Developing and assessing a cadaveric training model for transanal total mesorectal excision: initial experience in the UK and USA.

AIM: Transanal total mesorectal excision (taTME) has become one of the most promising technical advancements in the surgical treatment of rectal cancer, with rising numbers of surgeons seeking training. We describe our experience with human cadaveric courses for taTME delivered in two countries. METHOD: Four fresh human cadaveric workshops conducted in Oxford, UK, in 2015 and two in Chicago, USA, in 2013-2014, trained a total of 52 surgeons. Parameters of operative performance for each delegate were recorded. Previous surgical experience and uptake of taTME in the surgeons' clinical setting were surveyed. RESULTS: Forty-seven taTME cases were performed on cadaveric models. Participating surgeons had previous experience in laparoscopic TME surgery and transanal approaches but limited taTME exposure. The purse-string remained occluded throughout in 93% of UK and 60% of US cases. Operative timings for key procedural steps were similar between the two countries with a mean time from start of circumferential dissection to peritoneal entry of 79.5 min (range 25-155). 96% of surgeons dissected transanally to a level S2 or above. The TME specimen quality was complete or near complete in 81%, with improvements noted between the first and second procedure performed. 81% of surgeons surveyed are currently performing taTME in their local hospitals. CONCLUSION: Fresh-frozen cadavers provide excellent teaching models for complex pelvic surgery. A structured training curriculum including reading material, dry-lab purse-string practice and postcourse mentorship will provide surgeons with a more complete training package and ongoing support, to ultimately ensure the safe introduction of taTME in the clinical setting.

Transanal total mesorectal excision: dissection tips using 'O's and 'triangles'.

PURPOSE: Transanal total mesorectal excision (taTME) requires specific technical expertise, as it is often difficult to ascertain the correct dissection plane. Consequently, one can easily enter an incorrect plane, potentially resulting in bleeding (sidewall or presacral vessels), autonomic nerve injury and urethral injury. We aim to demonstrate specific visual features, which may be encountered during surgery and can guide the surgeon to perform the dissection in the correct plane. METHOD: Specific features of dissection in the correct and incorrect planes are demonstrated in the accompanying video. RESULTS: The 'triangles' created using appropriate traction can aid in performing a precise dissection in the correct plane. Recognition of features described as 'O's can alert surgeons that they are entering a new fascial plane and can avoid incursion into an incorrect plane. CONCLUSION: Understanding and recognizing the described features which can be encountered in taTME surgery, a safe and accurate TME dissection can be facilitated.

Current status of trans-anal total mesorectal excision (TaTME) following the Second International Consensus Conference.

This article documents the consensus of an expert group of surgeons from the Second International Trans-anal Total Mesorectal Excision (TaTME) Conference held in Paris in July 2014. It outlines three facets of the TaTME procedure: (i) the technique and its indications, (ii) training and adoption, and (iii) data collection and the TaTME registry.

Transrectal natural orifice translumenal endoscopic surgery (NOTES) for colorectal resection.

Natural orifice translumenal endoscopic surgery (NOTES) is a new surgical paradigm involving performance of intra-abdominal surgery via a natural orifice and thereafter peritoneal access through an intentionally created hole in a hollow viscus. The vast majority of research in this rapidly evolving field had involved access via an oral or vaginal route. Access via a transanal route, other than the obvious concern over contamination, has many appealing attributes. In addition, transanal surgery has long been a common procedure lending a valuable clinical experience to the foundation of this field of research. Examples of preclinical and clinical research on transanal NOTES colorectal resections are here presented and discussed.

Early multi-institution experience with single-incision laparoscopic colectomy.

PURPOSE: Single-incision laparoscopic colectomy represents a potential advance in minimally invasive surgical approaches to colorectal disease. Although widely promoted, outcome data are virtually absent. A group of highly experienced laparoscopic attending colorectal surgeons convened to standardize technique and prospectively record operative details and outcomes. METHODS: Single-incision laparoscopic colectomy was performed by 10 experienced attending colorectal surgeons with minimal or no prior single-incision laparoscopic colectomy experience. Surgeon rating of ergonomics and 15 components of operation conduct was compared with conventional multiple-port laparoscopic colectomy. Patient demographics, operative details, and outcome data were prospectively collected. RESULTS: Thirty-nine single-incision laparoscopic colectomies were performed (25 right colectomies, 5 ileocolic resections, 8 sigmoidectomies, and 1 low anterior resection). Underlying pathology included polyps (12), cancer (15), Crohn's disease (5), and diverticulitis (7). Patients were highly selected with a mean body mass index of 25.6 (range, 16-40). Two conversions to open resection occurred, 1 because of fistula and 1 because of adhesions, in patients with a mean body mass index of 34. An additional port was required in 3 patients. Mean incision length was 4.2 cm (range, 2.5-8) and operative time was 120 minutes (range, 68-210). Complications included 1 wound infection and 2 anastomotic bleeds requiring transfusion. Average length of stay was 4.4 days (range, 2-8). Mean lymph node harvest was 19 (range, 12-39). Exposure, instrument conflict, ergonomics, ease of instrumentation, and camera operation were rated significantly more difficult with single-incision laparoscopic colectomy than with multiple-port laparoscopic colectomy. CONCLUSIONS: Preliminary data demonstrate that single-incision laparoscopic colectomy can be performed safely in selected patients by experienced surgeons. The benefits of single-incision compared with multiple-port laparoscopic colectomy are not immediately evident. Despite the advanced skills of the faculty, a learning curve of undetermined length still exists in which specific components of single-incision laparoscopic colectomy are more difficult than multiple-port laparoscopic colectomy, and areas of focus remain that require advances to make single-incision laparoscopic colectomy equivalent to multiple-port laparoscopic colectomy. The multi-institutional registry will enable further analysis of single-incision laparoscopic colectomy.

A colorectal surgeons viewpoint on natural orifice translumenal endoscopic surgery.

Natural orifice translumenal endoscopic surgery (NOTES) represents a burgeoning but still largely experimental field. Most NOTES researchers have favored transgastric and transvaginal approaches to abdominal access. For surgeries involving the upper abdominal organs, transvaginal and transanal approach promise to provide a more direct route in contrast to the often cumbersome retroflexion typically required with the transgastric approach. The potential disadvantages of the transanal route are also significant and include issues of sterility, the risk of inadvertent trauma to adjacent organs during transmural puncture, and the risk of colonic wall shearing. This article reviews early development of NOTES, the evolution of transanal access to the peritoneal cavity, highlights the various techniques that have been used for transanal access, and discusses the relative advantages and disadvantages of this approach.

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

We report fluorescence in situ hybridization (FISH) mapping of 152, mostly de novo, apparently balanced chromosomal rearrangement (ABCR) breakpoints in 76 individuals, 30 of whom had no obvious phenotypic abnormality (control group) and 46 of whom had an associated disease (case group). The aim of this study was to identify breakpoint characteristics that could discriminate between these groups and which might be of predictive value in de novo ABCR (DN-ABCR) cases detected antenatally. We found no difference in the proportion of breakpoints that interrupted a gene, although in three cases, direct interruption or deletion of known autosomal-dominant or X-linked recessive Mendelian disease genes was diagnostic. The only significant predictor of phenotypic abnormality in the group as a whole was the localization of one or both breakpoints to an R-positive (G-negative) band with estimated predictive values of 0.69 (95% CL 0.54-0.81) and 0.90 (95% CL 0.60-0.98), respectively. R-positive bands are known to contain more genes and have a higher guanine-cytosine (GC) content than do G-positive (R-negative) bands; however, whether a gene was interrupted by the breakpoint or the GC content in the 200 kB around the breakpoint had no discriminant ability. Our results suggest that the large-scale genomic context of the breakpoint has prognostic utility and that the pathological mechanism of mapping to an R-band cannot be accounted for by direct gene inactivation.

Developing essential tools to enable transgastric surgery.

Natural orifice transluminal endoscopic surgery (NOTES) is a largely theoretical but potentially exciting evolution of minimally invasive surgical care. Using technology borrowed from current diagnostic and therapeutic flexible endoscopy, the idea is to replicate current laparoscopic procedures in an "incisionless" manner. It is widely recognized that for NOTES to become a practical reality, many issues need to be resolved, both methodologic and political. One critical element of development will be the design of appropriate instrumentation for NOTES. This is currently happening and involves a complex collaboration between industry and clinicians both to adapt current equipment and to design and create new tools to enable the performance of transluminal procedures. This article describes the current process of such technology development as well as the resulting instrumentation that enables the performance of NOTES. The issues of access and platform stability, laparoscopic-like instruments, and secure tissue approximation are described, and the devices to solve these issues are detailed.

Building an efficient surgical team using a bench model simulation: construct validity of the Legacy Inanimate System for Endoscopic Team Training (LISETT).

BACKGROUND: Complex laparoscopic tasks require collaboration of surgeons as a surgical team. Conventionally, surgical teams are formed shortly before the start of the surgery, and team skills are built during the surgery. There is a need to establish a training simulation to improve surgical team skills without jeopardizing the safety of surgery. The Legacy Inanimate System for Laparoscopic Team Training (LISETT) is a bench simulation designed to enhance surgical team skills. The reported project tested the construct validity of LISETT. The research question was whether the LISETT scores show progressive improvement correlating with the level of surgical training and laparoscopic team experience or not. METHODS: With LISETT, two surgeons are required to work closely to perform two laparoscopic tasks: peg transportation and suturing. A total of 44 surgical dyad teams were recruited, composed of medical students, residents, laparoscopic fellows, and experienced surgeons. The LISETT scores were calculated according to the speed and accuracy of the movements. RESULTS: The LISETT scores were positively correlated with surgical experience, and the results can be generalized confidently to surgical teams (Pearson's coefficient, 0.73; p = 0.001). To analyze the influences of individual skill and team dynamics on LISETT performance, team quality was rated by team members using communication and cooperation characters after each practice. The LISETT scores are positively correlated with self-rated team quality scores (Pearson's coefficient, 0.39; p = 0.008). CONCLUSIONS: The findings proved LISETT to be a valid system for assessing cooperative skills of a surgical team. By increasing practice time, LISETT provides an opportunity to build surgical team skills, which include effective communication and cooperation.

Feasibility of radical sigmoid colectomy performed as natural orifice translumenal endoscopic surgery (NOTES) using transanal endoscopic microsurgery.

BACKGROUND: Natural orifice translumenal endoscopic surgery (NOTES), a recent development in the field of minimally invasive surgery, may offer advantages over open and laparoscopic surgery. Most investigations to date have focused on small end-organ resections, and none have described en bloc regional lymphadenectomy. This study aimed to describe a method of anal transcolonic sigmoid colon resection. METHODS: A fresh frozen then thawed cadaver model was used. Three male human cadavers were subjected to transanal sigmoid colon mobilization, high vascular ligation, en bloc lymphadenectomy, and stapled end-to-end anastomosis performed by a single operator using transanal endoscopic microsurgery instrumentation. RESULTS: The findings showed that NOTES sigmoid colon resection with en bloc lymphadenectomy and primary anastomosis can be performed successfully. The critical steps of the procedure were (1) luminal suture occlusion of the sigmoid colon, (2) transrectal bowel division, (3) entry through the mesorectum into the presacral space, (4) en bloc mobilization of the sigmoid colon mesentery off of the retroperitoneum, (5) high ligation of the superior hemorrhoidal artery, (6) transanal delivery of the intact sigmoid colon specimen, (7) extracorporeal division of the colon, and (8) creation of a stapled end-to-end colorectal anastomosis. Postprocedure laparotomy confirmed adequate lymphadenectomy and anastomosis with no untoward events. CONCLUSIONS: It is possible to complete the critical steps of a NOTES sigmoid resection, en bloc lymphadenectomy, primary anastomosis, and retrieval of an intact specimen without any incisions using transanal endoscopic microsurgery instrumentation.

Breast cancer in two sisters with Friedreich's ataxia.

Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder causing progressive ataxia and dysarthria. We report two sisters who had breast cancer aged 39 years and 42 years and who both developed a late onset form of FRDA with onset of neurological symptoms in their thirties. We discuss whether there may be an association between the late onset form of FRDA and malignancy.

The evolving treatment of anal cancer: How are we doing?

HYPOTHESIS: The adaptation of new techniques in treatment of epidermoid carcinoma of the anal canal during the past 3 decades has improved clinical outcomes. DESIGN: Retrospective consecutive case review. SETTING: A university hospital and Veterans Affairs medical center. PATIENTS: Medical records of 76 consecutive patients treated for invasive epidermoid cancer of the anal canal between 1970 and 1999 were reviewed. Twenty-one patients were excluded because of inadequate staging information and/or follow-up of less than 12 months. MAIN OUTCOME MEASURES: Locoregional recurrence, survival, colostomy-free survival, and morbidity. RESULTS: Fifty-five patients composed the study population. Ten were treated during decade 1 (1970-1979), 16 in decade 2 (1980-1989), and 29 in decade 3 (1990-1999). Mean age and sex distributions were similar. The prevailing primary treatment modality changed during the course of the study from sequential treatment (chemotherapy then radiation therapy then radical surgery) to concurrent chemoradiation (70% and 0% of cases, respectively, in decade 1 to 7% and 76% of cases, respectively, in decade 3). Locoregional control (50%, 81%, and 93%; P =.01), crude survival (median, 28, 30, and 76 months), and colostomy-free survival (mean, 13, 90, and 80 months) improved during the 3 decades. There were no differences in major complications during the 3 decades (40%, 56%, and 41%). CONCLUSION: Primary treatment with concurrent chemoradiation has improved the local recurrence, survival, and colostomy-free survival rates in patients with invasive epidermoid carcinoma of the anal canal without increasing major morbidity.

A new case of Myhre syndrome.

Myhre Syndrome is a rare condition associated with mental retardation, short stature, generalized muscle hypertrophy, cardiac defects and a distinct facial appearance. There have only been five reported cases and we now present a sixth, together with a review of the clinical features of this syndrome.

A case of Acro-renal-mandibular syndrome in an 18 week male fetus.

An 18 week male fetus is described with Acro-renal-mandibular syndrome. This third reported case of the syndrome is the first known male case and extends the phenotypic spectrum that characterizes the condition.

Usefulness of FDG-PET scan in the assessment of suspected metastatic or recurrent adenocarcinoma of the colon and rectum.

PURPOSE: The purpose of this study was to evaluate the clinical efficacy of positron emission tomography with 2-[18F] fluoro-2-deoxy-D-glucose compared with computed tomography plus other conventional diagnostic studies in patients suspected of having metastatic or recurrent colorectal adenocarcinoma. METHODS: The records of 105 patients who underwent 101 computed tomography and 109 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography scans for suspected metastatic or recurrent colorectal adenocarcinoma were reviewed. Clinical correlation was confirmed at time of operation, histopathologically, or by clinical course. RESULTS: The overall sensitivity and specificity of 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography in detection of clinically relevant tumor were higher (87 and 68 percent) than for computed tomography plus other conventional diagnostic studies (66 and 59 percent). The sensitivity of 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography in detecting mucinous cancer was lower (58 percent; n = 16) than for nonmucinous cancer (92 percent; n = 93). The sensitivity of 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography in detecting locoregional recurrence (n = 70) was higher than for computed tomography plus colonoscopy (90 vs. 71 percent, respectively). The sensitivity of 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography in detecting hepatic metastasis (n = 101) was higher than for computed tomography (89 vs. 71 percent). The sensitivity of 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography in detecting extrahepatic metastases exclusive of locoregional recurrence (n = 101) was higher than for computed tomography plus other conventional diagnostic studies (94 vs. 67 percent). 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography altered clinical management in a beneficial manner in 26 percent of cases (26/101) when compared with evaluation by computed tomography plus other conventional diagnostic studies. CONCLUSION: 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography is more sensitive than computed tomography for the detection of metastatic or recurrent colorectal cancer and may improve clinical management in one-quarter of cases. However, 2-[18F] fluoro-2-deoxy-D-glucose positron emission tomography is not as sensitive in detecting mucinous adenocarcinoma, possibly because of the relative hypocellularity of these tumors.

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive syndrome characterised by profound congenital sensorineural deafness and prolongation of the QT interval on the electrocardiogram, representing abnormal ventricular repolarisation. In a study of ten British and Norwegian families with JLNS, we have identified all of the mutations in the KCNQ1 gene, including two that are novel. Of the nine mutations identified in this group of 10 families, five are nonsense or frameshift mutations. Truncation of the protein proximal to the recently identified C-terminal assembly domain is expected to preclude assembly of KCNQ1 monomers into tetramers and explains the recessive inheritance of JLNS. However, study of a frameshift mutation, with a dominant effect phenotypically, suggests the presence of another assembly domain nearer to the N-terminus.

Towards earlier diagnosis of 22q11 deletions.

Over a 7 year period, 551 patients were investigated for the presence of a chromosome 22q11 deletion by fluorescence in situ hybridisation. Analysis of the presenting features of the 67 individuals with this chromosome deletion permitted us to devise guidelines to facilitate early diagnosis.

Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.

OBJECTIVE: To map the gene responsible for autosomal dominant pure hereditary spastic paraplegia (ADPHSP) in a large affected family. BACKGROUND: Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is genetically heterogeneous, and loci have been mapped at chromosomes 2p (SPG4), 14q (SPG3), 15q (SPG6), and recently, in a single family, at chromosome 8q24 (SPG8). METHODS: The authors carried out a genomewide linkage screen on a large family with ADPHSP, for which linkage to the chromosome 2, 14, and 15 loci was excluded. RESULTS: Analysis of markers on chromosome 8q24 gave a peak two-point lod score of 4.49 at marker D8S1799. Analysis of recombination events in this family and in the previously published SPG8-linked family narrowed the SPG8 locus from 6.2 cM to a 3.4-cM region between markers D8S1804 and D8S1179. In another four families, linkage to all four known ADPHSP loci was excluded. The SPG8-linked family had a significantly older mean age at onset of symptoms and had significantly more wheelchair-using patients than the four linkage-excluded families. CONCLUSIONS: These results contain the presence of an autosomal dominant pure hereditary spastic paraplegia (ADPHSP) locus at chromosome 8q24 and strongly suggest that there are at least five ADPHSP loci. The data provide additional evidence for locus-phenotype correlations in ADPHSP.