Diverse microbiome functions, limited temporal variation and substantial genomic conservation within sedimentary and granite rock deep underground research laboratories.

Background: Underground research laboratories (URLs) provide a window on the deep biosphere and enable investigation of potential microbial impacts on nuclear waste, CO and H stored in the subsurface. We carried out the first multi-year study of groundwater microbiomes sampled from defined intervals between 140 and 400 m below the surface of the Horonobe and Mizunami URLs, Japan.

Results: We reconstructed draft genomes for > 90% of all organisms detected over a four year period.

Impact of Nutritional Status and Cardiopulmonary Exercise Testing-Based Exercise Education on Long-Term Outcomes in Acute Coronary Syndrome - Insights From the Mie ACS Registry.

Background: Exercise training based on cardiopulmonary exercise testing (CPET) improves outcomes in patients with acute coronary syndrome (ACS), while nutritional status is also crucial. This study evaluated CPET implementation and the impacts of clinical parameters, including CPET and nutritional status, on 2-year outcomes in ACS patients.

Methods And Results: Data from 2,621 ACS patients enrolled in the Mie ACS registry were analyzed.

Role of micropores within minerals in retardation of mass transfer by matrix diffusion and sorption in granitic rock.

Understanding the mass transfer characteristics of matrix diffusion and sorption is important in the safety assessment of geological disposal of high-level radioactive waste in crystalline rock (granite) by contributing to radionuclide retardation through mass transfer within the rock body. We present a comparative discussion of the effective diffusion coefficient (), porosity, and petrological data for rock samples collected from the Toki Granite in central Japan, to evaluate the role of micropores within minerals in retardation by matrix diffusion and sorption in granitic rocks. was derived from the through-diffusion experiments using uranine, barium, strontium, and chloride ions as tracers.

A newly developed surgeon-controlled suction device in robotic-assisted thoracoscopic surgery.

Introduction: Assistant surgeons usually clean the surgical field with a suction cannula in robotic-assisted surgery. This manipulation requires skill and experience to avoid interfering with the operation of the console surgeon. Recently, we created a new suction device that a console surgeon can manipulate with the robotic arms.

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1.

Zic family member 1 (ZIC1), a gene located on chromosome 3q24, encodes a transcription factor with zinc finger domains that is essential for the normal development of the cerebellum. Heterozygous loss-of-function of ZIC1 causes Dandy-Walker malformation, while heterozygous gain-of-function leads to a multiple congenital anomaly syndrome characterized by craniosynostosis, brain abnormalities, facial features, and learning disability. In this study, we present the results of genetic analysis of a male patient with clinically suspected Gomez-Lopez-Hernandez syndrome.

Development of a Manufacturing Process toward the Convergent Synthesis of the COVID-19 Antiviral Ensitrelvir.

We describe the development of the practical manufacturing of Ensitrelvir, which was discovered as a SARS-CoV-2 antiviral candidate. Scalable synthetic methods of indazole, 1,2,4-triazole and 1,3,5-triazinone structures were established, and convergent couplings of these fragments enabled the development of a concise and efficient scale-up process to Ensitrelvir. In this process, introducing a -cresolyl moiety successfully enhanced the stability of intermediates.

[Giant Mature Cystic Teratoma Causing Loss of Consciousness before Surgery].

A 30-year-old woman who presented loss of consciousness was diagnosed as having large anterior mediastinal tumor. Computed tomography (CT) showed a 17.0×13.

Different Types of Myocardial Injury due to the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) Omicron Variant.

Coronavirus disease 2019 (COVID-19) associated myocardial injury was caused by various mechanisms. We herein describe 2 cases presenting different types of myocardial injury due to Omicron variant. In both patients, diffuse reduced left ventricular (LV) wall motion in transthoracic echocardiography, electrocardiographic abnormality, and elevated myocardial enzymes were demonstrated.

Complex congenital cardiovascular anomaly in a patient with AGO1-associated disorder.

Pathogenic AGO1 variants have been associated with neurodevelopmental disorders, including autism spectrum disorder, developmental delay, intellectual disability, and dysmorphic facial appearance. In mammalian models, defects in microRNA (miRNA) biogenesis are associated with congenital heart disease and dilated cardiomyopathy. We describe the case of a patient with partial anomalous pulmonary venous return, hypoplastic left lung, bilateral pulmonary sequestration, and dilated myocardiopathy.

A Case of -related Syndrome With Prolonged QTc Treated With a Subcutaneous Implantable Cardioverter Defibrillator After Ventricular Fibrillation.

NAA10 is an enzyme involved in the N-terminal acetylation of proteins. -related syndrome is caused by a pathogenic variant of on X chromosome, resulting in several phenotypes, including mental retardation, hypotonia, growth retardation, and various external malformations, with varying degrees of severity. With regard to cardiac diseases, hypertrophic cardiomyopathy is a possible complication.

Analysis of the Persistence and Particle Size Distributional Shift of Sperm-Derived Environmental DNA to Monitor Jack Mackerel Spawning Activity.

Environmental DNA (eDNA) analysis holds great promise as an efficient and noninvasive method to monitor not only the distribution of organisms but also their spawning activity. In eDNA analysis-based monitoring of spawning activity, the detection of sperm-derived eDNA is a key point; however, its characteristics and dynamics are completely unknown. The present study focuses on the persistence and particle size distribution (PSD) of eDNA derived from the sperm of Japanese jack mackerel.

Delineation of a Phenotype Caused by a Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GPS) are caused by variants of lysine acetyltransferase 6B (). These variants tend to occur in the terminal exons of . Here, we report a patient with global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, facial dysmorphism, and seizures caused by a novel missense variant in exon 7 of .

Rothmund-Thomson syndrome investigated by two nationwide surveys in Japan.

Background: Rothmund-Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma of the face, small stature, sparse scalp hair, juvenile cataract, radial aplasia, and predisposition to cancers. Due to the rarity of RTS, the situation of patients with RTS in Japan has not been elucidated.

Methods: In 2010 and 2020, following the results of a primary questionnaire survey, a secondary questionnaire survey on RTS was conducted nationwide to investigate the number of RTS cases and their associated skin lesions, bone lesions, other clinical features, and quality of life in Japan.

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Rubinstein-Taybi syndrome (RSTS) is characterized by dysmorphic facial features, broad thumbs, and intellectual disability. CREB-binding protein (CREBBP) or E1A-binding protein P300 (EP300) are causative genes. To elucidate the underlying genetic and genomic architecture related to the RSTS phenotype, we performed comprehensive genetic analysis targeting CREBBP and/or EP300 in 22 clinically diagnosed patients.

A solitary pulmonary nodule caused by Mycobacterium avium with pleural effusion and pleuritis after transbronchial biopsy: a case report.

Background: Pleural effusion and pleuritis are uncommon manifestations of Mycobacterium avium complex pulmonary disease. Pleuritis caused by Mycobacterium avium complex pulmonary disease presenting as a solitary pulmonary nodule is extremely rare. The pathogenesis of Mycobacterium avium complex pleuritis has not been elucidated.

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.

Intellectual disability (ID) is a developmental disorder that includes both intellectual and adaptive functioning deficits in conceptual, social, and practical domains. Although evidence-based interventions for patients have long been desired, their progress has been hindered due to various determinants. One of these determinants is the complexity of the origins of ID.

Functional Predictors for Home Discharge after Hip Fracture in Patients Living in Sloped Neighborhoods or Islands: An 8-Year Retrospective Cohort Study.

Functional predictors of home discharge after hip fractures have been widely reported; however, no study has considered the geographical features surrounding patients' homes. This study aimed to identify home discharge predictors and determine the cutoff points required for home discharge of patients living in sloped neighborhoods or islands. A total of 437 postoperative hip fracture patients were included and classified into the flat, slope, and island groups according to their residential area before the fracture.

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel variant.

Variants of , which encodes GluN1, are associated with developmental delay, epilepsy, and cortical malformation. Here, we report a case of arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a heterozygous variant, c.1949A>C, p.

Serial cardiac magnetic resonance imaging in wet beriberi.

A 69-year-old woman with previous pancreaticoduodenectomy was admitted for evaluation of chest discomfort on effort and leg edema for a few months. Oral flosemide before admission for 1 week failed to relieve her symptoms. Her blood pressure was 105/51 mmHg and heart rate was 76 beats/min.

Factors affecting impingement and dislocation after total hip arthroplasty - Computer simulation analysis.

Background: Studies on the causes and factors affecting dislocation after total hip arthroplasty have revealed conflicting results. The purpose of this study was to evaluate the factors affecting impingement and dislocation after total hip arthroplasty, using a 3-dimensional dynamic motion analysis.

Methods: The CT data of 53 patients (53 hips: anterior dislocation; 11 cases, and posterior dislocation; 42 cases) who experienced hip dislocation after total hip arthroplasty with posterior approach, and 120 control patients (120 hips) without dislocation were analyzed.