Elementary school enrollment after ACTH therapy for patients with infantile epileptic spasms syndrome.

Purpose: Infantile epileptic spasms syndrome (IESS) often has a severe neurodevelopmental prognosis. However, few studies have examined the aspect of elementary school enrollment. This study evaluated elementary school enrollment after adrenocorticotropic hormone (ACTH) therapy in patients with IESS.

Changes in Hepatic Density Due to Oral Amiodarone-induced Liver injury Shown by Computed Tomography.

Amiodarone is an antiarrhythmic drug that is widely used for atrial fibrillation and other refractory arrhythmias. Although beneficial, its long-term administration is associated with adverse effects on various organs. One patient presented with amiodarone-induced liver injury, which led to liver failure.

Intra-atrial block after COVID-19 vaccination-induced fulminant myocarditis: a case report.

Background: Myocarditis is associated with an increased risk of conduction disturbances during the acute phase, which recovers in most cases but rarely recurs during the chronic phase.

Case Summary: A 50-year-old man who developed fulminant myocarditis after COVID-19 mRNA vaccination was discharged 24 days after admission. He was readmitted for heart failure associated with two P waves: one P wave (P1) had a normal amplitude and was dissociated from the QRS, and the other (P2) had a very low amplitude and was associated with the QRS.

Analysis of human neutrophils from nasal polyps by single-cell RNA sequencing reveals roles of neutrophils in chronic rhinosinusitis.

Background: Chronic rhinosinusitis with nasal polyps (CRSwNP) is characterized by type 2 (T2) inflammation. Recent studies, including our own, suggest that neutrophils are also elevated in T2 nasal polyps (NP) and that elevated neutrophils display an activated phenotype. However, the actual roles of neutrophils in NP pathogenesis in T2 CRSwNP are still largely unclear.

Slc26a2-mediated sulfate metabolism is important in tooth development.

The sulfate transporter gene SLC26A2 is crucial for skeletal formation, as evidenced by its role in diastrophic dysplasia, a type of skeletal dysplasia in humans. Although SLC26A2-related chondrodysplasia also affects craniofacial and tooth development, its specific role in these processes remains unclear. In this study, we explored the pivotal roles of SLC26A2-mediated sulfate metabolism during tooth development.

Serum matrix metallopeptidase-9 levels in infantile epileptic spasms syndrome of unknown etiology.

Purpose: Epileptic spasms are the primary symptom of infantile epileptic spasms syndrome (IESS); however, their direct impact on blood-brain barrier (BBB) function is unknown. Matrix metallopeptidase-9 (MMP-9), degrades type IV collagen, a key component of the blood-brain barrier, while tissue inhibitor of metalloproteinase-1 (TIMP-1) suppresses its activity, protecting BBB integrity. This study aimed to assess serum MMP-9 and TIMP-1 levels in patients with IESS of unknown etiology.

Adrenocorticotropic hormone therapy alters Q-albumin ratios in patients with infantile epileptic spasms syndrome of unknown etiology.

Purpose: Infantile epileptic spasms syndrome (IESS) with epileptic spasms as the main seizure type, is treated with adrenocorticotropic hormone (ACTH). This study, for the first time, examines the effects of epileptic spasms and ACTH on blood-brain barrier (BBB) permeability in patients with IESS of unknown etiology.

Methods: We prospectively evaluated the changes in BBB permeability in patients with IESS of unknown etiology at the Saitama Children's Medical Center between February 2012 and February 2024.

Sustainable production of 2,3,5,6-Tetramethylpyrazine at high titer in engineered Corynebacterium glutamicum.

Unlabelled: The industrial amino acid production workhorse, Corynebacterium glutamicum naturally produces low levels of 2,3,5,6-tetramethylpyrazine (TMP), a valuable flavor, fragrance, and commodity chemical. Here, we demonstrate TMP production (∼0.8 g L-1) in C.

Inhibition of the galactosyltransferase C1GALT1 reduces osteosarcoma cell proliferation by interfering with ERK signaling and cell cycle progression.

Novel therapeutic strategies are urgently required for osteosarcoma, given the early age at onset and persistently high mortality rate. Modern transcriptomics techniques can identify differentially expressed genes (DEGs) that may serve as biomarkers and therapeutic targets, so we screened for DEGs in osteosarcoma. We found that osteosarcoma cases could be divided into fair and poor survival groups based on gene expression profiles.

A novel pathogenic variant in fibroblast growth factor 23 outside the furin-recognizing RXXR motif in an autosomal dominant hypophosphatemic rickets patient.

Introduction: Autosomal dominant hypophosphatemic rickets (ADHR) is caused by pathogenic variants in the fibroblast growth factor 23 (FGF23) gene, which plays a key role in the regulation of phosphorus metabolism. FGF23 has the RXXR motif recognized by furin, leading to cleavage between R179 and S180 and thereby inactivating the protein's function. Previously reported variants in FGF23 causing ADHR occurred only affecting residues R176 or R179, which are located in the RXXR motif, leading to impaired cleavage.

Assessment of patients' characteristics associated with the efficacy and safety of oral valganciclovir treatment for infants with symptomatic congenital cytomegalovirus disease.

Introduction: Insurance coverage for oral valganciclovir (VGCV) began in Japan in April 2023 on the basis of results, including our clinical trials for symptomatic congenital cytomegalovirus (CMV) disease. The VGCV treatment is available throughout Japan, so clinicians must consider the likelihood of hearing improvement and the possibility of neutropenia before dosing.

Materials And Methods: We performed a substudy of an investigator-initiated, single-arm, prospective, multicenter, clinical trial in which 24 infants with symptomatic congenital CMV disease were orally administered 16 mg/kg VGCV twice daily for 6 months as an intervention.

Dynamic ultrasonography for optimizing treatment position in superior mesenteric artery syndrome: Two case reports and review of literature.

Background: Superior mesenteric artery (SMA) syndrome is a rare cause of duodenal obstruction by extrinsic compression between the SMA and the aorta (SMA-Ao). Although the left lateral recumbent position is considered effective in the treatment of SMA syndrome, individual variations in the optimal patient position have been noted. In this report, we present two elderly cases of SMA syndrome that exhibited rapid recovery due to ultrasonographic dynamic evaluation of the optimal position for each patient.

Pre-procedural Stratification by the Endothelial Function in Patients with Heart Failure Undergoing Atrial Fibrillation Ablation.

Background: Endothelial dysfunction (ED), a well-established risk marker of cardiovascular events, is associated with heart failure (HF) and atrial fibrillation (AF). Its relationship with cardiovascular events in patients with HF undergoing AF ablation remains unclear. We aimed to elucidate the association between ED and the outcomes after AF ablation in patients with HF.