RESUMO
OBJECTIVE: This study aimed to investigate the quality of life of patients with central precocious puberty (CPP) who required treatment and premature thelarche (PT) followed up without treatment and to compare the groups with and without treatment among themselves and with healthy children. DESIGN, PATIENTS AND MEASUREMENT: This study is designed as a case-control study. A total of 193 children including 59 children with CPP, 53 children with PT, 81 healthy children and their parents were included in the study. A questionnaire was applied to evaluate the sociodemographic characteristics that would affect the quality of life. The 'Pediatric Quality of Life Inventory (PedsQL)' was used to assess the quality of life. RESULTS: The PedsQL total scale score was 78.10 ± 17.13, 79.35 ± 11.54 and 79.52 ± 14.65, the psychosocial health summary score was 78.86 ± 16.83, 79.40 ± 12.54 and 79.94 ± 14.94 and physical health summary score was 75.81 ± 20.69, 79.41 ± 15.04 and 78.25 ± 17.52 in CPP, PT and control groups, respectively; however, there was no statistical difference (p > .05). In the scale administered to the parents, scores were similar in the three groups. No difference was found between CPP, PT and control groups in terms of sociodemographic data in the study (p > .05). CONCLUSION: Unlike previous studies, in this study the effects of sociodemographic characteristics and whether treatment was initiated or not on quality of life were investigated. Although the scale scores of the CPP group were lower than the PT and control group, there was no statistically significant difference, indicating that quality of life was not negatively affected in the CPP group receiving treatment.
Assuntos
Puberdade Precoce , Criança , Humanos , Qualidade de Vida , Estudos de Casos e Controles , Inquéritos e QuestionáriosRESUMO
OBJECTIVE: In patients with classical congenital adrenal hyperplasia (CAH), virilization affects the brain and external genitalia due to antenatal androgen exposure. There are few studies on how the effects of androgens on brain virilization are reflected in behavior. However, there is no study focused on the adolescence period. The aim of this study was to evaluate the level of aggression in adolescent girls with classical CAH (due to 21 hydroxylase and 11ß hydroxylase deficiency) and to investigate the disease-related factors that may affect aggression. DESIGN: Twenty female and 20 male patients aged 13-20 years, diagnosed with classical CAH, with 21 hydroxylase deficiency and 11ß hydroxylase deficiency, and 20 healthy girls and 20 boys from the same age group were included. The Buss-Perry Aggression Scale (BPAS), which consists of four subgroups measuring physical aggression, verbal aggression, hostility, and angry behaviors, was used. RESULTS: The ages of the male and female patients with CAH were 16.30 ± 2.65 and 16.60 ± 2.41 years, respectively. Total aggression scale scores were 73.3 ± 14.6 in adolescent girls with CAH, 74.1 ± 11.2 in healthy girls, 71.5 ± 14.8 in boys with CAH, and 75.3 ± 14.5 in healthy boys (p > .05). There was no difference between the subscale scores of patients and healthy adolescents. Aggression scores in adolescents with CAH increased significantly with age. CONCLUSIONS: In this study, we found no difference between the aggression scores of adolescents with classical CAH compared to their healthy peers. The total aggression score and subscale were similar in unaffected female adolescents.
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Hiperplasia Suprarrenal Congênita , Humanos , Masculino , Feminino , Adolescente , Gravidez , Hiperplasia Suprarrenal Congênita/diagnóstico , Esteroide 21-Hidroxilase , Virilismo , Androgênios , AgressãoRESUMO
Adolescent obesity is a growing global health problem. Studies have demonstrated that exposure to food cues plays a role in both the development and the persistence of obesity. Understanding how visual attention changes dynamically in response to food cues may explain how they contribute to obesity. The primary aims were to evaluate attentional bias for food cues and conduct a time-course analysis of obese adolescents' food-cue processing. We also investigated the roles of inhibition, cognitive flexibility, and eating styles in their visual attention to food stimuli. A total of 60 age- and gender-matched 12-16-year-olds (n = 30, obese group; n = 30, control group; M = 13.9 years, SD = 1.26) were included in this study's sample. The participants viewed a series of high-calorie and low-calorie food images along with nonfood images in the free exploration paradigm during eye-tracking. Time-course analysis of the proportion of fixations on images of food and high-calorie foods determined that the attentional processing of the two groups differed, especially in later stages. The obese group had higher Stroop Interference and Trail Making Test-B scores than the control group, but these executive functions' scores did not affect their proportions of fixations on food and high-calorie food images over time. Higher Perceptual Reasoning Index scores led to a decrease in the proportions of fixations on high-calorie food images over time in the obese group, and this was particularly noticeable after about 4000 ms. This study found that time-course analysis of visual attention to food cues allows us to understand how it changes dynamically over larger time intervals. Future studies should provide knowledge about maintained attention for food cues and their relationship with top-down factors in obese adolescents.
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Sinais (Psicologia) , Obesidade Infantil , Adolescente , Ingestão de Energia , Tecnologia de Rastreamento Ocular , Alimentos , HumanosRESUMO
AIM: The incidence of congenital hypothyroidism (CH) has increased world-wide. Lowering cut-off in screening programs has led to an increase in the rate of transient CH. We aimed to evaluate the rates of permanent and transient CH in cases referred from the screening program and to investigate the clinical and laboratory factors which predict transient CH. METHODS: In 109 cases referred from the neonatal screening program to our hospital, from September 2015 to April 2018, 52 primarily diagnosed CH cases were prospectively evaluated. Regularly followed up, 44 CH cases were included in the study at the end of 3 years. RESULTS: 38.2 ± 1.31 weeks (w) and mean birthweight 3021.3 ± 389.6 gram (g) in the transient CH group; both were significantly lower compared to permanent CH cases with 39.06 ± 1.33 w and 3375.3 ± 425.3 g (P = 0.025, P = 0.007) respectively. Transient CH rate was found to be 50% (all hypoplastic) in the dysgenesis group and 73.3% in groups with normal and hyperplasic thyroid gland. While fT4 , thyroid-stimulating hormone, and thyroglobulin levels at diagnosis do not predict transient/permanent CH, levothyroxine (LT-4) dosage was significantly lower in the transient CH group in all years. The optimal cut-off value with highest sensitivity and specificity for LT-4 dosage as a predictive marker to differentiate transient CH from permanent CH was 2.27 µg/kg/day (P = 0.004; sensitivity: 71%, specificity: 83%) at 1st year, 1.85 µg /kg/day (P = 0.013; sensitivity: 66%, specificity: 72%) at 2nd year and 1.69 µg /kg/day at 3rd year (P < 0.0001; sensitivity: 90%, specificity: 83%). CONCLUSION: Transient CH is more frequent than expected. Our results suggest that LT-4 requirement may be a good marker for predicting transient CH, while thyroid hormone levels at the time of diagnosis do not significantly predict permanent and transient CH. Therefore, infants with CH requiring LT-4 doses <2.27 µg/kg/day at 1st year, <1.85 µg /kg/day at 2nd year may be re-evaluated earlier to discriminate transient CH rather than at 3 years of age.
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Hipotireoidismo Congênito , Doenças do Recém-Nascido , Biomarcadores , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/epidemiologia , Humanos , Lactente , Recém-Nascido , Triagem Neonatal/métodos , Tireotropina , Tiroxina/uso terapêuticoRESUMO
Wolfram syndrome (WS) is a heterogeneous multisystem neurodegenerative disorder with two allelic variations in addition to a separate subtype known as WS type 2. The wide phenotypic spectrum of WS includes diabetes mellitus and optic atrophy which is often accompanied by diabetes insipidus, deafness, urological and neurological complications in combination or in isolation. To date, the understanding of the genotype-phenotype relationship in this complex syndrome remains poorly understood. In this study, we identified and explored the functionality of rare and novel variants in the two causative WS genes WFS1 and CISD2 by assessing the effects of the mutations on the encoded proteins Wolframin and ERIS, in a cohort of 12 patients with autosomal recessive WS, dominant WS and WS type 2. The identified pathogenic variants included missense changes, frameshift deletions and insertions in WFS1 and an exonic deletion in CISD2 which all altered the respective encoded protein in a manner that did not correlate to the phenome previously described. These observations suggest the lack of genotype-phenotype correlation in this complex syndrome and the need to explore other molecular genetic mechanisms. Additionally, our findings highlight the importance of functionally assessing variants for their pathogenicity to tackle the problem of increasing variants of unknown significance in the public genetic databases.
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Proteínas de Membrana/genética , Síndrome de Wolfram/genética , Adolescente , Adulto , Alelos , Éxons , Feminino , Mutação da Fase de Leitura , Estudos de Associação Genética , Humanos , Masculino , Proteínas de Membrana/metabolismo , Mutação , Atrofia Óptica/genética , Linhagem , Fenótipo , Síndrome de Wolfram/fisiopatologiaRESUMO
The aim of this study was to measure the knowledge and attitudes of school staff regarding care in school for children with type 1 diabetes and to evaluate the contribution of the "Diabetes Program at School"(DPS). The data were collected through an online survey consisting of 55 questions, which included 39 knowledge and 16 attitude questions. The survey was delivered to the participating school staff via a link. A total of 55,677 people who completed 100% of the survey were included. Of the participants, 76% were teachers, 23% were school administrators and 0.1% were school nurses. 73% (40732) of the participants stated that they had heard about the "DPS". Of the participants who were aware of the DPS 75%, 50%, and 41% stated an increase in their knowledge level, self-confidence, and awareness respectively. Both scores were positively associated with being female and school nurse, having students with diabetes in the school, having been trained in childhood diabetes, being familiar with the program and being from the Western region of Turkey. The DPS is well known among school staff including teachers, school administrators, and school nurses. However, there are clear regional differences in the knowledge and attitude of school staff regarding diabetes care at school. Therefore, regional differences should be taken into account when planning the necessary interventions to prevent any further increase in the current inequalities. In addition, increasing the number of school nurses, together with strengthening the knowledge and attitude of school staff, can improve the level of diabetes care at school.
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Diabetes Mellitus Tipo 1/terapia , Conhecimentos, Atitudes e Prática em Saúde , Serviços de Saúde Escolar/organização & administração , Professores Escolares/psicologia , Adulto , Idoso , Estudos Transversais , Docentes/psicologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Inquéritos e Questionários , Turquia , Adulto JovemRESUMO
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
Isolated growth hormone deficiency (IGHD) is a rare condition mainly caused by mutations in GH1. The aim of this study was to assess the contribution of GHRHR mutations to IGHD in an unusually large group of patients. All GHRHR coding exons and flanking intronic regions were sequenced in 312 unrelated patients with nonsyndromic IGHD. Functional consequences of all newly identified missense variants were assessed in vitro (i.e., study of the expression of recombinant GHRHRs and their ability to activate the cyclic adenosine monophosphate (cAMP) signaling pathway). Genotype-phenotype correlation analyses were performed according to the nature of the identified mutation. We identified 20 different disease-causing GHRHR mutations (truncating and missense loss-of-function mutations), among which 15 are novel, in 24 unrelated patients. Of note, about half (13/24) of those patients represent sporadic cases. The clinical phenotype of patients with at least one missense GHRHR mutation was found to be indistinguishable from that of patients with bi-allelic truncating mutations. This study, which unveils disease-causing GHRHR mutations in 8% (24/312) of IGHD cases, identifies GHRHR as the second IGHD gene most frequently involved after GH1. The finding that 8% of IGHD cases without GH1 mutations are explained by GHRHR molecular defects (including missense mutations), together with the high proportion of sporadic cases among those patients, has important implications for genetic counseling.
Assuntos
Nanismo Hipofisário/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Mutação , Receptores de Neuropeptídeos/genética , Receptores de Hormônios Reguladores de Hormônio Hipofisário/genética , Alelos , Sequência de Aminoácidos , Substituição de Aminoácidos , AMP Cíclico , Análise Mutacional de DNA , Nanismo Hipofisário/diagnóstico , Feminino , Genótipo , Hormônio do Crescimento Humano/genética , Humanos , Masculino , Linhagem , Receptores de Neuropeptídeos/química , Receptores de Hormônios Reguladores de Hormônio Hipofisário/químicaRESUMO
Triple A syndrome (TAS) or Allgrove syndrome (OMIM #231550) is a rare autosomal recessive disorder characterised by adrenocorticotropic hormone-resistant adrenal insufficiency, alacrima, achalasia, and neurological and dermatological abnormalities. Mutations in the AAAS gene on chromosome 12q13 encoding the nuclear pore protein ALADIN have been reported in these patients. Between 2006 and 2017, we evaluated six patients with a clinical diagnosis of TAS, based on the presence of at least two symptoms, usually adrenal insufficiency and alacrima. In all cases, genetic analysis revealed homozygous mutations in the AAAS gene. One novel mutation was detected: a homozygous 10-bp deletion (c.1264_1273del, p.Q422NfsX126) in exon 14 of the AAAS gene that caused a frameshift that introduced an aberrant stop codon after 126 amino acids. This genetic variant is likely to be pathogenic because it caused a significant change in protein structure. A precise genotype-phenotype correlation was impossible to establish. CONCLUSIONS: Based on our experience, we recommend that molecular analysis should be performed in the presence of alacrima and at least one more symptom of TAS. Our cases share many clinical features of TAS and underline the variability in this syndrome, as well as the need for thorough investigation following a multidisciplinary approach. What is known: ⢠Triple A syndrome is characterised by achalasia, alacrima, adrenal insufficiency, neurological impairment, and dermatological abnormalities. ⢠A precise genotype-phenotype correlation has proved impossible to establish. What is new: ⢠These cases add to a large number of similar case reports with limited novel information. ⢠The newly identified AAAS gene mutation was reported.
Assuntos
Insuficiência Adrenal/diagnóstico , Acalasia Esofágica/diagnóstico , Proteínas do Tecido Nervoso/genética , Complexo de Proteínas Formadoras de Poros Nucleares/genética , Insuficiência Adrenal/genética , Sequência de Bases , Criança , Pré-Escolar , Acalasia Esofágica/genética , Feminino , Mutação da Fase de Leitura , Marcadores Genéticos , Testes Genéticos , Genótipo , Homozigoto , Humanos , Masculino , Fenótipo , Deleção de SequênciaRESUMO
OBJECTIVE: Cardiac dysfunction is a well-known consequence of diabetes mellitus. This study was designed to assess whether type 1 diabetic children and adolescents with good metabolic control have early echocardiographic signs of subclinical left ventricular dysfunction and whether diabetes duration has any influence, using conventional and nonconventional echocardiographic tools. METHODS: A total of 100 patients with type 1 diabetes mellitus and 80 gender- and age-matched healthy controls were included. The cases underwent standard conventional transthoracic echocardiography, tissue Doppler imaging, and two-dimensional speckle tracking echocardiography. None of the diabetic patients had signs of renal, retinal, or neurological complications of the disease, and all were good metabolic control (mean HbA1c <7.5%). RESULTS: There was no difference among groups in relation to age, sex, body mass index, and blood pressure. Conventional echocardiographic parameters were similar between diabetic and nondiabetic subjects except increased mitral valve peak A-wave and significantly lower mitral E/A ratio in diabetics. Diabetic patients had more advanced diastolic dysfunction with TDI analysis. In the diabetic group, left ventricular global longitudinal, circumferential, and radial strain and strain rate were significantly lower compared with the controls. There was a positive correlation between diabetes duration and cardiac dysfunction. CONCLUSION: The results of this study showed that the diabetic children and adolescents with good metabolic control had diastolic dysfunction when assessed with either conventional or tissue Doppler echocardiography. Also diabetic patients had subclinical LV systolic dysfunction with a normal LVEF which can be detected with 2D speckle tracking echocardiography.
Assuntos
Diabetes Mellitus Tipo 1/complicações , Diabetes Mellitus Tipo 1/fisiopatologia , Ecocardiografia/métodos , Disfunção Ventricular Esquerda/complicações , Disfunção Ventricular Esquerda/fisiopatologia , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Diástole , Feminino , Humanos , Masculino , Estudos Prospectivos , Reprodutibilidade dos Testes , Sístole , Disfunção Ventricular Esquerda/diagnóstico por imagemRESUMO
AIM: We analysed near final height (NFH) data in children with growth hormone deficiency (GHD) treated with recombinant human GH (rhGH). METHODS: We divided the idiopathic GHD patients into two groups, isolated GHD (IGHD) and multiple pituitary hormone deficiency, to evaluate NFH. Then, data were grouped according to gender, pre-pubertal/pubertal status and spontaneous or induced puberty. The trial was performed as a retrospective study. Median values are given, and measurements are expressed as standard deviation scores (SDSs). RESULTS: rhGH therapy was started at a median age of 12.1 (range 9.1-14.9) years in the IGHD group (n = 162, 83 males) and 9.1 (range 4.9-13.4) years in the multiple pituitary hormone deficiency group (n = 33, 22 males) at a median dose of 0.20 mg/kg/week. Height SDSs at the onset of therapy were -3.2 (range -4.4 to -2.6) and -3.9 (-6.8 to -2.8) in the two groups, respectively (P < 0.001). NFH SDSs were -1.8 (-2.9 to -1) and -1.6 (-3.1 to -0.4) (P = 0.139), and delta height SDSs (finish - start) were 1.4 (0.3-2.5) and 2.6 (1.5-4.6) (P < 0.001), respectively. Total delta height was 1.4 SDS (0.4-3.1) in patients who started rhGH treatment in the pre-pubertal period and 1.3 SDS (0.3-2.4) (P = 0.106) in those who started rhGH in the pubertal period. CONCLUSIONS: About 85% of the cases reached their genetic height potential. Delta height SDSs were higher than expected in cases that started treatment during the pubertal period. Therefore, it is possible to achieve NFH within the mid-parental height range in patients who start therapy during puberty.
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Estatura/efeitos dos fármacos , Hormônio do Crescimento Humano/deficiência , Hormônio do Crescimento Humano/uso terapêutico , Adolescente , Feminino , Humanos , Masculino , Puberdade , Estudos Retrospectivos , Maturidade SexualRESUMO
BACKGROUND: Bisphosphonates are used in the treatment of vitamin D intoxication (VDI) after failure of conventional therapy including prednisolone. Safety concerns restrict the use of bisphosphonates from being used as first-line therapy for VDI in children. The aim of this study was to evaluate the efficacy and safety of pamidronate in comparison with prednisolone in children with VDI. METHODS: We reviewed the hospital records of children consecutively diagnosed with VDI at two medical centers in a 15 year period. RESULTS: The subjects consisted of 21 children (age, 0.3-4.2 years) who were treated with prednisolone and/or bisphosphonates. Pamidronate (n = 18) or alendronate (n = 3) was used in six patients after unsuccessful prednisolone treatment, and in 15 patients from baseline. Initial serum calcium and 25-hydroxyvitamin D were 16.1 ± 1.9 mg/dL and 493 ± 219 ng/mL, respectively. The median time to reach normocalcemia in the pamidronate, alendronate and prednisolone groups was 3 days (range, 2-12 days), 4 days (range, 3-6 days) and 17 days (range, 12-26 days), respectively (P = 0.013). The pamidronate group had a fivefold shorter hospital stay than the prednisolone group. Three patients initially treated with prednisolone developed nephrocalcinosis but this did not occur in any patient treated with bisphosphonates from baseline. Apart from transient fever and moderate hypophosphatemia, no side-effect of bisphosphonate treatment was observed. CONCLUSIONS: Pamidronate is efficient and safe for the treatment of VDI in children. Pamidronate use significantly shortens the duration of treatment, and thereby may prevent the development of nephrocalcinosis. Instead of prednisolone, pamidronate should be used together with hydration and furosemide as the first-line therapy for VDI.
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Difosfonatos/administração & dosagem , Overdose de Drogas/tratamento farmacológico , Vitamina D/intoxicação , Administração Oral , Conservadores da Densidade Óssea/administração & dosagem , Pré-Escolar , Overdose de Drogas/sangue , GTP Fosfo-Hidrolases , Humanos , Lactente , Pamidronato , Estudos Retrospectivos , Resultado do Tratamento , Vitamina D/análogos & derivados , Vitamina D/sangueRESUMO
OBJECTIVE: To evaluate the adherence to growth hormone (GH) therapy and identify the influencing factors and outcomes in children. METHODS: A total of 217 GH-naïve patients in 6 pediatric endocrinology clinics were enrolled in the study. Structured questionnaires were filled out and patients were evaluated at the initiation and 3rd, 6th, and 12th months of therapy. Patients were categorized into 4 adherence segments based on percentage of doses omitted at each evaluation period, classified as excellent if 0%, good if 5%, fair if 5 to 10%, and poor if > 10%. RESULTS: There was a decrement in adherence to GH therapy during the study period (P = .006). Patients who showed excellent and good adherence to therapy had better growth velocity and growth velocity standard deviation scores (SDSs) (P = .014 and P = .015, respectively). A negative correlation between growth velocity SDS and number of missed injections was also observed (r = -.412; P = .007). A positive correlation between delta insulin-like growth factor-1 (IGF-1) SDS and growth velocity was demonstrated (r = .239; P = .042). IGF-1 levels were significantly higher in patients who showed excellent and good adherence to therapy (P = .01). Adherence was better in boys than in girls (P = .035), but adherence rates were not associated with age, cause of GH treatment, socioeconomic status, person who administered the injections, type of injection device, or GH product. CONCLUSION: Poor adherence to GH therapy was common in our group of patients and was one of the factors underlying suboptimal growth during therapy. Before considering other problems that can affect growth, clinicians should confirm good adherence to therapy.
Assuntos
Hormônio do Crescimento Humano/uso terapêutico , Adesão à Medicação , Adolescente , Criança , Feminino , Crescimento/efeitos dos fármacos , Hormônio do Crescimento Humano/deficiência , Humanos , Fator de Crescimento Insulin-Like I/análise , MasculinoRESUMO
OBJECTIVE: To evaluate heart rate variability by Holter monitoring in type 1 diabetic children compared with a healthy control group and determine the factors modifying heart rate variability. METHODS: This was designed as a prospective study comparing 28 patients, diagnosed with type 1 diabetes and under follow-up, with 27 healthy control group subjects. RESULTS: The patients were aged 9.9 ± 4.2 years in the diabetic group, including 13 (46.5%) girls and 15 (53.5%) boys. The healthy control group comprised 20 (74%) girls and seven boys (26%) with an average age of 8.6 ± 3.7 years. The search for factors modifying heart rate variability yielded the following correlations: for the time-dependent variables, negative between age and both average and maximal heart rate (r = -0.263 and -0.460, respectively), negative between haemoglobin A1c and percentage of differences between adjacent RR intervals >50 ms, positive between diabetes duration and square root of the mean of the sum of squares of differences between adjacent NN intervals. The average heart rate and percentage of differences between adjacent RR intervals >50 ms was significantly higher in the girls than the boys in all groups. With regard to the frequency-dependent factors affecting heart rate variability, correlations were found between haemoglobin A1c level and both total power and very low frequency (r = -0.751 and -0.644) and between very low frequency and diabetes duration. CONCLUSION: A reduction in heart rate variability parameters was observed in type 1 diabetes mellitus patients who had a long disease duration or were poorly controlled, as compared with healthy controls.
Assuntos
Glicemia/metabolismo , Diabetes Mellitus Tipo 1/fisiopatologia , Cardiomiopatias Diabéticas/fisiopatologia , Eletrocardiografia Ambulatorial/métodos , Hemoglobinas Glicadas/metabolismo , Frequência Cardíaca/fisiologia , Adolescente , Criança , Pré-Escolar , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/diagnóstico , Cardiomiopatias Diabéticas/diagnóstico , Cardiomiopatias Diabéticas/etiologia , Ecocardiografia Doppler em Cores , Feminino , Seguimentos , Humanos , Masculino , Estudos Prospectivos , Fatores de TempoRESUMO
To compare the corneal biomechanical properties in children with type 1 diabetes mellitus (DM) and healthy children. In this cross-sectional study, the study and control groups were composed of 68 children with DM and 74 healthy children, respectively. The corneal hysteresis (CH), corneal resistance factor (CRF), Goldmann-correlated intraocular pressure (IOPg) and corneal-compensated intraocular pressure (IOPcc) were measured with the ocular response analyzer (ORA). Associations between ocular and diabetic parameters were also evaluated. There were no statistically significant differences between the two groups in age or gender distribution. The mean CH was 10.8 ± 1.5 and 10.7 ± 1.7 mmHg while the mean CRF was 10.9 ± 1.9 and 10.5 ± 1.6 mmHg in the diabetic group and control group, respectively. The mean IOPg was 15.9 ± 3.7 and 15.2 ± 3.4 mmHg, and the mean IOPcc was 15.8 ± 3.0 and 15.3 ± 3.4 mmHg in the diabetic and control group, respectively. There were no statistically significant differences between the two groups for CH, CRF, IOPg, and IOPcc measurements (independent t test, p = 0.624, p = 0.207, p = 0.263, p = 0.395, respectively). This study shows that type 1 DM does not have any effect on the corneal biomechanical parameters in childhood.
Assuntos
Diabetes Mellitus Tipo 1/fisiopatologia , Adolescente , Adulto , Distribuição por Idade , Fenômenos Biomecânicos/fisiologia , Estudos de Casos e Controles , Criança , Estudos Transversais , Feminino , Humanos , Pressão Intraocular/fisiologia , Masculino , Análise de Regressão , Distribuição por Sexo , Adulto JovemRESUMO
Children with diabetes need consistent care across all environments, including school, where they spend significant time.Turkey's Diabetes at School Program, initiated in 2010, has made substantial progress in integrating diabetes care into the school system. The program's achievements include government support, annual awareness activities, communication between diabetes teams and schools, policy implementation, and training for school staff. A recent meeting of Provincial Health Service Officers highlighted ongoing efforts and future directions for the program, emphasizing the importance of continuous support for children with diabetes in educational settings. Key outcomes of this meeting include designated caregivers for children with diabetes at school, optional administration of insulin by trained staff, mandatory diabetes education for teachers, and health-conscious policies for school activities. The program's success is attributed to the collaborative efforts of teachers, healthcare professionals, and government officials. Ensuring robust support for children with diabetes in schools is vital for their well-being and academic success.
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Objective: Secondary osteoporosis is a condition when the underlying disease or its treatment causes the bone mass to decrease and the bone structure to deteriorate, increasing the risk of fracture. The importance of diagnosis and treatment during childhood and adolescence is due to its long-term negative effects. In this study, our objectives were to determine the diagnostic findings, treatment efficacy, and follow-up characteristics of childhood with secondary osteoporosis. Methods: 61 patients diagnosed with secondary osteoporosis between January 2000 and January 2021 were included in the study. The research is a cross-sectional and descriptive study. Study participants had to be under 18 years of age when the primary underlying disease was diagnosed and received treatment for secondary osteoporosis. Patient data were collected from patient files. Patient data were obtained from patient files in hospitals and were interpreted through the IBM SPSS Statistics for Windows version 20.0 (IBM Corp, Armonk, NY, USA). Results: 61 patients (28 women/33 men) were evaluated. The most common underlying primary diseases in patients with secondary osteoporosis were inflammatory diseases (57.7%), neuromuscular diseases (26.2%), immunodeficiency (13.1%), acute lymphoblastic leukemia (8.2%), metabolic diseases (8.2%), and solid organ transplantation. (8.2%), bone marrow transplantation (6.6%) and epilepsy (6.6%). The average chronological age when secondary osteoporosis was diagnosed was 11.89±4.88 years. They were evaluated for osteoporosis 6.39±5.13 years after the onset of the underlying primary chronic diseases. 78.7% of the patients had one or more chronic drug use. Systemic steroid use was 59%, chemotherapeutics 23%, immunomodulatory drugs 19.7%, antiepileptic drugs 8.2%, inhaled steroids 4.9%, IVIG 1.6%, and antituberculosis drugs 1.6%. Additionally, 1.6% of the patients were using testosterone as replacement, 3.3% L-Thyroxine, 1.6% estrogen, and 1.6% growth hormone. Bone pain was detected in 49.2% of the patients. All patients had vertebral fractures before treatment. Bisphosphonate treatment was given to 45 patients with secondary osteoporosis. There was a statistically significant increase in mean bone mineral density (BMD) and bone mineral content values six months after treatment, (p<0.001). There was a significant increase in BMD Z-score values for chronological and height age (p<0.001). The patients' BMD values increased on average by 31.15% with treatment. Following bisphosphonate treatment, there was a significant reduction in both fracture number and bone pain in patients (p<0.01). When patients who received and did not receive steroid treatment were compared, both groups received similar benefits from bisphosphonate treatment. Conclusion: Secondary osteoporosis is a condition that is influenced by many factors, such as the primary disease causing osteoporosis, chronic medication use, especially steroids. If left untreated, osteoporosis leads to important diseases such as bone pain, bone fractures, immobilization, and reduced linear growth of bone. When used to treat childhood secondary osteoporosis, Bisphosphonates significantly improve BMD and reduce fracture risk.
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MIRAGE syndrome is a rare multisystemic disorder characterized by various manifestations, such as myelodysplasia, susceptibility to infections, growth retardation, adrenal hypoplasia, genital anomalies, and enteropathy. In the literature, there have been rare cases of dysautonomia. We present a 6.5-year-old girl, who was first admitted to our department with short stature. On follow up, she exhibited multiple endocrinological issues, including transient hypothyroidism, primary hypoparathyroidism and dysautonomia, along with multisystem involvement. Further investigations revealed recurrent moniliasis, low IgM levels, and transient monosomy 7 in the bone marrow. Whole exome sequencing revealed a heterozygous pathogenic variant of SAMD9 (c.2159del; p.Asn720ThrfsTer35). Additional complications observed during follow-up included medullary nephrocalcinosis, hypomagnesemia, hypermagnesiuria, hypophosphatemia, decreased glomerular filtration rate, and nephrotic proteinuria. The patient also developed hyperglycemia, which was managed with low-dose insulin. This case highlights the diagnostic challenges and the diverse phenotypic presentation observed in MIRAGE syndrome.
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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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Introduction: Craniopharyngiomas (CPG) have complex challenges in treatment due to their proximity to vital structures, surgical and radiotherapeutic complexities, and the tendency for recurrence. This study aims to identify the prevalence of endocrine and metabolic comorbidities observed during initial diagnosis and long-term follow-up in a nationwide cohort of pediatric CPG patients. The study also highlights the associated difficulties in their management. Methods: Sixteen centers entered 152 patients into the ÇEDD NET data system. We evaluated the clinical and laboratory characteristics at presentation, administered treatments, accompanying endocrine, metabolic, and other system involvements, and the patient's follow-up features. Results: Of the evaluated patients, 64 were female, and 88 were male. At presentation, the mean age was 9.1 ± 3.67 (min:1.46-max:16.92) years. The most common complaints at presentation were headache (68.4%), vision problems (42%), short stature (15%), nausea and vomiting (7%). The surgical procedure applied to the patients was gross total resection (GTR) in 97 cases (63.8%) and subtotal resection in 55 cases (36.2%). Radiotherapy was initiated in 11.8% of the patients. In the pathological examination, 92% of the cases were adamantinamatous type, 8% were papillary type. Postoperatively, hormone deficiencies consisted of thyroid-stimulating hormone (92.1%), adrenocorticotropic hormone (81%), antidiuretic hormone (79%), growth hormone (65.1%), and gonadotropin (43.4%) deficiencies. Recombinant growth hormone treatment (rhGH) was initiated on 27 patients. The study showed hesitancy among physicians regarding rhGH. The median survival without relapse was 2.2 years. Median time of relapse was 1.82 years (range: 0.13-10.35 years). Relapse was related to longer follow-ups and reduced GTR rates. The median follow-up time was 3.13 years. Among the last follow-up visits, the prevalence of obesity was 38%, but of these, 46.5% were already obese at diagnosis. However, 20% who were not obese at baseline became obese on follow-up. Permanent visual impairment was observed in 26 patients, neurological deficits in 13 patients, and diabetes mellitus in 5 patients. Conclusion: Recurrence was predominantly due to incomplete resection and the low rate of postoperative radiotherapy. It also emphasized challenges in multidisciplinary regular follow ups and suggested early interventions such as dietary restrictions and increased exercise to prevent obesity.