Loss of Pax3 causes reduction of melanocytes in the developing mouse cochlea.

Cochlear melanocytes are intermediate cells in the stria vascularis that generate endocochlear potentials required for auditory function. Human PAX3 mutations cause Waardenburg syndrome and abnormalities of skin and retinal melanocytes, manifested as congenital hearing loss (~ 70%) and hypopigmentation of skin, hair and eyes. However, the underlying mechanism of hearing loss remains unclear.

A case of systemic lupus erythematosus in a patient with Noonan syndrome with recurrent severe hypoglycaemia.

Noonan syndrome (NS) is a dominantly inherited genetic disorder with mutations in genes encoding components or regulators of the Rat sarcoma virus/mitogen-activated protein kinase pathway. Its diagnosis is based on characteristic features, including typical facial features, a short stature, congenital heart disease, mild developmental delay, and cryptorchidism. Patients with NS sometimes develop autoimmune diseases, such as Hashimoto's thyroiditis and, rarely, systemic lupus erythematosus (SLE).

Educational strategies related to information science and technology for medical students: General medicine physicians' perspective.

The Model Core Curriculum for Medical Education in Japan was revised in 2022. It aimed to reflect changes in the nature of medical care, including the advancement of medical technology through the use of information science and technology and artificial intelligence in the Society 5.0 era.

Structural role of K224 in taniborbactam inhibition of NDM-1.

Taniborbactam (TAN; VNRX-5133) is a novel bicyclic boronic acid β-lactamase inhibitor (BLI) being developed in combination with cefepime (FEP). TAN inhibits both serine and some metallo-β-lactamases. Previously, the substitution R228L in VIM-24 was shown to increase activity against oxyimino-cephalosporins like FEP and ceftazidime (CAZ).

Organ Damage and Quality of Life in Takayasu Arteritis - Evidence From a National Registry Analysis.

Background: Takayasu arteritis, affecting primarily young women, damages large arteries and organs. We examined the impact of disease duration and sex on organ damage and quality of life using Japan's Intractable Disease Registry.

Methods and results: After refining data, 2,013 of 2,795 patients were included in the study.

Pseudomonas otitidis bacteremia in an immunocompromised patient with cellulitis: case report and literature review.

Background: Pseudomonas otitidis belongs to the genus Pseudomonas and causes various infections, including ear, skin, and soft tissue infections. P. otitidis has a unique susceptibility profile, being susceptible to penicillins and cephalosporins but resistant to carbapenems, due to the production of the metallo-β-lactamase called POM-1.

Therapeutic strategies to target connective tissue growth factor in fibrotic lung diseases.

The treatment of interstitial lung diseases, including idiopathic pulmonary fibrosis (IPF), remains challenging as current available antifibrotic agents are not effective in halting disease progression. Connective tissue growth factor (CTGF), also known as cellular communication factor 2 (CCN2), is a member of the CCN family of proteins that regulates cell signaling through cell surface receptors such as integrins, the activity of cytokines/growth factors, and the turnover of extracellular matrix (ECM) proteins. Accumulating evidence indicates that CTGF plays a crucial role in promoting lung fibrosis through multiple processes, including inducing transdifferentiation of fibroblasts to myofibroblasts, epithelial-mesenchymal transition (EMT), and cooperating with other fibrotic mediators such as TGF-β.

Normative Modeling of Brain Morphometry in Clinical High Risk for Psychosis.

Importance: The lack of robust neuroanatomical markers of psychosis risk has been traditionally attributed to heterogeneity. A complementary hypothesis is that variation in neuroanatomical measures in individuals at psychosis risk may be nested within the range observed in healthy individuals.

Objective: To quantify deviations from the normative range of neuroanatomical variation in individuals at clinical high risk for psychosis (CHR-P) and evaluate their overlap with healthy variation and their association with positive symptoms, cognition, and conversion to a psychotic disorder.

Bioarchaeological study of ancient Teotihuacans based on complete mitochondrial genome sequences and diet isotopes.

Background: The Teotihuacan civilisation was the largest one in ancient Mesoamerica. The Teotihuacan city was born in the north-eastern Basin of Mexico around the second century BC, reached its peak in the fourth century AD, and had cultural influence throughout Mesoamerica. At its peak, the size of the city reached more than 20 km, and the total population is estimated to have increased from 100,000 to 200,000.

Association of illness perception and alexithymia with fatigue in hemodialysis recipients: a single-center, cross-sectional study.

Fatigue in hemodialysis recipients interferes with daily activities and renal rehabilitation, and its underlying causes and treatment remain unclear. Psychological factors, like illness perceptions and alexithymia, cause fatigue in other diseases; however, their contribution to hemodialysis-related fatigue is unknown. This cross-sectional study included 53 hemodialysis recipients.

Isolated bilateral posterior semicircular canal hypofunction: comparison with bilateral vestibulopathy.

Background: Chronic unsteadiness is a common complaint at vestibular clinics. Bilateral vestibulopathy (BVP) is a major cause of chronic unsteadiness but is often overlooked. Although diagnostic criteria for BVP have been established by the Barany Society, isolated vertical canal hypofunction can remain undiagnosed.

Contributions of Japanese Hospitalists During the COVID-19 Pandemic and the Need for Infectious Disease Crisis Management Education for Hospitalists: An Online Cross-Sectional Study.

Introduction: Hospitalists in Japan have been at the forefront of the COVID-19 pandemic. However, contributions of Japanese hospitalists during the COVID-19 pandemic and hospitalists' awareness of crisis management education remain unclear.

Material And Methods: We conducted a questionnaire survey to investigate the role of Japanese hospitalists during the COVID-19 pandemic.

Cost of illness for colorectal cancer in Japan - a time trend and future projections (1996-2035) based on governmental statistics.

Background: In Japan, the crude mortality rate of colorectal cancer is the second highest among men and highest among women by site. We aimed to calculate the social burden of colorectal cancer using the cost of illness (COI) method and identify the main factors that drove changes in the COI.

Methods: From 1996 to 2020, the COI was estimated by summing direct, morbidity, and mortality costs.

Epidemiological analysis and antimicrobial susceptibility profile of Gram-negative bacilli that cause bacteremia in Japan.

We investigated the epidemiology and antimicrobial susceptibility profiles of seven major Gram-negative bacilli (Escherichia coli, Klebsiella spp., Enterobacter spp., Pseudomonas aeruginosa, Acinetobacter spp.

Diversity of genes in species: insights from genome analysis of publicly available genome sequences.

L1 metallo-β-lactamases produced by exhibit high diversity. Here, we characterized the genomes of species harboring genes using publicly available genome sequences. Our findings provide evidence that species with genes constitute a complex comprising many species with high genetic diversity, and similarities between genes are lower than those of the genome.

Upregulation of long non‑coding RNA LINC00460 in EGFR‑mutant lung cancer indicates a poor prognosis in patients treated with osimertinib.

The long non-coding RNA (lncRNA) LINC00460 is involved in tumor growth, metastasis and drug resistance. The present study investigated the clinical significance of LINC00460 expression in patients with epidermal growth factor receptor () mutation-positive lung cancer treated with osimertinib. Osimertinib-resistant cells we derived from -mutant non-small-cell lung cancer (NSCLC) cell lines, after which, small interfering RNA (siRNA)-mediated silencing and -transcribed (IVT), synthetic LINC00460 RNA transfection were used to investigate the effects of LINC00460 expression on acquired resistance to osimertinib.

Educational strategies for general medicine education in accordance with the model core curriculum for medical education in Japan.

In Japan, the Model Core Curriculum for Medical Education, which is the National Model COre CUrriculum for Undergraduate Medical Education, was first published in 2001 and has since been revised to meet the needs of an aged society and the global standardization of medical education. A new quality and ability "Generalism," which is a comprehensive attitude toward patients, has been added to this revision of the model core curriculum. In this letter, we propose an educational strategy for generalism.

High prevalence of colistin heteroresistance in specific species and lineages of Enterobacter cloacae complex derived from human clinical specimens.

Background: Colistin (CST) is a last-line drug for multidrug-resistant Gram-negative bacterial infections. CST-heteroresistant Enterobacter cloacae complex (ECC) has been isolated. However, integrated analysis of epidemiology and resistance mechanisms based on the complete ECC species identification has not been performed.

Carboplatin and weekly paclitaxel in combination with bevacizumab for the treatment of advanced non-small cell lung cancer complicated by idiopathic interstitial pneumonias: A feasibility study.

Background: Idiopathic interstitial pneumonias are an independent risk factor of lung cancer, and a chemotherapy-induced acute exacerbation is the most common lethal complication in Japanese patients. The safety and efficacy of carboplatin and weekly paclitaxel for the treatment of non-small cell lung cancer with idiopathic interstitial pneumonias has been previously reported in prospective studies. However, carboplatin + paclitaxel with bevacizumab is currently the standard therapy.

Diversity in matrilineages among the Jomon individuals of Japan.

Background: The Jomon period of Japan is characterised by a unique combination of sedentary and hunting/gathering lifestyles, spanning for more than 10,000 years from the final Pleistocene to the Holocene. The transition from the preceding Palaeolithic period to the Jomon period is known to have begun with the appearance of pottery usage. However, knowledge of the genetic background of the Jomon people is still limited.