Identification of ZNF850 as a novel CTG repeat expansion-related gene in myotonic dystrophy type 1 patient-derived iPSCs.

Myotonic dystrophy type 1 (DM1) is a dominantly inherited multi-system disease caused by expanded CTG repeats in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene. Similar to other repeat disorders, the expanded trinucleotide repeat is unstable and demonstrates a tendency to increase repeat size with age in affected tissues. DNA mismatch repair system is implicated in somatic instability.

Cemiplimab monotherapy in Japanese patients with recurrent or metastatic cervical cancer.

Background: In the phase 3 EMPOWER-Cervical 1/GOG-3016/ENGOT-cx9 study, cemiplimab significantly improved overall survival (OS) versus chemotherapy for patients with recurrent or metastatic cervical cancer who progressed after first-line platinum-based chemotherapy. We present a post hoc subgroup analysis of patients enrolled in Japan.

Methods: Patients were enrolled regardless of programmed cell death-ligand 1 status and randomized 1:1 to cemiplimab 350 mg intravenously every 3 weeks or investigator's choice  single-agent chemotherapy for up to 96 weeks.

The Feasibility of a Model-Based Iterative Reconstruction Technique Tuned for the Myocardium on Myocardial Computed Tomography Late Enhancement.

Objectives: This study evaluated the feasibility of a model-based iterative reconstruction technique (MBIR) tuned for the myocardium on myocardial computed tomography late enhancement (CT-LE).

Methods: Twenty-eight patients who underwent myocardial CT-LE and late gadolinium enhancement (LGE) magnetic resonance imaging (MRI) within 1 year were retrospectively enrolled. Myocardial CT-LE was performed using a 320-row CT with low tube voltage (80 kVp).

Feasibility and efficacy of pemafibrate for prevention of maternal high-fat intake-induced glucose metabolic dysfunction in offspring.

Given the significance of the intrauterine lipid environment in glucose metabolic homeostasis in offspring, the present study was undertaken to investigate the feasibility and efficacy of pemafibrate, a triglyceride-lowering peroxisome proliferator-activated agent, for maternal high-fat diet (HFD) intake-induced glucose metabolic dysfunction in offspring. A mouse model of HFD-induced gestational obesity was employed, and pemafibrate was orally administered from day 10 of gestation until delivery. The influences of maternal pemafibrate treatment on biological processes and toxicity were evaluated in both newborns and 12-week-old offspring.

Neuroradiological, genetic and clinical characteristics of histone H3 K27-mutant diffuse midline gliomas in the Kansai Molecular Diagnosis Network for CNS Tumors (Kansai Network): multicenter retrospective cohort.

This study aims to elucidate the clinical and molecular characteristics, treatment outcomes and prognostic factors of patients with histone H3 K27-mutant diffuse midline glioma. We retrospectively analyzed 93 patients with diffuse midline glioma (47 thalamus, 24 brainstem, 12 spinal cord and 10 other midline locations) treated at 24 affiliated hospitals in the Kansai Molecular Diagnosis Network for CNS Tumors. Considering the term "midline" areas, which had been confused in previous reports, we classified four midline locations based on previous reports and anatomical findings.

An extremely rare case of primary alveolar rhabdomyosarcoma in the central nervous system.

Background: Alveolar rhabdomyosarcoma (ARMS) shows a predilection for the peripheral extremities and is very rarely identified as a primary in the brain. Here, we report a case of ARMS with multiple lesions exclusively within the central nervous system (CNS).

Case Description: A 20-year-old man presented to our hospital with a gradually increasing headache and disturbance of consciousness.

The Association Between Dehydration and the Prognosis of Sudden Sensorineural Hearing Loss.

Background: There is an urgent need to identify undetermined risk factors for sudden sensorineural hearing loss (SSNHL) for the development of effective treatment strategies. SSNHL is likely associated with vascular insufficiency; however, no study has evaluated the relationship between dehydration and SSNHL.

Objective: This study aimed to investigate the role of dehydration in the development and prognosis of sudden sensorineural hearing loss.

Treatments and prognostic factors for bone and soft tissue sarcoma in non-urban areas in Japan.

Background: Although bone and soft tissue sarcoma is recognized as a rare cancer that originates throughout the body, few comprehensive reports regarding it have been published in Japan.

Patients And Methods: Bone and soft tissue sarcomas were tabulated from the Cancer Registries at eight university hospitals in the Chugoku-Shikoku region. Prognostic factors in cases were extracted in a single facility and have been analyzed.

Role of amide proton transfer imaging in maximizing tumor resection in malignant glioma: a possibility to take the place of C-methionine positron emission tomography.

Background: Amide proton transfer (APT) imaging has been proposed as a technique to assess tumor metabolism. However, the relationship between APT imaging and other quantitative modalities including positron emission tomography (PET) has not been investigated in detail. This study aimed to evaluate the clinical usefulness of APT imaging in determining the metabolic status of malignant glioma and to compare findings with those from C-methionine (Met)-PET.

Single-cell transcriptomic architecture and cellular communication circuits of parametrial adipose tissue in pregnant mice.

Aims: The activity and interactions of cellular subpopulations in the adipose tissue microenvironment are critical for the coordination of local and systemic adaptation during pregnancy. With a particular interest in parametrial adipose tissue (PmAT), single-cell RNA-sequencing (scRNA-seq) was utilized to unveil the gestative cellular composition and functional shift.

Materials And Methods: To identify cell-type-enriched transcriptome profiles, a total of 18,074 cells in adipose tissue were studied.

Identification of CD44 as a Reliable Biomarker for Glioblastoma Invasion: Based on Magnetic Resonance Imaging and Spectroscopic Analysis of 5-Aminolevulinic Acid Fluorescence.

Recurrent glioblastoma multiforme (GBM) is largely attributed to peritumoral infiltration of tumor cells. As higher CD44 expression in the tumor periphery correlates with higher risk of GBM invasion, the present study analyzed the relationship between CD44 expression and magnetic resonance imaging (MRI)-based invasiveness of GBM on a large scale. We also quantitatively evaluated GBM invasion using 5-aminolevulinic acid (5-ALA) spectroscopy to investigate the relationship between CD44 expression and tumor invasiveness as evaluated by intraoperative 5-ALA intensity.

Clinicopathological features and endoscopic findings of spindle cell oncocytoma: A case report and review of the literature.

Introduction And Importance: Spindle cell oncocytoma (SCO) of the pituitary gland is very difficult to differentiate from other pituitary neoplasms and is often misdiagnosed based on imaging procedure features. We report a rare case of SCO arising from the neurohypophysis and suggest a useful diagnostic criterion for accurate diagnosis and surgical pitfalls.

Case Presentation: A 53-year-old man was admitted to our hospital with slight headache and diplopia.

The Landscape of MYB/MYBL1- and Peri-MYB/MYBL1-Associated Rearrangements in Adenoid Cystic Carcinoma.

Approximately 60% of adenoid cystic carcinoma (AdCC) cases are positive for MYB::NFIB or MYBL1::NFIB, whereas MYB/MYBL1 oncoprotein, a key driver of AdCC, is overexpressed in most cases. Juxtaposition of superenhancer regions in NFIB and other genes into the MYB/MYBL1 locus is an attractive oncogenic hypothesis for AdCC cases, either negative or positive for MYB/MYBL1::NFIB. However, evidence supporting this hypothesis is insufficient.