Changes induced by recreational and educational activities in children with diabetes

Children with diabetes face numerous daily challenges that are completely different from those of other children their age. Dealing with those issues successfully requires that children with diabetes and their families acquire knowledge and develop skills and attitudes to overcome those challenges through a process of continuous education. Such a process simultaneously promotes the development of healthy behavioral changes and the consequent active and effective participation in the control and treatment of the disease. Therapeutic education should start at diabetes diagnosis and should include the child and family members. Contents, pedagogical methodology, language, and didactic material should adapt to the age and maturity of the child. Psychosocial, cultural, and economic factors should also be considered to achieve the therapeutic and educational goals. In this educational context, residential camps for children and youth with diabetes worldwide16-25 appear to be a suitable education strategy because 1) the teaching-learning process is enhanced by a recreational, motivating, and safe environment; 2) the presence of other children and staff members with diabetes give them the opportunity to be in the majority and not an exception; 3) formal education sessions are accompanied by observation, imitation, practice, and exchange of opinions and experience; 4) group creative and innovative didactic methods are useful to convey and consolidate knowledge, self-management, and problem-solving skills concerned with diabetes control instead of the traditional passive attitude of the unidirectional educational model; and 5) children and their families have the opportunity to integrate and exchange experiences about living with a chronic disease. Evidence in the literature has demonstrated the positive effect of camps for children and youth with diabetes on their specific knowledge, self-management skills, and self-esteem. However, only a few studies have reported their clinical and metabolic benefits in the post-camp period. Therefore, the aim of this study was to evaluate in campers the effect of educational activities on diabetes knowledge, self-management skills, and glycemic control during and after the camp and in family members how the implementation of post-camp activities affects their knowledge about diabetes control and treatment.Centro de Endocrinología Experimental y Aplicad

Changes induced by recreational and educational activities in children with diabetes

Children with diabetes face numerous daily challenges that are completely different from those of other children their age. Dealing with those issues successfully requires that children with diabetes and their families acquire knowledge and develop skills and attitudes to overcome those challenges through a process of continuous education. Such a process simultaneously promotes the development of healthy behavioral changes and the consequent active and effective participation in the control and treatment of the disease.Therapeutic education should start at diabetes diagnosis and should include the child and family members. Residential camps for children and youth with diabetes worldwide appear to be a suitable education strategy because 1) the teaching-learning process is enhanced by a recreational, motivating, and safe environment; 2) the presence of other children and staff members with diabetes give them the opportunity to be in the majority and not an exception; 3) formal education sessions are accompanied by observation, imitation, practice, and exchange of opinions and experience; 4) group creative and innovative didactic methods are useful to convey and consolidate knowledge, self-management, and problem solving skills concerned with diabetes control instead of the traditional passive attitude of the unidirectional educational model,(26–28); and 5) children and their families have the opportunity to integrate and exchange experiences about living with a chronic disease.Fil: Mercuri, Nora. Provincia de Buenos Aires. Gobernación. Comisión de Investigaciones Científicas; ArgentinaFil: Caporale, Joaquín. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico La Plata. Centro de Endocrinología Experimental y Aplicada (i); ArgentinaFil: Moreno, Irma. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Balbi, Viviana. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Rizzuti, Liliana. Centro Bernando A. Houssay Educación Terapéutica en Diabetes; ArgentinaFil: Arrechea, Andrea Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico La Plata. Centro de Endocrinología Experimental y Aplicada (i); ArgentinaFil: Vairetta, Gladys. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico La Plata. Centro de Endocrinología Experimental y Aplicada (i); ArgentinaFil: Gagliardino, Juan Jose. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico La Plata. Centro de Endocrinología Experimental y Aplicada (i); Argentin

Survey design for Spectral Energy Distribution fitting: a Fisher Matrix approach

The spectral energy distribution (SED) of a galaxy contains information on the galaxy's physical properties, and multi-wavelength observations are needed in order to measure these properties via SED fitting. In planning these surveys, optimization of the resources is essential. The Fisher Matrix formalism can be used to quickly determine the best possible experimental setup to achieve the desired constraints on the SED fitting parameters. However, because it relies on the assumption of a Gaussian likelihood function, it is in general less accurate than other slower techniques that reconstruct the probability distribution function (PDF) from the direct comparison between models and data. We compare the uncertainties on SED fitting parameters predicted by the Fisher Matrix to the ones obtained using the more thorough PDF fitting techniques. We use both simulated spectra and real data, and consider a large variety of target galaxies differing in redshift, mass, age, star formation history, dust content, and wavelength coverage. We find that the uncertainties reported by the two methods agree within a factor of two in the vast majority (~ 90%) of cases. If the age determination is uncertain, the top-hat prior in age used in PDF fitting to prevent each galaxy from being older than the Universe needs to be incorporated in the Fisher Matrix, at least approximately, before the two methods can be properly compared. We conclude that the Fisher Matrix is a useful tool for astronomical survey design.Comment: Accepted by ApJ; online Fisher Matrix tool available at http://galfish.physics.rutgers.ed

Mutations in Thyroid Hormone Beta Receptor Gene Identified in Children with Clinical Resistance to Thyroid Hormones

Introduction: Patients with resistance to thyroid hormones(RTH) show different clinical features. Several mutations have been identified in them.Objective:To describe patients followed up since 2006 with RTH suspicion evaluated for mutations in thyroid hormone beta receptor(THRß)gene.Methods:Children were followed up in our Endocrinology Department.Patient 1:10-yr-old boy with elevated T3, T4 and free T4, normal TSH in routine thyroid testing requested for overweight. Patient 2:0.7-yr- old boy with Down syndrome and elevated T3, T4 and free T4, normal TSH.Patient 3:Boy with abnormal results on neonatal screening, with elevated T3, T4, free T4 and TSH.Patient 4:4.7?yr-old girl with elevated T3, T4 and free T4, normal TSH in routine thyroid testing requested for low weight.Patient 5: 1-yr- old boy with elevated T3, T4 and free T4, normal TSH in routine thyroid testing requested for low weight.Patient 6:Boy with congenital hypothyroidism diagnosed by screening with elevated T3, T4, free T4 and TSH.Clinical manifestations:Patients 1, 4 and 5 showed palpitations, tachycardia.Familial antecedents: Patient 3 has two brothers with similar RTH profile. Patient 4 had a sister who died at 3 months of age and mother with confirmed RTH. Patient 6 had an aunt with RTH profile.Thyroid ultrasound. All patients had normal gland size except patient 6 who had an hypoplastic gland. Patient 4 showed goiter at follow up.Treatment:Patient 1 received metimazol; patients 1,4 and 5 beta blockers and patient 6 levothyroxine.Molecular biology analysis: genomic DNA was isolated from blood cells and the exons 7-10 of the THRß gene, including the flanking intronic regions were amplified by PCR. DNA sequences from each amplified fragment were performed with the Taq polymerase-based chain terminator method and using the specific forward and reverse THRß primers. Results.Direct sequence analysis revealed a novel missense mutation in exon 10 in patient 3, c.1329G>T transvertion that results in a p.K443N substitution and two known missense mutations: c.1357C>A, p.P453T (Patient 1)in exon 10 and c.949G>A, p.A317T (Patient 4) in exon 9.Conclusion:THRß gene mutations were found in half of the patients with RTH, including a new mutation.Although goiter is a common feature in RTH, only one patient presented it.These findings support the importance of searching THRßgene mutations in suspected individuals to achieve an adequate follow-up and treatment in patients with RHT.Fil: Gonzáles, Viviana. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Balbi, Viviana A.. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Morin, Analía. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Reinoso, Andrea. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Vitale, Laura. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Ricci, Jaime. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Espósito, Mariela. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Martín, Rodrigo. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Tournier, Andrea L.. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Adrover, Ezequiela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaFil: Molina, Maricel Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaFil: Targovnik, Hector Manuel. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaFil: Rivolta, Carina Marcela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología; ArgentinaXXVIII Congreso Latinoamericano de Endocrinología PediátricaFlorianópolisBrasilSociedad Latinoamericana de Endocrinología Pediátric

Thyroid hormone synthesis continues despite biallelic thyroglobulin mutation with cell death

Complete absence of thyroid hormone is incompatible with life in vertebrates. Thyroxine is synthesized within thyroid follicles upon iodination of thyroglobulin conveyed from the endoplasmic reticulum (ER), via the Golgi complex, to the extracellular follicular lumen. In congenital hypothyroidism from biallelic thyroglobulin mutation, thyroglobulin is misfolded and cannot advance from the ER, eliminating its secretion and triggering ER stress. Nevertheless, untreated patients somehow continue to synthesize sufficient thyroxine to yield measurable serum levels that sustain life. Here, we demonstrate that TGW2346R/W2346R humans, TGcog/cog mice, and TGrdw/rdw rats exhibited no detectable ER export of thyroglobulin, accompanied by severe thyroidal ER stress and thyroid cell death. Nevertheless, thyroxine was synthesized, and brief treatment of TGrdw/rdw rats with antithyroid drug was lethal to the animals. When untreated, remarkably, thyroxine was synthesized on the mutant thyroglobulin protein, delivered via dead thyrocytes that decompose within the follicle lumen, where they were iodinated and cannibalized by surrounding live thyrocytes. As the animals continued to grow goiters, circulating thyroxine increased. However, when TGrdw/rdw rats age, they cannot sustain goiter growth that provided the dying cells needed for ongoing thyroxine synthesis, resulting in profound hypothyroidism. These results establish a disease mechanism wherein dead thyrocytes support organismal survival.Fil: Zhang, Xiaohan. University of Michigan; Estados UnidosFil: Kellogg, Aaron P.. University of Michigan; Estados UnidosFil: Citterio, Cintia Eliana. University of Michigan; Estados Unidos. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; ArgentinaFil: Zhang, Hao. University of Michigan; Estados UnidosFil: Larkin, Dennis. University of Michigan; Estados UnidosFil: Morishita, Yoshiaki. University of Michigan; Estados UnidosFil: Targovnik, Hector Manuel. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica. Departamento de Microbiología, Inmunología y Biotecnología. Cátedra de Genética y Biología Molecular; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Inmunología, Genética y Metabolismo; ArgentinaFil: Balbi, Viviana A.. Provincia de Buenos Aires. Ministerio de Salud. Hospital de Niños "Sor María Ludovica" de La Plata; ArgentinaFil: Arvan, Peter. University of Michigan; Estados Unido

Talleres educativos dirigidos a niños con diabetes tipo 1

Introducción: La educación terapéutica es un proceso continuo y esencial para los niños con diabetes. Muy importante para lograr un rol activo en el tratamiento de la enfermedad. Razón por la cual desarrollamos talleres educativos para los niños del HIAPE Superiora Sor María Ludovica de La Plata. Objetivo: Evaluar conocimientos, habilidades, HbA1C pre y post intervención. Material y Métodos: Se desarrollaron dos talleres de dos horas y media de duración cada uno, uno en un mes y el otro en el mes siguiente de agosto a noviembre inclusive de 2014.Los contenidos se abordados mediante juegos educativos: actividad física, insulinoterapia, importancia del control metabólico (hipoglucemia, hiperglucemia, variabilidad), identificación de nutrientes (selección y conteo de carbohidratos).La evaluación de estos temas fue a través de cuestionarios autoadministrados y la observación de la presencia de habilidades. Resultados: Se evaluaron 30 niños, todos con tratamiento intensificado. Encontrando diferencias significativas en conocimientos pre 13,20 ± 3,18 post 15,87 ± 2,85 (P 0,001) y la habilidad de rotar los sitios de inyección más de 4 pre 16,67 post 76,67 (P 0,009). No hubo diferencia significativa en la HbA1c de inicio y fin. Conclusión: Se requerirán intervenciones más frecuentes para poder potenciar y reforzar los beneficios obtenidos.Mesa 7. Educación física y salud.Facultad de Humanidades y Ciencias de la Educació

Talleres educativos dirigidos a niños con diabetes tipo 1

Introducción: La educación terapéutica es un proceso continuo y esencial para los niños con diabetes. Muy importante para lograr un rol activo en el tratamiento de la enfermedad. Razón por la cual desarrollamos talleres educativos para los niños del HIAPE Superiora Sor María Ludovica de La Plata. Objetivo: Evaluar conocimientos, habilidades, HbA1C pre y post intervención. Material y Métodos: Se desarrollaron dos talleres de dos horas y media de duración cada uno, uno en un mes y el otro en el mes siguiente de agosto a noviembre inclusive de 2014.Los contenidos se abordados mediante juegos educativos: actividad física, insulinoterapia, importancia del control metabólico (hipoglucemia, hiperglucemia, variabilidad), identificación de nutrientes (selección y conteo de carbohidratos).La evaluación de estos temas fue a través de cuestionarios autoadministrados y la observación de la presencia de habilidades. Resultados: Se evaluaron 30 niños, todos con tratamiento intensificado. Encontrando diferencias significativas en conocimientos pre 13,20 ± 3,18 post 15,87 ± 2,85 (P 0,001) y la habilidad de rotar los sitios de inyección más de 4 pre 16,67 post 76,67 (P 0,009). No hubo diferencia significativa en la HbA1c de inicio y fin. Conclusión: Se requerirán intervenciones más frecuentes para poder potenciar y reforzar los beneficios obtenidos.Mesa 7. Educación física y salud.Facultad de Humanidades y Ciencias de la Educació

Calidad de la dieta y su relación con estados de estrés, ansiedad y depresión en estudiantes universitarios

Objetivo: Evaluar la asociación entre calidad de la alimentación y nivel de estrés, ansiedad y depresión en universitarios

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism

Thyroid dyshormonogenesis due to thyroglobulin (TG) gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from euthyroid to mild or severe hypothyroidism. Up to now, one hundred seventeen deleterious mutations in the TG gene have been identified and characterized. The purpose of the present study was to identify and characterize new mutations in the TG gene. We report eight patients from seven unrelated families with goiter, hypothyroidism and low levels of serum TG. All patients underwent clinical, biochemical and image evaluation. Sequencing of DNA, genotyping, as well as bioinformatics analysis were performed. Molecular analyses revealed three novel inactivating TG mutations: c.5560G>T [p.E1835*], c.7084G>C [p.A2343P] and c.7093T>C [p.W2346R], and four previously reported mutations: c.378C>A [p.Y107*], c.886C>T [p.R277*], c.1351C>T [p.R432*] and c.7007G>A [p.R2317Q]. Two patients carried homozygous mutations (p.R277*/p.R277*, p.W2346R/p.W2346R), four were compound heterozygous mutations (p.Y107*/p.R277* (two unrelated patients), p.R432*/p.A2343P, p.Y107*/p.R2317Q) and two siblings from another family had a single p.E1835* mutated allele. Additionally, we include the analysis of 48 patients from 31 unrelated families with TG mutations identified in our present and previous studies. Our observation shows that mutations in both TG alleles were found in 27 families (9 as homozygote and 18 as heterozygote compound), whereas in the remaining four families only one mutated allele was detected. The majority of the detected mutations occur in exons 4, 7, 38 and 40. 28 different mutations were identified, 33 of the 96 TG alleles encoded the change p.R277*. In conclusion, our results confirm the genetic heterogeneity of TG defects and the pathophysiological importance of the predicted TG misfolding and therefore thyroid hormone formation as a consequence of truncated TG proteins and/or missense mutations located within its ACHE-like domain.This study was funded by grants from the FONCyT-ANPCyT-MINCyT (PICT 2014-1193 to CMR, PICT 2012-1090 and PICT 2015–1811 to HMT), CONICET (PIP 2015-11220150100499 to CMR) and Universidad de Buenos Aires (UBACyT 2016-20020150100099BA to CMR)

Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis

[Purpose]: Primary congenital hypothyroidism (CH) is the most common endocrine disease in children and one of the preventable causes of both cognitive and motor deficits. We present a genetic and bioinformatics investigation of rational clinical design in 17 Argentine patients suspected of CH due to thyroid dyshormonogenesis (TDH). [Methods]: Next-Generation Sequencing approach was used to identify variants in Thyroid Peroxidase (TPO) and Dual Oxidase 2 (DUOX2) genes. A custom panel targeting 7 genes associated with TDH [(TPO), Iodothyrosine Deiodinase I (IYD), Solute Carrier Family 26 Member 4 (SLC26A4), Thyroglobulin (TG), DUOX2, Dual Oxidase Maturation Factor 2 (DUOXA2), Solute Carrier Family 5 Member 5 (SLC5A5)] and 4 associated with thyroid dysembryogenesis [PAX8, FOXE1, NKX2-1, Thyroid Stimulating Hormone Receptor (TSHR)] has been designed. Additionally, bioinformatic analysis and structural modeling were carried out to predict the disease-causing potential variants. [Results]: Four novel variants have been identified, two in TPO: c.2749-2 A > C and c.2752_2753delAG, [p.Ser918Cysfs*62] and two variants in DUOX2 gene: c.425 C > G [p.Pro142Arg] and c.2695delC [p.Gln899Serfs*21]. Eighteen identified TPO, DUOX2 and IYD variants were previously described. We identified potentially pahogenic biallelic variants in TPO and DUOX2 in 7 and 2 patients, respectively. We also detected a potentially pathogenic monoallelic variant in TPO and DUOX2 in 7 and 1 patients respectively. [Conclusions]: 22 variants have been identified associated with TDH. All described novel mutations occur in domains important for protein structure and function, predicting the TDH phenotype.This study was funded by grants from the Fondo para la Investigación Científica y Tecnológica (FONCyT-ANPCyT-MINCyT, PICT 2014-1193 to CMR, PICT 2015-1811 and PICT-2018-02146 to H.M.T.), CONICET (PIP 2015-11220150100499 to C.M.R.), Universidad de Buenos Aires (UBACyT 2016-20020150100099BA and 2020-20020190100050BA to C.M.R.) and Fondo de Investigación Sanitaria/FEDER (PI16/01920 and PI20/01589 to R.G.-S.)