👤 Giulia Chiarello

Congenital hypogonadotropic hypogonadism (CHH) is a rare and heterogeneous genetic disorder with variable penetrance caused by GnRH deficiency, leading to delayed puberty and infertility. In 50-60% of cases, CHH is associated with non-reproductive abnormalities, most commonly anosmia/hyposmia (Kallmann syndrome, KS). Over 60 genes have been implicated in CHH pathogenesis. We aimed to perform genetic screening in a cohort of 14 patients (10 males, 4 females; mean age 22 ± 7.72 years) with suspected or diagnosed HH/KS. Genetic analysis was conducted using next-generation sequencing (NGS) with a custom panel of 46 candidate genes. Variant interpretation followed ACMG standards and guidelines. Multiple tools were used to predict the structural effects of variants on tertiary protein structure, assessing their pathogenicity. Novel variants were functionally characterized by qRT-PCR on mRNA extracted from peripheral leukocytes. NGS identified nine rare variants and four novel variants in genes previously associated with normosmic isolated HH (nHH) and/or KS ( Show less

Laparoscopic surgery of obese patients still represents a real challenge in clinical practice. High-pressure pneumoperitoneum and steep Trendelenburg position are the main anesthesiologic indications to laparotomic conversion. The aim of this prospective study was to assess effectiveness and safety of low-pressure laparoscopic (LPL) procedures using a subcutaneous abdominal wall-retraction (LaparoTenser ®). We enrolled obese patients (BMI ≥ 30 kg/m A total of 33 patients were included in this study. The median age was 69 (range: 40-83), with a median BMI of 39 kg/m LPL technique using the LaparoTenser ® device is feasible and safe in morbidly obese patients. The wall-lifting device enables adequate viscera exposure creating a large intra-abdominal operative space avoiding the disadvantages of intraperitoneal high-pressure and CO Show less