Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.

Background: The efficacy and safety of avalglucosidase alfa for Pompe disease (PD) have been demonstrated in a global Phase 3 trial (COMET) in patients with late-onset PD (LOPD) and a global Phase 2 trial (Mini-COMET) in patients with infantile-onset PD (IOPD). This case series examines the individual results of three Japanese patients enrolled in these trials.

Methods: Case reports were assembled from data collected in the COMET and Mini-COMET trials.

A silylboronate-mediated strategy for cross-coupling of alkyl fluorides with aryl alkanes: mechanistic insights and scope expansion.

The construction of C(sp)-C(sp) bonds is pivotal in organic synthesis; however, traditional methods involving alkyl halides are often limited by substrate tolerance and bond dissociation energies, particularly with alkyl fluorides. Herein, we report a silylboronate-mediated cross-coupling strategy that circumvents these challenges, enabling the efficient formation of C(sp)-C(sp) bonds between alkyl fluorides and aryl alkanes under mild conditions. Various alkyl fluorides have also been effectively utilized, demonstrating the versatility and broad applicability of this approach.

Design and Mechanistic Insights into α-Helical -Terphenyl Guanidines as Potent Small-Molecule Antifreeze Agents.

Ice formation is a critical challenge across multiple fields, from industrial applications to biological preservation. Inspired by natural antifreeze proteins, we designed and synthesized a new class of small-molecule antifreezes based on α-helical -terphenyl scaffolds with guanidine side chains. These -terphenyl guanidines , among the smallest molecules that mimic α-helical structures, exhibit potent ice recrystallization inhibition (IRI) activity, similar to that of existing large α-helical antifreeze compounds.

Construction and Stability of All-in-One Adenovirus Vectors Simultaneously Expressing Four and Eight Multiplex Guide RNAs and Cas9 Nickase.

CRISPR/Cas9 technology is expected to offer novel genome editing-related therapies for various diseases. We previously showed that an adenovirus vector (AdV) possessing eight expression units of multiplex guide RNAs (gRNAs) was obtained with no deletion of these units. Here, we attempted to construct "all-in-one" AdVs possessing expression units of four and eight gRNAs with Cas9 nickase, although we expected obstacles to obtain complete all-in-one AdVs.

Psychotic experiences and dissociation in adolescents: Within-person analysis in the Tokyo teen cohort.

Although many cross-sectional studies showed that psychotic experiences (PEs) and dissociation were closely related, the longitudinal association between them remains unknown. Therefore, the aim of the current study was to examine the longitudinal association of these two symptoms throughout adolescence, under the hypothesis that these two symptoms are bidirectionally associated. Data were obtained from a population-based cohort, the Tokyo Teen Cohort study (TTC; N = 3171).