased by 5.1%. Dietary micronutrient intakes were similar in all groups. There were negative correlations between serum T4 levels and selenium intake in primary hypothyroidism group, and serum TSH levels and copper intake in subclinical hypothyroidism group, and serum TSH levels and iodine intake in control group. Beck Anxiety Inventory scores of patient groups were higher than control group. There was no statistically difference between primary, subclinical and euthyroid hypothyroidism groups in terms of anxiety scores. Conclusion Serum vitamin D level and age affected the risk of hypothyroidism. Micronutrient intake was associated with thyroid parameters. Anxiety was higher in hypothyroid patients, independent of thyroid hormone levels.
RESUMO Objetivo Este estudo teve como objetivo avaliar os fatores de risco que afetam o desenvolvimento do hipotireoidismo e examinar os consumo de micronutrientes dietéticos selecionados em indivíduos com hipotireoidismo primário, hipotireoidismo subclínico e eutireoideo, comparando-os com o grupo controle saudável, e avaliar a relação entre os consumo de micronutrientes dietéticos e as hormonas tiroideias séricas. Além disso, este estudo objetivou observar a gravidade da ansiedade em diferentes grupos de hipotireoidismo. Métodos Este estudo de caso-controle foi realizado com 120 indivíduos: 60 no grupo pacientes e 60 no grupo controle. O grupo pacientes foi ainda subdividido em hipotireoidismo primário, hipotireoidismo subclínico, e grupos eutróide. Um questionário e o Inventário de Ansiedade de Beck foram administrados a todos os participantes. Foram recolhidos registos de consumo alimentar diário (i.e., 24 horas por dia), medições antropométricas, e parâmetros bioquímicos. Resultados Quando o nível de vitamina D no soro aumentou uma unidade (ng/mL), o risco de doença diminuiu 1%; e quando a idade (ano) aumentou uma unidade, o risco de doença aumentou 5.1%. A ingestão de micronutrientes na dieta foi semelhante em todos os grupos. Verificaram-se correlações negativas entre os níveis séricos de T4 e a ingestão de selênio no grupo com hipotireoidismo primário, e entre os níveis séricos de TSH e a ingestão de cobre no grupo com hipotireoidismo subclínico, e entre os níveis séricos de TSH e a ingestão de iodo no grupo controle. Pontuação do Inventário de Ansiedade de Beck dos grupos pacientes foram superiores ao grupo controle. Não houve diferença estatística entre os grupos de hipotireoidismo primário, subclínico e eutireoideo em termos de pontuação de ansiedade. Conclusão O nível sérico de vitamina D e a idade afetaram o risco de hipotireoidismo. A ingestão de micronutrientes foi associada aos parâmetros da tireoide. A ansiedade foram maior nos doentes com hipotireoidismo, independentemente dos níveis da hormona tiroideia.
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Teaching parents to conduct functional analyses and to implement functional communication training is an efficacious approach for treating socially maintained problem behavior (Derby et al., 1997). Research has found that delivering this assessment and intervention package via telehealth technologies is efficient and acceptable to caregivers in the United States (Wacker et al., 2013b). We replicated this work with families residing in rural and urban areas of eight countries. Two behavior therapists located in the United States conducted appointments in the participants' native languages, using interpreters as needed. Parent-implemented functional analyses and treatment with functional communication training were highly effective in reducing problem behavior in children diagnosed with autism. Furthermore, parents rated the procedures as acceptable and indicated that the treatment would be effective with their children. These findings indicate that telehealth technologies are a viable option for clinicians to provide behavior analysis services to families around the world.
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Terapia Conductista/educación , Comunicación , Padres/educación , Problema de Conducta/psicología , Telemedicina , HumanosRESUMEN
OBJECTIVE: To compare continuous subcutaneous insulin infusion (CSII) therapy with multiple daily insulin (MDI) therapy on metabolic control in children and adolescents with type 1 diabetes mellitus (T1DM) over the long term. METHODS: Fifty-two T1DM patients treated with CSII and monitored for at least one year prior to and at least five years following CSII were included. Thirty-eight age and sex-matched MDI controls with a 5-year follow up were recruited. RESULTS: Mean age of the subjects, duration of diabetes and CSII therapy were 17.0±4.8 years, 10.7±2.8 years and 7.7±1.5 years respectively. Mean hemoglobin A1c (HbA1c) in the year prior to CSII, during the first year of treatment and after 5 years of CSII were 7.3±1% (56 mmol/mol), 7.0±0.7% (53 mmol/mol) and 7.8±1.3% (62 mmol/mol) respectively. Initial and 5-year mean HbA1C levels of controls were 7.9±1.08% and 8.6±1.8%. Mean HbA1c values were significantly lower in those receiving CSII therapy throughout follow-up. Basal and total insulin doses were significantly lower in the CSII group at all times. HbA1c was compared between subjects by age (0-5, 6-11 and 12-18 years) with no significant difference between them. CONCLUSION: Although CSII mean HbA1c values exceeded accepted good metabolic control limits after 5 years, CSII produces better HbA1c control at all times and in all age groups compared to MDI.
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Diabetes Mellitus Tipo 1/sangre , Diabetes Mellitus Tipo 1/tratamiento farmacológico , Hemoglobina Glucada/análisis , Bombas de Infusión Implantables , Insulina/farmacología , Evaluación de Resultado en la Atención de Salud , Adolescente , Niño , Femenino , Estudios de Seguimiento , Humanos , Inyecciones Subcutáneas , Insulina/administración & dosificación , MasculinoRESUMEN
Numerous studies have demonstrated the efficacy of response interruption and redirection (RIRD) for reducing vocal stereotypy in children with autism. However, the procedure can be time-consuming to implement. Results of Saini, Gregory, Uran, and Fantetti (2015) suggested that an abbreviated variation of RIRD was just as effective as the commonly used variation of RIRD, but further research is needed. In addition, no studies have evaluated the role of toy removal on the efficacy of RIRD even though this procedural component is frequently combined with RIRD. We examined the separate and combined effects of RIRD and contingent toy removal when three children with autism were required to respond to one demand versus three demands. One-demand RIRD was effective for all participants, and the contingent removal of toys alone reduced responding for two of three participants. Findings have important implications for treating vocal stereotypy in relevant settings.
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Trastorno Autístico/terapia , Terapia Conductista/métodos , Juego e Implementos de Juego , Conducta Estereotipada , Niño , Preescolar , Femenino , Humanos , Masculino , Refuerzo en Psicología , Conducta VerbalRESUMEN
Persistent Müllerian duct syndrome is the result of either anti-Müllerian hormone (AMH) deficiency or AMH receptor resistance. A long tubular structure was palpated during the physical examination of a 13-month-old male patient who had presented with bilateral undescended testes. At physical examination, the testes were not palpable. The patient's karyotype was XY, SRY (+), and his AMH level was 22 ng/mol. Structures suggestive of ovaries, a uterus, and fallopian tubes were observed during the laparoscopic examination of the ectopic testis. AMHR2 gene sequence analysis performed with a preliminary diagnosis of AMH receptor resistance revealed a previously unreported homozygous c.24G>A (p.W8X) mutation. The patient was assessed as a case of AMH receptor resistance. Orchiopexy was performed.
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Criptorquidismo/cirugía , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Orquidopexia/métodos , Testículo/anomalías , Criptorquidismo/diagnóstico , Criptorquidismo/genética , Trastorno del Desarrollo Sexual 46,XY/genética , Trastorno del Desarrollo Sexual 46,XY/cirugía , Humanos , Lactante , Masculino , Mutación , Receptores de Péptidos/genética , Receptores de Factores de Crecimiento Transformadores beta/genética , Testículo/cirugíaRESUMEN
BACKGROUND: The clinical, laboratory, genetic properties and final height of a large cohort of patients with nonclassical 21-hydroxylase deficiency (NC21OHD) in Turkey were analyzed. METHODS: This multicenter, nationwide web-based study collected data. RESULTS: The mean age was 9.79±4.35 years (229 girls, 29 boys). The most common symptoms were premature pubarche (54.6%) and hirsutism (28.6%). The peak cortisol was found below 18 µg/dL in three (15.45%) patients. A mutation was detected in the CYP21A2 gene of 182 (87.5%) patients. The most common mutation was V281L. Final height in female patients who were diagnosed and treated before attaining final height or near final height was found to be shorter than the final height in female patients who were diagnosed after attaining final height or near final height. CONCLUSIONS: The final height of the patients who were treated during childhood was found to be shorter than the final height of patients during the adolescent period.
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Hiperplasia Suprarrenal Congénita/sangre , Hiperplasia Suprarrenal Congénita/genética , Estatura/genética , Hidrocortisona/sangre , Mutación , Esteroide 21-Hidroxilasa/genética , Adolescente , Hiperplasia Suprarrenal Congénita/patología , Estudios de Casos y Controles , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Lactante , Recién Nacido , Masculino , Pronóstico , Estudios Retrospectivos , TurquíaRESUMEN
The aim of this anti-Mullerian hormone (AMH) levels in prepubertal obese girls are a predictive marker for polycystic ovary syndrome (PCOS) and to investigate the relationship between insulin resistance and AMH. Sixty girls with premature pubarche or obesity and 20 healthy controls between the ages of 6-9 were enrolled. Of the patients, 22 (36.7%) were in the obese group (Group 1), 28 (46.7%) in the early pubarche group (Group 2) and 10 (16.6%) in the early pubarche + obese group (Group 3). Comparison of the subjects' fasting insulin and homeostatic model assessment insulin resistance (HOMA-IR) demonstrated significantly higher values for group 1 compared to group 2 (p=0.001 and 0.001) and, likewise, significantly higher values for group 3 compared to group 2. There was no significant differences between all groups for AMH levels. AMH levels were not significantly different in the obese girls compared to the other groups. There was also no relationship between AMH and insulin resistance in any of the groups. Further studies, however, are needed due the limited number of subjects in this study and in the absence of adequate relevant data.
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Hormona Antimülleriana/sangre , Resistencia a la Insulina/fisiología , Obesidad/complicaciones , Síndrome del Ovario Poliquístico/sangre , Adulto , Biomarcadores/sangre , Índice de Masa Corporal , Niño , Femenino , Humanos , Insulina/sangre , Síndrome del Ovario Poliquístico/complicacionesRESUMEN
OBJECTIVE: Disorders of sex development (DSD) are a group of congenital medical conditions that affect life as a whole. In this study, we aimed to reflect the experience of a multidisciplinary team in the clinical/psychiatric follow-up of a group of children and adolescents with DSD. METHODS: The study group consisted of 51 patients diagnosed with DSD. The Kiddie-Schedule for Affective Disorders and Schizophrenia, Wechsler Intelligence Scale for Children-Revised, Draw a Person Test and Children's Apperception Test, and the Clinical Global Impression Scale (CGIS) were used for psychiatric evaluations. RESULTS: The mean age of the patients was 7.8 years (median: 7.8; min: 1.0; max: 18.0). Genetic evaluation showed 46,XX configuration in 15 patients (29.4%) and 46,XY in 35 (68.6%). One patient (2.0%) was diagnosed to have a sex chromosome disorder. Forty patients (78.4%) had no problems with their given gender identity and gender role. Thirty-four (66.7%) patients had normal intellectual capacity. Twenty-eight (54.9%) patients did not have any psychiatric problem. Depression, anxiety disorders, attention deficit/hyperactivity disorder, and adjustment disorders were the common diagnoses. The mean score of symptom severity on CGIS-severity-baseline was 6.15±0.68 and after one year, it was 1.46±0.51 (Z=-3.236 p=0.001). The mean score of CGI-Improvement was 1.23±0.44. CONCLUSION: It is important to identify and treat the psychiatric disorders encountered in patients with DSD. A psychiatrist needs to be included in the professional team following these patients. Examination and observation results need to be shared by holding periodic team meetings to establish a wholesome point of view for every unique child.