Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review

The purpose of this paper was to systematically summarize the published literature on neonatal isolated hyperthyrotropinemia (HTT), with a focus on prevalence, L-T4 management, re-evaluation of thyroid function during infancy or childhood, etiology including genetic variation, thyroid imaging tests, and developmental outcome. Electronic and manual searches were conducted for relevant publications, and a total of 46 articles were included in this systematic review. The overall prevalence of neonatal HTT was estimated at 0.06%. The occurrence of abnormal imaging tests was found to be higher in the persistent than in the transient condition. A continuous spectrum of thyroid impairment severity can occur because of genetic factors, environmental factors, or a combination of the two. Excessive or insufficient iodine levels were found in 46% and 16% of infants, respectively. Thirty-five different genetic variants have been found in three genes in 37 patients with neonatal HTT of different ethnic backgrounds extracted from studies with variable design. In general, genetic variants reported in the TSHR gene, the most auspicious candidate gene for HTT, may explain the phenotype of the patients. Many practitioners elect to treat infants with HTT to prevent any possible adverse developmental effects. Most patients with thyroid abnormalities and/or carrying monoallelic or biallelic genetic variants have received L-T4 treatment. For all those neonates on treatment with L-T4, it is essential to ensure follow-up until 2 or 3 years of age and to conduct medically supervised trial-off therapy when warranted. TSH levels were found to be elevated following cessation of therapy in 44% of children. Withdrawal of treatment was judged as unsuccessful, and medication was restarted, in 78% of cases. Finally, data extracted from nine studies showed that none of the 94 included patients proved to have a poor developmental outcome (0/94). Among subjects presenting with normal cognitive performance, 82% of cases have received L-T4 therapy. Until now, the precise neurodevelopmental risks posed by mild disease remain uncertain.Fil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Tellechea, Mariana Lorena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentin

Primary thyroglossal duct carcinoma with lateral neck metastasis in an adolescent girl

Thyroglossal duct cysts are the most common thyroid developmental anomalies accounting for 75% of midline neck tumors in children. Carcinomas arising fromthis remnant are very rare in adults and even scarcer in pediatrics. Preoperative diagnosis is a challenge and appropriate treatment is controversial. We report the caseof a 13-year-old adolescent girl with a growing midline neck mass suspicious for a thyroglossal duct cyst who underwent a Sistrunk procedure. Histologic analysisrevealed the presence of a papillary carcinoma in the wall. She completed treatment with total thyroidectomy and radioactive iodine. Postablative whole body scanshowed an inferior neck metastasis. We discuss previous pediatric cases of this entity and the different options in the management strategy.Fil: Papendieck, Patricia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Gruñeiro Papendieck, Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentin

Parenting styles and coping strategies in PKU early detected children

Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity. We hypothesize that chronic intervention may influence the parents and child bonding and the child´s resources to face problems. To describe the PKU parenting styles perceived by the children (PS) and their coping strategies (CS) assessing their relationship with impulsivity, 30 early diagnosed and adequately treated PKU children and 30 non PKU aged-paired controls (CG) were compared. The Argentine Children´s Coping Questionnaire, Argentine Scale Perception of the Relationship with Parents, WISC IV Comprehension Subtest, and CPT II test were administered. PKU PS were based on control: strict to pathologic in the mother and acceptable in the father (both p<0.05 vs. CG). Children significantly sought greater support and showed less emotional control when facing conflicts. These characteristics positively correlated with maternal control r:.383 and r:.398 (both p<0.05). Impulsivity was higher in PKU (p<0.05) but didn´t associate with PS or CS. Maternal strict control wasn´t linked to the higher impulsivity found (possibly neurobiologically based). Nevertheless, if both factors are present, patients may develop a psychological and/or behavioral trait of greater dependency and impulsivity that must be considered in their follow-up.Fil: Pardo Campos, Maria Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires". Facultad de Psicología y Psicopedagogía; ArgentinaFil: Enacan, Rosa. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Valle, Maria G.. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentin

Parenting styles and coping strategies among patients with early detected and treated congenital hypothyroidism

Congenital hypothyroidism (CH), as any chronic disease, has an impact on the parent-child relationship and on the child’s resources to cope with conflicting situations. Objectives. To describe parenting styles according to the perception of children with CH and their coping strategies. Population and methods. Children aged 9-10 years who had CH detected by newborn screening and had received adequate treatment and a group without CH (control group). The Argentine Coping Questionnaire, the Argentine Scale for the Perception of Parent Relations, and the comprehension subtest of the Wechsler Intelligence Scale for Children III (WISC III) were used. Results were compared using a multivariate analysis of variance (MANOVA). Results. Sixty children with CH were included; they perceived that their mothers exercised a strict control and that their fathers showed more acceptance. They sought more support and became paralyzed more often in conflicting situations than the 60 children without CH. Conclusion. These findings may be associated with a higher level of dependence. They should be taken into consideration in CH care.Fil: Pardo Campos, Maria Laura. Pontificia Universidad Católica Argentina "Santa María de los Buenos Aires"; ArgentinaFil: Musso, Mariel Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Saavedra 15. Centro Interdisciplinario de Investigaciones en Psicología Matemática y Experimental Dr. Horacio J. A. Rimoldi; Argentina. Universidad Argentina de la Empresa; ArgentinaFil: Keselman, Ana Claudia. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; ArgentinaFil: Gruñeiro Papendieck, Laura. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; ArgentinaFil: Bergadá, Ignacio. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutiérrez"; Argentin

Effects of chronic forced circadian desynchronization on body weight and metabolism in male mice

Metabolic functions are synchronized by the circadian clock setting daily patterns of food intake, nutrient delivery, and behavioral activity. Here, we study the impact of chronic jet-lag (CJL) on metabolism, and test manipulations aimed to overcome potential alterations. We recorded weight gain in C57Bl/6 mice under chronic 6 h advances or delays of the light-dark cycle every 2 days (ChrA and ChrD, respectively). We have previously reported ChrA, but not ChrD, to induce forced desynchronization of locomotor activity rhythms in mice (Casiraghi et al. ). Body weight was rapidly increased under ChrA, with animals tripling the mean weight gain observed in controls by day 10, and doubling it by day 30 (6% vs. 2%, and 15% vs. 7%, respectively). Significant increases in retroperitoneal and epidydimal adipose tissue masses (172% and 61%, respectively), adipocytes size (28%), and circulating triglycerides (39%) were also detected. Daily patterns of food and water intake were abolished under ChrA. In contrast, ChrD had no effect on body weight. Wheel-running, housing of animals in groups, and restriction of food availability to hours of darkness prevented abnormal increase in body weight under ChrA. Our findings suggest that the observed alterations under ChrA may arise either from a direct effect of circadian disruption on metabolism, from desynchronization between feeding and metabolic rhythms, or both. Direction of shifts, timing of feeding episodes, and other reinforcing signals deeply affect the outcome of metabolic function under CJL. Such features should be taken into account in further studies of shift working schedules in humans.Instituto Multidisciplinario de Biología Celula

A Survey on One Health Approach in Colombia and Some Latin American Countries: From a Fragmented Health Organization to an Integrated Health Response to Global Challenges

The “One Health” (OH) approach has been recognized by world health authorities such as FAO/OIE/WHO, advocating for effective, multi-sectoral, and transdisciplinary collaboration. However, there is a lack of published evidence of the awareness of the OH concept in Colombia and other countries in the Latin American Region. In order to explore existing collaboration amongst the animal health, human-public health, environmental health sectors, and to describe the perception, knowledge, and barriers on OH in Colombia and other countries of Latin America, an online questionnaire-based survey was distributed among key professionals representing the three OH pillars (August 2018–August 2020). Overall, 76 key respondents from 13 countries (Colombia, México, Chile, Brazil, Argentina, Bolivia, Costa Rica, Ecuador, Perú, Guatemala, Nicaragua Uruguay, and Venezuela) completed the questionnaire. Respondents worked in institutions of animal (59%), public (20%), human (7%), and environmental health (7%); they mainly belonged to higher academic institutions (59%), followed by ministries (11%), and research organizations (9%). Most participants (92%) were familiar with the OH term and 68% were aware of the formal cooperation among sectors in their countries, mostly on zoonoses; in 46% of the cases, such connections were established in the last 5 years. The main reported limiting factors to intersectorality were the lack of commitment of policy-makers, resources, and budget for OH (38%) and the “siloed approach” of sectors and disciplines (34%). Respondents ranked a median score of 3.0 (1–5 scoring) in how good OH activities are implemented in their countries, and a median score of 2.0 in the citizen awareness on OH as regards their countries. The most important OH issues were identified in vector-borne diseases, rabies, wrong and/or improper use of antimicrobials, emerging viral diseases, food-borne diseases, neglected parasitic diseases, deforestation, and ecosystem fragmentation. Although there is a high-perceived importance on conjoint cooperation, OH implementation, and operationalization remain weak, and the environmental component is not well-integrated. We consider that integration and implementation of the OH Approach can support countries to improve their health policies and health governance as well as to advocate the social, economic, and environmental sustainability of the Region

Antithyroid arthritis syndrome in a pediatric patient with Graves disease: A case Report

Las drogas antitiroideas (DAT) constituyen el tratamiento de primera línea en niños y adolescentes con Enfermedad de Graves (EG). Existe una multiplicidad de efectos adversos asociados al tratamiento farmacológico de esta patología, afortunadamente la gran mayoría poco frecuentes. De los efectos indeseados del tratamiento, la presencia de artritis constituye una rareza donde la disquisición entre la presencia de artralgias por el estado hipertiroideo, por otro trastorno autoinmune asociado a la EG o por el uso de DAT puede resultar un desafío para la continuidad del tratamiento.Se describe el cuadro clínico de una niña de 12 años con EG tratada con DAT (metimazol) que presentó poliartritis migratoria a los 20 días del inicio del tratamiento y posteriormente, tras la terapéutica definitiva del hipertiroidismo con I131, un síndrome miopático con elevación extrema de enzimas musculares requiriendo internación en cada una de estas circunstancias.Antithyroid drugs (ATD) represent the first choice of treatment in children and adolescents with Graves’ disease (GD). There is a multiplicity of pharmacologic treatment-linked side effects, most of which are rarely observed. Overall, arthritis is infrequent and the diagnostic disquisition between arthralgia associated with the hyperthyroid state, another autoimmune disorder linked to GD or to the use of ATD may result challenging to the endocrinologist.We report the case of a 12-year-old girl with GD treated with ATD (methimazole) who developed migratory polyarthritis 20 days after starting treatment and then, once definitive hyperthyroidism treatment with I131 was established, she suffered from a myopathic syndrome associated with extremely high muscular enzymes levels requiring hospitalization in both circumstances.Fil: Castro, Sebastian. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Papendieck, Patricia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; ArgentinaFil: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentin

A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process: Cell expression and bioinformatic analysis

Thyroglobulin (TG) is a homodimeric glycoprotein synthesized by the thyroid gland. To date, two hundred twenty-seven variations of the TG gene have been identified in humans. Thyroid dyshormonogenesis due to 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. The purpose of the present study was to identify and characterize new variants in the TG gene. We report an Argentine patient with congenital hypothyroidism, enlarged thyroid gland and low levels of serum TG. Sequencing of DNA, expression of chimeric minigenes as well as bioinformatics analysis were performed. DNA sequencing identified the presence of compound heterozygous mutations in the TG gene: the maternal mutation consists of a c.3001+5G > A, whereas the paternal mutation consists of p.Arg296*. Minigen analysis of the variant c.3001+5A performed in HeLa, CV1 and Hek293T cell lines, showed a total lack of transcript expression. So, in order to validate that the loss of expression was caused by such variation, site-directed mutagenesis was performed on the mutated clone, which previously had a pSPL3 vector change, to give rise to a wild-type clone c.3001+5G, endorsing that the mutation c.3001+5G > A is the cause of the total lack of expression. In conclusion, we demonstrate that the c.3001+5G > A mutation causes a rare genotype, altering the splicing of the pre-mRNA. This work contributes to elucidating the molecular bases of TG defects associated with congenital hypothyroidism and expands our knowledge in relation to the pathologic roles of the position 5 in the donor splice site.Fil: Gomes Pio, Mauricio. 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 Medicina. Hospital de Clínicas General San Martín; 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 Medicina. Hospital de Clínicas General San Martín; ArgentinaFil: Siffo, Sofía. Universidad de Buenos Aires. Facultad de Medicina. Hospital de Clínicas General San Martín; 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: Chiesa, Ana Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; 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 Medicina. Hospital de Clínicas General San Martín; 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 Medicina. Hospital de Clínicas General San Martín; Argentin

Colonialismo en las relaciones entre trabajadores y usuarios durante las prácticas de atención: implicaciones para la integralidad de la atención

OBJECTIVE:To report on the relationships between the workers and service users and the implications of these for continuity of care. METHODS:Qualitative research, undertaken based on a case study, between February and July 2012. The subjects were health workers and the users of a Family Health Unit(FHU). Participant observation, interviews and document and record searches were made.RESULTS:Instances were evidenced in which the team generalizes the service users, which disregards their uniqueness; this dismisses the service user, revealing the fragility of the comprehensiveness of the care. CONCLUSION:There are implications of colonialist relationships which consider the service users as objects, affecting the continuity of the care. The nurses' participation in the processwas revealed, emphasizing the need to deepen reflection in regard to professional practice.OBJETIVO:Relatar las relaciones entre trabajadores y usuarios y sus implicaciones para la continuidad de la atención.MÉTODOS:Es una investigación cualitativa, desarrollada a partir de un estudio de caso, de Febrero a Julio de 2012. Los sujetos fueron trabajadores de salud y usuarios de una Unidad Salud de la Familia. Se realizó la observación participante, entrevistas y búsquedas en documentos y registros.RESULTADOS:Fueron evidenciados momentos donde los usuarios son generalizados por el equipo, que desconsidera su singularidad; descalifica el usuario, revelando fragilidad de la atención integral.CONCLUSIÓN:Hay implicaciones de las relaciones coloniales que consideran usuarios como objetos, afectando la continuidad de la atención. Fue revelado la participación de enfermeros en este proceso, reforzando la necesidad de mayor reflexión sobre la práctica profesional.Este estudo objetivou relatar as relações entre trabalhadores e usuários e suas implicações para a continuidade do cuidado.MÉTODOS:Trata-se de uma pesquisa qualitativa, desenvolvida a partir de um estudo de caso, de fevereiro a julho de 2012. Os sujeitos foram trabalhadores de saúde e usuários de uma Unidade de Saúde da Família. Realizaram-se observação participante, entrevistas e buscas em documentos e registros.RESULTADOS:Evidenciaram-se momentos em que os usuários são generalizados pela equipe, que desconsidera sua singularidade; isso desqualifica o usuário, revelando a fragilidade da integralidade da atenção.CONCLUSÃO:Há implicações das relações colonialistas que consideram usuários como objetos, afetando a continuidade do cuidado. Descortinou-se a participação de enfermeiros neste processo, reforçando a necessidade de se aprofundar a reflexão acerca da prática profissional.Universidade Federal de Santa MariaUniversidade Federal de São Paulo (UNIFESP)UNIFESPSciEL