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Shio-Jean Lin

Publications and source records attributed to Shio-Jean Lin.

At least 19 recordsLinked to original sources
PubMed2007

Chinese herbal medicines used in pregnancy: a population-based survey in Taiwan.

PURPOSE: To explore the use (prevalence and related factors) of Chinese herbal medicines used by pregnant women. METHODS: We used multistage stratified systematic sampling to recruit 2048 postpartum women from the Taiwan national birth register between November and December 2003. Subjects underwent a home interview 6 months after their deliveries. A structured questionnaire was successfully applied to 87% of the sampled population. RESULTS: At least one Chinese herbal medicine was used during pregnancy by 24.1% of the interviewed subjects. Pregnant women with threatened abortion appeared to use more Chinese herbal medicines than other pregnant women. CONCLUSION: Chinese herbal medicines are frequently used by pregnant women in Taiwan and are very frequently used by those with a threatened abortion.

Abortion, Threatened↗
PubMed2005

Prevalence of the FMR1 mutation in Taiwan assessed by large-scale screening of newborn boys and analysis of DXS548-FRAXAC1 haplotype.

If carrier women could be identified in time and take appropriate measures, fragile X syndrome (FXS) can be prevented. Wide screening of women to be or in their early pregnancy was considered a good approach to identify carriers without misdetection. Nevertheless, we argued against the cost-effectiveness of implementing such a screening program in Taiwan, due to the lower carrier rate found in our pilot study. To reliably estimate the prevalence of mutant FMR1 gene in Taiwan, we anonymously screened 10,046 newborn boys using bloodspot polymerase chain reaction (PCR). Among them, the sample from one boy, who was most likely had FXS, failed repeatedly in PCR amplification. The estimated prevalence of premutation (55-200 CGG repeats) and intermediate alleles (45-54 CGG repeats) was 1:1,674 (n = 6) and 1:143 (n = 70), respectively. All these estimates were constantly lower than that reported in Caucasian populations, with variable statistic significance. Furthermore, when comparing analyses of the distribution of alleles at the two most often investigated microsatellite loci, DXS548 and FRAXAC1, between 100 control and 28 unrelated fragile X chromosomes, we found no apparent founder haplotype prevalent among the fragile X patients. Because a few founder haplotypes were reportedly prevalent in two thirds of fragile X alleles in Caucasians and in Chinese from Central China, we thus suggested that lack of founder fragile X chromosomes might result in a relatively low prevalence of mutant FMR1 gene in a population, as observed in Taiwan.

Alleles↗
PubMed2005

Late-onset growth restriction in Galloway-Mowat syndrome: a case report.

Galloway-Mowat syndrome (GMS) is a rare autosomal recessive disorder and is characterized by marked intrauterine growth retardation, central nervous system anomalies, and early onset nephrotic syndrome. Of the reported cases in the literature, all were diagnosed postnatally. We describe a case of GMS in which only late-onset intrauterine growth restriction was detected by prenatal ultrasound. In her fourth pregnancy, the mother had delivered a male baby with clinical features of GMS who died at seven months of age due to early onset of nephrotic syndrome. In her fifth pregnancy, serial ultrasound examinations were normal during the first and second trimester of pregnancy. Growth restriction and microcephaly were not detectable until 28 to 32 weeks' gestation. At 40 weeks' gestation, a female baby was born with dysmorphic features of GMS. Nephrotic syndrome developed after birth and renal biopsy revealed minimal change nephrotic syndrome. The prenatal course of this case suggests GMS may not be diagnosed in early pregnancy and the only abnormality detected before birth was intrauterine growth restriction.

Abnormalities, Multiple↗
PubMed2005

Clinical suppression of precocious puberty with cetrorelix after failed treatment with GnRH agonist in a girl with gonadotrophin-independent precocious puberty.

This report presents the case of a 7-year-old girl with gonadotrophin-independent precocious puberty treated with cetrorelix [gonadotrophin-releasing hormone (GnRH) antagonist] after poor response to GnRH agonist therapy was observed in the endocrinology outpatient clinic. Uterine and ovarian morphology returned to within the normal prepubertal range after GnRH antagonist was injected subcutaneously. Vaginal bleeding stopped completely. The effects of GnRH antagonist treatment were comparable to those of GnRH agonist. The potential advantage of GnRH antagonists would be a clinically significant direct effect on the ovary, if it exists, and GnRH antagonists should be available for use in such children.

Child↗
PubMed2005

Hypophosphatasia in Taiwan: report of two cases.

Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity. It may be present in infancy, childhood, or adulthood. Various clinical manifestations reflect different forms of alkaline phosphatase gene expression. In this report, we present two cases of hypophosphatasia, one of the infantile and the other of the adult form. The infantile case presented with failure to thrive, hypotonia, and radiologic rickets at 4 months old. The adult case had repeated fractures and marked loss of bone density demonstrated by radiographs. Both cases showed extremely low levels of alkaline phosphatase. To the best of our knowledge, they are the first reported patients with hypophosphatasia from the Taiwanese population.

Adult↗
PubMed2005

Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus.

The association of hypophosphatemic rickets and epidermal nevus or giant hairy nevus is rare. We report two patients with hypophosphatemic rickets, one associated with epidermal nevus syndrome and the other with giant hairy nevus, and describe their clinical features and variable response to treatment. The abnormal nevus tissue may have contributed to the pathogenesis of hypophosphatemic rickets. We did not find a PHEX gene mutation in these two patients, and the mechanism for their rickets may be different from that in X-linked hypophosphatemic rickets.

Adult↗
PubMed2005

Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets.

Hypophosphatemic rickets is a genetic disorder commonly associated with renal phosphate wasting and bone deformities. The PHEX gene (phosphate regulating gene with homologies to endopeptidases on the X chromosome) encodes a 749-amino acid protein that putatively consists of an intracellular, transmembrane, and extracellular domain. PHEX mutations have been observed in 60-80% of hypophosphatemic rickets patients. In this study, we report 2 de novo novel mutations in 2 Taiwanese girls with clinical characteristics of hypophosphatemic rickets. The presenting phenotype of lower extremity deformities and short stature was suggestive of the diagnosis. Primers flanking 22 exons were used to amplify DNA by polymerase chain reaction. The results by direct DNA sequencing of case 1 revealed a C to T transition changing glutamine at codon 224 in exon 6 to a stop codon (Q224X). The result of case 2 showed a 2-base pair deletion (2090delGA) and resulted in a frameshift and premature termination of codon (PTC+19aa). Both mutations presumably result in a truncated protein, leading to loss of function of PHEX. This is the first report of PHEX gene mutation in the Taiwanese population.

Adolescent↗
PubMed2005

A 38.8 kb deletion mutation of the iduronate-2-sulfatase gene in a patient with Hunter syndrome.

Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder. A novel gross deletion in the iduronate-2-sulfatase (IDS) gene was found in a 6-year-old boy with Hunter syndrome. The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing loss. The 38.8 kb gross deletion involves exons 1-7, the proximal breakpoints lying in intron 7, at position 1307880 (GenBank NT:019686), and the distal deletion breakpoint was located at position 1346697. The large deletion correlated with the severe phenotype of this Hunter syndrome patient.

Child↗
PubMed2004

Cytogenetic surveillance of mentally-retarded school children in southern Taiwan.

BACKGROUND AND PURPOSE: Mental retardation (MR), defined as having an IQ of less than 70, is present in approximately 2 to 3% of the population. Data on chromosomal abnormalities, an important cause of MR, are limited in the Taiwanese literature. This study evaluated the frequency and pattern of chromosomal abnormalities in school children with MR in southern Taiwan. METHODS: Peripheral blood samples of 419 children were collected from November 1999 to January 2003. Those with Prader-Willi syndrome (PWS), Angelman syndrome (AS) or fragile-X syndrome were excluded from the study. Metaphase chromosome preparations were obtained from peripheral blood cultures, and trypsin-giemsa (GTG) banded chromosomes were examined at the level of 500 to 600 bands. Fluorescence in situ hybridization was done for cases whose karyotypes could not be determined by conventional cytogenetic analysis. RESULTS: Of the 419 enrollees with MR, 10 had mild MR, while most had moderate to profound MR. Chromosomal abnormalities were found in 22.43% of the cases, with trisomy 21 being the major chromosomal abnormality, occurring in 77 cases (18.38%, 77/419 cases). Sex chromosome aneuploidies were found in 3 cases (0.72%, 3/419 cases). Structural abnormalities of autosomes were found in 13 cases (3.10%, 13/419 cases), including deletion, markers, unbalanced translocations, and inversions. One subject was found to have monosomy 20 mosaicism (0.24%, 1/419). CONCLUSIONS: Chromosomal abnormalities occurred in a high proportion of mentally retarded school children from southern Taiwan, with trisomy 21 being the most prevalent. These findings indicate the need for increased attention to prenatal, perinatal and postnatal screening in this population.

Child↗
PubMed2004

Russell-Silver syndrome: molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping.

Russell-Silver syndrome (RSS) should be suspected in patients with prenatal and postnatal growth retardation. Because there is no clinical feature specific for RSS, molecular analysis is necessary to confirm the diagnosis. Recently, maternal uniparental disomy of chromosome 7 (mUPD7) has been reported in approximately 10% of RSS patients. We describe a 10-year-old Taiwanese RSS girl with prenatal and postnatal growth retardation, relative macrocephaly, a triangular face, frontal bossing, and mild fifth finger clinodactyly. Molecular diagnosis of mUPD7 was confirmed by use of methylation-specific polymerase chain reaction and haplotype analysis with single nucleotide polymorphisms (SNPs) genotyping. Analyzing the methylation status of the PEG1/MEST gene is a cost-effective screening method for mUPD7 molecular diagnosis. However, positive cases should be subsequently confirmed by haplotype analysis using SNPs genotyping or short tandem repeat markers.

Child↗
PubMed2003

Feasibility of blood spot PCR in large-scale screening of fragile X syndrome in southern Taiwan.

BACKGROUND AND PURPOSE: Fragile X syndrome (FXS) is the most common form of hereditary mental retardation. Early diagnosis of the disease may lead to better prognosis for children who participate in early intervention programs. This study attempted to evaluate whether screening newborn boys with simple polymerase chain reaction (PCR) assay could be an effective approach for detection of mutation carriers and FXS, a process that may also facilitate detection of young carrier mothers. METHODS: Filter paper blood spot samples of 4843 newborn boys were collected from five hospitals in southern Taiwan. They were tested with a simple non-radioactive PCR for the presence of FMR1 gene mutation by determining the number of FMR1 CGG repeats. By this method, the examined sample can be reliably classified as normal (<40), intermediate (40-54), and mutant group (> 54), according to the number of CGG repeats. RESULTS: The FMR1 CGC repeat number of all but four samples was below 54, with 90 samples (1.8%) between 40 and 54 (the intermediate range). Two of the four abnormal samples were carriers of the premutation. The other two failed repeatedly in PCR amplification for the FMR1 gene, but not for the control K-ras gene. Hence, these samples seemed to be candidate carriers of large premutation or even full mutation, indicating the need for confirmation with standard Southern blot analysis. CONCLUSIONS: This study demonstrated that a simple PCR combined with blood spot sampling is effective and feasible for large-scale screening of newborn boys for fragile X carrier status. The relatively low carrier rate in this population suggests that the cost-effectiveness of implementation of such screening on a population-wide basis would be lower than in the Jewish and Caucasian populations.

DNA↗
PubMed2003

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. 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.

Female↗
PubMed2002

Molecular quality control machinery contributes to the leukocyte NADPH oxidase deficiency in chronic granulomatous disease.

Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by defects in leukocyte NADPH oxidase. Various inherited defects in one of the membrane-bound components of NADPH oxidase, gp91-phox, cause X-linked (X91) CGD. Analysis of three patients with X91 CGD revealed that different mechanisms of molecular quality control lead to the common phenotype of absence of mature membrane-bound NADPH oxidase complex in leukocytes. In the first patient, aberrant intron splicing created a premature stop codon. However, the mutant mRNA was degraded prematurely, which prevented the production of truncated protein. In the second patient, a frameshift mutation with the potential to generate a gp91-phox polypeptide, with an aberrant and elongated C-terminus, led to barely detectable levels of gp91-phox, even though the reported functional domains of the protein appeared unaffected. In the third patient, a point mutation created a single amino acid change in the predicted FAD-binding site of gp91-phox. Although gp91-phox was detectable with Western blotting, no cytochrome b(558) was expressed on the cell surface. These analyses showed that molecular quality control machinery plays an important role in the pathogenesis of CGD, not only in the X910 but also in the X91- form of this X-linked disease.

Cell Membrane↗
PubMed2002

Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure.

Single-strand conformation polymorphism analysis of exon-containing genomic DNA segments of the deleted-in-azoospermia-like (DAZL) gene was performed in 160 infertile Taiwanese men presenting with severe oligozoospermia and nonobstructive azoospermia. An A-->G transition at nucleotide 386 in exon 3 was identified. The mutation is located within the RNA-recognition motif (aa 32-117) domain of the DAZL protein and will lead to Thr54-->Ala change (T54A) of DAZL protein. Analysis of cDNA from testicular tissue of infertile carriers showed absence of expression for the T54A allele, implying that the allele carrying T54A polymorphism is hardly, if ever, expressed. The frequencies of T54A allele in patients and the control group were 7.39% and 0.86%, respectively (P = 0.0003). The phenotypes varied significantly in cases with heterozygous T54A polymorphism, ranging from hypospermatogenesis and maturation arrest to Sertoli cell-only syndrome. A combination of DAZ gene deletion and T54A polymorphism did not worsen the phenotype. Our findings provide strong evidence for the role of the autosomal DAZL gene in human spermatogenesis.

Alleles↗
PubMed2002

Referral diagnosis of Prader-Willi syndrome and Angelman syndrome based on methylation-specific polymerase chain reaction.

BACKGROUND AND PURPOSE: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are associated with distinct phenotypes that include mental retardation. Both PWS and AS are caused by loss of function of genes located in chromosome 15q11-q13, an area subject to genomic imprinting. Methylation-specific polymerase chain reaction (M-PCR), based on parent of origin specific DNA methylation at the promoter region of the small nuclear ribonucleoprotein polypeptide N gene (SNRPN), can provide accurate and rapid diagnosis for nearly all PWS patients while it is less accurate for AS patients. We report the development of a referral system for molecular diagnosis of PWS and AS based on M-PCR. METHODS: Pediatric geneticists, psychiatrists, or neurologists were asked to evaluate phenotypes of patients with PWS or AS and complete a questionnaire designed according to the consensus criteria to diagnose these conditions. Molecular analysis based on M-PCR was performed for patients with a score of at least two. RESULTS: A total of 108 patients with suspected PWS and 20 patients with suspected AS were referred for diagnostic testing. PWS was diagnosed in 26 of these patients and AS in two. Among the major diagnostic criteria for PWS, excessive weight gain, developmental delay, and hyperphagia were more prevalent in older patients (> or = 1 yr) than in younger patients. Cerebral hypotonia and developmental delay were significantly more prevalent in older PWS patients than in non-PWS patients. CONCLUSION: M-PCR is a cost-effective method for the diagnosis of PWS and AS. The limitations of current scoring systems and the low cost of M-PCR suggest that routine molecular screening is justified for patients suspected of having PWS.

Adolescent↗
PubMedDate not supplied

Newborn screening: should explicit parental consent be required?

Newborn screening, the first population-based metabolic screening program has been universally conducted for several decades. With the advent of genetic technologies, many genetic/metabolic disorders can be detected pre-symptomatically but might be untreatable. Since the benefits and risks of screening tests on newborns are not fully known, newborn screening programs confront both legal and ethical challenges. This article aims to explore the following questions: (1) Is explicit parental consent required? (2) What level of consent should be sought? and (3) Is screening in the absence of explicit consent legally defensible? This article considers: (1) the introduction of newborn screening, (2) the conditions under which it is conducted (voluntary vs. mandatory), (3) the argument over whether explicit parental consent is required, (4) the conditions under which implied consent may be assumed, and (5) the principles of informing parents. This article concludes that implied consent is not acceptable except for traditional routine screening. Healthcare professionals should provide information about the known benefits and risks of testing and recognize the parental right of refusal. Finally, since the absence of explicit parental consent to newborn screening is not legally defensible, children's advocates should lobby for legislation permitting it in the absence of explicit consent in specific circumstances.

Humans↗