Surgical management of endometrial cancer in patient with musculocontractural Ehlers-Danlos Syndrome harboring pathogenic variants in CHST14 (mcEDS-CHST14): A case report.

Introduction: Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare autosomal recessive connective tissue disorder caused by systemic depletion of dermatan sulfate. Symptoms characteristic of mcEDS include multiple contractures, fragile skin with subcutaneous bleeding, and hypermobile joints, which suggest difficulty in perioperative management. However, safe surgical techniques and perioperative management of this disorder remain unknown because of its rarity.

[Guidelines for presymptomatic genetic testing for adult-onset hereditary neuromuscular diseases in Japan].

In Japan, there are no nationwide guidelines for presymptomatic testing for hereditary neuromuscular diseases. Although each institution has been dealing with this situation by using their own procedures to date, it is necessary to develop a standardized guidelines based on the Japanese medical system, because the development of disease-modifying therapies has progressed, and we are entering an era in which early diagnosis and early treatment are necessary. The guidelines presented here were devised by the Committee on Medical Genetics of the Japan Neurological Society.

The Prevalence and Clinical Characteristics of -Associated Hearing Loss in 15,684 Hearing Loss Patients.

belongs to the unconventional myosin superfamily, and the myosin IIIa protein localizes on the tip of the stereocilia of vestibular and cochlear hair cells. Deficiencies in have been reported to cause the deformation of hair cells into abnormally long stereocilia with an increase in spacing. is a rare causative gene of autosomal recessive sensorineural hearing loss (DFNB30), with only 13 cases reported to date.

Novel Variants and Clinical Features of Hearing Loss in a Large Japanese Cohort.

Background/objectives: The gene is responsible for autosomal recessive non-syndromic sensorineural hearing loss and is assigned as DFNB18B. To date, 44 causative variants have been reported to cause non-syndromic hearing loss. However, the detailed clinical features for -associated hearing loss remain unclear.

The Heterozygous p.A684V Variant in the Gene Is a Mutational Hotspot Causing a Severe Hearing Loss Phenotype.

Background/objectives: A heterozygous mutation in the gene is responsible for autosomal dominant non-syndromic hearing loss (DFNA6/14/38) and Wolfram-like syndrome, which is characterized by bilateral sensorineural hearing loss with optic atrophy and/or diabetes mellitus. However, detailed clinical features for the patients with the heterozygous p.A684V variant remain unknown.

Quantitative Evaluation of 99mTc-Galactosyl Human Serum Albumin SPECT/CT for the Prediction of Posthepatectomy Liver Failure.

Purpose: To evaluate the predictive ability of 99mTc-galactosyl human serum albumin SPECT/CT quantitative parameters for posthepatectomy liver failure (PHLF).

Methods: Sixty-eight patients who underwent 99mTc-galactosyl human serum albumin scintigraphy as a preoperative examination for hepatectomy between July 2021 and December 2023 were prospectively evaluated. The patients were divided into PHLF and non-PHLF groups.

Immune evasion through mitochondrial transfer in the tumour microenvironment.

Cancer cells in the tumour microenvironment use various mechanisms to evade the immune system, particularly T cell attack. For example, metabolic reprogramming in the tumour microenvironment and mitochondrial dysfunction in tumour-infiltrating lymphocytes (TILs) impair antitumour immune responses. However, detailed mechanisms of such processes remain unclear.

Longitudinal evaluation of cotton wool spot following rapid glycemic improvement using wide-field multimodal imaging.

Purpose: To report a case of a diabetic patient undergoing rapid glycemic improvement characterized by the development and resolution of cotton wool spot (CWS), with detailed structural and vascular assessment using wide-field multimodal imaging, including wide-field color fundus photography and wide-field optical coherence tomography angiography (OCTA).

Observations: A 47-year-old man with poorly controlled Type 2 diabetes mellitus developed CWS in his right eye 3 months after initiating insulin therapy, which coincided with a significant reduction in HbA1c levels. Wide-field color fundus photography and wide-field OCTA were performed before, during, and after CWS appeared.

Increased Non-Relapse Mortality in Older People With Allogeneic Hematopoietic Stem Cell Transplantation Using Fludarabine and Myeloablative Dose of Busulfan-Based Regimen.

Fludarabine and myeloablative busulfan (FluBu4) in allogeneic hematopoietic stem cell transplantation (HSCT) for older people have not been adequately examined. This retrospective study analyzed data from a large-scale, nationwide database in Japan. Adult patients (> 15 years old, y/o) who received their first HSCT with FluBu4 for hematological malignancies were included.

Phenotypic simulation for fruit-related traits in F progenies of chili peppers (Capsicum annuum) using genomic prediction based solely on parental information.

Chili pepper (Capsicum spp.) fruits are used as vegetables, spices, and ornamental plants, necessitating various fruit characteristics. However, their genetic improvement is challenging through conventional crossbreeding due to the quantitative traits, which makes it difficult to predict phenotypes in the progeny.

Impact of preoperative brain natriuretic peptide level for predicting postoperative respiratory complications.

Background: Predicting respiratory complications after pulmonary surgery is important for thoracic surgeons. This study aimed to clarify the relationship between preoperative brain natriuretic peptide (BNP) levels and postoperative respiratory complications (PRC).

Methods: A total of 383 patients with primary or metastatic lung cancer who underwent surgical resection were included in this retrospective study.

Treatment Patterns, Characteristics, and Probable Acute Medication Overprescription Among Patients With Migraine in Japan: A Retrospective Cross-Sectional and Longitudinal Analysis of Health Insurance Claims Data.

Objective This study aimed to investigate prescription patterns for migraine patients aged 18 years and older using the REZULT database, managed by Japan System Techniques Co., Ltd. in Tokyo, Japan.

Histological Changes of the Mucosal Epithelium in the Chicken Intestine during Pre- and Post-Hatching Stages.

This study clarified the histological changes in the mucosal epithelium of the chicken intestine during the pre- and post-hatching stages. The duodenum, jejunum, ileum, and colorectum were collected from embryos at 15, 17, 18, 19, and 21 days of incubation and from chicks at 1 and 3 days after hatching. Paraffin sections prepared from tissue samples were stained with periodic acid-Schiff followed by alcian blue for histological analysis and to detect goblet cells.

Association of trajectories of physical frailty status and incident disability in community-dwelling older adults: A longitudinal study.

Aim: Frailty is a mediator between robustness and functional disability. This study examined the association between remission of frailty and incident disability.

Methods: The present study analyzed longitudinal data from 2601 community-dwelling older adults who were aged ≥65 years (mean age 70.

Spontaneous resumption of severe infranodal conduction disturbances that followed COVID-19 vaccination.

We report reversible severe infranodal conduction disturbances that followed COVID-19 vaccination in a young woman. Right and left bundle branch conduction were impaired and recovered at different times, resulting in reversible paroxysmal complete atrioventricular block.

Adrenomedullin 2/Intermedin Exerts Cardioprotective Effects by Regulating Cardiomyocyte Mitochondrial Function.

Background: Adrenomedullin 2 (AM2) plays critical roles in regulating blood pressure and fluid balance. However, the specific involvement of AM2 in cardiac hypertrophy has not been comprehensively elucidated, warranting further investigation into its molecular mechanisms and therapeutic implications.

Methods: Cardiac hypertrophy was induced in adult mice lacking AM2 (AM2-/-) using transverse aortic constriction surgery.

[Neuroendocrine carcinoma of the extrahepatic bile duct:a case report].

A 78-year-old male patient came to our hospital with a chief complaint of fever. Computed tomography revealed an indistinct tumor in the pancreatic head, along with dilatation of the bile duct and main pancreatic duct. An endoscopic transpapillary biopsy demonstrated adenocarcinoma in the glandular epithelium and a dense formation of quasi-round cells.

Coping strategies and changes in type D personality were associated with depressive tendency at 9 months after percutaneous coronary intervention.

Type D personality, characterized by negative affectivity and social inhibition, has been associated with both the psychophysiology of coronary artery disease (CAD) and depressive disorders. However, few reports have described the impact of coping strategies in these patients. This study aimed to analyze the characteristics of type D personality and the coping strategies adopted by patients with CAD and to explore the factors associated with depressive tendencies during follow-up.

Aberrant Methylation of is Associated with the Pathogenesis of Autoimmune Pancreatitis.

IgG4-related disease (IgG4-RD) is an autoimmune disease of unknown cause. is a transcription factor involved in immune responses, and its dysfunction leads to uncontrolled immune responses. We performed, to our knowledge, the first methylation analysis in type 1 autoimmune pancreatitis (denoted simply as AIP), a representative IgG4-RD.

Effectiveness for remission maintenance rate and safety of different rituximab regimens for treating anti-neutrophil cytoplasmic antibody-associated vasculitis in Japan: a J-CANVAS study.

Rituximab (RTX) has been reported to effectively maintain remission in anti-neutrophil cytoplasmic antibody-associated vasculitis (AAV). In this multicenter study involving 57 patients who achieved remission after 24 weeks, we evaluated the effectiveness of RTX in maintaining remission in patients with AAV. Patients were divided into three groups based on RTX administration: continuous, induction phase-only, and maintenance phase-only groups.

Problems of magnetic resonance diagnosis for gastric-type mucin-positive cervical lesions of the uterus and its solutions using artificial intelligence.

Purpose: To reveal problems of magnetic resonance imaging (MRI) for diagnosing gastric-type mucin-positive (GMPLs) and gastric-type mucin-negative (GMNLs) cervical lesions.

Methods: We selected 172 patients suspected to have lobular endocervical glandular hyperplasia; their pelvic MR images were categorised into the training (n = 132) and validation (n = 40) groups. The images of the validation group were read twice by three pairs of six readers to reveal the accuracy, area under the curve (AUC), and intraclass correlation coefficient (ICC).

Osteogenic CpG Oligodeoxynucleotide, iSN40, Inhibits Osteoclastogenesis in a TLR9-Dependent Manner.

A CpG oligodeoxynucleotide (CpG-ODN), iSN40, was originally identified as promoting the mineralization and differentiation of osteoblasts, independent of Toll-like receptor 9 (TLR9). Since CpG ODNs are often recognized by TLR9 and inhibit osteoclastogenesis, this study investigated the TLR9 dependence and anti-osteoclastogenic effect of iSN40 to validate its potential as an osteoporosis drug. The murine monocyte/macrophage cell line RAW264.