Genome-Wide Association Study Identifies Genes for Hair Growth and Patterning are Associated With Pilonidal Disease.

BACKGROUND: Pilonidal sinus disease is a highly morbid condition characterized by the formation of chronic sinus tracts throughout the sacrococcygeal region. Despite its commonality and strong association with family history, no prior investigation of genetic risk factors for pilonidal sinus disease exists. OBJECTIVE: To identify genetic risk factors for pilonidal sinus disease. DESIGN: A genome-wide association study. SETTINGS: The United Kingdom Biobank, FinnGen Biobank, and Penn Medicine BioBank. PATIENTS: There were 772,072 participants. MAIN OUTCOME MEASURE: Genome-wide significant variants ( p < 5 × 10 -8 ) were mapped to genes using physical distance and gene expression in skin. Genetic correlation between pilonidal sinus disease and morphometric, androgen-driven, and hair phenotypes was estimated with linkage disequilibrium score regression. Finally, a genome-first approach to rare predicted deleterious variants in hair shaft genes TCHH , PADI3 , and TGM3 was conducted for association with pilonidal sinus disease via the Penn Medicine BioBank. RESULTS: A genome-wide association study comprising 2835 individuals with pilonidal sinus disease identified 5 genome-wide significant loci, prioritizing HDAC9, TBX15, WARS2, RP11-293M10.1 , PRKAR1B , TWIST1, GPATCH2L, NEK9 , and EIF2B2 , as putative causal genes; several of these genes have known roles in balding and hair patterning. There was a significant correlation between the genetic background of pilonidal sinus disease and the androgen-driven hair traits of male pattern baldness and young age at first facial hair. In a candidate analysis of genes associated with syndromic hair disorders, rare coding variants in TCHH , a monogenic cause of uncombable hair syndrome, were associated with increased prevalence of pilonidal sinus disease (OR 4.81 [95% CI, 2.06-11.2]). LIMITATIONS: This study is limited to European ancestry. However, because there is a higher incidence of pilonidal sinus disease in men of European ancestry, this analysis is focused on the at-risk population. CONCLUSIONS: Genetic analysis of pilonidal sinus disease identified shared genetic architecture with hair biology and androgen-driven traits. As the first study investigating the genetic basis of pilonidal sinus disease, this provides biological insight into the long-appreciated connection between the disease state, male sex, and hair. See Video abstract. UN ESTUDIO DE ASOCIACIN DEL GENOMA COMPLETO IDENTIFICA GENES DEL CRECIMIENTO Y EL PATRN DEL PELO ASOCIADOS A LA ENFERMEDAD PILONIDAL: ANTECEDENTES:La enfermedad del seno pilonidal es una condición muy mórbida caracterizada por la formación de tractos sinusales crónicos en toda la región sacrococcígea. A pesar de su frecuencia y su fuerte asociación con los antecedentes familiares, no se han investigado previamente los factores de riesgo genéticos de la enfermedad sinusal pilonidal.OBJETIVO:Identificar factores genéticos de riesgo para la enfermedad del seno pilonidal.DISEÑO:Estudio de asociación de genoma completo.CONJUNTOS:Biobanco del Reino Unido, Biobanco FinnGen y Biobanco PennMedicine.PACIENTES:772.072 participantes.MEDIDA DE RESULTADO PRINCIPAL:Las variantes significativas en todo el genoma (p < 5x10-8) se asignaron a genes utilizando la distancia física y la expresión génica en la piel. La correlación genética entre la enfermedad del seno pilonidal y los fenotipos morfométricos, androgénicos y de cabello se estimó con regresión de puntuación LD. Por último, se realizó una aproximación genómica a variantes deletéreas raras predichas en los genes del tallo piloso TCHH, PADI3 y TGM3 para su asociación con la enfermedad del seno pilonidal a través del Biobanco PennMedicine.RESULTADOS:El estudio de asociación de todo el genoma, que incluyó a 2.835 individuos con enfermedad del seno pilonidal, identificó 5 loci significativos en todo el genoma, dando prioridad a HDAC9, TBX15, WARS2, RP11-293M10.1, PRKAR1B, TWIST1, GPATCH2L, NEK9 y EIF2B2, como genes causales putativos; varios de estos genes tienen funciones conocidas en la calvicie y el patrón del cabello. Se observó una correlación significativa entre los antecedentes genéticos de la enfermedad del seno pilonidal y los de los rasgos calvicie de patrón masculino y edad temprana del primer vello facial impulsados por andrógenos. En un análisis de genes candidatos asociados a trastornos capilares sindrómicos, las variantes raras de codificación en TCHH, una causa monogénica del síndrome capilar incombustible, se asociaron a una mayor prevalencia de la enfermedad del seno pilonidal (OR 4,81 [IC del 5%, 2,06-11,2]).LIMITACIONES:Este estudio se limita a la ascendencia europea. Sin embargo, debido a que hay una mayor incidencia de la enfermedad sinusal pilonidal en los hombres de ascendencia europea, este análisis se centra en la población de riesgo.CONCLUSIÓN:El análisis genético de la enfermedad del seno pilonidal identificó una arquitectura genética compartida con la biología del cabello y los rasgos impulsados por andrógenos. Siendo el primer estudio que investiga las bases genéticas de la enfermedad del seno pilonidal, esto proporciona una visión biológica de la conexión, apreciada desde hace tiempo, entre el estado de la enfermedad, el sexo masculino y el cabello. (Traducción-Dr. Aurian Garcia Gonzalez ).

The Urology Match Process and the Limited Value of Post-Interview Communication for Program Directors.

OBJECTIVE: To understand the urology Match process from the perspective of residency program directors, with a particular focus on the role of postinterview communication. Recent surveys of urology applicants revealed that postinterview communication from programs often violates the rules of the American Urological Association Urology Residency Matching Program (the "Match"), and that such communication may influence applicant rank lists. METHODS: An anonymous, electronic survey seeking information regarding postinterview communication during the Match was sent to all program directors of urology residency programs participating in the 2017 AUA Match cycle. RESULTS: Of 138 surveys sent, 84 were completed for a 61% response rate. Among respondents, 97.6% percent of programs received postinterview communication from applicants, 76.2% of programs received an informal commitment from an applicant, and 38.3% failed to match an applicant who made an informal commitment. Most program directors (81.7%) responded that promises by applicants did not influence their rank list, and 57.1% state that participating in a second look does not have the potential to influence an applicant's rank order. Cumulatively, 76.2% of program directors felt that it was appropriate for applicants to cancel an interview if they provided 2 or more weeks' notice. CONCLUSION: The current study suggests that urology program directors do not ascribe significant value to continued contact with applicants after the interview, regardless of whether such contact is in the form of postinterview communication or in the form of second-look visits.

Interprofessional Simulations to Inform Perioperative Facility Planning and Design.

OBJECTIVE: The purpose of this study is to report our experience with interprofessional simulations, executed in a mock-up of a proposed perioperative space, that were designed to elicit valuable end-user feedback on the design of the perioperative space. DESIGN: A styrofoam, life-sized model of a perioperative unit was constructed. Various medical professionals and support staff participated in interactive sessions, including workflow simulations, and provided feedback on the perioperative design. Based on participant feedback, the perioperative design was modified, and the styrofoam model was re-constructed. A second round of sessions was conducted, and the change in participant feedback was analyzed. SETTING: This study took place under the auspices of the University of Pennsylvania in Philadelphia, Pennsylvania, within Penn Medicine. PARTICIPANTS: One-hundred and ninety-three medical professionals and front line operating room staff participated in the initial round of interactive sessions, and 134 participated in the second round (after re-construction). RESULTS: In the first round of simulations and interactive sessions, participants spent 560 hours engaging with the space. Modifications were then made to the perioperative design based on participant feedback, and a second round was conducted, in which participants spent 403 hours in the space. Floor plans for round 2 show significant changes compared with round 1, and mean design satisfaction scores for round 2 (3.78 ± 0.41) were significantly higher than for round 1 (3.61 ± 0.49) (p = 0.02). The quality of feedback was associated with the type of interactive session the user participated in. CONCLUSIONS: This study suggests that simulations and other interactive sessions, when executed in a mock-up of a proposed perioperative space, can elicit valuable end-user feedback that impacts the final design of the perioperative space and that would traditionally be difficult to obtain until after construction and move-in.

The Urology Match and Postinterview Communication.

OBJECTIVE: To understand the frequency and nature of postinterview communication as it relates to the rules and regulations of the American Urological Association Urology Residency Match, as well as the impact of such communication on the outcomes of the match. METHODS: An anonymous, electronic survey questionnaire was sent to all applicants to a single urology residency training program during the 2017 American Urological Association match cycle. The survey was administered 1 month after the release of match results and queried applicants regarding their experiences with postinterview communication. RESULTS: Of 231 surveys sent, 78 were returned completed for a 34% response rate. Among respondents, 47 (60%) reported receiving postinterview communication from at least one residency program, 20 (26%) were asked to reveal where they would be ranking a program on their rank list, and 15 (19%) reported that postinterview communication caused them to rank a program higher than initially planned, or to keep the program ranked at #1 if currently ranked there. Postinterview communication via telephone was associated with significantly increased odds of matching at the contacting program (odds ratio 20.0, 95% confidence interval 2.12-188.66, P = 0.003). CONCLUSION: Postinterview communication between applicants and urology residency programs is prevalent, with numerous violations of the rules of the match. Prohibited communication may impact the rank lists of urology applicants.

Patient preference for time-saving telehealth postoperative visits after routine surgery in an urban setting.

BACKGROUND: Focusing on high-value delivery of health care, we describe our implementation of telephone postoperative visits as alternatives to in-person follow-up after routine, low-risk surgery in an urban setting. Our pilot program assessed telephone postoperative visit feasibility as well as patient satisfaction and clinical outcomes. METHODS: We offered telephone postoperative visits to all clinically eligible, in-state patients scheduled for appropriate low-risk operations. An advanced practitioner conducted the telephone postoperative visit within 2 weeks of the operation and discharged patients from routine follow-up if recovery was satisfactory. We reviewed the medical records to identify encounters and adverse events in the 30-day postoperative period. RESULTS: Telephone postoperative visits were opted for by 92/94 (98%) clinically eligible, in-state patients. Most patients cited convenience (55%), travel (34%), and time (22%) as their main motivations. The average patient opting in was 55 ± 16 years old (range 23-88, 8% > 65) and lived 22 ± 26 miles from our clinic (range 0.9-124). Of 50 patients completing telephone postoperative visits, 48 (96%, 2 were not asked) were satisfied with the telephone postoperative visit as their sole postoperative visit, 44 (88%) of whom required no additional follow-up. On average, telephone postoperative visits lasted 8.6 ± 3.9 minutes, compared with the 82.8 ± 33.4 minutes for preintervention, postoperative visit time. Adding travel times, we estimate each patient saved an average of 139-199 minutes or 94-96% of the time they would have spent coming to clinic. No instances of major morbidity or mortality were identified on chart review. CONCLUSION: Many patients find telephone postoperative visits more convenient than in-clinic visits. Moreover, estimates of time saved are compelling. Amid changing regulations and reimbursement, our findings support the growing use of telehealth for postoperative care of routine, low risk operations.

Integration of Hands-On Team Training into Existing Curriculum Improves Both Technical and Nontechnical Skills in Laparoscopic Cholecystectomy.

OBJECTIVE: Nontechnical skills are an essential component of surgical education and a major competency assessed by the ACGME milestones project. However, the optimal way to integrate nontechnical skills training into existing curricula and then objectively evaluate the outcome is still unknown. The aim of this study was to determine the effect laparoscopic team-based task training would have on the nontechnical skills needed for laparoscopic surgery. DESIGN: 9 PGY-1 residents underwent an established training curriculum for teaching the knowledge and technical skills involved in laparoscopic cholecystectomy. Initial training involved a didactic session, expert-led practice on a porcine model in a simulated operating room and laparoscopic skills practice on a virtual reality trainer. Residents then performed a laparoscopic cholecystectomy on the same porcine model as a preintervention test. Three to four months following this, residents were subjected to specific nontechnical skills training involving 2 simple team-based laparoscopic tasks. They then practiced a further 4 to 6 hours on the virtual reality trainer. A repeat postintervention laparoscopic cholecystectomy was then performed 3 to 4 months after nontechnical skills training. Both the preintervention and postintervention laparoscopic cholecystectomies were audiovisually recorded and then evaluated by 2 independent surgeons in a blinded fashion. Technical skills were assessed using objective structured assessment of technical skills (OSATS) and a technique specific rating scale (TRS) that we developed for laparoscopic cholecystectomy. Nontechnical skills were assessed using nontechnical skills for surgeons (NOTSS). Residents also completed a survey at the beginning and end of the training. SETTING: Tertiary care, university based teaching institution. PARTICIPANTS: A total of 9 general surgery residents at the intern level. RESULTS: The mean OSATS score improved from 13.7 ± 1.24 to 26.7 ± 0.31 (p < 0.001), the mean TRS score improved from 6 ± 0.46 to 13.1 ± 0.36 (p < 0.001) and the mean NOTSS score improved from 21.7 ± 1.83 to 36.3 ± 0.87 (p < 0.001) following the training. There was a strong correlation between OSATS and NOTSS scores (Pearson's R = 0.98) and TRS and NOTSS (R = 0.94). The inter-rater agreement was 0.79 for NOTSS, 0.9 for OSATS, and 0.82 for TRS. Following completion of the training, residents self-reported improvements in exchanging information (p < 0.01), coordinating activities (p < 0.01) and coping with pressure in the operating room (p < 0.001). CONCLUSION: Simple, team-based nontechnical skills training for laparoscopic cholecystectomy that was separate from technical skills training led to a sustained increase in residents' nontechnical skills 3 to 4 months after training. This was associated with a self-reported improvement in many nontechnical skills based on resident survey. Based on these results, we recommend that such designated nontechnical skills training is a valid alternative to other methods such as coaching and debriefing. We, therefore, plan to continue our efforts to develop team-based simulation tasks aimed at improving nontechnical skills for multiple surgical modalities.

In Situ Operating Room-Based Simulation: A Review.

OBJECTIVE: To systematically review the literature surrounding operating room-based in situ training in surgery. METHODS: A systematic review was conducted of MEDLINE. The review was conducted based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) methodology, and employed the Population, Intervention, Comparator, Outcome (PICO) structure to define inclusion/exclusion criteria. The Kirkpatrick model was used to further classify the outcome of in situ training when possible. RESULTS: The search returned 308 database hits, and ultimately 19 articles were identified that met the stated PICO inclusion criteria. Operating room-based in situ simulation is used for a variety of purposes and in a variety of settings, and it has the potential to offer unique advantages over other types of simulation. Only one randomized controlled trial was conducted comparing in situ simulation to off-site simulation, which found few significant differences. One large-scale outcome study showed improved perinatal outcomes in obstetrics. CONCLUSIONS: Although in situ simulation theoretically offers certain advantages over other types of simulation, especially in addressing system-wide or environmental threats, its efficacy has yet to be clearly demonstrated.

Medical School Surgical Boot Camps: A Systematic Review.

PURPOSE: Many medical schools have begun to offer surgical boot camps to senior medical students. The aim of the present study is to systematically review the literature and evidence surrounding medical school surgical boot camps to direct future research into the effectiveness of boot camps. METHODS: A systematic review was conducted, searching MEDLINE, EMBASE, PsycINFO, CINAHL, and ERIC. The review was conducted according to the PICOTS structure, with an intervention of a surgical boot camp for senior medical students entering surgical residencies. RESULTS: The search resulted in 5351 database hits, from which we identified 10 published studies that met the inclusion criteria. Two reviews were identified that met the PICOTS criteria but were excluded from data synthesis. Boot camps increase the confidence and competence of medical students entering their surgical internships. There is no objective assessment of the effect of boot camps on the clinical performance of interns. CONCLUSIONS: Despite the success of medical school surgical boot camps, no objective data exist to show that boot camps translate into improved performance during internship.

The Surgical Management of Obesity.

In the United States, more than one-third of the population is obese. Currently, bariatric surgery is the best known treatment for obesity, and multiple meta-analyses have shown bariatric surgery to be more effective for treating obesity than diet and exercise or pharmacologic treatment. The modern era of bariatric surgery began in 2005, which is defined by a drastic increase in the use of laparoscopy. Bariatric surgery has the potential to improve obesity-related comorbidities, such as type 2 diabetes, cardiovascular disease, and sleep apnea. The effect of bariatric surgery on weight loss and comorbidities varies by the type of procedure.

Can Simulated Team Tasks be Used to Improve Nontechnical Skills in the Operating Room?

OBJECTIVE: The purpose of this study was to understand the effect of a team-based surgical skills intervention on the technical and nontechnical skills of surgery residents. DESIGN: This was a prospective cohort study with pretesting or posttesting. We designed basic tasks for the assessment and learning of nontechnical skills in the operating room (OR). A total of 15 postgraduate year 1 residents performed an open gastrojejunostomy in a simulated OR setting (pretest), followed by training in the 3 team-based tasks designed to teach communication and teamwork, followed by performance of a gastrojejunostomy in the simulated OR (posttest). SETTING: Tertiary care, university-based teaching institution. PARTICIPANTS: A total of 15 general surgery residents at the intern level. RESULTS: The mean nontechnical skills for surgeons (NOTSS) score improved postteam task training (10.04 ± 0.33 vs. 12.14 ± 1.33). There was a concomitant increase in the objective structured assessment of technical skills (OSATS) score (18.56 ± 0.86 vs. 22.86 ± 0.15, p = 0.006). The percentage increases in OSATS and NOTSS score for each resident was similar (19.49 ± 4.8 % for NOTSS vs. 21.22 ± 4.92 % for OSATS, p = 0.502). CONCLUSION: Nontechnical skills positively correlate with the technical performance of a surgeon. Simple, easily designed tasks can be used to improve NOTSS in the OR. These team tasks and development of curricula based on them can be used to explicitly address one of the most important components of ACGME core competencies for surgical residents, namely interpersonal skills and communication.

The role of body mass index class in cholecystectomy after acute cholecystitis: An American College of Surgeons National Surgical Quality Improvement Program analysis.

BACKGROUND: Obesity is a risk factor for cholelithiasis leading to acute cholecystitis which is treated with cholecystectomy. The purpose of this study was to analyze the associations between body mass index class and the intended operative approach (laparoscopic versus open) for and outcomes of cholecystectomy for acute cholecystitis. METHODS: We conducted a retrospective cohort study using the American College of Surgeons National Surgical Quality Improvement Program data from 2008-2013. The effects of body mass index class on intended procedure type (laparoscopic versus open), conversion from laparoscopic to open operation, and outcomes after cholecystectomy were examined using multivariable logistic regression. RESULTS: Data on 20,979 patients who underwent cholecystectomy for acute cholecystitis showed that 18,228 (87%) had a laparoscopic operation; 639 (4%) of these patients required conversion to an open approach; and 2,751 (13%) underwent intended open cholecystectomy. There was an independent association between super obesity (body mass index 50+) and an intended open operation (odds ratio 1.53, 95% confidence interval 1.14-2.05, P = .01). An intended open procedure (odds ratio 3.10, 95% confidence interval 2.40-4.02, P < .0001) and conversion (odds ratio 3.45, 95% confidence interval 2.16-5.50, P < .0001) were associated with increased risk of death/serious morbidity in a model, even when controlling for all other important factors. In the same model, body mass index class was not associated with increased death/serious morbidity. Outcomes after conversion were not substantially worse than outcomes after intended open cholecystectomy. CONCLUSION: This study supports the possibility that an intended open approach to acute cholecystitis, not body mass index class, is associated with worse outcomes after cholecystectomy. An initial attempt at laparoscopy may benefit patients, even those at the highest end of the body mass index spectrum.

Endoscopic treatments of obesity: a comprehensive review.

BACKGROUND: Obesity remains a significant problem in the United States. Bariatric surgery is the most effective treatment for obesity, but it is cost-prohibitive on both a national and individual scale. Access is also limited, and less than 1% of the eligible population receives bariatric surgery. Endoscopic therapies for obesity have emerged as an alternative to bariatric surgery, 2 of which have recently been approved by the U.S. Food and Drug Administration (FDA). This study provides a comprehensive overview of the endoscopic treatments of obesity and summarizes their outcomes. OBJECTIVES: To provide clinicians with a comprehensive overview of the endoscopic treatments of obesity. SETTING: University Hospital, United States. METHODS: Multiple searches of PubMed were conducted using various keywords and MeSH terms. Backwards citation searching and hand-searching were also conducted to ensure completeness. RESULTS: The current endoscopic treatments of obesity can be divided into 6 main categories: 1) space-occupying devices, 2) restrictive procedures, 3) bypass liners, 4) electrical stimulation, 5) aspiration therapy, and 6) other therapies. Intragastric balloons, a space-occupying device, are the best-studied of all the treatments. They show 30%-50% excess weight loss after device removal but lack significant long-term follow-up. CONCLUSIONS: With the recent Food and Drug Administration approval of intragastric balloons, this treatment is likely to rise in popularity. Short-term outcomes appear promising but long-term results are unclear.

Ranibizumab versus mitomycin C in primary trabeculectomy--a pilot study.

PURPOSE: The current standard adjunctive agent used in primary trabeculectomy is mitomycin C (MMC), but it is associated with well known complications. The objective of this study is to test the feasibility of the anti-vascular endothelial growth factor (anti-VEGF) agent ranibizumab for adjunctive use instead of MMC (0.4 mg/ml). MATERIALS AND METHODS: A prospective, randomized open label study of 24 consecutive patients undergoing primary trabeculectomy at the Wills Eye Institute Glaucoma Service from March 2008 through February 2010 was conducted. Twenty-four eyes were included in the study and clinical outcomes were examined. RESULTS: There were no significant differences in baseline demographic or clinical characteristics between the ranibizumab and MMC groups. Nine of the 12 ranibizumab patients completed the 1 year study. Three subjects required tube shunt surgery and were removed from the study. Eleven of 12 MMC patients completed the study (one underwent hip surgery and was lost to follow-up). Mean intra-ocular pressure (IOP) was significantly higher in the ranibizumab arm at 1 month (p = 0.002). Bleb extent was significantly less in the ranibizumab arm at 6 months (p = 0.006). Patients in the ranibizumab arm required more hypotensive medication at month 3 (p = 0.011). CONCLUSIONS: Although there was no IOP difference or difference in medication use between the two treatment groups at one year, more patients in the ranibizumab group required additional glaucoma surgery during the study period.