Association of Multiple Nonhypertrophic Cardiomyopathy-Related Genetic Variants and Outcomes in Patients With Hypertrophic Cardiomyopathy.

Background: Approximately 10% of hypertrophic cardiomyopathy (HCM) patients have left ventricular systolic dysfunction (end-stage HCM) leading to severe heart-failure; however, risk stratification to identify patients at risk of progressing to end-stage HCM remains insufficient.

Objectives: In this study, the authors sought to elucidate whether the coexistence of other cardiovascular disease (CVD)-related variants is associated with progression to end-stage HCM in patients with HCM harboring pathogenic or likely pathogenic (P/LP) sarcomeric variants.

Methods: The authors performed genetic analysis of 83 CVD-related genes in HCM patients from a Japanese multicenter cohort.

Sexual dimorphism in the tardigrade Paramacrobiotus metropolitanus transcriptome.

Background: In gonochoristic animals, the sex determination pathway induces different morphological and behavioral features that can be observed between sexes, a condition known as sexual dimorphism. While many components of this sex differentiation cascade show high levels of diversity, factors such as the Doublesex-Mab-3-Related Transcription factor (DMRT) are widely conserved across animal taxa. Species of the phylum Tardigrada exhibit remarkable diversity in morphology and behavior between sexes, suggesting a pathway regulating this dimorphism.

MARC-3, a membrane-associated ubiquitin ligase, is required for fast polyspermy block in Caenorhabditis elegans.

In many sexually reproducing organisms, oocytes are fundamentally fertilized with one sperm. In Caenorhabditis elegans, chitin layer formation after fertilization by the EGG complex is one of the mechanisms of polyspermy block, but other mechanisms remain unknown. Here, we demonstrate that MARC-3, a membrane-associated RING-CH-type ubiquitin ligase that localizes to the plasma membrane and cortical puncta in oocytes, is involved in fast polyspermy block.

Symptomatic periesophageal vagal nerve injury by different energy sources during atrial fibrillation ablation.

Background: Symptomatic gastric hypomotility (SGH) is a rare but major complication of atrial fibrillation (AF) ablation, but data on this are scarce.

Objective: We compared the clinical course of SGH occurring with different energy sources.

Methods: This multicenter study retrospectively collected the characteristics and clinical outcomes of patients with SGH after AF ablation.

A New Species of Bisexual (Eutardigrada: Apochela) Having Aberrant Claws from Innhovde, Dronning Maud Land, East Antarctica.

There have been several records in the last 60 years for East Antarctica for Doyère, 1840 sensu lato, now considered a species complex. During the 56th Japanese Antarctic Research Expedition summer operation (2014-2015), a new tardigrade species in the genus Doyère, 1840 was found in an ice-free Innhovde area along Lützow-Holm Bay, Dronning Maud Land, East Antarctica. The new species has aberrant claws with four to seven points on each secondary claw branch, which distinguishes it from other species.

Therapeutic strategies for pseudoaneurysm following blunt liver and spleen injuries: A multicenter cohort study in the pediatric population.

Background: Little guidance exists for the treatment of pseudoaneurysm (PA) following pediatric blunt liver and/or spleen injuries (BLSIs). We aimed to describe the incidence of delayed PA development and the subsequent clinical course of PA in pediatric BLSIs.

Methods: This multicenter retrospective cohort study from Japan included pediatric patients (16 years and younger) who sustained BLSIs from 2008 to 2019.

Description of a model tardigrade Paramacrobiotus metropolitanus sp. nov. (Eutardigrada) from Japan with a summary of its life history, reproduction and genomics.

The genus Paramacrobiotus was erected in 2009 from the genus Macrobiotus, and 43 Paramacrobiotus species have been described to date. Although the first genome sequence in the genus was reported for the TYO strain of Paramacrobiotus sp., which is a dioecious species and has five bivalent chromosomes, its precise taxonomic identification remained undetermined.

A Drifting Dislodged Leadless Pacemaker in the Bilateral Pulmonary Arteries.

We report a rare phenomenon during implantation of a leadless pacemaker. The device was dislodged into the left pulmonary artery (PA) during the implantation procedure and then migrated the next day from the left PA to the right PA. ().

Early Experience of Tafamidis Treatment in Japanese Patients With Wild-Type Transthyretin Cardiac Amyloidosis From the Kochi Amyloidosis Cohort.

Background: Tafamidis has emerged as an effective treatment for patients with wild-type transthyretin cardiac amyloidosis (ATTRwt CA). The early experience of tafamidis treatment for Japanese patients with ATTRwt CA is reported here.

Methods and results: Over the past 2 years, in 82 patients with ATTRwt CA (mean age of 81.

Reproduction of : Comparison of Morphology and Behavior in the Family Macrobiotidae (Tardigrada: Eutardigrada).

The genus was separated from the genus in 2016 and the name referred to its phylogenetic position among the family Macrobiotidae; however, knowledge of the reproductive behavior of this genus is limited compared to those of and . This study comprehensively provides the reproductive traits, including the gamete morphologies and behavioral observations, of . The morphology of its spermatozoon showed a length that was intermediary among those of and species.

What we believed to be a right upper pulmonary vein by transthoracic echocardiography is actually a right lower pulmonary vein.

Background: Current guidelines recommend that pulmonary vein (PV) velocity should be recorded by using the right upper pulmonary vein (RUPV) during transthoracic echocardiography (TTE) evaluation of left ventricular diastolic function. However, it is uncertain whether the PV displayed during TTE is truly measuring the upper PV. This study aimed to identify the actual site of each PV that is usually detected during TTE.

A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal-dominant disorder mainly caused by mutations in sarcomere genes. Recently, a phenotype-based genetic test prediction score for patients with HCM was introduced by Mayo Clinic. The genotype score was derived on the basis of the predictive effect of 6 clinical markers, and the total score was shown to be correlated with the yield of genetic testing.

Intracranial bruits in meningitis.

Intracranial bruits (ICB) are faint, high-pitched, and mostly heard on the orbit in the systolic phase of the cardiovascular cycle. This report discusses a case of Listeria monocytogenes meningitis in a 17-month-old male patient in whom ICB were auscultated. ICB is thought to be caused by compression of blood vessels due to increased intracranial pressure and may serve as an additional sign supporting the diagnosis of meningitis.

Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I.

Background: Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. Cardiac manifestations such as valvular heart disease are associated with poor prognosis. There have been only a few reports on the effect of long-term enzyme replacement therapy (ERT) for adult patients with the attenuated form of MPS I (Scheie syndrome) and cardiac involvement.

Distribution of Macrobiotus shonaicus Stec, Arakawa amp; Michalczyk, 2018 (Tardigrada: Eutardigrada: Macrobiotidae) in Japan.

To date, only seven species of Macrobiotidae (Parachela; Eutardigrada; Tardigrada) have been reported from Japan, including the recently described Macrobiotus shonaicus Stec et al., 2018 from the Shonai region of Japan. This species has flexible filaments on the egg processes and is known to proliferate only through sexual reproduction.