Caracterización clínica de pacientes chilenos con displasia fibrosa/síndrome de McCune-Albright / Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome

BACKGROUND: Fibrous Dysplasia/McCune-Albright Syndrome (FD/MAS) is characterized by a spectrum of manifestations that may include fibrous dysplasia of bone and multiple endocrinopathies. AIM: To describe the clinical spectrum, the study and follow-up of patients with FD/MAS cared at our institution. MATERIAL AND METHODS: Review of medical records of 12 pediatric and adult patients (11 women) who met the clinical and genetic diagnostic criteria for FD/ MAS. RESULTS: The patients' mean age at diagnosis was 4.9 ± 5.5 years. The most common initial clinical manifestation was peripheral precocious puberty (PPP) in 67% of patients and 75% had café-au-lait spots. Fibrous dysplasia was present in 75% of patients and the mean age at diagnosis was 7.9 ± 4.7 years. Ten patients had a bone scintigraphy, with an age at the first examination that varied between 2 and 38 years of age. The most frequent location of dysplasia was craniofacial and appendicular. No patient had a recorded history of cholestasis, hepatitis, or pancreatitis. In four patients, a genetic study was performed that was positive for the pathogenic variant of guanine nucleotide binding protein, alpha stimulating (GNAS). CONCLUSIONS: These patients demonstrate the variable nature of the clinical presentation and study of FD/MAS. It is essential to increase the index of diagnostic suspicion and adherence to international recommendations.

Asociación entre eventos adversos en el cuidado de enfermería, cultura de seguridad y complejidad de pacientes en un hospital chileno

RESUMEN Objetivo: Determinar asociación entre cultura de seguridad, complejidad de pacientes e incidencia de eventos adversos (EA) asociados al cuidado de enfermería en un hospital chileno de alta complejidad. Material y Método: Estudio transversal, cuantitativo, analítico y diseño ecológico, que en 869 reportes midió los EA ocurridos entre 2014 y 2017. Se midió la cultura de seguridad con el total de enfermeros/as (95) a través del Cuestionario sobre Seguridad de los Pacientes, versión española adaptada de Hospital Survey on Patient Safety Culture, encuesta original de la Agency for Healthcare Research and Quality (AHRQ), de los Estados Unidos; la complejidad del paciente se midió según datos del Grupo Relacionado de Diagnósticos (GRD). El análisis consideró estadística descriptiva y correlaciones de Spearman y regresiones logísticas entre incidencia de EA ajustada a complejidad y cultura de seguridad. Resultados: La media de la percepción de seguridad global fue de 7,69 puntos; las dimensiones 4 (aprendizaje organizacional/mejora continua) y 5 (trabajo en equipo en la unidad/servicio) son consideradas fortalezas; la dimensión 9 (dotación de personal) una oportunidad de mejora; los servicios de mayor complejidad presentan mayor incidencia de EA y mayor cultura de seguridad; existe asociación lineal entre incidencia de EA ajustada a complejidad y clima de seguridad global (coeficiente beta=-5,11; p valor 0,004; IC 1,65-8,5). Conclusiones: Se confirma la asociación entre eventos adversos con cultura de seguridad y complejidad del cuidado. La mayor incidencia de EA se debe al mayor número de reportes y no a su mayor ocurrencia. Las instituciones de salud deben promover estrategias que incrementen el nivel de cultura de seguridad para mejorar los cuidados de enfermería y la calidad en salud.

ABSTRACT Objective: To determine the association between safety culture, the degree of complexity of the patients and the incidence of adverse events associated with nursing care in a Chilean hospital. Method: Cross-seccional study, with a quantitative approach, analytical and ecological design, which in 869 reports measured AE that occurred between 2014 - 2017. Safety culture was measured with the total number of nurses (95) through the Patient Safety Questionnaire, a Spanish version adapted from the Hospital Survey on Patient Safety Culture, an original survey from the Agency for Healthcare Research and Quality (AHRQ), from the United States; the complexity of the patient was measured according to data from the Related Group of Diagnoses (DRG). The analysis considered descriptive statistics and Spearman correlations and logistic regressions between AD incidence adjusted for complexity and safety culture. Results: The mean global security perception was 7.69 points; Dimensions 4 (organizational learning / continuous improvement) and 5 (teamwork in the unit / service) are considered strengths; dimension 9 (staffing) with opportunity for improvement; more complex services have a higher incidence of AE and a higher safety culture; There is a linear association between the incidence of AD adjusted to complexity and the global security climate (beta coefficient = -5.11; p value 0.004; CI 1.65 and 8.5). Conclusions: The association between quality culture, complexity of care and adverse events is confirmed. The higher incidence of AE is due to the greater number of reports and not to its greater occurrence. Health institutions must promote and implement strategies to increase the safety culture level in nursing personnel to improve the delivery of quality care in health.

RESUMO Objetivo: Determinar a associação entre cultura de segurança, complexidade do paciente e incidência de eventos adversos (EA) associados à assistência de enfermagem em um hospital chileno de alta complexidade. Material e Método: Estudo transversal, quantitativo, analítico e de desenho ecológico, que em 869 relatórios mediu EA ocorridos entre 2014-2017. A cultura de segurança foi medida com todos os enfermeiros (95) por meio do Questionnaire, versão em espanhol adaptada do Hospital Survey on Patient Safety Culture, pesquisa original da Agência dos Estados Unidos para Pesquisa e Qualidade em Saúde (AHRQ), a complexidade do paciente foi medida de acordo com dados do Related Group of Diagnoses (DRG). A análise considerou estatísticas descritivas e correlações de Spearman e regressões logísticas entre a incidência de DA ajustada para complexidade e cultura de segurança. Resultados: A percepção de segurança global média foi de 7,69 pontos; As dimensões 4 (aprendizagem organizacional / melhoria contínua) e 5 (trabalho em equipe na unidade / serviço) são consideradas pontos fortes; dimensão 9 (pessoal) com oportunidade de melhoria; serviços mais complexos apresentam maior incidência de EA e maior cultura de segurança; Existe uma associação linear entre a incidência de DA ajustada à complexidade e clima de segurança global (coeficiente beta = -5,11; valor de p 0,004; IC 1.65 e 8.5). Conclusões: Confirma-se a associação entre cultura de qualidade, complexidade do atendimento e eventos adversos. A maior incidência de EA se deve ao maior número de notificações e não à sua maior ocorrência. As instituições de saúde devem promover e implementar estratégias que aumentem o nível de cultura de segurança no pessoal de enfermagem para melhorar a prestação de cuidados e a qualidade em saúde.

Hijos de madres con enfermedad de Basedow Graves / Newborn of mothers with Graves' disease

Resumen: Introducción: La causa más frecuente de hipertiroidismo congénito es la enfermedad de Basedow Graves (EG) materna, en la que anticuerpos anti receptor de hormona tiroestimulante (TSH) (TRAb) atraviesan la placenta estimulando al receptor de TSH fetal y/o neonatal para producir hormonas ti roideas. La disfunción tiroidea en estos pacientes se confirma con el aumento de las concentraciones de tiroxina (T4) y triyodotironina (T3) acompañado de niveles de TSH suprimida. Objetivos: Carac terizar la evolución clínica y bioquímica de los recién nacidos (RN) hijos de madres con EG, y sugerir recomendaciones respecto al tratamiento y seguimiento. Material y Método: Se realizó una revisión de la literatura usando la base de datos MEDLINE, identificando artículos que incluyeran más de 30 RN de madres con EG y describieran su evolución. Se agregaron además revisiones del tema enfati zando la evaluación y manejo de los hijos de madres con EG. Resultados: Se incluyeron 9 estudios de cohorte que incorporaron 790 embarazadas. Hubo heterogeneidad entre los trabajos; un porcentaje variable de los hijos desarrolló tirotoxicosis neonatal, la que fue más frecuente cuando las madres presentaron concentraciones elevadas de TRAb. El tratamiento de los RN se inició según diferentes criterios. La literatura recomienda tratar los casos de hipertiroidismo clínico y considerarlo en casos de hipertiroidismo bioquímico. Conclusión: Los hijos de madres con EG y TRAb elevados deben ser evaluados por la probabilidad de desarrollar tirotoxicosis neonatal. Se sugiere controlar función tiroidea periódicamente durante el primer mes de vida y tratar los pacientes con hipertiroidismo clínico y bioquímico.

Abstract: Introduction: The most frequent cause of congenital hyperthyroidism is maternal Graves' disease (GD), in which thyroid stimulating hormone (TSH) receptor antibodies (TRAb) cross the placenta and stimulate the fetal and/or neonatal TSH receptor to produce thyroid hormones. Thyroid dys function in these patients is confirmed by increased thyroxine (T4) and triiodothyronine (T3) levels accompanied by suppressed TSH levels. Objective: To characterize the clinical and biochemical evo lution of newborns of mothers with GD and to suggest recommendations regarding treatment and follow-up. Material and Method: A literature review using the MEDLINE database was made, iden tifying scientific articles that included more than 30 neonates of mothers with GD and described their evolution. In addition, a review of the topic with an emphasis on the evaluation and management of these patients was included. Results: Nine cohort studies were included, with a total of 790 pregnant women. There was high heterogeneity among the studies. A variable percentage of newborns deve loped neonatal thyrotoxicosis, which was more frequent in those patients whose mothers had high levels of TRAb. The treatment of newborns was initiated according to different criteria. The literature recommends treating cases of clinical hyperthyroidism and considers it in cases of biochemical hy perthyroidism. Conclusion: Children of mothers with GD and high TRAb should be evaluated due to the likelihood of developing neonatal thyrotoxicosis. It is suggested to monitor thyroid function periodically during the first month of life and treat patients with clinical and biochemical hyper thyroidism.

Estudio y manejo de nódulos tiroideos por médicos no especialistas. Consenso SOCHED / Study and management of thyroid nodes by non specialist physicians: SOCHED consensus

The thyroid nodule is a frequent cause of primary care consultation. The prevalence of a palpable thyroid nodule is approximately 4-7%, increasing up to 67% by the incidental detection of nodules on ultrasound. The vast majority are benign and asymptomatic, staying stable over time. The clinical importance of studying a thyroid nodule is to exclude thyroid cancer, which occurs in 5 to 10% of the nodules. The Board of SOCHED (Chilean Society of Endocrinology and Diabetes) asked the Thyroid Study Group to develop a consensus regarding the diagnostic management of the thyroid nodule in Chile, aimed at non-specialist physicians and adapted to the national reality. To this end, a multidisciplinary group of 31 experts was established among university academics, active researchers with publications on the subject and prominent members of scientific societies of endocrinology, head and neck surgery, pathology and radiology. A total of 14 questions were developed with key aspects for the diagnosis and subsequent referral of patients with thyroid nodules, which were addressed by the participants. In those areas where the evidence was insufficient or the national reality had to be considered, the consensus opinion of the experts was used through the Delphi methodology. The consensus was approved by the SOCHED board for publication.

La razón cintura estatura en escolares no varía con el género, la edad ni la maduración puberal / Waist-to-height ratio does not change with gender, age and pubertal stage in elementary school children

Background: Waist-to-height ratio (WHtR) is a cardiometabolic risk indicator in children. A value greater than or equal to 0.55 is an effective screening tool for identifying obese children with metabolic syndrome. However, it is unclear whether this cutoff can be applied equally to any age or gender. Aim: To analyze the variability of WHtR by age, gender and pubertal stage in elementary school children. Patients and Methods: Cross-sectional study in 2,980 school children (6-14 years old, 51% male) of Santiago, Chile. We measured weight, height and waist circumference and calculated body mass index and WHtR. Pubertal stage was assessed and classified as peripubertal (Tanner I and II) and pubertal (Tanner III, IV and V). Results: The mean age was 9.9 ± 2.3 years, with no gender difference (p = 0.5). Eighty one percent of boys and 59.4% of girls were peripubertal (p < 0.001). The association between age-adjusted WHtR by gender and pubertal stage was not significant (p = 0.409). Therefore mean, standard deviation and percentiles of WHtR were calculated without sex and pubertal stage segmentations. Conclusions: Since WHtR does not vary with age, gender and pubertal status in elementary school children, it is possible to use a single cutoff value, previously defined in this population, to identify children with cardiometabolic risk.

Concordancia de la citología por punción con aguja fina para la detección de cáncer de tiroides en pediatría / Diagnostic yield of fine-needle aspiration cytology for the detection of thyroid cancer in pediatric patients

Background: Despite the low frequency of thyroid nodules (TN) in children, one of every four is malignant. Fine-needle aspiration cytology (FNAC) has a high accuracy detecting thyroid cancer. Aim: To evaluate the performance of FNAC in TN in Chilean children to detect thyroid cancer. Patients and Methods: The pathological reports of 77 thyroidectomies and 103 FNAC carried out in patients aged less than 18 years, between 2002 and 2013 were reviewed. In 36 patients aged 15 ± 2 years (77% women), both the reports of the thyroidectomy and FNAC were available. The cytological specimens were reclassified based on Bethesda 2010. The histology was classified as benign (nodular hyperplasia and follicular adenoma, n = 18), or malignant (papillary, follicular and medullar carcinoma, n = 18). The concordance of the cytology with the final biopsy report was calculated. Results: FNAC classified 13 specimens as definitively benign and 13 as definitively malignant. Among these, these concordances with the pathological study of the biopsy was 100%. Of six cytology tests considered "suspicious for follicular neoplasm" by FNAC, four were benign (67%), and two malignant (33%). Of four cytology tests considered "suggestive of carcinoma" by FNAC, one was benign (25%), and three malignant (75%). Conclusions: Among the studied children, there was a good concordance between FNAC and surgical biopsies. Therefore a FNAC should be carried out when malignancy is suspected in pediatric patients with a TN.