Profile of common prostate cancer risk variants in an unscreened Romanian population.

To find sequence variants affecting prostate cancer (PCA) susceptibility in an unscreened Romanian population we use a genome-wide association study (GWAS). The study population included 990 unrelated pathologically confirmed PCA cases and 1034 male controls. DNA was genotyped using Illumina SNP arrays, and 24.295.558 variants were imputed using the 1000 Genomes data set. An association test was performed between the imputed markers and PCA. A systematic literature review for variants associated with PCA risk identified 115 unique variants that were tested in the Romanian sample set. Thirty of the previously reported SNPs replicated (P-value < 0.05), with the strongest associations observed at: 8q24.21, 11q13.3, 6q25.3, 5p15.33, 22q13.2, 17q12 and 3q13.2. The replicated variants showing the most significant association in Romania are rs1016343 at 8q24.21 (P = 2.2 × 10-4 ), rs7929962 at 11q13.3 (P = 2.7 × 10-4 ) and rs9364554 at 6q25.2 (P = 4.7 × 10-4 ). None of the variants tested in the Romanian GWAS reached genome-wide significance (P-value <5 × 10-8 ) but 807 markers had P-values <1 × 10-4 . Here, we report the results of the first GWAS of PCA performed in a Romanian population. Our study provides evidence that a substantial fraction of previously validated PCA variants associate with risk in this unscreened Romanian population.

Identification of Lynch syndrome risk variants in the Romanian population.

Two familial forms of colorectal cancer (CRC), Lynch syndrome (LS) and familial adenomatous polyposis (FAP), are caused by rare mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6, PMS2) and the genes APC and MUTYH, respectively. No information is available on the presence of high-risk CRC mutations in the Romanian population. We performed whole-genome sequencing of 61 Romanian CRC cases with a family history of cancer and/or early onset of disease, focusing the analysis on candidate variants in the LS and FAP genes. The frequencies of all candidate variants were assessed in a cohort of 688 CRC cases and 4567 controls. Immunohistochemical (IHC) staining for MLH1, MSH2, MSH6, and PMS2 was performed on tumour tissue. We identified 11 candidate variants in 11 cases; six variants in MLH1, one in MSH6, one in PMS2, and three in APC. Combining information on the predicted impact of the variants on the proteins, IHC results and previous reports, we found three novel pathogenic variants (MLH1:p.Lys84ThrfsTer4, MLH1:p.Ala586CysfsTer7, PMS2:p.Arg211ThrfsTer38), and two novel variants that are unlikely to be pathogenic. Also, we confirmed three previously published pathogenic LS variants and suggest to reclassify a previously reported variant of uncertain significance to pathogenic (MLH1:c.1559-1G>C).

Arteriovenous Fistula: The Case of a Rare Complication after Minimal Percutaneous Nephrostomy and Brief Review.

Percutaneous renal surgery, although much less invasive than other procedures, is subject to several complications, which can occur at any time during the course of treatment, starting from the performance of the minimal nephrostomy procedure. We present an extremely rare vascular complication of percutaneous nephrostomy represented by arteriovenous fistula that occurred in a 24-year-old patient known to have right ureteropelvic junction obstruction operated with the absence of double-J catheter permeability and grade II-III hydronephrosis for which minimal percutaneous nephrostomy was urgently fitted. The arteriovenous fistula was resolved by supraselective artery embolization.

Xanthogranulomatous Pyelonephritis Caused by Stenotrophomonas maltophilia-The First Case Report and Brief Review.

Xanthogranulomatous pyelonephritis (XGP) represents a rare and severe pathology secondary to chronic urinary obstruction and recurrent infections. Commonly, this condition leads to loss of kidney function, and frequently, surgical approach is the only optional treatment. Proteus mirabilis and Escherichia coli are the most frequent pathogens associated with XGP. The actual changes in the pathogen's characteristics increased the risk of newly acquired infections once considered opportunistic. Stenotrophomonas malthophilia is one of those agents more related to immunocompromised patients, presenting an increased incidence and modified antibiotic resistance profile in the modern era. This case report presents a healthy female patient with an underlying renal stone pathology diagnosed with XGP related to S. maltophilia urinary infection. After a complete biological and imagistic evaluation, the case was treated as pyonephrosis. Empirical antibiotic administration and a surgical approach were considered. A total nephrectomy was performed, but the patient's condition did not improve. The patient's status improved when specific antibiotics were administered based on the bacterial identification and antibiotic susceptibility pattern of drained perinephric fluid. Levofloxacin and Vancomycin were considered the optimal combination in this case. The histopathological examination revealed XGP secondary to chronic renal stone. The present study describes the first case of XGP related to an aerobic Gram-negative pathogen such as S. maltophilia, once considered opportunistic, in an apparently healthy female adult.

Adapting surgical 'bundles' to prevent surgical site infections in obstetrics and gynecology (Review).

Surgical site infections (SSIs) are a complication in any surgical field and they are responsible for 38% of surgery-related patient deaths. Identifying appropriate prophylaxis and solutions to combat SSIs is of global interest. Several studies and reports on SSI raise awareness of this costly complication, both in terms of physical and mental suffering, and as a monetary burden. Knowing the risk factors and implementing strategies to reduce SSI risk represent an adequate approach to reduce SSI incidence. General risk factors of SSI are applicable in the obstetrics and gynecology field, alongside its specific characteristics, including immunological changes occurring during pregnancy, as well as disturbances of vaginal microbiota. The risk of SSI is determined by patient factors but also by preoperative, intraoperative and postoperative care. 'Bundle' prevention strategies have been smartly adopted and their efficiency has been demonstrated in colorectal surgery, cesarean deliveries and gynecological oncology surgeries. 'Bundle' measures may vary among studies, but they remain important prevention methods, which contribute to decreasing SSIs, which is a favorable outcome, and thus, are increasingly used as a routine practice. Therefore, healthcare personnel should aim for the early identification of risk factors to minimize the risk of SSI. All evidence-based methods for preventing and treating SSIs in all surgical fields should be considered to be integral components in order for the best care to be provided to patients.