Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.

Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.

Accuracy of cephalometric landmark and cephalometric analysis from lateral facial photograph by using CNN-based algorithm.

Cephalometric analysis is the primary diagnosis method in orthodontics. In our previous study, the algorithm was developed to estimate cephalometric landmarks from lateral facial photographs of patients with normal occlusion. This study evaluates the estimation accuracy by the algorithm trained on a dataset of 2320 patients with added malocclusion patients and the analysis values.

Platelets accelerate lipid peroxidation and induce pathogenic neutrophil extracellular trap release.

Neutrophil extracellular traps (NETs), an important host defense mechanism, are assembled after the release of decondensed chromatin and other nuclear components by a process termed NETosis. However, excessive NET release destroys surrounding tissues, leading to conditions such as sepsis where platelets are implicated in the pathogenic switch of NETosis. Here, we show that platelets trigger iron accumulation and promote lipid peroxide production in neutrophils co-stimulated with lipopolysaccharide and platelets in vitro, resulting in the induction of NETosis.

Adaption of a trigger tool to identify harmful incidents, no harm incidents, and near misses in prehospital emergency care of children.

Background: The emergency medical service (EMS) addresses all chief complaints across all ages in various contexts. Children in EMS present a particular challenge due to their unique anatomical and physical properties, which require specific training that EMS clinicians often report lacking. This combination exposes children to incidents threatening patient safety.

Total Minimally Invasive Curative Staged Resections After Induction Systemic Therapy for Metastatic Rectal Cancer.

Background: Intensified systemic chemotherapy following minimally invasive surgery for patients with unresectable metastatic colorectal cancer is performed to achieve curative resection and improve quality of life. We report a case of initially unresectable rectal cancer with metastases treated with laparoscopic and thoracoscopic staged resections after triplet chemotherapy plus bevacizumab.

Case: A 71-year-old man was referred to our hospital to examine the cause of constipation.