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Introduction: The mRNA-based BNT162b2 (Pfizer-BioNTech) vaccine has been shown to elicit robust systemic immune response and confer substantial protection against the severe coronavirus disease (COVID-19), with a favorable safety profile in adolescents. However, no data exist regarding immunogenicity, reactogenicity and clinical outcomes of COVID-19 vaccines in adolescents with type 1 diabetes (T1D). In this prospective observational cohort study, we examined the humoral immune responses and side effects induced by the BNT162b2 vaccine, as well as, the rate and symptomatology of laboratory-confirmed COVID-19 vaccine breakthrough infections after completion of dual-dose BNT162b2 vaccination in adolescents with T1D and compared their data with those of healthy control adolescents. The new data obtained after the vaccination of adolescents with T1D could guide their further COVID-19 vaccination schedule. Methods: A total of 132 adolescents with T1D and 71 controls were enrolled in the study, of whom 81 COVID-19 infection-naive adolescents with T1D (patient group) and 40 COVID-19 infection-naive controls (control group) were eligible for the final analysis. The response of participants to the BNT162b2 vaccine was assessed by measuring their serum IgG antibodies to the spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), 4-6 weeks after the receipt of first and second vaccine doses. Data about the adverse events of the vaccine was collected after the receipt of each vaccine dose. The rate of COVID-19 vaccine breakthrough infections was evaluated in the 6-month period following second vaccination. Results: After vaccinations, adolescents with T1D and controls exhibited similar, highly robust increments in anti-SARS-CoV-2 IgG titers. All the participants in the patient and control groups developed anti-SARS-CoV-2 IgG titers over 1,050â AU/ml after the second vaccine dose which is associated with a neutralizing effect. None of the participants experienced severe adverse events. The rate of breakthrough infections in the patient group was similar to that in the control group. Clinical symptomatology was mild in all cases. Conclusion: Our findings suggest that two-dose BNT162b2 vaccine administered to adolescents with T1D elicits robust humoral immune response, with a favorable safety profile and can provide protection against severe SARS-CoV-2 infection similar to that in healthy adolescents.
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OBJECTIVES: Diabetic cystopathy is a condition characterized by decreased bladder sensitivity, increased bladder capacity, decreased bladder contractility and increased residual urine volume. It can also be considered as an early indicator of autonomic dysfunction. In this study, it was aimed to evaluate bladder functions by uroflowmetry in children and adolescents with the diagnosis of type 1 diabetes mellitus. METHODS: Type 1 diabetes mellitus children and adolescents were applied uroflowmetry and post-void residual urine volumes were evaluated. The physical examination findings of the patients and the laboratory data of diabetes control were obtained from the clinic files. RESULTS: A total of 51 cases aged 72-216 (155.6 ± 35.4) months were enrolled into the study. Diabetes age of the cases was 66.5 ± 46.2(13-180) months. The last one year average of HbA1c of the patients was found to be 9.7 ± 1.9%. A total of 9.8% had good, 39.2% moderate and 51% poor metabolic control, respectively. While urodynamic evaluation was normal in 36 (70.6%) of 51 participants, voiding dysfunction was found in 15. There was no statistically significant difference between groups with and without voiding dysfunction in terms of age, gender, duration of diabetes, metabolic control and HbA1c values. CONCLUSIONS: It is very important to follow up patients with type 1 diabetes mellitus in terms of autonomic dysfunction. Diabetic bladder clinic, which can be observed independently of diabetes duration and metabolic control, is also included in this status. Urodynamic evaluation will be helpful both in demonstrating bladder dysfunction and in preventing possible complications.
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Enfermedades del Sistema Nervioso Autónomo , Diabetes Mellitus Tipo 1 , Enfermedades Urológicas , Humanos , Niño , Adolescente , Diabetes Mellitus Tipo 1/complicaciones , Vejiga Urinaria , PoliuriaRESUMEN
OBJECTIVE: Children with thalassemia major (TM) are prone to growth failure and micronutrient deficiency. Thus, this study aimed to evaluate nutritional status, anthropometrics, and bone mineralization defects in patients with regular blood transfusion. METHODS: Data obtained were analyzed by evaluating laboratory tests, anthropometric measures, and bone mineral density. RESULTS: This study included 29 patients (62% male and 38% female) with a mean age of 12.26±4.74 years, mean pre-transfusion hemoglobin of 8.64±1.01 g/dL, and mean serum ferritin of 1158.6±556.8 ng/ mL. Vitamin D (72.4%), selenium (72.4%), and folate (37.9%) deficiencies were most frequent. Hypocalcemia was observed in 17.2%, hypomagnesemia in 3.5%, and decreased ceruloplasmin in 10.3% of patients. Folate was higher between 2 and 6 years old (p=0.028). Ceruloplasmin was higher between 6 and 10 years old (p=0.018). Selenium was significantly higher in patients with a ferritin of ≥1,500 (p=0.008). No significant ferritin-related differences were found in other micronutrients (p>0.05). Body mass index (BMI) were <5 percentile (p) in 31% of patient, whereas none was >95 p. Height in 24.5% and weight in 20.7% of patients were <3 p, whereas none with >97 p. BMI of patients aged 10-18 years was significantly higher (p=0.001). Anthropometric percentiles did not significantly differ in the mean serum ferritin and micronutrient levels. Hypoparathyroidism was observed in 13.8% and hypothyroidism in 3.5% of patients. Low bone density was detected in 14.8% (2 osteopenic and 2 osteoporotic) of patients. Bone mineral density did not significantly differ in the ferritin and micronutrient levels. CONCLUSIONS: Nutritional support and deficiency prevention are important to minimize the burden of complications and increase the life expectancy and quality in patients with TM.
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Obesity in children appears to be associated with increased risk of cardiovascular and metabolic diseases later in life. Early development of insulin resistance (IR) may lead to endothelial dysfunction and increased carotid intima-media thickness (cIMT) even in childhood. We compared endothelial cell-specific molecule-1 (endocan) levels in pediatric obese patients with those in healthy controls to determine whether endocan could be used as a biological marker of complications caused by endothelial damage. In 80 obese pubertal children (44 males [M] and 36 females [F], mean age: 12.8 ± 2.5 years), anthropometric measurements, cIMT, endocan levels, and IR indices (homeostasis model assessment of insulin resistance [HOMA-IR]) were evaluated and compared with 80 healthy pubertal patients (42M/38F, mean age: 12.3 ± 3.2 years). High-resolution ultrasound was used to measure the cIMT. Obese children had higher levels of endocan compared with the controls (P < .001). Fasting insulin levels and HOMA-IR were also higher in obese children (P < .001 for both). In addition, obese children had an increased cIMT (P < .001). In obese children, there was a significant correlation between cIMT and HOMA-IR (ß = -1.314, P = .002) and between cIMT and endocan (ß = .483, P = .004). Measuring cIMT and endocan levels (noninvasive investigations) in obese children, together with early preventive measures, could significantly decrease morbidity and mortality in adulthood.
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Grosor Intima-Media Carotídeo , Proteínas de Neoplasias/sangre , Obesidad Infantil/sangre , Obesidad Infantil/diagnóstico por imagen , Proteoglicanos/sangre , Adolescente , Biomarcadores , Arterias Carótidas/diagnóstico por imagen , Estudios de Casos y Controles , Niño , Femenino , Humanos , Masculino , Obesidad Infantil/complicaciones , Factores de RiesgoRESUMEN
PURPOSE: Idiopathic hypogonadotropic hypogonadism (IHH) is characterized by absent puberty and subsequent infertility due to gonadotropin-releasing hormone (GnRH) deficiency. IHH can be accompanied by normal or compromised olfaction (Kallmann syndrome). Several semaphorins are known potent modulators of GnRH, olfactory, and vomeronasal system development. In this study, we investigated the role of Semaphorin-3F signaling in the etiology of IHH. METHODS: We screened 216 IHH patients by exome sequencing. We transiently transfected HEK293T cells with plasmids encoding wild type (WT) or corresponding variants to investigate the functional consequences. We performed fluorescent IHC to assess SEMA3F and PLXNA3 expression both in the nasal region and at the nasal/forebrain junction during the early human fetal development. RESULTS: We identified ten rare missense variants in SEMA3F and PLXNA3 in 15 patients from 11 independent families. Most of these variants were predicted to be deleterious by functional assays. SEMA3F and PLXNA3 are both expressed along the olfactory nerve and intracranial projection of the vomeronasal nerve/terminal nerve. PLXNA1-A3 are expressed in the early migratory GnRH neurons. CONCLUSION: SEMA3F signaling through PLXNA1-A3 is involved in the guidance of GnRH neurons and of olfactory and vomeronasal nerve fibers in humans. Overall, our findings suggest that Semaphorin-3F signaling insufficiency contributes to the pathogenesis of IHH.
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Hipogonadismo , Semaforinas , Moléculas de Adhesión Celular , Células HEK293 , Humanos , Hipogonadismo/genética , Proteínas de la Membrana , Proteínas del Tejido Nervioso/genética , Receptores de Superficie CelularRESUMEN
Abstract Objective: The prevalence of non-alcoholic fatty liver disease in children has risen significantly, owing to the worldwide childhood obesity epidemic in the last two decades. Non-alcoholic fatty liver disease is closely linked to sedentary lifestyle, increased body mass index, and visceral adiposity. In addition, individual genetic variations also have a role in the development and progression of non-alcoholic fatty liver disease. The aim of this study was to investigate the gene polymorphisms of MCP-1 (-2518 A/G) (rs1024611), CCR-2 (190 G/A) (rs1799864), ABCA1 (883 G/A) (rs4149313), and IL-17A (-197 G/A) (rs2275913) in obese Turkish children with non-alcoholic fatty liver disease. Methods: The study recruited 186 obese children aged 10 -17 years, including 101 children with non-alcoholic fatty liver disease and 85 children without non-alcoholic fatty liver disease. Anthropometric measurements, insulin resistance, a liver panel, a lipid profile, liver ultrasound examination, and genotyping of the four variants were performed. Results: No difference was found between the groups in respect to age and gender, body mass index, waist/hip ratio, or body fat ratio. In addition to the elevated ALT levels, AST and GGT levels were found significantly higher in the non-alcoholic fatty liver disease group compared to the non non-alcoholic fatty liver disease group (p < 0.05). The A-allele of IL-17A (-197 G/A) (rs2275913) was associated with non-alcoholic fatty liver disease (odds ratio [OR] 2.05, 95% confidence interval: 1.12 -3.77, p = 0.02). Conclusions: The findings of this study suggest that there may be an association between IL-17A (-197 G/A) (rs2275913) polymorphism and non-alcoholic fatty liver disease development in obese Turkish children.
Resumo Objetivo: A prevalência de doença hepática gordurosa não alcoólica em crianças aumentou significativamente devido à epidemia de obesidade infantil em todo o mundo nas últimas duas décadas. A doença hepática gordurosa não alcoólica está intimamente ligada ao estilo de vida sedentário, ao aumento do índice de massa corporal e à adiposidade visceral. Além disso, variações genéticas individuais também têm um papel no desenvolvimento e na progressão da doença hepática gordurosa não alcoólica. O objetivo deste estudo foi investigar os polimorfismos genéticos MCP-1 (-2518 A/G) (rs1024611), CCR-2 (190 G/A) (rs1799864), ABCA1 (883 G/A) (rs4149313) e IL-17A (-197 G/A) (rs2275913) em crianças turcas obesas com doença hepática gordurosa não alcoólica. Métodos: O estudo recrutou 186 crianças obesas entre 10 e 17 anos, inclusive 101 crianças com doença hepática gordurosa não alcoólica e 85 crianças sem doença hepática gordurosa não alcoólica. Medidas antropométricas, resistência à insulina, painel hepático, perfil lipídico, exame ultrassonográfico do fígado e genotipagem de quatro variantes foram feitos. Resultados: Nenhuma diferença foi encontrada entre os grupos em relação à idade e sexo, índice de massa corporal, relação cintura/quadril ou proporção de gordura corporal. Além dos níveis elevados de ALT, os níveis de AST e GGT foram significativamente maiores no grupo doença hepática gordurosa não alcoólica em comparação com o grupo não doença hepática gordurosa não alcoólica (p < 0,05). O alelo A de IL-17A (-197 G/A) (rs2275913) foi associado à doença hepática gordurosa não alcoólica (odds ratio [OR] 2,05, intervalo de confiança de 95%: 1,12-3,77, p = 0,02). Conclusões: Os achados deste estudo sugerem que pode haver uma associação entre o polimorfismo IL-17A (-197 G/A) (rs2275913) e o desenvolvimento da doença hepática gordurosa não alcoólica em crianças turcas obesas.
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Humanos , Masculino , Femenino , Niño , Adolescente , Polimorfismo Genético/genética , Obesidad Infantil/complicaciones , Enfermedad del Hígado Graso no Alcohólico/genética , Índice de Masa Corporal , Quimiocina CCL2/genética , Predisposición Genética a la Enfermedad , Interleucina-17/genética , Receptores CCR2/genética , Transportador 1 de Casete de Unión a ATP/genética , Enfermedad del Hígado Graso no Alcohólico/complicaciones , GenotipoRESUMEN
OBJECTIVE: The prevalence of non-alcoholic fatty liver disease in children has risen significantly, owing to the worldwide childhood obesity epidemic in the last two decades. Non-alcoholic fatty liver disease is closely linked to sedentary lifestyle, increased body mass index, and visceral adiposity. In addition, individual genetic variations also have a role in the development and progression of non-alcoholic fatty liver disease. The aim of this study was to investigate the gene polymorphisms of MCP-1 (-2518 A/G) (rs1024611), CCR-2 (190 G/A) (rs1799864), ABCA1 (883 G/A) (rs4149313), and IL-17A (-197 G/A) (rs2275913) in obese Turkish children with non-alcoholic fatty liver disease. METHODS: The study recruited 186 obese children aged 10-17 years, including 101 children with non-alcoholic fatty liver disease and 85 children without non-alcoholic fatty liver disease. Anthropometric measurements, insulin resistance, a liver panel, a lipid profile, liver ultrasound examination, and genotyping of the four variants were performed. RESULTS: No difference was found between the groups in respect to age and gender, body mass index, waist/hip ratio, or body fat ratio. In addition to the elevated ALT levels, AST and GGT levels were found significantly higher in the non-alcoholic fatty liver disease group compared to the non non-alcoholic fatty liver disease group (p<0.05). The A-allele of IL-17A (-197 G/A) (rs2275913) was associated with non-alcoholic fatty liver disease (odds ratio [OR] 2.05, 95% confidence interval: 1.12-3.77, p=0.02). CONCLUSIONS: The findings of this study suggest that there may be an association between IL-17A (-197 G/A) (rs2275913) polymorphism and non-alcoholic fatty liver disease development in obese Turkish children.
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Enfermedad del Hígado Graso no Alcohólico/genética , Obesidad Infantil/complicaciones , Polimorfismo Genético/genética , Transportador 1 de Casete de Unión a ATP/genética , Adolescente , Índice de Masa Corporal , Quimiocina CCL2/genética , Niño , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Interleucina-17/genética , Masculino , Enfermedad del Hígado Graso no Alcohólico/complicaciones , Receptores CCR2/genéticaRESUMEN
OBJECTIVES: To investigate the utility of shear wave elastography (SWE) in detecting morphologic abnormalities of the median nerve and posterior tibial nerve in transverse and longitudinal axes in adolescents with type 1 diabetes mellitus (DM) without diabetic peripheral neuropathy (DPN). METHODS: The median nerves and posterior tibial nerves of 25 adolescents with diagnosis and follow-up of type 1 DM without DPN and 32 healthy volunteers were evaluated with SWE by 2 observers on the transverse and longitudinal axes. The cross-sectional area and thickness of the nerves and disease duration were noted, and probable associations of these parameters with SWE features were analyzed. Interobserver and intraobserver correlations were also examined. The statistical significance level was set at P < .05. RESULTS: Both the median nerve and posterior tibial nerve were smaller, thinner, and stiffer in the patient group for both observers on both axes. The disease duration weakly correlated with median nerve SWE features (r = 0.245-0391). The thickness and cross-sectional area had no correlations with SWE features. CONCLUSIONS: The median nerve and posterior tibial nerve in adolescents with type 1 DM without DPN have morphologic abnormalities that can be displayed by SWE regardless of the imaging axis. Shear wave elastography may have a potential role in subclinical DPN, but the reliability of the findings is not as high as desirable.
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Diabetes Mellitus Tipo 1/fisiopatología , Diagnóstico por Imagen de Elasticidad/métodos , Nervio Mediano/diagnóstico por imagen , Nervios Periféricos/diagnóstico por imagen , Nervios Periféricos/fisiopatología , Nervio Tibial/diagnóstico por imagen , Adolescente , Adulto , Niño , Neuropatías Diabéticas , Femenino , Humanos , Masculino , Nervio Mediano/fisiopatología , Reproducibilidad de los Resultados , Nervio Tibial/fisiopatología , Adulto JovenRESUMEN
Background/aim: Various studies have shown that adult patients with polycystic ovary syndrome (PCOS) have higher levels of anxiety and depression compared to their normal counterparts. However, it is still unclear whether these mood disorders already exist in adolescents affected by PCOS. The aim of the present study is to assess differences in anxiety and depression levels between adolescents with PCOS and age- and body mass index (BMI)-matched controls and to determine the possible factor(s) impacting these psychological parameters in adolescents with PCOS. Materials and methods: The study included 80 adolescents with PCOS and 50 age- and BMI-matched controls. All participants completed standardized questionnaires assessing anxiety and depression. A multiple linear regression model was used to analyze the impact of potential variables on anxiety and depression scores of the adolescents with PCOS. Results: Significantly higher levels of anxiety, specifically generalized and social anxieties, as well as depression were found in adolescents with PCOS compared to controls. Higher BMI was found to be associated with higher levels of depression and generalized anxiety, and higher modified Ferriman-Gallwey score with higher level of panic disorder in adolescents affected by PCOS. Conclusion: Adolescents with PCOS experience significantly more emotional distress compared to adolescents without PCOS. This emotional distress may be related, at least in part, to certain clinical features of PCOS including obesity and hirsutism. PCOS in adolescents should be assessed not only for the gynecological and metabolic aspects but also for the emotional aspects of the disease.
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Abstract Objective Several studies have been performed concerning pathologies of the stomach and esophagus in the pediatric age group. However, there have been very few studies of duodenal pathologies in children. The authors aimed to examine the clinical, endoscopic, and histopathological characteristics, as well as the etiology of duodenal pathologies in children. Method Patients aged between 1 and 17 years undergoing esophagogastroduodenoscopy during two years at this unit, were investigated retrospectively. Demographic, clinical, endoscopic data, and the presence of duodenal pathologies, gastritis, and esophagitis were recorded in all of the children. Results Out of 747 children who underwent endoscopy, duodenal pathology was observed in 226 (30.3%) patients. Pathology was also present in the esophagus in 31.6% of patients and in the stomach in 58.4%. The level of chronic diarrhea was higher in patients with duodenal pathology when compared with those without duodenal pathology (p = 0.002, OR: 3.91, 95% CI: 1.59-9.57). Helicobacter pylori infection was more common in patients with pathology in the duodenum (59.3%). Conclusion Duodenal pathology was detected in 30.3% of the present patients. A significantly higher level of chronic diarrhea was observed in subjects with duodenal pathologies compared to those with no such pathology. The rate of Helicobacter pylori infection was considerably higher than that in previous studies. In addition, there is a weak correlation between endoscopic appearance and histology of duodenitis.
Resumo Objetivo Foram feitos vários estudos com relação a patologias do estômago e esôfago na faixa etária pediátrica. Contudo, poucos estudos das patologias duodenais em crianças. Visamos a examinar as características clínicas, endoscópicas e histopatológicas, juntamente com a etiologia, das patologias duodenais em crianças. Método Foram investigados retrospectivamente pacientes entre 1 e 17 anos submetidos a esofagogastroduodenoscopia durante dois anos em nossa unidade. Os dados demográficos, clínicos e endoscópicos e a presença de patologias duodenais, gastrite e esofagite foram registrados com relação a todas as crianças. Resultados Das 747 crianças submetidas a endoscopia, 226 (30,3%) apresentaram patologia duodenal. A patologia também esteve presente no esôfago de 31,6% dos pacientes e no estômago de 58,4%. O nível de diarreia crônica foi maior nos pacientes com patologia duodenal, em comparação com os pacientes sem patologia duodenal (p = 0,002, RC: 3,91, IC de 95%: 1,59-9,57). Infecção por Helicobacter pylori foi mais comum em pacientes com patologia no duodeno (59,3%). Conclusão Foi detectada patologia duodenal em 30,3% de nossos pacientes. Um nível significativamente maior de diarreia crônica foi observado em indivíduos com patologias duodenais, em comparação aos sem patologia. A infecção por Helicobacter pylori esteve presente consideravelmente maior do que em estudos anteriores. Além disso, há uma fraca correlação entre a imagem endoscópica e a histologia de duodenite.
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Humanos , Masculino , Femenino , Lactante , Preescolar , Niño , Adolescente , Infecciones por Helicobacter/diagnóstico , Enfermedades Duodenales/diagnóstico , Biopsia , Estudios Retrospectivos , Endoscopía del Sistema Digestivo , Helicobacter pylori/aislamiento & purificación , Enfermedades Duodenales/clasificación , Enfermedades Duodenales/microbiologíaRESUMEN
INTRODUCTION: Chronic abdominal pain (CAP) is one of the most common indications of esophagogastroduodenoscopy (EGD) in the pediatric population. However, there is not enough information about the diagnostic yield of EGD in children with CAP. We aimed to evaluate the diagnostic yield of EGD in children with CAP in the Eastern Black Sea region of Turkey. MATERIAL AND METHODS: The study included children (n = 372) who underwent EGD for the primary indication of chronic abdominal pain during an 18-month period. We collected data on demographic features (age, sex), clinical characteristics (alarm symptoms), and EGD results for each patient. RESULTS: Patients' mean age was 13 years (range: 4-17 years; mean ± SD: 12.65 ±3.39 years), and the majority were female (n = 234, 62.9%). Endoscopy was diagnostic in 209 patients (56.2%; 95% CI: 30.35-40.05%). The most common diagnosis was Helicobacter pylori gastritis (35.2%) followed by reflux esophagitis. Significantly greater diagnostic yield of EGD was determined in patients with alarm symptoms (65.1%) compared to those without (45.2%) (OR = 2.26, 95% CI: 1.49-3.44, p = 0.001). CONCLUSIONS: We determined a high diagnostic yield of EGD in children with CAP. Although the diagnostic yield of EGD in the assessment of CAP was found to be higher in the presence of alarm symptoms, a significant number of children without alarm symptoms were also found to have gastrointestinal system pathology diagnosed by EGD.
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OBJECTIVE: Several studies have been performed concerning pathologies of the stomach and esophagus in the pediatric age group. However, there have been very few studies of duodenal pathologies in children. The authors aimed to examine the clinical, endoscopic, and histopathological characteristics, as well as the etiology of duodenal pathologies in children. METHOD: Patients aged between 1 and 17 years undergoing esophagogastroduodenoscopy during two years at this unit, were investigated retrospectively. Demographic, clinical, endoscopic data, and the presence of duodenal pathologies, gastritis, and esophagitis were recorded in all of the children. RESULTS: Out of 747 children who underwent endoscopy, duodenal pathology was observed in 226 (30.3%) patients. Pathology was also present in the esophagus in 31.6% of patients and in the stomach in 58.4%. The level of chronic diarrhea was higher in patients with duodenal pathology when compared with those without duodenal pathology (p=0.002, OR: 3.91, 95% CI: 1.59-9.57). Helicobacter pylori infection was more common in patients with pathology in the duodenum (59.3%). CONCLUSION: Duodenal pathology was detected in 30.3% of the present patients. A significantly higher level of chronic diarrhea was observed in subjects with duodenal pathologies compared to those with no such pathology. The rate of Helicobacter pylori infection was considerably higher than that in previous studies. In addition, there is a weak correlation between endoscopic appearance and histology of duodenitis.
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Enfermedades Duodenales/diagnóstico , Infecciones por Helicobacter/diagnóstico , Adolescente , Biopsia , Niño , Preescolar , Enfermedades Duodenales/clasificación , Enfermedades Duodenales/microbiología , Endoscopía del Sistema Digestivo , Femenino , Helicobacter pylori/aislamiento & purificación , Humanos , Lactante , Masculino , Estudios RetrospectivosRESUMEN
OBJECTIVE: To evaluate neural and vascular retinal morphology of children with isolated growth hormone deficiency (GHD) and to determine any retinal changes due to GH treatment. METHODS: Twenty-eight children with isolated GHD and 53 age-, gender- and body mass index-matched healthy volunteers were enrolled in this prospective study. The retinal nerve fibre layer (RNFL) and macular thickness (MT) were measured, as well as intraocular pressure (IOP). The number of retinal vascular branching points were calculated. Effect of GH treatment on the retina and IOP was evaluated after one year of treatment. Measurements were also made in the control group at baseline and following the initial examination. Pre- and post-treatment changes were compared. The findings were also compared with those of the controls. The correlation between ocular dimensions and insulin-like growth factor-I (IGF-1) levels were also analysed. RESULTS: The number of branching points was significantly lower in GHD patients as compared with control subjects (15.11±2.67 and 19.70±3.37, respectively, p=0.05 for all comparisons). No statistically significant differences were found in mean RNFL, MT and IOP values between GHD patients and control subjects. GH treatment did not create any significant changes in the retinal vascularization or other retinal neural parameters and IOP either within the patient group or when compared with the control group. No correlations were observed between ocular dimensions and IGF-1 levels. CONCLUSION: Our findings suggest that isolated GHD may lead to decreased retinal vascularization. However, retinal neural growth and differentiation were not affected by GHD. These findings may be related to the fetal development process of pituitary somatotropic cells and the retina. Additionally, GH treatment did not cause any changes in retinal neural and vascular tissues.
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Enanismo Hipofisario/patología , Hormona de Crecimiento Humana/farmacología , Factor I del Crecimiento Similar a la Insulina/análisis , Presión Intraocular/fisiología , Mácula Lútea/diagnóstico por imagen , Neuronas Retinianas/ultraestructura , Vasos Retinianos/diagnóstico por imagen , Adolescente , Niño , Enanismo Hipofisario/diagnóstico por imagen , Enanismo Hipofisario/tratamiento farmacológico , Femenino , Hormona de Crecimiento Humana/administración & dosificación , Humanos , Presión Intraocular/efectos de los fármacos , Mácula Lútea/efectos de los fármacos , Masculino , Estudios Prospectivos , Neuronas Retinianas/efectos de los fármacos , Vasos Retinianos/efectos de los fármacos , Resultado del TratamientoRESUMEN
OBJECTIVE: The aim of the present study was to document ovarian cyst frequency and characteristics as well as distribution of these parameters with respect to age in children and adolescents. METHODS: We retrospectively analyzed the medical records of 1009 girls between the ages of 5-18 years who presented to our pediatric emergency department (PED) with pelvic pain and therefore underwent pelvic ultrasound examination between June 2011 and May 2014. RESULTS: In total, 132 of 1009 girls (13.1%) were identified as having ovarian cysts ≥1 cm in diameter. The frequency of ovarian cysts was found to be 1.8% (6/337) in children aged 5-9 years and 18.8% (126/672) in those aged 10-18 years. All the cysts detected in children aged 5-9 years were small (<3 cm) and simple with age-specific frequencies ranging between 1.5-2.7%. With the onset of adolescence, ovarian cyst frequency started to increase with age and ranged between 3.8-31.3% throughout adolescence. Age of peak ovarian cyst frequency was 15 years with a rate of 31.3%. Large ovarian cysts (>5 cm) were identified in 19 adolescents (15.1%) with most occurring during middle adolescence. Of the 19 adolescents, five were found to have cyst-related significant ovarian pathologies including cystadenoma (n=3) and ovarian torsion (n=2). CONCLUSION: In children aged 5-9 years, ovarian cysts were infrequent and small (<3 cm). Peak ovarian cyst frequency was detected at the age of 15 years. All patients diagnosed with cyst-related significant ovarian pathologies were adolescents having a cyst >5 cm in diameter with a complex appearance in most.
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Quistes Ováricos/diagnóstico por imagen , Ovario/patología , Pelvis/diagnóstico por imagen , Ultrasonografía/métodos , Adolescente , Factores de Edad , Niño , Preescolar , Femenino , HumanosRESUMEN
BACKGROUND: The aim of this study was to investigate the early signs of atherosclerosis and to evaluate serum endoglin and obestatin levels as predictors of subclinical atherosclerosis in obese children. METHODS: A total of 95 children (60 obese and 35 controls) aged 10-18 years were included in the study. Their endoglin and obestatin levels and biochemical parameters were measured. The carotid intima media thickness (cIMT) and brachial artery flow-mediated dilatation (FMD) responses were evaluated. RESULTS: The cIMT values were higher (p < 0.001) and FMD responses were lower (p = 0.003) in the obese group than in the control group. A logistic regression multivariate analysis revealed that cIMT was independently associated with the body mass index (BMI) Z-score (ß = 0.323, p = 0.003) and low density lipoprotein (LDL) (ß = 0.29, p = 0.008), while FMD % was independently associated with waist circumference (ß = -0.36, p = 0.002). The obese and control groups were similar in endoglin (p = 0.67) and obestatin levels (p = 0.70). The endoglin level was inversely correlated with the cholesterol and LDL levels (r = -0.23, p = 0.032; rho = -0.25, p = 0.019). CONCLUSIONS: The cIMT and brachial artery FMD response in obese children are significantly different compared to healthy controls. Circulating endoglin and obestatin levels are not predictive markers for subclinical atherosclerosis in obese children aged 10-18 years old.
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Aterosclerosis/fisiopatología , Biomarcadores/sangre , Enfermedades Cardiovasculares/fisiopatología , Endoglina/sangre , Enfermedades Metabólicas/fisiopatología , Obesidad/complicaciones , Adolescente , Aterosclerosis/sangre , Índice de Masa Corporal , Enfermedades Cardiovasculares/sangre , Grosor Intima-Media Carotídeo , Estudios de Casos y Controles , Niño , Femenino , Ghrelina/sangre , Humanos , Insulina/sangre , Masculino , Enfermedades Metabólicas/sangre , Factores de Riesgo , Transducción de Señal , Ultrasonografía Doppler , Circunferencia de la CinturaRESUMEN
OBJECTIVE: Soluble endoglin (S-endoglin) has been implicated as a potential marker of endothelial dysfunction (ED) and was reported to be elevated in diabetic adults, correlating with the severity of diabetic vasculopathy. However, circulating S-endoglin and its association with other markers of ED have not been formerly analyzed in the first decade of diabetes onset in adolescents with type 1 diabetes mellitus (T1DM). METHODS: Fifty-eight adolescents with moderately/poorly controlled T1DM were included in this study and twenty-nine healthy adolescents served as controls. The diabetic group was divided into two groups based on the presence of microalbuminuria, as the microalbuminuria group (n=15) and the normoalbuminuria group (n=43). Functional vascular alterations were evaluated by measuring serum S-endoglin and plasma nitric oxide (NO) concentrations, the flow-mediated dilatation (FMD) of the brachial artery. Carotid intima media thickness (CIMT) was measured for evaluation of structural vascular alterations. RESULTS: The S-endoglin and NO levels of both microalbuminuria and normoalbuminuria groups were higher than those of the control group (for S-endoglin, p=0.047 and p<0.001; for NO, p=0.004 and p=0.006, respectively). The FMD percent was lower in the microalbuminuria group compared to the normoalbuminuria and control groups (p=0.036 and p=0.020, respectively). There were negative correlations between S-endoglin concentration and FMD percent (r=-0.213, p=0.051) and between serum S-endoglin concentration and albumin excretion rate (r=-0.361, p=0.005). No significant differences were found in CIMT among any of the groups (p=0.443). CONCLUSION: In adolescents with T1DM, S-endoglin concentrations might increase in parallel to the deterioration in endothelial function before subclinical structural vascular alterations become evident.
Asunto(s)
Grosor Intima-Media Carotídeo , Diabetes Mellitus Tipo 1/complicaciones , Angiopatías Diabéticas/sangre , Endoglina/sangre , Adolescente , Albuminuria/complicaciones , Análisis de Varianza , Biomarcadores/sangre , Velocidad del Flujo Sanguíneo , Arteria Braquial/patología , Arteria Braquial/fisiopatología , Estudios Transversales , Angiopatías Diabéticas/diagnóstico , Angiopatías Diabéticas/etiología , Dilatación Patológica , Endotelio Vascular/fisiopatología , Femenino , Humanos , Masculino , Óxido Nítrico/sangre , SolubilidadRESUMEN
The variable presence of adrenal insufficiency (AI) due to hypocortisolemia (HC) in patients with thalassemia is well established; however, the prevalence of adrenocortical hypofunction (ACH) in the zona glomerulosa and zona reticularis of the adrenal cortex is unknown. To establish the prevalence of ACH, we examined the cortisol response to 1-µg and 250-µg ACTH tests, plasma aldosterone (A)/plasma renin activity (PRA) ratio, and serum dehydroepiandrosterone sulfate (DHEAS) levels in a large cohort of patients with thalassemia, and to investigate the impact of total body iron load (TBIL) on adrenocortical function. The setting used was University hospital and government-based tertiary care center. One hundred twenty-one (52 females) patients with ß-thalassemia major (ß-TM) and 72 healthy peers (38 females) were enrolled. The patients underwent a 250-µg cosyntropin test if their peak cortisol was <500 nmol/L in a 1-µg cosyntropin test. Magnetic resonance imaging (MRI) was performed to assess the MRI-based liver iron content and cardiac MRI T2* iron. The associations between ACH and TBIL were investigated. The patients with thalassemia had lower ACTH, cortisol, DHEAS, and A/PRA values compared with the controls (p < 0.001). Thirty-nine patients (32.2 %) had HC [primary (n = 1), central (n = 36), combined (n = 2)], and 47 (38.8 %) patients had reduced DHEAS levels; 29 (24.0 %) patients had reduced A/PRA ratios. Forty-six (38.0 %) patients had hypofunction in one of the adrenal zones, 26 (21.5 %) had hypofunction in two adrenal zones, and 9 (7.4 %) had hypofunction in all three zones. Patient age and TBIL surrogates were significant independent parameters associated with ACH. Cardiac MRI T2* iron was the only significant parameter that predicted the severity of ACH at a cut-off of 20.6 ms, with 81 % sensitivity and 78 % specificity. Patients with thalassemia have a high prevalence of AI due to HC and zona glomerulosa and zona reticularis hypofunction. TBIL surrogates can predict ACH, but cardiac iron was the only surrogate that was adequately sensitive to predict the severity of ACH.
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Insuficiencia Suprarrenal/sangre , Aldosterona/sangre , Sulfato de Deshidroepiandrosterona/sangre , Hidrocortisona/sangre , Hierro/sangre , Renina/sangre , Talasemia beta/sangre , Adolescente , Hormona Adrenocorticotrópica , Niño , Preescolar , Femenino , Humanos , MasculinoRESUMEN
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.
Asunto(s)
Cariotipo Anormal , Antropometría , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Recién Nacido , Fenotipo , Adulto JovenRESUMEN
OBJECTIVE: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls. This study aimed to systematically investigate the key clinical features of TS in relationship to karyotype in a large pediatric Turkish patient population. METHODS: Our retrospective study included 842 karyotype-proven TS patients aged 0-18 years who were evaluated in 35 different centers in Turkey in the years 2013-2014. RESULTS: The most common karyotype was 45,X (50.7%), followed by 45,X/46,XX (10.8%), 46,X,i(Xq) (10.1%) and 45,X/46,X,i(Xq) (9.5%). Mean age at diagnosis was 10.2±4.4 years. The most common presenting complaints were short stature and delayed puberty. Among patients diagnosed before age one year, the ratio of karyotype 45,X was significantly higher than that of other karyotype groups. Cardiac defects (bicuspid aortic valve, coarctation of the aorta and aortic stenosis) were the most common congenital anomalies, occurring in 25% of the TS cases. This was followed by urinary system anomalies (horseshoe kidney, double collector duct system and renal rotation) detected in 16.3%. Hashimoto's thyroiditis was found in 11.1% of patients, gastrointestinal abnormalities in 8.9%, ear nose and throat problems in 22.6%, dermatologic problems in 21.8% and osteoporosis in 15.3%. Learning difficulties and/or psychosocial problems were encountered in 39.1%. Insulin resistance and impaired fasting glucose were detected in 3.4% and 2.2%, respectively. Dyslipidemia prevalence was 11.4%. CONCLUSION: This comprehensive study systematically evaluated the largest group of karyotype-proven TS girls to date. The karyotype distribution, congenital anomaly and comorbidity profile closely parallel that from other countries and support the need for close medical surveillance of these complex patients throughout their lifespan.