Suzuki Stage VI Unilateral Moyamoya Disease Presenting With Massive Intraventricular Hemorrhage.

Moyamoya disease (MMD) is characterized by stenosis of the terminal portion of the internal carotid artery (ICA) and the development of collateral vessels. In late Suzuki stage MMD, ICA almost disappears, and the moyamoya vessels gradually regress. We report a case of late Suzuki stage unilateral MMD presenting with intraventricular hemorrhage.

RNF213 p.Arg4810Lys Wild Type is Associated with De Novo Hemorrhage in Asymptomatic Hemispheres with Moyamoya Disease.

Clinical implications of RNF213 genetic variants, other than p.Arg4810Lys, in moyamoya disease (MMD), remain unclear. This study aimed to investigate the association of RNF213 variants with clinical phenotypes in MMD.

Revisiting the Term "Compassionate Use" and Leadership of the World Health Organization in Resolving Confusion in the Age of COVID-19 and Beyond.

We discuss the term "compassionate use" (CU) as an example of terminology having a huge impact on drug regulation. CU is used in many confusing situations, and its meaning varies significantly. We ethically affirm the necessity of CU.

Genome-Wide Association Study of Intracranial Artery Stenosis Followed by Phenome-Wide Association Study.

The genetic background of intracranial artery stenosis (ICAS), a major cause of ischemic stroke, remains elusive. We performed the world's first genome-wide association study (GWAS) of ICAS using DNA samples from Japanese subjects, to identify the genetic factors associated with ICAS and their correlation with clinical features. We also conducted a phenome-wide association study (PheWAS) of the top variant identified via GWAS to determine its association with systemic disease.

Germline Mutations for Kidney Volume in ADPKD.

Introduction: Valid prediction models or predictors of disease progression in children and young patients with autosomal dominant polycystic kidney disease (ADPKD) are lacking. Although total kidney volume (TKV) and Mayo imaging classification are generally used to predict disease progression in patients with ADPKD, it remains unclear whether germline mutation types are associated with these factors. We therefore investigated the association between mutation type and TKV and Mayo imaging classification among patients with ADPKD.

Initial evaluation of a novel electrocardiography sensor-embedded fabric wear during a full marathon.

Sudden cardiac accident (SCA) during a marathon is a concern due to the popularity of the sport. Preventive strategies, such as cardiac screening and deployment of automated external defibrillators have controversial cost-effectiveness. We investigated the feasibility of use of a new electrocardiography (ECG) sensor-embedded fabric wear (SFW) during a marathon as a novel preventive strategy against SCA.

Changes in the Risk of Stroke in Dialysis Patients: A Retrospective Analysis over the Last 40 Years.

The stroke incidence in hemodialysis (HD) patients is high, but the associated factors remain largely unknown. This study aimed to analyze stroke incidence in HD patients and changes in risk factors. Data of 291 patients were retrospectively analyzed.

Hemorrhagic Onset Intracranial Artery Dissection of Middle Cerebral Artery Followed by Progressive Arterial Stenosis with Genetic Variant RNF213 p.Arg4810Lys (rs112735431).

Background: Intracranial arterial dissection (IAD) is known to exhibit various patterns of arterial imaging features such as stenosis and dilation; however, the genetic background of IAD has not been elucidated so far. RNF213 was recently identified as a susceptibility gene for moyamoya disease (MMD) and intracranial artery stenosis (ICAS). More recently, RNF213 p.

Risk Factors and Outcomes of Cerebral Stroke in End-Stage Renal Disease Patients Receiving Hemodialysis.

Objective: Dialysis patients have a higher incidence of stroke, and outcomes are often poor. Diabetic nephropathy (DN) is a stroke risk-factor, but the importance is unclear in dialysis patients. This study investigated the stroke features and risk factors in hemodialysis (HD) patients.

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Autosomal dominant polycystic kidney disease (ADPKD) patients with PKD1 mutations, particularly those with truncating mutations, show poor prognosis. However, the differences in disease progression with different mutation types are unclear. Here, a comparative study was conducted on the renal prognosis of patients with ADPKD who were categorized based on genotype (PKD1 versus PKD2 mutation), mutation type (truncating mutation: nonsense, frameshift, splicing mutation, and large deletion; non-truncating mutation: substitution and in-frame deletion), and mutation position.

A Bezoar Composed of Bilirubin Calcium, Calcium Carbonate, and Fatty Acid Calcium.

A 68-year-old Japanese man was diagnosed with bezoar in the stomach, which was endoscopically retrieved. The bezoar was composed of bilirubin calcium, calcium carbonate, and fatty acid calcium. Due to the presence of bilirubin calcium in the bezoar, we performed imaging studies of the bile duct; gallstones and common bile duct stones were identified.

Mutation analyses by next-generation sequencing and multiplex ligation-dependent probe amplification in Japanese autosomal dominant polycystic kidney disease patients.

Background: Autosomal dominant polycystic kidney disease (ADPKD), one of the most common hereditary kidney diseases, causes gradual growth of cysts in the kidneys, leading to renal failure. Owing to the advanced technology of next-generation sequencing (NGS), genetic analyses of the causative genes PKD1 and PKD2 have been improved.

Methods: We performed genetic analyses of 111 Japanese ADPKD patients using hybridization-based NGS and long-range (LR)-PCR-based NGS.

A case of conservative management for left ventricular giant pseudoaneurysm without ST segment changes.

Left ventricular (LV) rupture after myocardial infarction (MI) occasionally results in formation of LV pseudoaneurysm (LVPA) which is prone to rupture because of its thin wall. However, cases of LVPA without ST changes including segment elevation in electrocardiogram (ECG) are rare. In this case, we describe a patient who had relatively mild symptoms and giant LVPA with no specific ECG changes following MI with a confirmed diagnosis via transthoracic echocardiography.

Fibroblast growth factor 23 is upregulated in the kidney in a chronic kidney disease rat model.

The hormone fibroblast growth factor 23 (FGF23) is secreted from bone and is involved in phosphorus (P) metabolism. FGF23 mainly binds the FGF receptor, which interacts with αKlotho in the kidney or parathyroid and regulates Na-dependent phosphate co-transporter type IIa (NaPi-IIa) and type IIc (NaPi-IIc) expression, 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) activity, and parathyroid hormone (PTH) secretion. In this study, we utilized hemi-nephrectomized rats fed a high-P diet (HP Nx), rats subjected to a partial nephrectomy (PN) and rats with doxorubicin-induced renal failure (DXR) as chronic kidney disease (CKD) animal models and analyzed the P metabolism and FGF23 expression in the kidneys in each CKD model.

Genetic Analysis of Ring Finger Protein 213 (RNF213) c.14576G>A in Intracranial Atherosclerosis of the Anterior and Posterior Circulations.

Background: Intracranial atherosclerosis of the anterior circulation (anterior ICAS) and intracranial atherosclerosis of the posterior circulation (posterior ICAS) are thought to involve different pathogeneses and risk factors. Recently, we identified a genetic variant that has a significant association with ICAS. The variant was ring finger protein 213 (RNF213) c.

Association Between Long-term Alcohol Consumption and Undercarboxylated Osteocalcin.

The Japanese Ministry of Health, Labour and Welfare has focused on enhancing knowldge about the association between alcohol consumption and health, such as early detection of alcohol abuse, the appropriate actions to be taken after detection, and prevention of teenage drinking. They believe that it is necessary to develop and improve the methods for early detection of alcohol-related problems in an easy and effective way. Given this context, we hypothsized that simultaneous determination of osteocalcin (OC) and undercarboxylated osteocalcin ucOC), bone metabolic markers, would facilitate research on the effects of alcohol drinking.

Is the evidence of the Supreme Court Ruling of gefitinib litigation in Japan scientific?

Background: Plaintiffs of the gefitinib (Iressa) lawsuits in Japan started in 2004 were defeated in the Supreme Court in 2013. The Court judged it was not possible to foresee the outbreak of deaths caused by interstitial pneumonia due to gefitinib from death cases before approval of this drug.

Objective: We attempted to verify validity of this judgment.

Preparation and affinity-based purification of caged linear DNA for light-controlled gene expression in mammalian cells.

A facile and useful method for preparing caged DNAs was developed. The method includes a caging reaction of a linear dsDNA having a minimal sequence of protein expression with Bio-Bhc-diazo and affinity separation of the caged DNA. Effective suppression and photo-mediated restoration of protein expression were demonstrated.

[A fundamental proposal to establish an investigative system for medical accidents].

For more than a decade, numerous disputes over medical errors and other safety issues in the healthcare system have occurred and attracted growing interest from society. As a result, through the Model Project for the Investigation of Death Associated with Medical Practice, the Outline Proposal of the Measure to Establish an Investigative Commission on Medical Accidents was proposed by the Japanese Ministry of Health, Labour and Welfare. However, this measure was not finalized.

Design, synthesis, and photochemistry of modular caging groups for photoreleasable nucleotides.

A modular approach to preparing caged nucleotides having additional properties has been achieved. The modular caging agent includes three components: an amine reactive NHS ester moiety, a photoactive Bhc group, and tosylhydrazone as a precursor of the diazomethyl group. Various amines including biotin and an Arg-Gly-Asp (RGD) peptide were introduced into the key intermediate via amide linkage.

Symptomatic recurrence of intracranial arterial dissections: follow-up study of 143 consecutive cases and pathological investigation.

Background And Purpose: The frequency and pattern of symptomatic recurrence of spontaneous intracranial arterial dissection (IAD) are unknown.

Methods: A follow-up study of 143 patients (85 men, 58 women; mean age, 50.7 [7-83] years) with spontaneous IADs at The University of Tokyo and affiliated hospitals from 1980 to 2000 was conducted.