Filamin C Truncating Variant Causes Severe Conduction Defects and Mild Cardiomyopathy.

Filamin C (FLNC), recently identified as a causative gene of cardiomyopathy, is widely expressed in cardiomyocytes and is involved in signal transduction between the sarcomere and the plasma membrane. In general, the FLNC truncating variant causes severe dilated cardiomyopathy. A 70-year-old female was referred to our hospital with advanced conduction defects and underwent pacemaker implantation.

Concomitant Interstitial Pneumonia and Disseminated BCG Infection after Intravesical BCG Therapy: A Case Report.

An 83-year-old man presented with persistent fever after intravesical BCG therapy for bladder cancer. Chest computed tomography (CT) and bronchoscopy revealed diffuse ground-glass opacities with multiple micronodules and lymphocyte-predominant bronchoalveolar lavage fluid with a high CD4/CD8 ratio, respectively. Therefore, corticotherapy for interstitial pneumonia was initiated.

Lower-limb muscle synergies in musician's dystonia: a case study of a drummer.

Musician's dystonia (MD) is a movement disorder characterized by involuntary muscle contractions specifically triggered by playing an instrument. This condition often leads to a loss of fine motor control, threatening the careers of affected musicians. While MD is commonly associated with the hands, it can also affect the lower limbs, particularly in drummers.

Interleukin-33 Deficiency Protects the Skin From Ulcer Formation in an Ischemia-Reperfusion-Induced Decubitus Mouse Model.

Interleukin-33 (IL-33) is an alarmin released upon epithelial tissue damage. It functions as a nuclear factor for regulating gene expression. We hypothesised that IL-33 is involved in the formation of decubitus ulcers through damaged epidermis.

Drumming performance and underlying muscle activities in a professional rock drummer with lower-limb dystonia: a case study.

Task-specific focal dystonia (TSFD), characterized by the loss of fine motor control and coordination, affects drummers' lower-limb movements. This study explores lower-limb dystonia's impact on drumming performance and underlying muscle activity in a professional rock drummer. The drummer executed an eight-beat pattern on a drum kit.

Overexpression of the β-Subunit of Acid Ceramidase in the Epidermis of Mice Provokes Atopic Dermatitis-like Skin Symptoms.

We previously reported that a pathogenic abnormality in the barrier and water-holding functions of the stratum corneum (SC) in the skin of patients with atopic dermatitis (AD) is mainly attributable to significantly decreased levels of total ceramides in the SC. That decrease is mediated by the abnormal expression of a novel ceramide-reducing enzyme, sphingomyelin/glucosylceramide deacylase (SGDase), which is the β-subunit (ASAH1b) of acid ceramidase. In this study, we determined whether mice overexpressing ASAH1b in their epidermis develop AD-like skin symptoms.

Antioxidant compounds produced by endolichenic fungus Penicillium sp.-strain 1322P isolated from Pyxine subcinerea.

Endolichenic fungi are expecting for new bioresources of pharmacological compounds. However, the number of investigations targeting antioxidant compounds produced by endolichenic fungi remains limited. To discover new antioxidant compounds, we analyzed the antioxidant activity of the methanol extracts derived from isolated lichen mycobionts or endolichenic fungi induced from Pyxine subcinerea.

Treatment patterns of systemic drug use in Japanese patients with plaque psoriasis: A retrospective chart review.

Plaque psoriasis (PsO) is a chronic immune-mediated inflammatory disease with skin lesions accompanied by an inflammation-related comorbidity risk. The development of various oral drugs and biologics for PsO has provided increasing systemic treatment options for patients with PsO, and the guidance regarding the use of biologics and PsO treatment schemes are widespread in Japan. However, no comprehensive guidelines regarding systemic drug use are available, and the current treatment patterns of systemic drugs for PsO in Japan remain unclear.

Abscopal effect with fever of unknown cause during radiotherapy: Two case reports and review of the literature.

The abscopal effect is a rare phenomenon that is defined as regression of tumor lesions distant from irradiation targets. At our department, two cases with an abscopal effect with fever of unknown cause (FUC) and an inflammatory response during radiotherapy were encountered. Radiotherapy is a local treatment; therefore, it rarely causes systemic side effects during radiotherapy, and if a patient develops a fever during radiotherapy, it is frequently considered tumor fever.

TLR7/8 stress response drives histiocytosis in SLC29A3 disorders.

Loss-of-function mutations in the lysosomal nucleoside transporter SLC29A3 cause lysosomal nucleoside storage and histiocytosis: phagocyte accumulation in multiple organs. However, little is known about the mechanism by which lysosomal nucleoside storage drives histiocytosis. Herein, histiocytosis in Slc29a3-/- mice was shown to depend on Toll-like receptor 7 (TLR7), which senses a combination of nucleosides and oligoribonucleotides (ORNs).

Clinical guidance of pyoderma gangrenosum 2022.

Pyoderma gangrenosum (PG) is a rare, neutrophilic skin disease. For the purpose of accurate diagnosis and proper treatment of PG, the Japanese clinical practice guidance for PG developed by the Japanese Dermatological Association was published in 2022. In this guidance, clinical aspects, pathogenesis, current therapies, and clinical questions on PG are described from the viewpoints of current knowledge and evidence-based medicine.

Single-center survey of incidental imaging findings on computed tomography in patients with psoriasis on biologic therapy.

Psoriasis is an immune-mediated chronic inflammatory disease that predominantly affects the skin and joints. Systemic therapies are required for patients with moderate-to-severe psoriasis, and biologics can provide significant symptomatic improvement. Computed tomography (CT) analysis is recommended before and after biologic therapy to exclude the possibility of comorbid infections and malignancies; incidental findings are often detected in asymptomatic patients.

English version of Japanese guidance for the use of oral Janus kinase inhibitors (JAK1 and TYK2 inhibitors) in the treatments of psoriasis.

This is the English version of Japanese guidance for the use of oral Janus kinase (JAK) inhibitors (JAK1 and tyrosine kinase 2 [TYK2] inhibitors) in the treatments of psoriasis. Several cytokines, such as interleukin (IL)-6, IL-7, IL-12, IL-21, IL-22, IL-23, interferon (IFN)-α, and IFN-γ, are involved in the pathogenesis of psoriasis (including psoriatic arthritis). As oral JAK inhibitors hinder the JAK-signal transducers and activators of transcription signal transduction routes involved in the signal transduction of these cytokines, they may be effective for the treatment of psoriasis.

Four-year drug survival of apremilast in patients with psoriasis.

This real-world study at a single academic center retrospectively examined the drug survival of apremilast for patients with psoriasis. Retrospective information was extracted from the medical records of patients with psoriasis treated with apremilast at the Department of Dermatology, Jichi Medical University Hospital, between March 1, 2017, and June 31, 2021. In total, 281 patients were included in this study.

Elucidating the NB-UVB mechanism by comparing transcriptome alteration on the edge and center of psoriatic plaques.

Narrow band-ultraviolet B (NB-UVB) is an effective treatment for psoriasis. We aim to generate a potential mechanism of NB-UVB through comparing the transcriptomic profile before and after NB-UVB treatment between the peripheral edge of lesional skin (PE skin) and the center of lesional skin (CE skin) on the basis of molecular mechanisms of these two areas display different downstream functions. More than one-fourth of the NB-UVB-altered genes were found to be plaque-specific.

A discrete choice experiment on oral and injection treatment preferences among moderate-to-severe psoriasis patients in Japan.

Long-term psoriasis (PsO) management remains challenging. With growing variation in treatment efficacy, cost, and modes of administration, patient preferences for different treatment characteristics are not well understood. A discrete choice experiment (DCE), informed by qualitative patient interviews, was conducted to assess patient preferences for different attributes of PsO treatments; 222 adult patients with moderate-to-severe PsO receiving systemic therapy participated in the DCE web survey.

Anorexia Assessed by Simplified Nutritional Appetite Questionnaire and Association with Medication in Older Patients Undergoing Hemodialysis.

Anorexia is a common symptom in older patients undergoing hemodialysis (HD) and has become a serious problem in dialysis facilities with the aging of patients. Polypharmacy, defined as the prescription of several medications, is known to cause drug-induced anorexia. Although polypharmacy is also common in older patients undergoing HD, only a few studies have examined the association between anorexia and polypharmacy.