Restorative Proctocolectomy: When to Propose and When to Avoid

Restorative proctocolectomy with ileal pouch-anal anastomosis (RPC-IPAA) is a surgical procedure performed when excising the entire colon and rectum is need and reconstitution of the intestinal transit through an ileal pouch is made with anastomosis to the anus. It is mainly used to treat patients with familial adenomatous polyposis (FAP) and ulcerative colitis (UC). It is a complex surgery with potential complications, and the functional outcomes can be worse over time. So, it is essential to select the appropriate patient, proceed to a correct surgical technique, and know-how to deal with and solve the main ileal pouch complications. This chapter intends to be a reflection on this subject

Perianal Paget Disease: Different Entities With the Same Name

Extramammary Paget disease (EMPD) is a rare form of cancer that involves skin areas rich in apocrine glands. The common sites of occurrence include the vulva, perianal region, perineum, and axilla. Perianal Paget disease (PPD) is a subset of EMPD, which arises in the perianal skin. The disease commonly presents with a thickened plaque-like lesion with erythema or white scaly appearance. It is generally classified into two categories based on the origin of the tumor cells: (1) primary PPD if the tumor arises from intraepidermal cells and (2) secondary PPD if cancer originates from the underlying colorectal or urinary tract neoplasm. Due to its rarity, only a few sporadic case reports have been published in the literature, and treatment methods are yet to be standardized. In light of this, we report two PPD cases with different etiopathogenesis and staging: one involved only the perianal skin without regional or metastatic disease, and was not accompanied by visceral adenocarcinomas although there was a previous history of sigmoid adenocarcinoma; the other was probably secondary to an anal canal tumor spreading with disseminated disease involving the perianal and perineum area with bilateral inguinal, pelvic lymph node, and liver metastasis. The treatment plans and the outcomes of both cases were necessarily different from each other.info:eu-repo/semantics/publishedVersio

Intussusception in a pregnant woman

Abdominal pain in a pregnant woman with a history of laparoscopic Roux-en-Y gastric bypass (LRYGB) in the emergency department is challenging. Intussusception is a rare cause of small bowel obstruction after LRYGB and can lead to intestinal necrosis, perforation, sepsis and death. The authors report a case of a 34-week pregnant patient, previously submitted to LRYGB, presenting to the emergency department with abdominal pain and vomiting. A computed tomography scan suggested the presence of ileoileal intussusception. So, an emergent laparotomy was performed with invagination reduction. The postoperative period was uneventful, as well as pregnancy and caesarian performed 4 weeks after surgery. At the 45-month follow-up, there was no recurrence of intussusception.info:eu-repo/semantics/publishedVersio

Miniprobe endoscopic ultrasonography for the diagnosis of colon hemangiolymphangioma

Hemangiolymphangioma is a very rare benign vascular tumor that affects the gastrointestinal tract in less than 1% of cases. We present the case of an asymptomatic 52-year-old female referred for endoscopic colorectal cancer screening. A sub-epithelial pediculated polypoid lesion in the splenic angle of the colon was identified. An endoscopic ultrasonography with a miniprobe was performed, which identified an anechoic lesion in the submucosal layer. Surgery was performed and the histologic findings were compatible with two hemangiolymphangioma lesions. This is one of the few cases reported in the literature of hemangiolymphangioma diagnosed by miniprobe endoscopic ultrasonography and the first to describe two lesions in the same patient.info:eu-repo/semantics/publishedVersio

Mucinous Adenocarcinoma Arising in Chronic Perianal Fistula: Good Results with Neoadjuvant Chemoradiotherapy Followed by Surgery

Chronic perianal fistulas are a common clinical condition. However, their evolution to adenocarcinoma is rare. We report the case of a 48-year-old man with perianal chronic fistulas, who developed two perianal ulcerated lesions near the external orifices of the fistulas, which extended proximally as a pararectal tumor. No intestinal lesion was seen at endoscopic examination. Histopathological biopsy indicated mucinous adenocarcinoma. Staging was performed by pelvic magnetic resonance imaging (MRI) and thoracoabdominal CT scan. The patient underwent a laparoscopic colostomy followed by neoadjuvant chemoradiotherapy and then laparoscopic abdominoperineal resection followed by adjuvant therapy. We have seen a favorable outcome with no recurrence at 3 years of follow-up

Understanding Sphingolipids Metabolism in Colorectal Cancer

Colorectal cancer is the fourth most frequently diagnosed cancer and one of the leading causes of cancer death around the world. Patients with locally advanced rectal cancer are treated with a combination of radiotherapy, chemotherapy, and surgery. Treatment response can be quite variable—some with complete response, while others show little or no response—and pathologic response has become a significant predictor of good oncologic outcome. The knowledge of the molecular pathways in colorectal cancer is increasing. However, unfortunately, it still fails to find some more precise method to select and tailor patients to different treatment approaches and overcome treatment resistance. Recent investigations showed that sphingolipids play an essential role in cancer biology and can influence treatment response and aggressiveness. It is of utmost importance to understand sphingolipids’ metabolism in colorectal cancer and how it affects tumor biology and response to treatment

Extensive colectomy in colorectal cancer and hereditary nonpolyposis colorectal cancer – long-term results

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.info:eu-repo/semantics/publishedVersio

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 preop­erative 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

NPC1 silent variant induces skipping of exon 11 (p.V562V) and unfolded protein response was found in a specific Niemann‐Pick type C patient

Background: Niemann-Pick type C (NPC, MIM #257220) is a neuro-visceral disease, caused predominantly by pathogenic variants in the NPC1 gene. Here we studied patients with clinical diagnosis of NPC but inconclusive results regarding the molecular analysis. Methods: We used a Next-Generation Sequencing (NGS)-panel followed by cDNA analysis. Latter, we used massively parallel single-cell RNA-seq (MARS-Seq) to address gene profiling changes and finally the effect of different variants on the protein and cellular levels. Results: We identified novel variants and cDNA analysis allowed us to establish the functional effect of a silent variant, previously reported as a polymorphism. We demonstrated that this variant induces the skipping of exon 11 leading to a premature stop codon and identified it in NPC patients from two unrelated families. MARS-Seq analysis showed that a number of upregulated genes were related to the unfolded protein response (UPR) and endoplasmic reticulum (ER) stress in one specific patient. Also, for all analyzed variants, the NPC1 protein was partially retained in the ER. Conclusion: We showed that the NPC1 silent polymorphism (p.V562V) is a disease-causing variant in NPC and that the UPR is upregulated in an NPC patient.info:eu-repo/semantics/publishedVersio

WHEN SYNERGIC WORK BETWEEN GENERAL AND VASCULAR SURGEONS MAKES THE DIFFERENCE

Introduction: Chronic Mesenteric Ischemia (CMI) resulting from an impaired blood flow of the splanchnic organs is characterized by an insidious clinical course and is often an underestimated and undertreated disease. The natural history is progressive, caused by atherosclerosis progression in a polymorbidity and aging society. Due to collateralization, diffuse stenotic lesions can remain asymptomatic for a long time and usually manifests when an acute medical or surgical event occurs. In those cases, the clinical suspicion is crucial to reach the diagnosis promptly, allowing to preserve the patients’ quality of life and, above all, the patients’ life. Clinical case 1: A 48-year-old woman with a history of smoking goes to the emergency department for hypogastric abdominal pain, nausea, and vomiting. A study was performed by computed tomography angiography (CTA) that demonstrated occlusion of the superior mesenteric artery (SMA) and significant stenosis of the celiac trunk associated with thickening of small bowel suggestive of ischemia. A thrombectomy of the superior mesenteric artery and retrograde stenting of the artery ostium was performed, followed by extensive enterectomy on 24-hour laparotomy. After hospital discharge, the patient had new abdominal complaints, and stent occlusion was documented in the SMA. She underwent an iliohepatic bypass with good results. Clinical case 2: A 76-year-old man previously submitted to a right axillofemoral and femoropopliteal sequential bypass to treat chronic limb-threatening ischemia (CLTI), went to the emergency department with complaints of abdominal pain, vomiting, and constipation. The diagnosis of a subocclusive intestinal syndrome was made, having performed a computed tomography (CT) scan where it was observed the Ileum adhered to the cecum, which was thickened; the celiac trunk and SMA had subocclusive stenosis. The patient underwent primary celiac trunk stenting with a balloon-expandable stent. After celiac artery revascularization, a right colectomy was performed with two segmental enterectomies. Conclusion: Mesenteric ischemia is a severe condition that is often underdiagnosed due to the lack of awareness of most physicians and nonspecific symptoms. The vascular intervention aims to prevent intestinal necrosis, which can lead to the patient’s death. Timely diagnosis is therefore essential, and revascularization must be performed before or at the same time as intestinal surgery. The close collaboration between the general and vascular surgery teams is essential to the success of these cases