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Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with biallelic variants in ANAPC1 and juvenile cataracts, and type II, with biallelic variants in RECQL4, increased cancer risk and no cataracts. We report on six Brazilian probands and two siblings of Swiss/Portuguese ancestry presenting with severe short stature, widespread poikiloderma and congenital ocular anomalies. Genomic and functional analysis revealed compound heterozygosis for a deep intronic splicing variant in trans with loss of function variants in DNA2, with reduction of the protein levels and impaired DNA double-strand break repair. The intronic variant is shared by all patients, as well as the Portuguese father of the European siblings, indicating a probable founder effect. Biallelic variants in DNA2 were previously associated with microcephalic osteodysplastic primordial dwarfism. Although the individuals reported here present a similar growth pattern, the presence of poikiloderma and ocular anomalies is unique. Thus, we have broadened the phenotypical spectrum of DNA2 mutations, incorporating clinical characteristics of RTS. Although a clear genotype-phenotype correlation cannot be definitively established at this moment, we speculate that the residual activity of the splicing variant allele could be responsible for the distinct manifestations of DNA2-related syndromes.

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Objetivo: analisar os fatores maternos e neonatais associados às anomalias congênitas no estado do Rio Grande do Sul. Método: estudo transversal com dados secundários. A amostra foi composta por 5.830 nascidos vivos entre 2012 a 2015. Foram analisadas variáveis maternas e neonatais que descreviam aspectos demográficos e de saúde. Aplicou-se estatística descritiva e inferencial. Resultados: a ocorrência de anomalias congênitas esteve presente em 0,8% dos nascidos vivos e as mais frequentes foram relacionadas ao sistema osteomuscular, circulatório e geniturinário. Houve associação estatística significativa entre mães com filhos com histórico de natimortalidade prévia, prematuridade e menor índice de Apgar no 5º minuto com a ocorrência de anomalias. Conclusão: o estudo analisou os fatores maternos e neonatais associados às anomalias congênitas, demonstrando os grupos com maior risco para as anomalias congênitas. Ressalta-se a importância de proporcionar acesso aos cuidados pré-natais, considerando as condições de vida e trabalho da gestante.

Objective: to analyze maternal and neonatal factors associated with congenital anomalies in the state of Rio Grande do Sul. Method: cross-sectional study with secondary data. The sample consisted of 5,830 live births between 2012 and 2015. Maternal and neonatal variables that described demographic and health aspects were analyzed. Descriptive and inferential statistics were applied. Results: the occurrence of congenital anomalies was present in 0.8% of live births and the most frequent were related to the musculoskeletal, circulatory and genitourinary systems. There was a significant statistical association between mothers with children with a history of previous stillbirth, prematurity and a lower Apgar score in the 5th minute with the occurrence of anomalies. Conclusion: the study analyzed maternal and neonatal factors associated with congenital anomalies, demonstrating the groups at highest risk for congenital anomalies. The importance of providing access to prenatal care is highlighted, considering the living and working conditions of the pregnant woman.

Objetivo: analizar factores maternos y neonatales asociados a anomalías congénitas en el estado de Rio Grande do Sul. Método: estudio transversal con datos secundarios. La muestra estuvo compuesta por 5.830 nacidos vivos entre 2012 y 2015. Se analizaron variables maternas y neonatales que describieron aspectos demográficos y de salud. Se aplicó estadística descriptiva e inferencial. Resultados: la aparición de anomalías congénitas estuvo presente en el 0,8% de los nacidos vivos y las más frecuentes estuvieron relacionadas con los sistemas musculoesquelético, circulatorio y genitourinario. Hubo asociación estadística significativa entre madres con hijos con antecedentes de muerte fetal previa, prematuridad y menor puntaje de Apgar en el 5.° minuto con la aparición de anomalías. Conclusión: el estudio analizó factores maternos y neonatales asociados a anomalías congénitas, demostrando los grupos de mayor riesgo para anomalías congénitas. Se destaca la importancia de brindar acceso a la atención prenatal, considerando las condiciones de vida y trabajo de la gestante.

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Objective Individuals with cleft lip and palate (CLP) are at a high risk of developing obstructive sleep apnea (OSA). Hypothetically, the severity of OSA might be associated with the morphology of the upper airway (UAW) and the characteristics of the airflow. Thus, the present study aimed to assess and compare, in adults with CLP and skeletal class-III discrepancy, with or without OSA, simulations of airflow resistance and pressure according to the geometrical characteristics of the UAW and cephalometric parameters. Materials and Methods According to the results of type-I polysomnography tests, the sample ( n = 21) was allocated in 2 groups: 1) without OSA (N-OSA; n = 6); and 2) with OSA (OSA; n = 15). Cephalometric measurements were performed on the cone-beam computed tomography (CBCT) scans of the groups. After three-dimensional (3D) reconstructions, the volume (V) and minimal cross-sectional area (mCSA) of the UAW were generated. Computational fluid dynamics (CFD) simulations were used to assess key airflow characteristics. The results were presented at a significance level of 5%. Results The UAW pressure values and airway resistance did not differ between the groups, but there was a tendency for more negative pressures (26%) and greater resistance (19%) in the OSA group. Volume and mCSA showed a moderate negative correlation with resistance and pressure. The more inferior the hyoid bone, the more negative the pressures generated on the pharyngeal walls. Conclusion The position of the hyoid bone and the geometry of the UAW (V and mCSA) exerted effects on the airway-airflow resistance and pressure. However, key airflow characteristics did not differ among subjects with CLP, were they affected or not by OSA.

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A mão em fenda é uma deformidade congênita rara caracterizada por uma deficiência longitudinal dos raios centrais da mão, podendo estar associada a outras malformações. Devido ao amplo espectro de manifestações, o tratamento de mãos em fenda é desafiador. Este estudo objetiva apresentar as classificações, técnicas cirúrgicas mais indicadas e seguimentos adotados conforme a manifestação clínica. Foi realizada uma pesquisa nos bancos de dados Web of Science, PubMed, Scopus, Cochrane e Embase, descritores e termos relacionados à anomalia mão em fenda típica. Trinta e dois artigos foram incluídos, sendo analisados quanto a classificação da anomalia, classificação da gravidade de expressão, técnicas cirúrgicas e estudos com informações da intervenção cirúrgica adotada para uma coorte de pacientes. Considerando que estudos sobre mão em fenda são diretamente afetados pelas descobertas embriológicas, genéticas e de biologia molecular, diferentes classificações foram descritas e diversos estudos de complementação de técnicas cirúrgicas já existentes foram encontrados. Estudos inovadores são escassos. A padronização na descrição das técnicas e resultados, além de pesquisas de melhor qualidade, poderiam elucidar lacunas ainda existentes em torno das opções de tratamento.

Cleft hand is a rare congenital deformity characterized by a longitudinal deficiency of the central rays of the hand, which may be associated with other malformations. Due to the wide spectrum of manifestations, the treatment is challenging. This study aims to present the most suitable classifications, surgical techniques and follow-up adopted according to the clinical manifestation. A search was performed in the databases Web of Science, PubMed, Scopus, Cochrane and Embase, descriptors and terms related to the hand anomaly in a typical cleft. Thirty-two articles were included and analyzed regarding the classification of the anomaly, classification of the severity of expression, surgical techniques and studies with information on the surgical intervention adopted for a cohort of patients. Considering that studies about cleft hand could be directly affected by embryological, genetic and molecular biology discoveries, different classifications have been described and several studies to complement existing surgical techniques have been found. Innovative studies are scarce. Standardization in the description of techniques and results, in addition to better quality research, could elucidate gaps that still exist around treatment options.

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ABSTRACT Introduction: Tufting enteropathy is a rare cause of congenital diarrhea in neonates. It is characterized by the abnormal distribution of epithelial adhesion molecules, which causes enterocytes to shed into the lumen, forming the characteristic tufts. Case summary: A 15-day-old female neonate was taken by her parents to the emergency department of a tertiary care hospital due to diarrheal stools she had been experiencing since birth. The patient presented with dehydration, abnormal weight loss, metabolic acidosis, and acute kidney failure. She received treatment with alizapride, loperamide, zinc sulfate, and probiotics, but after 75 days of treatment she was still symptomatic. An upper tract endoscopy and colonoscopy were performed, finding flattening of the villi and lymphoid cells in the lamina propria. However, the symptoms persisted, and she died at the age of ten months. A post-mortem exome sequencing reported tufting enteropathy. Conclusions. When congenital diarrhea is present, tufting enteropathy should be considered. An early molecular study would allow to evaluate the possibility of performing an intestinal transplant or modifying the treatment to meet the patient's palliative care needs.

RESUMEN Introducción. La enteropatía en penacho es una causa rara de diarrea congénita en neonatos; esta se caracteriza por una alteración de la adhesión epitelial que ocasiona desprendimiento de enterocitos hacia el lumen y, en consecuencia, forma los característicos penachos. Se describe el caso de una paciente con esta patología. Presentación del caso. Neonata de 15 días de vida, quien fue llevada por sus padres al servicio de urgencias de un hospital de tercer nivel debido a que desde su nacimiento tuvo deposiciones diarreicas y a causa de esto presentó deshidratación, pérdida de peso, acidosis metabólica e insuficiencia renal aguda. La paciente recibió manejo con alizaprida, loperamida, sulfato de zinc y probióticos, pero a los 75 días de tratamiento continuaba sintomática. Se le practicó una endoscopia de vías digestivas y una colonoscopia que mostraron aplanamiento de las vellosidades e infiltrado de células linfoides en la lámina propia. Los síntomas continuaron y la menor falleció a los 10 meses de nacida. El resultado del exoma post mortem reportó enteropatía en penacho. Conclusiones. Ante la presencia de diarrea congénita, se debe sospechar de una enteropatía en penacho y considerar el estudio molecular temprano, pues este permite evaluar la posibilidad de realizar un trasplante intestinal o modificar el tratamiento según las necesidades de cuidado paliativo del paciente.

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BACKGROUND: Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations. To date, pathogenic variants have been identified in three genes involved in the EDN1-DLX5/6 pathway (PLCB4, GNAI3 and EDN1) and some cases remain unsolved. Here we studied a large unsolved four-generation family. METHODS: We performed linkage analysis, resequencing and Capture-C to investigate the causative variant of this family. To test the pathogenicity of the CNV found, we modelled the disease in patient craniofacial progenitor cells, including induced pluripotent cell (iPSC)-derived neural crest and mesenchymal cells. RESULTS: This study highlights a fourth locus causative of ARCND, represented by a tandem duplication of 430 kb in a candidate region on chromosome 7 defined by linkage analysis. This duplication segregates with the disease in the family (LOD score=2.88) and includes HDAC9, which is located over 200 kb telomeric to the top candidate gene TWIST1. Notably, Capture-C analysis revealed multiple cis interactions between the TWIST1 promoter and possible regulatory elements within the duplicated region. Modelling of the disease revealed an increased expression of HDAC9 and its neighbouring gene, TWIST1, in neural crest cells. We also identified decreased migration of iPSC-derived neural crest cells together with dysregulation of osteogenic differentiation in iPSC-affected mesenchymal stem cells. CONCLUSION: Our findings support the hypothesis that the 430 kb duplication is causative of the ARCND phenotype in this family and that deregulation of TWIST1 expression during craniofacial development can contribute to the phenotype.

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Objectives Congenital malformations constitute the first cause of morbidity and mortality in childhood in Latin America. That is why, since 2001, a surveillance system for congenital malformations has been implemented in Bogota - Colombia. However, despite the increase in detection, an impact on treatment has not been achieved. The present study describes our experience with a novel social program focused on congenital urologic disorders. Methods The present manuscript is a retrospective observational study. We reviewed two national databases containing patients with congenital malformations. Patients were actively contacted to verify the status of the malformations. Children in whom the malformation was confirmed were offered a free consultation with a multidisciplinary group. After screening for surgical indications, patients were scheduled for surgery. Results Between November 2018 and December 2019, 60 patients were identified. In total 44, attended the consultation; the remaining did not attend due to financial or travel limitations. The most common condition assessed was hypospadias. In total, 29 patients underwent surgery. The total cost of care was of US$ 5,800. Conclusions Active search improves attention times and reduces the burden of disease. The limitations to be resolved include optimizing the transportation of patients and their families, which is a frequent limitation to access health care.

Objetivos Las malformaciones congénitas corresponden a la principal causa de morbimortalidad en la infancia en América Latina, motivo por el cual desde el 2001 se viene implementando un sistema de vigilancia epidemiológica de malformaciones congénitas en Bogotá, Colombia. Sin embargo, a pesar del aumento en la cobertura del reporte obligatorio, no se ha logrado un impacto sobre su tratamiento. Este estudio busca mostrar nuestra experiencia con un programa integral de pacientes con malformaciones urológicas congénitas. Métodos El presente es un estudio observacional retrospectivo. Los menores con malformaciones congénitas fueron identificados en dos bases de datos nacionales que incluyen pacientes con malformaciones congénitas. Los pacientes reportados fueron contactados telefónicamente para verificar el estado actual de la malformación. A aquellos niños en quienes se les confirmó la malformación, se les ofreció de manera gratuita una consulta con un grupo multidisciplinario. Una vez confirmadas las indicaciones quirúrgicas, fueron llevados a cirugía. Resultados Se identificaron 60 pacientes entre noviembre del 2018 y diciembre de 2019. De los pacientes identificados, 44 acudieron a consulta. Los demás no asistieron por limitaciones económicas. La principal condición valorada fue hipospadias. En total, 29 pacientes fueron llevados a cirugía. El costo total de la atención de estos pacientes fue de 22 millones de pesos colombianos. Conclusiones La búsqueda activa mejora los tiempos de atención y reduce la carga de la enfermedad. Una de las limitaciones aun por resolver es optimizar el transporte de los pacientes y sus familias, que resulta una limitación frecuente para el acceso a la salud.

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Background Congenital urological anomalies are present in 4.3/10 thousand newborns, and their association with other anomalies may increase the overall mortality and disability. The present study establishes the risk of having congenital urological anomalies presenting associated cardiopathies. Methods We conducted a retrospective case-control study using the Latin American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latino Americano de Malformaciones Congénitas, ECLAMC, in Spanish). The analysis included all registered cases of congenital urological malformation from 1967 to 2019. Patients with or without associated heart defects were included for the statistical analysis. Odds ratios (ORs) were calculated using a 95% confidence interval (95% CI). We compared the variables with the Chi-squared test and analysis of variance (ANOVA). The statistical analysis was performed using the Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, United States) software, version 27.0. Values of p < 0.05 were considered statistically significant. Results A total of 7,767,161 newborns were evaluated, and 17,834 genital and upper urinary tract malformations were identified. Of these, 64.2% were genital anomalies, and 35.8% were abnormalities of the upper urinary tract. Genitourinary malformations and concomitant congenital heart defects (GU + C) were observed in 3.5% of the cases. Subjects with GU + C had a higher number of malformations (4.59 ± 2.3) than patients without heart defects (1.53 ± 1.58) (p < 0.000). The OR was of 3.61 (range: 1.86­7.00) for cloacal exstrophy, of 4.01 (range: 3.14­5.12) for imperforate anus, of 5.52 (range: 3.92­7.78) for horseshoe kidney, and of 13.7 (range: 6.65­28.22) for trisomy 21 (Down syndrome) with malformations of the upper urinary tract. Conclusion The association of congenital heart defects with urological anomalies is higher for complex congenital anomalies such as imperforate anus, cloacal exstrophy, and ho

Introducción Las malformaciones congénitas urológicas están presentes en 4,3/10 mil, y su asociación con otros defectos puede aumentar la mortalidad global y la discapacidad. Este estudio analiza la presentación de las malformaciones congénitas urológicas asociadas a las cardiopatías congénitas. Métodos Este es un estudio retrospectivo de casos y controles que usa el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas (ECLAMC). Se incluyeron todos los casos registrados de malformaciones congénitas urológicas de 1967 a 2019, y todos los casos con y sin defectos cardiacos. Se calculó la razón de disparidad (RD) usando un intervalo de confianza del 95% (IC 95%). Se probó la hipótesis con el Chi-cuadrado y análisis de la varianza (analysis of variance, ANOVA, en inglés). Se realizó el análisis estadístico por medio del programa Statistical Package for the Social Sciences (IBM SPSS Statistics for Windows, IBM Corp., Armonk, NY, Estados Unidos), versión 27.0. Se consideró la significancia estadística con valores de p < 0,05. Resultados Se evaluaron 7.767.161 recién nacidos, y se identificaron 17.834 malformaciones genitales y del tracto urinario superior. De estas, 64,2% fueron genitales, y 35,8%, de vías urinarias superiores. El 3,5% de los casos tenían malformaciones genitourinarias y defectos cardiacos congénitos concomitantes (GU + C). Aquellos con GU + C tenían mayor número de malformaciones (4,59 ± 2,3) que los pacientes sin defectos cardiacos (1,53 ± 1,58) (p < 0,000). La RD fue de 3.61 (rango: 1,86­700) para la extrofia cloacal, de 4,01 (3,14­5,12) para el ano imperforado, de 5,52 (3,92­7,78) para el riñón en herradura, y de 13,7 (6,65­28,22) para la trisomía 21 (síndrome de Down) con malformaciones del tracto urinario superior. Conclusión La asociación entre defectos cardiacos congénitos y anomalías urológicas es significativa en malformaciones congénitas complejas como el ano imperforado, la extrofia cloacal, y el riñón en herradura. Los pacientes con síndrome de Down y malformaciones urológicas tienen la mayor probabilidad.

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OBJECTIVE: To describe perinatal and neonatal outcomes in newborns exposed to SARS-CoV-2. METHODS: A systematic review was conducted by searching PubMed Central, LILACS, and Google Scholar using the keywords 'covid ' AND 'newborn' OR 'child' OR 'infant,' on 18 March 2020, and again on 17 April 2020. One researcher conducted the search and extracted data on demographics, maternal outcomes, diagnostic tests, imaging, and neonatal outcomes. RESULTS: Of 256 publications identified, 20 met inclusion criteria and comprised neonatal outcome data for 222 newborns whose mothers were suspected or confirmed to be SARS-CoV-2 positive perinatally (17 studies) or of newborns referred to hospital with infection/pneumonia (3 studies). Most (12 studies) were case-series reports; all were from China, except three (Australia, Iran, and Spain). Of the 222 newborns, 13 were reported as positive for SARS-CoV-2; most of the studies reported no or mild symptoms and no adverse perinatal outcomes. Two papers among those from newborns who tested positive reported moderate or severe clinical characteristics. Five studies using data on umbilical cord blood, placenta, and/or amniotic fluid reported no positive results. Nine studies reported radiographic imaging, including 5 with images of pneumonia, increased lung marking, thickened texture, or high-density nodular shadow. Minor, non-specific changes in biochemical variables were reported. Studies that tested breast milk reported negative SARS-CoV-2 results. CONCLUSIONS: Given the paucity of studies at this time, vertical transmission cannot be confirmed or denied. Current literature does not support abstaining from breastfeeding nor separating mothers and newborns. Further evidence and data collection networks, particularly in the Americas, are needed for establishing definitive guidelines and recommendations.

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Objective. To describe perinatal and neonatal outcomes in newborns exposed to SARS-CoV-2. Methods. A systematic review was conducted by searching PubMed Central, LILACS, and Google Scholar using the keywords 'covid ' AND 'newborn' OR 'child' OR 'infant,' on 18 March 2020, and again on 17 April 2020. One researcher conducted the search and extracted data on demographics, maternal outcomes, diagnostic tests, imaging, and neonatal outcomes. Results. Of 256 publications identified, 20 met inclusion criteria and comprised neonatal outcome data for 222 newborns whose mothers were suspected or confirmed to be SARS-CoV-2 positive perinatally (17 studies) or of newborns referred to hospital with infection/pneumonia (3 studies). Most (12 studies) were case-series reports; all were from China, except three (Australia, Iran, and Spain). Of the 222 newborns, 13 were reported as positive for SARS-CoV-2; most of the studies reported no or mild symptoms and no adverse perinatal outcomes. Two papers among those from newborns who tested positive reported moderate or severe clinical characteristics. Five studies using data on umbilical cord blood, placenta, and/or amniotic fluid reported no positive results. Nine studies reported radiographic imaging, including 5 with images of pneumonia, increased lung marking, thickened texture, or high-density nodular shadow. Minor, non-specific changes in biochemical variables were reported. Studies that tested breast milk reported negative SARS-CoV-2 results. Conclusions. Given the paucity of studies at this time, vertical transmission cannot be confirmed or denied. Current literature does not support abstaining from breastfeeding nor separating mothers and newborns. Further evidence and data collection networks, particularly in the Americas, are needed for establishing definitive guidelines and recommendations.(AU)

Objetivo. Describir los resultados perinatales y neonatales de los recién nacidos expuestos al SARS-CoV-2. Métodos. Se realizó una revisión sistemática con búsqueda bibliográfica en PubMed Central, LILACS, y Google Scholar usando las palabras clave 'covid' Y 'newborn' O 'child' O 'infant', el 18 de marzo de 2020, y de nuevo el 17 de abril de 2020. Un investigador llevó a cabo la búsqueda y extrajo datos sobre demografía, resultados maternos, pruebas de diagnóstico, imágenes y resultados neonatales. Resultados. De las 256 publicaciones identificadas, 20 cumplieron los criterios de inclusión y comprendían datos de resultados neonatales de 222 recién nacidos cuyas madres eran casos sospechosos o positivos confirmados de SARS-CoV-2 en el período perinatal (17 estudios) o bien recién nacidos internados en el hospital con infección/neumonía (3 estudios). La mayoría (12 estudios) eran informes de series de casos; todos procedían de China, excepto tres (de Australia, España e Irán). De los 222 recién nacidos, 13 tenían resultados positivos para SARS-CoV-2; en la mayoría de los estudios se informó que los recién nacidos eran asintomáticos o tenían síntomas leves y que no se habían producido resultados perinatales adversos. Entre los estudios con recién nacidos positivos, en dos se informaron características clínicas moderadas o graves. En cinco estudios se analizó la sangre del cordón umbilical, la placenta o el líquido amniótico y no se informaron resultados positivos. En nueve estudios se reportaron imágenes radiográficas, entre ellos cinco con imágenes de neumonía, aumento de la trama pulmonar, textura engrosada u opacidades nodulares de alta densidad. Se informaron alteraciones menores e inespecíficas de los parámetros bioquímicos. En los estudios en que se analizó la leche materna se informaron resultados negativos para el SARS-CoV-2.(AU)

Objetivo. Descrever os resultados perinatais e neonatais dos recém-nascidos expostos à SARS-CoV-2. Métodos. Uma revisão sistemática com pesquisa bibliográfica em PubMed Central, LILACS e Google Scholar foi realizada utilizando as palavras-chave 'covid' E ('newborn' OU 'child' OU 'infant') em 18 de março de 2020, e novamente em 17 de abril de 2020 por um pesquisador. Foram analisados dados sobre demografia, resultados maternos, testes de diagnóstico, técnicas de imagem e resultados neonatais. Resultados. Das 256 publicações identificadas, 20 preenchiam os critérios de inclusão e incluíam dados de resultados neonatais de 222 recém-nascidos cujas mães eram suspeitas ou positivas para a SARSCoV-2 no período perinatal (17 estudos) ou recém-nascidos internados no hospital com infecção/pneumonia (3 estudos). A maioria (12 estudos) eram relatos de séries de casos; todos, exceto três (Austrália, Irão e Espanha), eram provenientes da China. Dos 222 recém-nascidos, 13 eram positivos para SARS-CoV-2; a maioria dos estudos relatou que os recém-nascidos eram assintomáticos ou tinham sintomas leves e que não foram observados resultados perinatais adversos. Entre os estudos com recém-nascidos positivos, dois descreviam características clínicas moderadas ou graves. O sangue do cordão umbilical, a placenta ou o líquido amniótico foram analisados em cinco estudos, não tendo sido relatados resultados positivos. Imagens radiográficas foram descritas em nove estudos, incluindo cinco com imagens de pneumonia, aumento da trama pulmonar, espessamento da textura ou opacidades nodulares de alta densidade. Foram relatadas alterações menores e não específicas dos parâmetros bioquímicos. Estudos que analisaram leite materno mostraram resultados negativos para SARS-CoV-2. Conclusões. Dada a escassez de estudos, neste momento a transmissão vertical não pode ser confirmada ou excluída. A literatura atual não apoia a abstenção da amamentação ou a separação dos recém-nascidos das suas mães. São necessárias mais provas e mais dados, especialmente na Região das Américas, para estabelecer orientações e recomendações definitivas.(AU)

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Fundamento: en Cuba, donde se concibe la salud como un componente principal de la calidad de vida, se desarrolla desde hace años un programa para la detección neonatal de hipotiroidismo congénito, enfermedad endocrina más frecuente en esa etapa de la vida, que constituye la causa más común de retraso mental prevenible. Objetivo: caracterizar la positividad del primer ensayo, la incidencia de la enfermedad y la cobertura del Programa de Pesquisaje Neonatal del Hipotiroidismo Congénito en la provincia de Cienfuegos. Métodos: estudio descriptivo retrospectivo que incluyó a todos los recién nacidos en Cienfuegos durante los años 2012 al 2016. Se empleó revisión documental de registros sanitarios. Se distribuyeron los resultados de la pesquisa teniendo en cuenta el número de recién nacidos vivos estudiados (cobertura), los casos positivos en la primera determinación (positividad) y los confirmados (incidencia), según áreas geográficas de la provincia y años, expresados en porcientos y tasas. Resultados: se obtuvo 100 por ciento de cobertura para el estudio. Se observó una distribución heterogénea de los resultados positivos de la primera determinación de laboratorio entre las regiones y entre esta determinación y la confirmación en algunos territorios. La tasa de incidencia de hipotiroidismo congénito en la provincia fue de 0, 23 por cada 1000 recién nacidos vivos, todos del sexo femenino. Conclusiones: los resultados apuntan hacia un exitoso programa de pesquizaje en la provincia, perfectible en algunos aspectos, sobre todo en la fase pre analítica de los ensayos de laboratorio para mantener y lograr resultados superiores en la aplicación del programa.

Foundation: in Cuba, where health is conceived as a main component of quality of life, a program for early detection of congenital hypothyroidism is developed. This is the most endocrine disease in this period of life which is the most common cause of preventive mental retardation.Objective: to characterize the positiveness of the first trial, the incidence of the disease and the coverage of the Inquiry Neonatal Program of Congenital Hypothyroidism in the Cienfuegos Province. Methods: retrospective descriptive study which included all newborns in Cienfuegos from 2012 to 2016. A sanitary documentary review was done. The inquiry results were taken into consideration the number of studied alive newborns (coverage), the positive cases in the first determination (positiveness) and the confirmed ones (incidence), according to the geographical areas of the province and years expressed in percentages and rates. Results: a 100% of coverage was achieved for the study. A heterogeneous distribution was observed of the positive results of the first laboratory determination and the confirmation in some territories. The incidence rate of congenital hypothyroidism was 0, 23 for every 1000 born alive, all from the female sex. Conclusion: the results show the success of the Inquiry Program in the province which may be improved in some aspects mainly in pre-analytical stage of the laboratory trials to maintain its results and achieve better ones.

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Abstract: Rapidly involuting congenital hemangioma is a rare vascular tumor that generally has a good prognosis. The authors describe a case of a newborn girl with a left cervical vascular lesion. Image exams were performed, and the lesion slowly decreased, leaving redundant skin. Considering all of the findings, a final diagnosis of a rapidly involuting congenital hemangiomas was suspected.

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Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as congenital heart block. The typical cutaneous manifestations include erythematous, scaly, annular or arched lesions on the face, with slight central atrophy and photosensitivy, clinically and histologically similar to subacute cutaneous lupus. However, in some cases, the lesions may resemble those in cutis marmorata telangiectatica congenita, although this phenomenon is rare and only eight such cases have been reported to date. We report a case of cutaneous neonatal lupus with atypical lesions on the limbs, which had a reddish-purple marbled appearance, resembling the lesions in cutis marmorata telangiectatica congenita.

Lúpus neonatal é uma doença rara causada pela transferência de auto-anticorpos maternos para o feto, caracterizada por manifestações clínicas transitórias como cutâneas, hematológicas e hepatobiliares, ou permanentes como o bloqueio cardíaco congênito. As manifestações cutâneas típicas incluem lesões fotossensíveis descamativas, anulares ou arqueadas na face, com discreta atrofia central, clinica e histopatologicamente similares ao lúpus cutâneo subagudo. Entretanto, em alguns casos, as lesões podem lembrar aquelas da cutis marmorata telangiectatica congênita, mas esse fenômeno é raro e somente oito casos foram reportados até hoje. Nós relatamos aqui um caso de lúpus cutâneo neonatal com lesões atípicas nos membros de cor vermelho-purpúricas e aparência marmórea, semelhantes às lesões da cutis marmorata telangiectatica congênita.

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Neonatal lupus erythematosus is an autoimmune disease produced by the passage of maternal antinuclear antibodies and extractable nuclear antigen antibodies through the placenta. At the moment of the diagnosis, the mothers are asymptomatic in 40 to 60% of cases. The most common manifestations are cutaneous lesions and congenital heart block. The cutaneous findings are variable and usually begin within the first weeks or months of life. Congenital lupus erythematosus is a congenital variant of neonatal lupus erythematosus. We present one case of congenital lupus erythematosus and one case of neonatal lupus erythematous, showing the variability of this disease.

Lúpus eritematoso neonatal é uma doença auto-imune produzida pela passagem de anticorpos maternos antinucleares e anticorpos contra antígenos extraíveis nucleares através da placenta. No momento do diagnóstico, as mães são assintomáticas em 40 a 60% dos casos. As manifestações mais comuns são lesões cutâneas e bloqueio cardíaco congênito. Os achados cutâneos são variáveis e geralmente começam nas primeiras semanas ou meses de vida. Lúpus eritematoso congênito é uma variante do lúpus eritematoso neonatal. Apresentaremos um caso de lúpus eritematoso congênito e um caso de lúpus eritematoso neonatal, mostrando a variabilidade da doença.

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JUSTIFICATIVA E OBJETIVOS: O feto com diagnóstico pré-natal de massa cervical, ou qualquer outra doença que obstrua as vias aéreas, não deve ser abordado de forma convencional por apresentar dois desafios ao médico assistente logo após o parto: o tempo limitado para se estabelecer o acesso a vias aéreas potencialmente difíceis e a ausência de anestesia do neonato caso seja necessária instrumentação das vias aéreas. O procedimento EXIT (ex utero intrapartum treatment - EXIT procedure) consiste em manter a circulação fetoplacentária durante a cesariana até que as vias aéreas do feto estejam asseguradas. RELATO DOS CASOS: Mulher de 37 anos, G3P2, 38 semanas de gestação, apresentando polidrâmnio e feto com grande massa cervical diagnosticada por ultrassonografia pré-natal. A cesariana foi realizada com procedimento EXIT para possibilitar o acesso seguro das vias aéreas. Após a histerotomia, o feto foi intubado sob laringoscopia direta. O concepto foi transferido imediatamente para outra sala de cirurgia, onde foi realizada a ressecção do tumor cervical e a traqueostomia, ambos com sucesso. Mulher de 27 anos, G3P1A1, idade gestacional de 32 semanas, cujo feto tinha diagnóstico pré-natal de grande tumor em região oral. O tumor obstruía as vias aéreas do feto e foi programada traqueostomia com técnica EXIT, no entanto, foi possível intubar o recém-nascido sob laringoscopia direta, sendo então submetido à ressecção do tumor e encaminhado à UTI neonatal. CONCLUSÕES: Os relatos descrevem o uso bem sucedido de anestesia geral com isoflurano para a realização de cesariana seguida de procedimento EXIT em fetos com tumores obstruindo as vias aéreas.

BACKGROUND AND OBJECTIVES: Fetus prenatally diagnosed with neck tumors, or with any other disease that obstructs the airways, should not be treated conventionally, as the assistant physician has to face two challenges right after the infant's delivery: the limited time to establish the access to the potentially difficult airways and the lack of anesthesia of the neonate in case of instrumentation of the airways. The ex utero intrapartum treatment, i.e., the EXIT procedure consists of maintaining the fetoplacental circulation during the cesarean section, until the airways of the fetus be secured. CASE REPORTS: Female patient, 37 years old, G3P2, 38 weeks pregnant, having polyhydramnios and fetus diagnosed with large cervical masses by prenatal ultrasound. A cesarean section was performed using the EXIT procedure to enable safe access to the infant's airways. After hysterotomy, the fetus was intubated by direct laryngoscopy. The neonate was immediately transferred to another operating room, where cervical tumor resection of the neck tumor and tracheostomy were successfully performed. Female patient, 27 years old, G3P1A1, 32 weeks pregnant, whose fetus was prenatally diagnosed with a large oral tumor. As the tumor obstructed the fetus' airways, a tracheostomy was performed when the fetus underwent EXIT procedure. It was then possible to use direct laryngoscopy for neonate intubation. The fetus underwent tumor resection and was sent to the Neonatal Intensive Care Unit. CONCLUSIONS: Reports describe the successful use of general anesthesia with isoflurane for cesarean delivery followed by the EXIT procedure in fetus diagnosed with tumors obstructing the airways.

JUSTIFICATIVA Y OBJETIVOS: El feto con diagnóstico prenatal de masa cervical, o cualquier otra enfermedad que obstruya las vías aéreas, no debe ser abordado de forma convencional por presentar dos retos para el médico asistente inmediatamente después del parto: a) el tiempo limitado para establecer el acceso a las vías aéreas potencialmente difíciles y b) la ausencia de anestesia del neonato en el caso de que sea necesaria la instrumentación de las vías aéreas. El procedimiento EXIT (ex utero intrapartum treatment - EXIT procedure), consiste en mantener la circulación feto-placentaria durante la cesárea hasta que las vías aéreas del feto estén aseguradas. RELATO DE LOS CASOS: Mujer de 37 años, G3P2, 38 semanas de embarazo, presentando un polihidramnios y feto con gran masa cervical diagnosticada por ultrasonido prenatal. La cesárea fue realizada con el procedimiento EXIT para posibilitar el acceso seguro a las vías aéreas. Después de la histerotomía, el feto fue intubado bajo laringoscopia directa. Fue transferido inmediatamente a otra sala de cirugía, donde se le hizo la resección del tumor cervical y la traqueostomía, ambos con éxito. Mujer de 27 años, G3P1A1, edad gestacional de 32 semanas, cuyo feto tenía un diagnostico prenatal de gran tumor en la región oral. El tumor obstruía las vías aéreas del feto y fue programada la traqueostomía con técnica EXIT. Sin embargo, se pudo intubar al recién nacido bajo laringoscopia directa, siendo entonces sometido a la resección del tumor y derivado a la UCI neonatal. CONCLUSIONES: Los relatos describen el uso exitoso de la anestesia general con el isoflurano para la realización de la cesárea seguida de procedimiento EXIT en fetos con tumores obstruyendo las vías aéreas.

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O diabetes mellitus gestacional (DMG) está associado a um risco aumentado de complicações fetais, neonatais e no desenvolvimento a longo prazo. As taxas de aborto espontâneo, natimorto, mal formações congênitas e morbidade e mortalidade perinatal são maiores em filhos de mães diabéticas. As principais complicações neonatais são: macrossomia, hipoglicemia neonatal, deficiência de ferro, alterações da função cardiorrespiratória, hiperbilirrubinemia, anormalidades neurológicas, hipocalcemia, hipomagnesemia e policitemia. A macrossomia predispõe a lesões do parto, especialmente distócia de ombro, maior risco de lesão do plexo braquial, fraturas de clavícula ou do úmero, asfixia perinatal, e, menos frequentemente, hemorragia subdural e paralisia facial. O controle glicêmico rigoroso pré-concepção e durante a gestação associa-se com menor morbimortalidade perinatal. Assim, o controle do DMG representa tarefa de fundamental importância para impedir sequelas em neonatais. (AU)

The gestational diabetes mellitus (GDM) is associated with an increased risk of fetal, neonatal, and possibly long-term complications. The rates of spontaneous abortion, stillbirth, congenital malformations, and perinatal morbidity and mortality are higher in infants of a diabetic mother than in pregnancies with normal glycemic control. The main neonatal complications are: macrosomia, neonatal hypoglycemia, iron deficiency, changes in cardiac and respiratory function, hyperbilirubinemia, neurological abnormalities, hypocalcemia, hypomagnesemia and polycythemia. Macrosomia predisposes to birth injury, especially shoulder dystocia, increased risk of brachial plexus injury, clavicular or humeral fractures, perinatal asphyxia, and, less often, subdural hemorrhage and facial palsy. Strict glycemic control preconception and during pregnancy is associated with lower perinatal morbidity and mortality. Thus, GDM control is of paramount importance to prevent neonatal harm. (AU)

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A doença de Graves neonatal é observada em baixa porcentagem de crianças nascidas de mães portadoras dessa doença. Pode ser grave, com risco de morte e com efeitos deletérios sobre o desenvolvimento neural, embora seja geralmente autolimitada. A maioria dos recém-nascidos com hipertireoidismo pode melhorar rapidamente, desde que a terapia adequada seja logo iniciada, o que evita lesões sobre o sistema nervoso. (AU)

The neonatal Graves 'disease refers to hyperthyroidism, which is observed in a small percentage of children born to mothers with this disease. Although neonatal Graves' disease is usually self-limited, can be severe, life-threatening, and harmful effects on neural development. With appropriate therapy, started immediately, most newborns with hyperthyroidism may have improved rapidly, avoiding the negative consequences of hyperthyroidism in the developing nervous system. (AU)

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Objective: To analyze the tissue repair behavior after corrective surgical incision in neonates submitted to low-level laser therapy, in an attempt to diminish the incidence of postoperative dehiscence following the surgery for myelomeningocele performed immediately after birth. Methods: It is a prospective pilot study with 13 myelomeningocele patients submitted to surgery at birth who received adjuvant treatment with low-level laser therapy (Group A). Diode laser C.W., lambda = 685t nm, p = 21 mW, E = 0.19 J was punctually applied along the surgical incision, summing up 4 to 10 J energy delivered per patient, according to the surgical wound area and, then, compared with the previous results, which were obtained from 23 patients undergoing surgery without laser therapy (Group B). Results: This pilot study showed a significant decline in dehiscence of surgical wounds in neonates submitted to low-level laser therapy as compared to controls (7.69 versus 17.39%, respectively), demonstrating this is an effective, safe and noninvasive treatment method. Conclusion: This new adjuvant therapeutic proposal with low-level laser therapy aided healing of surgical wounds, preventing morbidities, as well as decreasing hospital stay, which implies cost of reduction for patients and for the institution.

Objetivo: Analisar o comportamento da reparação tecidual de incisão cirúrgica corretiva em neonatos submetidos ao laser de baixa intensidade, auxiliando a redução de incidência de deiscência pós-operatória de correção cirúrgica de mielomeningocele realizada imediatamente após o nascimento. Métodos: Estudo piloto, prospectivo, com 13 pacientes operados ao nascimento de mielomeningocele e submetidos ao laser de baixa intensidade como adjuvante. Foi aplicado, ao longo da incisão cirúrgica, o laser de diodo C.W., lambda = 685 nm, p = 21 mW, com E = 0,19 J por ponto, totalizando valores de energia entregue por paciente entre 4 e 10 J, de acordo com a área da cicatriz cirúrgica, e comparando com os resultados obtidos previamente de 23 pacientes operados sem a terapia com o laser (Grupo B). Resultados: Este estudo revelou significativa redução de deiscências no pós-operatório de neonatos, quando submetidos ao laser de baixa intensidade comparados ao controle (7,69 versus 17,39%, respectivamente), evidenciando ser um método de tratamento eficaz, seguro e não-invasivo. Conclusão: Esta nova proposta terapêutica adjuvante com o laser de baixa intensidade auxiliou na reparação tecidual da ferida operatória, evitando morbidades, além de diminuir o tempo de internação, sinalizando possível redução de custos tanto para os pacientes quanto para a instituição.

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OBJETIVO: avaliar a importância da concentração plasmática materna de frutosamina como indicador de cardiopatias congênitas fetais, em gestações complicadas pelo diabetes mellitus. MÉTODOS: o estudo retrospectivo incluiu 91 gestantes portadoras de diabetes mellitus, as quais foram submetidas à ecocardiografia fetal de rotina em centro universitário de referência em Medicina Fetal. Foram selecionadas 65 pacientes que apresentavam diabete pré-gestacional e registro em prontuário médico de frutosamina plasmática anterior ao exame ultrassonográfico. A primeira dosagem registrada foi confrontada com o resultado da ecocardiografia fetal de rotina, realizada por médico especialista do serviço. A presença ou ausência de achados ecográficos de cardiopatia congênita (AECC) foi relacionada aos níveis plasmáticos de frutosamina, por meio de teste de médias, e sua acuidade para AECC verificada por curva ROC. Foram discutidos como pontos de corte os valores da concentração plasmática materna de frutosamina de 2,68, 2,9 e 2,23 mmol/L, que são, respectivamente, o valor de referência local do laboratório, o do kit de dosagem empregado e o de maior acurácia global. RESULTADOS: o AECC foi encontrado em 52,3 por cento dos fetos. A primeira dosagem de frutosamina durante o pré-natal aconteceu em média com 20,4±8,0 semanas de gestação. A capacidade da concentração materna de frutosamina em identificar fetos com AECC foi significante (p<0,0001) e apresentou área sob a curva ROC de 0,78 (IC95 por cento=0,66-0,89). A concentração plasmática de frutosamina de 2,9 mmol/L apontou AECC com maior especificidade e, porém, com maior porcentual de falso-negativo (96,8 e 55,9 por cento). Valores acima de 2,68 mmol/L associam-se à probabilidade de 4,6 em identificar fetos com AECC em relação a valores inferiores, com sensibilidade de 58,8 por cento e especificidade de 87,1 por cento. O valor de 2,23 mmol/L mostrou-se de maior acurácia global entre os três pontos sugeridos, ...

PURPOSE: to evaluate the importance of maternal plasma concentration of fructosamine as an indicator of fetal congenital cardiopathies in pregnancies complicated by diabetes mellitus. METHODS: this was a retrospective study conducted on 91 pregnant women with diabetes mellitus who underwent routine fetal echocardiography at a university reference center in fetal medicine. Sixty-five patientes who presented pre-gestational diabetes mellitus and plasma fructosamine level were registered in the medical records prior to the ultrasound exam. The first measurement recorded was compared with the result of routine fetal echocardiography, carried out by a specialist physician of the service. The presence or absence of echocardiographic findings of congenital cardiopathies (EFCC) was related to plasma levels of fructosamine by the mean t-test and its accuracy for EFCC was verified by the ROC curve. Plsama fructosamine concentrations of 2.68, 2.9 and 2.23 mmol/L, which are, respectively, the local reference laboratory values, the value of the kit employed for measurement and the one of highest overall accuracy, were discussed as the cut-off values. RESULTS: EFCC was found in 52.3 percent of the fetuses. The first measurement of fructosamine, during the prenatal care period, was performed, on average, at 20.4±8.0 weeks of pregnancy. The maternal concentration ability of the fructosamine to identify fetuses with EFCC was significant (p<0.0001) and had an area under the ROC curve of 0.78 (95 percentCI=0.66-0.89). The 2.9 mmol/L plasma concentration of fructosamine revealed EFCC with better specificity, but with a higher percentage of false-negative results (96.8 and 55.9 percent). Values above 2.68 mmol/L were associated with a probability of 4.6 to identify fetuses with EFCC compared with lower values, with 58.8 percent of sensitivity and 87.1 percent, specificity. The value of 2.23 mmol/L proved to be the most overall accurate of the three values ...

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Antecedentes. En la génesis de la ausencia parcial o total del pulgar se encuentran factores genéticos, ambientales o una combinación de ambos. Puede hacer parte de un síndrome o encontrarse aisladamente y frecuentemente asociada con problemas de deficiencia longitudinal radial del antebrazo. Objetivo. El propósito de este estudio es mostar la experiencia, el enfoque del tratamiento y los resultados obtenidos desde el punto vista funcional y estético. Material y métodos. Es un trabajo observacional descriptivo tipo serie de casos en 22 niños operados con hipoplasia del pulgar y con un seguimiento mínimo de 12 meses (promedio 28 meses). En 15 casos había asociación de displasia radial u otra anomalía entre ellos cuatro pacientes con VATER, y los siete restantes correspondían a hipoplasia del pulgar como única entidad. Se realizó transferencia tendinosa, con apertura de la primera comisura en dos pacientes con hipoplasia tipo II. En tres pacientes, con hipoplasia tipo III A, se realizó apertura de comisura, transferencia del flexor superficial del cuarto dedo para corregir inestabilidad de la articulación MF y oposición del pulgar, y transferencia para extensión del pulgar. En 17 casos se realizó pulgarización del índice. Resultados. Se evaluó la pinza en: no pinzamiento, pinzamiento lateral y pinzamiento de pulpejos; el grado de oposición como buena, leve y no oposición, y el resultado estético según la satisfacción de los padres en malo, regular y bueno. Los cinco niños reconstruidos con transferencias de tendones y apertura de comisura tuvieron buen resultado. En 17 niños con pulgarización tuvimos una necrosis, de los 16 restantes se obtuvo un buen o aceptable resultado. Discusión. No es fácil seguir un buen sistema de medición de los resultados funcionales. Se encontró que una manera práctica de evaluar fueron la pinza, oposición y estética. Previo a las cirugías se requiere descartar alteraciones hematológicas o renales...

Background. in the genesis of the partial or total absence of the thumb they are genetic, environmental factors or acombination of both. It is take part of a syndrome or to be isolated and frequently associated with problems ofradial longitudinal deficiency of the forearm. Objective. The purpose of this study is mostar the experience, the focus of the processing and the resultsobtained since the point esthetic and functional view. The most it accepted classification is the proposal by Blauththat helps to determine the forecast and the processing. Materials and methods. it is a work type series of cases in 22 children with hipoplasia of the thumb, with a minimum of 12 months, (average 28 months). In 15 cases there were association of radial dysplasia or another anomaly among them 4 patients with VATER, and the 7 remaining theycorresponded to hipoplasia of the thumb as only entity. We carried out tendon transfer, with opening of the firstcomisure in 2 patients with hipoplasia type II. In 3 patients, with hipoplasia type III A, one carries out corner opening, transfer of the superficial flexor of the 4 finger to correctinstability of the articulation MF and opposition of the thumb, and transfer for extension of the thumb. In 17 casesone carries out pollicization of the index.Results. The outcome was evaluated in: non pinch, lateral pinch and fingertip pinch; the grade of opposition likegood, minimal and non opposition, and the aesthetic result according to the satisfaction of the parents in bad, regular and good. The five children reconstructed with transfers of tendons and comisure opening had good result. In 17 children with pollicization one patient had a necrosis, of the 16 remaining a good or acceptable result was obtained. Discussion. It is not easy to follow a good system of measure of the functional results. We find that a practical way to evaluate was the clip, opposition and aesthetics. Previous to the surgeries it is required...

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