Incisivo central único de la línea media del maxilar, holoprosencefalia y estenosis congènita del orificio nasal anterior en un recién nacido prematuro: a propósito de un caso / Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report

El síndrome del incisivo central único de la línea media del maxilar es un trastorno raro que implica anomalías de la línea media, como holoprosencefalia, anomalías de las fosas nasales, fisura palatina, labio leporino, hipotelorismo, microcefalia y panhipopituitarismo. La estenosis congénita del orificio nasal anterior es una causa mortal de dificultad respiratoria neonatal debido al estrechamiento del orificio nasal anterior, y podría confundirse con la atresia de coanas. En este informe, presentamos el caso de un recién nacido con síndrome del incisivo central único de la línea media del maxilar acompañado de otras anomalías, tales como holoprosencefalia, estenosis del orificio nasal anterior, microcefalia y panhipopituitarismo. El cariotipado mostró una deleción heterocigota en el gen SIX3 en la región 2p21, que produjo una forma más grave de holoprosencefalia.

Solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. Congenital nasal pyriform aperture stenosis is a lethal cause of neonatal respiratory distress due to narrowing of the pyriform aperture anteriorly and it can be confused with choanal atresia. In this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. Chromosomal analysis showed heterozygous SIX3 gene deletion at 2p21 region resulting in a more severe form of holoprosencephaly.

Rol de los marcadores ecográficos secundarios de primer trimestre para la detección de trisomía 21 / Role of first trimester secondary ultrasound markers for trisomy 21 detection

OBJETIVO: Analizar los resultados de los marcadores ecográficos secundarios (hueso nasal, onda a del ductus venoso y regurgitación tricuspídea) y valorar su efectividad para la detección de trisomía 21 y su utilidad para la reducción del número de pruebas invasivas. MÉTODOS: Tras la realización del test combinado de primer trimestre a toda paciente con un riesgo entre 1/101-1/1000 se realizó la valoración de los marcadores secundarios. RESULTADOS: Desde Enero de 2014 a Mayo de 2015 se realizaron 2.660 test combinados del primer trimestre valorándose la edad materna, la traslucencia nucal y la PAPP-A y ßhCG, teniendo una sensibilidad del 90% y una tasa de falsos positivos del 3,2%. Hubo 10 fetos con trisomía 21. La sensibilidad de hueso nasal, ductus venoso y regurgitación tricuspídea fue del 22,2%, 50% y 50% y la especificidad del 99,8%, 96,9% y 98,8% respectivamente. La sensibilidad global del test contingente fue del 90%, con una reducción de la tasa de falsos positivos al 1,6%, lo que se reduciría de 171 a 148 el número de amniocentesis. CONCLUSIÓN: El test contingente es una buena herramienta para reducir la tasa de falsos positivos respecto al test combinado sin disminuir la tasa de detección y con ello reducir la tasa de pruebas invasivas.

AIMS: To analyze the results of the secondary sonographic markers (nasal bone, wave ductus venosus and tricuspid regurgitation) and evaluate its effectiveness for the detection of trisomy 21 and thus reduce the number of invasive tests. METHODS: After completing the first trimester combined test, all patients with a risk between 1/101-1/1000 were evaluated the secondary sonographic markers. RESULTS: From January 2014 to May 2015 2660 combined test being assessed maternal age, nuchal translucency and PAPP-A and ßhCG were performed, with a sensitivity of 90% and a false positive rate of 3.2%. 10 fetuses with trisomy 21 were observed. The sensitivity of nasal bone, ductus venosus and tricuspid regurgitation was 22.2%, 50% and 50% and specificity was 99.8%, 96.9% and 98.8% respectively. The overall sensitivity of contingent test was 90%, with a reduction in false positive rate to 1.6%, which would decrease the number of amniocentesis from 171 to 148. CONCLUSION: The contingent test is a good tool to reduce the rate of false positives with respect to the combined test without decreasing the detection rate and thereby reduce the rate of invasive testing.

Radiographic evaluation of orthodontic treatment by means of four different cephalometric superimposition methods

INTRODUCTION: Despite discussion on the merit of various cephalometric superimposition methods, there remains a need to assess which one can be used in daily practice with reasonably accuracy and less working time. OBJECTIVE: The aim of this study was to investigate four methods of cephalometric superimposition by means of assessing the longitudinal changes in craniofacial morphology caused by growth and response of adolescents with Class I malocclusion to orthodontic treatment involving first premolar extraction. METHODS: Pretreatment (T1) and post-treatment (T2) standardized lateral cephalometric radiographs of 31 adolescents (20 females and 11 males), with Angle Class I malocclusion and indication of premolar extraction, participated in this study. Radiographs were digitized, traced and had structures identified by means of a cephalometric software. Four superimposition methods were used: Björk structural method, Steiner/Tweed SN line, Ricketts N-Ba line at N-point and Ricketts N-Ba line at CC-point. Positional changes were quantified by horizontal and vertical linear changes in the following cephalometric landmarks: anterior/posterior nasal spine (ANS and PNS), gnathion (Gn), Gonion (Go), Pogonion (Pog), A-point and B-point. Differences between T1 and T2 in horizontal and vertical positional changes for all superimposition methods were assessed by one-way analysis of variance (ANOVA) and Bonferroni correction (p < 0.05). RESULTS: There were no statistically significant differences among the cephalometric superimposition methods or when patients' sex was considered. CONCLUSION: Björk structural method, Steiner/Tweed SN line, Ricketts N-Ba line at N-point and Ricketts N-Ba line at CC-point methods were reliable and presented similar precision when the overall facial changes due to active growth and/or orthodontic treatment were examined. .

INTRODUÇÃO: apesar dos debates sobre os méritos dos vários métodos de sobreposição cefalométrica, ainda há necessidade de se avaliar quais deles poderiam ser utilizados na prática diária, com razoável precisão e menor tempo de trabalho. OBJETIVO: o objetivo desta pesquisa foi investigar quatro métodos de sobreposição cefalométrica, avaliando as mudanças longitudinais na morfologia craniofacial causadas pelo crescimento e resposta ao tratamento, em adolescentes com má oclusão de Classe I tratados ortodonticamente com extração de primeiros pré-molares. MÉTODOS: foram usadas telerradiografias laterais pré-tratamento (T1) e pós-tratamento (T2) de 31 adolescentes (20 do sexo feminino e 11 do sexo masculino), com Classe I de Angle e indicação de extração de pré-molares. As radiografias foram digitalizadas, traçadas e as estruturas, identificadas com um software cefalométrico (Radiocef, Radio Memory, Belo Horizonte, Brasil). Quatro métodos de sobreposição foram utilizados para avaliar mudanças de posição devidas ao crescimento e/ou tratamento: método Estrutural de Björk; método Steiner/Tweed linha SN; Ricketts linha N-Ba no ponto N; e Ricketts linha N-Ba no ponto CC. As mudanças posicionais avaliadas pelos métodos de sobreposição foram quantificadas por mudanças lineares horizontais e verticais nos seguintes pontos cefalométricos: espinha nasal anterior (ENA), espinha nasal posterior (ENP), gnátio (Gn), Gônio (Go), Pogônio (Pog), Ponto A e Ponto B. Mudanças de posição horizontal e vertical entre T1 e T2 para todos os métodos de sobreposição foram avaliadas por análise de variância (ANOVA) e teste de Bonferroni (p < 0,05). RESULTADOS: não houve diferença estatística significativa entre os métodos de sobreposição cefalométrica em toda a amostra ou quando o sexo dos pacientes foi considerado. CONCLUSÃO: de acordo com a metodologia aplicada nesse estudo, os métodos de sobreposição cefalométrica Estrutural de Björk, de Steiner/Tweed linha SN, ...

The subtle anatomical structures of normal nasal bone in MSCT image and forensic identification / 法医学杂志

OBJECTIVE@#To summarize the subtle anatomical structures of the normal nasal bone in multi-slice spiral CT (MSCT) image through the observation of the three-dimensional images.@*METHODS@#One hundred and twenty volunteers who had no nasal trauma and disease history were collected. The nasal was scanned using MSCT. Raw data was reconstructed into bone window images (slice thickness 0.6 mm, slice interval 0.5 mm), and then the images were imported into Syngo Imaging XS software to reconstruct three-dimensional images and to summarize the nasal bone's subtle anatomical structures.@*RESULTS@#The subtle anatomy of normal nasal bone generally included four seams, two holes and one edge. The four seams were left and right nasal-maxillary suture, nasal-frontal seam, and internasal suture. The two holes were left and right nasal aperture. The edge of the nasal was the lower edge of the nasal bone. In addition, there was suture bone in internasal suture in some normal nose. The nasal aperture mostly was hole-like, but some nasal apertures were line shape. The nasal edge can be divided into flat type, wave-shaped type, inverted spike type, hook-shaped type and others.@*CONCLUSION@#The anatomy diversity and individual differences in nasal bone are large. MSCT and three-dimensional image reconstruction techniques, combined with the history of trauma could distinguish between the normal anatomy and fractures.

Piriform Aperture Morphometry and Nasal Bones Morphology in Brazilian Population by Postero-Anterior Caldwell Radiographys / Morfometría de la Apertura Piriforme y Morfología de los Huesos Nasales en la Población Brasileña por la Radiografía Postero-Anterior de Caldwell

Piriform aperture and nasal bone contribute to the formation of the nose. Its morphology varies according to ethnic group and gender. The piriform apertures and nasal bones of 97 individuals were examined radiographically through Caldwell radiographic technique and the types of nasal bones were classified according to Hwang et al. (2005). The width, height and area of piriform aperture were measured to demonstrate the difference according to gender. Statistical analysis was performed from the Student t test and analysis of variance (ANOVA). The most frequent type of nasal bone was A, and D was the most uncommon in both genders. In the Student t test significant differences between genders, height, width and area of the piriform aperture were obtained and were larger in males when compared to females. The dimensions of the piriform aperture were higher in males when compared to females, and therefore may be used as parameter for the distinction of gender in Brazilian population. The type A of nasal bone was the most frequent in the Brazilian population, contributing to ethnic differentiation in human identification.

La apertura piriforme y el hueso nasal contribuyen a la formación de la nariz. Su morfología varía de acuerdo a los grupos étnicos y al sexo. Este estudio evaluó la morfología de la apertura piriforme y el hueso nasal y su relación con el sexo. Las aperturas piriformes y los huesos nasales de 97 personas fueron examinados radiográficamente mediante la técnica radiográfica de Caldwell, y los tipos de huesos nasales se clasificaron de acuerdo con Hwang et al. (2005). Se midió el ancho, la altura y el área de la apertura piriforme para demostrar las diferencias por sexo. El análisis estadístico se realizó a partir de la prueba t de Student y análisis de varianza (ANOVA). El tipo más frecuente de hueso nasal fue la A, y la D fue la menos común, en ambos sexos. En la prueba t de Student se obtuvo diferencias significativas entre los sexos, altura, ancho y área de la apertura piriforme, las que fueron mayores en hombres en comparación a las mujeres. Las dimensiones de la apertura piriforme fueron mayores en los hombres que en las mujeres, por lo que se puede utilizar como parámetro para la distinción de sexo en la población brasileña. En la población brasileña el tipo A de hueso nasal fue el más frecuente, lo que contribuye para la diferenciación étnica en la identificación humana.