Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.

Background: Sarcoglycanopathies (SGPs) are limb-girdle muscular dystrophies (LGMDs) that can be classified into four types, LGMDR3, LGMDR4, LGMDR5, and LGMDR6, caused by mutations in the genes, SGCA, SGCB, SGCG, and SGCD, respectively. SGPs are relatively rare in Japan. This study aims to profile the genetic variants that cause SGPs in Japanese patients.

Validity and reliability of the Simple Motor Competence-check for Kids (SMC-Kids).

Objectives: To examine the validity and reliability of the Simple Motor Competence-check for Kids (SMC-Kids), which was developed to assess motor development in preschool children.

Design: A cross-sectional and repeated-measures design.

Methods: To assess validity, 71 children aged 4-6 years completed the Test of Gross Motor Development-3 (TGMD-3) and SMC-Kids (10 m shuttle run and paper ball throw).

Combined molecular subclass and immune phenotype correlate to atezolizumab plus radiation therapy response in invasive bladder cancer: BPT-ART Phase II study.

Purpose: Bladder preservation therapy in combination with atezolizumab and radiation therapy (BPT-ART) trial, which was a multicenter, open-label, single-arm phase II study, showed a promisingly high interim clinical complete response (cCR) rate of 84.4% (38/45). In the present study, we aimed to identify potential tissue biomarkers for achieving cCR via BPT-ART.

Real-Time Subcutaneous Arterial Navigation for Thinning of an Anterolateral Thigh Flap Using Photoacoustic Imaging and Projection Mapping: A Case Report.

Thinning of anterolateral thigh flap is challenging. Anatomical studies have shown variations in arterial branching patterns in the subcutaneous layer, which were suspected to be the reason for the high frequency of thinning failures. We attempted to visualize subcutaneous arterial courses preoperatively and perform thinning of perforator flaps using this information appropriately.

Initiation of Psychotropic Drugs in Spouses of Patients With Early-Onset Alzheimer's Disease: A Matched Cohort Study.

Objectives: The diagnosis of early-onset Alzheimer's disease (EOAD) can cause emotional stress not only to the patients themselves but also to their spouses. This study aimed to evaluate the risk of psychiatric disorders in spouses of EOAD patients, using psychotropic drug initiation as a surrogate indicator.

Methods: A cohort study was conducted using a Japanese claims database, with spouses of EOAD patients (exposed spouses) matched with spouses of non-EOAD individuals (reference spouses) up to a 1:10 ratio.

A modeling study to define guidelines for antigen screening in schools and workplaces to mitigate COVID-19 outbreaks.

Background: In-person interaction offers invaluable benefits to people. To guarantee safe in-person activities during a COVID-19 outbreak, effective identification of infectious individuals is essential. In this study, we aim to analyze the impact of screening with antigen tests in schools and workplaces on identifying COVID-19 infections.

Blood DNA virome associates with autoimmune diseases and COVID-19.

Aberrant immune responses to viral pathogens contribute to pathogenesis, but our understanding of pathological immune responses caused by viruses within the human virome, especially at a population scale, remains limited. We analyzed whole-genome sequencing datasets of 6,321 Japanese individuals, including patients with autoimmune diseases (psoriasis vulgaris, rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), pulmonary alveolar proteinosis (PAP) or multiple sclerosis) and coronavirus disease 2019 (COVID-19), or healthy controls. We systematically quantified two constituents of the blood DNA virome, endogenous HHV-6 (eHHV-6) and anellovirus.

Impact of diaphragm motion on dosimetry in lower thoracic spine stereotactic body radiotherapy.

Background And Purpose: Free-breathing computed tomography (FBCT) used in treatment planning for lower thoracic (Th8-Th12) spine stereotactic body radiotherapy (SBRT) can cause deviations between planned and irradiated doses due to diaphragm movement (DM). This study analyzed the dosimetric impact of DM on lower thoracic spine SBRT.

Materials And Methods: Data were collected from 19 patients who underwent FBCT and four-dimensional CT (4DCT) during the same session.

Nursing Practices for Preventing Delirium in Patients with Cancer with Prognoses of Months and Weeks: A Multi-Site Cross-Sectional Study in Japan.

Background: Delirium is a condition characterized by an acute and transient disturbance in attention, cognition, and consciousness. It is increasingly prevalent at the end of life in patients with cancer. While non-pharmacological nursing interventions are essential for delirium prevention, their effectiveness in terminally ill patients with cancer remains unclear.

Impact of breast size and composition on the accuracy of mammography and ultrasonography in breast cancer screening.

Background: The accuracy of mammography in breast cancer screening is influenced by different factors such as breast composition. However, previous studies did not evaluate the impact of breast size on examination accuracy. This study aimed to investigate the influence of breast size on the accuracy of mammography and ultrasonography in breast cancer screening using compressed breast thickness (CBT) on mammography as an indicator of breast size.

Adrenomedullin in pulmonary hypertension.

Adrenomedullin (AM) exerts strong pulmonary vasodilatory effects. These effects are mediated in part by nitric oxide. Plasma AM levels are increased in patients with pulmonary hypertension and correlate with disease severity and poor outcomes.

Association Between Kyphosis and Sleep Disturbance in Community-Dwelling Older Adults: The Locomotive Syndrome and Health Outcome in Aizu Cohort Study.

Purpose: Worsening sagittal alignment of the spine, particularly kyphosis, may cause difficulty in assuming a supine position, restricting sleeping posture and movement and potentially leading to sleep disturbances. However, no studies have explored the relationship between sagittal spinal alignment and sleep disturbance. This study aimed to clarify the relationship between sagittal spinal alignment and sleep disturbance.

Sciatic Nerve Preservation in Robot-Assisted Surgery for Initially Unresectable Primary Rectal Cancer: A Case Report.

Radical surgery for rectal cancer with bulky lateral pelvic lymph node (LPLN) metastasis involving the sciatic nerve presents both technical and oncological challenges. Preoperative multidisciplinary treatments have recently been anticipated to control the disease as well as to preserve organ function. A 51-year-old man, presenting with right buttock pain and impairment of walking, was diagnosed with sciatic nerve impairment due to right LPLN metastasis from rectal cancer.

Integrative analysis of ATAC-seq and RNA-seq for cells infected by human T-cell leukemia virus type 1.

Human T-cell leukemia virus type 1 (HTLV-1) causes adult T-cell leukemia (ATL) and HTLV-1-associated myelopathy (HAM) after a long latent period in a fraction of infected individuals. These HTLV-1-infected cells typically have phenotypes similar to that of CD4+T cells, but the cell status is not well understood. To extract the inherent information of HTLV-1-infected CD4+ cells, we integratively analyzed the ATAC-seq and RNA-seq data of the infected cells.

Cadherin 23 is a prognostic marker of pancreatic cancer and promotes cell viability in floating culture conditions.

: Pancreatic cancer has the worst prognosis of all common cancers worldwide. Cadherin plays important roles in cancer cell invasion and metastasis. This study investigated the role and mechanism of Cadherin 23 (CDH23) action in the viability of pancreatic cancer cells.

Blood glucose levels in out-of-hospital cardiac arrest undergoing targeted temperature management and ECPR.

Aim: Targeted temperature management (TTM) for patients undergoing extracorporeal cardiopulmonary resuscitation (ECPR) has not been fully studied. This study aimed to investigate the association between blood glucose levels during TTM and neurological outcomes in out-of-hospital cardiac arrest (OHCA) patients undergoing ECPR.

Methods: This was a secondary analysis of the SAVE-J II study, a retrospective, multicenter study of OHCA patients treated with ECPR in Japan.

Fundamental study on improving the quality of X-ray fluorescence computed tomography images by applying deep image prior to projection images as a pre-denoising method.

Purpose: We are developing a three-dimensional X-ray fluorescence computed tomography (3D XFCT) system using non-radioactive-labeled compounds for preclinical studies as a new modality that provides images of biological functions. Improvements in image quality and detection limits are required for the in vivo imaging. The aim of this study was to improve the quality of XFCT images by applying a deep image prior (DIP), which is a type of convolutional neural network, to projection images as a pre-denoising method, and then compare with DIP post-denoising.

Age- and sex-related changes in the position of the mental foramina and age estimation methods that use these changes.

The position of the mental foramen is reported to change with age. This study aimed to examine age-related changes in the position of the mental foramen in men and women. Among 200 cases (age 21-100 years; 400 foramina) that underwent postmortem computed tomography, 109 (age 21-93 years; 218 foramina) with mandibular first and second premolars were examined using image analysis software to classify the position of the mental foramen according to Fishel's classification, and the χ² test was performed.

Downregulation of semaphorin 4A in keratinocytes reflects the features of non-lesional psoriasis.

Psoriasis is a multifactorial disorder mediated by IL-17-producing T cells, involving immune cells and skin-constituting cells. Semaphorin 4A (Sema4A), an immune semaphorin, is known to take part in T helper type 1/17 differentiation and activation. However, Sema4A is also crucial for maintaining peripheral tissue homeostasis and its involvement in skin remains unknown.

Tooth loss-associated neuroplasticity of mastication-related motor cortical neurons.

Objectives: The cerebral cortex contains neurons that play a pivotal role in controlling rhythmic masticatory jaw movements. However, the population characteristics of individual cortical neuronal activity during mastication and the impact of tooth loss on these characteristics remain unclear. Thus, in this study, we aimed to determine the activity patterns of mastication-related motor cortical neurons elicited during mastication and examine the effects of tooth extraction on neuronal activity using two-photon Ca imaging in head-restrained awake mice.

Treatment of Unruptured Large and Giant Carotid Cavernous Aneurysms in Japan at the Time of Flow Diverter Introduction: A Nationwide, Multicenter Survey by the Japanese Society on Surgery for Cerebral Stroke.

Background: Flow diverters (FDs) have been introduced for the management of large or giant cavernous carotid aneurysms (CCAs) in addition to conventional modalities, dramatically changing treatment strategies. The aim of this study was to examine the management of unruptured large/giant CCAs in Japan when FDs were being introduced using a nationwide survey.

Methods: 540 unruptured large/giant CCAs treated at neurosurgical teaching departments in Japan between 2012 and 2016 were retrospectively studied.