Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.

Although mutations in dozens of genes have been implicated in familial forms of amyotrophic lateral sclerosis (fALS) and frontotemporal degeneration (fFTD), most cases of these conditions are sporadic (sALS and sFTD), with no family history, and their etiology remains obscure. We tested the hypothesis that somatic mosaic mutations, present in some but not all cells, might contribute in these cases, by performing ultra-deep, targeted sequencing of 88 genes associated with neurodegenerative diseases in postmortem brain and spinal cord samples from 404 individuals with sALS or sFTD and 144 controls. Known pathogenic germline mutations were found in 20.

Pattern recognition of forced oscillation technique measurement results using deep learning can identify asthmatic patients more accurately than setting reference ranges.

No official clinical reference values have been established for MostGraph, which measures total respiratory resistance and reactance using the forced oscillation technique, complicating result interpretation. This study aimed to establish a reference range for MostGraph measurements and examine its usefulness in discriminating participants with asthma from controls (participants without any respiratory diseases). The study also aimed to investigate the effectiveness of deep learning in discriminating between the two aforementioned groups.

Clinicopathological Characteristics and Prognosis of Triple-Negative Apocrine Carcinoma: A Case-Control Study.

Background: With a prevalence of only 1% among all breast cancers in Japan, apocrine carcinoma (AC) is a rare type of breast cancer, and its clinicopathological characteristics remain unclear. The aim of this study was to evaluate the characteristics and prognosis of AC, in relation to the presence or absence of androgen receptor (AR).

Methods: We conducted a retrospective multi-center case-control study (Yokohama Clinical Oncology Group (YCOG): YCOG1701 study) in Japan.

COVID-19 severity is associated with the risk of gastrointestinal bleeding.

Objective: The association between the severity of COVID-19 and gastrointestinal (GI) bleeding is unknown. This study aimed to determine whether the severity of COVID-19 is a risk factor for GI bleeding.

Design: A multicentre, retrospective cohort study was conducted on hospitalised patients with COVID-19 between January 2020 and December 2021.

Psychometric Properties of the Japanese Version of the Edmonton Functional Assessment Tool 2.

Context: Physical symptoms such as pain and cancer-related fatigue limit physical function and activities of daily living among patients with terminal cancer, which can lead to a decline in quality of life. Therefore, comprehensive functional impairments should be evaluated to determine the progression of the disease and the effectiveness of palliative treatment.

Objective: To validate the psychometric properties of the Japanese version of the Edmonton Functional Assessment Tool 2 (EFAT2-J).

A case of carotid-axillary bypass for subclavian steal syndrome in an 83-year-old female undergoing hemodialysis.

Introduction: Patients undergoing hemodialysis exhibit a high incidence of subclavian steal syndrome. Many cases of endovascular treatment for subclavian artery stenosis were only reported recently; however, the long-term results of surgical treatment are also important. Herein, we report a case of subclavian steal syndrome treated with common carotid-axillary bypass surgery in a patient undergoing hemodialysis.

Basilar Artery Occlusion Caused by Extracranial Vertebral Artery Dissection on Its Entry into the Transverse Foramen of the C6 Vertebra: Case Report.

Objective: Basilar artery occlusion (BAO) is an infrequent form of acute life-threatening stroke and may occur secondary to vertebral artery dissection (VAD). VAD, which occurs spontaneously and sometimes results from mechanical stress or blunt force trauma to the neck, sometimes occurs in the V1-V2 junction, but there are not many reported cases of those. Herein, we report a pictorially illustrative and clinically informative case of VAD in the V1-V2 junction following BAO.

New-onset minimal change disease following the Moderna COVID-19 vaccine.

We report the case of nephrotic syndrome after COVID-19 vaccination. The patient was a man in his 30s with no comorbidities other than atopic dermatitis. Over the course of 2 weeks after the first COVID-19 vaccination, systemic oedema gradually appeared.

Preoperative Rehearsal Sketch for Cerebral Aneurysm Clipping Improves the Accuracy and the Safety of the Surgical Procedure.

Objective: With advances in endovascular therapy, the number of cerebral aneurysm clippings has been decreasing. However, some patients are indicated for clipping surgeries. In such circumstances, preoperative simulation is important for the safety and educational aspects of the operation.

Prescription patterns of analgesics in cancer patients with bone metastases in Japan: a retrospective database study.

Background: Real-world data on optimal cancer pain management remain scarce. We describe prescription patterns of analgesics in Japanese cancer patients with bone metastases.

Methods: National hospital-based claims data were analyzed.

Extensive epidural pneumatosis and pneumomediastinum combined with diabetic ketoacidosis.

Key Clinical Message: Epidural pneumatosis and pneumomediastinum are rare, benign complications of diabetic ketoacidosis. As they can mimic serious conditions including esophageal rupture, diagnostic evaluation, and attentive monitoring are crucial.

Abstract: Diabetic ketoacidosis can rarely present with epidural pneumatosis and pneumomediastinum, possibly due to forceful vomiting and Kussmaul breathing.

Clinicoradiological course of abemaciclib-induced pneumonitis with histology findings.

A woman in her late 40s presented with multiple abnormal shadows on high-resolution CT (HRCT), was treated with abemaciclib for recurrent right breast cancer post-surgery and chemoradiation therapy. During the 10-month chemotherapy, HRCT revealed a recurrent pattern of a partly appearing and disappearing organising pneumonia pattern without clinical symptoms. Bronchoalveolar lavage analysis revealed lymphocytosis, while transbronchial lung biopsy revealed alveolitis with epithelial cell injury.

A novel catheter ablation strategy for non-paroxysmal atrial fibrillation combining cryoballoon, radiofrequency, and Marshall-vein ethanol ablations.

Backgrounds: Catheter ablation for non-paroxysmal atrial fibrillation (non-PAF) remains challenging and more effective strategy has been required to reduce postoperative arrhythmia recurrences. This study aims to investigate the efficacy and safety of a novel extensive ablation strategy for non-PAF, that is based on a combination of cryoballoon (CBA), radiofrequency (RFA), and Marshall-vein ethanol ablations (EA-VOM).

Methods: The study was a single-center, retrospective observational study.

Exploring Factors Affecting the Occurrence of Hypersensitivity Reactions Induced by Nonionic Iodine Contrast Media.

Hypersensitivity reactions induced by nonionic iodine contrast media sometimes occur and can be life threatening. However, independent factors affecting their occurrence remain to be fully established. Therefore, the purpose of this study was to clarify independent factors affecting the occurrence of hypersensitivity reactions induced by nonionic iodine contrast media.

Executive summary: Japanese guidelines for adult asthma (JGL) 2021.

Asthma is characterized by chronic airway inflammation, variable airway narrowing, and sensory nerve irritation, which manifest as wheezing, dyspnea, chest tightness, and cough. Longstanding asthma may result in airway remodeling and become intractable. Despite the increased prevalence of asthma in adults, asthma-associated deaths have decreased in Japan (0.

Prostate Cancer Associated with Minimal Change Disease: A Case Report.

Introduction: Minimal change disease (MCD), a common cause of primary nephrotic syndrome that accounts for 10%-15% of all primary nephrotic syndrome cases in adults, is frequently associated with malignant lymphoma. However, studies on MCD associated with prostate cancer are scarce.

Case Presentation: A 73-year-old male with prostate cancer was referred to our department with hypoalbuminemia and severe proteinuria while waiting for prostatectomy.