Shio Jean Lin

Clinical Spectrum of Enterovirus 71 Infection in Children in Southern Taiwan, with an Emphasis on Neurological Complications

An outbreak of enterovirus 71 (EV71) infection occurred in Taiwan in 1998. The clinical spectrums and laboratory findings for 97 patients with virus culture-proven EV71 infections were analyzed. Eighty-seven percent of the patients were younger than age 5 years. Hand-foot-and-mouth syndrome occurred in 79% of the children and central nervous system (CNS) involvement in 35%, including nine fatal cases. The predominant neurological presentations were myoclonus (68%), vomiting (53%), and ataxia (35%). Brain stem encephalitis was the cardinal feature of EV71 CNS involvement during this outbreak. Magnetic resonance imaging and pathological findings illustrated that the midbrain, pons, and medulla were the target areas. EV71 brain stem encephalitis can present either with cerebellar signs and an initially mild, reversible course or with overwhelming neurogenic shock and neurogenic pulmonary edema (NPE) resulting in a fatal outcome. Brain stem encephalitis that progressed abruptly to neurogenic shock and NPE was indicative of poor prognosis in this epidemic. Early aggressive treatment and close monitoring of the neurological signs are mandatory to improve the chance of survival.

Incidence of the Mucopolysaccharidoses in Taiwan, 1984-2004

Previous studies on the incidence of the various types of mucopolysaccharidoses (MPS) in different populations have shown considerable variation. However, information regarding the incidence of MPS in the Asian population is lacking. An epidemiological study of the MPS disorders in Taiwan using multiple ascertainment sources was undertaken, and incidences of different types of MPS during the period of 1984–2004 were estimated. We compared our data with previous reports in different populations. The combined birth incidence for all MPS cases was 2.04 per 100,000 live births. MPS II (Hunter syndrome) had the highest calculated birth incidence of 1.07 per 100,000 live births (2.05 per 100,000 male live births), comprising 52% of all MPS cases diagnosed. The birth incidences of MPS I (Hurler syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), and VI (Maroteaux‐Lamy syndrome) were 0.11, 0.39, 0.33, and 0.14 per 100,000 live births, respectively, which accounted for 6%, 19%, 16%, and 7% of all MPS, respectively. No cases of MPS III D (Sanfilippo syndrome type D), MPS IV B (Morquio syndrome type B), MPS VII (Sly syndrome) or MPS IX were ascertained during the study period. Overall incidence of MPS in Taiwan was consistent with that reported in Western populations. However, in contrast to the higher incidence of MPS I in most Western populations, this study showed a higher incidence of MPS II in Taiwan. It remains to be investigated whether this discrepancy is attributed to the under‐diagnosis of MPS I in Taiwan or to ethnic differences.

Phthalate exposure in girls during early puberty

The aim of this study was to determine the levels of phthalate ester metabolites in girls in early puberty, and the associated environmental factors for phthalate exposure. A case-control study was conducted in which we recruited girls in early puberty, including 30 girls with premature thelarche (PT) and 26 with central precocious puberty (CPP), and 33 normal controls. The mean urine levels of monomethyl phthalate (MMP) were significantly higher in the PT group (96.5 +/- 134.0 ng/ml) than in the control group (26.4 +/- 30.0 ng/ml; p = 0.005). The levels of monobutyl phthalate (MBuP) correlated with the intake of seafood, drink and the use of plastic cups. The levels of mono-(2-ethylhexyl) phthalate (MEHP) correlated with the intake of seafood and meat and exposure plastic handi-wrap. Significantly higher MMP in the PT girls revealed that phthalate may be one of the environmental causes of early puberty in Taiwanese girls.

Maternal return to work and breastfeeding: A population-based cohort study

BACKGROUND In recent decades there has been a marked rise in the participation of women with infants in the labour market, while there has been a decline in the prevalence rate of breastfeeding. OBJECTIVE To explore the relationship between maternal return to work and breastfeeding. DESIGN An on-going prospective longitudinal study. SETTING AND PARTICIPANTS Multistage stratified systematic sampling was designed to recruit 24,200 pairs, postpartum women and newborns, from the Taiwan national birth register in 2005. Participating women underwent two home interviews at 6 and 18 months after giving birth, following structured questionnaires. A total of 21,248 and 20,172 women were interviewed, and the completed interview rate was thus 87.8% and 83.4% at 6 and 18 months, respectively. All study participants provided informed consent as approved by the Ethics Review Board of the National Taiwan College of Public Health. RESULTS The overall prevalence of initial breastfeeding was 83.7%. Postpartum women returning to work less than or equal to 1 month had the lowest initiation of breastfeeding rate (77.5%), but had a higher prevalence of breastfeeding duration less than or equal to 1 month (34.9%) than the overall population (26.8%). Overall 67.9%, 39.4%, 25.4%, and 12.7% mothers who started breastfeeding still breastfed their infants at the age of 1, 3, 6 and 12 months, respectively. Women with maternal leave of less than or equal to 6 months ceased breastfeeding earlier than those with maternal leave beyond 6 months and those who did not return to work up to 18 months after birth. After adjustment for potential confounders, odds ratios of initial breastfeeding seemed no different, except those for postpartum women who returned to work less than or equal to 1 month and those who did not return to work. Mothers returning to work within 1 year after giving birth were significantly earlier in weaning than those without return to work. CONCLUSION In our study, an early maternal return to work, especial within 6 months after giving birth, was a barrier to the initiation and continuation of breastfeeding. Thus, a comprehensive strategy is required to encourage the practice of breastfeeding in working women from pregnancy to the return to work, and nurses should work to promote breastfeeding in the different occasion.

Infant feeding practices and physician diagnosed atopic dermatitis: a prospective cohort study in Taiwan

To cite this article: Chuang C‐H, Hsieh W‐S, Chen Y‐C, Chang P‐J, Hurng B‐S, Lin S‐J, Chen P‐C. Infant feeding practices and physician diagnosed atopic dermatitis: a prospective cohort study in Taiwan. Pediatric Allergy Immunology 2011: 22: 43–49.

Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan.

Objective – To identify various subtypes of spinocerebellar ataxias (SCAs) among autosomal dominant cerebellar ataxia (ADCA) patients referred to our research center, SCA1, SCA2, SCA3/MJD (Machado–Joseph disease), SCA6, SCA7, SCA8 and SCA12 loci were assessed for expansion of trinucleotide repeats.

Phthalates may promote female puberty by increasing kisspeptin activity

STUDY QUESTION Is there an association between exposure to phthalates and the timing of female puberty? SUMMARY ANSWER Our study suggests that the early onset of puberty is related to increased kisspeptin secretion. WHAT IS KNOWN ALREADY Girls are maturing earlier than in past decades and the quantity of phthalates used in consumer products has concurrently risen. The hypothesis that exposure to phthalates may increase kisspeptin secretion and thereby cause early-onset puberty is unexplored. STUDY DESIGN, SIZE, DURATION This case-control study ran from 2006 to 2009. We enrolled 104 girls. Girls in the central precocious puberty (CPP) (case) group were recruited from a pediatric endocrinology policlinic in Taiwan; prepubescent controls were recruited from local elementary schools and all were categorized based on a pediatricians diagnosis. PARTICIPANTS/MATERIALS, SETTING, METHODS The physical characteristics of puberty were assessed and levels of LH, FSH estradiol and kisspeptin-54 in blood samples were evaluated using radioimmunoassay. Reversed-phase high-performance liquid chromatography-tandem mass spectrometry was used to analyze seven urinary phthalate metabolites. Non-parametric analyses, trend tests and linear regressions were performed on the data. MAIN RESULTS AND THE ROLE OF CHANCE All seven urinary phthalate metabolites in the CPP group were significantly (P < 0.05) higher than in prepubescent controls. Serum kisspeptin-54 levels were higher (P = 0.022) in the CPP group than controls and were still significantly higher after adjusting for age (P = 0.03). There was a significant increasing trend (P(trend) = 0.005) between levels of kisspeptin and the stages of puberty. The concentration of kisspeptin-54 did not change in girls treated with leuprorelin acetate. There was a significant positive correlation between kisspeptin-54 and urinary mono-n-butyl phthalate (ng/ml: R(2) = 0.251, P < 0.001; μg/g-creatinine: R(2) = 0.109, P = 0.024). LIMITATIONS, REASONS FOR CAUTION The study duration was short and the sample size relatively small; therefore, we were unable to collect sufficient evidence to support the temporality between exposure to phthalates and the subsequent occurrence of PP. WIDER IMPLICATIONS OF THE FINDINGS Kisspeptin may promote the onset of puberty in girls who are exposed to a high level of phthalates, especially di-n-butyl phthalate. These data suggest that developing a kisspeptin antagonist might be an alternative strategy for treating PP. STUDY FUNDING/COMPETING INTEREST(S) This work was supported by grants NSC 96-2621-Z-006-013 and NSC 97-2621-M-006-001 from the Taiwan National Science Council. The authors have no conflicts of interest to disclose.

Gender differences of children's developmental trajectory from 6 to 60 months in the Taiwan Birth Cohort Pilot Study

The parental report instrument is the most efficient developmental detection method and has shown high validity with professional assessment instruments. The reliability and validity of the Taiwan Birth Cohort Study (TBCS) 6-, 18- and 36-month scales have already been established. In this study, the reliability and validity of the 60-month scale was tested. The gender differences in childrens longitudinal gross motor, fine motor, language and social development were also investigated. Using the dataset from the Taiwan Birth Cohort Pilot Study (TBCS-p), 2048 infants were followed up when they were 6-, 18-, 36- and 60-month-old. At the final stage, 1620 children were followed up. Development of the children was measured using the TBCS 6-, 18-, 36-, and 60-month developmental scales. The reconstructed TBCS 60-month scale yielded 16 items measuring childrens development in the four dimensions of gross motor, fine motor, language and social. The scale yielded an internal consistency of 0.39-0.71. Structural equation modeling also showed good construct and predictive validity, in that the 6-, 18-, and 36-month scales were predictive of the 60-month scale. No gender differences between the gross motor dimension was found. Gender had an effect on the fine motor dimension at 36 and 60 months, language dimension at 36 months, and social dimension at 18, 36 and 60 months. Gender had a transient effect in language development and social development a continuous effect from 18 to 60 months. Thus different gender norms may need to be established to prevent misdiagnosis. The TBCS scale is a valid and reliable developmental screening instrument that can be used in continuous surveillance of childrens development in community and clinical settings from 6 months to 5 years of age.

Efficient developmental screening instrument for 6-and 18-month-old children in the Taiwan Birth Cohort Pilot Study

Aim: To develop an efficient developmental screening instrument for interview purposes.

Deletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency

Gross gene deletions have been reported in 20% of alleles in patients with congenital adrenal hyperplasia (CAH) involving a 21-hydroxylase deficiency (1). This type of deletion occurs in the RCCX module, including the CYP21P , tenascin A ( TNXA ), RP2 , C4B , CYP21 , and tenascin B ( TNXB ) genes, as evidenced by a 30-kb deletion identified by pulse-field electrophoresis (2). Inactivation of the CYP21 gene may also occur through intergenic recombination with transfer of deleterious mutations from the neighboring CYP21P pseudogene. The frequency of gene deletions or conversions in CAH is controversial (3)(4)(5) and is dependent on the population studied. Evidence for gene deletions and/or conversions is traditionally obtained by Southern blot analysis. Multiple probes and separate restriction endonuclease digestions are used. Taq I generates 3.7-kb (functional) and 3.2-kb (pseudogene) fragments, and Bgl II produces 11-kb (functional) and 12-kb (pseudogene) fragments. These analyses have been used since 1984 (1)(3)(5)(6)(7)(8)(9). However, the method is indirect and time-consuming, and densitometry of fragments can be prone to error. To identify the interchange region and improve detection of gene deletions and conversions in the RCCX module (10)(11)(12)(13), we have developed a novel Southern blot analysis that uses two restriction endonucleases, Ase I and Nde I, and requires only one probe. In addition, we use a PCR product amplified with locus-specific primers covering the TNXB gene to the 5′ end of CYP21P or CYP21 to directly analyze the 3.2/3.7-kb Taq I fragment and the status of the CYP21 gene. For the novel Southern blot analysis, 10 μg of genomic DNA was digested with the restriction endonucleases Ase I and Nde I, resolved on a 0.65% agarose gel, blotted on a Hybond-N+ membrane …