Overlapping Features in Kawasaki Disease-Related Arthritis and Systemic-Onset Juvenile Idiopathic Arthritis: A Nationwide Study in Japan.

Arthritis may occur after the diagnosis of Kawasaki disease (KD). Most cases are self-limiting; however, some patients require prolonged treatment. To characterize KD-related arthritis, 14 patients who required arthritis treatment within 30 days after the diagnosis of KD were recruited from the 23rd KD survey in Japan.

Distinct genetic clades of enterovirus D68 detected in 2010, 2013, and 2015 in Osaka City, Japan.

The first upsurge of enterovirus D68 (EV-D68), a causative agent of acute respiratory infections (ARIs), in Japan was reported in Osaka City in 2010. In this study, which began in 2010, we surveyed EV-D68 in children with ARIs and analyzed sequences of EV-D68 strains detected. Real-time PCR of 19 respiratory viruses or subtypes of viruses, including enterovirus, was performed on 2,215 specimens from ARI patients (<10 years of age) collected between November 2010 and December 2015 in Osaka City, Japan.

Health-related quality of life in Japanese children with acute lymphoblastic leukemia during and after chemotherapy.

Background: Quality of life (QOL) as a treatment outcome has not yet been evaluated among patients receiving a specific treatment regimen by treatment phase in a consistent manner. This exploratory cross-sectional study evaluated the QOL of children with acute lymphoblastic leukemia (ALL) receiving one of the most popular treatment regimens in Japan (Japan Association of Childhood Leukemia Study ALL-02 revised protocol).

Methods: Children aged 5-18 years with newly diagnosed B-cell precursor ALL were included.

Japanese Male Siblings with 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (HSD10 Disease) Without Neurological Regression.

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) is a rare X-linked disorder caused by a mutation in the HSD17B10 gene. Fewer than 30 patients with this disorder have been reported worldwide. The classical infantile form of HSD10 disease is characterized by a progressive neurodegenerative course with retinopathy and cardiomyopathy, although HSD10 disease has broad clinical heterogeneity.

Seasonal variations of respiratory viruses and etiology of human rhinovirus infection in children.

Background: Using the polymerase chain reaction (PCR) method it is possible to detect uncultivable viruses and discover multiple viral infections. However, the clinical importance of these findings in relation to symptoms is not known.

Objectives: The seasonal fluctuations of respiratory viruses and the clinical outcomes of single infections and dual infections were investigated.

Human parechovirus infections and child myositis cases associated with genotype 3 in Osaka City, Japan, 2014.

Human parechovirus (HPeV) infects humans early in life and typically causes asymptomatic or mild diseases such as gastrointestinal and respiratory illness but sometimes leads to more serious consequences in neonates and young infants. In 2014, we detected HPeV from 38 patients by real-time reverse transcription-PCR in Osaka City, Japan, and 33 HPeV strains were genotyped based on their VP1 sequences. HPeV genotype 3 (HPeV-3) was the most prevalent and accounted for 22 cases (66.

Associations between co-detected respiratory viruses in children with acute respiratory infections.

Viruses are the major etiological agents of acute respiratory infections (ARIs) in young children. Although respiratory virus co-detections are common, analysis of combinations of co-detected viruses has never been conducted in Japan. Nineteen respiratory viruses or subtypes were surveyed using multiplex real-time PCR on 1,044 pediatric (patient age < 6 years) ARI specimens collected in Osaka City, Japan between January 2010 and December 2011.

Pediatric hospitalizations with influenza A infection during the 2009-2010 pandemic in five hospitals in Japan.

Background: The aim of this study was to identify the clinical characteristics of hospitalized children with the 2009 pandemic influenza virus infection in Japan.

Methods: We retrospectively reviewed cases of hospitalized children younger than 16 years with laboratory-confirmed influenza A virus infection during the 2009-2010 pandemic season in five hospitals in Japan.

Results: A total of 515 cases were included in the analysis.

Molecular epidemiology of human rhinovirus C in patients with acute respiratory tract infections in Osaka City, Japan.

Human rhinovirus (HRV) is a causative agent of acute respiratory tract infection (ARTI). In 2007, a novel HRV group, HRV-C, was discovered. This study, which assessed whether HRV-C is epidemic among patients with ARTI, was aimed at analyzing the seasonal prevalence of HRV-C in Osaka City, Japan.

Enterovirus 68 in children with acute respiratory tract infections, Osaka, Japan.

Enterovirus 68 strains were detected in 14 specimens from children with respiratory tract infections and 1 specimen from a child with febrile convulsions during 2010 in Osaka, Japan. These strains had deletions in the 5' untranslated region and were genetically different from reported strains. This virus is associated with respiratory tract infections in Japan.

Kampo medicines improved blood test and QOL in two vasculitis cases of Churg-Strauss syndrome and Henoch-Shönlein purpura after inadequate treatment with conventional therapies.

Objective: Based on the tenets of traditional Chinese medicine (TCM) theory, Kampo medicines were selected and applied to two cases of Churg-Strauss syndrome and Henoch-Shönlein purpura. Two vasculitis syndrome patients exhibited persistent symptoms and abnormal blood tests after treatment with conventional therapies.

Methods: As the two cases had "blood stagnation" and "damps and heat" and one had a "yang deficiency" in terms of TCM theory, we applied certain selected Kampo medicines.

Detection of measles virus RNA on SYBR green real-time reverse transcription-polymerase chain reaction.

Background: As the coverage rate of the measles vaccine increases, not all patients present the typical symptoms of measles after exposure to the measles virus (MV). The virus loads in clinical specimens from patients with vaccine-modified non-typical measles are expected to be low compared with those of primary MV infection. A rapid and sensitive laboratory procedure is required for diagnosis of measles.

Evaluation of real-time RT-PCR compared with conventional RT-PCR for detecting human metapneumovirus RNA from clinical specimens.

Human metapneumovirus (hMPV) is an etiologic agent of respiratory tract infections. In this study, we compared the sensitivity and specificity of real-time reverse transcription (RT)-polymerase chain reaction (PCR), conventional RT-PCR, and nested PCR in detecting hMPV genes. A total of 146 clinical specimens from 143 patients who showed acute respiratory tract infection symptoms were tested by real-time RT-PCR, conventional RT-PCR, and nested PCR targeting for the fusion gene.

Co-infection of human metapneumovirus with adenovirus or respiratory syncytial virus among children in Japan.

Human metapneumovirus (hMPV) is one of the etiological agents of acute respiratory tract infections. From June 2005 to May 2006, we collected 185 clinical specimens from children in Osaka City, Japan, and detected 41 hMPV RNA. Of the 41 specimens, four (9.

Detection of adenovirus DNA in throat swabs and blood by SYBR green real-time PCR assay in patients with adenovirus-associated tonsillitis.

The adenovirus DNA load ranged from 10(5) to 10(10) copy/mL and from 10(4) to 10(7) copy/mL in throat swabs and blood from patients with adenovirus-associated exudative tonsillitis, respectively. The copy number of adenovirus DNA in blood was positively correlated with the duration of the fever.

Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities. SBDS was identified as a causative gene for SDS in 2003, and genetic analyses of SDS have been performed. We performed genetic analysis of 13 Japanese patients with presumed SDS and found that 10 of them had SBDS mutations.

Improved outcome in the treatment of pediatric multifocal Langerhans cell histiocytosis: Results from the Japan Langerhans Cell Histiocytosis Study Group-96 protocol study.

Background: The treatment outcome of multifocal childhood Langerhans cell histiocytosis (LCH) has not been satisfactory and has resulted in poor therapeutic responses with high mortality and a high incidence of reactivation with late sequelae. To overcome these issues, the Japan LCH Study Group-96 (JLSG-96) protocol was conducted prospectively from 1996 to 2001 in Japan.

Methods: Newly diagnosed children with multifocal LCH were classified into 2 groups: a single-system multisite (SS-m) group and a multisystem (MS) group.

Seasonal distribution and phylogenetic analysis of human metapneumovirus among children in Osaka City, Japan.

Background: Human metapneumovirus (hMPV) is one of the etiological agents of respiratory tract infection (RTI). Because clinical symptoms of hMPV resemble those caused by respiratory syncytial virus (RSV), clinical diagnosis of hMPV infection is difficult. Moreover, hMPV isolation using cultured cells is generally difficult and not efficient compared with reverse transcription-PCR (RT-PCR).

A novel perforin gene mutation in a Japanese family with hemophagocytic lymphohistiocytosis.

A 4-month-old girl with clinical features of hemophagocytic lymphohistiocytosis (HLH) was successfully treated with immunochemotherapy but died at the age of 1 year and 3 months, before hematopoietic stem cell transplantation could be performed. Her family history showed death during infancy of the eldest sister, suggesting a diagnosis of familial HLH (FHL). Direct sequencing of the DNA extracted from the patient's spleen tissue obtained at autopsy revealed a novel perforin gene mutation: a homozygous 1289G insertion (Asp430 frameshift and termination at amino acid residue 457), which has not previously been reported in FHL patients.

Sensorineural hearing loss in a case of familial hemophagocytic lymphohistiocytosis.

Severe sensorineural hearing loss (bilateral >80 dB) was diagnosed in a case of familial hemophagocytic lymphohistiocytosis (FHL). The female patient developed HLH at 3 months of age and underwent allogeneic cord blood transplantation at 11 months of age following 7 months of immuno-chemotherapy. The type 2 FHL patient had a homozygous perforin gene mutation of 1090-1091delCT, and was noted to have hearing loss at 3.

Detection of adenovirus DNA in clinical samples by SYBR Green real-time polymerase chain reaction assay.

Background: Adenoviruses are associated with a variety of diseases including upper respiratory tract infections, acute conjunctivitis, cystitis and gastroenteritis. Adenoviruses can also cause fatal disseminated infections in patients undergoing stem cell transplantation. Measurement of adenovirus load in clinical samples from localized adenovirus infections or disseminated adenovirus infections may provide important information for analyzing the pathogenesis of various adenovirus infections.

A case of primary Ewing's sarcoma of the occipital bone presenting with obstructive hydrocephalus.

Background: Ewing's sarcomas account for approximately 10% of primary malignant bone tumors. While most of the primary Ewing's sarcomas occur in the long bones, pelvis, or ribs, approximately 1-6% of these sarcomas arise in the skull. We found approximately 50 cases of Ewing's sarcoma of the calvarium reported in our search of the literature.

Ineffective erythropoiesis in the spleen of a patient with pyruvate kinase deficiency.

In this study, possible adverse effects of pyruvate kinase (PK) deficiency on the maturation of erythroid progenitors were investigated. A 4-year-old Japanese girl with severe PK deficiency underwent splenectomy to reduce her need for blood transfusions. The spleen was examined a histologically, and the hematopoietic progenitors in the spleen were assayed to evaluate the extramedullary hematopoiesis of this PK-deficient subject.