Clinical, Economic, and Humanistic Impact of Short-Bowel Syndrome/Chronic Intestinal Failure in Portugal (PARENTERAL Study).

Introduction: This study aimed to assess the clinical, economic, and humanistic impact of short-bowel syndrome/chronic intestinal failure (SBS/CIF) in Portugal. Methods: This is a retrospective multicenter cohort chart review study, with a cross-sectional component for quality-of-life (QoL) evaluation. Inclusion criteria comprised patients with SBS/CIF, aged ≥1 year, with stable parenteral nutrition (PN). Data collection included patient chart review over a 12-month period and patient/caregiver self-report and SF-36/PedsQL™ questionnaires. Main endpoints comprised clinical and PN characterization, healthcare resource use (HRU), direct costs, and patient QoL. Results: Thirty-one patients were included (11 adults and 20 children). Patients' mean age (standard deviation [SD]) was 57.9 (14.3) years in adults and 7.5 (5.0) years in children, with a mean time since diagnosis of 10.2 (5.9) and 6.6 (4.2) years, respectively. PN was administered for a mean of 5.2 and 6.6 days/week in adults and children, respectively; home PN occurred in 81.8% of adults and 90.0% of children for a mean of 9.6 and 10.8 months/year, respectively. The mean annual number of hospitalizations was 1.9 and 2.0 which lasted for a mean of 34.0 and 29.4 days in adults and children, respectively. Twenty-one and forty hospitalization episodes were reported in adults and children, respectively, of which 71.4% and 85.0% were due to catheter-related complications. Mean annual direct costs per patient amounted to 47,857.53 EUR in adults and 74,734.50 EUR in children, with PN and hospitalizations as the main cost-drivers. QoL assessment showed a clinically significant impaired physical component in adults and a notable deterioration in the school functioning domain in children. Conclusion: In Portugal, SBS/CIF patient management is characterized by a substantial therapeutic burden and HRU, translating into high direct costs and a substantial impairment of the adults' physical function and children's school functioning.

Introdução: Este estudo teve como objetivo avaliar o impacto clínico, económico e social da síndrome do intestino curto/falência intestinal crónica (SIC/FIC) em Portugal. Métodos: Estudo de coorte retrospectivo e multicêntrico de revisão dos processos clínicos incluindo uma componente transversal para avaliação da qualidade de vida (QV). Os critérios de elegibilidade incluíram doentes com SIC/FIC, idade ≥1 ano, em nutrição parenteral (NP) e clinicamente estáveis. A recolha de dados incluiu a revisão dos processos clínicos ao longo de um período de 12 meses e a aplicação de questionários auto-administrados a doentes e cuidadores e de questionários de QV (SF-36/PedsQL™). Os indicadores principais foram a caracterização clínica e da NP, a utilização de recursos de saúde, custos diretos e QV dos doentes. Resultados: Foram incluídos 31 doentes (11 adultos e 20 crianças). A idade média (desvio padrão: DP) foi de 57.9 (14.3) anos nos adultos e de 7.5 (5.0) nas crianças com um tempo médio desde o diagnóstico de 10.2 (5.9) e 6.6 (4.2) anos, respetivamente. A NP foi administrada durante uma média de 5.2 e 6.6 dias por semana, em adultos e crianças respetivamente, em 81.8% e 90.0% dos adultos/crianças foi feita em casa durante uma média de 9.6 ou 10.8 meses por ano, respetivamente. O número médio anual de hospitalizações foi de 1.9 (1.6) e 2.0 (1.5) com uma duração média de 34.0 (47.4) e 29.4 (32.3) dias, em adultos e crianças, respetivamente. Foram reportados 21 e 40 episódios de hospitalização em adultos/crianças, dos quais 71.4% e 85.0% foram devido a complicações relacionadas ao uso de cateter. Os custos diretos anuais médios por doente ascenderam a 47,857.53 EUR nos adultos e a 74,734.50 EUR nas crianças, sendo que os maiores responsáveis foram a NP e as hospitalizações. A avaliação da QV mostrou um comprometimento clinicamente significativo da componente física nos adultos e uma deterioração relevante da dimensão escolar nas crianças. Conclusões: A gestão dos doentes com SIC/FIC em Portugal é caracterizada por uma sobrecarga substancial a nível terapêutico e de utilização de recursos de saúde, o que se traduz em elevados custos diretos e comprometimento substancial da componente física nos adultos e do desempenho escolar nas crianças.

Development of a warning score for early detection of colorectal anastomotic leakage: Hype or hope?

BACKGROUND: Colorectal anastomotic leakage (CAL), a severe postoperative complication, is associated with high morbidity, hospital readmission, and overall healthcare costs. Early detection of CAL remains a challenge in clinical practice. However, some decision models have been developed to increase the diagnostic accuracy of this event. AIM: To develop a score based on easily accessible variables to detect CAL early. METHODS: Based on the least absolute shrinkage and selection operator method, a predictive classification system was developed [Early ColoRectAL Leakage (E-CRALL) score] from a prospective observational, single center cohort, carried out in a colorectal division from a non-academic hospital. The score performance and CAL threshold from postoperative day (POD) 3 to POD5 were estimated. Based on a precise analytical decision model, the standard clinical practice was compared with the E-CRALL adoption on POD3, POD4, or POD5. A cost-minimization analysis was conducted, on the assumption that all alternatives delivered similar health-related effects. RESULTS: In this study, 396 patients who underwent colorectal resection surgery with anastomosis, and 6.3% (n = 25) developed CAL. Most of the patients who developed CAL (n = 23; 92%) were diagnosed during the first hospital admission, with a median time of diagnosis of 9.0 ± 6.8 d. From POD3 to POD5, the area under the receiver operating characteristic curve of the E-CRALL score was 0.82, 0.84, and 0.95, respectively. On POD5, if a threshold of 8.29 was chosen, 87.4% of anastomotic failures were identified with E-CRALL adoption. Additionally, score usage could anticipate CAL diagnosis in an average of 5.2 d and 4.1 d, if used on POD3 and POD5, respectively. Regardless of score adoption, episode comprehensive costs were markedly greater (up to four times) in patients who developed CAL in comparison with patients who did not develop CAL. Nonetheless, the use of the E-CRALL warning score was associated with cost savings of €421442.20, with most (92.9%) of the savings from patients who did not develop CAL. CONCLUSION: The E-CRALL score is an accessible tool to predict CAL at an early timepoint. Additionally, E-CRALL can reduce overall healthcare costs, mainly in the reduction of hospital costs, independent of whether a patient developed CAL.

Usefulness of serum C-reactive protein and calprotectin for the early detection of colorectal anastomotic leakage: A prospective observational study.

BACKGROUND: Colorectal anastomotic leakage (CAL) is one of the most dreaded complications after colorectal surgery, with an incidence that can be as high as 27%. This event is associated with increased morbidity and mortality; therefore, its early diagnosis is crucial to reduce clinical consequences and costs. Some biomarkers have been suggested as laboratory tools for the diagnosis of CAL. AIM: To assess the usefulness of plasma C-reactive protein (CRP) and calprotectin (CLP) as early predictors of CAL. METHODS: A prospective monocentric observational study was conducted including patients who underwent colorectal resection with anastomosis, from March 2017 to August 2019. Patients were divided into three groups: G1 - no complications; G2 - complications not related to CAL; and G3 - CAL. Five biomarkers were measured and analyzed in the first 5 postoperative days (PODs), namely white blood cell (WBC) count, eosinophil cell count (ECC), CRP, CLP, and procalcitonin (PCT). Clinical criteria, such as abdominal pain and clinical condition, were also assessed. The correlation between biomarkers and CAL was evaluated. Receiver operating characteristic (ROC) curve analysis was used to compare the accuracy of these biomarkers as predictors of CAL, and the area under the ROC curve (AUROC), specificity, sensitivity, positive predictive value, and negative predictive value (NPV) during this period were estimated. RESULTS: In total, 25 of 396 patients developed CAL (6.3%), and the mean time for this diagnosis was 9.0 ± 6.8 d. Some operative characteristics, such as surgical approach, blood loss, intraoperative complications, and duration of the procedure, were notably related to the development of CAL. The length of hospital stay was markedly higher in the group that developed CAL compared with the group with complications other than CAL and the group with no complications (median of 21 d vs 13 d and 7 d respectively; P < 0.001). For abdominal pain, the best predictive performance was on POD4 and POD5, with the largest AUROC of 0.84 on POD4. Worsening of the clinical condition was associated with the diagnosis of CAL, presenting a higher predictive effect on POD5, with an AUROC of 0.9. WBC and ECC showed better predictive effects on POD5 (AUROC = 0.62 and 0.7, respectively). Those markers also presented a high NPV (94%-98%). PCT had the best predictive effect on POD5 (AUROC = 0.61), although it presented low accuracy. However, this biomarker revealed a high NPV on POD3, POD4, and POD5 (96%, 95%, and 96%, respectively). The mean CRP value on POD5 was significantly higher in the group that developed CAL compared with the group without complications (195.5 ± 139.9 mg/L vs 59.5 ± 43.4 mg/L; P < 0.00001). On POD5, CRP had a NPV of 98%. The mean CLP value on POD3 was significantly higher in G3 compared with G1 (5.26 ± 3.58 µg/mL vs 11.52 ± 6.81 µg/mL; P < 0.00005). On POD3, the combination of CLP and CRP values showed a high diagnostic accuracy (AUROC = 0.82), providing a 5.2 d reduction in the time to CAL diagnosis. CONCLUSION: CRP and CLP are moderate predictors of CAL. However, the combination of these biomarkers presents an increased diagnostic accuracy, potentially decreasing the time to CAL diagnosis.

A rare cecal subepithelial tumor in a Crohn´s Disease patient

Appendiceal tumors comprise a variety of histologic types, including appendiceal mucinous neoplasms, which can be grouped as premalignant lesions, tumors of uncertain malignant potential, and malignant lesions. The appendiceal mucinous neoplasms are characterized by mucinous epithelial proliferation with extracellular mucin and pushing tumor margins, commonly an incidental finding during operative exploration. We report the case of a low-grade appendiceal mucinous neoplasm presenting as a subepithelial lesion in Crohn´s Disease patient. The diagnosis was not straightforward, and only surgical resection allowed an accurate diagnosis. Although Inflammatory Bowel Disease is a risk factor for the development of colorectal neoplasms, the absolute risk for appendiceal tumors is uncertain. The frequency of progression to malignancy remains to be determined.

A rare cecal subepithelial tumor in a Crohn´s Disease patient.

Appendiceal tumors comprise a variety of histologic types, including appendiceal mucinous neoplasms, which can be grouped as premalignant lesions, tumors of uncertain malignant potential, and malignant lesions. The appendiceal mucinous neoplasms are characterized by mucinous epithelial proliferation with extracellular mucin and pushing tumor margins, commonly an incidental finding during operative exploration. We report the case of a low-grade appendiceal mucinous neoplasm presenting as a subepithelial lesion in Crohn´s Disease patient. The diagnosis was not straightforward, and only surgical resection allowed an accurate diagnosis. Although Inflammatory Bowel Disease is a risk factor for the development of colorectal neoplasms, the absolute risk for appendiceal tumors is uncertain. The frequency of progression to malignancy remains to be determined.

Extensive colectomy in colorectal cancer and hereditary nonpolyposis colorectal cancer - long-term results / Colectomia extensa em cancro colorretal e cancro colorretal hereditário sem polipose - resultados a longo prazo

ABSTRACT Background: Colorectal cancer survival is better in hereditary nonpolyposis colorectal cancer patients than in sporadic colorectal cancer patients and even for hereditary nonpolyposis colorectal cancer with colorectal cancer is not consensual that extensive colectomy is preferable to partial colectomy. This study analyzes and compares the long-term results of these two groups of patients submitted to curative subtotal colectomy or total colectomy. Methods: Between 2002 and 2018, 68 patients with colorectal cancer without familial adenomatous polyposis were submitted to a total or subtotal colectomy in a single tertiary center. The patients were divided in two groups: hereditary nonpolyposis colorectal cancer patients (with Amsterdam criteria) and sporadic colorectal cancer patients (the others). The presence of Amsterdam criteria for hereditary nonpolyposis colorectal cancer and germline mutation for mismatch repair genes was confirmed by clinical records. Results and survival were analyzed following surgery. Results: We obtained a sporadic colorectal cancer group with 31 patients and a hereditary nonpolyposis colorectal cancer group with 37 patients. The two groups differ in age but not in gender, tumor stage or surgical morbidity. The overall survival and disease-free survival were good in both groups but even better for hereditary nonpolyposis colorectal cancer group with statistical significance when comparing the two groups. Conclusion: Total or subtotal colectomy for colorectal cancer provides a good survival. These surgical procedures should be considered the first option for colorectal cancer in young hereditary non polyposis colorectal cancer patients. In those cases, they provide good long-term results, avoiding the risk of metachronous colorectal cancer and the surveillance is restricted only to the remaining need for rectum.

RESUMO Introdução: A sobrevivência do cancro colorretal é melhor em pacientes com cancro colorretal hereditário não associado a polipose do que em pacientes com cancro colorretal esporádico. Mesmo em casos de cancro colorretal hereditário sem polipose, a preferência pela colectomia total em relação à parcial não é consensual na literatura. Este estudo analisa e compara os resultados a longo prazo destes dois grupos de pacientes submetidos à colectomia curativa subtotal ou total. Métodos: Entre 2002 e 2018, 68 pacientes com cancro colorretal sem polipose adenomatosa familiar foram submetidos a colectomia total ou subtotal em um único centro terciário. Os pacientes foram divididos em dois grupos: aqueles com cancro colorretal hereditário sem polipose (de acordo com os critérios de Amsterdão) e os com cancro colorretal esporádico (os demais). Os critérios de Amsterdão para cancro colorretal hereditário sem polipose e a presença de mutação germinativa para os genes de reparação de ADN foram confirmados por consulta dos registros clínicos. Os resultados e a sobrevivência foram analisados após a cirurgia. Resultados: No presente estudo, 31 pacientes foram incluídos no grupo de cancro colorretal esporádico e 37 no grupo de cancro colorretal hereditário sem polipose. Diferenças significativas foram observadas em relação à idade, mas não ao gênero, estadio do tumor ou morbilidade cirúrgica. A sobrevivência global e a sobrevivência livre de doença foram boas em ambos os grupos, mas os resultados foram ainda melhores no grupo de cancro colorretal hereditário sem polipose, com significado estatístico. Conclusão: A colectomia total ou a colectomia subtotal para o cancro colorretal proporcionam uma boa sobrevivência e devem ser consideradas a primeira opção de tratamento em pacientes jovens com cancro colorretal hereditário sem polipose. Nestes pacientes, uma cirurgia cólica mais extensa permite a obtenção de bons resultados a longo prazo; reduz o risco de cancro colorretal metácrono e restringe a vigilância endoscópica ao reto remanescente.

Preoperative Enteral Nutrition and Surgical Outcomes in Adults with Crohn's Disease: A Systematic Review.

BACKGROUND AND AIM: Enteral nutrition (EN) is applicable to adult Crohn's disease (CD) in treating malnutrition and in inducing remission - here as a less effective alternative than corticosteroids. The purpose of this review is to determine whether preoperative EN impacts postoperative complications of adult CD, either by means of nutritional or therapeutic effects. SUMMARY: A systematic review of English written full-text research articles published between January 1990 and November 2017, including adult patients undergoing abdominal surgery for complicated CD after EN, was performed. Four studies out of 22 were selected, all of which institutional, retrospective, case-control cohorts, one classified as "good quality" and three as "poor quality," as rated by the Newcastle-Ottawa Scale. The application of inclusion and exclusion criteria resulted in a non-intentional absence of studies referring to supplemental EN among those reviewed. The reduced number of heterogeneous eligible studies impeded meta-analysis. In all studies, exclusive EN (EEN) was used and well tolerated, allowing to defer or even avoid surgery altogether, improving patients' global state. The two studies with the greatest number of patients found preoperative EEN to be an independent factor against infectious and non-infectious complications in 219 patients and against anastomotic leaks or abscesses in 38 patients. Also, in univariate analysis, EEN was found to increase preop-erative immunosuppressant-free intervals and to protect against anastomotic dehiscences, intra-abdominal abscesses, surgical wound infections, ileus, stomas, and reoperations in the largest study; in another study it was related to fewer intra-abdominal septic complications. KEY MESSAGES: All reviewed studies are retrospective and, consequently, of limited relevance. Nonetheless, all of them call the attention of the scientific community to the potential benefits of preoperative EEN on postoperative outcomes in adult CD, calling for prospective multi-institutional studies and randomized controlled trials.

INTRODUÇÃO E OBJETIVO: No adulto com doença de Crohn (DC) a nutrição entérica (NE) é aplicável como terapáutica da desnutrição ou como alternativa, menos eficaz, aos corticoides, para indução de remissão. O objetivo desta revisão é determinar se a NE pré-operatória tem impacto nas complicações pós-operatórias, seja pelo efeito nutricional seja pelo terapáutico. SUMÁRIO: Foi realizada uma revisão sistemática dos artigos de investigação que incluíssem doentes adultos submetidos a cirurgia abdominal por DC complicada, após NE, redigidos em inglás e publicados entre janeiro de 1990 e novembro de 2017. De 22 estudos foram selecionados quatro institucionais e retrospetivos de coorte, um de "fraca qualidade" e trás de "pobre qualidade" pela "Newcastle-Ottawa Scale". Nos estudos revistos foi utilizada NE exclusiva (NEE) já que, não intencionalmente, os estudos com NE suplementar reuniram critérios de exclusão. O pequeno número e a heterogeneidade dos estudos elegíveis impossibilitaram uma meta-análise. A NEE foi utilizada e bem tolerada em todos os estudos, e permitiu melhorar o estado global dos doentes e protelar ou mesmo evitar a cirurgia. Nos dois estudos com maior número de doentes, a NEE pré-operatória foi um fator independente contra deiscáncias de sutura e abcessos em 219 doentes, e contra complicações infeciosas intra-abdominais em 38. Em análise univariada também se verificou que, no maior estudo, a NEE aumentou o intervalo pré-operatório livre de imunossupressores e foi protetora contra deiscáncias anastomóticas, abscessos intra-abdominais, infeções da ferida operatória, ileus, estomas e reoperações; noutro estudo menores correlacionou-se com menos complicações infeciosas intra-ab abdominais. MENSAGENS-CHAVE: Todos os estudos revistos são retrospetivos e, consequentemente, de relevância limitada. No entanto, todos chamam a atenção da comunidade científica para os potenciais benefícios da NEE préoperatória nos resultados pós-operatórios dos adultos com DC e para a necessidade de estudos prospetivos multi-institucionais e de ensaios clínicos randomizados.

3D echoendoscopy and miniprobes for rectal cancer staging

Background: rectal cancer staging using rigid probes or echoendoscopes has some limitations. The aim of the study was to compare rectal cancer preoperative staging using conventional endoluminal ultrasonography with three-dimensional endoscopic ultrasonography and miniprobes. Materials and methods: sixty patients were included and evaluated with: a) a conventional echoendoscope (7.5 and 12 MHz); b) miniprobes (12 MHz); and c) the Easy 3D Freescan software for three-dimensional endoscopic ultrasonography. The reference or gold standard was conventional endoluminal ultrasonography in all cases and pathological assessment for those without preoperative therapy. The differences in T and N staging accuracy in both longitudinal and circumferential extension were evaluated. Results: with regard to T staging, conventional endoluminal ultrasonography had an accuracy of 85% (compared to pathological analysis), and the agreement between miniprobes vs conventional endoluminal ultrasonography (kappa = 0.81) and three-dimensional endoscopic ultrasonography vs conventional endoluminal ultrasonography (k = 0.87) was significant. In addition, miniprobes had an accuracy of 82% and three-dimensional endoscopic ultrasonography had a higher accuracy (96%). With regard to N staging, conventional endoluminal ultrasonography had an accuracy of 91% with a sensitivity of 78%. However, the agreement between miniprobes and conventional endoluminal ultrasonography and three-dimensional endoscopic ultrasonography and conventional endoluminal ultrasonography (k = 0.70) was lower. Interestingly, miniprobes had a lower accuracy of 81% whereas three-dimensional endoscopic ultrasonography had an accuracy of 100% without any false negative. No false positives were observed in any of the techniques. Accuracy for T and N staging was not influenced by longitudinal or circumferential extensions of the tumor in all types of endoscopic ultrasonography analyzed. Conclusions: miniprobes and especially three-dimensional endoscopic ultrasonography may be relevant during rectal cancer staging

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Functional outcomes in patients submitted to restorative proctocolectomy with ileal pouch anal anastomosis in a single tertiary center / Resultados funcionais em pacientes submetidos a proctocolectomia restauradora com anastomose íleoanal e bolsa ileal em um centro terciário

ABSTRACT Background: Functional results after restorative proctocolectomy for ulcerative colitis and familial adenomatous polyposis are variable. We assessed functional results in patients with ileal pouch anal anastomosis and evaluated potential factors associated with poor functional results. Methods: Retrospective cohort study of 38 patients who were submitted to a restorative proctocolectomy with ileal pouch anal anastomosis, in the context of ulcerative colitis and familial adenomatous polyposis, in at tertiary referral center, in the period between 1993 and 2013. Clinical records were analyzed and telephone interviews with protocoled questionnaire to 32 patients (12 ulcerative colitis, 20 familial adenomatous polyposis) were performed. Pouch functional results were also evaluated based in the Oresland score. The functional results were analyzed at four points of the patient outcome. Results: In 25 patients were performed restorative proctocolectomy with ileal pouch anal anastomosis and in 7 patients total colectomy preceded protectomy with ileal pouch anal anastomosis. Protective ileostomy was performed in all patients. There was no mortality and post-operative complications related with the pouch was 12.5% but treated conservatively. The mean follow-up was 13.2 years. Pouch failure occurs in 9.4% (2 in familial adenomatous polyposis and 1 in ulcerative colitis). Familial adenomatous polyposis patients achieved the best outcome but the outcome was acceptable in both groups. The median Oresland score was good with small variations over the years, although the best score being reached at 5 years after the surgery. Conclusions: The long-term results in patients undergoing restorative proctocolectomy with ileal pouch anal anastomosis were good in both groups, although better in familial adenomatous polyposis. In both, the best score of functional results seems to be reached at 5 years after surgery.

RESUMO Introdução: Os resultados funcionais após proctocolectomia restauradora em casos de colite ulcerativa e polipose adenomatosa familiar são variáveis. Avaliamos os resultados funcionais em pacientes com anastomose ileoanal e bolsa ileal bem como os fatores potenciais associados a resultados funcionais fracos. Métodos: Estudo retrospectivo de coorte com 38 pacientes submetidos a proctocolectomia restauradora com anastomose ileoanal e bolsa ileal, no contexto de colite ulcerativa e polipose adenomatosa familiar, em um centro de referência terciário, no período entre 1993 e 2013. Analisamos os registos clínicos e realizamos entrevistas telefónicas com um questionário protocolado a 32 pacientes (12 colite ulcerativa, 20 polipose adenomatosa familiar). Também foram avaliados os resultados funcionais da bolsa, com base no escore de Oresland. Os resultados funcionais foram analisados em quatro pontos do desfecho de cada paciente. Resultados: Em 25 pacientes foi realizada proctocolectomia restauradora com anastomose ileoanal e bolsa ileal, e em 7 pacientes uma colectomia total precedeu a protectomia com anastomose ileoanal e bolsa ileal. Todos os pacientes foram submetidos a uma ileostomia protetora. Não ocorreram óbitos e as complicações pós-operatórias relacionadas com a bolsa chegaram a 12,5%, mas foram tratadas conservadoramente. O seguimento médio foi de 13,2 anos. Ocorreu defeito na bolsa em 9,4% (2 em polipose adenomatosa familiar e 1 em colite ulcerativa). Os pacientes com polipose adenomatosa familiar obtiveram o melhor resultado; contudo, em ambos os grupos o resultado foi considerado aceitável. A mediana do score de Oresland foi boa, tendo sido observadas pequenas variações ao longo dos anos, embora o melhor score tenha sido verificado 5 anos após a cirurgia. Conclusões: A longo prazo, os resultados para os pacientes submetidos a proctocolectomia restauradora com anastomose ileoanal e bolsa ileal foram bons em ambos os grupos, embora tenham sido considerados melhores nos pacientes com polipose adenomatosa familiar. Nos dois grupos, o melhor escore de resultados funcionais parece ser alcançado por volta dos 5 anos após a cirurgia.

3D echoendoscopy and miniprobes for rectal cancer staging.

BACKGROUND: rectal cancer staging using rigid probes or echoendoscopes has some limitations. The aim of the study was to compare rectal cancer preoperative staging using conventional endoluminal ultrasonography with three-dimensional endoscopic ultrasonography and miniprobes. MATERIALS AND METHODS: sixty patients were included and evaluated with: a) a conventional echoendoscope (7.5 and 12 MHz); b) miniprobes (12 MHz); and c) the Easy 3D Freescan software for three-dimensional endoscopic ultrasonography. The reference or gold standard was conventional endoluminal ultrasonography in all cases and pathological assessment for those without preoperative therapy. The differences in T and N staging accuracy in both longitudinal and circumferential extension were evaluated. RESULTS: with regard to T staging, conventional endoluminal ultrasonography had an accuracy of 85% (compared to pathological analysis), and the agreement between miniprobes vs conventional endoluminal ultrasonography (kappa = 0.81) and three-dimensional endoscopic ultrasonography vs conventional endoluminal ultrasonography (k = 0.87) was significant. In addition, miniprobes had an accuracy of 82% and three-dimensional endoscopic ultrasonography had a higher accuracy (96%). With regard to N staging, conventional endoluminal ultrasonography had an accuracy of 91% with a sensitivity of 78%. However, the agreement between miniprobes and conventional endoluminal ultrasonography and three-dimensional endoscopic ultrasonography and conventional endoluminal ultrasonography (k = 0.70) was lower. Interestingly, miniprobes had a lower accuracy of 81% whereas three-dimensional endoscopic ultrasonography had an accuracy of 100% without any false negative. No false positives were observed in any of the techniques. Accuracy for T and N staging was not influenced by longitudinal or circumferential extensions of the tumor in all types of endoscopic ultrasonography analyzed. CONCLUSIONS: miniprobes and especially three-dimensional endoscopic ultrasonography may be relevant during rectal cancer staging.

Predictive clinical model of tumor response after chemoradiation in rectal cancer.

Survival improvement in rectal cancer treated with neoadjuvant chemoradiotherapy (nCRT) is achieved only if pathological response occurs. Mandard tumor regression grade (TRG) proved to be a valid system to measure nCRT response. The ability to predict tumor response before treatment may significantly have impact the selection of patients for nCRT in rectal cancer. The aim is to identify potential predictive pretreatment factors for Mandard response and build a clinical predictive model design. 167 patients with locally advanced rectal cancer were treated with nCRT and curative surgery. Blood cell counts in peripheral blood were analyzed. Pretreatment biopsies expression of cyclin D1, epidermal growth factor receptor (EGFR), vascular endothelial growth factor (VEGF) and protein 21 were assessed. A total of 61 single nucleotide polymorphisms were characterized using the Sequenom platform through multiplex amplification followed by mass-spectometric product separation. Surgical specimens were classified according to Mandard TRG. The patients were divided as: "good responders" (Mandard TRG1-2) and "poor responders" (Mandard TGR3-5). We examined predictive factors for Mandard response and performed statistical analysis. In univariate analysis, distance from anal verge, neutrophil lymphocyte ratio (NLR), cyclin D1, VEGF, EGFR, protein 21 and rs1810871 interleukin 10 (IL10) gene polymorphism are the pretreatment variables with predictive value for Mandard response. In multivariable analysis, NLR, cyclin D1, protein 21 and rs1800871 in IL10 gene maintain predictive value, allowing a clinical model design. CONCLUSION: It seems possible to use pretreatment expression of blood and tissue biomarkers, and build a model of tumor response prediction to neoadjuvant chemoradiation in rectal cancer.

Colon carcinoma staging by endoscopic ultrasonography miniprobes.

BACKGROUND AND OBJECTIVES: Due to the increasing use of endoscopic techniques for colon cancer resection, pretreatment locoregional staging may gain critical interest. The use of endoscopic ultrasonography (EUS) miniprobes in this context has been seldom reported. Our aim was to determine the accuracy of EUS miniprobes for colon cancer staging. MATERIALS AND METHODS: Forty patients with colon cancer (2 in the cecum, 9 in the ascending colon, 5 in the transverse colon, 5 in the descending colon, and 19 in the sigmoid colon) were submitted to staging using 12 MHz EUS miniprobes. EUS and the anatomopathological results were compared with regard to the T and N stages. It was assessed if the location, longitudinal extension, or circumferential extension of the tumor had any influence on the accuracy in EUS staging. RESULTS: Tumor staging was feasible in 39 (98%) patients except in one case with a stenosing tumor (out of 6). Globally, T stage was accurately determined in 88% of the cases. In the assessment of the presence or absence of lymph node metastasis, miniprobes presented an accuracy of 82% with a sensitivity of 67%. These results were neither affected by the location nor by the longitudinal or circumferential extension of the tumor. CONCLUSIONS: EUS miniprobes may play an important role in assessing T and N stages in colon cancer and may represent an incentive to the research of new therapeutic areas for this disease.

Prognostic and Therapeutic Potential Implications of Genetic Variability in Prostaglandin E2 Pathway Genes in Rectal Cancer.

AIM: To evaluate the prognostic significance and potential therapeutic implication of genetic variability in prostaglandin E2 pathway genes in patients with locally advanced rectal cancer (LARC) treated with neoadjuvant chemoradiotherapy (nCRT) followed by surgery. MATERIALS AND METHODS: This cohort study included 167 patients with LARC, treated with nCRT followed by surgery. A total of 61 single nucleotide polymorphisms (SNPs) were characterized using the Sequenom platform through multiplex amplification followed by mass-spectometric product separation. Surgical specimens were classified according to Mandard tumor regression grade (TRG). The patients were divided as 'good responders' (Mandard TGR1-2) and 'poor responders' (Mandard TRG3-5). We examined prognostic value of polymorphisms studied to determine if they are related to Mandard response. RESULTS: Mandard tumor response and rs17268122 in ATP binding cassette subfamily C member (ABCC4) gene were the only two parameters with independent prognostic significance for disease-free survival. CONCLUSION: tagSNP ABCC4 rs17268122 appears to be a prognostic factor in LARC treated with nCRT and surgery, independently of response to nCRT. The screening of ABCC4 rs17268122 tagSNP and the Mandard tumor response in clinical practice may help to identify patients with different rectal cancer prognosis and contribute to an individualized therapeutic decision tree.

Desmoid Tumours in Familial Adenomatous Polyposis: Review of 17 Patients from a Portuguese Tertiary Center.

INTRODUCTION: Desmoid Tumours (DT) are benign tumours with an estimated incidence of 2-4 per million per year. Between 7-16% of them are associated with Familial Adenomatous Polyposis (FAP) and are mostly parietal or intra-abdominal. They are a challenge in relation to their unpredictable natural course, associated complications and difficult treatment. AIM: The aim of the present study was to review the occurrence, management and follow-up of DT on FAP patients treated consecutively at a tertiary care center. MATERIALS AND METHODS: A retrospective review of clinical data from patients treated consecutively between 1993 and 2014. Patients' data was gathered from clinical records. Data collection included the following variables: demographic data, genotype, FAP phenotype, data on FAP related surgery, DT diagnosis, location, size and number, DT treatment, patients' status and follow-up data. RESULTS: The study population consisted of 17 patients from 9 families; with a mean age of 41 years, mostly women (59%) and most with a mutation either on codon 232 or 554. Most tumours had an intra-abdominal component (59%) with a mean size of 5cm. Fifteen patients were first treated with pharmacotherapy (Non-steroidal Anti-inflammatory Drugs (NSAIDs) and Tamoxifen). Five patients (29%) underwent surgery, 4 of them for complications of intra-abdominal tumours and 1 patient for abdominal wall tumours. Two patients underwent chemotherapy in relation to aggressive intra-abdominal disease. The mean follow-up time since diagnosis of DT was 123 months. Overall, 2 patients had remission, 11 patients had regression or stabilized disease, and 2 patients had progression. One patient died due to surgical complications. CONCLUSION: Diagnosis of DT is based on clinical symptoms, without the need for screening, although imaging plays an important role once diagnosis is suspected. The treatment approach is conservative on most patients, leaving surgery for DT related complications. The follow-up of patients with DT is also based on clinical symptoms.

Indocyanine green and infrared fluorescence in detection of sentinel lymph nodes in endometrial and cervical cancer staging - a systematic review.

OBJECTIVE: Sentinel lymph node (SLN) mapping for endometrial (EC) and cervical cancers (CC) is a current technique that could provide benefits over traditional lymphadenectomy. Near-infrared (NIR) fluorescence imaging is a promising technique to perform this procedure. We conducted a systematic review of the evidence regarding the technique and the effectiveness of indocyanine green (ICG) during SLN biopsy, using robotic and laparoscopic assisted surgery and laparotomy. MATERIALS AND METHODS: We conducted a computer literature search for published English language studies in humans using PubMed since January 2010 up to May 2015. The initial search came up with 17 articles, of which 10 articles used ICG as tracer in SLN biopsy in EC and CC. RESULTS: 422 patients were included in 10 studies, ranging from 1 to 227 patients. The main surgical approach used in ICG SLN biopsy was robotic-assisted surgery in 368 patients. Laparotomy was performed in 39 patients and laparoscopy in 15. The detection rate in SLN mapping using ICG ranged from 78% to 100% for cervical injection and from 33% to 100% for hysteroscopic injection. Sensitivity and negative predictive value (NPV) vary from 50% to 100% and 88% to 100%, respectively. The most common site of injection was the cervix (two quadrants); this technique is correlated with a high detection rate (ranging from 78% to 95%). The cervical submucosal and stromal injections were the most frequent sites used. No complications related to ICG administration were described. CONCLUSIONS: NIR fluorescence imaging using ICG is performed in robotic-assisted surgery in laparoscopy and in laparotomy, being a feasible, safe, time-efficient and seemingly reliable method for lymphatic mapping in early stage of CC and EC. Although it has promising results in SLN mapping, randomized studies, with larger patient samples, are needed.

Pelvic Intravenous Leiomyomatosis - Case Report.

Introduction Intravenous leiomyomatosis is a benign and rare condition that can result in cardiac events with fatal outcomes when left untreated. Intravenous leiomyomatosis is probably underestimated because the diagnosis is easily missed. We present a case of an intravenous leiomyomatosis without extra-pelvic involvement, with a brief review of this pathology. Case Report 46-year-old woman submitted to hysterectomy and bilateral adnexectomy because of a pelvic mass detected in ultrasound. During the surgery, intravenous leiomyomatosis diagnosis was suspected. Pathological analysis confirmed this suspicion. Further imaging exams were performed without detecting any anomalies related to this condition. The patient remained with no evidence of disease after one year of follow-up. Conclusion Intravenous leiomyomatosis is a rare condition that can lead to serious complications. Early diagnosis followed by an appropriate treatment is very important to patient outcome, and underdiagnoses can be counteracted if the gynecologist is aware of this entity.

Pelvic Intravenous Leiomyomatosis - Case Report / Leiomiomatose intravenosa pélvica - caso clínico

Abstract Introduction Intravenous leiomyomatosis is a benign and rare condition that can result in cardiac events with fatal outcomes when left untreated. Intravenous leiomyomatosis is probably underestimated because the diagnosis is easily missed. We present a case of an intravenous leiomyomatosis without extra-pelvic involvement, with a brief review of this pathology. Case Report 46-year-old woman submitted to hysterectomy and bilateral adnexectomy because of a pelvic mass detected in ultrasound. During the surgery, intravenous leiomyomatosis diagnosis was suspected. Pathological analysis confirmed this suspicion. Further imaging exams were performed without detecting any anomalies related to this condition. The patient remained with no evidence of disease after one year of follow-up. Conclusion Intravenous leiomyomatosis is a rare condition that can lead to serious complications. Early diagnosis followed by an appropriate treatment is very important to patient outcome, and underdiagnoses can be counteracted if the gynecologist is aware of this entity.

Resumo Introdução A leiomiomatose intravenosa é uma condição benigna, rara, que pode resultar em eventos cardíacos, podendo ser fatal quando não tratada. Esta patologia está provavelmente subestimada, uma vez que facilmente não é diagnosticada. Neste artigo, apresentamos um caso de leiomiomatose intravenosa sem envolvimento extrapélvico, com uma breve revisão da patologia. Relato de Caso Mulher de 46 anos de idade, submetida a histerectomia e anexectomia bilateral após detecção ecográfica de massa pélvica. Durante a cirurgia, houve a suspeita de leiomiomatose intravenosa, e o exame anátomo-patológico confirmou o diagnóstico. A paciente foi submetida a outros exames de imagem, não sendo detectada qualquer anomalia relacionada com a patologia. Após um ano de followup, a paciente manteve-se sem evidência de doença. Conclusão A leiomiomatose intravenosa é uma condição rara que pode levar a complicações graves. O diagnóstico precoce e o tratamento adequado são muito importantes para o prognóstico da paciente, e os subdiagnósticos podem ser evitados se o ginecologista estiver ciente dessa entidade.

Investigation and Management of Adnexal Masses in Pregnancy.

Adnexal masses can be found in 0.19 to 8.8% of all pregnancies. Most masses are functional and asymptomatic and up to 70% resolve spontaneously in the second trimester. The main predictors of persistence are the size (>5 cm) and the imagiological morphocomplexity. Those that persist carry a low risk of malignancy (0 to 10%). Most malignant masses are diagnosed at early stages and more than 50% are borderline epithelial neoplasms. Ultrasound is the preferred method to stratify the risk of complications and malignancy, allowing medical approach planning. Pregnancy and some gestational disorders may modify the levels of tumor markers, whereby their interpretation during pregnancy should be cautious. Large masses are at increased risk of torsion, rupture, and dystocia. When surgery is indicated, laparoscopy is a safe technique and should ideally be carried out in the second trimester of pregnancy.

Predictive Response Value of Pre- and Postchemoradiotherapy Variables in Rectal Cancer: An Analysis of Histological Data.

Background. Neoadjuvant chemoradiotherapy (nCRT) followed by curative surgery in locally advanced rectal cancer (LARC) improves pelvic disease control. Survival improvement is achieved only if pathological response occurs. Mandard tumor regression grade (TRG) proved to be a valid system to measure nCRT response. Potential predictive factors for Mandard response are analyzed. Materials and Methods. 167 patients with LARC were treated with nCRT and curative surgery. Tumor biopsies and surgical specimens were reviewed and analyzed regarding mitotic count, necrosis, desmoplastic reaction, and inflammatory infiltration grade. Surgical specimens were classified according to Mandard TRG. The patients were divided as "good responders" (Mandard TRG1-2) and "bad responders" (Mandard TRG3-5). According to results from our previous data, good responders have better prognosis than bad responders. We examined predictive factors for Mandard response and performed statistical analysis. Results. In univariate analysis, distance from anal verge and ten other postoperative variables related with nCRT tumor response had predictive value for Mandard response. In multivariable analysis only mitotic count, necrosis, and differentiation grade in surgical specimen had predictive value. Conclusions. There is a lack of clinical and pathological preoperative variables able to predict Mandard response. Only postoperative pathological parameters related with nCRT response have predictive value.