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BACKGROUND: Mutations in NF1 gene could cause allelic disorders with clinical spectrum of Neurofibromatosis type 1 to Noonan syndrome. Here, a 7-year-old Iranian girl is described with Neurofibromatosis-Noonan syndrome due to a pathogenic variant in NF1 gene. METHODS: Clinical evaluations were performed along with genetic testing using whole exome sequencing (WES). The variant analysis including pathogenicity prediction was also done using bioinformatics tools. RESULTS: The chief compliant of the patient was short stature and lack of proper weight gain. Other symptoms were developmental delay, learning disability, inadequate speech skill, broad forehead, hypertelorism, and epicanthal folds, low set ears and webbed neck. A small deletion, c.4375-4377delGAA, was found in NF1 gene using WES. This variant was classified as pathogenic according to ACMG. CONCLUSIONS: NF1 variants may show variable phenotypes among the patients; identifying such variants is helpful in therapeutic management of the disease. WES is considered as an appropriate test to diagnose Neurofibromatosis-Noonan syndrome.
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Neurofibromatoses , Neurofibromatose 1 , Síndrome de Noonan , Humanos , Genes da Neurofibromatose 1 , Irã (Geográfico) , Mutação , Neurofibromatoses/diagnóstico , Neurofibromatoses/genética , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neurofibromatose 1/patologia , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/genética , Feminino , CriançaRESUMO
Background: The increased prevalence of obesity in early childhood is a public health problem. Childhood obesity may affect cardiorespiratory fitness and can induce obesity and its comorbidities in adulthood. We aimed to assess childhood overweight status by accelerated weight gain during infancy. Materials and Methods: This is a historical cohort that was conducted on 637 7-year-old students of Guilan province, north of Iran. Data were collected, including demographic characteristics, weight at 4, 6, 12, and 18 months, and clinical examination. The ROC curve was designated based on the standardized z-scores, and the most appropriate cutoff point by sensitivity and specificity was noted for predicting obesity at 7 years. Rapid weight gain (RWG) was also assessed. Results: Among participants, 334 (53.3%) were female. In this study, the mean and standard deviation of RWG in 0-4 months, 0-6 months, 0-12 months, and 0-18 months were 3.50 ± 0.89, 4.64 ± 1.02, 6.54 ± 1.21, and 8.00 ± 1.46 kg, respectively. The highest AUC was dedicated to 0-18 months (0.7 ± 0.05) and the suitable cut-off for RWG in this interval was 8.55 kg with 65.5% and 72.0% sensitivity and specificity, respectively. Conclusion: Although in the previous investigations, the changes in the first 3 years of life had a significant role in further complications, regarding our results, it seems that even earlier consideration of excess weight gain may be necessary.
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BACKGROUND: Thalassemia major is a genetic disease with a recessive autosomal pattern of inheritance that occurs as a result of disorder in hemoglobin synthesis. Researchers aimed to investigate the cutoff of ferritin for the development of hypothyroidism in patients with thalassemia major. MATERIALS AND METHODS: This was a retrospective analytic cross-sectional study that was conducted on the medical records of patients with thalassemia major. Overt hypothyroidism was defined as thyroid stimulating hormone (TSH) level of >6.5 mIU/L and T4 level of < 4.2 ng/dL and subclinical hypothyroidism was defined as TSH level of >6.5 mIU/L and T4 level of >4.2 ng/dL. Data were gathered by a form including age, sex, weight, height, body mass index, thyroid test results, and the mean of last 3 consecutive hemoglobin and ferritin levels. RESULTS: In this study, 67 patients were evaluated. The mean age of the participants was 15.37±3.73 years. The frequency of subclinical hypothyroidism was 10.4%, and no cases of clinical hypothyroidism were noted as well as secondary hypothyroidism. Although there was a significant linear correlation between mean ferritin level and TSH (P=0.008), no significant correlation was noted between levels of ferritin and T4 levels. As ferritin was significantly correlated with TSH, the results showed that the mean serum level of ferritin in ß-thalassemia major patients with hypothyroidism was higher than that in ß-thalassemia major patients with normal thyroid status (P=0.013). The cutoff point for ferritin was 1953 ng/mL (sensitivity=85.7%, specificity=60%). CONCLUSION: It seems that considering the development of hypothyroidism by reaching the ferritin cutoff point, intensification of the iron chelation regimen along with a shorter interval for laboratory endocrine examinations can be recommended.
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Ferritinas/sangue , Hipotireoidismo/sangue , Hipotireoidismo/etiologia , Sobrecarga de Ferro/complicações , Talassemia beta/terapia , Adolescente , Criança , Estudos Transversais , Feminino , Humanos , Masculino , Valores de Referência , Estudos Retrospectivos , Reação Transfusional/sangueRESUMO
Introduction Metabolic syndrome (MetS) and its associated components were reported as a possible cause of inner ear dysfunction. However, research about the influence of cardiovascular risk factors on hearing thresholds are conducted mainly in adult patients. Objective The aim of the present study was to investigate auditory function in adolescents with MetS compared with healthy controls. Methods One hundred adolescents with metabolic syndrome and 200 sex- and age-matched controls were recruited from a university pediatric endocrine clinic from May 2018 to July 2020. Hearing loss was defined as hearing level ≥ 15 dB at speech frequency (SFHL) or high frequency (HFHL) in one or both ears. A multivariable conditional logistic regression analysis examined the correlation between MetS components and several important demographic characteristics, and hearing loss. Results A total of 165 (55.0%) boys and 135 (45.0%) girls participated in this study. The rates of SFHL and HFHL in adolescents with MetS were 32.0% and 51.0%, respectively. Those values for controls were 5.0% and 15.5%, respectively. The regression analysis showed high triglycerides as a significant predictor for SFHL (odds ratio 10.87; 95% confidence interval: 1.98, 59.74). Neither predictor of interest was significant for HFHL. Conclusion Hypertriglyceridemia may be an important factor in the pathogenesis of SFHL. However, the strength of the association was not significant with a wide confidence interval. Also, we were unable to find an association between predictors and HFHL with the current sample size. Larger and prospective studies are recommended.
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Background: Childhood type 1 diabetes mellitus (T1DM) is an autoimmune disease which is increasing in incidence, but little is known about the events that trigger the autoimmune process. Most of the time, these processes begin in prenatal and natal periods; therefore, this study aimed to investigate the prenatal and neonatal risk factors of T1DM in childhood. Methods: This case-control study has been performed on children with T1DM who referred to the 17th Shahrivar children's hospital. The control group consisted of healthy siblings of the case group. Data were gathered using a form that included maternal and neonatal characteristics. Data were reported by descriptive statistics in SPSS 19. To investigate the effect of quantitative and qualitative variables on the development of T1DM, logistic regression and Chi-square tests were used, respectively. Results: Birth weight, birth height, and maternal weight gain during pregnancy had a significant relationship with T1DM (odds ratio [OR] = 1.23, 2.57, and 1.14, respectively). In addition, there was a significant relationship between gestational hypertension (OR = 5.27), neonatal jaundice (OR = 3.42), cesarean section (OR = 2.06), and being non-first-born child (OR = 2.32) and T1DM. Also, premature rupture of membrane, maternal urinary tract infection, and nonexclusive breastfeeding had a significant association with T1DM (OR = 4.37, 3.94, and 2.30, respectively). There were no statistically significant differences between maternal age, sex, neonatal respiratory disease, prematurity, and neonatal infections and T1DM (P > 0.05). Conclusions: Prenatal and neonatal risk factors can have a significant role in the occurrence of TIDM. Therefore, considering these risk factors can have a preventive effect on T1DM.
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Background: Turner syndrome is a common genetic disorder in females. It is a disorder characterized by variable number of clinical features, so it needs a multidisciplinary approach for care. Therefore, we aimed to define the cutoff of gonadotropins for close evaluation of cardiometabolic risk factors in Turner syndrome. Methods: This is a case-control study on 31 patients with Turner syndrome and 31 healthy individuals. Clinical examination including blood pressure measurement and systems evaluation was performed. Laboratory testing, which included 12-h fasting, assessed lipid profile, glucose, and serum gonadotropin. Results: Turner syndrome had a higher BMI, systolic, and diastolic blood pressure than the normal group (P < 0.001) Patients with Turner syndrome had significantly higher total cholesterol, low-density lipoprotein, triglyceride, and TG-to-high-density lipoprotein ratio compared to the healthy individuals (P < 0.05). With increasing LH and FSH, BMI values, systolic blood pressure, and total cholesterol increased significantly (P < 0.001). Serum TG levels in Turner syndrome were only positively correlated with LH and not correlated with FSH. The cutoff point of LH and FSH for triglyceride in upper 75 percentile were 31 (sensitivity = 38.1%, specificity = 80%) and 48 (sensitivity = 61.9%, specificity = 70%), respectively. Conclusions: Based on dyslipidemia and lower level of ejection fraction, considering cardiometabolic risk factors in lower age groups in Turner syndrome can be recommended.
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BACKGROUND: Diabetes mellitus is one of the most common chronic metabolic diseases in children and adolescents, which changes the cellular metabolism. Phosphorus is an essential element for metabolism. Early in the progression of diabetes, a paradoxical metabolic imbalance in inorganic phosphate (Pi) occurs that may lead to reduced high energy phosphate and tissue hypoxia. While low and high uncontrolled blood sugars can be easily recognized by clinical symptoms, low and high plasma inorganic phosphate remain unrecognizable. Therefore, we aimed to assess the association between hemoglobin A1c (HbA1c) with serum inorganic phosphate in children with type 1 diabetes. MATERIALS AND METHODS: This cross-sectional study was conducted on 102 patients selected from a pediatric ward in 17th Shahrivar hospital in Rasht, North of Iran. Clinical data including age, sex, height, weight, BMI, duration of diabetes, the level of HbA1c, and phosphorus were gathered. The level of HbA1c was adjusted by age in the final analysis. RESULTS: The mean age of samples was 9.98±3.91 years old and 46 participants (45.1%) were male. It was found that HbA1c had a reversed and significant relationship with BMI (r=-0.215 and P=0.03), but there was no correlation between phosphate, age, height and weight, duration of diabetes mellitus, or rate of insulin consumption with HbA1c (P>0.05). CONCLUSION: The finding showed that HbA1c had a reversed relationship with BMI but there was no correlation between phosphate and HbA1c.
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Abstract Introduction Metabolic syndrome (MetS) and its associated components were reported as a possible cause of inner ear dysfunction. However, research about the influence of cardiovascular risk factors on hearing thresholds are conducted mainly in adult patients. Objective The aim of the present study was to investigate auditory function in adolescents with MetS compared with healthy controls. Methods One hundred adolescents with metabolic syndrome and 200 sex- and age-matched controls were recruited from a university pediatric endocrine clinic from May 2018 to July 2020. Hearing loss was defined as hearing level ≥ 15 dB at speech frequency (SFHL) or high frequency (HFHL) in one or both ears. A multivariable conditional logistic regression analysis examined the correlation between MetS components and several important demographic characteristics, and hearing loss. Results A total of 165 (55.0%) boys and 135 (45.0%) girls participated in this study. The rates of SFHL and HFHL in adolescents with MetS were 32.0% and 51.0%, respectively. Those values for controls were 5.0% and 15.5%, respectively. The regression analysis showed high triglycerides as a significant predictor for SFHL (odds ratio 10.87; 95% confidence interval: 1.98, 59.74). Neither predictor of interest was significant for HFHL. Conclusion Hypertriglyceridemia may be an important factor in the pathogenesis of SFHL. However, the strength of the association was not significant with a wide confidence interval. Also, we were unable to find an association between predictors and HFHL with the current sample size. Larger and prospective studies are recommended.
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BACKGROUND: A large number of epidemiological studies from different geographical regions showed a considerable relationship between low birth weight (LBW) and adverse health effects later in life. This study aims to assess the birth weight (BW) as a cardio metabolic risk factor in Iranian adolescents. METHODS: This cross-sectional study was conducted on 12-year-old students from different areas of Rasht, North Iran. Data were collected by a questionnaire including variables as birth height, BW, gestational age, blood pressure, and laboratory tests including triglycerides (TGs), total cholesterol, low-density lipoprotein-cholesterol (LDL-C), high-density lipoprotein-cholesterol (HDL-C), and insulin level. Data were analyzed using t-test, Chi-square, and Pearson correlation coefficient. RESULTS: Overall, 858 adolescents participated in this study. Results showed significant correlation between BW and abdominal circumference, hip circumference, total cholesterol, TG, HDL-C and LDL-C (P = 0.064, 0.194, 0.224, 0.017, and 0.017, respectively). CONCLUSIONS: The study findings on the correlation between BW and cardio metabolic factors might serve as confirmatory evidence on the association of LBW with future cardio metabolic disorders.
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OBJECTIVE: Biotin is a coenzyme composed of four carboxylases. It presents in amino acid catabolism, fatty acid synthesis, and gluconeogenesis. Biotinidase recycles the vitamin biotin. A biotinidase deficiency is a neurocutaneous disorder with autosomal recessive inheritance. The symptoms can be successfully treated or prevented by administering pharmacological doses of biotin. Although, according to neonatal prenatal medicine (2011), a biotinidase deficiency does not manifest during the neonatal period. In this study, we report on a case of biotinidase deficiency in the first week of birth. CASE REPORT: A 3100 g term boy was born via cesarean section. After 3 days, he was referred to the 17th Shahrivar Hospital with the chief complaint of tachypnea and grunting. Laboratory results revealed that liver and renal function tests, serum electrolytes, and blood indexes except ammonia were all normal. Within few days after the administration of oral biotin, the patient showed dramatic improvement and was discharged. However, within 4 months he was admitted two other times with the complaints of diarrhea and pneumonia. Unfortunately, he expired after 4 months. According to our results, it seems that clinicians should accurately assess suspicious patients and even assess infants for biotinidase deficiency.