Clinical importance of the EMSY gene expression and polymorphisms in ovarian cancer.

EMSY, a BRCA2-associated protein, is amplified and overexpressed in various sporadic cancers. This is the first study assessing the clinical impact of its expression and polymorphisms on ovarian cancer (OvCa) outcome in the context of the chemotherapy regimen used. In 134 frozen OvCa samples, we assessed EMSY mRNA expression with Reverse Transcription-quantitative PCR, and also investigated the EMSY gene sequence using SSCP and/or PCR-sequencing. Clinical relevance of changes in EMSY mRNA expression and DNA sequence was evaluated in two subgroups treated with either taxane/platinum (TP, n=102) or platinum/cyclophosphamide (PC, n=32). High EMSY expression negatively affected overall survival (OS), disease-free survival (DFS) and sensitivity to treatment (PS) in the TP-treated subgroup (p-values: 0.001, 0.002 and 0.010, respectively). Accordingly, our OvCa cell line studies showed that the EMSY gene knockdown sensitized A2780 and IGROV1 cells to paclitaxel. Interestingly, EMSY mRNA expression in surviving cells was similar as in the control cells. Additionally, we identified 24 sequence alterations in the EMSY gene, including the previously undescribed: c.720G>C, p.(Lys240Asn); c.1860G>A, p.(Lys620Lys); c.246-76A>G; c.421+68A>C. In the PC-treated subgroup, a heterozygous genotype comprising five SNPs (rs4300410, rs3814711, rs4245443, rs2508740, rs2513523) negatively correlated with OS (p-value=0.009). The same SNPs exhibited adverse borderline associations with PS in the TP-treated subgroup. This is the first study providing evidence that high EMSY mRNA expression is a negative prognostic and predictive factor in OvCa patients treated with TP, and that the clinical outcome may hinge on certain SNPs in the EMSY gene as well.

Buschke - Loewenstein tumor resection with simultaneous reconstruction of extensive tissue losses: case report.

BACKGROUND: Giant condyloma acuminatum or Buschke - Loewenstein tumor is a very rare disease usually located in the genital, anorectal, and perianal regions. It is locally invasive but in mostly cases displays a benign cytology on preoperative tissue sampling. Because of its low incidence little is known about treatment outcomes. Complete surgical excision is the treatment of choice. Different surgical methods have been applied to reach curability. To our knowledge such an advanced sized tumors in this localization has only been reported few times before with different surgical techniques being applied. CASE PRESENTATION: We describe a case of 56 years old female with 20 years persisting condyloma acuminatum progressing to a very huge dimensions perianal Buschke-Lowenstein tumor with one of the widest excision in the literature without the need for diverting stoma. The tumor size and its location determined the choice of treatment option and suspected prognosis for the patient outcome. Treatment was impeded by patient's malnutrition. The giant Buschke - Loewenstein tumor was resected from the anus, perineum and gluteal areas. The large tissue losses were simultaneously covered with rotational skin and fatty subcutaneous tissue flaps, mobilized from neighboring gluteal and femoral areas. The circumferential part of the anal canal was covered with skin grafted from the mentioned flaps and it was attached to the anal mucosa. No protective stoma was formed. Despite temporary problems with healing of the covering skin flaps, full permanent coverage of the resection site has been achieved. Anal canal function has also improved within the time. CONCLUSION: The patient with BLT must be very carefully clinical and imagistic investigated in order to detect the tumor visceral invasion and to establish the extension of the surgical procedure. There exists an extensive and time-consuming surgical procedure which allows to remove the giant anorectal Buschke - Loewenstein tumors with good function of the anorectum and without the necessity of diverting stoma creation.

A Prospective, Descriptive Study to Assess the Effect of Dietary and Pharmacological Strategies to Manage Constipation in Patients with a Stoma.

The term constipation with regard to patients with a stoma is defined as impaired bowel movements associated with increased stool consistency or long periods without bowel movements that lead to discomfort, flatulence, and abdominal pain. Information about constipation in patients with a stoma is limited. A prospective, descriptive study was conducted among patients attending ostomy and proctology outpatient clinics in Poznan, Poland between January 2011 and December 2014 to assess the role of dietary and pharmacological strategies in the management of constipation in patients with a stoma. Patients were included if they experienced a 3-day period without bowel movements leading to abdominal discomfort and bloating. Patients who were terminally ill from neoplastic disease or could not provide informed consent for study participation were not eligible to participate. Patients underwent 3 evaluations 3 months apart: the first assessed problems with passing stool through the stoma, at which time patients were told to increase fiber and fluid intake. During the next 2 visits, patients were asked if their symptoms had improved. If dietary changes were not successful, first-line pharmacological interventions were suggested (laxatives, osmotic agents, and probiotics). If no improvement was reported during the third assessment, second line pharmacologic therapy (eg, stimulant laxatives) were prescribed. Of the 405 patients initially assessed for participation, 331 met the initial screening criteria and were scheduled for followup. Of those, 93 (28%) had constipation; 50 (15%) required a surgical referral for morphological stoma changes and 43 (12.9%) met the study inclusion criteria for dietary recommendations. Almost all (42) had a colostomy and most (28) had a history of stoma creation due to diverticular disease. Twenty-five (25) men and 18 women (average age 55.9 ± 9.3 years) received dietary recommendations during the first visit. Diet modifications were effective and sufficient to resolve the problem with constipation in more than half (24) of the patients. Among the remaining 19 patients, only 2 did not improve after using first-line or second-line pharmacological management strategies. One patient required emergency surgery due to complicated colonic diverticulosis (perforation). The results of this study suggest constipation among patients with a stoma can be associated with morphological stoma changes and in the absence of morphologic changes the majority of patients respond well to a change in diet. Additional studies are needed to increase understanding about the incidence and optimal management strategies of constipation in persons with a stoma.

The impact of the nutritional state of patients on the results of the surgical treatment of ulcerative colitis.

UNLABELLED: A variety of mechanisms have been proposed to explain the malnutrition and body mass loss in UC patients. The aim of the study trial was a nutritional state assessment of 347 UC patients, admitted for surgical treatment, and the evaluation of the impact of this state on the postoperative course in this group of patients. MATERIAL AND METHODS: We referred the results of nutritional state assessment to the length of time of postoperative hospitalization of patients. RESULTS: Through application of the Kruskal-Wallis test we found statistically significant, but weakly expressed, differences between the values of nutritional state parameters and period of hospitalization of patients. The applied U Mann-Whitney test, with statistically significant results with p <0.05, showed statistically significant differences between cured and dead subgroups in: 1) loss of body mass in 6 months before hospitalization (p = 0.000033), 2) hemoglobin level (p = 0.006676), 3) total lymphocyte count (TLC) (p = 0.025242), 4) total serum protein level (p = 0.003485), 5) serum albumin level (p =0.00165). Differences in BMI values were statistically negligible (p = 0.969397). CONCLUSIONS: The body mass loss in 6 months before admission, total lymphocyte count and serum albumin level are the reference parameters of the nutritional state of UC patients on admission to surgery.

The impact of the nutritional state of patients on the results of the surgical treatment of Crohn's disease.

UNLABELLED: Crohn's disease (CD) patients are qualified for surgery in the acute phase of the disease or after ineffective medical therapy. The course of the disease and the medical treatment received to that point weaken the general state of patients, with that they also cause undernutrition. THE AIM OF THE STUDY: The assessment of the nutritional state of 168 CD patients, admitted for surgery and the evaluation of the influence of this state on the postoperative course. MATERIAL AND METHODS: We referred the results of the nutritional state assessment to the time of the postoperative hospitalization of patients. RESULTS: Applying the Kruskal-Wallis test we found statistically significant, but weakly expressed, differences between the values of nutritional state parameters and period of hospitalization of patients. The applied U Mann-Whitney test, with statistically significant results with p <0.05, showed that no one parameter of the nutritional state of patients expressed a statistically significant difference between dead and recovered groups. CONCLUSIONS: We propose the body mass loss in the 6 months period before admission, TLC and serum albumin level as parameters which well detect undernutrition in CD patients presenting for surgery.