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The study results showed that laparoscopic colorectal segment resection for endometriosis had a positive impact on QOL in this patient group. The positive effects persisted 1 year after surgery.

Introduction Intestinal endometriosis is considered the most severe form of deep endometriosis, the rectosigmoid being involved in about 90% of cases of bowel infiltration. Transvaginal sonography (TVS) and magnetic resonance imaging (MRI) have been used for noninvasive diagnosis and preoperative mapping of rectosigmoid endometriosis (RE), but no consensus has been reached so far regarding which method is the most accurate in this setting. Objective We aimed at performing a systematic review and meta-analysis to compare the accuracy of TVS versus MRI in the diagnosis of RE in a same population. Methods A systematic review was conducted in accordance with the PRISMA guidelines. Studies were identified by searching the MEDLINE, Embase, and LILACS databases, as well the reference lists of retrieved articles, through February 2019. We included all cross-sectional studies that evaluated the accuracy of TVS versus MRI in the diagnosis of RE within a same sample of subjects and that used surgical findings with histological confirmation as the gold standard. The QUADAS-2 instrument was used to evaluate study quality. Sensitivity, specificity, positive likelihood ratios (LR+), and negative likelihood ratios (LR-) for the diagnosis of RE were calculated. This study is registered with PROSPERO, number CRD42017064378. Results Eight studies ( n = 1132) were included in the meta-analysis. The pooled sensitivity, specificity, LR+, and LR- values of MRI for RE were 90% (95% CI, 87–92%), 96% (95% CI, 94–97%), 17.26 (95% CI, 3.57–83.50), and 0.15 (95% CI, 0.10–0.23); values of TVS were 90% [95% CI, 87–92%], 96% (95% CI, 94–97%), 20.66 (95% CI, 8.71–49.00) and 0.12 (95% CI, 0.08–0.20), respectively. Areas under the S-ROC curves (AUC) showed no statistically significant differences between MRI (AUC = 0.948) and TVS (AUC = 0.930) in the diagnosis of RE ( P = 0.13). Moreover, considering the average prevalence among the studies of 47.3%, both methods demonstrated similarly high positive post-test probabilities (93.9% for TVS and 94.8% for MRI), and the combined use of them yielded a post-test probability of 99.6%. Conclusion MRI and TVS have similarly high accuracy and positive post-test probabilities in the noninvasive diagnosis of RE. Combination of MRI and TVS may increase even further the positive post-test probabilities to near 100%.

Nephrogenic diabetes insipidus (NDI) is an inherited disorder characterized by renal resistance to the antidiuretic effect of arginine vasopressin (AVP), resulting in polyuria, polydipsia, and hypoosmolar urine. In the vast majority of cases, NDI is associated with germ-line mutations in the vasopressin receptor type 2 gene (AVPR2) and in about 8% of the cases with the water channel aquaporin-2 gene (AQP-2) mutations. To date, approximately 277 families with 185 germ-line mutations in the AVPR2 gene have been described worldwide. In the present study, the AVPR2 gene was genotyped in eight unrelated Brazilian kindred with NDI. In five of these NDI families, novel mutations were noted (S54R, I130L, S187R, 219delT, and R230P), whereas three seemingly unrelated probands were found to harbor previously described AVPR2 gene mutations (R106C, R137H, R337X). Additionally a novel polymorphism (V281V) was detected. In conclusion, although NDI is a rare disease, the findings of mutations scattered over the entire coding region of the AVPR2 gene are a valuable model to determine structure function relationship in G-protein-coupled receptor related diseases. Furthermore, our data indicate that in Brazil the spectrum of AVPR2 gene mutations is "family specific".