A study of politeness strategies adopted in pediatric clinics in Taiwan.

Drawing on Brown and Levinson's (1987) politeness theory, this study investigates the communicative interaction behaviors of physicians, patients, and patients' parents in pediatrics in Taiwan. Thirty outpatients and six senior physicians from three different levels of hospital participated in the study. The analysis results indicate that most of the communicative politeness strategies used in pediatrics are bald-on-record, direct, and non-redressed.

Chubby face and the biochemical parameters for the early diagnosis of neonatal intrahepatic cholestasis caused by citrin deficiency.

Objectives: To identify facial and biochemical characteristics as early clinical features of neonatal intrahepatic cholestasis due to citrin deficiency (NICCD).

Patients And Methods: Ten patients with diagnoses of NICCD by SLC25A13 mutation analysis in Taiwan were recruited. A "Chubby Index" was developed for objective measurement of their facial characteristics.

Early detection of glutaric aciduria type I by newborn screening in Taiwan.

Background/purpose: Glutaric aciduria type 1 (GA1) is an inborn error of lysine and tryptophan metabolism. There is a lack of initial diagnostic signs of the disease, but late treatment often results in severe neurologic impairment. In this study, we analyzed the results of screening for GA1 in a Chinese population.

A step-wise diagnosis of fragile X syndrome in Taiwan.

Fragile X syndrome (FXS), an X-linked dominant disorder, is one of the common forms of inherited mental retardation. This project aimed at identifying fragile X syndrome patients in schools by a two-step diagnosis with questionnaire and photography followed by molecular analysis. A total of 734 children with mental retardation were enrolled from kindergartens, primary schools, junior high schools, and schools for the mentally retarded.

Early cerebral images of Alexander disease: report of one case.

Alexander disease is a neurodegenerative disorder characterized pathologically by demyelination and accumulation of eosinophilic hyaline bodies (Rosenthal fibers) within astrocytes. Demonstration of Rosenthal fibers on histological examination is considered a prerequisite for a definitive diagnosis. However, the CT and MRI scans may be highly suggestive of the disorder.

Phenotype and genotype analyses of ornithine transcarbamylase deficiency in Taiwanese.

Background And Purpose: Ornithine transcarbamylase (OTC) deficiency is the most common inherited urea cycle disorder. It is an X-linked semidominant disease with variable severity affecting both males and females. The characteristics and course have not been assessed in Taiwanese.

Mutation spectrum in Taiwanese patients with phenylalanine hydroxylase deficiency and a founder effect for the R241C mutation.

The spectrum of phenylalanine hydroxylase (PAH) gene mutations was determined in 25 families of hyperphenylalaninemia identified by a neonatal screening program in Taiwan. The coding sequence and exon-flanking intron sequences of PAH gene were amplified and sequenced. Mutations were identified in forty-five of the 50 chromosomes.