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Streptococcus agalactiae or group B streptococcus (GBS) is a pathogen that causes severe neonatal infections, resulting in sepsis, pneumonia, and meningitis. Neonatal GBS meningitis has a poor neurological prognosis and a high mortality rate. GBS disease is classified as early- and late-onset if the onset age is 0-6 and 7-89 days after birth, respectively. There is currently no effective preventive strategy against late-onset GBS (LOGBS) disease. Here, we report a case of female infant with LOGBS meningitis who recovered from the septic shock by two exchange transfusions (ExTs) but still experienced severe neurological sequela. She was born at a gestational age of 39 weeks via caesarian section due to oligohydramnios and had fever 11 days after birth. GBS was detected in her cerebrospinal fluid (CSF) and blood but not in the vaginal or breast-milk cultures of the mother. The patient was treated with intravenous antibiotic administration; however, she suddenly developed pulseless ventricular tachycardia and asystole the next day. Her heart rate was normalized via cardiopulmonary resuscitation. We also performed two ExTs, and she recovered from the septic shock. Cytokine-profile analysis revealed that the serum and CSF levels of various pro-inflammatory and anti-inflammatory cytokines were elevated before the ExTs, after which the serum levels of several of these cytokines decreased. Two ExTs were effective in saving the life of the patient but did not improve the neurological prognosis. Given that neonatal GBS meningitis has high fatality and sequela rates; thus, it is necessary to establish a preventive strategy.

Barth syndrome is an X-linked disorder usually diagnosed in infancy. It is characterized by hypotonia, dilated cardiomyopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria. The syndrome is typically caused by mutations in the TAZ (G4.5) gene, which encodes a novel protein family called the tafazzins. We report the case of two brothers with Barth syndrome and left ventricular noncompaction (LVNC) caused by a splice donor mutation in TAZ. Both had impaired sucking ability at the age of 2 months. The elder brother was diagnosed with LVNC at the age of 4 months; by that time he had developed severe heart failure with metabolic decompensation. He died at 12 months of age due to intractable heart failure despite pharmacological therapy with diuretics, an angiotensin-converting enzyme inhibitor, and a beta-blocker. However, the younger brother, who was diagnosed as having Barth syndrome and LVNC with heart failure at the age of 2 months, received early medical treatment and demonstrated normal echocardiographic findings. Conclusion: The clinical courses of Barth syndrome observed in our cases show the phonotypic variability of this syndrome and suggest that early therapy may be beneficial for maintaining cardiac function.

In children who have undergone a bidirectional Glenn procedure without antegrade or additional pulmonary blood flow, we have often noted a discrepancy between apparent lung perfusion on scintigraphy and superior vena cava angiography when evaluating right and left pulmonary blood flow. We found a tendency for radionuclide, tracer 99mTc-MAA, when administered through a single upper extremity vein, to preferentially accumulate in the ipsilateral lung. In the present study, we examined whether the ratio of right-to-left pulmonary flow varied when 99mTc-MAA was administered via either the right upper or the left upper extremity vein. We studied six children (median age 1.3 ± 0.23 years) who underwent a bidirectional Glenn before total cavopulmonary connection. Five children who underwent biventricular repair served as a control. Perfusion scintigraphy using 99mTc-labeled macroaggregated albumin (99mTc-MAA) was performed in all children. First, we injected radionuclide via the right upper extremity and calculated the pulmonary accumulation in both lungs (R-image). Second, we injected the same dose of radionuclide via the left upper extremity and calculated the pulmonary accumulation (B-image), which represented the resulting administration via both upper extremities. The lung accumulation that resulted from radionuclide administration via the left upper extremity (L-image) was determined by subtracting the R-image from the B-image. We evaluated the right-to-total pulmonary blood flow ratio (radionuclide accumulation in right lung / radionuclide accumulation in both lungs) in the R-, L- and B-images. The right-to-total pulmonary blood flow ratios in the R-, L- and B-images were 815 ± 15.3%, 39.8 ± 11.7% and 61.3 ± 11.8%, respectively, and there were significant differences among the three images (P

TAZ (G4.5) was initially identified as the gene associated with Barth syndrome and left ventricular noncompaction (LVNC). The purpose of this study was to investigate patients with LVNC for disease-causing mutations in TAZ. In 124 Japanese patients, including 50 families, mutation analysis of TAZ was performed using DNA sequencing. A splice donor mutation was identified in two brothers with Barth syndrome and LVNC, and a sister who was asymptomatic. However, the variant was not identified in either parent or the maternal grandparents, all of whom were asymptomatic. Due to the recurrent inheritance of this variant by each of the children we concluded that this was evidence of gonadal mosaicism in the obligate carrier mother, the first reported occurrence of this in Barth syndrome.

To evaluate whether SP-D concentration is a useful biomarker of the severity of respiratory syncytial virus (RSV) bronchiolitis, we determined SP-D concentrations in patients with RSV bronchiolitis with or without chronic heart disease. We enrolled 52 patients who had been diagnosed with RSV bronchiolitis and required admission to the hospital at the Department of Pediatrics of Fukushima Medical University School of Medicine from 2004 through 2005. These patients were divided into two groups: Group 1 consisted of patients without any underlying disease and Group 2 consisted of patients with chronic heart disease. These patients were assigned to one of three categories. Stage A consisted of patients without oxygen dosage, Stage B of patients who required oxygen dosage, and Stage C of patients required artificial respiration. We evaluated baseline characteristics, clinical features, and serum SP-D concentration in Group 1, Group 2, and a control group (healthy infants without infection). Mean serum SP-D concentrations in patients with RSV bronchiolitis were higher than those in the control group (125.8 ± 49.3 and 44.2 ± 20.1 ng/ml, respectively). Mean serum SP-D concentration was also higher in Group 2 than in Group 1 patients (160.4 ± 56.4 and 112.3 ± 39.4 ng/ml, respectively). Mean serum SP-D concentrations were higher in Stage C than in Stages A or B patients, and mean serum SP-D concentrations were higher in Stage B than in Stage A. These findings suggest that serum SP-D is associated with the severity of RSV bronchiolitis and that it may be a useful biomarker for the severity of RSV bronchiolitis.