Rodriguez-Soler M.,Hospital General Universitario Of Alicante |
Perez-Carbonell L.,Hospital General Universitario Of Alicante |
Guarinos C.,Hospital General Universitario Of Alicante |
Zapater P.,Hospital General Universitario Of Alicante |
And 25 more authors.
Gastroenterology | Year: 2013
Background & Aims: Colorectal cancers (CRCs) with microsatellite instability (MSI) and a mismatch repair (MMR) immunohistochemical deficit without hypermethylation of the MLH1 promoter are likely to be caused by Lynch syndrome. Some patients with these cancers have not been found to have pathogenic germline mutations and are considered to have Lynch-like syndrome (LLS). The aim of this study was to determine the risk of cancer in families of patients with LLS. Methods: We studied a population-based cohort of 1705 consecutive patients, performing MSI tests and immunohistochemical analyses of MMR proteins. Patients were diagnosed with Lynch syndrome when they were found to have pathogenic germline mutations. Patients with MSI and loss of MSH2 and/or MSH6 expression, isolated loss of PMS2 or loss of MLH1 without MLH1 promoter hypermethylation, and no pathogenic mutation were considered to have LLS. The clinical characteristics of patients and the age- and sex-adjusted standardized incidence ratios (SIRs) of cancer in families were compared between groups. Results: The incidence of CRC was significantly lower in families of patients with LLS than in families with confirmed cases of Lynch syndrome (SIR for Lynch syndrome, 6.04; 95% confidence interval [CI], 3.58-9.54; SIR for LLS, 2.12; 95% CI, 1.16-3.56; P <.001). However, the incidence of CRC was higher in families of patients with LLS than in families with sporadic CRC (SIR for sporadic CRC, 0.48; 95% CI, 0.27-0.79; P <.001). Conclusions: The risk of cancer in families with LLS is lower that of families with Lynch syndrome but higher than that of families with sporadic CRC. These results confirm the need for special screening and surveillance strategies for these patients and their relatives. © 2013 AGA Institute.
Biondo S.,Hospital Universitario Of Bellvitge |
Ortiz H.,Public University of Navarra |
Lujan J.,Hospital Universitario Virgen Of La Arrixaca |
Codina-Cazador A.,Hospital Universitario Of Girona Dr ueta |
And 6 more authors.
Colorectal Disease | Year: 2010
Objective: The aim of this prospective observational study was to compare the quality of total mesorectal excision between laparoscopic and open surgery for rectal cancer. Method: In April 2006, the Spanish Association of Surgeons started an audited teaching programme. The project was similar to the Norwegian one and several training courses were arranged. Patients were classified into two groups: laparoscopic rectal resection (LR) and open rectal resection (OR). The quality of the mesorectum was scored: complete, nearly complete or incomplete. The circumferential margin (CRM) was considered positive, if tumour was located 1 mm or less from the surface of the specimen. Results: Between 2006 and 2008, 604 patients underwent rectal resection with total mesorectal excision for rectal cancer: 209 patients were included in the LR group and 395 patients in the OR group. There were no differences in terms of number of lymph nodes affected, distance of the tumour from CRM. The mesorectum was complete in 464 (76.8%), nearly complete in 91 (15.1%) and incomplete in 49 patients (8.1%). CRM was negative in 534 patients (88.4%). No differences were observed between the two groups. The overall postoperative morbidity rate was 38.8% in LR group and 44.6% in OR group (P = 0.170). Overall postoperative mortality rate was 2.5%. One patient died (0.5%) in the LR group and 14 patients died (3.5%) in the OR group (P = 0.021). Conclusion: Laparoscopic resection for rectal cancer is feasible with the quality of mesorectal excision and postoperative outcomes similar to those of open surgery.
Hernandez-Boluda J.-C.,Hospital Clinico Universitario |
Pereira A.,Hospital Clinic |
Cervantes F.,University of Barcelona |
Alvarez-Larran A.,Hospital Del Mar |
And 11 more authors.
Blood | Year: 2012
Patients with essential thrombocythemia (ET) and polycythemia vera (PV) have an increased incidence of acute myeloid leukemia and new nonhematologic malignancies compared with the general population. However, information on the factors determining the risk for such complications is limited. In the present study, we investigated whether constitutional genetic variations in DNA repair predispose to leukemic transformation and new nonmyeloid neoplasias in patients with ET and PV. Case-control studies for predisposition to both types of malignancies were nested in a cohort of 422 subjects diagnosed with ET or PV during the period 1973-2010 in several institutions in Spain. A total of 64 incidence cases of leukemia and 50 cases of primary nonmyeloid cancers were accrued. At conditional regression analysis, the Gln/Gln genotype in the XPD codon 751 showed the strongest association with both leukemic transformation (odds ratio [OR] = 4.9; 95% confidence interval [95% CI], 2.0-12) and development of nonmyeloid malignancies (OR = 4.2; 95% CI, 1.5-12). Additional predictive factors were exposure to cytoreductive agents for leukemic transformation (OR = 3.5; 95% CI, 2.0-6.2) and age for nonmyeloid malignancies (OR = 2.0; 95% CI, 1.4-2.8). These findings provide further evidence about the contribution of inherited genetic variations to the pathogenesis and clinical course of myeloproliferative neoplasms. © 2012 by The American Society of Hematology.
Borras-Blasco J.,Hospital de Sagunto
Expert opinion on biological therapy | Year: 2013
To assess patients' acceptability of switching etanercept from the prefilled syringe to the autoinjection pen in rheumatoid arthritis, psoriatic arthritis and ankylosing spondylitis patients. A two-phase cross-sectional study was designed. First phase: consisted of a 2 h information/education session to present the pen and learning its use. At the end of the session, patients completed a self-administered questionnaire regarding the meeting usefulness. Second phase: eight single-use prefilled Enbrel® Pen Myclic were provided. The number of patients included were 104 (rheumatoid arthritis 58, psoriatic arthritis 31, ankylosing spondylitis 15). Attendees showed a high satisfaction degree with the meeting. A high percentage of patients (74.4 - 95.1%) rated the items of the questionnaire as 'very much'. Patients reported > 95% adherence to etanercept autoinjection pen. The percentage of patients self-administering etanercept increased from 66 to 94% and the percentage of those attending primary care for injection decreased from 23 to 2%. It produced important cost savings, in our study represents > 22.000 euros/year. Pain at the injection site was significantly reduced with the use of autoinjection pen. Ninty seven (93%) patients considered that the use of the autoinjection pen was easier than the syringe and 94.2% chose the pen as their preferred delivery system. The autoinjection pen is an advantageous delivery option for etanercept. This study provides further evidence to support that the education strategy is a valid method for switching anti-TNF-α drugs from syringe to pen in patients with rheumatoid arthritis, psoriatic arthritis and ankylosing spondylitis.
Manosa M.,Hospital Universitari Germans Trias i Pujol |
Manosa M.,Research Center Biomedica En Red Of Enfermedades Hepaticas gestivas |
Cabre E.,Hospital Universitari Germans Trias i Pujol |
Cabre E.,Research Center Biomedica En Red Of Enfermedades Hepaticas gestivas |
And 11 more authors.
Inflammatory Bowel Diseases | Year: 2013
Background: Endoscopic recurrence occurs in up to 80% of patients with Crohn's disease 1 year after intestinal resection. Imidazole antibiotics, thiopurines, and particularly their combination have proven efficacy in preventing endoscopic recurrence. The aim of the study was to compare the efficacy of the addition of metronidazole (for 3 months after the surgical treatment) to azathioprine for the prevention of postsurgical endoscopic recurrence. Methods: A pilot study was made of 50 patients with Crohn's disease undergoing intestinal resection with ileocolic anastomosis and treated with 2 to 2.5 mg/kg of azathioprine per day for 1 year. The patients were randomized to receive additional 15 to 20 mg/kg of metronidazole per day or placebo for the first 3 months (n = 25 per arm). Endoscopic assessment was performed 6 and 12 months after the surgical resection. The primary end point was the prevention of endoscopic recurrence as defined by a Rutgeerts score of <2 at 6 months. The initial sample size had an 80% statistical power in detecting an absolute risk reduction of ≥30%. Results: Endoscopic recurrence occurred in 28% and 44% of the patients at 6 months (P = 0.19) and in 36% and 56% (P = 0.15) at 12 months in the metronidazole and placebo groups, respectively. No statistically significant differences were found between the treatment groups regarding severe endoscopic recurrence (Rutgeerts score ≥ 3) at 6 and 12 months. Likewise, there were no differences in the rate of adverse events between the treatment groups. Conclusions: The addition of metronidazole to azathioprine did not significantly reduce the risk of endoscopic recurrence beyond azathioprine alone in this study but does not worsen its safety profile. Copyright © 2013 Crohn's & Colitis Foundation of America, Inc.