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.

The Analgesic and Side Effects of Tramadol Hydrochloride Immediate-Release and Extended-Release Tablets in Patients With Chronic Low Back Pain.

Overview Of Literature:  There are no established treatments for low back pain. Conventional treatments include physiotherapy and pharmacological treatments, such as non-steroidal anti-inflammatory drugs (NSAIDs). Recently, analgesics with mechanisms of action different from those of NSAIDs have emerged.

Long-term outcome of regional cooperation pathway after endoscopic submucosal dissection for early detection of new gastric cancer.

Objectives: The Cancer Control Act requires the maintenance of regional cooperation pathways (RCP) for cancer treatment. In 2008, we started RCP for early detection of new gastric cancer after endoscopic submucosal dissection (ESD). In gastric cancer treatment, RCP after surgical resection had been widely used, but little is known about RCP after ESD.

Suppression of Type I Interferon Signaling in Myeloid Cells by Autoantibodies in Severe COVID-19 Patients.

Purpose: Auto-antibodies (auto-abs) to type I interferons (IFNs) have been identified in patients with life-threatening coronavirus disease 2019 (COVID-19), suggesting that the presence of auto-abs may be a risk factor for disease severity. We therefore investigated the mechanism underlying COVID-19 exacerbation induced by auto-abs to type I IFNs.

Methods: We evaluated plasma from 123 patients with COVID-19 to measure auto-abs to type I IFNs.

Risk factors of unintentional piecemeal resection in endoscopic mucosal resection for colorectal polyps ≥ 10 mm.

This study aimed to investigate the lesion and endoscopist factors associated with unintentional endoscopic piecemeal mucosal resection (uniEPMR) of colorectal lesions ≥ 10 mm. uniEPMR was defined from the medical record as anything other than a preoperatively planned EPMR. Factors leading to uniEPMR were identified by retrospective univariate and multivariate analyses of lesions ≥ 10 mm (adenoma including sessile serrated lesion and carcinoma) that were treated with endoscopic mucosal resection (EMR) at three hospitals.

Cerebellar injury in preterm infants less than 28 weeks gestational age.

Background: Cerebellar injury is one of the perinatal complications in preterm infants. Recent studies have highlighted the effect of perinatal complications on neurological morbidity. We investigated the perinatal risk factors and morbidity for cerebellar injury in extremely premature infants.

Treatment strategy changes for inflammatory bowel diseases in biologic era: results from a multicenter cohort in Japan, Far East 1000.

Many molecular targeted agents, including biologics, have emerged for inflammatory bowel diseases (IBD), but their high prices have prevented their widespread use. This study aimed to reveal the changes in patient characteristics and the therapeutic strategies of IBD before and after the implementation of biologics in Japan, where the unique health insurance system allows patients with IBD and physicians to select drugs with minimum patient expenses. The analysis was performed using a prospective cohort, including IBD expert and nonexpert hospitals in Japan.

Dynamic vocal cord behavior and stridor during emergence from general anesthesia in small children with supraglottic airway.

Purpose: Stridor during emergence from anesthesia is not rare in children managed with supraglottic airway (SGA). However, we know little about the mechanisms of stridor and behavior of the vocal cords (VC). This study aimed to clarify patterns of VC movement and laryngeal airway maintenance function during recovery from anesthesia in children with SGA.

Mapping the Japanese orthopedic association national registry (JOANR) to the international classification of health interventions (ICHI).

Background: The Japanese Orthopedic Association launched the Japanese Orthopedic Association National Registry (JOANR), Japan's first large-scale nationwide musculoskeletal disease registry, in 2020. The World Health Organization released the International Classification of Health Interventions (ICHI) Beta-3 version in the same year. This concurrence served as an impetus to examine the relationship between domestic and international classification for orthopedic interventions.

Clinical Efficacy of Neurotropin for Lumbar Spinal Stenosis with Low Back Pain.

Purpose: We compared the clinical effects of Neurotropin, limaprost alfadex, and a combination of both drugs for lumbar spinal stenosis (LSS) with low back pain (LBP).

Methods: We conducted a multicenter, randomized, active-controlled, open-label trial from March 2021 to May 2022. Participants were patients diagnosed with LSS by MRI and were randomly assigned to three groups: Neurotropin/limaprost combination (NL group), Neurotropin (N group), and limaprost group (L group).

Lower SMI is a risk factor for dysphagia in Japanese hospitalized patients with osteoporotic vertebral and hip fracture: A retrospective study.

Objectives: Many patients with osteoporotic fragile fracture often suffer from dysphagia that results in malnutrition, further deterioration of physical strength, and rehabilitation difficulties. This study aims to investigate the risk factors for dysphagia in hospitalized patients with osteoporotic vertebral and/or hip fractures.

Methods: Between January 2020 and December 2021, 569 inpatients were managed for osteoporotic vertebral or hip fractures.

A case report of neuromyelitis optica spectrum disorder induced by pembrolizumab treatment for lung adenocarcinoma: a clinical and immunohistochemical study.

Background: We report a case of neuromyelitis optica spectrum disorders (NMOSD), who developed after the pembrolizumab treatment, an immune checkpoint inhibitor, against lung adenocarcinoma. The present case is discussed with the lung adenocarcinoma specimen which was stained by aquaporin-4 (AQP4) and with literature review of NMOSD linked to immune checkpoint inhibitors.

Case Presentation: A 62-year-old Japanese man presented with acute diencephalic syndrome, left optic neuritis, and myelitis 5 months after initiation of pembrolizumab treatment for lung adenocarcinoma.

Derivation of pancreatic acinar cell carcinoma cell line HS-1 as a patient-derived tumor organoid.

Acinar cell carcinoma (ACC) of the pancreas is a malignant tumor of the exocrine cell lineage with a poor prognosis. Due to its rare incidence and technical difficulties, few authentic human cell lines are currently available, hampering detailed investigations of ACC. Therefore, we applied the organoid culture technique to various types of specimens, such as bile, biopsy, and resected tumor, obtained from a single ACC patient.

Six autoantibodies as potential differential biomarkers of hepatocellular carcinoma vs. liver cirrhosis and chronic hepatitis: A prospective multi-institutional study.

Serum autoantibodies respond not only to tumor-associated antigens of hepatocellular carcinoma (HCC) but also to those of liver cirrhosis (LC) and chronic hepatitis (CH). The present prospective multi-institutional study evaluated the diagnostic properties of six autoantibodies in distinguishing HCC from LC and CH. A total of 416 participants were enrolled: 149 With HCC, 76 with LC, 103 with CH and 88 healthy controls.

Elevated Myl9 reflects the Myl9-containing microthrombi in SARS-CoV-2-induced lung exudative vasculitis and predicts COVID-19 severity.

The mortality of coronavirus disease 2019 (COVID-19) is strongly correlated with pulmonary vascular pathology accompanied by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection-triggered immune dysregulation and aberrant activation of platelets. We combined histological analyses using field emission scanning electron microscopy with energy-dispersive X-ray spectroscopy analyses of the lungs from autopsy samples and single-cell RNA sequencing of peripheral blood mononuclear cells to investigate the pathogenesis of vasculitis and immunothrombosis in COVID-19. We found that SARS-CoV-2 accumulated in the pulmonary vessels, causing exudative vasculitis accompanied by the emergence of thrombospondin-1-expressing noncanonical monocytes and the formation of myosin light chain 9 (Myl9)-containing microthrombi in the lung of COVID-19 patients with fatal disease.

Lipiodol remnants misinterpreted as a metal device on postoperative abdominal X-ray images.

We experienced a case of pregnancy after hysterosalpingogram and residual lipiodol in the extraperitoneal space. Initially, we suspected a metallic remnant; however, analysis by mass spectrometer confirmed that it was a remnant of lipiodol.

Efficacy and Safety of Condoliase Disc Administration as a New Treatment for Lumbar Disc Herniation.

Introduction: Condoliase is a newly approved drug that improves symptoms associated with lumbar disk herniation (LDH) by intradiscal administration. This study aimed to evaluate the mid-term outcomes of condoliase injection, examine the adverse events, including cases that required surgery after condoliase administration, and verify cases in which condoliase could be effective.

Methods: We enrolled patients with LDH who were treated conservatively for at least six weeks and received condoliase.

Outcomes of endoscopic submucosal dissection for colorectal neoplasms: Prospective, multicenter, cohort trial.

Objectives: Endoscopic mucosal resection (EMR) is the gold standard for the treatment of noninvasive large colorectal lesions, despite challenges associated with nonlifting lesions and a high rate of local recurrence. Endoscopic submucosal dissection (ESD) offers the possibility of overcoming these EMR limitations. However, a higher risk of complications and longer procedure time prevented its dissemination.

Early mobilization reduces the medical care cost and the risk of disuse syndrome in patients with acute osteoporotic vertebral fractures.

Study Design: A retrospective observational study.

Purpose: To compare two conservative treatments for acute osteoporotic vertebral fractures (OVFs).

Overview Of Literature: Several studies have reported conservative treatments for OVFs in terms of using a brace, rehabilitation, and bed rest.

Comprehensive mutational analysis of background mucosa in patients with Lugol-voiding lesions.

Somatic mutations including the background mucosa in patients with Lugol-voiding lesions (LVLs) are still not well known. The aim of this study was to evaluate the somatic mutations of the background mucosa in patients with LVLs (Squamous cell carcinoma (SCC), intraepithelial neoplasia (IN), and hyperplasia). Twenty-five patients with LVLs (9 with SCC, 6 with IN, and 10 with hyperplasia) were included.

Gender-specific analysis for the association between trunk muscle mass and spinal pathologies.

We investigated the relationship between trunk muscle mass and spinal pathologies by gender. This multicenter cross-sectional study included patients aged ≥ 30 years who visited a spinal outpatient clinic. Trunk and appendicular muscle mass were measured using bioelectrical impedance analysis.