Contribution of germline and somatic mutations to risk of neuromyelitis optica spectrum disorder.

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease characterized by optic neuritis and transverse myelitis, with an unclear genetic background. A genome-wide meta-analysis of NMOSD in Japanese individuals (240 patients and 50,578 controls) identified significant associations with the major histocompatibility complex region and a common variant close to CCR6 (rs12193698; p = 1.8 × 10, odds ratio [OR] = 1.

Genome-wide transcriptome and DNA methylome profiling of acquired cystic disease-associated renal cell carcinoma.

Acquired cystic disease (ACD)-associated renal cell carcinoma (RCC) develops uniquely and frequently in patients receiving long-term dialysis for end-stage renal disease (ESRD). In our previous study, the molecular alteration profiles of ACD-associated RCC were partially similar to those of papillary RCC (PRCC). However, the specific profiles of molecular alterations in ACD-associated RCC and their pathogenic mechanisms remain largely unknown.

Depth of response in patients with locally advanced pancreatic cancer treated with first-line chemotherapy: A supplementary analysis of JCOG1407.

Background/objectives: Depth of response (DpR; maximum % reduction from baseline in sum of the target lesion diameters) has demonstrated potential in predicting prognosis in several malignancies. However, its role in locally advanced pancreatic cancer (LAPC) is still unclear. In JCOG1407, modified FOLFIRINOX (mFOLFIRINOX) and gemcitabine plus nab-paclitaxel (GnP) exhibited comparable efficacy for LAPC.

Whole exome sequencing identified mutations of forkhead box I 1 (FOXI1), keratin 6 C (KRT6C) and gap junction protein delta 2 (GJD2) in a low-grade oncocytic tumor of the kidney: a case report.

Background: Low-grade oncocytic tumor (LOT) of the kidney is an emerging entity among renal oncocytic tumors. While the histological features of LOT of the kidney are similar to those of renal oncocytoma, LOT immunohistochemically expresses keratin 7 (KRT7) but not KIT while renal oncocytoma expresses KIT. Molecular analyses of LOTs of the kidney using next generation sequencing revealed those tumors harbor mutations of mTOR-related genes.

Development and internal validation of a predictive model of overall and progression-free survival in eribulin-treated patients with breast cancer based on baseline peripheral blood parameters.

Background: Immune and inflammatory blood parameters have been reported as biomarkers for treatment efficacy. This study aimed to establish a predictive model that includes blood parameters for patients with metastatic breast cancer treated with eribulin.

Methods: A total of 297 patients were enrolled, and their baseline neutrophil-to-lymphocyte ratio, absolute lymphocyte count (ALC), platelet-to-lymphocyte ratio (PLR), prognostic nutritional index (PNI), lymphocyte-to-monocyte ratio (LMR), lactate dehydrogenase (LDH), C-reactive protein (CRP), and clinical data were retrospectively collected.

Bullous pemphigoid.

Bullous pemphigoid is a chronic, subepidermal autoimmune blistering disease characterized by tense blisters on erythematous or normal skin that predominantly affects the older population. The disease arises from autoantibodies targeting hemidesmosomal proteins BP180 and BP230, which are crucial for dermal-epidermal adhesion. The incidence of bullous pemphigoid is increasing, attributed to an ageing population and improved diagnostic recognition.

CD276 as a critical independent biomarker and immune checkpoint inhibitor target in epithelioid mesothelioma-TCGA study.

Background: CD276 is an immune checkpoint, and immune checkpoint inhibitors (ICIs) targeting CD276 have been tested against various cancers. However, the precise role of CD276 in mesothelioma subtypes is unknown. This study aimed to reveal the prognostic significance of CD276 in various cancers and explore CD276 as a target for ICIs in different mesothelioma subtypes.

A Simplified Procedure for Intrathecal Baclofen Catheter Replacement Through a Granulation Tunnel Using a 16-Gauge Peripheral Vein Catheter.

Intrathecal baclofen (ITB) therapy is an established surgical treatment for spasticity. Long-term management of ITB may necessitate catheter replacement, which typically requires a new dural puncture. Although rare, complications such as cerebrospinal fluid leakage, nerve injury, and hemorrhage can occur with a new dural puncture.

Invasive Diagnostic Procedure in Patient With Anomalous Aortic Origin of a Right Coronary Artery.

We present the case of a 17-year-old boy with anomalous aortic origin of a right coronary artery. Despite the absence of ischemia on noninvasive stress tests, invasive diagnostic procedures suggested that ischemia could be induced by a heavy workout in this patient with anomalous aortic origin of a right coronary artery with an interarterial course.

Overview of forensic outpatients on the medical treatment and supervision act in Japan.

In Japan, the Medical Treatment and Supervision Act (MTSA) has been in effect since 2005, and a support system has been established for those found not guilty by reason of insanity (NGRIs). Under this law, the reintegration of the subjects into society is underway. This paper summarizes the status of forensic outpatients during the seven years after its enactment.

Ergonomic endoscopy - Fundamentals of ergonomics and interventions for endoscopy-related musculoskeletal disorders.

Recently, musculoskeletal disorders (MSDs) among endoscopists have attracted considerable attention. MSDs are caused by prolonged static postures, forceful manual exertions, and repetitive twisting maneuvers. Basic knowledge of ergonomics is useful for improving the posture, movements, and work environment of endoscopists, as well as developing equipment to prevent MSDs.

Occipital artery-posterior inferior cerebellar artery bypass for anterior inferior cerebellar artery stenosis with repeated cerebellar ischemic stroke: a case report.

Background: Vertebrobasilar insufficiency revascularization has long been a preventive treatment for cerebral infarction. However, no studies have demonstrated the efficacy of revascularization in patients with cerebellar ischemia.

Case Presentation: We present the case of a 77-year-old Japanese man who experienced seven recurrent cerebellar infarctions over 2 years.

Coronary anomalies in single ventricles: Insights from selective angiographic assessment.

Background: Adults with congenital heart disease have a higher risk of coronary artery disease compared to the general population. However, there is limited information on coronary artery distribution in patients with a single ventricle (SV), which is important in understanding potential cardiovascular events. This study aimed to evaluate coronary artery morphology and anomalies in patients with SV based on selective coronary angiography (CAG).

The Relationship Between the Percent Coefficient of Variation of Sensor Glucose Levels and the Risk of Severe Hypoglycemia or Non-Severe Hypoglycemia in Patients With Type 1 Diabetes: Post Hoc Analysis of the ISCHIA Study.

Background: The relationship between the percent coefficient of variation (%CV) and the risk of severe hypoglycemia (SH) or non-severe hypoglycemia (NSH) in patients with type 1 diabetes (T1D) remains to be elucidated.

Materials And Methods: The Effect of Intermittent-Scanning Continuous Glucose Monitoring to Glycemic Control Including Hypoglycemia and Quality of Life of Patients with Type 1 Diabetes Mellitus (ISCHIA) study was a crossover, randomized, controlled trial for hypoglycemia prevention in patients with T1D using multiple daily injections (MDIs). Blinded continuous glucose monitoring (CGM) data of 93 patients obtained during the Control period (84 days) were used for the post hoc analysis.

Potential Role of Perampanel in Reducing Barbiturate Dependency in Febrile Infection-Related Epilepsy Syndrome: A Case Report.

Febrile infection-related epilepsy syndrome (FIRES) is a type of new-onset refractory status epilepticus (NORSE) that occurs in previously healthy children. Conventional antiepileptic drugs (AEDs) often fail to control seizures, necessitating the use of high-dose anesthetics, which can lead to severe complications and poor outcomes. Perampanel has shown promise in the treatment of refractory epilepsy; however, its role in FIRES remains underexplored.

Arterial stiffness, high fasting glucose, and fatty liver as risk factors for visceral obesity in middle-aged Chinese individuals: a cross-sectional study.

The prevalence of obesity is increasing rapidly worldwide, particularly in Asia. Visceral obesity, characterized by intra-abdominal fat accumulation, is a precursor to metabolic syndrome, encompassing hyperglycemia, dyslipidemia, and hypertension, which elevate the risk of atherosclerosis and cardiovascular disease. A visceral fat area (VFA) of ≥100 cm is a recognized threshold for diagnosing obesity-related metabolic syndrome.

Comparison of the clinical significance of lymphocyte-based inflammatory indices between the two major subtypes of primary aldosteronism.

Purpose: Primary aldosteronism (PA) can be classified into aldosterone-producing adenoma (APA) and idiopathic hyperaldosteronism (IHA) and is related to chronic inflammatory diseases. We compared lymphocyte-based inflammatory indices among patients with APA, IHA and essential hypertension (EH), and investigated the relationships between these indices and background factors in patients with PA.

Methods: A total of 186 patients (39 with APA, 48 with IHA, and 99 with blood-pressure-matched EH) were retrospectively included.

Safety and efficacy of tolvaptan in real‑world Japanese patients with autosomal dominant polycystic kidney disease: final results of SLOW‑PKD surveillance.

Background: Tolvaptan, a vasopressin type 2 receptor antagonist, has been used to treat autosomal dominant polycystic kidney disease in Japan since 2014.

Methods: This long-term, real-world, post-marketing surveillance (PMS) was conducted in Japan from March 2014 to March 2022. Safety was assessed based on adverse drug reactions (ADRs).

Association between coronary sinus flow estimated using dynamic coronary CT angiography and N-ammonia PET-derived myocardial flow reserve.

Rationale And Objectives: PET-derived myocardial flow reserve (MFR) is a powerful prognostic indicator in coronary artery disease. We devised a new method for CS flow quantification using 320-row dynamic coronary CT angiography (CCTA) and investigated the relationship between CS flow determined via CCTA and MFR obtained via N-ammonia PET (NH-PET).

Materials And Methods: Forty patients with significant coronary stenosis on dynamic CCTA who subsequently underwent adenosine-stress NH-PET were enrolled.

Clinically meaningful eGFR slope as a surrogate endpoint differs across CKD stages and slope evaluation periods: the CKD-JAC study.

Background: The slope of estimated glomerular filtration rate (eGFR) is a promising surrogate endpoint in patients with chronic kidney disease (CKD). However, current evidence is mainly derived from Western populations with CKD stages 1-3. In addition, stage-by-stage analysis has never been formally performed.

[A Case in Which Pembrolizumab Was Effective for Synchronous Urothelial Carcinoma, Gastric Cancer and Cecal Cancer].

We report a case of urothelial cancer, gastric cancer, and cecal cancer that responded to pembrolizumab treatment. The patient was a 64-year-old man who was diagnosed with invasive urothelial carcinoma. CT scan showed a 9 cm large tumor in the pelvis.

Classification of Fibroepithelial Lesions of the Breast in Core Needle Biopsy With Implications for Further Management.

Fibroepithelial lesions (FELs) of the breast represent a diverse group of biphasic tumors with varying morphologies and clinical behavior. The classification of FELs is mainly based on a constellation of diagnostic criteria, and intralesional heterogeneity is not uncommon. Therefore, reporting FELs in a core needle biopsy (CNB) with limited tissue material can be challenging as not all the features may be represented for assessment.

Telemedicine as an alternative to in-person care in the field of rheumatic diseases: A systematic scoping review.

Objective: The COVID-19 pandemic prompted the widespread adoption of telemedicine as an alternative to in-person care. This systematic scoping review evaluated the effectiveness, cost-efficiency, and challenges of telemedicine for patients with rheumatic diseases.

Methods: A comprehensive search of the MEDLINE database was conducted using specific terms related to rheumatoid or juvenile arthritis, and telemedicine.