Distortion of body image perception in the Prader-Willi syndrome: Relationship with the perceptual reasoning index.

Introduction: Self-perception of body image has been scarcely evaluated in people with Prader-Willi syndrome (PWS), who, in addition to intellectual disability, are often obese. Therefore, we explored whether people with PWS can accurately identify their true image and how this self-perception is impacted by their neuropsychological profile.

Methodology: This observational study included patients with PWS with regular attendance to transdisciplinary treatment at a center specialized in the management of rare diseases.

Biliary Reconstruction with Hepaticoduodenostomy Versus Hepaticojejunostomy After Choledochal Cyst Resection: A Narrative Review.

Choledochal cysts (CCs), a congenital anomaly resulting in the abnormal dilation of the biliary ductal system, are most often identified in patients younger than 10 years of age. Regardless of clinical presentation, the cornerstone of therapy for CCs is complete surgical excision with reconstruction with either hepaticoduodenostomy or hepaticojejunostomy. Although both procedures are used by surgeons for the correction of CCs, evidence on clinical outcomes following both approaches is inconclusive as to which may offer superior reconstruction.

Epigenome editing technologies for discovery and medicine.

Epigenome editing has rapidly evolved in recent years, with diverse applications that include elucidating gene regulation mechanisms, annotating coding and noncoding genome functions and programming cell state and lineage specification. Importantly, given the ubiquitous role of epigenetics in complex phenotypes, epigenome editing has unique potential to impact a broad spectrum of diseases. By leveraging powerful DNA-targeting technologies, such as CRISPR, epigenome editing exploits the heritable and reversible mechanisms of epigenetics to alter gene expression without introducing DNA breaks, inducing DNA damage or relying on DNA repair pathways.