Manejo quirúrgico de prolapso uretral en pediatría: Reporte de caso / Surgical management of urethral prolapse in pediatrics: A case report

Introducción. El prolapso uretral es una entidad poco común, con una incidencia estimada de 1 en 3000 mujeres. Se presenta cuando la mucosa uretral sobresale espontáneamente más allá del meato uretral. Es una patología poco diagnosticada dada su baja frecuencia y de allí la importancia de conocer sobre su presentación, diagnóstico y tratamiento. El objetivo de este artículo fue presentar el caso de una paciente de 10 años con diagnóstico de prolapso uretral y su manejo quirúrgico. Caso clínico. Paciente femenina de 10 años, que consultó por cuadro clínico de 1 año de evolución consistente en dolor en región urogenital, que se irradiaba a hipogastrio, asociado a pujo y disuria, a quien se le diagnosticó prolapso uretral y se realizó corrección quirúrgica de mucosa uretral prolapsada mediante técnica de Kelly-Burnham modificada. Conclusión. El prolapso uretral es una entidad que con frecuencia es diagnosticada erróneamente pues su diagnóstico es eminentemente clínico. Si bien se ha descrito el tratamiento médico en primera instancia, éste tiene una alta tasa de recurrencia, por lo que en estos casos se prefiere la resección quirúrgica del tejido prolapsado.

Introduction. Urethral prolapse is a rare entity, with an estimated incidence of 1 in 3,000 women. It occurs when the urethral mucosa spontaneously protrudes beyond the urethral meatus. It is a poorly diagnosed pathology given its low frequency and hence the importance of knowing about its presentation, diagnosis and treatment. The objective of this article was to present the case of a 10-year-old patient with a diagnosis of urethral prolapse and its surgical management. Clinical case. A 10-year-old female patient, who consulted for a 1-year clinical picture consisting of pain in the urogenital region, radiating to the hypogastrium, associated with pushing and dysuria, who was diagnosed with urethral prolapse and a surgical correction of the urethral mucosa was performed prolapsed by modified Kelly-Burnham technique. Conclusion. Urethral prolapse is an entity that is frequently misdiagnosed because its diagnosis is eminently clinical. Although medical treatment has been described in the first instance, it has a high recurrence rate, so surgical resection of the prolapsed tissue is preferred in these cases.

[Stent ductal implant by axillary via in a newborn with ductal dependent pulmonary blood flow]. / Implante de stent ductal por vía axilar en neonato con cardiopatía congénita con flujo pulmonar dependiente del conducto arterioso.

INTRODUCTION: Ductus arteriosus stenting is a palliative alternative for neonates with ductal-dependent pulmonary flow. OBJECTIVE: To present an alternative of arterial access for percutaneous coronary intervention in neonates. CLINICAL CASE: A term neonate with low weight diagnosed with pulmonary atresia with intact ventricular septum and severe hypoplasia of the tricuspid valve with dependent coronary circu lation. Due to the surgical risk and femoral artery damage and the anatomy of the ductus arteriosus, a left axillary arterial puncture was decided where a 3.5-millimeter coronary stent was successfully placed. The patient developed an axillary spasm that resolved spontaneously. CONCLUSION: Alternati ve arterial access other than the femoral artery route is an option for neonates with high surgical risk and low birth weight.

Bioinformatic analysis of genotype by sequencing (GBS) data with NGSEP.

BACKGROUND: Therecent development and availability of different genotype by sequencing (GBS) protocols provided a cost-effective approach to perform high-resolution genomic analysis of entire populations in different species. The central component of all these protocols is the digestion of the initial DNA with known restriction enzymes, to generate sequencing fragments at predictable and reproducible sites. This allows to genotype thousands of genetic markers on populations with hundreds of individuals. Because GBS protocols achieve parallel genotyping through high throughput sequencing (HTS), every GBS protocol must include a bioinformatics pipeline for analysis of HTS data. Our bioinformatics group recently developed the Next Generation Sequencing Eclipse Plugin (NGSEP) for accurate, efficient, and user-friendly analysis of HTS data. RESULTS: Here we present the latest functionalities implemented in NGSEP in the context of the analysis of GBS data. We implemented a one step wizard to perform parallel read alignment, variants identification and genotyping from HTS reads sequenced from entire populations. We added different filters for variants, samples and genotype calls as well as calculation of summary statistics overall and per sample, and diversity statistics per site. NGSEP includes a module to translate genotype calls to some of the most widely used input formats for integration with several tools to perform downstream analyses such as population structure analysis, construction of genetic maps, genetic mapping of complex traits and phenotype prediction for genomic selection. We assessed the accuracy of NGSEP on two highly heterozygous F1 cassava populations and on an inbred common bean population, and we showed that NGSEP provides similar or better accuracy compared to other widely used software packages for variants detection such as GATK, Samtools and Tassel. CONCLUSIONS: NGSEP is a powerful, accurate and efficient bioinformatics software tool for analysis of HTS data, and also one of the best bioinformatic packages to facilitate the analysis and to maximize the genomic variability information that can be obtained from GBS experiments for population genomics.

An integrated framework for discovery and genotyping of genomic variants from high-throughput sequencing experiments.

Recent advances in high-throughput sequencing (HTS) technologies and computing capacity have produced unprecedented amounts of genomic data that have unraveled the genetics of phenotypic variability in several species. However, operating and integrating current software tools for data analysis still require important investments in highly skilled personnel. Developing accurate, efficient and user-friendly software packages for HTS data analysis will lead to a more rapid discovery of genomic elements relevant to medical, agricultural and industrial applications. We therefore developed Next-Generation Sequencing Eclipse Plug-in (NGSEP), a new software tool for integrated, efficient and user-friendly detection of single nucleotide variants (SNVs), indels and copy number variants (CNVs). NGSEP includes modules for read alignment, sorting, merging, functional annotation of variants, filtering and quality statistics. Analysis of sequencing experiments in yeast, rice and human samples shows that NGSEP has superior accuracy and efficiency, compared with currently available packages for variants detection. We also show that only a comprehensive and accurate identification of repeat regions and CNVs allows researchers to properly separate SNVs from differences between copies of repeat elements. We expect that NGSEP will become a strong support tool to empower the analysis of sequencing data in a wide range of research projects on different species.

Exploración del efecto de altas diluciones sucusionadas (medicamento homeopático) de phytolacca americana sobre linfocitos humanos. Fase III / Exploration of the effect of high dilutions succussed (homeopathic medicine) of phytolacca americana on human lymphocytes. Phase III

Phytolacca americana es una planta que preparada bajo el método homeopático se ha usado para el manejo de enfermedades que cursan con adenopatías, sabemos que in Vitro exhibe un efecto sobre la proliferación de células mononucleares de sangre periférica, principalmente linfocitos y sobre la producción de diversas citoquinas. El objetivo de este trabajo fue la exploración del efecto de Phytolacca americana sobre la proliferación de células mononucleares de sangre periférica y sobre la producción de TNFα, en diluciones consecutivas entre la 12 CH y la 18 CH. Para la evaluación de la viabilidad celular se usó el método MTT (Bromuro de 3(4,5 dimetil-2-tiazoil)-2,5- difeniltetrazólico) y para la cuantificación de la producción de TNFα el método ELISA, se analizaron muestras de sangre periférica de 10 individuos sanos. Se encontró de manera general aumento máximo de la proliferación celular 48 horas posterior a la exposición a Phytolacca, y un aumento en la producción de TNF α para la dilución 14 CH. Concluimos que Phytolacca americana produce un aumento de la proliferación de células mononucleares de sangre periférica y que en las diluciones 13, 14 y 18 CH se estimula la producción de TNFα, sin embargo, para el resto de diluciones, el efecto varía de manera individual.