Recent progress of NR5A1 gene mutation / 国际儿科学杂志

NR5A1 gene mutation is one of the common cause of 46 XY dysplasia (46,XY disorder of sex development,46,XY DSD),which is an autosomal dominant disease.It has wide phenotypes:46,XY gonadal dysplasia is the most common one,site-specific mutations can lead to adrenal dysfunction and may affect the height.In recent years,more and more studies have shown that the mutation of NR5A1 gene can lead to 46,XX ovotesticular DSD and 46,XX testicular DSD.The disease is also characterized by hypergonadotropic hypogonadism,so LH and FSH are high,especially the FSH,leading to a decrease in LH/FSH.The treatment of NR5A1 gene mutation is mainly symptomatic.Gender identification needs to take many factors into consideration.Before puberty,children can use GnRHa to inhibit gonad development and avoid premature ovarian failure.In this review,recent progress of NR5A1 is summarized.

Microtensile test in dental research. Controversial aspects in statistical analysis: experimental unit and premature failures / Teste de microtração na pesquisa odontológica. Aspectos controversos na análise estatística: unidade experimental e falhas prematuras

Objetivo: O objetivo dessa pesquisa é apresentar aspectos controversos na condução da análise estatística inferencial quanto à seleção da unidade experimental e quanto ao procedimento adotado diante das falhas pré-teste. Método: Foram avaliadas 87 dissertações e teses na área da odontologia que realizaram ensaio de microtração disponíveis em três universidades públicas do estado de São Paulo: Faculdade de Odontologia da USP (São Paulo, Ribeirão Preto e Bauru), Faculdade de Odontologia da Unesp (Araraquara e São José dos Campos) e Faculdade de Odontologia da Unicamp (Piracicaba e Campinas). Resultados: Quanto à unidade experimental, 34 (39,08%) teses e/ou dissertações utilizaram o “palito” e 53 (60,91%) o “dente/bloco”. Quanto às falhas pré-teste, 9 (10,34%) teses e/ou dissertações atribuíram valor “0”, 6 (6,89%) desconsideraram os palitos, 2 (2,29%) atribuíram o valor mínimo de 2 MPa, 1 (1,14%) atribuiu o valor mínimo de 4 MPa, 1 (1,14%) atribuiu a metade do valor mínimo do grupo e 68 (78,16%) não citaram a ocorrência de falhas pré-testes. Conclusão: Quanto à unidade experimental, atualmente considera-se como unidade experimental o dente (ou o bloco cerâmico) e não o palito. Quanto à ocorrência de falhas pré-teste, considera-se: atribuição de um valor mínimo de resistência adesiva na condição experimental ou grupo considerado; expressar o número e percentual dos casos de falhas em cada condição experimental; qual tipo de falha foi incluído na análise estatística e informar exatamente como os autores procederam em relação ao delineamento experimental (unidade experimental e falhas pré-teste).

Objectives: The aim of this study was to present the controversial aspects in performing inferential statistical analysis with regard to selection of the experimental unit and procedures adopted in the case of pre-test failures. Methods: Eighty-seven dissertations and theses in the field of dentistry were evaluated, for which microtensile testing was made available at three public Universities in the State of São Paulo were performed, namely: School of Dentistry, USP; School of Dentistry, Unesp (Araraquara and São José dos Campos) and the Piracicaba School of Dentistry (Unicamp). Results: Regarding the experimental unit, 34 (39.08%) theses and/or dissertations used the “stick” and 53 (60.91%) the “tooth/block” type. With regard to pretest failures, 9 (10.34%) theses and/or dissertations attributed the value “0”, 6 (6.89%) disregarded the sticks, 2 (2.29%) attributed the minimum value of 2 MPa, 1 (1.14%) the minimum value of 4 MPa, 1 (1.14%) attributed half the minimum value of the group and 68 (78.16%) did not mention the occurrence of pretest failures. Conclusion: At present the experimental unit is considered to be the tooth (or ceramic block) and not the stick. As it relates to pre-test failures, the following are considered: attribution of a minimum bond strength value under experimental condition or in the group considered, an expressed number and percentage of cases of failures under each experimental condition; failures included in the statistical analysis and detailed explantion of how the authors performed with regard experimental designs (experimental unit and premature failures).

Flora vaginal en adolescentes con embarazo a término y su relación con rotura prematura de membranas / Vaginal flora in pregnant adolescents with membrane premature failure

El objetivo de este trabajo fue determinar la relación existente entre flora vaginal y rotura prematura de membranas, en adolescentes embarazadas que acudieron a la consulta prenatal de la Maternidad “Dr. Armando Castillo Plaza” (MACP), perteneciente al Servicio Autónomo Hospital Universitario de Maracaibo. El diseño de este estudio fue explicativo, cuasi experimental. La población y muestra estuvo representada por 80 adolescentes embarazadas, en el último trimestre de gestación. El método de recolección de datos estuvo constituido por una entrevista personalizada y los datos fueron recogidos en un formulario conformado por preguntas abiertas. A todas las pacientes se les tomó muestra para cultivo de secreción vaginal identificándose la flora vaginal presente. Como resultados obtenidos se tuvo que la población mayormente afectada fueron las adolescentes mayores de 17 años; iniciando su actividad sexual entre los 15 y 17 años, las cuales viven en concubinato y pertenecen al Nivel V según Graffar. El diagnóstico de RPM se realizó a través de la maniobra de Tarnier y el Test de Nitrazina, con un periodo de latencia de 6-12 horas, la edad gestacional estuvo entre las 37-38 semanas. Los microorganismos reportados fueron bacilos Gram positivos en un 46%, combinación de bacilos Gram positivos y Gram negativos en el 16%, levaduras en el 15%, bacilos Gram negativos 8% y virus de papiloma humano (VPH) 3%. El cultivo de secreción vaginal fue positivo en el 57% de los casos, siendo Candida albicans el microorganismo predominante (25%). Se concluye que existe relación entre la flora vaginal patógena y RPM en las adolescentes con embarazo a término.

The objective of this work was to determine the existing relation between vaginal flora and membrane premature failure, in pregnant adolescents who went to the consultation of Maternity “Dr. Armando Castillo Plaza” (MACP), pertaining to the Independent Service University Hospital of Maracaibo. The design of this study was explanatory, cuasi experimental. The population was represented by 80 pregnant adolescents, in the last trimester of gestation. The method of data collection was constituted by a customized interview and the data were gathered in a form conformed by open questions. All the patients were taken vaginal secretion culture identifying the vaginal flora present. As obtained results it were had population mainly affected was the greater adolescents of 17 years; initiating its sexual activity between the 15 and 17 years, which live in concubines and belong at Level V according to Graffar. The diagnose of MPF was made through the maneuver of Tanier and Test of Nitrazina with a period of 6-12 latency hours; the gestacional age was between the 37-38 weeks. The reported microorganisms were Gram positive bacilli in a 46%, combination of Gram positive and Gram negative bacilli in 16%, yeast in 15%, bacilli Gram negative 8% and human papiloma virus (HPV) 3%. Vaginal secretion culture was positive in 57% of the cases, being Candida albicans predominant microorganism (25%). One concludes that relation between the pathogenic vaginal flora exists and MPF in the adolescents with pregnancy upon maturity.