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OBJECTIVE: We provide a review of the literature about the Androgen Insensitivity Syndrome (AIS), its onset and associated developmental anomalies and the genetic alterations causing it. MATERIALS AND METHODS: We searched PubMed with a larger emphasis on the physiology, genetics and current management of AIS. RESULTS: AIS is an X-linked recessive Disorder of Sex Development (DSD). It is caused by mutations of the Androgen Receptor, and their large amount and heterogeneity (missense and nonsense mutations, splicing variants, deletions, and insertions) are responsible for the wide spectrum of possible phenotypes of patients, divided into Partial AIS (PAIS) and Complete AIS (CAIS). Once the clinical and laboratory investigations have laid the foundation for a diagnostic hypothesis, it is important to identify the actual karyotype of the individual and search for the mutation in the Androgen Receptor to diagnose with certainty the syndrome. Alternatively, in the absence of such evidence, the diagnosis should more properly be an AIS-like condition, which we describe as well in our report. CONCLUSIONS: The management of this DSD is based on pharmacotherapies, surgery and psychological support: all of them must be directed to facilitate the patient's life, considering his/her sexual identity. [ABSTRACT FROM AUTHOR]

OBJECTIVE: Vesicoureteral reflux (VUR) affects up to 1% of Caucasian children. Primary VUR is characterized by failure of the ureterovesicular junction to prevent urine from traveling in a retrograde fashion from the bladder to the ureters and the kidneys. Several reports in the literature describe the prevalence of this condition in pediatric patients; overall, VUR affects more males during infancy and with higher grades. However, a thorough consideration of these articles reveals important contradictions regarding the prevalence by gender and age. We analyzed those contradictions and suggested a possible explanation based on our single center experience with this patient group. In particular, for the age interval 0-2 years: we have found that (1) VUR mostly affects boys; (2) the male/female ratio steadily declines over time; (3) the unequal prevalence between males and females essentially disappears when children reach the age of two years. CONCLUSIONS: The natural history of VUR in infant boys differs from that of infant girls, and therefore requires a gender-specific approach. Available data support the need to redefine the categorization and clinical guidelines for this disease. [ABSTRACT FROM AUTHOR]

Y RNA are a class of small non-coding RNA that are largely conserved. Although their discovery was almost 40 years ago, their function is still under investigation. This is evident in cancer biology, where their role was first studied just a dozen years ago. Since then, only a few contributions were published, mostly scattered across different tumor types and, in some cases, also suffering from methodological limitations. Nonetheless, these sparse data may be used to make some estimations and suggest routes to better understand the role of Y RNA in cancer formation and characterization. Here we summarize the current knowledge about Y RNA in multiple types of cancer, also including a paragraph about tumors that might be included in this list in the future, if more evidence becomes available. The picture arising indicates that Y RNA might be useful in tumor characterization, also relying on non-invasive methods, such as the analysis of the content of extracellular vesicles (EV) that are retrieved from blood plasma and other bodily fluids. Due to the established role of Y RNA in DNA replication, it is possible to hypothesize their therapeutic targeting to inhibit cell proliferation in oncological patients.

Non-coding RNAs (ncRNAs) are involved in the regulation of cell metabolism and neoplastic transformation. Recent studies have tried to clarify the significance of these information carriers in the genesis and progression of various cancers and their use as biomarkers for the disease; possible targets for the inhibition of growth and invasion by the neoplastic cells have been suggested. The significance of ncRNAs in lung cancer, bladder cancer, kidney cancer, and melanoma has been amply investigated with important results. Recently, the role of long non-coding RNAs (lncRNAs) has also been included in cancer studies. Studies on the relation between endometrial cancer (EC) and ncRNAs, such as small ncRNAs or micro RNAs (miRNAs), transfer RNAs (tRNAs), ribosomal RNAs (rRNAs), antisense RNAs (asRNAs), small nuclear RNAs (snRNAs), Piwi-interacting RNAs (piRNAs), small nucleolar RNAs (snoRNAs), competing endogenous RNAs (ceRNAs), lncRNAs, and long intergenic ncRNAs (lincRNAs) have been published. The recent literature produced in the last three years was extracted from PubMed by two independent readers, which was then selected for the possible relation between ncRNAs, oncogenesis in general, and EC in particular., Competing Interests: The authors declare no conflict of interest.

According to data of the International Agency for Research on Cancer and the World Health Organization (Cancer Incidence in Five Continents, GLOBOCAN, and the World Health Organization Mortality), bladder is among the top ten body locations of cancer globally, with the highest incidence rates reported in Southern and Western Europe, North America, Northern Africa and Western Asia. Males (M) are more vulnerable to this disease than females (F), despite ample frequency variations in different countries, with a M:F ratio of 4.1:1 for incidence and 3.6:1 for mortality, worldwide. For a long time, bladder cancer was genetically classified through mutations of two genes, fibroblast growth factor receptor 3 ( FGFR3 , for low-grade, non-invasive papillary tumors) and tumor protein P53 (TP53, for high-grade, muscle-invasive tumors). However, more recently scientists have shown that this disease is far more complex, since genes directly involved are more than 150; so far, it has been described that altered gene expression (up- or down-regulation) may be present for up to 500 coding sequences in low-grade and up to 2300 in high-grade tumors. Non-coding RNAs are essential to explain, at least partially, this ample dysregulation. In this review, we summarize the present knowledge about long and short non-coding RNAs that have been linked to bladder cancer etiology., Competing Interests: The authors declare no conflict of interest.

Background: Large use of allogeneic red blood cell concentrates (RBCc), albeit necessary in major surgery, may influence patients' outcome., Design and Methods: We introduced an integrated strategy including patients' evaluation and supplementation associated with autologous blood collection and saving to support major elective surgery at our hospital since 2008. After 2 years of stabilization of this approach, we analyzed the results obtained in 2010 in terms of allogeneic blood usage and reduction of transfusion of stored RBCc., Results: Analyzing 2010 results we found that usage of total autologous RBCc units was increased by 2.2 folds, of "not stored" autologous RBCc units by 2.4 folds and of allogeneic RBCc unit transfusion reduced by 65%. The significant reduction in the number of transfused allogeneic RBCc units associated with the use of "fresher" blood could prevent patients' complications due to immunomodulation and biologic/metabolic disregulation., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Objectives: To report our 8-year experience with buccal mucosa onlay urethroplasty with the dorsal approach in the treatment of bulbar urethral strictures. The buccal mucosal graft is widely used as an effective option for urethral reconstruction., Methods: Since June 1994, we have treated 65 patients with bulbar urethral strictures with buccal mucosa urethroplasty. A free graft of buccal mucosa was used as a ventral onlay in 9 patients and as a dorsal onlay in the remaining 56 patients. The bulbar urethra was isolated from the corpora. Endoscopic urethrotomy was performed dorsally. The graft was obtained from the lower lip and sutured to the urethra and corpora cavernosa. A transurethral grooved catheter and suprapubic drainage was maintained for 7 and 14 days, respectively., Results: The median follow-up was 41 months (range 6 to 94). The overall recurrence rate was 3% (2 of 65). One recurrence occurred in a ventral onlay patient and one in a dorsal onlay patient. Minor complications occurred in 9 patients (14%)., Conclusions: Buccal mucosa dorsal onlay urethroplasty is an excellent option for the treatment of bulbar urethral strictures.

Purpose: We report the results of urethroplasty with a free graft of buccal mucosa as a dorsal onlay for the treatment of bulbar urethral strictures., Materials and Methods: Since June 1994, 30 patients with bulbar urethral strictures have been treated with buccal mucosa urethroplasty. Urethroplasty was performed with a free graft of buccal mucosa using a ventral onlay in the first 7 patients and a dorsal onlay in 23. Dorsal urethrotomy was performed with a Sachse urethrotome after the bulbar urethra was separated from the corpora. The buccal mucosa onlay was sutured to the urethra and corpora cavernosa to ensure a patent urethra., Results: At 20-month followup (range 3 to 50) the success rate was 96% (29 of 30 patients). Urethral stricture recurred in only 1 of 7 patients in the ventral onlay and none of 23 in the dorsal onlay group., Conclusions: Preliminary results of urethroplasty for bulbar urethral strictures with a dorsal onlay graft of buccal mucosa are excellent. Longer followup is needed to evaluate definitive results.

Between January 1988 and December 1995 48 orthotopic detubularized and reconfigured ileal neobladder were carried out with two distinct surgical procedures in the same Hospital. 33 underwent lower urinary tract reconstruction using Studer's technique with an afferent ileal tubular isoperistaltic segment; in 15 patients the ileal substitution of the bladder was performed with Paduan ileal bladder (VIP). In any case an ileal low pressure reservoir was obtained with similar functional capacity (400 ml. at the urodynamic control), as using the same length of ileum (40 cm) for the reconstruction of the reservoir itself. In order to other functional aspects (e.g. diurnal and nocturnal continence) results were analogous if a correct rehabilitation program was observed. Significant post-voiding residual and late neobladder decompensation was prevented with adequate mictional training. Early and late complications (globally 19-24%) were evaluated: strictures of ureteroileal and ileo-urethral anastomoses were rare; an ileoureteral reflux was observed at a cystographic control in 50% of Studer group, but never clinically significant and only in 20% of VIPs. No clinically significant metabolic changes were found. Survival was satisfactory at a mean follow-up of 48 months.