Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A.

Charcot-Marie-Tooth disease type 2A (CMT2A; OMIM 609260) is a rare sensorimotor neuropathy caused by mutations in the MFN2 gene (1p36.22). We successfully reprogrammed fibroblasts from an 8-year-old girl carrying a de novo MFN2 mutation into induced pluripotent stem cells using non-integrative vectors.

Individualized Learning in Robotic Ileal pouch-anal anastomosis: Challenging the Standard Learning Curve Model.

Objective: This study establishes objective benchmarks for robotic ileal pouch-anal anastomosis (IPAA) proficiency, evaluating individual surgeon learning curves using risk-adjusted cumulative sum (RA-CUSUM) analysis.

Summary Background Data: IPAA is a standard surgical treatment for conditions like refractory ulcerative colitis; robotic assistance offers potential advantages. However, the robotic IPAA learning curve is not clearly defined.

Driving under the influence of drugs: An overview of current legal frameworks.

Driving under the influence (DUI) of alcohol and/or illicit drugs has been shown to increase the risk of involvement in road traffic collisions. Thanks to the scientifically proven link between blood alcohol concentration and impaired driving ability, a broadly accepted legislative framework has been established and is now widely adopted across the globe. In contrast, less is known about the effects of illicit drugs, and a clear correlation between blood drug concentrations and driving performance has been defined by some authors as a "mirage".

Comprehensive identification of pathogenic tandem repeat expansions in sporadic amyotrophic lateral sclerosis: advantages of long-read vs. short-read sequencing.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder presenting progressive weakness of the bulbar and extremity muscles, leading to a wide-ranging clinical phenotype. More than 30 genes have been associated to genetically inherited ALS yet, approximately 85%-90% of ALS cases are sporadic. Short tandem repeats expansions, have recently been found in clinically diagnosed ALS patients and are currently investigated as potential genetic biomarkers.