Progressive myoclonic epilepsy as an expanding phenotype of NGLY1-associated congenital deglycosylation disorder: A case report and review of the literature.

Introduction: NGLY1-associated congenital disorder of deglycosylation (CDDG1: OMIM #615273) is a rare autosomal recessive disorder caused by a functional impairment of endoplasmic reticulum in degradation of glycoproteins. Neurocognitive dysfunctions have been documented in patients with CDDG1; however, deteriorating phenotypes of affected individuals remain elusive.

Case Presentation: A Japanese boy with delayed psychomotor development showed ataxic movements from age 5 years and myoclonic seizures from age 12 years.

Kawasaki Disease and Vaccination: Prospective Case-Control and Case-Crossover Studies among Infants in Japan.

The causal effects of vaccines on Kawasaki disease (KD) remain elusive. We aimed to examine the association between vaccines administered during infancy and the development of KD in Japan. We conducted a multicenter prospective case-control study using questionnaires and compared the vaccination status of infants (age: 6 weeks to 9 months) who developed KD (KD group; = 102) and those who did not develop KD (non-KD group; = 139).

Assessment of Pediatric Admissions for Kawasaki Disease or Infectious Disease During the COVID-19 State of Emergency in Japan.

Importance: The development of Kawasaki disease (KD) has been suggested to be associated with droplet- or contact-transmitted infection; however, its triggers and transmission modes remain to be determined. Under an epidemic of SARS-CoV-2, the COVID-19 state of emergency in Japan served as a nationwide social experiment to investigate the impact of quarantine or isolation on the incidence of KD.

Objective: To assess the role of droplet or contact transmission in the etiopathogenesis of KD.

Strong Association of the Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population.

Nephrotic syndrome is the most common cause of chronic glomerular disease in children. Most of these patients develop steroid-sensitive nephrotic syndrome (SSNS), but the loci conferring susceptibility to childhood SSNS are mainly unknown. We conducted a genome-wide association study (GWAS) in the Japanese population; 224 patients with childhood SSNS and 419 adult healthy controls were genotyped using the Affymetrix Japonica Array in the discovery stage.

Clarithromycin Plus Intravenous Immunoglobulin Therapy Can Reduce the Relapse Rate of Kawasaki Disease: A Phase 2, Open-Label, Randomized Control Study.

Background: We previously reported that biofilms and innate immunity contribute to the pathogenesis of Kawasaki disease. Therefore, we aimed to assess the efficacy of clarithromycin, an antibiofilm agent, in patients with Kawasaki disease.

Methods And Results: We conducted an open-label, multicenter, randomized, phase 2 trial at 8 hospitals in Japan.

Clinicopathologic correlation and outcome of C1q nephropathy.

Background And Objectives: The number of patients with C1q nephropathy (C1qN) in previous reports is small and the duration of follow-up is short. Our study describes the clinicopathologic correlation and clinical outcome through the mean follow-up period of 7.2 yr in 61 patients.

Clinicopathologic correlation of C1q nephropathy in children.

Background: Clinicopathologic correlation of C1q nephropathy is clarified poorly. The aim of our study is to clarify clinicopathologic correlation in childhood C1q nephropathy.

Methods: Thirty children aged 3 to 15 years who met criteria proposed by Jennette and Hipp were enrolled in this study.

De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome.

Purpose: To describe a Japanese patient with papillorenal syndrome (PRS) and to identify the genetic defect responsible for the disease.

Design: Interventional case report.

Methods: Complete ophthalmologic and systemic examinations were performed, and direct genomic sequencing of the PAX2 gene.