Background: Precision oncology is advancing, increasing the demand for comprehensive, non-invasive genomic profiling tools. Liquid biopsy using circulating tumor DNA (ctDNA) enables real-time molecular profiling, treatment monitoring, and early detection of resistance variants. We developed the PAN100 panel (Dxome), a hybridization capture panel targeting 101 genes, as a pan-cancer genotyping assay to detect clinically actionable variants across various cancer types. This study presents the first comprehensive validation of the PAN100 panel including both analytical and clinical performance across eight cancer types using reference materials and matched tissue samples. Methods: For analytical validation, we assessed accuracy, limit of detection (LoD), and precision using Seraseq ctDNA v2 Reference Materials (SeraCare, Milford, MA, USA). Clinical validation was performed using plasma samples from 27 patients with eight types of cancer and 17 matched tumor samples. Positive percent agreement (PPA) between ctDNA and tissue next-generation sequencing (NGS) results was assessed using TruSight Oncology 500 and TruSight Tumor 170 assays. The limit of blank (LoB) was evaluated in 34 healthy individuals. Results: The PAN100 panel demonstrated high precision and linearity (LoD, 0.3%; 95.0% confidence interval, 0.29–0.35) variant allele frequency. The PPA between ctDNA and tissue NGS was 73.1% for single-nucleotide variants, 80.0% for insertions/deletions, and 74.2% overall. The LoB was 0.00001%. Conclusions The PAN100 panel is a robust tool for detecting clinically significant variants with high concordance with tissue NGS. Its sensitivity for low-frequency variants enables real-time treatment adaptation, supporting precision oncology. Its comprehensive design is particularly valuable for challenging diagnoses and clonal evolution monitoring.

Bony Bankart lesions present considerable challenges in shoulder surgery, particularly when large. While smaller lesions can often be treated effectively using the single-row technique, larger lesions require more complex approaches. Several arthroscopic techniques have been developed to manage these lesions. Although the double-row technique is effective, it has the disadvantage of placing suture material on the articular surface. In contrast, the transosseous technique permits adequate compression and surface contact without involving the articular surface; however, it is technically demanding and frequently requires specialized instruments. This technical note describes a simplified arthroscopic transosseous repair method for bony Bankart lesions using standard spinal needles and Kirschner wires, eliminating the need for specialized equipment while ensuring secure fixation and optimal surface contact.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli-Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.

This study summarizes the recent cutting-edge approaches for dentin regeneration that still do not offer adequate solutions. Tertiary dentin is formed when odontoblasts are directly affected by various stimuli. Recent preclinical studies have reported that stimulation of the Wnt/β-catenin signaling pathway could facilitate the formation of reparative dentin and thereby aid in the structural and functional development of the tertiary dentin. A range of signaling pathways, including the Wnt/β-catenin pathway, is activated when dental tissues are damaged and the pulp is exposed. The application of small molecules for dentin regeneration has been suggested as a drug repositioning approach. This study reviews the role of Wnt signaling in tooth formation, particularly dentin formation and dentin regeneration. In addition, the application of the drug repositioning strategy to facilitate the development of new drugs for dentin regeneration has been discussed in this study.

Background: The aim of this study was to investigate the clinical presentations, patterns of soft-tissue injuries, and outcomes of treatment of elbow dislocations in patients with preexisting cubitus varus. Methods: Four cases of elbow dislocation in patients with preexisting cubitus varus, which were treated at 3 residency training hospitals, were retrospectively reviewed. Soft-tissue injury patterns were investigated using magnetic resonance imaging (MRI).Clinical outcomes were assessed at an average of 50.8 months (range, 34–82 months) after treatment using the Mayo Elbow Performance Score (MEPS) and the Quick Disabilities of the Arm, Shoulder and Hand (QuickDASH) score. Results: The mean patient age was 49.5 years (range, 33–57 years). All patients had a posteromedial elbow dislocation, which was an indirect injury caused by a fall onto an outstretched hand. One patient had failed closed reduction; 3 others had redislocation or gross instability after closed reduction. Significant tears of the lateral collateral ligament complex and common extensor group were shown in MRI. All patients had surgical treatment including lateral complex repair only (n = 2), repair of both sides’ complexes (n = 1), and corrective osteotomy with lateral complex repair (n = 1). At the final follow-up, the mean MEPS was 92.5 ± 8.7 and the mean QuickDASH score was 4.5 ± 6.4. Conclusions Elbow dislocation in patients with preexisting cubitus varus may present as posteromedial dislocation with acute instability. Surgical treatment of this injury led to acceptable clinical outcomes.

This study summarizes the recent cutting-edge approaches for dentin regeneration that still do not offer adequate solutions. Tertiary dentin is formed when odontoblasts are directly affected by various stimuli. Recent preclinical studies have reported that stimulation of the Wnt/β-catenin signaling pathway could facilitate the formation of reparative dentin and thereby aid in the structural and functional development of the tertiary dentin. A range of signaling pathways, including the Wnt/β-catenin pathway, is activated when dental tissues are damaged and the pulp is exposed. The application of small molecules for dentin regeneration has been suggested as a drug repositioning approach. This study reviews the role of Wnt signaling in tooth formation, particularly dentin formation and dentin regeneration. In addition, the application of the drug repositioning strategy to facilitate the development of new drugs for dentin regeneration has been discussed in this study.

Although studies on malrotation of the humerus possibly leading to dysfunction of the shoulder have been reported, studies on its causes are inadequate. The authors encountered a patient complaining of malrotation accompanied by dysfunction of the shoulder which occurred during treatment of a distal humeral fracture. The patient recovered the shoulder function by only correcting malrotation of the humerus without direct treatment on the shoulder, and we report it herein with a review of the literature.
Humans ; Humeral Fractures ; Humerus* ; Shoulder*

Generally, lateral plating is used for a comminuted fracture of the distal femur. However, in some cases, it has been shown that using a medial plate is necessary to achieve better outcome. Nevertheless, there are no available anatomical plates that fit either the distal medial femoral condyle or fracture fixation, except for the relatively short plate developed for distal femoral osteotomy. We found that locking compression plate-proximal lateral tibia (LCP-PLT) fits anatomically well for the contour of the ipsilateral medial femoral condyle. Moreover, LCP-PLT has less risk of breaking the thread holes since it rarely needs to be bent. We report a plastic bone model study and two cases of distal femoral fractures fixed with medial plating using LCP-PLT.
Femoral Fractures* ; Femur ; Fracture Fixation ; Fractures, Comminuted ; Osteotomy ; Plastics ; Tibia*