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Objetivo: Determinar las características radiológicas del colostograma distal asociada a malformación ano rectal en pacientes atendidos el en Hospital Edgardo Rebagliati Martins – EsSalud durante 2014 al 2015. Metodología: EL diseño fue descriptivo, según el tiempo de ocurrencia fue retrospectivo, según el periodo y secuencia de la investigación fue trasversal y según el análisis que se realiza fue analítico. Resultados: El 54,05% de los pacientes presentaron fondo de saco ciego rectal; el tipo de fistula más frecuente fue la de tipo rectouretral 41,18%. Al momento de la realización de la radiografía contrastada la edad más frecuente fue comprendida entre los 06 meses de vida hasta los 12 meses así mismo prevaleció el sexo masculino con 59,46% sobre el sexo femenino. Conclusiones: Colostograma distal a presión es una prueba diagnóstica sencilla y precisa, con mínimos riesgos, para definir la anatomía alterada de este complejo malformativo y conocer el tipo de las fistulas asociadas entre el fondo de saco rectal y aparato genitourinario.

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Mémoire numérisé par la Direction des bibliothèques de l'Université de Montréal.

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Cellular development and function necessitate precise patterns of gene expression. Control of gene expression is in part orchestrated by a class of remote regulatory elements, termed enhancers, which are brought into contact with promoters via DNA looping. Enhancers typically contain clusters of transcription factor binding sites, and TF recruitment to them is thought to play a key role in transcriptional control. In this thesis I have addressed two issues regarding gene regulation by enhancers. First, with recent genome-wide enhancer mapping, it is becoming increasingly apparent that genes are commonly regulated by multiple enhancers in the same cell type. How a gene’s regulatory information is encoded across multiple enhancers, however, is still not fully understood. Second, numerous recent studies have found that enhancers are enriched for expression-modulating and disease-associated genetic variants. However, understanding and predicting the effects of enhancer variants remains a major challenge. I focussed on a human lymphoblastoid cell line (LCL), GM12878, for which ChIP-Seq data are available for 52 different TFs from the ENCODE project. Significantly, Promoter Capture Hi-C data for the same LCL are available, making it possible to link enhancers to target genes globally. In the first part of the thesis, I investigated how gene regulatory information is encoded across enhancers. Specifically, I asked whether a gene tends to use multiple enhancers to bring the same or distinct regulatory information. I found that there was a general trend towards a “shadow” enhancer architecture, whereby similar combinations of TFs were recruited to multiple enhancers. However, numerous examples of “integrating” enhancers were observed, where the same gene showed large variation in TF binding across enhancers. Distinct groups of TFs were associated with these contrasting models of TF enhancer binding. To investigate the functional effects of variation at enhancers, I additionally took advantage of a panel of LCLs derived from 359 individuals, which have been genotyped by the 1000 Genomes Project, and for which RNA-Seq data are publically available. I used TF binding models to computationally predict variants impacting TF binding, and tested the association of these variants with the expression of the target genes they contact based on Promoter Capture Hi-C. Compared to the standard eQTL calling approach, this offers increased sensitivity as only variants physically contacting the promoter and predicted to impact TF binding are tested. Using this approach, I discovered a set of predicted TF-binding affinity variants at distal regions that associate with gene expression. Interestingly, a large proportion of these binding variants fall at the promoters of other genes. This finding suggests that some promoters may be able to act in an enhancer-like manner via long-range interactions, consistent with very recent findings from alternative approaches.

Die vorliegende Arbeit befasst sich mit therapierelevanten Faktoren bei distalen Radiusfrakturen. Auf der Grundlage der nach AO klassifizierten, distalen Radiusfrakturen werden sowohl verletzungsbedingte, als auch therapiebedingte Einflußfaktoren hinsichtlich des klinisch-radiologischen Ergebnisses untersucht. Es erfolgt die Darstellung der Komplikationshäufigkeit bei operativ und konservativ versorgten distalen Radiusfrakturen. Diese wird in Zusammenhang mit unfall-und patientenbezogenen Faktoren, Begleitverletzungen und therapiebezogenen Einflußfaktoren untersucht und am klinisch-radiologischen Ergebnis gemessen. Zur Objektivierung der klinisch-radiologischen Nachuntersuchung dienen der DASH-Score, der Gartland und Werley-Score (modifiziert nach Sarmiento) und der Stewart Score.

Distal radius fractures are the single most common type of fracture suffered among the adult population. Presently, clinical decision making regarding optimal treatment is inconclusive. The goal of this thesis was to design, develop, and biomechanically test a novel implant for the stabilization of distal radius fractures. The novel implant is intended to provide a minimally invasive, low cost alternative to locked volar plates, while still permitting an earlier return to function. The implant consists of an angled bar with a sharp cutting edge and is inserted using a minimally invasive approach through the radial styloid. Surgical instrumentation was designed to facilitate the procedure in a controlled manner. To determine whether the implant would be capable of providing an early return to function, biomechanical tests were conducted both experimentally and numerically. Biomechanical testing showed that mechanical fixation with the novel implant does not support and early return to function.