ABSTRACT
Simple predictors are needed for the screening of nonalcoholic fatty liver disease (NAFLD) in obese children. We aimed to assess the role of anthropometric parameters in the prediction of NAFLD. Three hundred and thirty two obese children (152 male, 180 female) aged 4.6-17.0 years were included in this study. Weight, height, waist (WC), and hip circumference were measured. Body mass index (BMI), waist-hip-ratio (WHR), and waist-height-ratio (WHtR) were calculated. Obesity was defined as BMI for age and sex ≥ 95th percentile. NAFLD was diagnosed using ultrasonography (US). NAFLD was present in 60.8% of obese children. Fatty liver prevalence differed significantly by gender and puberty (55.0% of girls vs 67.7% of boys, and 28.7% in prepubertal vs 71.3% in pubertal children; p < 0.05). Significantly higher BMI, BMI standard deviation score (SDS), WC, and WHtR were found in obese children with NAFLD compared to obese children without NAFLD (p < 0.05). Only WHtR was found to be an independent predictor for NAFLD in a logistic regression analysis (p < 0.001, B:1.096, 95% CI 1.047-1.148). Fatty liver is common among obese children, particularly in obese boys. WHtR is a simple and easy index for predicting of NAFLD in obese children and can be used for mass screening in public health.
Subject(s)
Anthropometry/methods , Mass Screening/methods , Non-alcoholic Fatty Liver Disease/diagnosis , Pediatric Obesity/complications , Waist-Height Ratio , Adolescent , Child , Child, Preschool , Female , Humans , Male , Non-alcoholic Fatty Liver Disease/complications , Non-alcoholic Fatty Liver Disease/epidemiology , PrevalenceABSTRACT
BACKGROUND: Hereditary vitamin D-resistant rickets (HVDRR) is a rare genetic disorder caused by mutations in the vitamin D receptor (VDR) gene, which result in end-organ resistance to 1,25-(OH)2D3. PATIENTs with HVDRR are mostly treated using i.v. calcium therapy with a central catheter. However, central catheter-related complications have been reported. PATIENT: The patient was a 3-year-old boy presenting with waddling gait and alopecia. He had hypocalcemia [8 mg/dl (2 mmol/l)], hyperparathyroidism (1,232 ng/l), and elevated 1,25-(OH)2D3 levels (>250 pmol/l). DNA sequence analyses of the VDR gene showed a homozygous C-T transition at codon 152, resulting in a non-sense mutation in exon 5. INTERVENTIONS AND OUTCOMES: The patient was initially treated with calcitriol (80 ng/kg/day) and high-dose oral calcium (150 mg/kg/day) for one year. At the end of the first year, intermittent (5 days per month) i.v. calcium therapy without a central catheter was initiated because of insufficient clinical and radiological improvement. After 2 years of intermittent i.v. calcium therapy, there was a clear improvement based on clinical progress and on X-ray and biochemical findings. No peripheral complications were reported either. CONCLUSION: HVDRR with a non-sense mutation in the ligand-binding domain and alopecia was successfully treated with intermittent i.v. calcium without a central catheter.
Subject(s)
Alopecia/drug therapy , Calcium/therapeutic use , Familial Hypophosphatemic Rickets/drug therapy , Administration, Intravenous , Alopecia/complications , Alopecia/genetics , Calcium/administration & dosage , Child, Preschool , Drug Administration Schedule , Familial Hypophosphatemic Rickets/complications , Familial Hypophosphatemic Rickets/genetics , Humans , Male , Mutation , Receptors, Calcitriol/genetics , Treatment OutcomeABSTRACT
Wolcott-Rallison syndrome has been reported to be associated with early-onset diabetes, epiphyseal dysplasia, hepatic and renal dysfunction, mental retardation, severe growth retardation, neutropenia, exocrine pancreatic dysfunction, and central hypothyroidism. We report on primary hypothyroidism, which has not been previously described, of a patient with Wolcott-Rallison syndrome due to novel mutation (W521X), who showed improved growth after thyroid hormone treatment.
Subject(s)
Diabetes Mellitus, Type 1/diagnosis , Epiphyses/abnormalities , Hypothyroidism/etiology , Osteochondrodysplasias/diagnosis , Child, Preschool , Codon, Nonsense , Diabetes Mellitus, Type 1/complications , Diabetes Mellitus, Type 1/genetics , Female , Genetic Markers , Humans , Hypothyroidism/diagnosis , Hypothyroidism/genetics , Osteochondrodysplasias/complications , Osteochondrodysplasias/genetics , eIF-2 Kinase/geneticsABSTRACT
AIM: Gastric aspiration is still applied in many centres during delivery room management of the newborn without any supporting evidence. We aimed to determine whether gastric aspiration affects vital signs, oxygenation, nutrition and short-term prognosis of the newborn. METHOD: A total of 310 eligible healthy term newborns, identified from a total of 1300 live births, were randomly allocated to receive either gastric aspiration or standard care. During the first 20min, SpO(2), heart rate, cyanosis and retraction scores were recorded once in a min; and blood pressure, respiration rate and neuroadaptive capacity were recorded once in every 5min. Information about nutrition and vomiting behaviours of the babies were taken from the mothers of the neonates on the postnatal 1st day at bedside and by a telephone call on the 7th day. RESULTS: No difference was determined between the groups in terms of 1st to 5thmin Apgar scores, attainment duration of SpO(2) to 85%, 92% and 95%, mean heart rate and respiration rate. Retraction frequency and mean systolic blood pressure of the 5th-min values were found to be significantly higher in the gastric aspiration group. There was no difference between the groups regarding breastfeeding starting time and vomiting frequency. CONCLUSION: No positive effect of gastric aspiration in delivery room management of the newborn was observed. Conversely, the negative effects of gastric aspiration in neonates were observed with respect to physiological parameters. Our data suggest that gastric aspiration is not useful and may even be harmful in delivery room management of the healthy term newborns.
