Clinical Research Directory

Surgical and Obstetric Outcomes in Patients With Uterine Malformations Undergoing Hysteroscopic Corrective Treatment

The goal of this observational cohort study is to learn if hysteroscopic correction can improve reproductive outcomes in women with uterine malformations. The main questions it aims to answer are: Primary hypothesis: -Does hysteroscopic correction significantly improve pregnancy rates at 12 months post-surgery in women with uterine malformations? Secondary hypotheses: * Does hysteroscopic correction significantly reduce the rate of first and second-trimester spontaneous abortions? * Does hysteroscopic correction significantly increase the live birth rate? * In symptomatic patients, does hysteroscopic correction significantly reduce dyspareunia and dysmenorrhea? * Which patient, histopathological, and surgical factors are associated with improved obstetric outcomes? Researchers will compare obstetric outcomes (pregnancy rate, spontaneous abortion rate, live birth rate, and symptom severity) before and after hysteroscopic correction to determine the effectiveness of this surgical intervention. Participants will be women with uterine malformations who underwent hysteroscopic correction at the Digital Hysteroscopy Center of Policlinico Universitario A. Gemelli di Roma and Azienda Ospedaliera Universitaria Federico II di Napoli. Data will be retrospectively collected and analyzed to assess the impact of surgery on reproductive outcomes.

Prospective Study to Assess Medical Performance of Optical Mapping and Long Read Sequencing in Detecting Numerical and Structural Chromosome Abnormalities

Chromosomal aberrations are major causes of developmental disorders (Intellectual disability (ID), multiple congenital anomalies (MCA), autism spectrum disorders (ASD)) as well as reproductive disorders (RD) in particular gametogenesis defects and recurrent miscarriages. Current first tier genetic investigations for chromosome analysis in clinical settings include karyotyping in case of RD (5 \~ 10% diagnosis rate) and chromosomal microarrays (CMA) in case of ID/MM (10 \~ 20% diagnosis rate). However, both assays show significant drawbacks, e.g. low resolution for karyotyping and inability to detect balanced structural rearrangement for CMA. Optical genome mapping and long read genome sequencing are emerging technologies that offer new opportunities to overcome these limitations and allow for a higher resolution chromosome analysis. This project aims at assessing the performance of optical mapping and long read whole genome sequencing compared to current gold standard cytogenetics methods in a prospective study. The investigator will evaluate their ability to become the all-in-one methodology for genomic analysis that could replace both karyotype and CMA and their added-value compared to these latter by uncovering new diagnoses.

Overview: Use of Respiratory Support At Home in Children

the primary outcome is to describe the perceived success of the use of the respiratory support from the parent's point of view