Comprehensive management of children and adolescents with type 1 diabetes mellitus through personalized physical exercise and education using an mHealth system: The Diactive-1 study protocol.

Introduction: The use of new technologies presents an opportunity to promote physical activity, especially among young people with type 1 diabetes (T1DM), who tend to be less active compared to their healthy counterparts. The aim of this study is to investigate the impact of a personalized resistance exercise program, facilitated by the Diactive-1 App, on insulin requirements among children and adolescents diagnosed with T1DM. Methods and analysis: A minimum of 52 children and adolescents aged 8-18 years, who were diagnosed with T1DM at least 6 months ago, will be randomly assigned to either a group engaging in an individualized resistance exercise program at least 3 times per week over a 24-week period or a waiting-list control group. The primary outcome will be the daily insulin dose requirement. The secondary outcomes will include glycemic control, cardiometabolic profile, body composition, vascular function, physical fitness, 24-hour movement behaviors, diet, and psychological parameters. The usability of the app will also be assessed. Ethics and dissemination: Ethical approval to conduct this study has been granted by the University Hospital of Navarra Research Board (PI_2020/140). Parents or legal guardians of minors participating in the study will provide written consent, while children and adolescents will sign an assent form to indicate their voluntary agreement. The trial's main findings will be shared through conference presentations, peer-reviewed publications, and communication directly with participating families. This study aims to offer valuable insights into the holistic management of children and adolescents with T1DM by utilizing personalized exercise interventions through an mHealth system. Trial registration: NCT06048757.

Adaptation, reliability and validity of health-related quality of life questionnaires: Disabkids chronic and specific diabetes disease in children and adolescents with diabetes mellitus type 1.

INTRODUCTION: It is recommended to periodically evaluate the health-related quality of life (HRQoL) in children and adolescents with type 1 diabetes mellitus (DM1). Despite this, no specific paediatric HRQoL instrument for DM1 has been validated in Spanish. OBJECTIVES: Multicentre, prospective descriptive study in children and adolescents with DM1 with the aim of carrying out cross-cultural adaptation to Spanish and evaluating the reliability and validity of the DISABKIDS chronic disease and diabetes-specific HRQoL questionnaires, using reverse translation. MATERIAL AND METHODS: Sociodemographic variables were compiled together with the most recent capillary glycated haemoglobin (HbA1c) value and HRQoL questionnaires were handed out to 200 Spanish children and adolescents with DM1 aged between 8 and 18 years of age under evaluation in 12 different hospitals. RESULTS: The mean score on the HRQoL questionnaire (patient version) for chronic disease was 80.32 (13.66), being significantly lower (P = .04) in patients with a shorter duration of the disease (≤5 years): 78.34 (13.70) vs. 82.60 (13.36). The mean score of the DM1-specific modules was: 60.81 (16.23) for disease impact and 65.59 (26.19) for treatment impact. The mean HbA1c value was 7.08 (0.79), with no differences (P > .05) noted in the mean score of the HRQoL instruments in patients with HbA1c ≤7% vs. HbA1c >7%. The Cronbach α value varied between 0.72 and 0.90. CONCLUSIONS: The Spanish versions of the DISABKIDS HRQoL instruments meet the proposed objectives of semantic equivalence and internal consistency, making it possible to periodically assess HRQoL in these patients. The good average glycaemic control presented by the patients may explain why no difference was found in the HRQoL instruments based on the HbA1c value.

Is fear of hypoglycemia a major barrier to an active lifestyle in children and adolescents with type 1 diabetes? The Diactive-1 Study.

Studies on fear of hypoglycemia as a barrier to physical activity among youth with type 1 diabetes (T1D) have been limited and controversial, most of which used self-reported assessment. The aim of the study was to evaluate the relationship between fear of hypoglycemia and physical activity and glycemic metrics in children and adolescents with T1D. Seventy-four participants (6-18 years of age; 44.6% females) with T1D were included in the study. Physical activity was assessed through accelerometry on nine consecutive days, and blood glucose metrics were simultaneously tracked using continuous glucose monitoring (time-in-range and hypoglycemic events). A closed question was used to evaluate the avoidance of physical activity due to fear of hypoglycemia. Fifteen participants (20%) reported avoiding physical activity due to fear of hypoglycemia. The group reporting no fear of hypoglycemia showed lower total physical activity (-35.33 min/day, 95% confidence interval [CI] (-77.57 to -1.47)) and light physical activity (-29.81 min/day, 95% CI -64.01 to -2.75) and higher sedentary time (77.95 min/day, 95% CI 26.46-136.87) per day compared with those with fear of hypoglycemia. No difference was found between those patients with fear of hypoglycemia in terms of meeting the recommendations of glycated hemoglobin, glucose coefficient of variation, and time-in-range when compared to those with no fear of hypoglycemia. In conclusion, children and adolescents with fear of hypoglycemia were more active, less sedentary, and had similar glycemic metrics to those without fear. Our results therefore suggest that fear of hypoglycemia may be less of a barrier to an active lifestyle than previously believed.

Effects of exercise training on glycaemic control in youths with type 1 diabetes: A systematic review and meta-analysis of randomised controlled trials.

The aim of the study is to evaluate whether exercise interventions are associated with improved glycaemic control in children and adolescents with type 1 diabetes mellitus (T1DM), and to examine its relationship with the characteristics of the intervention (i.e. type, intensity, length, and duration of the sessions). Eligible criteria were randomised controlled trials of youth aged 6-18 years with T1DM, participating in an exercise-based intervention where glycaemic control is measured (i.e. glycated haemoglobin [HbA1c]). Pooled effect sizes (Hedges'g) were calculated using random-effects inverse-variance analyses. Fourteen studies enrolling 509 patients were analysed. Effect size was expressed as Hedges' g to correct for possible small sample bias. Overall, HbA1c levels in the exercise group (g = -0.38 95% confidence interval [CI], -0.66 to -0.11; mean difference [MD] = -0.62%) were reduced compared with the control group. Concurrent training (g = -0.63 95%CI, -1.05 to -0.21), high-intensity exercise (g = -0.43 95%CI, -0.83 to -0.03), interventions ≥24 weeks (g = -0.92 95%CI, -1.44 to -0.40), and sessions ≥60 minutes (g = -0.71 95%CI, -1.05 to -0.08) showed larger changes (MD = -0.66% to 1.30%). In conclusion, our study suggests that programmes longer than 24 weeks with at least 60 min/session of high-intensity concurrent exercise may serve as a supportive therapy to metabolic control in youth with T1DM.HighlightsExercise training has a moderate effect on the reduction of glycated haemoglobin (HbA1c) and insulin dose per day in youths with type 1 diabetes.Exercise training moderately increases cardiorespiratory fitness youths with type 1 diabetes.Reductions in HbA1c are stronger with high-intensity and concurrent training (i.e. aerobic and strength) interventions, and longer programmes.

Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara / Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology

La acrodisostosis es una displasia esquelética rara, de herencia autosómica dominante, que se caracteriza por la presencia de disostosis facial y periférica, talla baja y diferentes grados de obesidad. La acrodisostosis de tipo 1, secundaria a la mutación heterocigota en el gen PRKAR1A (17q24.2), se caracteriza por la asociación de resistencia hormonal múltiple con anomalías esqueléticas. Su incidencia está infradiagnosticada debido a que comparte rasgos clínicos y de laboratorio con otras entidades como el seudohipoparatiroidismo. Presentamos el caso de una niña de 8 años, con acrodisostosis tipo 1, confirmada mediante estudio genético. Además del fenotipo característico descrito, la talla baja y la resistencia hormonal, la paciente presentó una afectación progresiva de la función pulmonar: un patrón pulmonar obstructivo no reversible. En la literatura revisada, no se han encontrado otros casos que describan esta asociación entre acrodisostosis y afectación respiratoria.

Acrodysostosis is a rare skeletal displasia, of autosomal dominant inheritance, characterized by the presence of facial and peripheral dysostosis, short stature and obesity. Type 1 acrodysostosis is secondary to a mutation in the PRKAR1A (17q24.2) gene, which results in multi hormonal resistance and skeletal anomalities. This syndrome is under-diagnosed as it shares analytical and clinical characteristics with other entities, such as pseudohypoparathyroidism. We report the case of an eight-year-old girl with genetically confirmed type 1 acrodysostosis. In addition to the characteristic phenotype described, the short stature and the hormonal resistance, the patient suffered a progressive lung function deterioration: an irreversible pulmonary obstructive pattern. We have not found in previous literature cases reporting an association between acrodysostosis and lung function impairement.

[Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology]. / Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara.

Acrodysostosis is a rare skeletal displasia, of autosomal dominant inheritance, characterized by the presence of facial and peripheral dysostosis, short stature and obesity. Type 1 acrodysostosis is secondary to a mutation in the PRKAR1A (17q24.2) gene, which results in multi hormonal resistance and skeletal anomalities. This syndrome is under-diagnosed as it shares analytical and clinical characteristics with other entities, such as pseudohypoparathyroidism. We report the case of an eight-year-old girl with genetically confirmed type 1 acrodysostosis. In addition to the characteristic phenotype described, the short stature and the hormonal resistance, the Afectación respiratoria en paciente con acrodisostosis: una asociación infrecuente de una enfermedad rara Respiratory impairment in a patient with acrodysostosis: A rare association of an uncommon pathology patient suffered a progressive lung function deterioration: an irreversible pulmonary obstructive pattern. We have not found in previous literature cases reporting an association between acrodysostosis and lung function impairement.

La acrodisostosis es una displasia esquelética rara, de herencia autosómica dominante, que se caracteriza por la presencia de disostosis facial y periférica, talla baja y diferentes grados de obesidad. La acrodisostosis de tipo 1, secundaria a la mutación heterocigota en el gen PRKAR1A (17q24.2), se caracteriza por la asociación de resistencia hormonal múltiple con anomalías esqueléticas. Su incidencia está infradiagnosticada debido a que comparte rasgos clínicos y de laboratorio con otras entidades como el seudohipoparatiroidismo. Presentamos el caso de una niña de 8 años, con acrodisostosis tipo 1, confirmada mediante estudio genético. Además del fenotipo característico descrito, la talla baja y la resistencia hormonal, la paciente presentó una afectación progresiva de la función pulmonar: un patrón pulmonar obstructivo no reversible. En la literatura revisada, no se han encontrado otros casos que describan esta asociación entre acrodisostosis y afectación respiratoria.

Clinical data and basal gonadotropins in the diagnosis of central precocious puberty in girls.

OBJECTIVE: The objective of this study was to analyze whether some auxological characteristics or a single basal gonadotropin measurement will be sufficient to distinguish the prepubertal from pubertal status. METHODS: Auxologycal characteristics were recorded and serum LH and FSH were measured by immunochemiluminescence assays before and after GnRH stimulation test in a sample of 241 Caucasian girls with breast budding between 6- and 8-years old. Peak LH levels higher than 5 IU/L were considered a pubertal response. Area under the curve, cut-off points, sensitivity, and specificity for auxologycal variables and basal gonadotropins levels were determined by receiver operating curves. RESULTS: There were no significant differences in age at onset, weight, height, BMI and height velocity between both groups. Bone age was significantly higher in pubertal girls (P < 0.05), although with limited discriminatory capacity. The sensitivity and specificity for the basal LH levels were 89 and 82%, respectively, for a cut off point of 0.1 IU/L. All girls in the pubertal group had a basal LH higher than 1.0 IU/L (positive predictive value of 100%). There was a wide overlap of basal FSH and LH/FSH ratio between prepubertal and pubertal girls. CONCLUSIONS: Auxologycal characteristics should not be used only in the differential diagnosis between prepubertal from pubertal status in 6- to 8-year-old girls. We found a high specificity of a single basal LH sample and it would be useful for establishing the diagnosis of puberty in this age group, reducing the need for GnRH stimulation testing.

Are there any seasonal variations in 25-hydroxyvitamin D and parathyroid hormone serum levels in children and adolescents with severe obesity?

The objective of this study was to analyze the prevalence of hypovitaminosis D in children with severe obesity. We hypothesized that severe obesity could modify the seasonal variations in 25(OH)D and PTH serum levels throughout the year. A cross-sectional clinical and blood testing (calcium, phosphorus, 25(OH)D, and PTH) was carried out in 282 patients with severe obesity, aged 7.2-15.2 years. A control group was recruited (348 healthy children, aged 7.1-14.9 years). The criteria of the US Endocrine Society were used for the definition of hypovitaminosis D. Vitamin D deficiency and hyperparathyroidism were more frequent (p < 0.05) in the obesity group (44.5 vs. 11.5% and 22.4 vs. 3.9%, respectively). There were seasonal variations in 25(OH)D levels in the obesity group, but they were lower (p < 0.05) with respect to the control group. In contrast, PTH levels were higher (p < 0.05) in the obesity group with respect to the control group, but there were no significant seasonal variations in PTH levels.Conclusion: Suboptimal vitamin D status and high levels of PTH are a common feature in pediatric population with severe obesity. In these patients, the seasonal variations in 25(OH)D were not modified, and PTH levels remained increased throughout the year, but without any seasonal variations. What is Known: • Obesity has been associated with lower 25(OH)D and higher PTH levels. • Relation among vitamin D and PTH through a natural year in children with obesity is partially known. What is New: • Seasonal variations in 25(OH)D are maintained in children with severe obesity, but PTH levels remained increased throughout the year, without seasonal variations. • -PTH levels in obesity are independent of vitamin D status and do not appear to represent secondary hyperparathyroidism.

Effects of the application of a prolonged combined intervention on body composition in adolescents with obesity.

BACKGROUND: The aim of this study is to describe the effects of a prolonged dietary-behavioral-physical activity intervention (24 months) on body composition in a group of adolescents with obesity. METHODS: Longitudinal study in 196 individuals with obesity (86 boys and 110 girls) aged 10.1-14.9 years that completed a prolonged combined intervention (24 months). Values for weight, height, skinfold thickness, waist circumference, BMI, body fat, fat mass index (FMI) and fat-free mass index (FFMI) were registered or calculated. A good response to treatment was reported when a BMI z-score reduction of greater than or equal to 0.5 units of the initial value occurred after 24 month of follow up. RESULTS: A good response after 24 months of follow-up reached 58.2% (n = 114). In boys with obesity and BMI status improvement, weight z-score, BMI z-score, body fat, and FMI significantly decreased (p < 0.05). In girls with obesity and BMI status improvement, weight z-score, BMI z-score, waist circumference, waist z-score, body fat and FMI significantly decreased (p < 0.05). In both sexes the height and FFMI increased significantly (p < 0.05). The multiple logistic regression analysis showed that girls and younger age were associated with BMI status improvement; concurrently, the place of residence (urban or rural) and degree of obesity were not associated with BMI status improvement. CONCLUSION: The application of long-term combined strategies in the treatment of childhood obesity seems to be effective. As BMI decreases, a reduction in fat mass is also detected, with evident sexual dimorphism, in the absence of changes in fat-free mass and, consequently, in longitudinal growing.

[Catch-up growth and associated factors in very low birth weight infants]. / Crecimiento recuperador y factores asociados en niños de muy bajo peso al nacer.

INTRODUCTION: The characteristics of catch-up growth in very low birth weight infants (VLBW) have not been clearly established. The aim of this study was to analyse the height catch-up and some associated factors in a cohort of VLBW (birth weight<1,500g) from birth to age 14 years. METHODS: We obtained retrospective data on weight and height at birth and ages one, 2, 3, 4, 6, 8, 10, 12 and 14 years in a cohort of 170 VLBW. We compared these anthropometric values with those documented in a control group. RESULTS: Thirty-seven children (21.8%) were born with an extremely low birth weight and 32 (18.8%) extremely preterm. At 10 years of age, 7% of VLBW (1,000-1,500g) and 35% of extremely low birth weight (<1,500g) children had short stature (P=.001). Almost all VLBW children who had a normal height at ages 2, 4 and 10 years had exhibited adequate weight catch-up in previous evaluations. We found that extremely low birth weight and extremely preterm were independent predictors for inadequate height catch-up. CONCLUSION: The growth pattern of VLBW children has specific characteristics. The catch-up in weight seems to be an important factor for catch-up in height, and therefore a thorough nutritional follow-up is recommended in these children.

Assessment of vitamin D status and parathyroid hormone during a combined intervention for the treatment of childhood obesity.

BACKGROUND: Obesity is associated with vitamin D deficiency. The aim of this work is to analyze the changes in vitamin D status and PTH levels in a group of children with obesity receiving combined intervention program in order to get BMI status reduction. METHODS: Longitudinal study in 119 children with obesity, aged 9.1-13.9 years, included in a 1-year combined dietary-behavioral-physical activity intervention. Anthropometric measurements (weight, height, BMI and fat mass index) were registered every 3 months and blood testing (calcium, phosphorous, 25(OH)D and PTH) were collected at the beginning and after 12 months of follow-up. A control group was recruited (300 healthy children, aged 8.1-13.9 years). The criteria of the US Endocrine Society were used for the definition of hypovitaminosis D. RESULTS: Vitamin D deficiency was significantly higher in obesity group (31.1 vs. 14%). There was negative correlation between 25(OH)D and fat mass index (r = -0.361, p = 0.001). Patients with BMI reduction throughout combined intervention were 52 (43.7%). There was a significant increase in the prevalence of hypovitaminosis D in patients without BMI reduction at the end of follow-up, but in those patients with BMI reduction there was no changes of vitamin D status. CONCLUSIONS: Obesity increases the prevalence of suboptimal vitamin D status, and a BMI status reduction in children with obesity may be required to at least stabilize vitamin D status.

Central precocious puberty in girls: Diagnostic study and auxological response to triptorelin treatment. / Pubertad precoz central en niñas: estudio diagnóstico y respuesta auxológica al tratamiento con triptorelina.

INTRODUCTION: There are several controversies regarding the diagnostic tests and management of central precocious puberty (CPP). The aim of this study is to present the experience acquired in a group of girls with CPP treated with triptorelin, and to analyze the auxological characteristics and diagnostic tests. MATERIAL AND METHODS: An observational, retrospective study in a group of 60 girls with CPP was conducted between January 2010 and December 2017. Sociodemographic, auxological and hormonal data were recorded at diagnosis, and pelvic ultrasound and magnetic resonance imaging of the head were performed. Girls were treated with triptorelin and monitored after treatment discontinuation until menarche. RESULTS: At treatment start, chronological age and bone age were 7.7±0.7 and 9.7±0.8 years respectively, and growth velocity was 8.3±1.6cm/year. Target height was 161.1±5.8cm. Peak LH level after stimulation was 16.6±12.1 IU/l. Ovarian volumes were greater than 3mL in 35% of cases. MRI of the head was pathological in seven girls (11.7%). At treatment completion, chronological age and bone age were 10.3±1.1 and 11.2±0.8 years respectively, and growth velocity was 4.7±1.4cm/year. At the age of menarche (11.9±0.9 years), height was 157.5±5.7cm. CONCLUSIONS: Treatment of CPP with triptorelin appears to be beneficial. The possibility to block pubertal development and slow skeletal maturation allows patients to reach their target height. However, individualized auxological monitoring would be mandatory.

Assessment of body composition changes during a combined intervention for the treatment of childhood obesity.

OBJECTIVE: One of the main objectives in the treatment of childhood obesity is to reduce the percentage of body fat mass without negatively affecting fat-free mass (FFM) and, consequently, longitudinal growth. The aim of this study was to analyze the changes that take place in body compartments in a group of patients with obesity under combined treatment. METHODS: This was a longitudinal study with 109 children with obesity 9.1 to 13.9 y of age included in a combined dietary-behavioral-physical activity intervention. Weight, height, skinfold thickness, and waist circumference were registered, and body mass index (BMI), fat mass index (FMI), FFM and waist-to-height ratio (WHR) were calculated over a period of 12 mo. The BMI z-score allowed us to establish two groups: obesity (n = 50) and severe obesity (n = 59). A nutritional improvement was considered when a decrease of BMI z-score of the initial value occurred after 12 mo of follow-up. RESULTS: The improvement in nutritional status reached 61.5% (n = 67). In the obesity group with nutritional improvement (n = 32), FMI significantly decreased (P < 0.005) and there were no significant differences in weight, height z-score, FFM, and WHR throughout the combined intervention. In the severe obesity group with nutritional improvement (n = 35), there were no significant differences in weight, height z-score, FMI, FFM, and WHR throughout combined intervention. CONCLUSIONS: Maintaining a constant weight in the mid- to long term to improve nutritional status would be adequate in children with infantile-juvenile obesity. However, maintaining a steady weight would not be sufficient for those patients diagnosed with severe obesity.

[Prevalence of hypovitaminosis D and associated factors in Spanish population of school children and adolescents]. / Prevalencia de hipovitaminosis D y factores asociados en la edad infantojuvenil.

OBJECTIVE: To analyse the prevalence of hypovitaminosisD and associated factors in school children and adolescents living in a region of northern Spain. DESIGN: Cross-sectional study (convenience sampling). SETTING: Primary Health Care. PARTICIPANTS: A total of 602 Caucasian individuals (aged 3.1 to 15.4years) were included in the study. MAIN MEASUREMENTS: Prevalence of hypovitaminosisD were calculated (dependent variable). HypovitaminosisD is defined according to the US Endocrine Society criteria: deficiency (calcidiol <20ng/mL), insufficiency (calcidiol: 20-29ng/mL), and sufficiency (calcidiol ≥30ng/mL). Gender, age, body mass index, residence, and season of the year were recorded (independent variables), and their association with hypovitaminosisD was analysed by multiple regression. RESULTS: The prevalence of hypovitaminosisD was 60.4% (insufficiency: 44.6%; deficiency: 15.8%). Multivariate analysis showed that factors associated to hypovitaminosisD were being female (OR: 1.6; 95%CI: 1.1-2.3), pubertal age (OR: 1.8; 95%CI: 1.2-2.6), autumn (OR: 9.5; 95%CI: 4.8-18.7), winter (OR: 8.8; 95%CI: 4.5-17.5) and spring time (OR: 13.2; 95%CI: 6.4-27.5), living in urban areas (OR:1.6; CI95%: 1.1-2.2), and severe obesity (OR: 4.4; 95%CI: 1.9-10.3). CONCLUSIONS: There is a high prevalence of hypovitaminosisD in juvenile populations. being female, pubertal age, autumn, winter and spring seasons, severe obesity, and living in urban areas are factors associated to hypovitaminosisD. Consideration should be given to the administration of vitamin supplements and/or the increase in the ingestion of natural vitaminD dietary sources.

[VITAMIN D DEFICIENCY AMONG CHILDREN AND ADOLESCENTS WITH NORMAL NUTRITIONAL STATUS]. / DEFICIENCIA DE VITAMINA D EN ESCOLARES Y ADOLESCENTES CON UN ESTADO NUTRICIONAL NORMAL.

OBJECTIVE: to analyze the prevalence of vitamin D deficiency throughout a natural year in a pediatric population with normal nutrition status. MATERIAL AND METHODS: cross sectional clinical and analytical study (calcium, phosphorus, alkaline phosphatase, calcidiol and parathyroid hormone) in 413 caucasian individuals (aged 3.1 to 15.4 years): 227 school children (96 males and 131 females) and 186 adolescents (94 males and 92 females), all of them in a normal nutrition status, during the year 2014. Vitamin D deficiency was defined according to the United States Endocrine Society guidelines. RESULTS: calcidiol levels were lower during spring (25.96 ± 6.64 ng/ml) and reached its maximum level in summer (35.33 ± 7.51 ng/ml); PTH levels were lower in summer (27.13 ± 7.89 pg/ml) and reached maximum level in autumn (34.73 ± 15.38 pg/ml). Vitamin D deficiency prevalence was 14.3% in summer and 75.3% in spring. PTH levels were compatible with secondary hyperparathyroidism in 8 individuals (1.9%). There was a negative correlation between calcidol and PTH levels (p < 0.01). There was not a correlation between body mass index (BMI) and calcidiol. CONCLUSION: the pediatric population in normal nutrition status shows a high prevalence of vitamin D deficiency during the months of autumn and winter and, especially, in spring; the addition of vitamin supplements and/ or an increase in the ingestion of their natural dietary sources should be considered.

Objetivo: analizar la prevalencia de la deficiencia de vitamina D a lo largo de un año natural en una población pediátrica con un estado nutricional normal. Material y métodos: estudio transversal clínico y analítico (calcio, fósforo, fosfatasa alcalina, calcidiol y hormona paratiroidea) en 413 sujetos (entre 3,1 y 15,4 años): 227 escolares (96 varones y 131 mujeres) y 186 adolescentes (94 varones y 92 mujeres), de raza caucásica y estado nutricional normal, durante el año 2014. Para definir la deficiencia de vitamina D se han aplicado los criterios de la Sociedad Americana de Endocrinología. Resultados: los niveles de calcidiol eran más bajos en primavera (25,96 ± 6,64 ng/ml) y alcanzaban su máximo nivel en verano (35,33 ± 7,51 ng/ml); mientras que los de PTH eran más bajos en verano (27,13 ± 7,89 pg/ml) y alcanzaban su máximo nivel en otoño (34,73 ± 15,38 pg/ml). La prevalencia de deficiencia de vitamina D era del 14,3% en verano y del 75,3% en primavera. En 8 casos (1,9%) existían cifras de PTH compatibles con hiperparatiroidismo secundario. Existía una correlación negativa entre calcidiol y PTH (p < 0,01). No existía correlación entre IMC y calcidiol. Conclusión: en la población pediátrica con una situacion nutricional normal existe una alta prevalencia de deficiencia de vitamina D en los meses de otoño e invierno y, especialmente, en primavera, y habría que considerar la necesidad de administrar suplementos vitamínicos y/o ingerir mayores cantidades de sus fuentes dietéticas naturales.

Incidence and temporal trends of childhood type 1 diabetes between 1975 and 2012 in Navarre (Spain).

OBJECTIVE: To determine trends in the incidence of type 1 diabetes in Navarre (Spain) between 1975 and 2012 by age and sex. PATIENTS AND METHODS: The study population comprised residents of Navarre under 15 years of age. A Poisson regression model was fitted to analyze changes in the incidence over time, adjusted by year of diagnosis, age group and sex. RESULTS: A total of 494 patients were registered, representing an adjusted incidence rate of 13.2/100,000 person-years. The annual relative increase in the incidence rate was 3.7%. The highest incidence was found in the group aged 10-14 years. The incidence among boys aged 10-14 tended to be higher than that in girls of the same age. CONCLUSIONS: Since the year 2000, the incidence of type 1 diabetes among persons younger than 15 years in Navarre has been very high and has quadrupled over the last four decades.

[Longitudinal study of the evolution (from birth to 8 years of age) of anthropometric variables in a cohort of very low birth weight infants]. / Estudio evolutivo longitudinal (desde el nacimiento hasta los 8 años) de las variables antropométricas en una cohorte de recién nacidos de muy bajo peso.

OBJECTIVE: Descriptive anthropometric survey in a cohort of very low birth weight infants (VLBWI) newborns from birth to age 8 years, analyzing the growth characteristics in these patients. MATERIAL AND METHODS: Retrospective registration of weight and height at birth and age 0.5, 1, 1.5, 2, 3, 4, 6 and 8 years in a cohort of 170 VLBWI (< 1500 g). Patients were separated into appropriate for gestational age (AGA, n=101) and low birth weight or small for gestational age (SGA, n=69) according to the charts from Carrascosa et al. Anthropometric variables were compared with those from a control group. RESULTS: Gestational age was 30.4±3.1 weeks. Weight and height at birth were 1182.1± 228.4 g and 38.2± 3.2 cm, respectively. Weight, height and body mass index in both sexes and every considered age were higher (p<0.05) within the control group with respect to VLBWI (AGA and SGA). At age 2, 81.2% and 71% of AGA and SGA (p<0.05) respectively, presented with normal height. At age 8, the height of 8.95% of AGA and 17.4% of SGA infants did not exceed the 2 SD below the average of the control group. CONCLUSIONS: VLBWI have a catch-up growth which allows the acquisition of normal height in 87.1% and 78.3% of patients in groups AGA and SGA, respectively, at age 4. Only 8.9% of patients in group AGA did not present catch-up growth at age 8, being the possibility of treatment with growing hormone (GH) not included.

Objetivo: Estudio descriptivo antropométrico en una cohorte de recién nacidos de muy bajo peso (RNMBP) desde el nacimiento hasta los 8 años de edad, analizándose las características del crecimiento en estos pacientes. Material y Métodos: Registro retrospectivo del peso y talla al nacimiento y a los 0.5, 1, 1.5, 2, 3, 4, 6 y 8 años de edad de una cohorte de 170 RNMBP (

[Primary trimethylaminuria or fish odor syndrome. A novel mutation in the first documented case in Spain]. / Trimetilaminuria o síndrome del olor a pescado. Nueva mutación génica y primer caso documentado en España.

BACKGROUND AND OBJECTIVE: Trimethylaminuria or fish odor syndrome is a metabolic disorder characterized by a failure in the oxidation route from trimethylamine (TMA) to trimethylamineN-oxide (TMA-O). Primary trimethylaminuria is an inherited autosomic recessive disease due to mutations in the human FMO3 gene. High levels of free TMA in urine and other body fluids confer an unpleasant body odor resembling that of fish. Here we report a case of primary trimethylaminuria in a 4-year-old girl. PATIENT AND METHOD: A 4-year-old girl who presented with a strong corporal scent resembling that of fish from the age of 9 months agreeing with the introduction of fish in the diet. The patient did not have other relevant personal history and had a correct psychomotor and growing development. Liver function, urea and creatinine levels were normal. The biochemical diagnosis was done by spectrometry, measuring the amount of TMA and TMA-O prior to and after fish intake. RESULTS: Genetic analysis evinced that the patient was homozygous for a novel mutation in exon 3, R51G (c. 151A > G). Both parents were heterozygous. CONCLUSIONS: R51G (c. 151 A > G) mutation had not been found in other patients with trimethylaminuria.