Abstract：
:Germline mutations in BRCA1 and BRCA2 genes predispose to hereditary breast cancer, whereas carriers of mutations in any of the mismatch repair genes (MMR; hMLH1, hMSH2, hMSH6, hPMS2) are highly susceptible to Lynch syndrome. In the present study, we describe a woman affected by unilateral breast cancer at the age of 35 years. After 4 years, during the follow-up she developed synchronous (and asymptomatic) endometrial cancer, ovarian carcinoma and renal clear cell carcinoma. After 7 years (at age 46), the patient developed an infiltrating carcinoma of the contralateral breast and died in a few months of metastatic disease. Initial investigations led to the detection of a constitutional mutation in the BRCA1 gene. The extended genealogical tree disclosed a suspected history of colorectal carcinoma in the maternal branch. Endometrial cancer of the proband was investigated for microsatellite instability (MSI) and immunohistochemical expression of MLH1, MSH2 and MSH6 proteins. An high MSI status and lack of expression of MLH1 protein were detected. hMLH1 gene sequencing revealed the presence of a constitutional mutation, which was also found in the mother of the proband. Loss of the wild-type hMLH1 allele was detected in both breast tumors, thus suggesting that the MMR defect contributed to the development of the breast cancer.
journal_name
Tech Coloproctoljournal_title
Techniques in coloproctologyauthors
Pedroni M,Di Gregorio C,Cortesi L,Reggiani Bonetti L,Magnani G,Simone ML,Medici V,Priore Oliva C,Marino M,Ponz de Leon Mdoi
10.1007/s10151-013-1030-ysubject
Has Abstractpub_date
2014-03-01 00:00:00pages
285-9issue
3eissn
1123-6337issn
1128-045Xjournal_volume
18pub_type
杂志文章abstract：BACKGROUND:Although the Hinchey scoring system has guided surgical decision making for perforated diverticulitis, what constitutes optimal surgical management is controversial. We report our experience of selective primary closure of the perforation without use of a transverse colostomy and the specific circumstances i...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-011-0675-7
更新日期：2011-06-01 00:00:00
abstract：BACKGROUND:Management of anal fistula (AF) remains challenging with many controversies. The purpose of this study was to explore current surgical practice in the management of AF with a focus on technical variations among surgeons. METHODS:An online survey was conducted by inviting all surgeons and physicians on the m...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-019-02051-5
更新日期：2019-08-01 00:00:00
abstract：BACKGROUND:Technical feasibility of inferior rectal nerve anastomosis to the anterior vagus branch of the perineally transposed antropyloric valve for total anorectal reconstruction has been previously demonstrated in cadavers. To the best of our knowledge, the present study is the first report of using this procedure ...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-013-1092-x
更新日期：2014-06-01 00:00:00
abstract：BACKGROUND:Anal fissures can cause morbidity in an otherwise healthy young patient. The process of evacuation results in stretching and descent of the anoderm and perineum especially posteriorly. Posterior perineal support may provide counter pressure at the posterior aspect of the pelvic floor, balancing the pressure ...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-009-0453-y
更新日期：2009-03-01 00:00:00
abstract：:A 44-year-old man presented with a large and rapidly growing skin lesion approximately six months after resection of a rectal carcinoma. The lesion measured 40 cm in size, extended from the suprapubic area to the proximal half of the left groin, and showed a particular zosteriform aspect. Biopsy confirmed a metastatic...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-003-0019-3
更新日期：2003-07-01 00:00:00
abstract：BACKGROUND:Porcine small intestinal submucosa (SIS) is a bioprosthetic collagen material used in the management of various surgical conditions, especially hernia repairs. We studied the effectiveness of porcine SIS Bioprosthetic plug (Surgisis AFP, Cook Biotech Inc., West Lafayette, IN, USA) in the treatment of fistula...
journal_title：Techniques in coloproctology
pub_type： 杂志文章,多中心研究
doi：10.1007/s10151-012-0897-3
更新日期：2013-04-01 00:00:00
abstract：BACKGROUND:Anastomotic leak after rectal surgery is reported in 9% (range 3-28%) of patients. The aim of our study was to evaluate the effectiveness of endosponge therapy for anastomotic. Endpoints were the rate of restored continuity and the functional bowel outcome after anastomotic leakage. METHODS:This was a multi...
journal_title：Techniques in coloproctology
pub_type： 杂志文章,多中心研究
doi：10.1007/s10151-019-02007-9
更新日期：2019-06-01 00:00:00
abstract：BACKGROUND:Obese patients have higher complication rates after pelvic surgery. Laparoscopic rectal surgery may not be possible in the obese individual due to mesorectal, total pelvic and general visceral fat volumes. Very low energy diets reduce visceral fat but the changes within the pelvis and mesorectum are unknown....
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-019-02074-y
更新日期：2019-09-01 00:00:00
abstract：:Intussusception of the appendix is a rare condition. We present the case of a 72-year-old woman with multiple polyps in the colon with an appendix completely intussuscepted into a polyp within the caecum. The clinical features, preoperative diagnosis, classification and treatment of this condition are discussed with r...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-004-0068-2
更新日期：2004-08-01 00:00:00
abstract：:The aim of this study was to evaluate the role of ayurvedic setons in the treatment of low fistula-in-ano. One hundred and eight patients were randomised into either conventional fistulotomy (F) or ayurvedic cutting seton insertion (C). Endpoints investigated included time to wound healing and complications of surgery...
journal_title：Techniques in coloproctology
pub_type： 临床试验,杂志文章,随机对照试验
doi：10.1007/s101510100015
更新日期：2001-12-01 00:00:00
abstract：:Advancements in minimally invasive surgery have both revolutionized laparoscopy and set the stage for the advancement of endoscopic surgery to the forefront of modern medicine. Natural orifice transluminal endoscopic surgery (NOTES) has now become a subject of great interest to surgeons worldwide who wish to reduce th...
journal_title：Techniques in coloproctology
pub_type： 杂志文章,评审
doi：10.1007/s10151-012-0934-2
更新日期：2013-02-01 00:00:00
abstract：:Split transverse colostomy is a novel method of defunctioning the distal colon. Herein, we describe the method of this procedure and present early interim results showing that this procedure is safe, relatively complication free and feasible for many pathologies affecting the colon and pelvis, especially in alleviatio...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-006-0253-6
更新日期：2006-03-01 00:00:00
abstract：:Despite improvements in medical therapy, the annual high mortality rate from end-stage heart failure continues. Although cardiac transplantation is a successful treatment for these patients, the shortage of donor hearts has led surgeons to seek other options. Ventricular assist device (VAD) technology is applied to a ...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-007-0365-7
更新日期：2007-09-01 00:00:00
abstract：BACKGROUND:Irritable bowel syndrome (IBS) is a functional disorder of the gastrointestinal tract characterized by abdominal discomfort, pain and changes in bowel habits, often associated with psychological/psychiatric disorders. It has been suggested that the development of IBS may be related to the body's response to ...
journal_title：Techniques in coloproctology
pub_type： 杂志文章,评审
doi：10.1007/s10151-013-1106-8
更新日期：2014-07-01 00:00:00
abstract：BACKGROUND:This study was designed to assess defecatory function in patients who underwent laparoscopic ventral rectopexy (LVR) for external rectal prolapse (ERP). METHODS:Thirty-one patients who underwent evacuation proctography 6 months postoperatively were assessed. Preoperative proctography had been performed in 2...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-015-1395-1
更新日期：2016-02-01 00:00:00
abstract：BACKGROUND:Perineal wound complications are frequently observed after abdominoperineal resection (APR) for rectal cancer, especially in preoperatively irradiated patients. This is the first study to investigate whether local application of gentamicin-impregnated collagen fleece reduces deep perineal wound infection aft...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-008-0440-8
更新日期：2008-12-01 00:00:00
abstract：BACKGROUND:Transanal intersphincteric resection (ISR) was introduced and has been increasingly performed as an ultimate surgical treatment for extremely low rectal cancer. We considered that high quality and less invasive surgery could be achieved if ISR and laparoscopic surgery were combined. METHODS:Between December...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-006-0243-8
更新日期：2006-03-01 00:00:00
abstract：:Ischemic injury to the bowel is a disease entity that has a wide spectrum of pathological and clinical findings. Patients with chronic ischemia present with colicky abdominal pain, obstructive symptoms and signs of ischemic colonic stricture. We reported the first case of ischemic colitis arising from a superior recta...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-011-0712-6
更新日期：2013-06-01 00:00:00
abstract：BACKGROUND:The aim of this study was to report the outcomes of sacral neuromodulation (SNM) in chronic pelvic pain (CPP) patients in the Finnish national cohort. METHODS:This was a register-based retrospective study, involving all the centers that provide SNM treatment in Finland. The data of all patients treated with...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-020-02148-2
更新日期：2020-03-01 00:00:00
abstract：BACKGROUND:In theory, perioperative detection of lymph nodes with the injection of isosulfan blue dye should provide lymph road mapping (LRM) able to direct the resection. However, there is no supporting evidence for this theory in cases of colon cancer. We reanalysed all operative reports using the sentinel lymph node...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-010-0603-2
更新日期：2010-09-01 00:00:00
abstract：BACKGROUND:Accurate delineation of anal fistula anatomy in recurrent cases will assist in surgical fistula eradication whilst preserving continence. Recently, transperineal ultrasonography (TPUS) has been used in perirectal inflammation where there may be advantage over endoanal ultrasonography (EAUS) in complex fistul...
journal_title：Techniques in coloproctology
pub_type： 临床试验,杂志文章
doi：10.1007/s10151-006-0296-8
更新日期：2006-12-01 00:00:00
abstract：:Hepatic resection for colorectal liver metastases remains the only therapeutic option that improves long-term survival and offers potential cure. By conventional resectability criteria, only a limited number of patients with metastatic disease can be subjected to surgical intervention. In the past decade, better under...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-011-0750-0
更新日期：2011-10-01 00:00:00
abstract：BACKGROUND:Achieving full recovery after colorectal cancer surgery means a return to normal physical and psychological health and to a normal social life. Recovery data focusses on time to discharge rather than longer term functionality including return to work (RTW). We aim to assess return to normal holistic function...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-014-1232-y
更新日期：2014-12-01 00:00:00
abstract：BACKGROUND:Extralevator abdominoperineal excision (ELAPE) probably improves the oncological quality of low rectal cancer surgery, as compared to standard abdominoperineal excision (SAPE), possibly due to lower rates of accidental perioperative bowel perforations and lower rates of circumferential resection margin (CRM)...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-014-1243-8
更新日期：2015-03-01 00:00:00
abstract：:Prompt and appropriate referrals to colorectal surgeons result in better clinical and more cost-effective outcome: the question that then arises is how patients with large bowel diseases get in contact with the specialist. The aim of the present research was to investigate the sources of clinical referrals of 1000 pat...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s101510170001
更新日期：2001-08-01 00:00:00
abstract：BACKGROUND:Technical factors affect oncologic outcomes in rectal cancer surgery. The anatomy of the bony pelvis can affect technical aspects of surgery, but is seldom considered preoperatively. We performed a morphometric analysis of the bony pelvis in patients having rectal cancer resection to assess its effect on sur...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-020-02273-y
更新日期：2020-10-01 00:00:00
abstract：BACKGROUND:Current evidence suggests that pelvic floor reconstruction following extralevator abdominoperineal excision of rectum (ELAPER) may reduce the risk of perineal herniation of intra-abdominal contents. Options for reconstruction include mesh and myocutaneous flaps, for which long-term follow-up data is lacking....
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-019-02056-0
更新日期：2019-08-01 00:00:00
abstract：BACKGROUND:Chronic non-healing wounds are a major problem after closed incision pilonidal surgery. Freshly collected autologous adipose tissue injected into perianal fistulas in patients with Crohn's disease seems to promote healing. We investigated this technique in patients with non-healing wounds after cleft-lift su...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-020-02276-9
更新日期：2020-12-01 00:00:00
abstract：BACKGROUND:Representatives from the Italian centers experienced in sacral neuromodulation (SNM) for the treatment of bowel dysfunction met in order to define the current clinical practice in Italy and to produce a consensus statement regarding indications for this therapy and patient management. METHODS:Fifty Italian ...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-013-1002-2
更新日期：2014-01-01 00:00:00
abstract：BACKGROUND:The aim of this study was to evaluate the prognostic value of preoperative sarcopenia with regard to postoperative morbidity and long-term survival in patients with peritoneal metastasis from colorectal cancer treated with cytoreductive surgery (CRS) and hyperthermic intraperitoneal chemotherapy (HIPEC). ME...
journal_title：Techniques in coloproctology
pub_type： 杂志文章
doi：10.1007/s10151-020-02159-z
更新日期：2020-04-01 00:00:00
