Project description:Acquired benign tracheoesophageal fistula (TOF) is a rare medical condition that usually results from trauma, foreign bodies or granulomatous infections. This is an unusual presentation of a male patient with a history of laryngectomy who has had over a period of several years inappropriately and vigorously used valve cleaning brushes to clean tracheal secretions, which has led to the formation of a TOF. Due to the patient's obsessive habit, we could not manage him using conventional surgical methods. Instead, we opted for the placement of a salivary bypass tube, which yielded good results and recovery. To the best of our knowledge, no other case of similar aetiology has been published. We would like to highlight the importance of appropriate patient selection and education prior to performing a tracheoesophageal puncture to avoid developing life-threatening complications as demonstrated in our case report.
Project description:Esophageal atresia and tracheoesophageal fistula (EA/TEF) are relatively frequently occurring foregut malformations with a largely unknown etiology. EA/TEF is thought to have a strong genetic component and several genes have been proven to be involved in syndromic EA/TEF. However, it is not clear which biological processes or gene networks are disturbed. To gain more insight in the origin of the TEF, we aimed to examine and describe TEF composition using a combination of whole-genome transcription profiling and (immuno-) histochemical stainings. We hypothesized that such characterization of human TEFs provides insight in the molecular and mechanistic etiology of EA/TEF. Data analysis was carried out using BRB-array tools version 4.6.0 (October 2018) in combination with R version 3.5.1 (July 2018). For each probe set, the geometric mean of the hybridization intensities of all samples was calculated. The level of expression of each probe set was determined relative to this geometric mean and logarithmically transformed (on a base 2 scale) to ascribe equal weight to gene-expression levels with similar relative distances to the geometric mean.
Project description:Infective endocarditis is a severe but rarely diagnosed disease, characterized by the presence of bacterial infection at the level of the cardiac valves. Although the incidence of the disease is very low, the consequences are severe and the prognosis is very poor, outlining a high mortality rate among cases. The present report highlights the case of a 7-year-old dog presented with abrupt changes in the respiratory pattern, obtunded and in lateral recumbency. The physical examination of the patient revealed fever and a IV/VI systolic heart murmur, with the point of maximal intensity on the left hemithorax. Echocardiography identified hyperechoic and cavitary changes beneath the aortic valves and a retrograde turbulent jet originating in the left ventricle outflow tract communicating with the left atrium through a rupture in the aortomitral intervalvular wall. Because of very unstable hemodynamic changes, the dog suddenly died despite the initiation of intensive care supportive treatment, and the postmortem evaluation of the heart confirms the suspicion of infective aortic endocarditis with the development of a paravalvular abscess and an aorto-left atrial fistula.
Project description:Esophageal atresia and tracheoesophageal fistula (EA/TEF) are major congenital malformations affecting 1:3500 live births. Current research efforts are focused on understanding the etiology of these defects. We describe well-known animal models, human syndromes, and associations involving EA/TEF, indicating its etiologically heterogeneous nature. Recent advances in genotyping technology and in knowledge of human genetic variation will improve clinical counseling on etiologic factors. This review provides a clinical summary of environmental and genetic factors involved in EA/TEF.
Project description:Laparoscopic colon surgery is performed frequently in the clinical setting for a multitude of reasons including cancer, infection, and autoimmune disease. As a result, extensive research has been conducted in relation to clinical outcomes after surgery, but more recently, in relation to the impact of surgery and other patient factors on physiologic homeostasis including the host microbiome. Despite this, experimental surgical models for laparoscopic colon surgery are scarce in the literature with most studies utilizing rodents. While rodent studies provide valuable insights into basic mechanistic processes, the translation of novel therapeutic approaches to clinical practice often requires the use of large animal models. In exploring the intricate systems biology linking surgery and medicine, sophisticated models such as nonhuman primates (NHPs) play a pivotal role. By closely resembling human anatomical, physiological, and behavioral characteristics, NHPs facilitate the development and refinement of complex surgical techniques and peri-operative practices. Furthermore, they enable longitudinal studies that comprehensively assess both immediate and long-term outcomes. The availability and utilization of multiple robust models enhance the validity of surgical research, leading to more successful translation to human clinical practice. Here we describe our technique for performing a laparoscopic sigmoid colectomy with a primary anastomosis in an NHP. The entire procedure was well tolerated without significant ventilation or hemodynamic issue. To our knowledge, this represents the first laparoscopic sigmoid colectomy with primary anastomosis performed in an NHP. Furthermore, this demonstrates the feasibility of the technique and provides a relevant, preclinical model for the study of surgical colon disease. Although the surgical colectomy model in NHPs closely resembles the clinical scenario, it is crucial to recognize that a 'model' inherently comes with limitations. The intended use of any model should be carefully evaluated concerning the target patient population with the consideration of potential disparities in anatomy, physiology, environmental factors, and disease to properly interpret results. This model provides an opportunity to study mechanisms, from a systems biology perspective, underlying both innovative surgical treatments and their effects on diseases such as colon cancer, as well as benign conditions like inflammatory bowel disease, diverticulitis, and anastomotic leak, offering high predictive value.
Project description:A 55-year-old-man underwent laparoscopic sigmoidectomy for sigmoid colon cancer. Preoperative barium enema showed a slightly medial displacement of the descending colon, and the sigmoid colon was quite long. The operative findings showed that the descending colon was not fused with the retroperitoneum and shifted to the midline and the left colon adhered to the small mesentery and right pelvic wall. Thus, a diagnosis of persistent descending mesocolon (PDM) was made. The left colon, sigmoid colon, and superior rectal arteries often branch radially from the inferior mesenteric artery. The sigmoid mesentery shortens, and the inferior mesenteric vein is often close to the marginal vessels. By understanding the anatomical feature of PDM and devising surgical techniques, laparoscopic sigmoidectomy for sigmoid colon cancer with PDM could be performed without compromising its curative effect and safety.
Project description:PurposeThe NOG protein is a secretory antagonist of bone morphogenetic proteins (BMPs). Nog-/- mouse embryos demonstrate proximal esophageal atresia (EA) and distal tracheoesophageal fistula (TEF) compatible with the most common configuration of EA/TEF observed in humans. Four microdeletions that span the NOG locus at 17q22 have been described in human patients having EA/TEF. We investigated the incidence of point mutations in the coding region of the NOG gene in human EA/TEF.MethodsDNA was collected from 50 patients previously treated for EA/TEF. PCR was used to amplify the coding region of NOG. To detect single nucleotide polymorphisms (SNPs), amplicons were subjected to temperature gradient capillary electrophoresis (TGCE). Candidate SNPs were directly sequenced.ResultsTGCE analysis revealed a SNP in the coding region of NOG in 1 of 50 patients (2%). DNA sequencing revealed a synonymous SNP at position 468 (C-T) of the NOG coding region.ConclusionSNPs in the coding region of the NOG gene are identified infrequently in human cases of EA/TEF. Further investigation of SNPs in the promoter region of NOG is warranted, as is the effect of synonymous SNPs on NOG mRNA stability.