Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis.

Background: Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (AGK) is responsible for the disease, and several AGK gene variants have been reported.

Methods: We employed a comprehensive genomic analysis approach, including whole-genome sequencing and RNA sequencing, combined with various bioinformatics tools.

Low-polarization-sensitive 1 × 2 carrier-injection-type silicon photonic switch consisting of input-/ output-side polarization splitter/rotators and a single Mach-Zehnder interferometer.

We propose a low-polarization-sensitive 1 × 2 carrier-injection-type silicon photonic switch consisting of a single Mach-Zehnder interferometer, an input-/output-side polarization splitter and rotators, bidirectional light injection, and an external optical circulator. A polarization-dependent loss (PDL) of 1.3 dB was achieved using the proposed structure, whereas a PDL exceeding 17 dB was observed without the structure.

hsa_circ_0015388 Reduces Macrophage Derived Reactive Oxygen Species in Crohn's Disease.

Background: Crohn's disease (CD) is a refractory inflammatory bowel disease with an unclear etiology. CircularRNA (circRNA) has been highlighted as a novel class of functional noncoding RNAs associated with the pathogenesis of various diseases. However, the functions of circRNA in CD remain unclear.

Incidence and Prognosis of Prosthesis-Patient Mismatch After Transcatheter Aortic Valve Replacement for Bicuspid Aortic Stenosis.

Background: Evidence regarding the incidence of prosthesis-patient mismatch (PPM) and long-term mortality after transcatheter aortic valve replacement (TAVR) in patients with bicuspid aortic valve stenosis (AS) is scarce.

Objectives: This study sought to assess the incidence and prognostic impact of PPM after TAVR for bicuspid AS compared with that for tricuspid AS.

Methods: In total, 7,393 patients who underwent TAVR were prospectively enrolled in the OCEAN-TAVI (Optimized Catheter Valvular Intervention Transcatheter Aortic Valve Implantation) registry, an ongoing Japanese, multicenter registry.