A Structured Training for Trans Anal Irrigation in Pediatric Patients Improves Outcomes and Reduce Failures: Results of an Interventional Multicenter Prospective Study.

Background: Continence issues due to organic causes including previous colorectal surgery or neurological issues might benefit from Transanal irrigation (TAI) that proved to be highly effective but with a number of limitations including a relatively high discontinuation rates. Our study was aimed at evaluating the efficacy of an advanced protocol tailored to each patient to prevent dropout and increase satisfaction, independence, and quality of life.

Materials And Methods: This was a prospective, interventional, multicenter, nonrandomized study involving children aged 4-18 years with bowel dysfunction unresponsive to conventional treatments who required TAI.

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Background: In the last few years trio-whole exome sequencing (WES) analysis has demonstrated its potential in obtaining genetic diagnoses even in nonspecific clinical pictures and in atypical presentations of known diseases. Moreover WES allows the detection of variants in multiple genes causing different genetic conditions in a single patient, in about 5% of cases. The resulting phenotype may be clinically discerned as variability in the expression of a known phenotype, or as a new unreported syndromic condition.

Inspiratory stridor in a 12-month-old girl.

Congenital tracheal stenosis is a rare disorder, characterized by the presence of focal or diffuse complete tracheal cartilage rings, resulting in a fixed tracheal narrowing. The entity may be seen in isolation or in conjunction with other malformations that include an anomalous right upper lobe bronchus. We here report the case of a 12-month-old girl who had severe bi-segmental congenital tracheal stenosis with the interposition of a tracheal bronchus between the two stenotic segments.

Retrospective study of 111 cases of congenital diaphragmatic hernia treated with early high-frequency oscillatory ventilation and presurgical stabilization.

Background: The prognosis of babies with congenital diaphragmatic hernia (CDH) remains unsatisfactory despite recent advances in medical and surgical treatment. Most authors agree that the best way to improve outcomes for this disease is to focus on pulmonary hypoplasia and persistent pulmonary hypertension (PPH), the 2 most unfavorable prognostic factors for patient survival. However, controversy remains regarding the best treatment of CDH.