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Background and Aim: Congenital malformations such as oesophageal atresia (OA) and tracheoesophageal fistula (TOF), congenital pulmonary airway malformations (CPAMs), congenital diaphragmatic hernia (CDH) and vascular rings (VRs) can affect lung development and respiratory function. This observational study describes our multidisciplinary approach and respiratory follow-up of children with such congenital malformations., Methods: Clinical data of children followed at the Pediatric Respiratory Unit of Parma University Hospital (Italy) between January 2015 and January 2020 were collected.  Results. Twenty-three patients with congenital malformation affecting lung development were identified. Almost half of our patients were diagnosed with fetal ultrasound.  Children attended the clinic at a mean age of 3 (3.7) years and follow-up visits were scheduled every 6 months average. More than half of our patients were hospitalized for lower respiratory tract infections. Six out of 9 children able to perform spirometry showed anomalies in lung function. Chest physiotherapy was recommended especially in children with OA., Conclusions: Children with congenital malformations affecting lung development are at risk of short and long-term respiratory complications, especially in the first years of life. OA was the malformation more associated to respiratory problems. Multidisciplinary approach and appropriate personalized follow-up are recommended for the best management of these children.   Abstract word count: 186.

Introduction: Intraoperative endoscopy is a procedure that supports open and laparoscopic surgery, helping the surgeon to identify the presence of endoluminal gastrointestinal lesions which need to be treated, with a correct diagnosis and an adequate therapy., Material and Methods: A search on PubMed was performed using "intraoperative esophagoscopy", "intraoperative duodenoscopy", and "intraoperative enteroscopy" as Mesh terms. The applied exclusion criteria were: papers written before 2000, not concerning pediatric or gastrointestinal pathology, literature-review articles, language different from English., Results: Sixteen studies from 2000 to 2018 were included. Overall, 1210 patients were treated. Different pathologies were considered. Complications were observed in a range of 0.3-14%. The most frequent complications were perforation, bleeding and mucosal tear. Mortality ranged between 0.7% and 1,2%., Conclusion: Intraoperative endoscopy is an indispensable tool for gastrointestinal surgery. In the hands of experienced endoscopists, intraoperative endoscopy can be performed safely, in time-efficient manner, facilitating diagnosis and treatment.

Background: The DiGeorge syndrome, the most common of the microdeletion syndromes, affects multiple organs, including the heart, the nervous system, and the kidney. It is caused by deletions on chromosome 22q11.2; the genetic driver of the kidney defects is unknown., Methods: We conducted a genomewide search for structural variants in two cohorts: 2080 patients with congenital kidney and urinary tract anomalies and 22,094 controls. We performed exome and targeted resequencing in samples obtained from 586 additional patients with congenital kidney anomalies. We also carried out functional studies using zebrafish and mice., Results: We identified heterozygous deletions of 22q11.2 in 1.1% of the patients with congenital kidney anomalies and in 0.01% of population controls (odds ratio, 81.5; P=4.5×10 -14 ). We localized the main drivers of renal disease in the DiGeorge syndrome to a 370-kb region containing nine genes. In zebrafish embryos, an induced loss of function in snap29, aifm3, and crkl resulted in renal defects; the loss of crkl alone was sufficient to induce defects. Five of 586 patients with congenital urinary anomalies had newly identified, heterozygous protein-altering variants, including a premature termination codon, in CRKL. The inactivation of Crkl in the mouse model induced developmental defects similar to those observed in patients with congenital urinary anomalies., Conclusions: We identified a recurrent 370-kb deletion at the 22q11.2 locus as a driver of kidney defects in the DiGeorge syndrome and in sporadic congenital kidney and urinary tract anomalies. Of the nine genes at this locus, SNAP29, AIFM3, and CRKL appear to be critical to the phenotype, with haploinsufficiency of CRKL emerging as the main genetic driver. (Funded by the National Institutes of Health and others.).

Purpose: We aimed at investigating bowel function in children and adolescents with anorectal malformations (ARMs) and assess their quality of life (QoL), in order to define a personal program of bowel management improving both clinical condition and self-confidence., Methods: A total of 55 patients treated for ARM by Posterior Sagittal Ano-Recto-Plasty (PSARP) from 2000 to 2014 were included into the study. The parents of 41 patients answered two telephone questionnaires about the parents' self-efficacy and about QoL (GIQLI). A modified Peña score system was used to evaluate intestinal function. Twenty patients underwent anorectal manometry. After clinical assessment, all patients underwent an individual bowel management program. A median follow-up of 91.3 months was performed., Results: A significant inverse correlation was found between Peña score and GIQLI (r:-0.93, p<0.0001). Anorectal manometry paralleled the Peña score, showing an association between megarectum and constipation and soiling subdomains, especially in patients with higher ARM. Patients who carefully followed the bowel management program had significant improvements in both continence (0.93±1.1 vs 0.45±0.9, p=0.0005) and Peña score (4.6±3 vs 3.4±2.5, p<0.0001), which positively affected their self-confidence (100±26.6 vs 110±23, p<0.0001)., Conclusions: The synergy of different scores and the evaluation of anorectal physiology proved useful to define the bowel management program, which seems to significantly impact both bowel function and QoL, with specific regard to soiling. Moreover, the Peña score might be also quantitatively used, as it parallels with both anorectal manometry and GIQLI, and the latter seems to be suitable for children. Further studies are required to confirm our findings.

Background and Aim of the Work: Vesicoureteric reflux is the most common uropathy in paediatric age. It may be treated with open surgery, antibiotic therapy or endoscopic injection. The purpose of this work is to determine outcomes and experiences of parents with children who underwent endoscopic treatment for VUR., Materials and Methods: In a period of 5 years (from 2004 to 2009) 48 patients (20 boys and 28 girls, mean age 5,5, range 1-17) underwent endoscopic treatment for VUR. Sample included 31 cases of primary reflux (64,6%), 11 complex cases of VUR (6 duplex system, 3 duplex system with ureterocoele, 2 bladder exstrophy) and 6 children (12,5%) with VUR secondary to neurogenic bladder. All procedures were performed by the same surgeon. A questionnaire assessing experiences with endoscopic treatment was administered to all families., Results: Follow-up lasted from a minimum of 6 months to 5 years. Overall cure rate was 68,7% (33/48) per child after a single injection, a second injection performed in cases with VUR recurrence raised it to 81,2% (39/48 patients). Overall cure rate per grade of VUR was 60% (3/5) for grade I, 94,1% (16/17) for grade II, 86,9% (20/23) for grade III, 64,7% (11/17) for grade IV and 85,7% (6/7) for grade V. Minimal postoperative complications were recorded: 2,1% urinary tract obstruction, 12,5% macro-haematuria, 6,2% lumbar pain, 4,1% urinary retention or strangury. The results of the survey given to families were encouraging., Conclusions: Endoscopic treatment for VUR seems to be a feasible procedure as primary intervention.

Purpose: We examined sexuality and psychosocial functioning in patients with Mayer-Rokitansky-Kuster-Hauser syndrome who underwent colovaginoplasty., Materials and Methods: Patients who underwent colovaginoplasty for Mayer-Rokitansky-Kuster-Hauser syndrome in Italy and Bangladesh were required to meet certain criteria, including age greater than 18 years, college degree/high socioeconomic status, procedure done by the same surgical team and a minimum 6-year followup. Outcomes were evaluated by a retrospective chart review and an English version of the female sexual function index. Psychosocial functioning was measured by an English version of a 36-item survey, including the Rosenberg Self-Esteem Scale, Beck Depression Index and Cohen Test for Life Management ability with results compared to those in 30 healthy control subjects., Results: Of 40 patients who answered the female sexual function index 37% were married and 12% had adopted children while 40% were sexually active, 100% were attracted to males and 7% were on self-dilation. None required pads and 80% used a home douche. Of the patients 92% reported sexual desire and 87% reported sexual arousal. Sexual confidence and satisfaction were reported by approximately 90% of the patients and partner satisfaction was considered adequate by 93%. Most patients reported satisfactory orgasm. Of the women 89% reported adequate lubrication and none reported dyspareunia. Psychosocial functioning was not statistically different between patients and controls., Conclusions: Based on the scoring system outcome colovaginoplasty seems to be an excellent choice to manage vaginal agenesis and ensure good quality of general and sexual life., (Copyright © 2010 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.)

Purpose: We assessed sexual education and function of adults with spina bifida to identify predictors of relationships and sexual activity., Materials and Methods: A total of 290 patients with spina bifida were clustered into 6 groups based on lesion level, including men in group 1-less than L2, group 2-L3-L5 and group 3-less than S1, and women in group 4-greater than L2, group 5-L3-L5 and group 6-less than S1. Urinary continence, genital sensation and patient educational level were considered. A questionnaire on sexual education, relationship and sexual activity was administered., Results: No difference in the incontinence rate was noted between males and females. Men had learned sex education from friends/media (41.6%) and women had learned it from parents (37.5%) or at school (33.7%). Genital sensation was normal in 7.2%, 53.3% and 53.5% of the patients in groups 1 to 3, respectively. Patients in group 3 had more frequent sexual intercourse than those in group 1 or 2 (30% vs 14.3% and 14.2%, respectively). Genital sensation was decreased in group 4 patients compared to those in groups 5 and 6 (44.4% vs 13% and 3.5%, respectively). Patients in group 4 were more sexually active than those in groups 5 and 6 (p <0.05). Lesion level did not affect the ability to form relationships in patients of either gender. Education level was the same across all patients with no difference when male/female groups were compared by lesion level. Predictors indicated that patients with the highest chance of finding a partner and engaging in sexual activity were those with the lowest lesion level. However, all other predictors were statistically significant (p <0.05)., Conclusions: Sex counseling should be part of the regular medical care in patients with spina bifida. A difference exists between males and females when comparing lesion level and sexual activity.

Background and Aim of the Work: We report 17 years of experience in a missionary hospital with decreased facilities in Bangladesh. Our interest was directed at children with congenital malformations since they live in a society where the exclusion of abnormal children is common. A better treatment for these children offers them a better future., Materials and Methods: Bangladesh is among the most densely populated countries in the world: its population ranges from 142 to 159 million, and it is one of the poorest nations in the world. From 1991 to 2008 our Italian pediatric surgical team performed 17 5 weeks missions in a missionary hospital in Khulna, Bangladesh, during the months of January and February., Results: A total of 1556 patients underwent surgery, mostly for severe congenital anomalies. The infection rates were very low: 2-3%; the mortality rate was 0.4% for all the operations., Conclusions: Good pre-operative preparation and assistance, assurance of cyclical follow-up and a trained surgical team allowed the successful treatment of complex malformations in a missionary hospital with modest services.

This paper is concerned with the theoretical prediction of stress fractures in the bones of athletes, soldiers and others during periods of intensive exercise. Previously [J. Orthop. Res. 19 (2001) 919] we showed that test data on the fatigue strength of bone in vitro could be described using Weibull's probabilistic model, allowing predictions to be made of the probability of failure as a function of time under cyclic loading. This paper extends the earlier argument by including two living processes which act to reduce the incidence of failure: (i) repair of damage, and; (ii) adaptation by bone deposition. Having incorporated these aspects into the mathematical model, we applied the theory to a specific case: the human second metatarsal. We predicted a 17% incidence of stress fractures, all occurring within 6 weeks of commencement of the training programme. These predictions agreed well with clinical findings. Interestingly, we concluded that the major effect in preventing stress fractures comes from repair rather than from adaptation, which has a relatively minor role because it acts more slowly.

We report 2 cases of inverted urothelial papilloma of the ureter. The second case demonstrates inverted papilloma and papillary transitional cell carcinoma in a single polypoid lesion. Conservative therapy was performed and a follow-up 12 months later shows no evidence of recurrences.

The presence of os penis in man is very rare. To date only 11 cases have been published. A close study of these cases shows their extreme heterogeneity. We think that the os penis should be considered as a heterotopic bone structure similar to that found in the animal world. To confirm this we present our personal case study.