ABSTRACT
Mucinous cystic neoplasms (MCNs) are rare tumors primarily observed in the pancreas but occasionally found in other locations such as the retroperitoneum, ovary, liver, and spleen. These neoplasms are histologically classified based on the degree of dysplasia, with some associated with invasive carcinoma. Colorectal surgeons infrequently encounter MCNs. Mesenteric MCNs pose a diagnostic challenge secondary to their atypical location, subtle histology, and lack of specific biochemical markers. In this context, we present a case involving a 68-year-old female who initially presented with an assumed ovarian mass. Subsequent exploration revealed a 12 cm MCN situated in the sigmoid mesentery, a location seldom associated with these tumors. The patient underwent laparotomy with successful resection and recovery. Histopathological analysis confirmed the neoplasm's mucinous epithelium with a complex papillary architecture. Immunohistochemical staining supported the diagnosis, revealing positivity for CK7, SATB2, and CDX2.
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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 ).
Subject(s)
Genome-Wide Association Study , Pilonidal Sinus , Humans , Pilonidal Sinus/genetics , Male , Female , Adult , Hair , Genetic Predisposition to Disease , United Kingdom/epidemiology , Polymorphism, Single Nucleotide , Phenotype , Risk Factors , Middle AgedABSTRACT
BACKGROUND: This systematic review aims to identify genetic and biologic markers associated with abdominal hernia formation. METHODS: Following PRIMSA-guidelines, we searched PubMed, MEDLINE, Embase, Scopus, and COCHRANE databases. RESULTS: Of 5946 studies, 65 were selected, excluding parastomal hernias due to insufficient data. For inguinal hernias, five studies unveiled 92 susceptible loci across 66 genes, predominantly linked to immune responses. Eleven studies observed elevated MMP-2 levels, with seven highlighting greater MMP-2 in direct compared to indirect inguinal hernias. One incisional hernia study identified unique gene-expression profiles in 174 genes associated with inflammation and cell-adhesion. In hiatal hernias, several genetic risk loci were identified. For all hernia categories, type I/III collagen ratios diminished. CONCLUSIONS: Biological markers in inguinal hernias appears consistent. Yet, the genetic predisposition in incisional hernias remains elusive. Further research to elucidate these genetic and biological intricacies can pave the way for more individualized patient care.
Subject(s)
Genetic Predisposition to Disease , Humans , Risk Factors , Hernia, Inguinal/genetics , Incisional Hernia/genetics , Incisional Hernia/epidemiology , Hernia, Hiatal/genetics , Hernia, Hiatal/complications , Hernia, Abdominal/genetics , Hernia, Abdominal/epidemiology , BiomarkersABSTRACT
INTRODUCTION: Interventional radiologic, endoscopic, and surgical approaches are commonly utilized to establish durable enteral access in adult patients. The purpose of this study is to examine differences in nutritional outcomes in a large cohort of patients undergoing enteral access creation. METHODS: Adult patients who underwent enteral access procedures by interventional radiologists, gastroenterologists, and surgeons between 2018 and 2020 at a single institution were reviewed. Included access types were percutaneous endoscopic gastrostomy (PEG), open or laparoscopic gastrostomy, laparoscopic jejunostomy, and percutaneous gastrostomy (perc-G), percutaneous jejunostomy , or primary gastrojejunostomy. RESULTS: 912 patients undergoing enteral access cases met the criteria for inclusion. PEGs and perc-Gs were the most common procedures. PEGs had higher Charlson scores (4.5 [3.0-6.0] versus 2.0 [1.0-2.0], P = 0.007) and lower starting albumin (3.0 [2.6-3.4] versus 3.6 [3.5-3.8] g/dL, P < 0.0001). Time to goal feeds (4 [2-6] vs 4 [3-5] d, P = 0.970), delta prealbumin (3.6 [0-6.5] versus 6.2 [2.3-10] mg/L, P = 0.145), time to access removal (160 [60-220] versus 180 [90-300] d, P = 0.998), and enteral access-related complications (19% versus 16%, P = 0.21) between PEG and perc-G were similar and differences were not statistically significant. A greater percent change in prealbumin was noted for perc-G (10 [-3-20] versus 41.7% [11-65], P = 0.002). CONCLUSIONS: Despite having higher Charlson scores and worse preoperative nutrition, there is a similar incidence of enteral access-related complications, time to goal feeds, delta prealbumin, or time to access removal between PEG and perc-G patients. Our data suggest that access approach should be made on an individual basis, accounting for anatomy and technical feasibility.
Subject(s)
Enteral Nutrition , Laparoscopy , Adult , Humans , Enteral Nutrition/methods , Prealbumin , Gastrostomy/adverse effects , Gastrostomy/methods , Intubation, Gastrointestinal/methods , Jejunostomy/adverse effects , Jejunostomy/methodsABSTRACT
Eosinophilic myenteric ganglionitis (EMG) is a rare pathologic finding within the Auerbach myenteric plexus characterized by eosinophilic infiltration on light microscopy. The plexus's ultimate obliteration results in chronic intestinal pseudo-obstruction (CIPO). EMG is almost exclusively seen in the pediatric population. The diagnosis of EMG is made through full-thickness rectal biopsy and EMG is not detectable through routine screening measures such as imaging or colonoscopy. The current treatment modality for this disorder is not standardized, and has often been treated with systemic steroids given its eosinophilic involvement. This case presents a 73-year-old male with chronic constipation presenting with new obstipation in the setting of recent orthopedic intervention requiring outpatient opioids. Admission radiographs were consistent with sigmoid volvulus. Following endoscopic detorsion, exploratory laparotomy revealed diffuse colonic dilation and distal ischemia requiring a Hartmann's procedure. Surgical pathology revealed EMG, increasing the complexity of subsequent surgical decision-making after his urgent operation.
Subject(s)
Intestinal Pseudo-Obstruction , Intestinal Volvulus , Sigmoid Diseases , Male , Humans , Child , Aged , Intestinal Volvulus/complications , Intestinal Volvulus/diagnosis , Intestinal Volvulus/surgery , Colon , Intestinal Pseudo-Obstruction/pathology , Intestinal Pseudo-Obstruction/surgery , Myenteric Plexus/pathology , Colonoscopy , Sigmoid Diseases/complications , Sigmoid Diseases/diagnosisABSTRACT
The role of the microbiome in influencing the development and course of human disease is increasingly understood and appreciated. In diverticular disease, the microbiome presents an intriguing potential link between the disease and its long-established risk factors, dietary fiber and industrialization. However, current data have yet to demonstrate a clear link between specific alterations in the microbiome and diverticular disease. The largest study of diverticulosis is negative and studies of diverticulitis are small and heterogeneous. Although multiple disease-specific hurdles exist, the early state of the current research and the many un- or underexplored clinical phenotypes present a significant opportunity for investigators to improve our knowledge of this common and incompletely understood disease.
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Human genome-wide association studies found single-nucleotide polymorphisms (SNPs) near LYPLAL1 (Lysophospholipase-like protein 1) that have sex-specific effects on fat distribution and metabolic traits. To determine whether altering LYPLAL1 affects obesity and metabolic disease, we created and characterized a mouse knockout (KO) of Lyplal1. We fed the experimental group of mice a high-fat, high-sucrose (HFHS) diet for 23 weeks, and the controls were fed regular chow diet. Here, we show that CRISPR-Cas9 whole-body Lyplal1 KO mice fed an HFHS diet showed sex-specific differences in weight gain and fat accumulation as compared to chow diet. Female, not male, KO mice weighed less than WT mice, had reduced body fat percentage, had white fat mass, and had adipocyte diameter not accounted for by changes in the metabolic rate. Female, but not male, KO mice had increased serum triglycerides, decreased aspartate, and decreased alanine aminotransferase. Lyplal1 KO mice of both sexes have reduced liver triglycerides and steatosis. These diet-specific effects resemble the effects of SNPs near LYPLAL1 in humans, suggesting that LYPLAL1 has an evolutionary conserved sex-specific effect on adiposity. This murine model can be used to study this novel gene-by-sex-by-diet interaction to elucidate the metabolic effects of LYPLAL1 on human obesity.
Subject(s)
Genome-Wide Association Study , Lysophospholipase , Obesity , Animals , Female , Humans , Male , Mice , Diet, High-Fat/adverse effects , Mice, Inbred C57BL , Mice, Knockout , Obesity/genetics , Obesity/metabolism , Triglycerides , Lysophospholipase/geneticsABSTRACT
BACKGROUND: Preoperative staging of clinical stage I rectal cancer can fail to diagnose T3 or nodal disease. Adjuvant treatment of these upstaged patients remains controversial. OBJECTIVE: The objective was to identify predictors of clinical stage I rectal cancer upstaging and quantify rates of local and systemic recurrence. DESIGN: This was a retrospective cohort study. SETTINGS: The study was conducted using data from the United States Rectal Cancer Consortium, a registry of 1881 rectal cancer resections performed at 6 academic medical centers. PATIENTS: There were a total of 94 clinical stage I rectal cancer patients who underwent proctectomy without preoperative therapy. MAIN OUTCOME MEASURES: The primary measures were incidence of pathologic upstaging, recurrence (local and systemic), and overall survival. RESULTS: Among 94 clinical stage I patients who underwent proctectomy without preoperative therapy, 23 (24.5%) were upstaged by surgical pathology. There were 6 pT3N0 patients, 8 pT1-2N+ patients, and 9 pT3N+ patients. There were no significant differences in demographic or clinical characteristics between upstaged and nonupstaged patients. Of the 6 patients who were upstaged to T3N0 disease, none received adjuvant therapy and none developed recurrence. Of the 17 patients who were upstaged to N+ disease, 14 (82%) received adjuvant chemotherapy and 6 (35%) received adjuvant chemoradiation. None developed a local recurrence, but 4 (24%) developed systemic recurrence, and 2 (12%) died of disease over a mean of 36 months of follow-up. Among the 9 pT3N+ patients, the systemic recurrence rate was 33%, despite 8 of 9 patients receiving adjuvant fluorouracil, leucovorin, and oxaliplatin. LIMITATIONS: Small sample size hinders the ability to draw significant conclusions. CONCLUSIONS: One in 4 patients with stage I rectal cancer had unrecognized T3 or nodal disease found on operative pathology. Occult nodal disease was associated with worse outcomes, despite receiving adjuvant therapy. Systemic recurrence was more common than local recurrence. See Video Abstract at http://links.lww.com/DCR/B885 . MANEJO Y RESULTADOS DEL AUMENTO DEL ESTADIO PATOLGICO DE LOS CNCERES DE RECTO EN ESTADIO CLNICO I UN ANLISIS EXPLORATORIO: ANTECEDENTES:El estadiaje pre-operatorio del cáncer de recto en fase clínica I puede ser erróneo en el diagnóstico T3 o en la diseminación ganglionar. El tratamiento adyuvante de estos pacientes sobre-estadificados ââsigue siendo controvertido.OBJETIVO:El identificar los factores predictivos en fase clínica I del cáncer de recto y cuantificar las tasas de recurrencia local y sistémica.DISEÑO:Estudio de cohortes retrospectivo.AJUSTE:El estudio se realizó utilizando los datos del Consorcio del Cáncer de Recto de los Estados Unidos, con un registro de 1.881 resecciones oncológicas rectales realizadas en seis centros médicos académicos.PACIENTES:Un total de 94 pacientes con cáncer de recto en fase clínica I fueron sometidos a proctectomía sin terapia preoperatoria.PRINCIPALES MEDIDAS DE RESULTADO:Las medidas primarias fueron la incidencia del sobre-estadiaje histopatológico, la recurrencia (local y sistémica) y la sobrevida general.RESULTADOS:De 94 pacientes en fase clínica I que se sometieron a una proctectomía sin terapia preoperatoria, 23 (24,5%) fueron sobre-estadiados ââpor la histopatología quirúrgica. Hubieron 6 pacientes pT3N0, 8 pT1-2N + y 9 pT3N +. No hubo diferencias significativas en las características demográficas o clínicas entre los pacientes sobre-estadiados âây los no sobre-estadiados. De los 6 pacientes que fueron sobre-estadiados en la enfermedad T3N0, ninguno de ellos recibió terapia adyuvante y ninguno recidivó. De los 17 pacientes que fueron sobre-estadiados a la enfermedad N +, 14 (82%) recibieron quimioterapia adyuvante y 6 (35%) recibieron quimio-radioterapia adyuvante. Ninguno desarrolló recidiva local, pero 4 (24%) desarrollaron recidiva sistémica y 2 (12%) murieron a causa de la enfermedad durante el seguimiento medio de 36 meses. Entre los 9 pacientes con pT3N +, la tasa de recidiva sistémica fue del 33%, a pesar de que 8 de 9 pacientes recibieron fluorouracilo, leucovorina y oxaliplatino como quimio-adyuvantes.LIMITACIONES:El tamaño pequeño de la muestra dificulta la capacidad de obtener conclusiones significativas.CONCLUSIONES:Uno de cada cuatro pacientes con cáncer de recto en estadío I presentaba enfermedad ganglionar o T3 no descrita en la histopatología operatoria. La enfermedad ganglionar oculta se asoció con peores resultados, a pesar de recibir terapia adyuvante. La recidiva sistémica fue más común que la recidiva local. Consulte Video Resumen en http://links.lww.com/DCR/B885 . (Traducción-Dr. Xavier Delgadillo ).
Subject(s)
Proctectomy , Rectal Neoplasms , Humans , Retrospective Studies , Neoplasm Staging , Rectal Neoplasms/surgery , Registries , Adjuvants, ImmunologicABSTRACT
BACKGROUND: Parastomal hernias are common and negatively affect patient's lives. We hypothesized that physical activity (or lack thereof) might be associated with the presence of parastomal hernia. If so, this might be an actionable target for prevention. OBJECTIVE: The objective was to determine rates of and risk factors for parastomal hernias in patients with a permanent ostomy. DESIGN: This was a retrospective cohort and survey study. Postal survey included questions about parastomal hernia, symptoms, lifestyle, and validated instruments to measure stoma quality of life and physical activity. Medical record abstraction was conducted for clinical comorbidities. SETTINGS: This study was conducted in a single large academic medical center. PATIENTS: Patients who underwent operations that included a permanent urostomy, colostomy, and/or ileostomy between 2014 and 2018 were included. MAIN OUTCOME MEASURES: Parastomal hernia (self-reported) and physical activity, measured in total metabolic equivalent-minutes/week, were our main outcome measures. RESULTS: A total of 443 of 724 patients responded (response rate, 61.2%). Two hundred twelve patients (47.9%) had urostomies, 160 (36.1%) had colostomies, and 99 (22.3%) had ileostomies. One hundred twenty-eight patients (29.7%) had a parastomal hernia, with rates of 27.1% for urostomy, 40.0% for colostomy, and 23.7% for ileostomy. There was a statistically significant association between less exercise and higher incidence of parastomal hernia (median, 579 metabolic equivalent-minutes/week for those with parastomal hernias vs 1689 metabolic equivalent-minutes/week for those without; p = 0.001). LIMITATIONS: The association between physical activity and parastomal hernia may be confounded by obesity or the possibility that patients with parastomal hernia may be limited physically by their hernia. CONCLUSIONS: Parastomal hernia rates remain high in modern surgical practice. This study shows an association between patients' physical activity and the presence of a parastomal hernia, with a higher rate among patients who exercise less. See Video Abstract at http://links.lww.com/DCR/B910 . TASAS DE HERNIA PARAESTOMAL Y EJERCICIO DESPUS DE LA CIRUGA DE OSTOMA: ANTECEDENTES:Las hernias paraostomales son complicaciones comunes después de la cirugía de ostomía y afectan la calidad de vida de los pacientes. Nuestra hipótesis es que la actividad física de los pacientes (o la falta de ella) podría estar asociada con la presencia de hernia paraostomal. Si es así, este podría ser un objetivo utilizable para la prevención.OBJETIVO:Determinar las tasas y los factores de riesgo de las hernias paraostomales en pacientes que se sometieron a una cirugía que resultó en una ostomía permanente.DISEÑO:Estudio retrospectivo de cohorte y encuesta. La encuesta postal incluyó preguntas sobre hernia paraostomal, síntomas, estilo de vida e instrumentos validados para medir la calidad de vida del paciente ostomizado y la actividad física. Se realizó la confección de gráficos para las comorbilidades clínicas.ESCENARIO:Centro médico académico de gran tamañoPACIENTES:Pacientes que se sometieron a operaciones que incluyeron una urostomía permanente, colostomía y/o ileostomía entre 2014 y 2018.PRINCIPALES MEDIDAS DE RESULTADO:La hernia paraostomal (autoinformada) y la actividad física, medidas en equivalente metabólico de actividad total-minutos/semana, fueron nuestras principales medidas de resultado. También se evaluó la calidad de vida.RESULTADOS:Un total de 443 de 724 pacientes respondieron a la encuesta (tasa de respuesta 61,2%). 212 pacientes (47,9%) tenían urostomías, 160 (36,1%) colostomías y 99 (22,3%) ileostomías. 128 pacientes (29,7%) tenían hernia paraostomal, con tasas de 27,1% para urostomía, 40,0% para colostomía y 23,7% para ileostomía. Hubo una asociación estadísticamente significativa entre menos ejercicio y una mayor incidencia de hernia paraostomal (mediana: 579 equivalentes metabólicos - minutos/semana para aquellos con hernias paraostomales versus 1689 para aquellos sin hernias; p = 0,001).LIMITACIONES:La asociación entre la actividad física y la hernia paraostomal puede confundirse con la obesidad o con el hecho de que los pacientes con hernia paraostomal pueden tener menos actividad física debido a su hernia.CONCLUSIONES:Las tasas de hernia paraostomal siguen siendo altas en la práctica quirúrgica moderna y las hernias se asocian con una peor calidad de vida. Este estudio muestra una asociación entre la actividad física de los pacientes y la presencia de una hernia paraostomal, con una tasa más alta entre los pacientes que hacen menos ejercicio. Consulte Video Resumen en http://links.lww.com/DCR/B910 . (Traducción-Dr. Felipe Bellolio ).
Subject(s)
Hernia, Ventral , Incisional Hernia , Ostomy , Humans , Retrospective Studies , Quality of Life , Hernia, Ventral/diagnosis , Hernia, Ventral/etiology , Hernia, Ventral/surgery , Ostomy/adverse effects , Incisional Hernia/etiologyABSTRACT
BACKGROUND: Neoadjuvant chemoradiation therapy (NCRT, 5-fluorouracil and radiation) followed by resection and adjuvant chemotherapy (AC) is one of the standard treatment paradigms for locally advanced rectal adenocarcinoma. However, the utility of AC in patients with pathologic lymph node (pLN)-negative disease is unclear. Our aim is to assess the value of AC stratified by pLN status. METHODS: The US Rectal Cancer Consortium database (2007-2017) was retrospectively reviewed for patients with clinical stage II and III rectal adenocarcinoma who received neoadjuvant chemoradiation (NACR) and curative-intent resection. Those who received neoadjuvant systemic chemotherapy or underwent local resection were excluded. Patients were categorized by pLN status. Primary outcome was overall survival (OS). RESULTS: Of 213 patients, 70% had pLN-negative disease and 30% pLN-positive disease. Median age was 57 years, 65% were male, and median follow-up was 31 months. Among patients with pLN-negative disease, 74% received AC. Receipt of AC was not associated with improved 5-year OS (82% versus 74%, respectively; p = 0.16). This finding persisted on multivariable analysis. Of patients with pLN-positive disease, 83% received AC. Patients with pLN-positive disease demonstrated improved 5-year OS with receipt of AC (72% compared with 0% with no adjuvant chemotherapy, p = 0.04). CONCLUSION: After receiving neoadjuvant chemoradiation, adjuvant chemotherapy for patients with pLN-negative disease does not appear to be associated with improved survival. Further validation and prospective studies are needed to evaluate the utility of adjuvant chemotherapy in this setting.
Subject(s)
Neoadjuvant Therapy , Rectal Neoplasms , Humans , Male , Middle Aged , Female , Retrospective Studies , Rectal Neoplasms/therapyABSTRACT
OBJECTIVE: To derive and validate a polygenic risk score (PRS) to predict the occurrence and severity of diverticulitis and to understand the potential for incorporation of a PRS in current decision-making. BACKGROUND: PRS quantifies genetic variation into a continuous measure of risk. There is a need for improved risk stratification to guide surgical decision-making that could be fulfilled by PRS. It is unknown how surgeons might integrate PRS in decision-making. METHODS: We derived a PRS with 44 single-nucleotide polymorphisms associated with diverticular disease in the UK Biobank and validated this score in the Michigan Genomics Initiative (MGI). We performed a discrete choice experiment of practicing colorectal surgeons. Surgeons rated the influence of clinical factors and a hypothetical polygenic risk prediction tool. RESULTS: Among 2812 MGI participants with diverticular disease, 1964 were asymptomatic, 574 had mild disease, and 274 had severe disease. PRS was associated with occurrence and severity. Patients in the highest PRS decile were more likely to have diverticulitis [odds ratio (OR)=1.84; 95% confidence interval (CI), 1.42-2.38)] and more likely to have severe diverticulitis (OR=1.61; 95% CI, 1.04-2.51) than the bottom 50%. Among 213 surveyed surgeons, extreme disease-specific factors had the largest utility (3 episodes in the last year, +74.4; percutaneous drain, + 69.4). Factors with strongest influence against surgery included 1 lifetime episode (-63.3), outpatient management (-54.9), and patient preference (-39.6). PRS was predicted to have high utility (+71). CONCLUSIONS: A PRS derived from a large national biobank was externally validated, and found to be associated with the incidence and severity of diverticulitis. Surgeons have clear guidance at clinical extremes, but demonstrate equipoise in intermediate scenarios. Surgeons are receptive to PRS, which may be most useful in marginal clinical situations. Given the current lack of accurate prognostication in recurrent diverticulitis, PRS may provide a novel approach for improving patient counseling and decision-making.
Subject(s)
Diverticulitis , Humans , Risk Factors , Michigan/epidemiology , Genome-Wide Association Study , Genetic Predisposition to DiseaseABSTRACT
INTRODUCTION: Management of retroperitoneal and lateral pelvic lymph nodes (RLPN) in rectal cancer remains unclear. With total neoadjuvant therapy (TNT), more patients have radiologic complete clinical response (rCR). We sought to evaluate the impact of radiographic persistent RLPN after neoadjuvant therapy on survival. MATERIALS AND METHODS: Patients with rectal adenocarcinoma with isolated RLPN metastasis, who received neoadjuvant therapy before surgery were included from the United States Rectal Cancer Consortium database. Primary outcomes were recurrence-free survival (RFS) and overall survival (OS). RESULTS: Of 77 patients, all received neoadjuvant therapy, with 35 (46%) receiving TNT. Posttreatment, 33 (43%) had rCR while 44 (57%) had radiographic persistent RLPN. Median number of radiographic positive RLPN was 1 (IQR 1-2). Receipt of TNT was associated with radiographic RLPN rCR (OR 4.77, 95% CI 1.81-12.60, p < .01). However, there was no difference in RFS and OS between patients who achieved rCR or with persistent RLPN (all p > .05). CONCLUSIONS: Radiographic persistence of RLPN was not associated with worse survival in well-selected patients and may not be a reliable indicator of pathological response. TNT may be the preferred management strategy to select patients given its association with rCR. Radiographic persistence of RLPN after preoperative therapy should not necessarily preclude surgery.
Subject(s)
Adenocarcinoma/pathology , Lymph Nodes/pathology , Neoadjuvant Therapy/mortality , Neoplasm Recurrence, Local/pathology , Pelvis/pathology , Rectal Neoplasms/pathology , Retroperitoneal Space/pathology , Adenocarcinoma/diagnostic imaging , Adenocarcinoma/therapy , Female , Follow-Up Studies , Humans , Lymph Nodes/diagnostic imaging , Male , Middle Aged , Neoplasm Recurrence, Local/diagnostic imaging , Neoplasm Recurrence, Local/therapy , Pelvis/diagnostic imaging , Prognosis , Rectal Neoplasms/diagnostic imaging , Rectal Neoplasms/therapy , Retroperitoneal Space/diagnostic imaging , Retrospective Studies , Survival Rate , Tomography, X-Ray Computed , United StatesABSTRACT
BACKGROUND: To focus on critical care needs of coronavirus patients, elective operations were postponed and selectively rescheduled. The effect of these measures on patients was unknown. We sought to understand patients' perspectives regarding surgical care during the CoVID-19 pandemic to improve future responses. METHODS: We performed qualitative interviews with patients whose operations were postponed. Interviews explored patient responses to: 1) surgery postponement; 2) experience of surgery; 3) impacts of rescheduling/postponement on emotional/physical health; 4) identifying areas of improvement. Interviews were recorded, transcribed, coded, and analyzed through an integrated approach. RESULTS: Patient perspectives fell within the following domains: 1) reactions to surgery postponement/rescheduling; 2) experience of surgery during CoVID-19 pandemic; 3) reflections on communication; 4) patient trust in surgeons and healthcare. CONCLUSIONS: We found no patient-reported barriers to rescheduling surgery. Several areas of care which could be improved (communication). There was an unexpected sense of trust in surgeons and the hospital.
Subject(s)
Appointments and Schedules , COVID-19/prevention & control , Colorectal Surgery/organization & administration , Health Services Accessibility/organization & administration , Patient Satisfaction , Adult , Aged , COVID-19/epidemiology , Colorectal Surgery/standards , Communicable Disease Control/standards , Communication , Digestive System Surgical Procedures , Elective Surgical Procedures , Female , Health Services Accessibility/standards , Humans , Male , Middle Aged , Pandemics/prevention & control , Qualitative Research , Trust , Young AdultABSTRACT
Rectal prolapse frequently occurs in conjunction with functional and anatomic abnormalities of the bowel and pelvic floor. Prolapse surgery should have as its goal not only to correct the prolapse, but also to improve function to the greatest extent possible. Careful history-taking and physical exam continue to be the surgeon's best tools to put rectal prolapse in its functional context. Physiologic testing augments this and informs surgical decision-making. Defecography can identify concomitant middle compartment prolapse and pelvic floor hernias, potentially targeting patients for urogynecologic consultation or combined repair. Other tests, including manometry, ultrasound, and electrophysiologic testing, may be of utility in select cases. Here, we provide an overview of available testing options and their individual utility in rectal prolapse.
ABSTRACT
The Center for Basic and Translational Science was formed to address the unique challenges faced by surgeon-scientists. Shortly after its inception, COVID-19 upended research workflows at our institution. We discuss how the collaborative Center for Basic and Translational Science framework was adapted to support laboratories during the pandemic by assisting with ramp-down, promoting mentorship and community building, and maintaining research productivity.
Subject(s)
COVID-19/prevention & control , Intersectoral Collaboration , Research Personnel/organization & administration , Surgeons/organization & administration , Translational Research, Biomedical/organization & administration , COVID-19/epidemiology , Efficiency , Humans , Mentors , Michigan/epidemiology , PandemicsABSTRACT
BACKGROUND: Multidisciplinary cancer clinics deliver streamlined care and facilitate collaboration between specialties. We described patient volume and specialty service utilization, including surgery, of a multidisciplinary colorectal cancer clinic established at a tertiary care academic institution. METHODS: We conducted a retrospective observational cohort study of adult patients with colorectal adenocarcinoma from 2012 to 2017. We performed a descriptive analysis of patient volume, percentage of rectal cancer patients, and the number of patients who saw and received surgery, chemotherapy, and radiation each year. RESULTS: Over 5 years, 1711 patients were served at the multidisciplinary clinic. Patient volume increased 37%, from n = 228 (annualized) to n = 312. The percentage of rectal cancer patients increased from 29% in 2013 to 42% in 2017. The highest rate of utilization was for surgery; 792 (46%) patients had surgery at the multidisciplinary clinic institution, and 510 (30%) received chemotherapy there. Out of 635 rectal cancer patients, 114 (18%) received radiation there. CONCLUSIONS: Over the five-year experience of a colorectal cancer-focused multidisciplinary clinic, overall patient volume increased by 37%. Over the study period, 63% of patients seen at the multidisciplinary clinic ultimately received at least one treatment modality at the clinic institution. Overall, the clinic's establishment resulted in the increased referral of complex patients.
Subject(s)
Adenocarcinoma/therapy , Cancer Care Facilities/organization & administration , Colorectal Neoplasms/therapy , Adult , Aged , Combined Modality Therapy , Female , Humans , Male , Michigan , Middle Aged , Retrospective StudiesABSTRACT
The NCCN Guidelines for Colorectal Cancer (CRC) Screening describe various colorectal screening modalities as well as recommended screening schedules for patients at average or increased risk of developing sporadic CRC. They are intended to aid physicians with clinical decision-making regarding CRC screening for patients without defined genetic syndromes. These NCCN Guidelines Insights focus on select recent updates to the NCCN Guidelines, including a section on primary and secondary CRC prevention, and provide context for the panel's recommendations regarding the age to initiate screening in average risk individuals and follow-up for low-risk adenomas.