DHX37 variants in patients with 46,XY disorders or differences of sex development.

Here, using whole-exome sequencing of a cohort of 17 Japanese patients with 46,XY disorders or differences of sex development, we identified two pathogenic DEAH-box helicase 37 (DHX37) variants in three patients. We also identified a patient with a likely pathogenic variant in SOX9 and a rare likely benign variant in DHX37. This Data Report highlights the genetic and phenotypic diversity of DXH37 variants.

The Transventricular Preforniceal Approach Can Be Used in Cases Where the Space between the Anterior Commissure and the Venous Angle Is Enlarged.

Surgical treatment for tumors located at the third ventricle and/or hypothalamic regions is significantly challenging due to the surrounding crucial neural and vascular structures. In 2013, the transventricular preforniceal approach was reported for exophytic chiasmatic/hypothalamic astrocytomas extending into the anterior third ventricle. Although this approach may be safe and effective for selected patients, this approach can only be applied when the space between the anterior commissure and the fornix is stretched by the tumor.

Chemical properties and biological activities of three highly purified major tetrodotoxin analogues.

Tetrodotoxin (TTX), the pufferfish toxin, has the potential to cause fatal food poisoning because of its potent voltage-gated sodium channel (Na) blocking activity. 4-epiTTX, 11-norTTX-6(S)-ol, and 11-oxoTTX are the major TTX analogues found in marine animals; thus, their chemical properties and biological activities should be determined. In this study, these three TTX analogues were purified to a high level (purity >97%) from pufferfish and newts.

[Turnover intentions of public health nurses after responding to COVID-19: A comparison with 10 years ago (A report of the Committee on Public Health Nursing 2022/2023 survey)].

Objectives　This study aimed to determine how turnover intentions among public health nurses have changed following their coronavirus disease 2019 (COVID-19) response compared to 10 years ago, using propensity score matching.Methods　As part of the Committee on Public Health Nursing's 2022/2023 activities, we conducted a repeated cross-sectional survey among public health nurses based on the Job Demands-Resources Model, a theoretical framework for turnover intentions. We collected cross-sectional observational data from periods before and after the COVID-19 outbreak.

Study Profile of the Iwate PGS Assessment and Risk Communication (PARC) Study.

Background: The potential impacts of polygenic scores (PGS) on health-behavior changes are not fully understood. The Iwate PGS Assessment and Risk Communication Study aims to investigate the effects of reporting PGS-based risk for ischemic stroke on health behaviors.

Methods: Participants wishing to know their PGS-based ischemic stroke risk were recruited from health checkup venues for workers in Iwate Prefecture in 2023.

Validity of a self-administered food frequency questionnaire for assessing carotenoid intakes using serum biomarkers in Japan: the Tohoku Medical Megabank Project.

Background: More research is needed to clarify the health effects of dietary carotenoid intakes, and this requires the use of high-quality assessments of habitual dietary intake. Cohort studies from the Tohoku Medical Megabank Organization included a self-administered food frequency questionnaire (TMM-FFQ) for community-dwelling adults. This study evaluated the validity of carotenoid intakes derived from the TMM-FFQ using serum carotenoid concentrations as the gold standard.

A Phosphorus(V)-Centered Porphyrin Having Redox- and Air-Stable Axial P-H Bonds.

Phosphorus(V)-centered porphyrins (P(V)-porphyrins) are an important class of functional dyes in many fields of research, and axial ligands on the phosphorus atom affect the electronic properties of P(V)-porphyrins and add functions. Herein, we report on the synthesis and characterization of a hitherto unknown P(V)-porphyrin having hydrogen atoms as axial ligands (1·PF , PF is a counter anion). Synthesis of 1·PF was achieved by treatment of dichloro-derivative (2·Cl) with LiAlH followed by AgPF via hydride reduction accompanied by one-electron reduction and one-electron oxidation.

Long-range viscosity of the plasma membrane of a living cell measured by a shear-driven flow method.

The viscosity of the plasma membrane in living cells is a crucial biophysical parameter that regulates cellular functions. We categorize the plasma membrane viscosity into short-range and long-range viscosities based on the spatial scale of the cellular processes they influence. Short-range viscosity originates from the Brownian motion of membrane molecules, i.

Thromboembolic risks after knee arthroplasty in patients with severe obesity: A large-scale analysis using Japanese medical claims data.

Background: Obesity is associated with an increased risk of complications after total knee arthroplasty (TKA) and unicompartmental knee arthroplasty (UKA), particularly in Western populations. However, the effect of severe obesity (body mass index [BMI] ≥ 35 kg/m) on postoperative complications in Japanese patients remains unclear.

Methods: We conducted a retrospective cohort study using Japan's Diagnosis Procedure Combination (DPC) database, including patients who underwent TKA or UKA between April 2016 and March 2023.

Epidemiology and risk factors of hallux valgus in Japanese population: HAPPI study.

Introduction: Hallux valgus (HV) is a common foot deformity characterized by lateral deviation of the great toe. Despite known associations with gender, age, and footwear, the prevalence of HV and its associated risk factors in Japan remain unclear. We conducted the first-ever prospective population-based cohort study (HAPPI study) in Japan to elucidate the prevalence of HV and identify its associated risk factors.

Frequency of laughter and depression onset among older adults: A 6-year longitudinal study from the Japan Gerontological Evaluation Study.

Background: Laughter has been associated with mental and physical health benefits, but longitudinal evidence on whether laughter in daily life protects against depression remain limited. This study aimed to examine whether the frequency of laughter in daily life is associated with the risk of depression onset among older adults.

Methods: We analyzed data from 32,666 adults aged ≥65 years participating in the Japan Gerontological Evaluation Study, a three-wave cohort conducted over six-years.

The role of ammonia in virus inactivation: A systematic and meta-analysis review.

Ammonia (NH), a naturally occurring disinfectant in wastewater, plays an important role in inactivating pathogens, including viruses. Despite its importance in non-sewered sanitation systems, the inactivation rate constant attributed solely to ammonia ( [Formula: see text] ) remains unclear, owing to the diverse range of disinfection conditions in existing studies. Determining [Formula: see text] is critical for quantifying the contribution of ammonia to viral inactivation and distinguishing it from other environmental factors.

Clinicopathologic features and contralateral breast cancer risk in BRCA1/2 pathogenic variant carriers: a multicenter registry study of Japanese women.

Purpose: This large-scale study presents the clinicopathological characteristics and cumulative incidence of contralateral breast cancer (CBC) in Japanese BRCA1/2 pathogenic variant carriers, including cases diagnosed after the implementation of national insurance coverage.

Methods: We analyzed 2949 breast cancer cases from the registry database of the Japanese Organization of Hereditary Breast and Ovarian Cancer.

Results: BRCA1 carriers predominantly developed triple-negative breast cancer, whereas BRCA2 carriers more frequently developed luminal-type tumors, with a younger age of onset observed in BRCA1 carriers.

Combination chemotherapy for older patients with unresectable biliary tract cancer: a prospective observational study using propensity-score matched analysis (JON2104-B).

Background: Systemic chemotherapy with gemcitabine plus S-1 (GEM + S-1), GEM + CDDP plus S-1 (GEM + CDDP + S-1), or gemcitabine plus cisplatin (GEM + CDDP) is standard treatment for advanced biliary tract cancer (aBTC). We aimed to evaluate the efficacy and safety of combination chemotherapy in older patients with aBTC.

Methods: This multicenter prospective observational study (JON2104-B, UMIN000045156) included patients aged ≥ 70 years with aBTC.

Operando Evaluation of the Electrochemically Active Area in a Solid Oxide Fuel Cell Porous Electrode by Micro X-ray Absorption Spectroscopy.

An operando X-ray absorption spectroscopic technique, which enables us to measure X-ray absorption spectra with a position resolution of submicrometers at increased temperatures while controlling atmospheres and passing an electrical current through the specimen, was developed. By applying this technique, the electrochemically active area in a porous LaSrCoO electrode for a solid oxide fuel cell (SOFC) was experimentally and directly evaluated for the first time. The characteristic length of the active area was approximately 1 μm from the electrode-electrolyte interface under a cathodic overpotential of 140 mV at 873 K under 10 bar of (O), although the investigated electrode was thicker than 50 μm.

Perturbation of the ovine placental transcriptome occurs at sub-therapeutic exposures to antenatal steroid therapy.

Introduction: Antenatal steroid (ANS) therapy accelerates preterm lung maturation. Clinical and experimental data show current regimens disrupt placental function and transport and impact fetal growth. We have previously shown that higher materno-fetal steroid exposures increase fetal glucocorticoid clearance.

Loss-Prone HLA Class I Alleles Inform Outcomes of Early Hematopoietic Cell Transplantation in Acquired Aplastic Anemia.

HLA class I allele loss in acquired aplastic anemia (AA) represents an immune escape from the T cell-mediated pathogenesis. We investigated the impact of loss-prone HLA alleles on the hematopoietic cell transplantation (HCT) outcomes using registry data of 875 Japanese patients with acquired AA. HLA associations were evident exclusively among 399 patients who received HCT within 1 year of the diagnosis, consistent with the predominance of HLA loss in this group.

Genetic design of soybean hosts and bradyrhizobial endosymbionts reduces NO emissions from soybean rhizosphere.

Soybeans fix atmospheric N through symbiosis with rhizobia. The relationship between rhizobia and soybeans, particularly those with high nitrous oxide (NO)-reducing (NOR) activities, can be leveraged to reduce NO emissions from agricultural soils. However, inoculating soybeans with these rhizobia under field conditions often fails because of the competition from indigenous rhizobia that possess low or no NOR activity.

Plastic surgery-maxillofacial prosthetics collaboration for facial prostheses for a patient with changes in facial morphology: A clinical report.

A 63-year-old man underwent extensive maxillectomy, followed by reconstruction using a rectus abdominis musculocutaneous free flap. Subsequently, he received guided flap-correction surgery to insert a facial prosthesis. Over time, the initial prosthesis became inadequate because of morphological changes and color mismatch caused by seasonal variations in skin tone.

Outcomes of FOLFIRINOX versus gemcitabine plus nab-paclitaxel in patients with early recurrent pancreatic cancer after adjuvant S-1 treatment: A propensity score-matched analysis.

Background: Oral fluoropyrimidine, S-1 is the standard adjuvant chemotherapy for patients with resected pancreatic cancer (PC) in Japan. Patients experiencing early recurrence are typically treated with 5-fluorouracil, leucovorin, irinotecan, and oxaliplatin (FOLFIRINOX) or gemcitabine plus nab-paclitaxel (GnP), which are commonly used in patients with advanced PC. However, no clinical studies have compared these regimens in this particular population.

Integrative taxonomy reveals Parakaliella harimensis (Pilsbry, 1901) as a distinct East Asian Euconulus species with deep genetic structure.

The remarkable phenotypic plasticity of land snail shells often results in convergent evolution, leading to frequent taxonomic misidentifications and non-monophyletic classifications. The taxonomy of the Holarctic micro land snails related to Euconulus fulvus has been particularly challenging to resolve. This study integrates mitochondrial and nuclear DNA phylogenetics, geometric morphometrics, and climate suitability modeling to clarify the phylogenetic and taxonomic status of an East Asian lineage within this group.

Use of cartilage-conduction hearing aids in a child with Crouzon syndrome and meatal atresia.

A cartilage-conduction hearing aid (CCHA) transmits sound vibrations to the inner ear via the ear cartilage rather than through air or bone. They can be used in patients with meatal atresia and persistent otorrhea. Unlike bone-conduction hearing aid (BCHA), there is no need for pressure between the transducer and the temporal bone.

Unveiling the X-ray-Induced Rabi Dynamics in Resonant Auger Fragment Spectra.

Vibrationally resolved resonant Auger spectroscopy (RAS) on bound-continuum transitions enables highly sensitive probing of ultrafast dissociation in molecular core-excited states, where a distinct fragment band arises from Auger decay in dissociation fragments. Here, we theoretically investigate fragment band formation driven by ultrashort X-ray pulses. Unlike conventional molecular bands, fragment RAS peaks exhibit an insensitivity to strong X-ray Rabi oscillations.

Breast cancer classification based on the integration of diagnostic algorithms for calcifications and masses using a mixture of experts.

Purpose: To investigate the effectiveness of an integrated deep-learning (DL) algorithm, the Mixture of Radiological Findings Specific Experts (MoRFSE), in breast cancer classification by imitating the diagnostic decision-making process of radiologists.

Methods: A total of 2,764 mammographic images (1,462 breast cancer, 248 benign lesions, and 1,054 normal breast tissue) from the TOMPEI-CMMD were used. The MoRFSE comprises three DL models: a gate network for categorization (gNet) and two classification expert networks (cExp and mExp) specialized in capturing the distinct characteristics of calcifications and masses, respectively.