A mutant BCL11B-N440K protein interferes with BCL11A function during T lymphocyte and neuronal development.

Genetic studies in mice have shown that the zinc finger transcription factor BCL11B has an essential role in regulating early T cell development and neurogenesis. A de novo heterozygous missense BCL11B variant, BCL11B, was isolated from a patient with T cell deficiency and neurological disorders. Here, we show that mice harboring the corresponding Bcl11b mutation show the emergence of natural killer (NK)/group 1 innate lymphoid cell (ILC1)-like NKp46 cells in the thymus and reduction in TBR1 neurons in the neocortex, which are observed with loss of Bcl11a but not Bcl11b.

Effect of early tethered cord release on urodynamic findings and lower urinary tract function in myelomeningocele patients.

Objective: Detecting neurological deterioration and diagnosing tethered cord syndrome (TCS) in patients with myelomeningocele (MMC) can be challenging due to the presence of symptoms at birth and the lack of objective indicators. This retrospective analysis focused on urological manifestations and evaluated whether tethered cord release (TCR) for TCS at an early stage could improve or stabilize video urodynamic study (VUDS) findings and lower urinary tract function.

Methods: This study analyzed 55 of 64 children who underwent MMC repair at Miyagi Children's Hospital, Sendai, Japan, between 2003 and 2016.

Effects of Palliative Surgical Treatment for Spinal Metastases on the Patient's Quality of Life With a Focus on the Segment of the Metastasis: A Prospective Multicenter Study.

Study Design: Prospective multicenter study.

Objectives: Palliative surgery is crucial for maintaining the quality of life (QOL) in patients with spinal metastases. This study aimed to compare the short-term outcomes of QOL after palliative surgery between patients with metastatic spinal tumors at different segments.

Orthodontic management of severe inversely impacted maxillary central incisors: a case series.

Background: Abnormal positioning and dislocation of the central incisor can disturb tooth eruption. Generally, inversely impacted maxillary central incisors do not erupt naturally. Performing traction and applied extrusion of an inversely impacted maxillary central incisor with a high inclination angle of the crown is challenging.

Borderline Range Determined Using Data From Validation Study of Alternative Methods for Skin Sensitization: ADRA, IL-8 Luc Assay, and EpiSensA.

Most predictive models that use alternatives to animal experiments divide judgements into two classes with a cutoff value for each model. However, if the results of alternative methods are close to the cutoff values, the true result may be ambiguous because of variability in the data. Therefore, the OECD GL497 uses a judgement method that establishes a borderline range (BR) around a cutoff value using a statistical method.

Improving Balloon Pulmonary Angioplasty Through Target Endpoint Optimization With Pressure Catheter and Angiographic Lung Perfusion.

Background: Balloon pulmonary angioplasty (BPA) has exhibited substantial progress in the management of chronic thromboembolic pulmonary hypertension (CTEPH). However, nearly one-half of the patients with CTEPH experience persistent pulmonary hypertension after undergoing BPA, emphasizing the need for enhanced therapies.

Objectives: The authors sought to investigate the clinical significance of functional assessment-guided dilation of the pulmonary artery (PA) in patients with CTEPH undergoing BPA treatment.

Successful Treatment of Unresectable L63*-Mutated Basal Cell Carcinoma Invading the Parietal Bone with Cisplatin and Fluorouracil: A Case Report.

Introduction: Basal cell carcinoma (BCC) is a common skin cancer that rarely metastasizes but can deeply infiltrate local tissues. The small number of unresectable BCC cases makes it difficult to conduct clinical trials, resulting in delays in the development of effective drugs for BCC. Cancer gene panel testing has led to an increasing number of new treatment proposals for patients with solid tumors for whom no standard treatment is available.

Causes of death in Japanese patients with diabetes based on the results of survey of 68,555 cases during 2011-2020: committee report on causes of death in diabetes mellitus, Japan Diabetes Society (English version).

The principal causes of death among 68,555 patients with diabetes and 164,621 patients without diabetes who died in 208 hospitals throughout Japan between 2011 and 2020 were determined based on a survey of hospital records. 1. The most frequent cause of death in patients with diabetes was malignant neoplasms (38.

A case of Cushing's syndrome in a pregnant woman associated with hypertension, hypokalemia, and gestational diabetes mellitus.

We report the case of a 33-year-old woman who was referred to the department of endocrinology and diagnosed with gestational diabetes mellitus (GDM). She had been hypertensive from 20 weeks of pregnancy. A 75 g oral glucose tolerance test for screening of GDM at 26 weeks of pregnancy revealed positive results at two points: 183 mg/dL at 60 min, and 193 mg/dL at 90 min.

Comorbidities in Japanese testicular cancer survivors: A multi-institutional, cross-sectional study.

Objective: To evaluate comorbidities in Japanese testicular cancer (TC) survivors in a multi-institutional, cross-sectional study.

Methods: This study enrolled TC survivors who visited any of the eight high-volume institutions in Japan from 2018 to 2019. After obtaining informed consent, participants answered questionnaires about their comorbidities.

Abstract Versus Concrete Risk Identification in Clinical Research in Japan: Randomized and Prospective Pilot Research on the Effect of Risk Reduction Activities in a Risk-Based Approach.

Background: The risk-based approach (RBA) of clinical trial was first introduced in 2011-2012. RBA necessitates implementing risk reduction activities that are proportionate to risk in order to reduce avoidable quality issues. However, there is no consistent methodology or research for identifying and evaluating risks and planning risk reduction activities.

Response accuracy of GPT-4 across languages: insights from an expert-level diagnostic radiology examination in Japan.

Purpose: This study aims to investigate the effects of language selection and translation quality on Generative Pre-trained Transformer-4 (GPT-4)'s response accuracy to expert-level diagnostic radiology questions.

Materials And Methods: We analyzed 146 diagnostic radiology questions from the Japan Radiology Board Examination (2020-2022), with consensus answers provided by two board-certified radiologists. The questions, originally in Japanese, were translated into English by GPT-4 and DeepL and into German and Chinese by GPT-4.

Home blood pressure control and prescribing patterns of anti-hypertensive medications in a home blood pressure-based hypertension-specialized clinic in Japan: a sub-analysis of the Ohasama study.

Although the benefits of anti-hypertensive treatment are well known, the proportion of hypertensive patients with controlled blood pressure (BP) remains suboptimal. The present study aimed to compare BP control conditions in a hypertension-specialized clinic and non-hypertension-specialized clinics. This cross-sectional study used data from 379 treated patients who measured home BP in the Ohasama study between 2016 and 2019 (men: 43.

Impact of Aging and Knee Osteoarthritis on Lower Limb Alignment and CPAK Classification: Gender Differences in a Japanese Cohort.

This study investigates the impact of age and knee osteoarthritis (OA) on the coronal plane alignment of the lower extremity in Japanese males and females, utilizing the Coronal Plane Alignment of the Knee (CPAK) classification system. A cross-sectional analysis was conducted with 150 male and 150 female patients. Participants were divided into three groups according to age and OA progression.

Validating the Definition of Lumbar Instability-A Cross-Sectional Study with 420 Healthy Volunteers.

: Low back pain is thought to be caused by lumbar instability. To date, multiple definitions of radiological lumbar instability have been used without verifying the "normal range" of the lumbar segmental mobility. Ideally, normative data for lumbar mobility in healthy individuals are required to establish an acceptable threshold for lumbar instability.

Effectiveness of CI as an alternative to ABI for hearing loss in patients with vestibular schwannomas: A multicenter study in Japan.

Objective: NF2-related schwannomatosis (NF2) is characterized by bilateral vestibular schwannomas (VS), often causing severe damage to the bilateral auditory function. Auditory brainstem implantation (ABI) provides hearing-impaired patients with an opportunity to reacquire auditory sensation through electrical stimulation of auditory neurons in the cochlear nucleus. However, ABI is not covered by public health insurance in Japan, leading to a large difference in financial burden compared to cochlear implantation (CI).

Is seated voiding associated with lower urinary tract symptoms, health conditions, or marital status? Findings by age group from the 2023 Japan Community Health Survey.

Objectives: Seated voiding may be an attempt to obviate voiding dysfunction, improve physical stability during voiding, and prevent messy bathroom contamination. Therefore, we hypothesized that seated voiders had a higher prevalence of lower urinary tract symptoms (LUTS), deteriorating health conditions, and a higher marriage rate than standing voiders.

Methods: Of the participants from the 2023 Japan Community Health Survey conducted by the Japanese Continence Society, 2936 men (mean age: 53.

Phototriggered Hydrogen Persulfide Donors via Hydrosulfide Radical Formation Enhancing the Reactive Sulfur Metabolome in Cells.

Hydrogen persulfide (HS) is an important sulfur-containing signaling molecule that plays a crucial role in the homeostasis of various organ systems, such as the renal, cardiovascular, liver, and gastrointestinal systems. However, research on HS in biological settings is still challenging due to its instability and high reactivity. Compounds that can controllably release HS (also known as donors) are thus crucial research tools.

The impact of adverse childhood experiences on adult physical, mental health, and abuse behaviors: A sex-stratified nationwide latent class analysis in Japan.

Adverse childhood experiences (ACEs) have been reported to detrimentally impact physical and mental health. While experiencing multiple ACEs is common, previous research primarily assessed ACEs by their total count, neglecting the impacts of different experience types. Furthermore, sex-based differences in ACEs and their influences remain unclear.

Pharmacological inhibition of histamine N-methyltransferase extends wakefulness and suppresses cataplexy in a mouse model of narcolepsy.

Histamine, a neurotransmitter, plays a predominant role in maintaining wakefulness. Furthermore, our previous studies showed that histamine N-methyltransferase (HNMT), a histamine-metabolizing enzyme, is important for regulating brain histamine concentration. However, the effects of pharmacological HNMT inhibition on mouse behavior, including the sleep-wake cycle and cataplexy, in a mouse model of narcolepsy have not yet been investigated.

Prescription trends in Japanese advanced Parkinson's disease patients with non-motor symptoms: J-FIRST.

Background: Non-motor symptoms (NMS) are important factors when selecting treatments for patients with advanced Parkinson's disease (PD). We sought to elucidate the prescribing practices for advanced PD patients with NMS in Japanese clinical practice.

Methods: We examined the prescription rates and doses of anti-PD drugs, and the use of non-steroidal anti-inflammatory drugs (NSAIDs) in post hoc analyses of a 52-week observational study of 996 PD patients with wearing-off on levodopa-containing therapy and ≥1 NMS.