Long-term psychosexual adjustment of adults born with classic bladder exstrophy.

Background: In literature studies exploring long-term psychosexual development and intimacy of adults living with the complex genitourinary conditions associated with classic bladder exstrophy (BE) are scarce, with small sample sizes and lacking in methodology.

Objective: This study aims to examine areas of potential psychosexual distress in adults born with classic BE to develop targeted clinical interventions.

Study Design: The validated Sexrelation Evaluation Schedule Assessment Monitoring (SESAMO) questionnaire was administered to all BE patients aged ≥18 years operated on in our tertiary referral center during infancy.

Pharmacological Interventions in Paraphilic Disorders: Systematic Review and Insights.

(1) : Paraphilic disorders, marked by intense sexual fantasies and behaviors, present formidable challenges. This review addresses concerns fueled by scandals and child abuse. Emphasizing paraphilias' complexity, it systematically reviews the pharmacotherapy literature, aiming to enhance understanding and guide future research.

Validation of the Italian version of the Peyronie's Disease Questionnaire (PDQ).

Peyronie's disease (PD) is a connective tissue disorder characterized by the formation of fibrous plaques in the tunica albuginea of the penis which can result in pain, deformity and erectile dysfunction (ED). The Peyronie's Disease Questionnaire (PDQ) assesses the severity of symptoms, including pain, penile curvature and ED, as well as the impact on sexual function, emotional well-being, and overall quality of life of PD patients. Previous studies validated the PDQ in languages other than English and confirmed its test-retest reliability and clinical utility.

A Unique Case of Inflatable Penile Prosthesis (IPP) Implantation and Mesh Phalloplasty in a Patient Born with Congenital Fusiform Megalourethra.

We present the first case of a patient born with congenital fusiform megalourethra who underwent the successful placement of an inflatable penile prosthesis (IPP) and mesh phalloplasty due to primary erectile dysfunction (ED). After an extensive psychosexual assessment and a preoperative MRI scan, an IPP was successfully implanted. The procedure was carried out through a penoscrotal approach, which offered excellent exposure to the crura and the proximal ends of the corpora cavernosa.

A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy.

Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic bladder exstrophy, but were limited to a restrict number of cohort. Here we show the largest classic bladder exstrophy genome-wide association analysis to date where we identify eight genome-wide significant loci, seven of which are novel.

Substitution Phalloplasty in Patients With Bladder Exstrophy-Epispadias Complex: A Systematic Review of Techniques, Complications and Outcomes.

Background: Males born with bladder exstrophy-epispadias complex generally have a shorter phallus, split corpora with dorsal curvature, and a scarred and flattened glans, so substitution phalloplasty is often required.

Aim: The aim of this study was to review the techniques, complications, and outcomes of substitution phalloplasty in bladder exstrophy-epispadias complex patients to determine the ideal surgical procedure and gauge the risks and benefits for the patient.

Methods: A systematic review of the literature was performed using PubMed/MEDLINE and the Cochrane Library with the following terms: ("phalloplasty"); (("epispadias") OR ("bladder exstrophy") OR ("cloacal exstrophy")).

Ovotesticular differences of sex development: male or female? Case series.

Background: The choice of the sex of rearing in patients with ovotesticular differences of sex development (OT-DSD) is difficult. The final decision should be given by the patient himself or herself, but families' opinion is not to neglect especially when the diagnosis is precocious and the patient can't give the consent to medical or surgical procedures. How should we behave if the parents refuse to raise a child with genital ambiguity?

Case Presentation: We describe and comment on our multidisciplinary approach in three patients with neonatal diagnosis of OT-DSD.

Voiceless disability: A worth case of bilateral infrainguinal testicular torsion in a patient with cerebropalsy.

Introduction: A fast surgical treatment is the gold standard when a testicular torsion is diagnosed.However, an early diagnosis of torsion may not be feasible in case of torsion associated with undescended testis in the patients affected by cerebropalsy.

Case Presentation: A Bolivian 16 year old male with acquired cerebropalsy and spastic neuromuscular disease was admitted to our Institute for a right inguinal swelling observed by the father in the morning.

Surgery for distal hypospadias: what about the catheter?

No agreed recommendations exist for timing of urethral stent removal, after distal hypospadias surgery. We compared our preliminary case series with outcomes from literature: 18/44 patients were treated with catheter and 26/44 without it. The surgical outcome was comparable in the two groups.

ISL1 is a major susceptibility gene for classic bladder exstrophy and a regulator of urinary tract development.

Previously genome-wide association methods in patients with classic bladder exstrophy (CBE) found association with ISL1, a master control gene expressed in pericloacal mesenchyme. This study sought to further explore the genetics in a larger set of patients following-up on the most promising genomic regions previously reported. Genotypes of 12 markers obtained from 268 CBE patients of Australian, British, German Italian, Spanish and Swedish origin and 1,354 ethnically matched controls and from 92 CBE case-parent trios from North America were analysed.

Qualitative questionnaire on the psychosocial wellbeing of mothers of children with BEEC.

Introduction: The bladder exstrophy-epispadias complex (BEEC) represents a spectrum of malformations that affect the anatomical and functional structure of the urogenital system. The parents of patients affected by this condition are subject to particularly stressful situations, such as worrying about their child's health, long hospital stays, concerns about the health and constant need for personal care for their children, that can profoundly compromise the quality of family life.

Objective: The objective of this explorative qualitative study is to evaluate the social situation and the psychological strategies implemented by the mothers of children between 6 and 10 years of age who are affected by BEEC.

When a lymphatic malformation determines a bowel volvulus: Are clinical status and images always reliable?

Introduction: An acute abdomen in the form of small-bowel volvulus could be a presentation of a lymphatic malformation in childhood.

Case Presentation: A 5year old male was admitted to our Institute for an acute abdomen. Clinical aspects and radiological images were not specific for a certain diagnosis.

CNV analysis in 169 patients with bladder exstrophy-epispadias complex.

Background: The bladder exstrophy-epispadias complex (BEEC) represents the severe end of the congenital uro-rectal malformation spectrum. Initial studies have implicated rare copy number variations (CNVs), including recurrent duplications of chromosomal region 22q11.21, in BEEC etiology.

Perforated appendix with abscess: Immediate or interval appendectomy? Some examples to explain our choice.

Introduction: There are no clear guidelines in the treatment of a perforated appendicitis associated with periappendiceal abscess without generalized peritonitis.

Presentation Of Cases: We retrospectively studied six examples of treated children in order to discuss the reasons of our team's therapeutic approach. Some children were treated with a conservative antibiotic therapy to solve acute abdomen pain, planning a routine interval appendectomy after some months.

Informative nursery rhymes: a pilot study of children's satisfaction.

Background: The aim of this study was to assess, by means of a questionnaire, the level of children's satisfaction relating to three informative charts, including a nursery rhyme, administered to the patient before a medical procedure.

Methods: We created three types of specific informative charts on three medical topics with the double function of informing the child before the medical procedure, and of distracting him/her by means of a nursery rhyme read aloud by the authors. To assess the level of children's satisfaction, we administered the patients a questionnaire.