Age-related demethylation of the TDP-43 autoregulatory region in the human motor cortex.

In amyotrophic lateral sclerosis (ALS), TAR DNA-binding protein 43 (TDP-43), which is encoded by TARDBP, forms aggregates in the motor cortex. This aggregate formation may be triggered by an increase in the TDP-43 level with aging. However, the amount of TDP-43 is autoregulated by alternative splicing of the TARDBP 3'UTR, and how this autoregulation is affected by aging remains to be elucidated.

Azathioprine-induced severe myelosuppression accompanied by massive hair loss and painful oral ulcer in an autoimmune hepatitis patient with minor variant: A case report.

This report highlights azathioprine-induced severe myelosuppression in the patient with NUDT15 minor variant. This case report is particularly instructive because several typical symptoms are the clues to this critical adverse drug reaction.

Utility of progesterone receptor-ires-Cre to generate conditional knockout mice for uterine study.

In mice, the conditional knockout strategy using the Cre-loxP system is useful for various types of research. The Cre mouse line with progesterone receptor promoter (Pgr ) has been widely used to produce specific uterine gene-deficient mice, but in the Cre line, endogenous Pgr gene is replaced by Cre recombinase gene, which makes the breeding of homozygous mice (Pgr ) difficult because they are infertile. Yang et al.

A case of primary CNS embryonal rhabdomyosarcoma with PAX3-NCOA2 fusion and systematic meta-review.

Purpose: Primary central nervous system (CNS) rhabdomyosarcoma is a rare mesenchymal tumor predominantly seen in children and associated with a poor outcome. We report a case of primary CNS rhabdomyosarcoma with PAX3-NCOA2 fusion and present a systematic meta-review of primary CNS rhabdomyosarcoma to characterize this rare tumor.

Methods: We present the case of a 6-year-old boy with primary CNS rhabdomyosarcoma in the posterior fossa.

Epidemiology of Developmental Dysplasia of the Hip: Analysis of Japanese National Database.

Background: Developmental dysplasia of the hip (DDH) is a cluster of hip development disorders that affects infants. The incidence of DDH-related dislocation (DDH-dislocation) is reportedly 0.1-0.

On the Complexity of Resting State Spiking Activity in Monkey Motor Cortex.

Resting state has been established as a classical paradigm of brain activity studies, mostly based on large-scale measurements such as functional magnetic resonance imaging or magneto- and electroencephalography. This term typically refers to a behavioral state characterized by the absence of any task or stimuli. The corresponding neuronal activity is often called idle or ongoing.

The first survey about women doctors in the Japanese Society for Pediatric Endocrinology (JSPE).

The Career Development for Women Pediatric Endocrinologists and Work-Life Balance Committee and Support Team for Women Doctors in Education and Training Committee investigated the current situation of women doctors in the Japanese Society for Pediatric Endocrinology (JSPE). The proportion of women doctors (PWD) was as follows. 1) Members of JSPE: 40.

Diagnostic delay of acute mitral regurgitation during the coronavirus disease 2019 pandemic: a case report.

Background: Diagnostic errors or delays can cause serious consequences for patient safety, especially in the emergency department. Anchoring bias is one of the major factors leading to diagnostic error. During the coronavirus disease 2019 (COVID-19) pandemic, the high probability of COVID-19 in febrile patients could be a major cause of anchoring bias leading to diagnostic error.

Chromosomal analyses of human giant diploid oocytes by next-generation sequencing.

Purpose: Although giant oocytes (GOs) having about twice cytoplasmic volume compared with general oocytes in mammals including the human are rarely recovered, it is thought that GOs have potentially chromosomal abnormalities. The aim of the present study was to assess chromosome numbers in chromosome-spindle complexes (CSCs) and polar bodies of human GOs by using micromanipulation for sampling and next-generation sequencing (NGS) for analyses of the chromosome numbers.

Methods: When recovered oocytes whose cytoplasm has lager than 140 µm or above, the oocytes were defined as GOs, and recovered GOs were vitrified.

Early response and safety of atezolizumab plus bevacizumab for unresectable hepatocellular carcinoma in patients who do not meet IMbrave150 eligibility criteria.

Aim: A clinical trial (IMbrave150) indicated the efficacy and safety of atezolizumab plus bevacizumab for patients with unresectable hepatocellular carcinoma (HCC). In this study, we evaluated this therapeutic combination in a real-world setting, with a focus on patients who did not meet the IMbrave150 eligibility criteria.

Methods: In this multicenter study, patients with unresectable HCC treated with atezolizumab plus bevacizumab between October 2020 and May 2021 were screened.

Th17/Treg-Related Intracellular Signaling in Patients with Chronic Obstructive Pulmonary Disease: Comparison between Local and Systemic Responses.

Th17/Treg imbalance plays a pivotal role in COPD development and progression. We aimed to assess Th17/Treg-related intracellular signaling at different COPD stages in local and systemic responses. Lung tissue and/or peripheral blood samples were collected and divided into non-obstructed (NOS), COPD stages I and II, and COPD stages III and IV groups.

The Effect of Changing Arterial Transducer Position on Stroke Volume Measurements Using FloTrac System Version 4.0: A Pilot Experimental Study.

Objectives: We conducted a pilot study using an experimental study protocol to evaluate the measurement error of arterial pulse contour analysis-derived stroke volume due to improper transducer leveling during the passive leg raising test and the impact of such error on the determination of fluid responsiveness.

Design: Prospective observational study.

Setting: A medical-surgical ICU at a tertiary referral center in Kobe, Japan.

Novel diagnostic and therapeutic approaches to pulmonary hypertension due to the unilateral absence of a pulmonary artery.

We report the case of a 64-year-old female diagnosed with severe pulmonary hypertension due to the unilateral absence of a pulmonary artery. The four-dimensional computed tomography scan is a useful modality for revealing detailed anatomical findings for differential diagnoses and surgical decision-making. The patient had severe pulmonary hypertension with a mean pulmonary artery pressure (PAP) of 74 mmHg and was treated with triple upfront combination therapy, leading to significant improvement in pulmonary haemodynamics (to 27 mmHg in mean PAP) and functional capacity (WHO functional class, from III to II; 6-min walk distance, from 211 to 276 m).

Clarithromycin As an Alternative and Prophylactic Agent in a Hematopoietic Stem Cell Transplantation Patient.

BACKGROUND Nocardia infections have rarely been reported in hematopoietic stem cell transplantation (HSCT) patients, who usually receive the prophylactic use of sulfamethoxazole/trimethoprim (ST) against Pneumocystis jiroveci. However, the ST prophylaxis, sensitive to Nocardia species, sometimes induces renal toxicities. Therefore, alternative prophylactic or therapeutic drugs are required for nocardiosis in HSCT patients.

Disseminated nontuberculous mycobacteriosis and fungemia after second delivery in a patient with MonoMAC syndrome/GATA2 mutation: a case report.

Background: Heterozygous mutations in the transcription factor GATA2 result in a wide spectrum of clinical phenotypes, including monocytopenia and Mycobacterium avium complex (MAC) infection (MonoMAC) syndrome. Patients with MonoMAC syndrome typically are infected by disseminated nontuberculous mycobacteria, fungi, and human papillomavirus, exhibit pulmonary alveolar proteinosis during late adolescence or early adulthood, and manifest with decreased content of dendritic cells (DCs), monocytes, and B and natural killer (NK) cells.

Case Presentation: A 39-year-old woman was diagnosed with MonoMAC syndrome postmortem.

Cytosolic dsDNA of mitochondrial origin induces cytotoxicity and neurodegeneration in cellular and zebrafish models of Parkinson's disease.

Mitochondrial dysfunction and lysosomal dysfunction have been implicated in Parkinson's disease (PD), but the links between these dysfunctions in PD pathogenesis are still largely unknown. Here we report that cytosolic dsDNA of mitochondrial origin escaping from lysosomal degradation was shown to induce cytotoxicity in cultured cells and PD phenotypes in vivo. The depletion of PINK1, GBA and/or ATP13A2 causes increases in cytosolic dsDNA of mitochondrial origin and induces type I interferon (IFN) responses and cell death in cultured cell lines.