Second- and third-degree kinship analysis by NGS-based SNP genotyping and evaluation of 2045-SNP performance on limited or degraded DNA.

We developed a novel next-generation sequencing-based single-nucleotide polymorphism (SNP) genotyping method for second- and third-degree kinship analysis, and designed 1144- and 2045-SNP panels using one (Set A) and two sets (Sets A and B) of primers. These SNP loci were analyzed in 120 Japanese individuals, and likelihood ratios (LRs) for kinship discrimination were calculated to evaluate the effect of number of SNP loci in simulated analysis. Likelihood evaluation was performed using DNA profiles from two individuals, namely, the unknown and one reference relative.

Assessing the risk factors for surgical site infections after anal reconstruction surgery in patients with anorectal malformations: a retrospective analysis.

Purpose: This study aimed to identify surgical site infection (SSI) risk factors after anal reconstruction surgery in patients with anorectal malformations (ARMs).

Methods: This retrospective analysis from January 2013 to December 2022, including all pediatric surgical facilities in Hokkaido, Japan, examined consecutive patients with ARMs, excluding cloacal cases, regarding perioperative and SSI factors during their initial anal reconstruction surgeries.

Results: This study involved 157 cases of major clinical groups and 7 cases of rare/regional variants, among whom 4% developed SSIs.

RNA sensing induced by chromosome missegregation augments anti-tumor immunity.

Viral mimicry driven by endogenous double-stranded RNA (dsRNA) stimulates innate and adaptive immune responses. However, the mechanisms that regulate dsRNA-forming transcripts during cancer therapy remain unclear. Here, we demonstrate that dsRNA is significantly accumulated in cancer cells following pharmacologic induction of micronuclei, stimulating mitochondrial antiviral signaling (MAVS)-mediated dsRNA sensing in conjunction with the cyclic GMP-AMP synthase (cGAS)/stimulator of interferon genes (STING) pathway.

Age-related TFEB downregulation in proximal tubules causes systemic metabolic disorders and occasional apolipoprotein A4-related amyloidosis.

With the aging of society, the incidence of chronic kidney disease (CKD), a common cause of death, has been increasing. Transcription factor EB (TFEB), the master transcriptional regulator of the autophagy-lysosomal pathway, is regarded as a promising candidate for preventing various age-related diseases. However, whether TFEB in the proximal tubules plays a significant role in elderly CKD patients remains unknown.

A novel scoring system for the prediction of disease severity in STEC-HUS.

Background: Shiga toxin-producing Escherichia coli-associated hemolytic uremic syndrome (STEC-HUS) is a life-threatening condition complicated by acute kidney injury, acute respiratory distress syndrome, and central nervous system disorders. The early identification of high-risk patients is required to facilitate timely and appropriate treatment.

Methods: The medical records of patients with STEC-HUS treated at 11 hospitals in Hokkaido, Japan, were reviewed retrospectively.

Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts.

Dilated cardiomyopathy (DCM) is a progressive myocardial disorder characterized by impaired cardiac contraction and ventricular dilation. However, some patients with DCM improve when experiencing left ventricular reverse remodeling (LVRR). Currently, the detailed association between genotypes and clinical outcomes, including LVRR, particularly among children, remains uncertain.

Development of a latex microsphere-based lateral flow immunoassay for the diagnosis of schistosomiasis japonica.

Background: Zoonotic schistosomiasis, caused by Schistosoma japonicum, is prevalent in China, the Philippines and Indonesia. Rapid point-of-care (POC) diagnostics are attractive and promising tools for evaluating the efficacy of intervention strategies for schistosomiasis control.

Methodology: The diagnostic potential of five recombinant antigens was tested by enzyme-linked immunosorbent assay (ELISA) using sera from individuals with positive Kato-Katz (KK) results for S.

The origins of light-independent magnetoreception in humans.

The Earth's abundance of iron has played a crucial role in both generating its geomagnetic field and contributing to the development of early life. In ancient oceans, iron ions, particularly around deep-sea hydrothermal vents, might have catalyzed the formation of macromolecules, leading to the emergence of life and the Last Universal Common Ancestor. Iron continued to influence catalysis, metabolism, and molecular evolution, resulting in the creation of magnetosome gene clusters in magnetotactic bacteria, which enabled these unicellular organisms to detect geomagnetic field.

Dysregulation of PI4P in the trans Golgi regions activates the mammalian Golgi stress response.

The Golgi stress response is an important cytoprotective system that enhances Golgi function in response to cellular demand, while cells damaged by prolonged Golgi stress undergo cell death. OSW-1, a natural compound with anticancer activity, potently inhibits OSBP that transports cholesterol and phosphatidylinositol-4-phosphate (PI4P) at contact sites between the endoplasmic reticulum and the Golgi apparatus. Previously, we reported that OSW-1 induces the Golgi stress response, resulting in Golgi stress-induced transcription and cell death.

Comparative outcomes of video-assisted thyroidectomy and traditional open surgery: a 5-year analysis of a single center experience.

Objective: This study aimed to evaluate and compare the outcomes of patients undergoing video-assisted thyroidectomy versus those undergoing traditional open surgery.

Methods: In this retrospective study, we reviewed the clinical records of 449 patients who underwent thyroid surgery at our institution between April 2017 and March 2022. Of these, 209 underwent video-assisted thyroidectomy, while 248 underwent traditional open surgery.

Impact of tumor-treating fields on the survival of Japanese patients with newly diagnosed glioblastoma: A multicenter, retrospective cohort study.

Background: The EF-14 clinical trial demonstrated the safety and efficacy of tumor-treating fields (TTFields) for newly diagnosed glioblastoma. This study aimed to clarify the current status, safety, and efficacy of TTFields in Japanese patients who meet the EF-14 inclusion criteria.

Methods: This was a multicenter retrospective cohort study.

Feasibility of a nurse-initiated brief cognitive behavioral strategy intervention program for symptom clusters experienced by patients with advanced non-small cell lung cancer.

Objective: To assess the feasibility of a nurse-initiated brief cognitive behavioral strategy (CBS) intervention program targeting pain and fatigue symptoms among the pain and fatigue/anorexia symptom clusters experienced by patients with advanced non-small cell lung cancer (NSCLC).

Methods: In this single-group, pre-post test study, 15 NSCLC outpatients undergoing medical treatment participated. After providing informed consent, participants completed a baseline questionnaire and received a booklet detailing brief cognitive-behavioral techniques (e.

Establishment and characterization of NCC-GCTB10-C1: a novel cell line derived from a patient with recurrent giant cell tumor of bone.

Giant cell tumor of bone (GCTB) is a rare osteolytic tumor composed of mononuclear stromal cells, macrophages, and osteoclast-like giant cells. While generally benign, GCTB has a high risk of local recurrence and can occasionally undergo malignant transformation or metastasis, posing significant clinical challenges. The primary treatment is complete surgical resection; however, effective management strategies for recurrent or advanced GCTB remain elusive, underscoring the need for further preclinical research.

Cognitive and ataxic adverse events following entrectinib treatment in NTRK1 fusion gene-positive intrahepatic cholangiocarcinoma: a case report.

We report the rare case of severe cognitive disorder and ataxia caused by entrectinib in a patient with NTRK1 fusion gene-positive intrahepatic cholangiocarcinoma. The case was a 56-year-old woman after nine courses of GCS therapy. The patient experienced grade 1 muscle weakness on day 4 and grade 3, cognitive disorder on day 7 after receiving entrectinib, which led to hospitalization.

Evaluation of the patency rate and endothelialization of a poly-ε-caprolactone, nanofiber sheet-based vascular graft using a rat abdominal aortic implantation model.

Introduction: The global increase in cardiovascular diseases has resulted in an augmented development of artificial small-caliber vascular grafts used in bypass graft surgeries, such as coronary and distal artery bypass graft surgeries. However, no consensus exists regarding the best method for creating vascular grafts. Poly-ε-caprolactone (PCL) is a biocompatible and biodegradable material that has been widely studied as a scaffold for tissue regeneration, inclusive of vascular grafts.