Objectives: Osteomyelitis (OM) and septic arthritis (SA) in childhood might cause complications, sequelae, or even death if diagnosis and treatment are delayed. Here, we examined the outcomes of OM/SA at a pediatric emergency core hospital in Japan.
Methods: This was a single-center, retrospective, observational cohort study at a pediatric emergency core hospital in Japan.
The purpose of this study was to clarify the effects of individual infection control measures and physical distancing on pediatric medical care in a local prefecture in Japan, where the incidence of coronavirus disease (COVID-19) in pediatric patients was extremely low. We extracted data from hospital records on the number of outpatients, inpatients, infectious disease consultations, and consultations for representative pediatric diseases. We compared attendance in 2017-2019, before the COVID-19 pandemic, with 2020, when COVID-19 spread to Japan.
View Article and Find Full Text PDFPyomyositis is an infection of the skeletal muscle that involves intramuscular abscess formation. It is typically caused by gram-positive bacteria, especially . Few cases of pyomyositis have been reported in immunocompromised adult patients, while none have been reported in children.
View Article and Find Full Text PDFA disintegrin and metalloprotease 17 (ADAM17) is the major sheddase that processes more than 80 substrates, including tumour necrosis factor-α (TNFα). The homozygous genetic deficiency of ADAM17 causing a complete loss of ADAM17 expression was reported to be linked to neonatal inflammatory skin and bowel disease 1 (NISBD1). Here we report for the first time, a family with NISBD1 caused by functionally confirmed compound heterozygous missense variants of ADAM17, namely c.
View Article and Find Full Text PDFUnlabelled: Background : In clinical practice, a large proportion of patients with multiple congenital anomalies and/or intellectual disabilities (MCA / ID) lacks a specific diagnosis. Recently, next-generation sequencing (NGS) has become an efficient strategy for genetic diagnosis of patients with MCA/ID.
Objective: To review the utility of NGS for the diagnosis of patients with MCA / ID.
Background : Biotin is a water-soluble vitamin that plays various biological roles through histone modification, such as immune functions and fetal growth. Mammalian maternal biotin deficiency during gestation induces fetal growth restriction. Preterm infants are known to be marginal biotin deficiency.
View Article and Find Full Text PDFBackground: We recently demonstrated that preterm neonates have higher urinary angiotensinogen (AGT) levels than full-term neonates. Here, we tested the hypothesis that enhanced neonatal AGT expression is associated with intrarenal renin-angiotensin system (RAS) status during kidney development.
Methods: We prospectively recruited neonates born at our hospital and healthy children with minor glomerular abnormalities between April 2013 and March 2017.
CHARGE syndrome is a rare autosomal dominant developmental disorder involving multiple organs. CHD7 is a major causative gene of CHARGE syndrome. We performed targeted-exome sequencing using a next-generation sequencer for molecular diagnosis of a 4-month-old male patient who was clinically suspected to have CHARGE syndrome, and report a novel monoallelic mutation in CHD7, NM_017780.
View Article and Find Full Text PDFMeasles-rubella-mumps vaccination is routine in many countries, but the mumps vaccine remains voluntary and is not covered by insurance in Japan. A 5-year-old Japanese boy who had not received the mumps vaccine was affected by mumps parotitis. Several days later, he presented with various neurological abnormalities, including akinesia, mutism, dysphagia, and uncontrolled respiratory disorder.
View Article and Find Full Text PDFWe reported a case of Barber-Say syndrome (BSS) in a Japanese newborn. Distinctive features of BSS were found; macrostomia, gingival dysplasia, cup-shaped low-set ears, wrinkling redundant skin, and hypertrichosis. Fundus showed subretinal drusenoid deposits, a novel finding of BSS.
View Article and Find Full Text PDFAcute acalculous cholecystitis (AAC) is a rare complication of infectious mononucleosis (IM). An immunocompetent 6-year-old Japanese girl complained of epigastralgia during the course of IM. Ultrasonography (US) revealed a markedly thickened and sonolucent gallbladder wall.
View Article and Find Full Text PDF