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1.
Revista Digital de Postgrado ; 9(2): 227, ago. 2020. tab
Article in Spanish | LILACS (Americas), LIVECS | ID: biblio-1103383

ABSTRACT

Evaluar los efectos de la terapia hormonal (TH) con Drospírenona (DRSP)/17 ß -estradiol (E2), sobre los parámetros del Síndrome Metabólico (SM) en pacientes postmenopáusicas. Métodos: Investigación comparativa y aplicada, con diseño cuasi experimental, de casos y controles a simple ciego, prospectivo y de campo; realizada en la Consulta de Ginecología. Hospital "Dr. Manuel Noriega Trigo". San Francisco, Estado Zulia. Venezuela. Participaron 120 mujeres separadas al azar para recibir la combinación DRSP/E2 (Grupo A) o un placebo (Grupo B). Se evaluaron los componentes del SM antes y posterior a 6 meses de haber recibido la TH. Resultados: Se encontró una alta prevalencia de SM en ambos grupos antes de recibir el tratamiento (53,3% y 48%; grupo A y B respectivamente). Posterior al tratamiento, DRSP/E2 al compararse con un placebo, redujo significativamente tanto la prevalencia del SM como el riesgo de padecerlo (21,7% versus 48,3%, OR [IC95%]= 0,29 [0,13-0,65]; p < 0.001), con reducción significativa (p< 0.001) de la hipertensión arterial, glicemia basal alterada, hipertrigliceridemia y obesidad central; además de una reducción significativa de los síntomas vasomotores, síntomas psicológicos e incontinencia urinaria (p< 0.001). En el grupo B la prevalencia del SM se mantuvo sin cambios, salvo para la glicemia basal alterada y los síntomas vasomotores y psicológicos que mostraron una reducción significativa (p< 0.001). Conclusión: DRSP/E2 (2mg/1 mg) demostró ser eficaz luego de 6 meses de tratamiento tanto para el control de los parámetros que definen al SM; con pocos y leves efectos indeseados(AU)


To assess the effects of hormone therapy (HT) with drospirenone (DRSP)/17 ß -estradiol (E2) on the parameters of the metabolic syndrome (MS) in postmenopausal patients. Methods: We performed a comparative and applied research, with quasiexperimental, case-control, single-blind, prospective and field design. The study was realized in the Gynecology consultation. Hospital "Dr. Manuel Noriega Trigo". San Francisco, Estado Zulia. Venezuela. 120 women were included, they were separated to receive either the combination DRSP/E2 (Group A) or placebo (Group B). We assess MS components before and ather 6 months of receiving HT. Results: We found a high prevalence in both groups before receiving treatment (53.3% and 48%, group A and B respectively). A ther treatment, DRSP/E2 when compared to placebo, significantly reduced both the prevalence of MS as the risk of setting it (21.7% versus 48.3%, OR [95%] = 0.29 [0.13-0.65] p <0.001), with a significant reduction (p <0.001) of hypertension, impaired fasting glucose, hypertriglyceridemia, central obesity; and a significant reduction in vasomotor symptoms, psychological symptoms and urinary incontinence (p <0.001). In group B the prevalence of MS was unchanged, except for impaired fasting glycemia and vasomotor and psychological symptoms showed a significant reduction (p <0.001). Conclusion: DRSP/E2 (2mg /1mg), proved to be effective a ther 6 months of treatment both for the control of the parameters that define the SM, with few and mild side effects(AU)


Subject(s)
Humans , Female , Progestins/therapeutic use , Hormone Replacement Therapy , Metabolic Syndrome/physiopathology , Estradiol/therapeutic use , Postmenopause , Endocrinology , Gynecology
2.
Article in English | WPRIM (Western Pacific) | ID: wprim-816632

ABSTRACT

Adrenal masses are mainly detected unexpectedly by an imaging study performed for reasons unrelated to any suspect of adrenal diseases. Such masses are commonly defined as “adrenal incidentalomas” and represent a public health challenge because they are increasingly recognized in current medical practice. Management of adrenal incidentalomas is currently matter of debate. Although there is consensus on the need of a multidisciplinary expert team evaluation and surgical approach in patients with significant hormonal excess and/or radiological findings suspicious of malignancy demonstrated at the diagnosis or during follow-up, the inconsistency between official guidelines and the consequent diffuse uncertainty on management of small adrenal incidentalomas still represents a considerable problem in terms of clinical choices in real practice. The aim of the present work is to review the proposed strategies on how to manage patients with adrenal incidentalomas that are not candidates to immediate surgery. The recent European Society of Endocrinology/European Network for the Study of Adrenal Tumors guidelines have supported the view to avoid surveillance in patients with clear benign adrenal lesions <4 cm and/or without any hormonal secretion; however, newer prospective studies are needed to confirm safety of this strategy, in particular in younger patients.


Subject(s)
Adrenal Gland Neoplasms , Consensus , Cushing Syndrome , Diagnosis , Endocrinology , Follow-Up Studies , Humans , Practice Management, Medical , Prospective Studies , Public Health , Uncertainty
3.
Article in English | WPRIM (Western Pacific) | ID: wprim-816627

ABSTRACT

Machine learning (ML) applications have received extensive attention in endocrinology research during the last decade. This review summarizes the basic concepts of ML and certain research topics in endocrinology and metabolism where ML principles have been actively deployed. Relevant studies are discussed to provide an overview of the methodology, main findings, and limitations of ML, with the goal of stimulating insights into future research directions. Clear, testable study hypotheses stem from unmet clinical needs, and the management of data quality (beyond a focus on quantity alone), open collaboration between clinical experts and ML engineers, the development of interpretable high-performance ML models beyond the black-box nature of some algorithms, and a creative environment are the core prerequisites for the foreseeable changes expected to be brought about by ML and artificial intelligence in the field of endocrinology and metabolism, with actual improvements in clinical practice beyond hype. Of note, endocrinologists will continue to play a central role in these developments as domain experts who can properly generate, refine, analyze, and interpret data with a combination of clinical expertise and scientific rigor.


Subject(s)
Artificial Intelligence , Cooperative Behavior , Data Accuracy , Endocrinology , Machine Learning , Metabolism , Osteoporosis , Thyroid Gland
4.
Rev. Hosp. Niños B.Aires ; 61(272): 9-17, abr. 2019.
Article in Spanish | LILACS (Americas) | ID: biblio-995556

ABSTRACT

El SD22q11.2 está asociado a síndromes de DiGeorge, velocardiofacial, facioconotruncal y Cayler, reconocidos con la misma etiología: microdeleción 22q11.2. El fenotipo es variable y presenta cardiopatía conotruncal (CC), dismorfias faciales, anomalías palatinas, inmunodeficiencias y trastornos del neurodesarrollo. Las manifestaciones endocrinológicas que predominan son talla baja, hipocalcemia neonatal asociada a hipoparatiroidismo y disfunción tiroidea. El 90% de los afectados presenta una deleción típica de 3-Mb, mientras que el resto tiene deleciones de menor tamaño o deleción localizada más distal a la región crítica . El objetivo del trabajo es identificar en una cohorte de 63 pacientes con sospecha clínica de SD22q11.2, la presencia de la microdeleción 22q11.2 empleando como método diagnóstico la técnica de FISH y describir brevemente las características clínicas más prevalentes que presentan los pacientes con resultado de FISH positivo y negativo. La microdeleción 22q11.2 se identificó en el 38% (24/63) de los pacientes estudiados. Las características clínicas más prevalentes en este grupo fueron las cardiopatías congénitas conotruncales (95,6%), microcefalia (50%), inmunodeficiencias (50%), hipocalcemia (48,8%), anomalías del paladar (45,8%), retraso del desarrollo y déficit cognitivo (41,5%). En nuestro hospital, el algoritmo diagnóstico para la detección de la microdeleción 22q11.2 es el cariotipo de alta resolución y el estudio por la técnica de FISH.


DS22q11.2 is associated with a wide spectrum of clinical disorders (DiGeorge, velocardiofacial, facioconotrunal and Cayler syndromes) known to arise from the same etiology 22q11.2 microdeletion The phenotype is variable and includes conotruncal cardiac defect (CCD), facial phenotype, palate anomalies, inmunodeficiency and developmental disorders. The endocrine manifestations are short stature (ST), neonatal hypocalcemia due to hypoparathyroidism, and thyroid dysfunction. In 90% of patients with 22q11.1 deletion a common 3-Mb deletion has been found, whereas the rest of cases share a smaller deletion or more distal atypical deletions. The aim of the present study was to identify the 22q11.2 microdeletion by FISH in 63 patients from the Genetic and Endocrinology Division between 2002 and 2017 who had more than one clinical feature of DS22q11. 2. High resolution karyotype and fluorescent in situ hybridization (FISH) were performed with different commercial probes. The 22q11.2 microdeletion was demonstrated in 24/63 patients (38%). The more relevant clinical features in this group were: conotruncal cardiac defect (95.6%), microcephaly (50%), immunodeficiency (50%), hypocalcaemia (48.8%) palate anomalies (45.8%), development delay and cognitive deficit (41.5%). In our hospital, the diagnostic algorithm for the detection of the 22q11.2 microdeletion is the high resolution karyotype and the study by the FISH technique.


Subject(s)
Humans , In Situ Hybridization, Fluorescence , DiGeorge Syndrome , 22q11 Deletion Syndrome , Endocrinology , Genetics
5.
Rev. cuba. salud pública ; 45(1)ene.-mar. 2019.
Article in Spanish | LILACS (Americas), CUMED | ID: biblio-991132

ABSTRACT

El objetivo de este artículo es plantear algunas consideraciones que justifican una periodización histórica de la endocrinología en nuestro país, para lo que se tuvieron en cuenta los hitos o hechos con especial significado para esta especialidad médica. Se utilizó el método histórico-lógico, apoyado en la técnica de revisión documental y la entrevista no estructurada en profundidad, la que se aplicó a profesionales vinculados al desarrollo de la endocrinología en nuestro país. Se establecen tres periodos históricos de la endocrinología en Cuba: Periodo de la preendocrinología (1813-1922), donde aparecieron las primeras descripciones de enfermedades endocrinas como el hermafroditismo, galactorrea, ginecomastia, bocio, acromegalia, diabetes mellitus y otras; Periodo de inicio de la endocrinología (1923-1965), caracterizado por la introducción de la insulina en la práctica clínica y el incremento de los aportes a la literatura científica nacional e internacional, la creación de Sociedad Cubana de Endocrinología y su órgano oficial, Acta Endocrinológica Cubana; y, finalmente, Periodo de consolidación y desarrollo de la endocrinología (1966-actualidad), el que se establece con la creación del Instituto de Endocrinología y Enfermedades Metabólicas, pues con su apertura la especialidad comienza su verdadero progreso en las áreas de la investigación, docencia y asistencia. Se concluye, que teniendo en cuenta los hitos o hechos con especial significado para la endocrinología en el territorio nacional, es posible plantear una periodización histórica de esta especialidad médica(AU)


The objective of this article is to present some considerations that justify a historical periodization of Endocrinology in our country taking into account the landmarks and events with special significance for this medical specialty. The historical-logical method was used, supported by the technique of documentary review and in depth's unstructured interview to professionals linked to the development of Endocrinology in our country. Three historical periods of Endocrinology are established in Cuba: Period of Pre-endocrinology (1813-1922), where the first descriptions of endocrine diseases such as hermaphroditism, galactorrhea, gynecomastia, goiter, acromegaly, diabetes mellitus and others appeared; Period of onset of Endocrinology (1923-1965), that was characterized by the introduction of insulin in clinical practice and the increase of contributions to national and international scientific literature, the creation of the Cuban Society of Endocrinology and its official media the Cuban Endocrinological Act; and finally, Endocrinology's consolidation and development period (1966-present), that is established with the creation of the Institute of Endocrinology and Metabolic Diseases. With this last milestone, Endocrinology in Cuba begins its real progress in the areas of research, teaching and care. It is concluded that taking into account the milestones or events with special significance for Endocrinology in our country, it is possible to propose a historical periodization of this medical specialty(AU)


Subject(s)
Humans , Endocrinology/history , Endocrinology/trends , Cuba
6.
Article in English | WPRIM (Western Pacific) | ID: wprim-719277

ABSTRACT

BACKGROUND/AIMS: Due to recent increases in the disease burden of diabetes mellitus, the Health Insurance Review and Assessment Service (HIRA) of Korea implemented a quality assessment of the treatment of diabetes to improve patient care. The present study was conducted to identify any changes after the implementation of the diabetes quality assessment (DQA). METHODS: The present study evaluated eight quality assessment indicators that were proposed by the HIRA in all patients with diabetes who visited a university hospital in Korea between 2009 and 2014. The indicators were statistically compared according to the characteristics of the subjects. RESULTS: There were several significant differences in the indicators among the subjects according to their demographic characteristics. Female patients had a higher continuity of treatment (COT) than that of male patients, and the insulin-treated group had a higher COT than that of the non-treated group, as well as a higher rate of undergoing the diabetes complication tests (DCTs). Patients between 40 and 80 years of age had the highest COT, while patients under 40 years of age had the lowest COT but the highest rate of taking the DCTs. Patients receiving treatment from an endocrinologist exhibited higher numbers of DCTs performed but displayed lower proportions for the prescription indicators. CONCLUSIONS: The present analysis of the DQA findings revealed that endocrinologists combine prevention and management of diabetes complications with measures for glycemic control. Thus, the effective management of diabetes likely entails systematic joint treatment regimens that involve an endocrinologist.


Subject(s)
Diabetes Complications , Diabetes Mellitus , Endocrinology , Female , Humans , Insurance, Health , Joints , Korea , Male , Patient Care , Prescriptions , Quality Improvement , Quality of Health Care
7.
Article in English | WPRIM (Western Pacific) | ID: wprim-763716

ABSTRACT

No abstract available.


Subject(s)
Endocrinology , Metabolism
8.
Article in English | WPRIM (Western Pacific) | ID: wprim-763701

ABSTRACT

No abstract available.


Subject(s)
Endocrinology , Metabolism
9.
Article | WPRIM (Western Pacific) | ID: wprim-763546

ABSTRACT

Methylphenidate (MPH) is the most preferred drug for treatment of the attention deficit hyperactivity disorder (ADHD). Here, we aimed to discuss the possible effects and mechanisms of MPH on precocious puberty (PP) via a case series with seven children who had normal body mass index. In this case series we evaluated seven children with ADHD, who had received MPH for at least 6 months (0.5 mg/kg/dose three times a day, maximum 60 mg) and admitted to Department of Pediatric Endocrinology with PP symptoms. The mean age was 8.16 years. Basal hormonal levels (luteinizing hormone [LH], follicle stimulating hormone, and estrogen/testosterone) were within normal range. Results of LH-releasing hormone stimulation tests demonstrated central pubertal responses. Glutamine, dopamine and noradrenaline are most important excitatory neurotransmitters that have a role at the beginning of puberty. The effect of MPH, cumulating dopamine and noradrenaline in the synaptic gap could be associated with the acceleration of puberty with the excitatory effect of dopamine’s gonadotropin-releasing hormone (GnRH) release, excitatory effect of noradrenaline’s GnRH release and the disappearance of GnRH receptor expression suppressor effect on prolactin disinhibitory effect.


Subject(s)
Acceleration , Adolescent , Attention Deficit Disorder with Hyperactivity , Body Mass Index , Child , Dopamine , Endocrinology , Follicle Stimulating Hormone , Glutamine , Gonadotropin-Releasing Hormone , Humans , Methylphenidate , Neurotransmitter Agents , Norepinephrine , Prolactin , Puberty , Puberty, Precocious , Receptors, LHRH , Reference Values
10.
Article in English | WPRIM (Western Pacific) | ID: wprim-762597

ABSTRACT

No abstract available.


Subject(s)
Endocrinology , Metabolism
11.
Rev. chil. endocrinol. diabetes ; 12(4): 199-204, 2019. tab
Article in Spanish | LILACS (Americas) | ID: biblio-1088019

ABSTRACT

INTRODUCCIÓN: El estudiante de medicina actualmente está inmerso en una sociedad altamente tecnologizada, dónde la telemedicina podría ser utilizada como un instrumento hacia un mayor aprendizaje. OBJETIVO: El objetivo del estudio es analizar el logro de competencias y el grado de satisfacción de los estudiantes medicina con la utilización de la telemedicina como estrategia didáctica en la enseñanza de la endocrinología. MATERIAL Y MÉTODO: Estudio preexperimental, correlacional, transversal y con medición posterior a la intervención. La muestra estuvo constituida por los 40 estudiantes de tercer año de medicina (24 hombres y 16 mujeres) que realizaron su práctica de endocrinología durante el segundo semestre del 2017. Se les evaluó los logros alcanzados en las competencias a través de una escala de apreciación y se midió el grado de satisfacción con la actividad docente a través de un cuestionario validado (α de Cronbach de 0,9565). RESULTADOS: El rendimiento de los estudiantes en el módulo de teleendocrinología al evaluar las competencias de analizar, sintetizar y presentar un caso clínico teleconsultado fue de 6,1 en una escala de 1 a 7, y no se encontraron diferencias según sexo. El 90% de los estudiantes consideró muy motivadora la metodología de enseñanza basada en la telemedicina y el 82,5% consideró que esta metodología favorece la integración de los contenidos. CONCLUSIONES: La telemedicina puede ser utilizada como una herramienta para evaluar competencias académicas de endocrinología en los estudiantes de pregrado de medicina, y que estos muestran un alto grado de satisfacción con este tipo de actividad docente.


INTRODUCTION: The medical student is currently immersed in a highly technological society, where telemedicine could be used as an instrument towards greater learning. OBJECTIVE: The objective of the study is to analyze the achievement of competences and the degree of satisfaction of medical students with the use of telemedicine as a didactic strategy in the teaching of endocrinology. MATERIAL AND METHOD: Pre-experimental, correlational, cross-sectional study and measurement after the intervention. The sample consisted of 40 third-year medical students (24 men and 16 women) who performed their endocrinology practice during the second semester of 2017. They were evaluated the achievements in the competences through a scale of appreciation and The degree of satisfaction with the teaching activity was measured through a validated questionnaire (Cronbach's de 0.9565). RESULTS: The performance of the students in the teleendocrinology module when evaluating the competences of analyzing, synthesizing and presenting a teleconsultated clinical case was 6.1 on a scale of 1 to 7, and no differences were found according to sex. 90% of the students considered the teaching methodology based on telemedicine very motivating and 82.5% considered that this methodology favors the integration of the contents. CONCLUSIONS: Telemedicine can be used as a tool to evaluate endocrinology academic competences in undergraduate medical students, and that they show a high degree of satisfaction with this type of teaching activity.


Subject(s)
Humans , Male , Female , Young Adult , Students, Medical , Telemedicine/methods , Education, Medical, Undergraduate , Educational Measurement , Endocrinology/education , Cross-Sectional Studies , Surveys and Questionnaires , Academic Performance
12.
Rev. salud bosque ; 9(1): 26-32, 2019. Graf, Tab
Article in Spanish | LILACS (Americas), COLNAL | ID: biblio-1102979

ABSTRACT

Objetivos. Conocer las reacciones adversas tipo endocrino asociado al uso de medicamentos y reportado al Programa Distrital de Farmacovigilancia de Bogotá durante el periodo 2012 a 2016. Materiales y métodos. Los reportes analizados corresponden al periodo del 1º de enero de 2012 al 31 de diciembre de 2016 del Programa Distrital de Farmacovigilancia. Su análisis se hizo mediante algoritmos de causalidad y por tipo de evento. Resultados. Se analizaron 85 reportes. Uno de ellos relacionado con una sospecha de problema de calidad del medicamento, los otros 84 relaciona-dos con reacciones adversas sobre los cuales se centró la investigación. De los 84 reportes, 36 (42,9 %) corresponden a reacciones adversas a medicamento tipo A y 26 (31 %) a reportes de reacciones adversas a medicamentos de tipo fallo terapéutico. Los principales efectos secundarios a los medicamentos fueron el aumento de los niveles de hormona paratiroidea por uso de cinacalcet en 27 (34,1 %) reportes, seguidas por el síndrome de Cushing relacionado con la administración de prednisolona en 12 (14,1 %), bocio por uso de adalimumab en 12 (14,1 %), hiperprolactinemia por el uso de risperidona en 10 (11,8 %) e hipotiroidismo inducido por amiodarona en 3 (3,4 %). Conclusiones. El desarrollo de estos estudios permite conocer las principales reacciones adversas que se presentan durante el uso habitual de los medicamentos, así como su perfil de seguridad.


Objective. Becoming familiar with medication-use related endocrine disruption reported to the local pharmacovigilance program in Bogotá during 2012-2016.Tools and methods. Analyzed reports are dated between January 1st, 2012 and December 31st, 2016 and were gathered from the Pharmacovigilance Program in Bogotá. The analysis of the said reports was conducted through causality algorithms and event type.Results. Out of 87 analyzed reports, two were not included in the study due to lack of information for its classification in one case and, medication-related problems in another case. 36 reports (42.9 %) were found to have adverse reaction to type A medications, while 26 reports (34.1%) were found to have medication related problem type therapeutic failure. The main medication related problems were associated to the use of Cinacalcet with increased levels of parathormone in 27 out of 87 analyzed reports in this study. Other medication related problems found were: Cushing Syndrome, associated with the use of prednisolone in 12 reports; Goiter associated to the use of adalimumab in 12 reports; Hyperprolactinemia associated to the use of Risperidone in 10 reports and, Hypothyroidism associated to the use of Amiodarone in 3 reports. Conclusions: Carrying out such studies allows for the understanding of the main medication-use problems that are shown during common use of medications, as well as their safety profile.


Objetivo. O objetivo do artigo é conhecer as alterações endócrinas associadas ao uso de medicamentos reportadas pelo Programa Distrital de Vigilância farmacológica em Bogotá. Materiais e métodos. Os reportes analisados correspondem ao período de janeiro de 2012 a dezembro 2016 e a analise foi realizada com algoritmos de causalidade e por tipo de evento. Resultados. Foram analisados 87 reportes, embora no final dois deles foram desconsiderados, um por corresponder a um problema relacionado com o medicamento e o outro por falta de informações para classifica-lo. Encontraram-se 36 (42%) de reportes associados a reações adversas perante os medicamentos tipo A e 26 (31%) de reportes de RAM tipo falho terapêutico. As principais RAM foram por uso de cinacalcet com aumento dos níveis de parathormona em 27 reportes (34%), seguidas de Síndrome de Cushing relacionado com prednisolona em 12 reportes (14,1%), bócio por uso de adalimumab em outros 12 re-portes, hiperprolactinemia por uso de risperidona em 10 casos (11,8%) e hipotiroidismo induzido por amiodarona em 3 casos. Conclusoes. O desenvolvimento destes estudos, permite conhecer as principais reações adversas causadas pelo uso habitual dos medicamentos mesmo como seu perfil de segurança.


Subject(s)
Humans , Male , Female , Drug-Related Side Effects and Adverse Reactions , Endocrinology , Hyperprolactinemia , Prednisolone , Colombia , Risperidone , Cushing Syndrome , Hypothyroidism
13.
Rev. epidemiol. controle infecç ; 9(2): 134-141, 2019. ilus
Article in Portuguese | LILACS (Americas) | ID: biblio-1021771

ABSTRACT

Justificativa e Objetivos: O diabetes mellitus gestacional (DMG) é o distúrbio metabólico que determina redução da tolerância à glicose, diagnosticado na gestação, que pode ou não se perpetuar após o parto. No Brasil, em torno de 7% das gestações são complicadas pela hiperglicemia gestacional. O presente estudo teve como objetivo avaliar o perfil epidemiológico, socioeconômico, clínico-obstétrico e identificar o conhecimento em relação ao DMG de gestantes atendidas em um Centro Especializado de Saúde da Mulher de uma Unidade Básica de Saúde (UBS) de Lajeado/RS. Métodos: A metodologia consistiu na aplicação de três questionários: avaliação do perfil socioeconômico, epidemiológico e clínico-obstétrico; avaliação do conhecimento sobre DMG; e, avaliação do conhecimento das gestantes sobre diabetes. Participaram da pesquisa 20 gestantes atendidas na UBS no período de 15 de abril a 15 de maio de 2017. As informações foram tabuladas em planilha do Excel, sendo que as variáveis quantitativas foram descritas através de frequência absoluta e relativa e foi seguida a sintaxe prevista para análise do Diabetes Knowledge Questionnaire (DKN-A). Resultados: Os resultados mostraram que as grávidas não possuíam conhecimento sobre diabetes, embora 90% tenham afirmado possuir informação e atualização sobre temas de saúde. A maioria das gestantes era branca, natural de Lajeado, casada ou em união estável, com renda mensal de até três salários mínimos, 85% tinha entre 15 e 35 anos e 50% possuía ensino fundamental. A maioria (90%) não tinha doença prévia à gestação, 55% utilizava medicação durante a gestação, 65% não praticava atividade física e 65% não consultou nutricionista nos últimos 12 meses. Nenhuma das gestantes possuía Diabetes Mellitus ou teve DMG em gestação prévia, contudo uma participante (5%) apresentava DMG. Conclusão: Conclui-se que as gestantes com faixa etária de 15 a 35 anos, entrevistadas na UBS de Lajeado, desconheciam os riscos ou os cuidados necessários na gestação para evitar o DMG.(AU)


Background and Objectives: Gestational diabetes mellitus (GDM) is the metabolic disorder that causes a reduction in glucose tolerance, diagnosed during pregnancy, which may or may not persist after childbirth. In Brazil, around 7% of pregnancies are complicated by gestational hyperglycemia. The present study aimed to evaluate the epidemiological, socioeconomic, clinical and obstetric profile and to identify the knowledge regarding GDM of pregnant women assisted at a Specialized Health Center for Women of a Basic Healthcare Unit (BHU) from Lajeado/RS. Methods: The method consisted of three questionnaires: socioeconomic profile, epidemiological and clinical-obstetric profile, evaluation of knowledge about GDM, and evaluation of pregnant women's knowledge about diabetes. Twenty pregnant women assisted at the BHU from April 15 to May 15, 2017 were enrolled. The information was tabulated in an Excel spreadsheet, and the quantitative variables were described by absolute and relative frequencies, following the syntax predicted for analysis of Diabetes Knowledge Questionnaire - DKN-A. Results: Pregnant women did not have knowledge about diabetes, although 90% reported that they have information and updates on health topics. The majority of pregnant women were white, from Lajeado, married or in a stable union, with monthly income of up to three minimum wages, 85% were between 15 and 35 years old and 50% have primary education. The majority (90%) did not have pre-gestational disease, 55% used some kind of medication during pregnancy, 65% did not practice physical activity and 65% did not consult with a nutritionist in the last 12 months. None of the pregnant women had diabetes mellitus or had GDM in a previous pregnancy, but one participant (5%) had GDM. Conclusion: Pregnant women aged between 15 and 35 years, interviewed at the BHU of Lajeado, were unaware of the risks or care required during pregnancy to avoid GDM.(AU)


Justificación y objetivos: La Diabetes Mellitus Gestacional (DMG) es el trastorno metabólico que determina la reducción de la tolerancia a la glucosa, diagnosticada en la gestación, que puede o no perpetuarse después del parto. En Brasil, alrededor del 7% de las gestaciones son complicadas por la hiperglicemia gestacional. El presente estudio tuvo como objetivo evaluar el perfil epidemiológico, socioeconómico, clínico-obstétrico e identificar el conocimiento en relación a la Diabetes Mellitus Gestacional de gestantes atendidas en un Centro Especializado de Salud de la Mujer de una Unidad Básica de Salud de Lajeado/RS. Métodos: La metodología consistió en la aplicación de tres cuestionarios (evaluación del perfil socioeconómico, epidemiológico y clínico-obstétrico, evaluación del conocimiento sobre DMG, y evaluación del conocimiento de las gestantes sobre diabetes). Participa ron de la investigación 20 gestantes atendidas en la UBS en el período del 15 de abril al 15 de mayo de 2017. Las informaciones fueron tabuladas en la hoja de Excel, siendo que las variables cuantitativas fueron descritas a través de frecuencia absoluta y relativa y fue seguida la sintaxis prevista para análisis del Diabetes Knowledge Questionnaire - DKN-A. Resultados: Los resultados muestran que las embarazadas no tienen conocimiento sobre la diabetes, aunque el 90% afirma poseer información y actualización sobre temas de salud. La mayoría de las gestantes es blanca, natural de Lajeado, casada o en unión estable, con renta mensual hasta 3 salarios mínimos, 85% posee entre 15 y 35 años y 50% posee enseñanza fundamental. La mayoría (90%) no tiene enfermedad previa a la gestación, 55% utiliza medicación durante la gestación, 65% no practica actividad física y 65% no ha consultado a los nutricionistas en los últimos 12 meses. Ninguna de las gestantes poseía Diabetes Mellitus o tuvo DMG en gestación previa, sin embargo una participante (5%) presenta DMG. Conclusiones: Se concluye que las gestantes con grupo de edad de 15 a 35 años, entrevistadas en la UBS de Lajeado, desconocen los riesgos o los cuidados necesarios en la gestación para evitar el DMG.(AU)


Subject(s)
Humans , Pregnancy , Pregnancy , Diabetes, Gestational , Pregnant Women , Diabetes Mellitus , Endocrinology , Hyperglycemia
14.
Article in English | WPRIM (Western Pacific) | ID: wprim-739223

ABSTRACT

The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the basic mechanism and pathogenesis of human disorders rapidly. Many endocrine disorders are caused by genetic variations of a single gene or by mixed genetic factors. Various genetic testing methods are currently available, enabling a more precise diagnosis of many endocrine disorders and facilitating the development of a concrete therapeutic plan. In this review article, we discuss genetic testing technologies for genetic endocrine disorders, with relevant examples. We additionally describe our research on implementing genetic analysis strategies to identify novel causal mutations in hypocalcemia-related disorders.


Subject(s)
Diagnosis , Endocrine System Diseases , Endocrinology , Genetic Testing , Genetic Variation , Genetics , Genomics , High-Throughput Nucleotide Sequencing , Humans
15.
Rev. Hosp. Niños B.Aires ; 60(270): 264-268, sept. 2018.
Article in Spanish | LILACS (Americas) | ID: biblio-1099780

ABSTRACT

Como homenaje a la actuación del Dr. Juan Jorge Heinrich en su carácter de docente, pediatra clínico e investigador, los autores del presente artículo consideran adecuada una revisión de su participación en el descubrimiento de dos nuevas patologías dentro del campo de la resistencia a la acción de la hormona de crecimiento. La primera es causada por una mutación en el gen que codifica para la STAT5b (transductor de señal y activador de transcripción 5b), proteína que participa en la transmisión intracelular de la señal de GH. La segunda es causada por una mutación en el gen que codifica para la subunidad ácido lábil (ALS), una proteína esencial para la formación de complejos ternarios con IGF-I e IGFBP-3, los que incrementan marcadamente la vida media del IGF-I en la circulación


In homage to Dr. Juan Jotge Heinrich actions as teacher, pediatrician, and researcher, we feel pertinent to remark his contributions to the discovery of two new pathologies within the field of resistance to the action of growth hormone. One is due to a mutation in the gene coding for a protein, STAT5b (signal transducer and activator of transcription 5b), involved in the intracellular chain of transmission of the growth hormone signal; the other due to a mutation in the gene coding for ALS (acid labile subunit) a protein essential for the ternary complex formation among IGF-I, IGFBP-3, and ALS, which markedly increases the half life of IGF-I in the circulation


Subject(s)
Humans , Laron Syndrome , Pediatrics , Signal Transduction , Endocrinology
16.
Rev. Hosp. Niños B.Aires ; 60(270): 269-277, sept. 2018.
Article in Spanish | LILACS (Americas) | ID: biblio-1099866

ABSTRACT

El crecimiento y la maduración física del niño y del adolescente transcurre por diversas etapas observándose cambios en la talla y velocidad de crecimiento característicos que son consecuencia entre otros factores, de cambios hormonales en el sistema o eje de la hormona de crecimiento (GH). Los principales componentes de este eje con utilidad clínica en la etapa infanto-juvenil son la GH, el factor de crecimiento insulino símil tipo I (IGF-I) y las proteínas de transporte. La GH es secretada por la hipófisis en forma de pulsos a la circulación y esto es uno de los principales factores que condicionan su utilidad como marcador de deficiencia de GH. La medición de GH en condiciones basales únicamente tiene valor diagnóstico cuando se obtiene en hipoglucemia y especialmente si se trata de un neonato. Es necesario entonces, en el resto de los casos, evaluar la capacidad de secreción de GH mediante pruebas funcionales de estímulo estandarizadas. Los factores dependientes de GH son considerados biomarcadores fidedignos de la acción de GH. Sin embargo, su concentración varía ampliamente durante la etapa pediátrica obligando su interpretación en el contexto de valores de referencia establecidos según la edad, sexo y desarrollo puberal. El presente trabajo revela los profundos cambios fisiológicos en los componentes del sistema de la GH que ocurren en la etapa pediátrica y los recaudos que deben tenerse en cuenta cuando se utilizan en el diagnóstico de la deficiencia de GH


Among other factors, the postnatal growth and physical maturation of children and adolescents (characterized by changes in the size and growth velocity rates) are influenced by components of the growth hormone (GH) system. GH, the type I insulin-like growth factor (IGF-I) and their transport proteins constitute the more relevant biochemical tools for the GH deficiency (GHD) diagnosis in pediatrics. The GH is secreted by the pituitary gland into the circulation in pulses and this pulsatility limits its usefulness, with the exception of a random basal GH in neonates under hypoglycaemia. Therefore, it is necessary to evaluate GH secretion status in standardized functional tests. IGF-I and IGFBP-3 are considered reliable biomarkers of GH action. However, these GH-dependant biomarkers widely vary in the paediatric period, forcing their interpretation in the context of confident reference values according to age, sex and pubertal development. The present revision reveals the profound physiological changes in the components of the GH system throughout the whole pediatric period and the situations that must be taken into account when they are used in the diagnosis of GHD


Subject(s)
Humans , Growth Hormone , Growth , Pediatrics , Growth and Development , Endocrinology
17.
Rev. Hosp. Niños B.Aires ; 60(270): 278-283, sept. 2018.
Article in Spanish | LILACS (Americas) | ID: biblio-1099868

ABSTRACT

La hipertensión arterial es una patología de menor frecuencia en pediatría que en la edad adulta, sin embargo existen diversas etiologías que la pueden originar y es fundamental realizar diagnóstico certero de las mismas. El feocromocitoma es un tumor endócrino, originado en el tejido cromafin y constituye una importante causa de hipertensión secundaria. Puede ser esporádico o formar parte de diversos síndromes familiares, como la enfermedad de von Hippel Lindau, la Neoplasia Endócrina Múltiple tipo 2, los síndromes de Feocromocitoma/ Paraganglioma Familiar tipo 1, 2, 3 y 4, y la Neurofibromatosis tipo 1. Además, en la actualidad se han descrito más de 15 genes susceptibles que han sido implicados en casos familiares. Siendo tumores altamente heredables, se recomienda realizar pruebas genéticas en todos los pacientes, incluso en aquellos con una historia familiar comprobable. El diagnóstico de la enfermedad hereditaria mejora la atención del paciente y permite el diagnóstico precoz en familiares


Arterial hypertension is a less frequent condition in paediatrics than in adulthood, but due to the high proportion of secondary causes, the search for the aetiology is crucial for an adequate diagnosis and treatment. Pheochromocytoma is an endocrine tumor originated in the chromaffin tissue. It is an important cause of secondary hypertension. It can be sporadic or part of several hereditary syndromes, such as von Hippel Lindau disease, Multiple Endocrine Neoplasia type 2, Pheochromocytoma/Familiar Paraganglioma syndromes type 1, 2, 3 and 4, and type 1 Neurofibromatosis. In addition, more than 15 susceptible genes have been described in familial pheochromocytoma. Being highly heritable tumors, genetic testing of tumor susceptibility is recommended in all patients, even in absence of a family history. The diagnosis of the hereditary disease improves the patient's attention and allows early diagnosis in relatives


Subject(s)
Humans , Pheochromocytoma , Pediatrics , Endocrinology
18.
Acta pediátr. hondu ; 9(1): 845-854, abr.-sept. 2018. graf, tab
Article in Spanish | LILACS (Americas) | ID: biblio-1024719

ABSTRACT

Antecedentes: La obesidad infantil es una enfermedad crónica de origen multifactorial considerada uno de los problemas de salud pública más graves del siglo XXI. El problema es mundial que está afectando progresivamente a muchos países de bajos y medianos ingresos, sobre todo en el medio urbano. La prevalencia ha aumentado a un ritmo alarmante. Objetivo: Conocer los factores asociados con la Obesidad infantil en pacientes atendidos en Consulta externa de Endocrinología Pediátrica del Hospital Mario Catarino Rivas (HMCR) en el período de enero 2017-junio 2018. Pacientes y métodos: Diseño no experimental, estudio de casos y controles, edades comprendidas entre 2-17 años con 364 días de vida, los pacientescon obesidad fueron captados en ConsultaExterna de Endocrinología Pediátrica,eligiendo los controles en una relación 1:1 deConsulta Externa de Postgrado de Pediatría.Los datos se analizaron con SPSS versión23.Resultados:Los factores asociados aobesidad fueron: sexo femenino, tenerantecedentes familiares de obesidad, realizaractividad física diaria menor a 30 minutos,dedicar tiempo diario a los videojuegos.Conclusiones: Según el análisis de RegresiónLogística Binaria la probabilidad de desarrollarobesidad infantil se incrementa de formasignificativa si el individuo es del sexofemenino, tienen antecedentes de padres conobesidad, si no recibió Lactancia MaternaExclusiva (LME) en los primeros 6 meses, si realiza actividad física diaria menor de 30 minutos y si dedica tiempo diario a los videojuegos...(AU)


Subject(s)
Humans , Infant , Child, Preschool , Child , Public Health/legislation & jurisprudence , Pediatric Obesity/diagnosis , Endocrinology , Medical History Taking
19.
Rev. Hosp. Niños B.Aires ; 60(270): 236-243, sept. 2018.
Article in Spanish | LILACS (Americas) | ID: biblio-1000075

ABSTRACT

Introducción: Los niveles elevados de fosfatasa alcalina (FAL) son utilizados en la evaluación de enfermedades hepatobiliares y óseas, pero los niveles disminuidos en general, no son tenidos en cuenta a pesar de ser indicadores de enfermedad como la Hipofosfatasia. Es importante contar con valores de referencia ajustados para edad y sexo. Objetivo: Determinar en los niños que consultan al endocrinólogo pediatra, la proporción de pacientes que presentan una FAL disminuida. Material y Métodos: Se realizó una revisión de corte transversal, retrospectiva, de todas las FAL que se determinaron a pacientes en consulta en la División de Endocrinología Infantil. Resultados: se obtuvieron 5.110 determinaciones de FAL, 938 (18%) presentaban una FAL menor a 100 U/L, los cuales correspondían a 634 pacientes. Los pacientes menores de 18 años fueron categorizados de acuerdo con los valores de referencia de D'Isa y col. y de Colantonio y col. La distribución etaria fue dispersa, con un rango de 2,94 años a 16,13 años, una mediana de 11,88 años; 93% pertenecía al sexo femenino y se describieron los datos clínicos relevantes de los pacientes. Si bien en sus historias clínicas se encontraba registrado, dicho valor no fue jerarquizado. Conclusión: La proporción de pacientes con niveles de FAL menores a 100 U/L es de un 18% que disminuye notablemente si se consideran algunos métodos de referencia propuestos. Es indispensable contar con valores de referencia de FAL ajustados a sexo y edad adecuados para alertar al médico de valores bajos y altos de FAL


Introduction: High levels of Alkaline Phosphatase (ALP) are used in the evaluation of hepatobiliary and bone diseases, but generally decreased levels are not considered despite being indicators of disease such as hypophosphatasia. It is important to have reference values adjusted for age and sex. Objective: to determine in the children who consult the pediatric endocrinologist, the proportion of patients who have a decreased ALP. Material and Methods: A cross-sectional, retrospective review was made of all the ALP´s that were determined to patients in consultation at the Division of Pediatric Endocrinology. Results: 5110 ALP determinations were obtained, 938 (18%) had an ALP less than 100 U/L, which corresponded to 634 patients. Patients younger than 18 years were categorized according to the reference values of D'Isa et al., and Colantonio et al. The age of distribution was scattered, with a range of 2.94 years to 16.13 years, a median of 11.88 years and 93% belonged to the female sex, and the relevant clinical data of the patients were described. Although it was registered in medical records, this value was not considered relevant. Conclusion: The proportion of patients with FAL levels lower than 100 U / L is 18%, which decreases considerably if some proposed reference methods are considered. It is essencial to have FAL reference values adjusted to sex and age to alert the physician of low and high FAL values


Subject(s)
Humans , Alkaline Phosphatase , Hypophosphatasia , Pediatrics , Endocrinology
20.
Rev. Hosp. Niños B.Aires ; 60(270): 244-249, sept. 2018.
Article in Spanish | LILACS (Americas) | ID: biblio-1000083

ABSTRACT

Se define como desarrollo sexual precoz en la niña a la aparición de caracteres sexuales secundarios antes de los 8 años. Existen distintos tipos de desarrollo sexual precoz: Pubertad Precoz Central (PPC) producida por la reactivación prematura del eje hipotálamo-hipófisogonadal (HHG), Pubertad Precoz Periférica producida por actividad ovárica autónoma independiente del eje HHG y variantes del desarrollo sexual (pubarca y telarca precoz aisladas). Recientemente los avances en estudios moleculares y por imágenes han permitido precisar mejor su etiología. El diagnóstico se basa en el examen físico, análisis de laboratorio y estudios por imágenes que permiten diferenciar las formas completas de sus variantes. La PPC produce alteraciones emocionales en las niñas y aceleran la maduración esquelética comprometiendo la talla adulta por lo cual es necesario instituir el tratamiento adecuado. La terapéutica de elección son los análogos de GnRH que mostraron ser seguros y efectivos en las niñas con PPC. Se presenta una revisión del tema enfatizando en las herramientas de utilidad para orientar al pediatra en el diagnóstico y realizar la pronta derivación al especialista en endocrinología infantil para el tratamiento y seguimiento de niñas con distintos tipos de desarrollo sexual precoz


The appearance of secondary sexual characteristics before the age of 8 in girls is defined as early sexual development. There are different types of early sexual development: Central Precocious Puberty (CPP) produced by the premature reactivation of the hypothalamic-pituitary-gonadal axis (HPG), Peripheral Precocious Puberty produced by autonomous ovarian activity independent of the HPG axis and variants of sexual development (premature pubarche and telarche). Recently, advances in molecular studies and imaging have allowed to better define the etiology of early sexual development. The diagnosis is based on physical examination, laboratory analysis and imaging studies that allow differentiation of the complete form from their variants. CPP produces emotional alterations in girls and accelerates skeletal maturation, compromising adult height. After confirming diagnosis it is necessary to institute the appropriate treatment. GnRH analogues have shown to be safe and effective in girls with CPP. A review of the topic is presented, emphasizing on the useful tools to guide the pediatrician in the diagnosis and prompt referral to a pediatric endocrinologist for the treatment and monitoring of girls with different types of early sexual development


Subject(s)
Female , Puberty, Precocious , Pediatrics , Endocrinology
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