Impaired Relaxation in Induced Pluripotent Stem Cell-Derived Cardiomyocytes with Pathogenic Mutation of Pediatric Restrictive Cardiomyopathy.

Background: Restrictive cardiomyopathy (RCM) is characterized by impaired diastolic function with preserved ventricular contraction. Several pathogenic variants in sarcomere genes, including , are reported to cause Ca hypersensitivity in cardiomyocytes in overexpression models; however, the pathophysiology of induced pluripotent stem cell (iPSC)-derived cardiomyocytes specific to a patient with RCM remains unknown.

Methods And Results: We established an iPSC line from a pediatric patient with RCM and a heterozygous missense variant, c.

Anti-α6β4 integrin autoantibodies inhibit the binding of laminins to α6β4 integrin in patients with pemphigoid and affect the gastrointestinal tract.

Background: Anti-α6β4 integrin autoantibodies can be observed in some patients with mucous membrane pemphigoid. We have previously identified anti-α6β4 integrin extracellular domain autoantibodies together with anti-BP180 NC16A antibodies in a patient with DPP-4 inhibitor-induced bullous pemphigoid. However, the significance and impact of anti-α6β4 integrin antibodies are unknown.

Isogenic pairs of induced-pluripotent stem-derived endothelial cells identify DYRK1A/PPARG/EGR1 pathway is responsible for Down syndrome-associated pulmonary hypertension.

Down syndrome (DS) is the most prevalent chromosomal disorder associated with a higher incidence of pulmonary arterial hypertension (PAH). The dysfunction of vascular endothelial cells (ECs) is known to cause pulmonary arterial remodeling in PAH, although the physiological characteristics of ECs harboring trisomy 21 (T21) are still unknown. In this study, we analyzed the human vascular ECs by utilizing the isogenic pairs of T21-induced pluripotent stem cells (iPSCs) and corrected disomy 21 (cDi21)-iPSCs.

Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.

Background: Restrictive cardiomyopathy in children is rare and outcomes are very poor. However, little information is available concerning genotype-outcome correlations.

Methods: We analyzed the clinical characteristics and genetic testing, including whole exome sequencing, of 28 pediatric restrictive cardiomyopathy patients who were diagnosed from 1998 to 2021 at Osaka University Hospital in Japan.

Pathogenic Roles of Cardiac Fibroblasts in Pediatric Dilated Cardiomyopathy.

Background Dilated cardiomyopathy (DCM) is a major cause of heart failure in children. Despite intensive genetic analyses, pathogenic gene variants have not been identified in most patients with DCM, which suggests that cardiomyocytes are not solely responsible for DCM. Cardiac fibroblasts (CFs) are the most abundant cell type in the heart.

Use of drug-coated balloon instead of drug-eluting stent for pediatric cardiac allograft vasculopathy.

Cardiac allograft vasculopathy (CAV) sometimes leads to restenosis, even after percutaneous transcatheter intervention. Recently, drug-coated balloons (DCBs) have been successfully used to treat coronary artery disease, especially CAVs, in adults. However, no studies have used DCBs in pediatric CAVs.

Immunogenicity of SARS-CoV-2 vaccination in adolescents with cardiac disease.

Background: Although widely reported to affect older adults more, coronavirus disease 2019 (COVID-19) also affects adolescents, especially those with co-morbidities, including heart diseases. The safety and efficacy of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) mRNA vaccines has been established in healthy adolescents, yet there are few data for humoral and cellular immunogenicity in adolescents with cardiac diseases.

Methods: We evaluated anti-spike antibodies, neutralizing activities, and interferon-gamma production prior to and after SARS-CoV-2 vaccination in adolescents with cardiac diseases and healthy controls.

Atomic force microscopy identifies the alteration of rheological properties of the cardiac fibroblasts in idiopathic restrictive cardiomyopathy.

Restrictive cardiomyopathy (RCM) is a rare disease characterized by increased ventricular stiffness and preserved ventricular contraction. Various sarcomere gene variants are known to cause RCM; however, more than a half of patients do not harbor such pathogenic variants. We recently demonstrated that cardiac fibroblasts (CFs) play important roles in inhibiting the diastolic function of cardiomyocytes via humoral factors and direct cell-cell contact regardless of sarcomere gene mutations.

Urinary β2-microglobulin as an early marker of infantile enterovirus and human parechovirus infections.

Enterovirus and human parechovirus (HPeV) are RNA viruses belonging to the family Picornaviridae that frequently infect infants. These infections show a wide variety of clinical manifestations, from mild to severe. However, there are no known early clinical markers for diagnosis and prediction of disease severity.

Opacity effect on extreme ultraviolet radiation from laser-produced tin plasmas.

Opacity effects on extreme ultraviolet (EUV) emission from laser-produced tin (Sn) plasma have been experimentally investigated. An absorption spectrum of a uniform Sn plasma generated by thermal x rays has been measured in the EUV range (9-19 nm wavelength) for the first time. Experimental results indicate that control of the optical depth of the laser-produced Sn plasma is essential for obtaining high conversion to 13.