Novel Genetic Variant in : Prenatal and Postnatal Neuroimaging Phenotype.

Objectives: To provide a comprehensive description of neuroradiologic findings in a patient with a probable pathogenic variant of , particularly in relation to pontine and cerebellar hypoplasia.

Methods: We first report prenatal and postnatal neuroradiologic phenotype of a female patient carrying a likely pathogenic variant and discuss its function.

Results: An ultrasound shows borderline ventriculomegaly, rotated cerebellar vermis, and dysgenetic corpus callosum.

Leaks after laparoscopic sleeve gastrectomy: 2024 update on risk factors.

Purpose: Leaks after sleeve gastrectomy remain a deadly complication significantly affecting outcomes and medical costs. The aim of the present review is to provide an updated decalogue on leak prevention.

Methods: Risk factors of leakage after LSG were examined based on an extensive review of literature (in period time 2016-2024) and summary of evidence was provided using Oxford levels of evidence scale.

TEP or TAPP: who, when, and how?

Groin hernia repair is the most common procedure performed by general surgeons. The open mesh technique generally represents the main technique for an inguinal repair, but a different approach is often required. Laparoscopy was found to be the answer to minimizing the impact of the preperitoneal open techniques described by Nyhus and Stoppa.

A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.

CDKL5 deficiency disorder (CDD) is an X-linked dominant epileptic encephalopathy, characterized by early-onset and drug-resistant seizures, psychomotor delay, and slight facial features. Genomic variants inactivating or impairing its protein product kinase activity have been reported, making next-generation sequencing (NGS) and chromosomal microarray analysis (CMA) the standard diagnostic tests. We report a suspicious case of CDD in a female child who tested negative upon NGS and CMA and harbored an X chromosome de novo pericentric inversion.