A Case of Herpes Zoster Due to Varicella-Zoster Virus Vaccines in a 14-Month-old Girl.

Herpes zoster (HZ) due to Varicella-Zoster virus (VZV) vaccines is rare and the accurate incidence remains unknown. We report a case of HZ due to VZV vaccines presented in an immunocompetent 14-month-old girl 62 days after vaccination which is the youngest case from the first dose of the VZV vaccine in immunocompetent children.

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. EV-D68 was identified in 18 enterovirus-positive specimens (n = 4 in 2013, n = 1 in 2014, and n = 13 in 2015) by analysis of viral protein 1 (VP1) or VP4 sequences, followed by a BLAST search for similar sequences. All EV-D68 strains were detected between June and October (summer to autumn), except for one strain detected in 2014. A phylogenetic analysis of available VP1 sequences revealed that the Osaka strains detected in 2010, 2013, and 2015 belonged to distinct clusters (Clades C, A, and B [Subclade B3], respectively). Comparison of the 5' untranslated regions of these viruses showed that Osaka strains in Clades A, B (Subclade B3), and C commonly had deletions at nucleotide positions 681-703 corresponding to the prototype Fermon strain. Clades B and C had deletions from nucleotide positions 713-724. Since the EV-D68 epidemic in 2010, EV-D68 re-emerged in Osaka City, Japan, in 2013 and 2015. Results of this study indicate that distinct clades of EV-D68 contributed to re-emergences of this virus in 2010, 2013, and 2015 in this limited region.

Collagenous gastroduodenitis with recurrent gastric ulcer in 12-year-old girl.

This report describes a rare case of collagenous gastroduodenitis found in a 12-year-old Japanese girl who had recurrent hematemesis. Gastrointestinal endoscopy showed many lotus leaf-like lesions on the gastric mucosa surrounded by atrophic gastric mucosa in the antrum, with a cobblestone appearance and a scarred duodenal ulcer in the duodenal bulb. A biopsy of the gastric mucosa indicated subepithelial collagen band. The patient was treated with H2-blockers for her symptoms for 4 years following the endoscopic findings. Follow-up endoscopy showed the same appearance as before. The pathology, however, showed a more prominent subepithelial collagen deposition. To make the correct diagnosis, it is critical to know from which part the pathological biopsy specimens were taken because there were numerous collagen bands in the atrophic membrane. It is important to monitor the patient regularly for evaluation of the etiology, pathogenesis and prognosis of this rare disease.

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.

Aromatase excess syndrome: identification of cryptic duplications and deletions leading to gain of function of CYP19A1 and assessment of phenotypic determinants.

CONTEXT: Aromatase excess syndrome (AEXS) is a rare autosomal dominant disorder characterized by gynecomastia. Although cryptic inversions leading to abnormal fusions between CYP19A1 encoding aromatase and its neighboring genes have been identified in a few patients, the molecular basis remains largely unknown. OBJECTIVE: The objective of the study was to examine the genetic causes and phenotypic determinants in AEXS. PATIENTS: Eighteen affected males from six families participated in the study. RESULTS: We identified three types of heterozygous genomic rearrangements, i.e. a 79,156-bp tandem duplication involving seven of 11 noncoding CYP19A1 exons 1, a 211,631-bp deletion involving exons 2-43 of DMXL2 and exons 5-10 of GLDN, and a 165,901-bp deletion involving exons 2-43 of DMXL2. The duplicated exon 1 functioned as transcription start sites, and the two types of deletions produced the same chimeric mRNA consisting of DMXL2 exon 1 and CYP19A1 coding exons. The DMXL2 exon 1 harbored a translation start codon, and the DMXL2/CYP19A1 chimeric mRNA was identified in only 2-5% of CYP19A1-positive transcripts. This was in contrast to the inversion-mediated chimeric mRNA that had no coding sequence on the fused exon 1 and accounted for greater than 80% of CYP19A1-positive transcripts. CYP19A1 was expressed in a limited number of tissues, whereas its neighboring genes involved in the chimeric mRNA formation were expressed widely. CONCLUSIONS: This study provides novel mechanisms leading to gain of function of CYP19A1. Furthermore, it appears that clinical severity of AEXS is primarily determined by the tissue expression pattern of relevant genes and by the structural property of promoter-associated exons of chimeric mRNA.

Pulse methylprednisolone with gammaglobulin as an initial treatment for acute Kawasaki disease.

Approximately 15-20% of patients with Kawasaki disease (KD) are not responsive to high-dose intravenous gammaglobulin (IVIG). We have previously reported a predictive method for identifying IVIG-non-responsive patients (high-risk KD patients). We determined the safety and effectiveness of pulse methylprednisolone with high-dose IVIG (mPSL+IVIG) as a primary treatment for high-risk KD patients. Sixty-two high-risk KD patients were treated with pulse methylprednisolone 30 mg/kg over 2 h, followed by IVIG 2 g/kg over 24 h (mPSL+IVIG group) and were compared with a historical control group of 32 high-risk patients treated with IVIG 2 g/kg alone at the participating hospitals before this study was opened (IVIG group). High-risk patients were identified with at least two of three predictors (C-reactive protein >or=7 mg/dL, total bilirubin >or=0.9 mg/dL or aspartate aminotransferase >or=200 IU/L). Sixty-six percent (95% confidence interval [CI] 54-78%) of patients had a prompt defervescence in the mPSL+IVIG group compared with 44% (95% CI 26-62%) for the IVIG group (p=0.048). Coronary artery lesions were observed in 24.2% (95% CI 13.2-35.2%) and 46.9% (95% CI 28.6-65.2%) of patients in the mPSL+IVIG and IVIG groups, respectively (p=0.025). This is the first report showing that mPSL+IVIG is effective and safe as a primary treatment for high-risk KD patients.

EEG spectral analysis in children with febrile delirium.

UNLABELLED: Febrile delirium is defined as an acute and transient confusional state with high fever. There are very few reports on febrile delirium, although fever is one of the commonest symptoms in children. We previously found a posterior slowing in the electroencephalogram (EEG) of delirious patients with fever. The purpose of this study is to evaluate the features of occipital slow waves by spectral analysis and to find a parameter associated with clinical improvement. METHODS: Digital EEG tracings were investigated by Fourier analysis in 20 patients aged from 2 to 13 years. The fast Fourier transform (FFT) was computed for 20 s tracing from the P3-A1 and P4-A2 derivations. The spectral analysis of EEG was repeated in 7 patients. The tracings of 34 control subjects were also analyzed by FFT. EEG of a febrile, nine-year-old girl without delirium was also studied. RESULTS: Febrile delirium was seen during the first three days of fever. The episodes lasted up to 10 min. Four patients showed febrile delirium again after admission but they became conscious a few minutes later. The relative power in the delta frequency band was increased in 65% of patients with preservation of the occipital alpha rhythm. In addition, repeated febrile delirium did not cause worsening of the posterior slowing. The duration of abnormal EEG was only a few days and the decrease of relative power in the delta frequency band was the best parameter of clinical improvement. Posterior slowing was also found in a febrile patient without delirium. CONCLUSION: Febrile delirious children showed the characteristic clinical and spectral analytical features and the numerical data of EEG facilitate the comparison of the serial findings.

Analysis of recombinant human saposin A expressed by Pichia pastoris.

Saposins (SAPs) are small glycoproteins required for activation of sphingolipid hydrolysis by lysosomal enzymes. Four SAPs, SAP-A, -B, -C, and -D, are proteolytically cleaved from a single gene product termed prosaposin. The mature coding sequence of human SAP-A tagged with 6-histidine was expressed in Pichia pastoris and the recombinant protein was purified from the culture supernatant by simple purification steps with an immobilized metal ion affinity column, a Concanavalin A column, and reversed-phase HPLC. Secreted SAP-A contained both glycosylated and nonglycosylated forms. Both forms of SAP-A activated galactocerebroside and 4-methylumbelliferyl beta-d-glucoside hydrolysis by galactocerebrosidase and glucocerebrosidase. SAP-A expressed in P. pastoris should be useful for further structural and functional analysis of this protein.

A clinical study of febrile myoclonus in children.

Fever is sometimes associated with chill, myoclonus, delirium and convulsion. We previously reported EEG findings of febrile delirium, when we found that 18% of patients showed febrile myoclonus simultaneously with febrile delirium. The purpose of this study is to clarify the clinical features of febrile myoclonus and to investigate the relation to febrile convulsion. Myoclonic episodes were studied in 11 patients, aged 8 months to 11 years. EEG was recorded in eight patients. In the past history, febrile convulsion was noted in two patients and one of them also had febrile delirium. The age range of patients with febrile myoclonus was similar to those developing febrile convulsion except for one case. The duration of febrile myoclonus was usually from several to 30 min, but was longer than 2 h in four patients. Seventy-three percent of patients showed fear, surprise and shouting. EEG was abnormal in four patients and spike components were found in two patients. Myoclonic jerks were seen during the EEG recording in two patients and EEG findings were not concordant with epileptic myoclonic attack. Ten patients were followed for 1-2 years, and none had afebrile seizures. Febrile myoclonus is a benign symptom associated with fever. Mood change, fear or surprise and shouting with myoclonic jerks may suggest action of cytokine on the hypothalamus induced by infection. Febrile myoclonus, delirium and convulsion were seen in one patient in his first 3 years of life. These three symptoms seem to appear in children depending on their predisposition.