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The management of oligometastatic colorectal cancer differs from the treatment of metastatic colorectal cancer, and it is essential that those who treat oligometastatic disease be familiar with the treatment options for these patients. Although definitive treatment is often surgical, there are situations where local therapies such as SBRT or ablative techniques may better serve the patient. Adjuvant therapy should be provided to all patients, and neoadjuvant chemotherapy should be considered as well. The role of immunotherapy is currently limited due to the lack of clinical trials in this area.
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Neoplasias Colorretais , Humanos , Neoplasias Colorretais/terapia , Neoplasias Colorretais/patologia , Terapia Combinada , Terapia Neoadjuvante/métodos , Metástase Neoplásica , Guias de Prática Clínica como AssuntoRESUMO
BACKGROUND: The management of a small bowel obstruction (SBO) remains a challenge for general surgeons. The majority of SBOs can be treated conservatively; however, when surgery is required, the timing of operative intervention remains uncertain. Utilizing a large national database, we sought to evaluate the optimal timeframe for surgery following hospital admission with a diagnosis of SBO. METHODS: This was a retrospective review utilizing the Nationwide Inpatient Sample (2006-2015). Outcomes following surgery for SBO were identified using ICD-9-CM coding. Two comorbidity indices were utilized to determine severity of illness. Patients were stratified into four groups based on time in days from admission to surgery. Propensity score models were created to predict the number of days until surgery following admission. Multivariate regression analysis was performed to determine risk adjusted postoperative outcomes. RESULTS: We identified 92 807 cases of non-elective surgery for SBO. The overall mortality rate was 4.7%. Surgery on days 3-5 was associated with the lowest rate of mortality. A longer preoperative length of stay (LOS) (3-5 days) was associated with a significantly greater number of wound (OR = 1.24) and procedural (OR = 1.17) complications compared to day 0. However, delayed surgical intervention (≥6 days) was associated with decreased cardiac (OR = .69) and pulmonary complications (OR = .58). DISCUSSION: After adjustment, a preoperative LOS of 3-5 days was associated with a decreased risk of mortality. In addition, increasing preoperative LOS was associated with decreased cardiopulmonary complications. However, an increased risk of procedural and wound complications during this time period suggest surgery may be more technically challenging.
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Pacientes Internados , Obstrução Intestinal , Humanos , Complicações Pós-Operatórias/epidemiologia , Complicações Pós-Operatórias/etiologia , Obstrução Intestinal/etiologia , Obstrução Intestinal/cirurgia , Tempo de Internação , Intestino Delgado/cirurgia , Estudos RetrospectivosRESUMO
OBJECTIVE: The purpose of this study is to define the publication patterns and the impact of self-citation among program directors of surgical fellowships. METHODS: Program directors were identified through the respective fellowship accrediting council and association websites for eleven surgical subspecialties. Using the Scopus database, the number of publications, citations, self-citations, and h-indices were calculated. RESULTS: 781 program directors were identified. The mean number⯱â¯SD of publications, citations, and h-index for the cohort were 74.6⯱â¯88.2, 2141⯱â¯3486, and 18.8⯱â¯14.5, respectively. The self-citation rate for the entire cohort was 3.17%. After excluding self-citations, the h-index remained unchanged for 72% of surgeons. After propensity score matching for h-index, colorectal surgeons (1.48%, pâ¯=â¯0.04) had significantly lower self-citation rates. CONCLUSION: Overall, self-citation is infrequent among program directors of surgical fellowships. There is a lower rate of self-citation among colorectal surgeons when compared to program directors in other specialties with similar baseline metrics.
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Autoria , Bolsas de Estudo , Editoração/estatística & dados numéricos , Especialidades Cirúrgicas , Estados UnidosRESUMO
Surgeons face hazardous working conditions due to ergonomic deficiencies found throughout the operating room. More than 80% of surgeons have succumbed to a work-related injury or illness as a consequence of sustaining awkward or static positions throughout lengthy operations over a career. While the focus of the procedure is directed to the patient, there is little concurrent regard for proper posture or spinal stability. Even when symptoms of discomfort are experienced, they are often ignored. This results in decreased production and may ultimately threaten surgical careers. Surgeons are often unaware of recommendations or guidelines designed to improve their comfort while operating. Furthermore, there is a significant lack of any formal ergonomic education, especially for minimally invasive procedures. Several modifiable risk factors can be adjusted in the operating room to provide a safer working environment. In addition, strengthening, stability, and exercise programs directed by a trained therapist may be employed to improve the surgeon's musculoskeletal health.
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BACKGROUND: As our nation's population ages, operating on older and sicker patients occurs more frequently. Robotic operations have been thought to bridge the gap between a laparoscopic and an open approach, especially in more complex cases like proctectomy. METHODS: Our objective was to evaluate the use and outcomes of robotic proctectomy compared to open and laparoscopic approaches for rectal cancer in the elderly. A retrospective cross-sectional cohort study utilizing the Nationwide Inpatient Sample (NIS; 2006-2013) was performed. All cases were restricted to age 70 years old or greater. RESULTS: We identified 6740 admissions for rectal cancer including: 5879 open, 666 laparoscopic, and 195 robotic procedures. The median age was 77 years old. The incidence of a robotic proctectomy increased by 39%, while the open approach declined by 6% over the time period studied. Median (interquartile range) length of stay was shorter for robotic procedures at 4.3 (3-7) days, compared to laparoscopic 5.8 (4-8) and open at 6.7 (5-10) days (pâ¯<â¯0.01), while median total hospital charges were greater in the robotic group compared to laparoscopic and open cases ($64,743 vs. $55,813 vs. $50,355, respectively, pâ¯<â¯0.01). There was no significant difference in the risk of total complications between the different approaches following multivariate analysis. CONCLUSION: Robotic proctectomy was associated with a shorter LOS, and this may act as a surrogate marker for an overall improvement in adverse events. These results demonstrate that a robotic approach is a safe and feasible option, and should not be discounted solely based on age or comorbidities.
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BACKGROUND: Short-term results have shown that transanal total mesorectal excision is safe and effective for patients with mid to low rectal cancers. Transanal total mesorectal excision is considered technically challenging; thus, adoption has been limited to a few academic centers in the United States. OBJECTIVE: The aim of this study is to describe outcomes after the initiation of a transanal total mesorectal excision program in the setting of an academic colorectal training program. DESIGN: This is a single-center retrospective review of consecutive patients who underwent transanal total mesorectal excision from December 2014 to August 2016. SETTING: This study was conducted at an academic center with a colorectal residency program. PATIENTS: Patients with benign and malignant diseases were selected. INTERVENTION: All transanal total mesorectal excisions were performed with abdominal and perineal teams working simultaneously. OUTCOME MEASURES: The primary outcomes measured were pathologic quality, length of hospital stay, 30-day morbidity, and 30-day mortality. RESULTS: There were 40 patients (24 male). The median age was 55 years (interquartile range, 46.7-63.4) with a median BMI of 29 kg/m (interquartile range, 24.6-32.4). The primary indication was cancer (n = 30), and tumor height from the anal verge ranged from 0.5 to 15 cm. Eighty percent (n = 24) of the patients who had rectal cancer received preoperative chemoradiation. The most common procedures were low anterior resection (67.5%), total proctocolectomy (15%), and abdominoperineal resection (12.5%). Median operative time was 380 minutes (interquartile range, 306-454.4), with no change over time. For patients with malignancy, the mesorectum was complete or nearly complete in 100% of the specimens. A median of 14 lymph nodes (interquartile range, 12-17) were harvested, and 100% of the rectal cancer specimens achieved R0 status. Median length of stay was 4.5 days (interquartile range, 4-7), and there were 6 readmissions (15%). There were no deaths or intraoperative complications. LIMITATIONS: This study's limitations derive from its retrospective nature and single-center location. CONCLUSIONS: A transanal total mesorectal excision program can be safely implemented in a major academic medical center. Quality outcomes and patient safety depend on a comprehensive training program and a coordinated team approach. See Video Abstract at http://links.lww.com/DCR/A448.
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Avaliação de Processos e Resultados em Cuidados de Saúde , Segurança do Paciente , Neoplasias Retais/cirurgia , Cirurgia Endoscópica Transanal/educação , Centros Médicos Acadêmicos , Educação de Pós-Graduação em Medicina , Feminino , Mortalidade Hospitalar , Humanos , Internato e Residência , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Neoplasias Retais/mortalidade , Estudos Retrospectivos , Estados UnidosRESUMO
BACKGROUND: Crohn's disease is an aggressive chronic inflammatory disorder, and despite medical advances no cure exists. There is a great risk of requiring an operative intervention, with evidence of recurrence developing in up to 80-90% of cases. Therefore, we sought to systematically review the current status in the postoperative medical management of Crohn's disease. DATA SOURCES: A systematic literature review of medications administered following respective therapy for Crohn's disease was performed from 1979 through 2016. Twenty-six prospective articles provided directed guidelines for recommendations and these were graded based on the level of evidence. CONCLUSIONS: The postoperative management of Crohn's disease faces multiple challenges. Current indicated medications in this setting include: antibiotics, aminosalicylates, immunomodulators, and biologics. Each drug has inherent risks and benefits, and the optimal regimen is still unknown. Initiating therapy in a prophylactic fashion compared to endoscopic findings, or escalating therapy versus treating with the most potent drug first is debated. Although a definitive consensus on postoperative treatment is necessary, aggressive and early endoluminal surveillance is paramount in the treatment of these complicated patients.
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Doença de Crohn/tratamento farmacológico , Doença de Crohn/cirurgia , Cuidados Pós-Operatórios/tendências , HumanosRESUMO
INTRODUCTION: Routine splenic flexure mobilization (SFM) has been previously recommended to ensure an adequate length for a tension free anastomosis during resection for diverticulitis. We sought to evaluate the role of selective SFM for diverticulitis, and its impact on outcomes. MATERIALS AND METHODS: Retrospective review of elective colectomies at a tertiary care center (2007-2015) for left-sided diverticulitis were identified from the National Surgical Quality Improvement Program. Demographics and perioperative characteristics were compared; and 30-day risk-adjusted outcomes were assessed. RESULTS: We identified 208 sigmoid/left colectomy cases. A laparoscopic approach predominated (71%), and SFM was performed in 54% of cases (n = 113). Demographics and comorbidities were similar. Median operative time was greater in the SFM group [226; interquartile range (IQR): (190-267) minutes] compared to no mobilization [180; IQR: (153-209) minutes] (p < 0.01). After risk adjustment, SFM was associated with a trend towards an increased rate of a minor morbidity (OR: 2.8; p = 0.05). CONCLUSION: Splenic flexure mobilization was performed selectively in half of colectomies evaluated. This technique was associated with a trend towards an increased rate of minor complications, with no difference in major adverse events, including organ space infections. These findings suggest that for patient with diverticulitis, SFM should be performed in an individualized fashion.
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Colectomia/métodos , Colo Transverso/cirurgia , Diverticulite/cirurgia , Laparoscopia/métodos , Anastomose Cirúrgica/efeitos adversos , Anastomose Cirúrgica/métodos , Colectomia/efeitos adversos , Comorbidade , Feminino , Humanos , Laparoscopia/efeitos adversos , Tempo de Internação , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Estudos RetrospectivosRESUMO
Following FDA approval, robotic-assisted colorectal surgery (RACS) has increased in prevalence. We aimed to identify trends in utilization and patient characteristics of RACS in the United States using the University HealthSystem Consortium database between October 2011-September 2015. Outcome measures were number and percentage of procedures performed with robotic-assistance. 7100 patients were identified. The most common procedures were low anterior resection, sigmoid colectomy, abdominoperineal resection, right colectomy, rectopexy, left colectomy, and total colectomy. There was a 158% increase in RACS procedures. As a percentage of all approaches, RACS increased from 2.6% to 6.6%. The number of centers performing RACS increased from 105 to 140. Over the study period, the complexity of patients increased, with the percentage of patients with ≥3 comorbidities rising from 18% to 24% (p = 0.03) and patients with a moderate severity of illness score increasing from 35% to 41% (p = 0.04). RACS has expanded significantly in volume, number of centers, and patient selection. Further studies evaluating outcomes and cost of RACS are required to determine whether these increases are justified by improved clinical outcomes.
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Doenças do Colo/cirurgia , Doenças Retais/cirurgia , Procedimentos Cirúrgicos Robóticos/tendências , Difusão de Inovações , Procedimentos Cirúrgicos do Sistema Digestório/métodos , Procedimentos Cirúrgicos do Sistema Digestório/tendências , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
BACKGROUND: The National Surgical Quality Improvement Program (NSQIP) and the National Inpatient Sample (NIS) may be used to evaluate outcomes for uncommon conditions such as rectourethral fistulas (RUFs). We sought to review cases of RUFs and compare variables from both registries to evaluate disparities among reported data. METHODS: Review of NSQIP (2005-2013) and NIS (2006-2011) of all patients with a RUF or RUF repair based on ICD-9-CM or CPT coding. RESULTS: The NSQIP and NIS data sets were compared based on International Classification of Diseases, 9th Revision, Clinical Modification diagnosis coding for a RUF (599.1; American College of Surgeons National Surgical Quality Improvement Program: n = 286, NIS: n = 2,357). Comorbidities varied between data sets, and in-hospital morbidity in RUF cases was greater in the NIS vs NSQIP data sets (48% vs 11%; P < .01). Further analysis identified similar outcomes when cases of a RUF that underwent an operation were compared in the NSQIP (n = 284) and NIS (n = 274) database. CONCLUSIONS: This study represents the largest cohort of RUF cases and characterizes how using variables from both databases better elucidates details of this rare condition. These results exhibit how evaluating comparable metrics demonstrates inconsistencies between databases.
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Avaliação de Resultados da Assistência ao Paciente , Fístula Retal/cirurgia , Sistema de Registros , Doenças Uretrais/cirurgia , Fístula Urinária/cirurgia , Adolescente , Adulto , Idoso , Comorbidade , Feminino , Mortalidade Hospitalar , Humanos , Tempo de Internação/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Duração da Cirurgia , Complicações Pós-Operatórias/epidemiologia , Fístula Retal/epidemiologia , Estudos Retrospectivos , Estados Unidos/epidemiologia , Doenças Uretrais/epidemiologia , Fístula Urinária/epidemiologia , Adulto JovemRESUMO
INTRODUCTION: There remains a paucity of recent data on right-sided colonic diverticulitis, especially those undergoing colectomy. We sought to describe the clinical features of patients undergoing both a laparoscopic and open surgery for right-sided diverticulitis. METHODS: This study is a review of all cases of a right colectomy or ileocecectomy for diverticulitis from the National Inpatient Sample (NIS) from 2006 to 2012. Demographics, comorbidities, and postoperative outcomes were identified for all cases. A comparative analysis of a laparoscopic versus open approach was performed. RESULTS: We identified 2233 admissions (laparoscopic = 592; open = 1641) in the NIS database. The majority of cases were Caucasian (67 %), with 6 % of NIS cases identified as Asian/Pacific Islander. The overall morbidity and in-hospital mortality rates were 24 and 2.7 %, respectively. The conversion rate from a laparoscopic to open procedure was 34 %. Postoperative complications were greater in the open versus laparoscopic cohorts (25 vs. 19 %, p < 0.01), with pulmonary complications as the highest (7.0 vs. 1.7 %; p < 0.01). CONCLUSION: This investigation represents one of the largest cohorts of colon resections to treat right-sided diverticulitis in the USA. In this series, right-sided diverticulitis undergoing surgery occurred most commonly in the Caucasian population and is most often approached via an open surgical technique; however, laparoscopy is a safe and feasible option.
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Colectomia/estatística & dados numéricos , Doença Diverticular do Colo/epidemiologia , Doença Diverticular do Colo/cirurgia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Bases de Dados Factuais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Resultado do Tratamento , Estados Unidos/epidemiologia , Adulto JovemRESUMO
BACKGROUND: Clinical and administrative databases each have fundamental distinctions and inherent limitations that may impact results. OBJECTIVE: This study aimed to compare the American College of Surgeons National Surgical Quality Improvement Program and the Nationwide Inpatient Sample, focusing on the similarities, differences, and limitations of both data sets. DESIGN: All elective open and laparoscopic segmental colectomies from American College of Surgeons National Surgical Quality Improvement Program (2006-2013) and Nationwide Inpatient Sample (2006-2012) were reviewed. International Classification of Diseases, Ninth Revision, Clinical Modification coding identified Nationwide Inpatient Sample cases, and Current Procedural Terminology coding for American College of Surgeons National Surgical Quality Improvement Program. Common demographics and comorbidities were identified, and in-hospital outcomes were evaluated. SETTINGS: A national sample was extracted from population databases. PATIENTS: Data were derived from the Nationwide Inpatient Sample database: 188,326 cases (laparoscopic = 67,245; open = 121,081); and American College of Surgeons National Surgical Quality Improvement Program: 110,666 cases (laparoscopic = 54,191; open = 56,475). MAIN OUTCOME MEASURES: Colectomy data were used as an avenue to compare differences in patient characteristics and outcomes between these 2 data sets. RESULTS: Laparoscopic colectomy demonstrated superior outcomes compared with open; therefore, results focused on comparing a minimally invasive approach among the data sets. Because of sample size, many variables were statistically different without clinical relevance. Coding discrepancies were demonstrated in the rate of conversion from laparoscopic to open identified in the National Surgical Quality Improvement Program (3%) and Nationwide Inpatient Sample (15%) data sets. The prevalence of nonmorbid obesity and anemia from National Surgical Quality Improvement Program was more than twice that of Nationwide Inpatient Sample. Sepsis was statistically greater in National Surgical Quality Improvement Program, with urinary tract infections and acute kidney injury having a greater frequency in the Nationwide Inpatient Sample cohort. Surgical site infections were higher in National Surgical Quality Improvement Program (30-day) vs Nationwide Inpatient Sample (8.4% vs 2.6%; p < 0.01), albeit less when restricted to infections that occurred before discharge (3.3% vs 2.6%; p < 0.01). LIMITATIONS: This is a retrospective study using population-based data. CONCLUSION: This analysis of 2 large national databases regarding colectomy outcomes highlights the incidence of previously unrecognized data variability. These discrepancies can impact study results and subsequent conclusions/recommendations. These findings underscore the importance of carefully choosing and understanding the different population-based data sets before designing and when interpreting outcomes research.
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Colectomia/métodos , Bases de Dados Factuais , Laparoscopia , Melhoria de Qualidade , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Confiabilidade dos Dados , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Indicadores de Qualidade em Assistência à Saúde , Estudos Retrospectivos , Estados Unidos , Adulto JovemRESUMO
BACKGROUND: Crohn's disease is a chronic inflammatory disorder, and the broad variability in phenotypic presentations makes the treatment of this disease a true multidisciplinary approach. We sought to review the current recommendations regarding the surgical management of Crohn's disease. DATA SOURCE: A Systematic literature review of surgical techniques was performed from 1979 through 2015. We evaluated 30 articles focusing on findings over the past 5 years. CONCLUSIONS: Crohn's is a complex disease with no surgical cure. Invasive techniques vary from strictureplasty to resection and percutaneous drainage of penetrating disease when indicated. There is a paucity of well-controlled randomized studies evaluating these surgical techniques, and therefore, we continue to rely on smaller studies and historical data. The surgical goals are to minimize postoperative complications while preserving intestinal length and slowing the progression to clinical recurrence. The evidence discussed is one strategy against this complex pathology.
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Doença de Crohn/cirurgia , Anastomose Cirúrgica , Constrição Patológica/cirurgia , Doença de Crohn/complicações , Humanos , Obstrução Intestinal/cirurgia , Intestinos/cirurgiaRESUMO
The accidental ingestion of a foreign object often presents a difficult scenario for the clinician. This includes not only the decision to retrieve the material but also the appropriate technique to use. We present the case of a young asymptomatic girl who swallowed a magnetic activity watch, which was then successfully retrieved with an endoscopic snare. To our knowledge, this is the first documented case of salvaging an operational watch from the stomach using an endoscopic technique.
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BACKGROUND: Since the introduction of laparoscopic colectomy, experience and technology continue to improve. Although accepted for many colorectal conditions, its use and outcomes in complex procedures are less understood. OBJECTIVE: The purpose of this work was to compare the perioperative outcomes of laparoscopic transverse colectomy and total abdominal colectomy (study group) with an open approach (comparative group) and the more established laparoscopic right, left, and sigmoid colectomies (control group). DESIGN: This was a retrospective review of the Nationwide Inpatient Sample (2008-2011) of all patients undergoing elective right, left, sigmoid, total, or transverse colectomy as identified by International Classification of Diseases, Ninth Revision, Clinical Modification procedure codes. Risk-adjusted 30-day outcomes were assessed using regression modeling accounting for patient characteristics, comorbidities, and surgical procedures. SETTINGS: The study included a national sample from a population database. PATIENTS: There were 45,771 admissions: 2946 in the study group, 36,949 in the control group, and 5876 in the open comparative group. MAIN OUTCOME MEASURES: Mortality was the primary outcome. Secondary outcomes included in-hospital complications, length of stay, and hospital charges. RESULTS: The patients were predominantly white (73%), had private insurance (64%), and underwent surgery at urban centers (92%). Mortality was similar between the study and control groups (0.42% vs 0.51%; p = 0.52), with a higher complication rate in the study group (19% vs 14%; p < 0.01). The study group was also associated with a lower mortality rate compared with the open group (0.51% vs 2.20%; p < 0.01), which remained consistent after adjusting for covariates (OR, 0.38 [95% CI, 0.20-0.71]; p < 0.01). The study group had fewer complications overall compared with the open group (19% vs 27%; p < 0.01) and a shorter median length of stay (4.6 vs 6.3 days; p < 0.01). LIMITATIONS: This was a retrospective study using an administrative database. CONCLUSIONS: A laparoscopic approach for total abdominal and transverse colectomies has similar mortality rates and slightly higher complications than the more established laparoscopic colectomy procedures and improved perioperative outcomes when compared with an open technique (see Video, Supplemental Digital Content 1, http://links.lww.com/DCR/A178).
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Colectomia/métodos , Laparoscopia/métodos , Tempo de Internação/estatística & dados numéricos , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Idoso , Colectomia/efeitos adversos , Colectomia/mortalidade , Feminino , Humanos , Laparoscopia/efeitos adversos , Laparoscopia/mortalidade , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Pontuação de Propensão , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: Although minimally invasive colorectal surgery increases widely, outcomes following its use in complex operations such as the abdominoperineal resection (APR) remain indeterminate. METHODS: A review of the Nationwide Inpatient Sample (2008 to 2011) of all patients undergoing elective laparoscopic or open APR was conducted. Risk-adjusted 30-day outcomes were assessed using regression modeling accounting for patient characteristics, comorbidities, and surgical procedure. RESULTS: We identified 3,191 admissions meeting inclusion criteria (1,019 laparoscopic; 2,172 open). The conversion rate was 5%. Mortality was low and similar between groups (.88% vs .83%, P = .91). In-hospital complication rates were lower in the laparoscopic group (19% vs 29%, odds ratio .59, 95% confidence interval .49 to .71, P < .01), but conversion was associated with a higher rate (29% vs 18%, P < .01). Finally, a laparoscopic APR was associated with a shorter length of stay (5.3 vs 7.0 days, P < .01). CONCLUSION: Laparoscopic APR is associated with improved outcomes and may be the preferred approach by surgeons with appropriate skills and experience.
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Abdome/cirurgia , Cirurgia Colorretal/métodos , Procedimentos Cirúrgicos Eletivos/métodos , Laparoscopia/estatística & dados numéricos , Laparotomia/estatística & dados numéricos , Períneo/cirurgia , Vigilância da População , Adolescente , Adulto , Idoso , Feminino , Havaí/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Morbidade/tendências , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Adulto JovemRESUMO
Colorectal cancer (CRC) is an increasing burden on our society. Identifying those who are at the greatest risk and improving triage for treatment will have the greatest impact on healthcare. CRC is a prime paradigm for cancer genetics: the majority of disease results from stages of progression lending itself to prevention by early detection of the pre-disease (neoplastic) state. Approximately 10% represent well defined hereditary cancer syndromes. Hereditary CRC has the added benefit that many are slow growing and family members are armed with the knowledge of potential risk of associated carcinomas and empowerment to reduce the disease burden. This knowledge provides the indication for early endoscopic and/or surgical intervention for prevention or treatment of an entire family cohort. The molecular basis of CRC allows enhanced characterization of carcinomas, leading to targeted therapies.
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The genetic understanding of colorectal cancer (CRC) continues to grow, and it is now estimated that 10% of the population has a known hereditary CRC syndrome. This article will examine the evolving surgical and medical management of hereditary CRC syndromes, and the impact of tumor genetics on therapy. This review will focus on the most common hereditary CRC-prone diseases seen in clinical practice, which include Lynch syndrome (LS), familial adenomatous polyposis (FAP) & attenuated FAP (AFAP), MutYH-associated polyposis (MAP), and serrated polyposis syndrome (SPS). Each section will review the current recommendations in the evaluation and treatment of these syndromes, as well as review surgical management and operative planning. A highly detailed multigeneration cancer family history with verified genealogy and pathology documentation whenever possible, coupled with germline mutation testing when indicated, is critically important to management decisions. Although caring for patients with these syndromes remains complex, the application of this knowledge facilitates better treatment of both individuals and their affected family members for generations to come.
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Introduction. The objective of this case report is to discuss an unclassified germline variant of the adenomatous polyposis coli (APC) gene identified in an older patient with attenuated familial adenomatous polyposis syndrome (AFAP). Methods. We present a case report of a 66-year-old man diagnosed with AFAP. Colonoscopy found multiple polyps and invasive adenocarcinoma arising in the transverse colon. Samples were tested for mutations in the APC gene. Results. DNA sequencing of germline DNA identified a cytosine (C) to thymine (T) transition at nucleotide 1240, heterozygous. The C to T transition at codon 414 is predicted to convert an arginine residue to a cysteine that is possibly pathogenic. Analysis of the patient's colon tumor DNA indicated that the tumor had lost the mutant variant allele and retained only the normal allele, suggesting that the variant may not be significant. Conclusions. The p.R414C variant has been described previously as a germline mutation of probable pathogenicity. This substitution should be considered an unclassified variant and possibly not pathogenic. These findings support the need for further genetic testing of tissue, as well as for developing a mechanism for testing all variants, as this could significantly impact the lives of patients and their family members.