A surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.

The early-onset form of carnitine palmitoyltransferase (CPT) II deficiency has severe outcomes; patients typically die during the newborn period. We report a case of neonatal-onset CPT II deficiency with prolonged survival, exceeding 24 months. The patient was successfully treated by continuous hemodialysis (CHD), which enabled her to overcome repeated crises.

Decrease of Cardiac Base Rotation in 2D Speckle Tracking Indicates Drug-induced Cardiomyopathy After Chemotherapy in Children With Cancer.

Drug-induced cardiomyopathy can be life-threatening in patients with cancer. Our objective was to explore early detection of drug-induced cardiomyopathy in children with cancer. We enrolled pediatric outpatients diagnosed with cancer between 2012 and 2013.

Non-invasive Monitoring of Hepatic Oxygenation Using Time-Resolved Spectroscopy.

Unlabelled: The aim of the present study was to investigate whether changes in hepatic oxygenation can be detected by time-resolved spectroscopy (TRS) placed on the skin surface above the liver.

Methods: With approval of the local Hospital Ethics Committee and informed consent, six healthy volunteers aged 28.8 (25-36) years, and five patients with chronic renal failure aged 70.

Immunoglobulin G values before treatment are correlated with the responsiveness to initial intravenous immunoglobulin therapy for Kawasaki disease.

Background: Low levels of serum immunoglobulin G (IgG) before intravenous immunoglobulin (IVIG) therapy for Kawasaki disease (KD) have been reported as one of the risk factors for coronary artery abnormalities (CAAs). This risk factor needs to be re-evaluated because the dosage of IVIG has changed from 0.2-0.

Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis.

Cystic fibrosis (CF) is an autosomal recessive disease caused by mutations in CFTR (CF transmembrane conductance regulator). Although CF is the most common hereditary disease in Caucasians, it is rare in Asian populations. Common disease-causing mutations of CFTR in Caucasians are rarely identified in Japanese patients with CF.

Serum procalcitonin value is useful for predicting severity of Kawasaki disease.

We measured serum procalcitonin concentrations in 160 patients suffering from Kawasaki disease. Serum procalcitonin was significantly higher in nonresponders to an initial intravenous immunoglobulin treatment than in responders. A cutoff value of procalcitonin (0.