Normative Data and Predictive Equation of Interrupter Airway Resistance in Preschool Children in Japan.

Measurement of interrupter airway resistance (Rint) is a convenient alternative to standard spirometry for assessing respiratory function in uncooperative young children. The aim of the present prospective study was to establish the normative data and predictive equation of Rint in Japanese preschool children. A total of 214 children were enrolled from a single kindergarten; however, 129 were excluded because they met at least 1 of the exclusion criteria, such as wheezing history or recent common cold.

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

CMCD is a rare congenital disorder characterized by persistent or recurrent skin, nail, and mucosal membrane infections caused by Candida albicans. Heterozygous GOF STAT1 mutations have been shown to confer AD CMCD as a result of impaired dephosphorylation of STAT1. We aimed to identify and characterize STAT1 mutations in CMCD patients and to develop a simple diagnostic assay of CMCD.

Fatal tracheo-innominate artery fistula after tracheostomy in a patient with Pelizaeus-Merzbacher disease.

Tracheo-innominate artery fistula (TIF) is a serious, life-threatening complication following tracheostomy. We report a fatal TIF in a 15-year-old girl with Pelizaeus-Merzbacher disease. She received a tracheostomy for prolonged translaryngeal intubation due to acute respiratory failure without a trial of noninvasive ventilatory support before intubation.

Serum KL-6 and surfactant protein D in children with 2009 pandemic H1N1 influenza infection.

Background: A global pandemic influenza A (H1N1) outbreak occurred in 2009. Rapid progress of respiratory distress is one of the characteristic features of pandemic influenza A (H1N1) infection. The physiologic mechanism causing hypoxia in pandemic influenza A (H1N1) infection, however, has not been elucidated.

Relapsing autoimmune pancreatitis in a 14-year-old girl.

We present a case of acute pancreatitis in a 14-year-old girl which fulfilled the diagnostic criteria of autoimmune pancreatitis (AIP) and responded to corticosteroid therapy. Imaging studies revealed that the main pancreatic duct was narrow in the head of the pancreas but had been dilated in the body at an earlier stage. The pancreatitis recurred twice when the prednisolone dose was reduced to 10 mg or less but responded each time to an increased dose and has been kept under control with low-dose prednisolone therapy for 3 years since onset.

A deep intronic mutation in the SLC12A3 gene leads to Gitelman syndrome.

Many mutations have been detected in the SLC12A3 gene of Gitelman syndrome (GS, OMIM 263800) patients. In previous studies, only one mutant allele was detected in approximately 20 to 41% of patients with GS; however, the exact reason for the nonidentification has not been established. In this study, we used RT-PCR using mRNA to investigate for the first time transcript abnormalities caused by deep intronic mutation.

An 8-year-old boy with vertebral artery dissection with cerebellar ataxia featuring suspected vertebral artery hypoplasia.

We report an 8-year-old boy with left vertebral artery dissection featuring cerebellar ataxia in which congenital vertebral artery hypoplasia was suspected as a predisposing factor in the dissection. The patient suddenly suffered from vertigo and vomiting while swimming, and he was brought to our department. The initial brain Computed Tomography (CT) demonstrated no abnormalities, and his symptoms disappeared the next morning.

Possible synergic effect of angiotensin-I converting enzyme gene insertion/deletion polymorphism and angiotensin-II type-1 receptor 1166A/C gene polymorphism on ischemic heart disease in patients with Kawasaki disease.

ACE I/D and AT1R 1166A/C polymorphisms are considered to comprise individual risk factors for the development of coronary disease. We sought to demonstrate that the ACE I/D and AT1R 1166A/C polymorphisms affect coronary artery stenosis in patients with Kawasaki disease (KD). We examined 147 healthy controls and 281 Japanese children with KD.

Serum KL-6 levels in pediatric patients: reference values for children and levels in pneumonia, asthma, and measles patients.

Serum KL-6 reflects alveolar damage and regeneration of type II pneumocytes, indicating disease activity in various interstitial lung diseases. We conducted a descriptive and observational multiple case-control study to determine the distribution of serum KL-6 levels in pediatric patients with or without respiratory diseases. Subjects were recruited from the patients of a teaching hospital in the suburb of Tokyo.