RESUMO
Antecedentes: Existen muy pocos datos publicados sobre la demanda de asistencia en unidades de endocrinología pediátrica en el mundo. Estudios de este tipo podrían ser útiles para el diseño de programas encaminados a la correcta adecuación de recursos. Objetivo: Evaluar la demanda de asistencia endocrinológica pediátrica en el Hospital Universitario de Guadalajara. Material y métodos: Estudio descriptivo retrospectivo de pacientes menores de 15 años valorados en la Unidad de Endocrinología Pediátrica del Hospital Universitario de Guadalajara, entre enero de 2009 y diciembre de 2011. Se recogieron las siguientes variables: sexo, edad, motivo de consulta, origen de la consulta (atención primaria u hospital), diagnóstico (siguiendo la clasificación propuesta por la Sociedad Europea de Endocrinología Pediátrica) y tratamientos administrados.Resultados: En los 3 años de estudio se atendieron en nuestro hospital 989 pacientes con patología endocrinológica pediátrica. El índice de solicitud de primera visita fue de 5,3/1.000 habitantes menores de 15 años. Apreciamos un aumento significativo de solicitud de primera consulta en este periodo. Los motivos de consulta más frecuentes fueron la talla baja (27%) y el sobrepeso/obesidad (17%). Las categorías diagnósticas más frecuentes fueron la talla baja (24,9%), las alteraciones de la pubertad (20%) y el sobrepeso/obesidad (18,6%). Los varones fueron diagnosticados con más frecuencia, con una diferencia estadísticamente significativa, de talla baja, y las mujeres de alteraciones de la pubertad.Conclusiones: Nuestros datos muestran la elevada frecuencia y la diversidad de patologías endocrinológicas entre la población pediátrica de la zona, lo que pone de manifiesto la necesidad y rentabilidad de la existencia de unidades de endocrinología pediátrica (AU)
Background: There are few studies published about the demand for assistance in units of pediatric endocrinology in the world. Studies of frequency and characteristics of the pathologies followed in these units could be of help in the design of programs to the adequacy of resources. Objective: To evaluate the global demand for pediatric endocrine care in the University Hospital of Guadalajara.Methods: Retrospective descriptive study of patients under the age of fifteen that were seen in the Pediatric Endocrinology Unit at Guadalajara University Hospital, between January 2009 and December 2011. Patient data recorded included: gender, presenting symptoms, origin of the referral (primary care or hospital), diagnosis (following the classification proposed by the European Society of Pediatric Endocrinology), and treatments administered. Results: In the study period (2009-2011) 989 patients with endocrine disorders were seen in the Pediatric Endocrinology Unit at Guadalajara University Hospital. The rate of application for first visit was 5.3/1000 people younger than 15 years. We appreciated a significant increase the number of requests for first consultation. The most frequent presenting symptoms were: short stature (27%) and overweight/obesity (17%). In order of frequency, we found the following diagnostic categories: short stature (24.9%), puberty disorders (20%) and overweight/obesity (18.6%). Boys were diagnosed more frequently with a statistically significant difference of short stature and girls of puberty disorders. Conclusions: Our data show the high frequency and diversity of endocrine disorders among the pediatric population in the area, emphasizing the need for and cost-effectiveness of the existence of pediatric endocrinology units (AU)
Assuntos
Criança , Feminino , Humanos , Masculino , Adolescente , Endocrinologia/organização & administração , Pediatria/organização & administração , Ambulatório Hospitalar , Doenças do Sistema Endócrino/epidemiologia , Necessidades e Demandas de Serviços de Saúde , Estudos Retrospectivos , Espanha/epidemiologia , Obesidade Infantil/prevenção & controle , Doenças do Sistema Endócrino/prevenção & controleRESUMO
OBJECTIVE: To determine the genetic basis of dominant early-onset diabetes mellitus in two families. PATIENTS AND METHODS: Molecular analysis by PCR sequencing of the promoter, the 5' untranslated region (UTR) and exons of both GCK and HNF1A genes was carried out in two families with clinically diagnosed dominant diabetes mellitus. RESULTS: The novel HNF1A c.-154_-160TGGGGGT mutation, located in the 5' UTR, was present in several members of the two families in the heterozygous state. Interestingly, the GCK p.Y61X mutation was also identified in three members of one of the families, and two of them carried both mutations in heterozygosis. To the best of our knowledge, this is the first report of the co-inheritance of GCK and HNF1A mutations and the coexistence of maturity-onset diabetes of the young (MODY) 2, MODY 3 and unusual MODY 2-3 genotypes in the same family. CONCLUSIONS: Carriers of both GCK and HNF1A mutations manifested a typical MODY 3 phenotype and showed that the presence of a second mutation in the GCK gene apparently did not modify the clinical outcome, at least at the time of this study. Our data show that co-inheritance of MODY 2 and MODY 3 mutations should be considered, at least in some cases, for accurate genetic testing.
Assuntos
Diabetes Mellitus Tipo 2/genética , Predisposição Genética para Doença , Glucoquinase/genética , Fator 1-alfa Nuclear de Hepatócito/genética , Mutação , Regiões 5' não Traduzidas , Adolescente , Adulto , Sequência de Bases , Estudos de Casos e Controles , Criança , Feminino , Estudos de Associação Genética , Testes Genéticos , Genótipo , Heterozigoto , Humanos , Masculino , Modelos Genéticos , Dados de Sequência Molecular , Conformação de Ácido Nucleico , Linhagem , Fenótipo , Reação em Cadeia da Polimerase , Análise de Sequência de DNA , Resultado do Tratamento , Adulto JovemRESUMO
Introducción: Las visitas de los recién nacidos a los servicios de urgencias producen una gran ansiedad en sus padres y en el personal de urgencias. Como resultado de una estancia hospitalaria posparto cada vez más corta, muchas de las dudas de puericultura que se gestionaban en las maternidades aparecen en el servicio de urgencias. La educación de los padres es fundamental para disminuir la ansiedad y resolver dudas e inquietudes, y de esta forma disminuir la congestión en estos servicios, los costes y todas las implicaciones que esto conlleva. Material y métodos: Revisión retrospectiva de los informes de urgencias de los neonatos (menores de 28 días de vida) atendidos en el servicio de urgencias durante 2009. Se analizan los siguientes datos: edad, sexo, hora y fecha de llegada, etnia de los padres, derivación por parte de otro médico/centro, motivo de consulta, exploraciones complementarias, diagnóstico final y destino del paciente. Resultados: Se realizaron 415 visitas de pacientes con una media de edad de 12,5 días. El 51,3% eran varones. La mayor presión asistencial se registró en el turno de tarde y en los meses de mayo y diciembre. El principal motivo de consulta fue la ictericia (15,4%) y los cambios del ritmo intestinal (14,4%). El 27,5% eran hijos de inmigrantes. Los diagnósticos más frecuentes fueron las dudas de puericultura (35,9%) y la ictericia (15,7%). El 70,8% no precisó exploraciones complementarias. La proporción de ingresos fue del 12%, principalmente por ictericia (3,9%) y fiebre sin foco (1,7%). Conclusiones: La gran mayoría de las consultas corresponden a una patología menor que no precisa exploraciones complementarias, y que podría ser resuelta en centros de atención primaria (AU)
Introduction: The visits to the emergency services by the newborn babies can cause a great anxiety in their parents and in the emergency department staff. As a result of a shorter postpartum hospital stay, many childcare concerns, which traditionally have been managed in newborn nurseries, are appearing in the pediatric emergency department. The parents education is fundamental to diminish the anxiety and to solve doubts and concern, and in that form diminish the congestion in these services, costs and all the implications that this brings. Material and methods: We performed a retrospective study of patients younger than 28 days old of life who were attended at the pediatric emergency department in 2009. Information on sex, age, time and date, parents ethnic group, referral by another medical doctor/center, cause of consultation, complementary examinations, final diagnosis, and patients admission. Results: There were 415 visits to newborn babies. The mean chronological age was 12.5 days, 51.3 % were boys. Visits were most frequent on evening shifts, and in the months of May and December. The most frequent main complaint was jaundice (15.4%) and changes in intestinal rhythm (14.4%).27.5% were children of immigrants. The most frequent final diagnoses were childcare concerns (35.9%) and jaundice (15.7%). Complementary examinations were not required in 70.8%.The admission rate was of 12%, most commonly due to jaundice (3.9%) and fever (1.7%). Conclusions: The vast majority of visits were due to minor problems that did not require complementary examinations and could have been resolved in primary care centers (AU)
