RESUMEN

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. In addition, physicians adopt a higher percentage of bald-on-record and negative politeness strategies than patients. In contrast, patients' parents use more positive politeness and off-record strategies. These results indicate that while physicians display lower levels of politeness and often communicate directly, patients' parents express more supportive opinions and adopt more indirect communication strategies. The results reveal a preference for efficiency in pediatric clinics, with physicians adopting a dominant role in the communication process. These results also demonstrate an inherently asymmetric power balance between physician and patient. Our findings indicate the presence of several commonly seen politeness strategies and dialogue patterns that encourage greater self-awareness and self-observation for physicians and patients, leading to more effective communication in the clinical context. Finally, also discussed are the possible influences of Chinese culture such as face work, harmony, and power.

Asunto(s)

RESUMEN

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. Liver function profiles were analyzed and compared with data on neonatal hepatitis and biliary atresia. RESULTS: Chubby face was observed in early infancy in all 5 patients whose serial photographs were taken. A significant difference in the Chubby Index was seen between NICCD infants and healthy infants (1.331 +/- 0.07 vs 1.068 +/- 0.059; P < 0.05). NICCD is characterized by an aspartate aminotransferase-to-alanine aminotransferase ratio of 2 or greater, a direct bilirubin-to-total bilirubin ratio under 0.67, and a standard deviation score for alpha-fetoprotein of 4 or greater, with respect to neonatal hepatitis and biliary atresia. Although chubby face, abnormal liver function profiles, and multiple amino acidemia gradually disappeared after age 1 year, an increase in hepatic echogenicity was observed in most patients in long-term follow-up. CONCLUSIONS: Our Chubby Index is an informative measurement of the facial characteristics of infants with NICCD. The chubby face features, along with an aspartate aminotransferase-to-alanine aminotransferase ratio of 2 or greater, a direct bilirubin-to-total bilirubin ratio under 0.67, and a standard deviation score for alpha-fetoprotein of 4 or greater, may serve as useful clinical indicators for diagnosing NICCD early in infancy.

Asunto(s)

RESUMEN

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. METHODS: Dry blood spots were obtained at about 3 days of age from 357,307 newborns and tested for elevation of glutaryl (C5DC)-carnitine by tandem mass spectroscopy. A second sample of blood spots was required from those cases with abnormal elevation of C5DC-carnitine (higher than the cut-off value) (recall). If the results remained abnormal, those cases were referred for confirmation of the diagnosis and treatment. RESULTS: Between August 2001 and February 2005, there were 40 cases with C5DC-carnitine more than 0.13 microM (the cut-off value), from whom a second sample of blood spots was obtained (recall rate, 0.02%); two cases were confirmed to be affected by GA1. Because of the low positive prediction rate using this cut-off value, we elevated the cut-off value slightly. Between February 2005 and August 2006, there were eight cases with C5DC-carnitine more than 0.22 microM from whom a second sample of blood spots was obtained (recall rate, 0.01%); three cases were confirmed to be affected by GA1. All five cases with persistent elevation of C5DC-carnitine were referred and diagnosis was confirmed in each, giving an incidence of 1 in 71,461 newborns. There were no false negatives. Magnetic resonance imaging studies obtained from four cases showed frontotemporal atrophy at the time of diagnosis. Two cases were followed for over 1 year, and under treatment with dietary control and carnitine supplementation, both had normal development and neither exhibited a frank episode of encephalopathic crisis. CONCLUSION: With properly established cut-offs, GA1 can be successfully screened for in populations with a low incidence of the disease. Early treatment is likely to improve the outcome of cases discovered by screening.

Asunto(s)

RESUMEN

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. School teachers or nurses administered the questionnaires and took pictures of the faces and hands for of the patients. After viewing of the questionnaire and photos by a geneticist, 145 cases were selected for molecular study and 11 cases were identified as having full mutations in the FMRI gene. The detection rate was 1.5% (11 in 734) in all enrolled cases, and was 7.6% (11 in 145) in those who underwent molecular test. Those affected by FXS were more likely to have simian crease (p<0.001) and a head circumference larger than the 50th percentile (p=0.0295), and those who were not affected by FXS were lower in gestational age (p=0.0243). This screening method is useful for the detection of fragile X syndrome.

Asunto(s)

RESUMEN

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. We describe a patient who presented with subtle seizures at the age of 4 months. On examination, he was floppy with evident head lag. There was no visual following or social smiling. At that time, the brain MRI showed abnormal findings, with more white matter involvement and a characteristic periventricular rim. A diagnosis of Alexander disease was not made until he was one year old, when a repeated MRI showed the full-blown pictures typically seen in Alexander disease. The images fulfilled the diagnostic criteria proposed by van der Knaap in 2001. The early brain MRI findings in Alexander disease can be very characteristic and greatly different from those in the late stage.

Asunto(s)

RESUMEN

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. R241C was the most common mutation (36% of the chromosomes), followed by R408Q (14% of the chromosomes). The remaining mutations were rare and seven mutations have not been reported before: p.F233L (c.697T>C), p.R252Q (c.756G>A), p.E286K (c.856G>A), p.G312V (c.935G>T), p.P314T (c.940C>A), p.I95del (c.284_286delTCA), and p.T81fsX6 (c.241_256del). Both p.R241C and p.R408Q are classified as mild phenylketonuria (PKU) or mild hyperphenylalaninemia (MHP) mutation, which may explain the fact that classical PKU is very rare in Taiwan (n=4, or one in 413,035). This strong founder effect for the p.R241C mutation has been described neither in the Caucasian populations, nor in other reports from Chinese. Since most of the populations in Taiwan are derived from Southeastern China, the spectrum of PAH gene mutations in Southeastern China should be different from other Chinese populations. This report not only disclose a specific spectrum of PAH gene mutation in Taiwan, but may also give clues to the movement of populations in Mainland China.

Asunto(s)

Asunto(s)

Asunto(s)

RESUMEN

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. This study analyzed the phenotype and genotype of OTC deficiency in Taiwanese. METHODS: During the period from January 1993 to December 2001 inclusive, 8 patients had the diagnosis of OTC deficiency by the criteria of hyperammonemia, hypocitrullinemia, and orotic aciduria. All 10 exons of the OTC gene were analyzed for mutations. RESULTS: Among the 8 cases, 3 belonged to the early-onset group (initial symptoms before or equal to age 28 days) and 5 belonged to the late-onset group (median onset age, 18 months; range, 8 months to 52 years). One case in the former group, and 4 cases in the latter group survived (mean survival, 8.2 years; range, 3 to 16 years). The average time between initial symptoms and diagnosis was 60 months in the late-onset group. Analysis of the OTC genes detected 5 different mutations in 5 patients, including 3 novel mutations: 42delT, 652G>A, and 791C>A. IQ tests, conducted in 3 patients, revealed low scores (mean, 53; range, 40 to 72). CONCLUSIONS: Both early-onset and late-onset cases of OTC deficiency were identified in Taiwanese. The diagnosis was delayed in these patients, and their outcomes were poor. All mutations detected were different and most of them have not been reported in other populations, which may explain the variability of phenotypes in Taiwanese patients.

Asunto(s)