This study examines (1) associations between four types of family and peer victimization and chil... more This study examines (1) associations between four types of family and peer victimization and child internet addiction and (2) the mediating effects of psychological symptoms on these associations. Data were collected from a national proportionately-stratified random sample of 6,233 fourth-grade primary school students in Taiwan in 2014. Bivariate correlations and sets of multiple regression analyses were conducted to examine the direct effects of multi dimensional victimization on child internet addiction and the indirect effects through psychological symptoms. The results reveal that being male and experiencing victimization (psychological neglect, physical neglect, witnessing domestic violence, and bully victimization) are associated with an increased risk of developing psychological symptoms and internet addiction among children. Moreover, we found that psychological symptoms partially mediate the associations between multidimensional victimization and child internet addiction, with the exception of physical neglect. In conclusion, this study demonstrates (1) the direct and indirect effects of multidimensional victimization on the psychological symptoms and child internet addiction, and (2) the importance of early family-and school-based prevention and intervention in addressing related public health concerns of multidimensional victimization and child internet addiction.
Journal of the Formosan Medical Association = Taiwan yi zhi, 2007
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive diso... more Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. We intended to determine the distribution of DMD gene deletions and duplications in local Taiwanese male patients and potential female carriers. A total of 102 unrelated subjects, including 89 unrelated DMD/BMD male patients and another 13 unrelated potential female carriers, were recruited for this study. Multiplex ligation-dependent probe amplification (MLPA) was employed to detect DMD gene deletions and duplications in the 102 subjects. MLPA was informative in 60.7% (54/89) of these patients, identifying deletions in 36.0% (32/89) and duplications in 24.7% (22/89) of these patients. This assay revealed deletions in 30.8% (4/13) and duplications in 30.8% (4/13) of the 13 potential carriers. Deletions and duplications were detected in 35.3% (36/102) and 25.5% (26/102) of a total of 102 affected families, respectively in this series. The "h...
Journal of the Formosan Medical Association = Taiwan yi zhi, 2004
Cell-free fetal DNA in maternal blood is a promising non-invasive alternative for prenatal diagno... more Cell-free fetal DNA in maternal blood is a promising non-invasive alternative for prenatal diagnosis. The goal of this study was to determine fetal sex with maternal plasma in pregnant women without previous male offspring. Blood samples (3 mL) were collected at 6 to 16 weeks' gestation from 56 healthy pregnant women without previous male offspring. There were 23 pregnancies with male fetuses and 33 pregnancies with female fetuses. DNA was extracted from plasma and qualitative analysis of the sex-determining region Y (SRY) gene sequence on the Y chromosome (SRY-3317T) with dual-labeled fluorescent TaqMan probe using real-time quantitative polymerase chain reaction (PCR) was performed. In the 56 successfully assayed samples, SRY-positive signals were detected in 20 samples of the 23 pregnancies with male fetuses. None of the 33 successfully assayed samples from women bearing female fetuses yielded a positive signal. Because of its high correct prediction rate, fetal gender determ...
To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and mol... more To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization revealed the existence of a Y centromere on the marker chromosome. Analysis with six pairs of short tandem repeat markers showed that the genomic DNA extracted from the uncultured amniotic fluid cells contained a deletion of Yq11.1-Yq11.2. Spermatogenesis loci of the Y chromosome were studied using four sets of multiplex PCR. The proximal two markers DYS271 and KALY were present and the other 16 distal markers were deleted. No deletion was noted in the Y chromosome of the father. Cytogenetic and molecular analyses revealed deletions of AZFb, d, and c regions on Yq11.2-Yqter in the fetal Y chromosome. Postmortem examination of the fetus showed a grossly normal male fetus with normal external genitali...
Genetics in medicine : official journal of the American College of Medical Genetics
To determine the mutation spectrum of the connexin 26 gene among 324 Taiwanese patients with prel... more To determine the mutation spectrum of the connexin 26 gene among 324 Taiwanese patients with prelingual deafness and the carrier rate of gene mutation in another 432 unrelated control subjects. The coding region of the connexin 26 gene was sequenced in both directions to detect mutation in all 756 samples. Among the 756 samples tested, 21 connexin 26 variants were detected, including 7 novel ones. The 235delC mutation was the most common, accounting for 57.6% of the mutant alleles. Among patients, 48 (14.8%) had connexin 26 gene mutations. In the control group, the carrier rate of connexin 26 mutation was estimated at 2.8%. The mutation spectrum of the connexin 26 gene is wide, with more than half of the patients having only one mutation detected. Thus, further efforts are needed to look for possible existence of a second mutant allele.
Study results of variations in the X chromosome are useful tools in researching the genetic diver... more Study results of variations in the X chromosome are useful tools in researching the genetic diversity of human populations and individual identification. We developed a 13 X chromosomal short tandem repeat (STR) multiplex system (DXS6807, DXS8378, DSX9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7424, DXS101, GATA172D05, HPRTB, DXS8377, DXS7423) amplified in one single polymerase chain reaction. DNA samples of 113 male and 108 female Taiwanese Han subjects were successfully analyzed using this 13 X-STR multiplex system. The distributions of allele frequencies were examined for independence. DXS8377, DXS101, DXS6789, and DXS6809 were found to be the most polymorphic markers in this study. High values of discrimination power and mean exclusion chance without significant evidence of association between these markers were obtained. In conclusion, this 13 X chromosomal STR multiplex system offers considerable forensic efficiency and may be useful in forensic identification casework.
The analysis of Y-chromosome short tandem repeat (Y-STR) loci is a powerful tool in forensic case... more The analysis of Y-chromosome short tandem repeat (Y-STR) loci is a powerful tool in forensic casework. The aim of this study was to present the 17 Y-STR loci haplotype distributions of groups of population living in Taiwan and to demonstrate genetic distances between the groups as well as multidimensional scaling plot based on Y-STR genotype data. Five hundred and fifteen DNA samples from unrelated males of seven groups of population, including Taiwanese Han, two groups of indigenous Taiwanese of Taiwan Island, Tao, mainland Chinese, Filipinos, and a group of people with European, Near Eastern, or South Asian ancestry, were analyzed using a commercial kit that co-amplifies 17 Y-STRs. A total of 471 different haplotypes with 440 unique haplotypes were identified. The overall haplotype diversity was 0.9995 +/- 0.0002. High haplotype diversity was observed in six groups of population, except the Tao. These Y-STRs revealed a low discrimination capacity in the Tao population (36.84%), wh...
Respect for patients' autonomy is a princ... more Respect for patients' autonomy is a principle issue in medical ethics. Patients' understanding of antenatal serum screening for Down syndrome upon informed consent has barely been assessed. Our objective was to evaluate pregnant women's perceived level of understanding of this serum screening. Pregnant women between the 15(th) and 21(st) gestational week were randomized into control and experimental groups, and were asked to complete a questionnaire before and after genetic counselling provided by researchers. The primary endpoints were the perceived level of understanding of serum screening for Down syndrome and the autonomy of the decision making for this serum screening. The secondary endpoints were the anxiety and depression levels of these women. Participants in the experimental group (n = 96) had a significantly higher perceived level of understanding of antenatal serum screening for Down syndrome than participants in the control group (n = 97). There were significantly more respondents in the experimental group making the decision themselves to undergo serum screening than women in the control group. Anxiety and depression levels were not significantly different between the women in the two groups. Pregnant women should be offered more information to allow them to make an informed decision before they undergo antenatal serum screening for Down syndrome. Comprehensive genetic counseling improved pregnant women's autonomy in deciding whether to participate in serum screening. Health service providers should make effort to fulfill the ethical requirements of informed consent.
Objective: Sexual assault is a form of interpersonal violence with significant consequential heal... more Objective: Sexual assault is a form of interpersonal violence with significant consequential health problems. The purpose of this study was to describe the characteristics of the victims, assaults, and associated physical and psychologic trauma of sexual assault cases in Taipei. Materials and Methods: Data were retrospectively collected from the medical records of sexual assault victims who visited the emergency department of a medical center in Taipei from 1991 to 2003. The characteristics of the victims, assaults, and factors associated with general body and genital trauma were analyzed. Results: There were 114 sexual assault victims, including 107 females and seven males, aged from 3 to 49 years (mean, 17.9 years). Overall, 72.3% of victims had evidence of physical trauma. Genital/anal injuries (53.3%) occurred more often than general body trauma (41.0%). The presence of general body injuries was positively associated with physical examination within 72 hours, and negatively associated with a victim age younger than 18 years. Genital/anal lesions were significantly more common in victims without prior sexual intercourse.
Analysis of human mitochondrial DNA (mtDNA) polymorphisms in the D-loop region has become a usefu... more Analysis of human mitochondrial DNA (mtDNA) polymorphisms in the D-loop region has become a useful tool in forensic casework and matrilineal origin research. In this study, the mtDNA D-loop region including hypervariable region 1 (HV1), hypervariable region 2 (HV2), segment between HV1 and HV2 (7S DNA spanned region), and extended hypervariable region 3 (HV3ex) was sequenced in 539 unrelated individuals
In order to evaluate the association between placental thickness (Pr) and fetal homozygous alpha-... more In order to evaluate the association between placental thickness (Pr) and fetal homozygous alpha-thalassaemia 1 before the appearance of classic ultrasound findings of haemoglobin (Hb) Bart's hydrops fetalis, a total of 473 pregnancies were collected. The control group included 422 normal pregnancies with a gestational age from 14 to 23 weeks and the study group included 51 affected fetuses in the same gestational period. Fetal biparietal diameter (BPD) and PT were measured by high-resolution ultrasound. F T was evaluated against BPD. In the control group, the PT generally increased in parallel with the advancement of gestational age. All I T measurements in the study group were above the mean Pr of their respective gestational week in the control group. Forty-six (90 per cent) of the pregnancies in the study group had PT larger than the mean plus two standard deviations of the control group. This study suggests that ultrasound measurement of PT may be a useful aid in the prenatal diagnosis of Hb Bart's hydrops fetalis before its classic findings become apparent in the late second trimester or third trimester. KEY woms-Hb Bart's hydrops fetalis, homozygous alpha-thalassaemia 1, placental thickness, prenatal diagnosis, ultrasound.
The polymerase chain reaction (PCR) is a quite sensitive diagnostic tool but its specificity may ... more The polymerase chain reaction (PCR) is a quite sensitive diagnostic tool but its specificity may be hampered because of contamination of foreign DNA. In order to determine the diagnostic accuracy of PCR in diseases due to gross gene deletion, a total of 180 fetuses at risk of homozygous South-East Asian deletion (SEA) of alpha-globin genes were included for study. Both PCR and Southern hybridization (SH) were performed. By PCR, three of 43 affected fetuses were misdiagnosed as heterozygotes; four of 50 normal fetuses were misdiagnosed as heterozygotes; and four of 87 heterozygotes were misdiagnosed, two as normal and two as affected. Misdiagnosis in affected and normal fetuses was most likely due to maternal DNA contamination, while misdiagnosis in heterozygotes was probably due to a failed PCR. In the experiments with PCR in which we added DNA from a carrier woman to an affected or a normal fetus, a level of 1/64 and 1/16 contamination resulted in the appearance of normal and SEA breakpoint sequences, respectively. In the SH experiments using artificially contaminated DNA, a level of 1/4 contamination showed the normal and SEA bands, respectively, while a contamination level lower than 1/8 and 1/16 respectively did not reveal contamination bands. The high sensitivity of PCR makes it easier to amplify contaminated DNA. For accurate prenatal diagnosis, PCR should be performed very carefully and SH seems to be a useful back-up.
Neuromodulation: Technology at the Neural Interface, 2009
Objectives. Dysmenorrhea is a disturbing problem among women of childbearing age. The purpose of ... more Objectives. Dysmenorrhea is a disturbing problem among women of childbearing age. The purpose of this study is to investigate the effect of high-frequency transcutaneous electrical nerve stimulation (TENS) on primary dysmenorrhea and to compare the placebo effect by sham TENS in a randomized controlled study. Materials and Methods. Twenty-two women participated in the two-month experiment by using TENS or sham TENS in a random order for their dysmenorrhea. Outcome measures included self-reported pain intensity, symptom and function questionnaire related to dysmenorrhea, quality of life, satisfaction after TENS application, and other pain management agents adapted by the participants. Two-way repeated measures analysis of variance (two-way ANOVA) was conducted to compare pain intensity between pre-post values and groups (TENS vs. placebo). One-way repeated measures analysis of variance (one-way ANOVA) was conducted to compare scores from questionnaire of symptoms and quality of life at baseline, and after placebo or TENS stimulation. Results. Pain intensity in TENS is significantly decreased than in the placebo group (p = 0.018). The decrease of pain intensity after TENS and placebo TENS were both significant, with p < 0.00005 and p < 0.00005 respectively. Furthermore, TENS significantly changed the degree of autonomic symptoms (p = 0.048); but not after placebo TENS. Conclusion. This result supports that women in our country who suffer from primary dysmenorrhea could benefit by using TENS, which is consistent with the previous studies. In addition to pain-relieving effects, relief of the autonomic symptoms associated with dysmenorrhea also indicated that the mechanism of TENS might be different from the placebo effect of the sham TENS stimulation. These findings indicate the immediate effects of TENS in women with primary dysmenorrheal.
Human osteoclast formation from mononuclear phagocyte precursors involves interactions between tu... more Human osteoclast formation from mononuclear phagocyte precursors involves interactions between tumor necrosis factor (TNF) ligand superfamily members and their receptors. Many of the proinflammatory cytokines and growth factors implicated in inflammatory processes have also been demonstrated to impact osteoclast differentiation and function. Recent evidence indicates that the TNF-related apoptosis-inducing ligand (TRAIL) of the TNF ligand superfamily, which was initially thought to induce apoptosis in many transformed cell lines, can serve as an effector molecule in activated T cells. We show in this work that TRAIL can induce osteoclast formation from human monocytes and murine RAW264.7 macrophages. We demonstrated that both cell models differentiate into osteoclast-like cells in the presence of TRAIL in a dose-dependent manner, as evaluated in terms of tartrate-resistant acid phosphatase (TRAP)-positive multinucleated cells and bone resorption activity. The TRAIL-induced osteoclast differentiation is independent of caspase activation and apoptosis induction activity. However, TRAIL-induced osteoclastogenesis is dependent on activation of NF-kappaB, ERK, and p38 MAP kinase. Thus, our data demonstrate that TRAIL induces osteoclast differentiation via direct engagement with the TRAIL death receptor through a signaling pathway distinct from apoptosis. Our results indicate that in addition to triggering apoptosis, TRAIL induces osteoclast differentiation. It provides a novel role for TRAIL in regulating osteoclast differentiation and in osteoimmunology.
The presence of gonadotropin-releasing hormone (GnRH) binding sites in biopsy samples of human ep... more The presence of gonadotropin-releasing hormone (GnRH) binding sites in biopsy samples of human epithelial ovarian cancer and ovarian tumor cell lines as well as the demonstration of the inhibitory effects of GnRH analogues on the growth of these cells raised the possibility that GnRH is produced locally by ovarian cancer cells. In order to investigate an autocrine/paracrine regulatory mechanism in human carcinomas, we have studied the expression of GnRH and GnRHR mRNA in human ovarian epithelial cell lines (OVCAR-3 and SKOV3), human choriocarcinoma cell line (JBG-3) and human hepatocarcinoma cell line (HepG 2). Using primers corresponding to published human GnRH and GnRHR cDNA sequences, predicted PCR products were obtained from these cell lines by reverse transcription-polymerase chain reaction (RT-PCR) and confirmed by Southern hybridization. Sequencing analysis of GnRH PCR products showed that their sequences have 100% identity to the published human GnRH cDNA sequence. These results indicated that GnRH and GnRHR genes are expressed in all the cell lines tested in the present study, and strengthen the concept that GnRH may act as an autocrine regulator on the growth of cancer cells.
The use of regional analgesia for pain relief during labor has become increasingly common in obst... more The use of regional analgesia for pain relief during labor has become increasingly common in obstetric practice. Intrapartum regional analgesia is now used by more than 50% of parturients in the United States. 1 Although this form of obstetric analgesia has been shown to be a safe and effective method of pain relief, there is controversy regarding the effect of regional analgesia on the rate of cesarean births due to the indication of dystocia. 2-7 Elevated rates of instrument-assisted vaginal delivery associated with the conduction of analgesia have also been reported. 5,6,8 Differences in study design have made it difficult to compare reported data on the effect of regional Background/Purpose: Regional analgesia for labor pain relief is effective and widely used. This study evaluated the controversial association between mode of operative delivery and patient-elective labor regional analgesia.
Duchenne muscular dystrophy (DMD) is the most common X-linked recessive neuromuscular disorder. 1... more Duchenne muscular dystrophy (DMD) is the most common X-linked recessive neuromuscular disorder. 1 Allelic to DMD, Becker muscular dystrophy (BMD) is a milder form of the disease. DMD/BMD is caused by mutations in the DMD gene located at Xp21.2, which produces the protein dystrophin. The gene spans 2500 kb and consists of 79 exons. Multiplex ligation-dependent probe amplification (MLPA), a technique for quantitative screening of copy numbers at specific target sequences, is a simple, rapid and reliable tool in detecting exon deletions and duplications of the DMD gene in male patients and female carriers. 7-9 For those without exon deletion or duplication, direct DNA
Risk estimation for Down&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;... more Risk estimation for Down&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s syndrome in antenatal serum screening with maternal age and multiple serum biomarkers is usually complicated and computationally intensive. We have developed a simple scoring system using the Spiegelhalter-Knill-Jones approach, which was based on Bayesian theorem and the logistic regression model. A prospective data set with 3842 singleton pregnancies including 6 affected pregnancies served as &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;trained data&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;. Maternal age, maternal serum alpha-fetoprotein and human chorionic gonadotrophin levels of each pregnant woman were adopted as the predictors to establish the scoring model using the S-KJ approach. Model validation was undertaken using a receiver operating characteristics (ROC) curve with another 3050 singleton pregnancies including 4 affected pregnancies (&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;validated data&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;). For the trained data the sensitivity and specificity of the scoring system at cut-off value of 1:250 was 66.7% and 92.6%, respectively. For the validated data the sensitivity and specificity at the same cut-off point was 75% and 92.2%, respectively. The area under the ROC curve of the trained and validated data was 76.96% (95% CI: 51.80-100%), and 94.07% (95% CI: 84.47-100%), respectively. The S-KJ scoring system has been demonstrated to be a simple, and efficient method for the risk estimation of Down&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s syndrome. This system can be applied to other antenatal serum screening systems.
This study examines (1) associations between four types of family and peer victimization and chil... more This study examines (1) associations between four types of family and peer victimization and child internet addiction and (2) the mediating effects of psychological symptoms on these associations. Data were collected from a national proportionately-stratified random sample of 6,233 fourth-grade primary school students in Taiwan in 2014. Bivariate correlations and sets of multiple regression analyses were conducted to examine the direct effects of multi dimensional victimization on child internet addiction and the indirect effects through psychological symptoms. The results reveal that being male and experiencing victimization (psychological neglect, physical neglect, witnessing domestic violence, and bully victimization) are associated with an increased risk of developing psychological symptoms and internet addiction among children. Moreover, we found that psychological symptoms partially mediate the associations between multidimensional victimization and child internet addiction, with the exception of physical neglect. In conclusion, this study demonstrates (1) the direct and indirect effects of multidimensional victimization on the psychological symptoms and child internet addiction, and (2) the importance of early family-and school-based prevention and intervention in addressing related public health concerns of multidimensional victimization and child internet addiction.
Journal of the Formosan Medical Association = Taiwan yi zhi, 2007
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive diso... more Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive disorders caused by mutations in the DMD gene. We intended to determine the distribution of DMD gene deletions and duplications in local Taiwanese male patients and potential female carriers. A total of 102 unrelated subjects, including 89 unrelated DMD/BMD male patients and another 13 unrelated potential female carriers, were recruited for this study. Multiplex ligation-dependent probe amplification (MLPA) was employed to detect DMD gene deletions and duplications in the 102 subjects. MLPA was informative in 60.7% (54/89) of these patients, identifying deletions in 36.0% (32/89) and duplications in 24.7% (22/89) of these patients. This assay revealed deletions in 30.8% (4/13) and duplications in 30.8% (4/13) of the 13 potential carriers. Deletions and duplications were detected in 35.3% (36/102) and 25.5% (26/102) of a total of 102 affected families, respectively in this series. The "h...
Journal of the Formosan Medical Association = Taiwan yi zhi, 2004
Cell-free fetal DNA in maternal blood is a promising non-invasive alternative for prenatal diagno... more Cell-free fetal DNA in maternal blood is a promising non-invasive alternative for prenatal diagnosis. The goal of this study was to determine fetal sex with maternal plasma in pregnant women without previous male offspring. Blood samples (3 mL) were collected at 6 to 16 weeks' gestation from 56 healthy pregnant women without previous male offspring. There were 23 pregnancies with male fetuses and 33 pregnancies with female fetuses. DNA was extracted from plasma and qualitative analysis of the sex-determining region Y (SRY) gene sequence on the Y chromosome (SRY-3317T) with dual-labeled fluorescent TaqMan probe using real-time quantitative polymerase chain reaction (PCR) was performed. In the 56 successfully assayed samples, SRY-positive signals were detected in 20 samples of the 23 pregnancies with male fetuses. None of the 33 successfully assayed samples from women bearing female fetuses yielded a positive signal. Because of its high correct prediction rate, fetal gender determ...
To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and mol... more To present the prenatal diagnosis of a fetus of mos46,X,del(Y)(q11.2)/45,X by cytogenetic and molecular analysis. A 35-year-old pregnant woman came to our hospital for amniocentesis, and fetal chromosomal aberrations with mos46,X, + mar/45,X were found. Fluorescence in situ hybridization revealed the existence of a Y centromere on the marker chromosome. Analysis with six pairs of short tandem repeat markers showed that the genomic DNA extracted from the uncultured amniotic fluid cells contained a deletion of Yq11.1-Yq11.2. Spermatogenesis loci of the Y chromosome were studied using four sets of multiplex PCR. The proximal two markers DYS271 and KALY were present and the other 16 distal markers were deleted. No deletion was noted in the Y chromosome of the father. Cytogenetic and molecular analyses revealed deletions of AZFb, d, and c regions on Yq11.2-Yqter in the fetal Y chromosome. Postmortem examination of the fetus showed a grossly normal male fetus with normal external genitali...
Genetics in medicine : official journal of the American College of Medical Genetics
To determine the mutation spectrum of the connexin 26 gene among 324 Taiwanese patients with prel... more To determine the mutation spectrum of the connexin 26 gene among 324 Taiwanese patients with prelingual deafness and the carrier rate of gene mutation in another 432 unrelated control subjects. The coding region of the connexin 26 gene was sequenced in both directions to detect mutation in all 756 samples. Among the 756 samples tested, 21 connexin 26 variants were detected, including 7 novel ones. The 235delC mutation was the most common, accounting for 57.6% of the mutant alleles. Among patients, 48 (14.8%) had connexin 26 gene mutations. In the control group, the carrier rate of connexin 26 mutation was estimated at 2.8%. The mutation spectrum of the connexin 26 gene is wide, with more than half of the patients having only one mutation detected. Thus, further efforts are needed to look for possible existence of a second mutant allele.
Study results of variations in the X chromosome are useful tools in researching the genetic diver... more Study results of variations in the X chromosome are useful tools in researching the genetic diversity of human populations and individual identification. We developed a 13 X chromosomal short tandem repeat (STR) multiplex system (DXS6807, DXS8378, DSX9902, DXS7132, DXS9898, DXS6809, DXS6789, DXS7424, DXS101, GATA172D05, HPRTB, DXS8377, DXS7423) amplified in one single polymerase chain reaction. DNA samples of 113 male and 108 female Taiwanese Han subjects were successfully analyzed using this 13 X-STR multiplex system. The distributions of allele frequencies were examined for independence. DXS8377, DXS101, DXS6789, and DXS6809 were found to be the most polymorphic markers in this study. High values of discrimination power and mean exclusion chance without significant evidence of association between these markers were obtained. In conclusion, this 13 X chromosomal STR multiplex system offers considerable forensic efficiency and may be useful in forensic identification casework.
The analysis of Y-chromosome short tandem repeat (Y-STR) loci is a powerful tool in forensic case... more The analysis of Y-chromosome short tandem repeat (Y-STR) loci is a powerful tool in forensic casework. The aim of this study was to present the 17 Y-STR loci haplotype distributions of groups of population living in Taiwan and to demonstrate genetic distances between the groups as well as multidimensional scaling plot based on Y-STR genotype data. Five hundred and fifteen DNA samples from unrelated males of seven groups of population, including Taiwanese Han, two groups of indigenous Taiwanese of Taiwan Island, Tao, mainland Chinese, Filipinos, and a group of people with European, Near Eastern, or South Asian ancestry, were analyzed using a commercial kit that co-amplifies 17 Y-STRs. A total of 471 different haplotypes with 440 unique haplotypes were identified. The overall haplotype diversity was 0.9995 +/- 0.0002. High haplotype diversity was observed in six groups of population, except the Tao. These Y-STRs revealed a low discrimination capacity in the Tao population (36.84%), wh...
Respect for patients&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; autonomy is a princ... more Respect for patients&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; autonomy is a principle issue in medical ethics. Patients&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39; understanding of antenatal serum screening for Down syndrome upon informed consent has barely been assessed. Our objective was to evaluate pregnant women&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s perceived level of understanding of this serum screening. Pregnant women between the 15(th) and 21(st) gestational week were randomized into control and experimental groups, and were asked to complete a questionnaire before and after genetic counselling provided by researchers. The primary endpoints were the perceived level of understanding of serum screening for Down syndrome and the autonomy of the decision making for this serum screening. The secondary endpoints were the anxiety and depression levels of these women. Participants in the experimental group (n = 96) had a significantly higher perceived level of understanding of antenatal serum screening for Down syndrome than participants in the control group (n = 97). There were significantly more respondents in the experimental group making the decision themselves to undergo serum screening than women in the control group. Anxiety and depression levels were not significantly different between the women in the two groups. Pregnant women should be offered more information to allow them to make an informed decision before they undergo antenatal serum screening for Down syndrome. Comprehensive genetic counseling improved pregnant women&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s autonomy in deciding whether to participate in serum screening. Health service providers should make effort to fulfill the ethical requirements of informed consent.
Objective: Sexual assault is a form of interpersonal violence with significant consequential heal... more Objective: Sexual assault is a form of interpersonal violence with significant consequential health problems. The purpose of this study was to describe the characteristics of the victims, assaults, and associated physical and psychologic trauma of sexual assault cases in Taipei. Materials and Methods: Data were retrospectively collected from the medical records of sexual assault victims who visited the emergency department of a medical center in Taipei from 1991 to 2003. The characteristics of the victims, assaults, and factors associated with general body and genital trauma were analyzed. Results: There were 114 sexual assault victims, including 107 females and seven males, aged from 3 to 49 years (mean, 17.9 years). Overall, 72.3% of victims had evidence of physical trauma. Genital/anal injuries (53.3%) occurred more often than general body trauma (41.0%). The presence of general body injuries was positively associated with physical examination within 72 hours, and negatively associated with a victim age younger than 18 years. Genital/anal lesions were significantly more common in victims without prior sexual intercourse.
Analysis of human mitochondrial DNA (mtDNA) polymorphisms in the D-loop region has become a usefu... more Analysis of human mitochondrial DNA (mtDNA) polymorphisms in the D-loop region has become a useful tool in forensic casework and matrilineal origin research. In this study, the mtDNA D-loop region including hypervariable region 1 (HV1), hypervariable region 2 (HV2), segment between HV1 and HV2 (7S DNA spanned region), and extended hypervariable region 3 (HV3ex) was sequenced in 539 unrelated individuals
In order to evaluate the association between placental thickness (Pr) and fetal homozygous alpha-... more In order to evaluate the association between placental thickness (Pr) and fetal homozygous alpha-thalassaemia 1 before the appearance of classic ultrasound findings of haemoglobin (Hb) Bart's hydrops fetalis, a total of 473 pregnancies were collected. The control group included 422 normal pregnancies with a gestational age from 14 to 23 weeks and the study group included 51 affected fetuses in the same gestational period. Fetal biparietal diameter (BPD) and PT were measured by high-resolution ultrasound. F T was evaluated against BPD. In the control group, the PT generally increased in parallel with the advancement of gestational age. All I T measurements in the study group were above the mean Pr of their respective gestational week in the control group. Forty-six (90 per cent) of the pregnancies in the study group had PT larger than the mean plus two standard deviations of the control group. This study suggests that ultrasound measurement of PT may be a useful aid in the prenatal diagnosis of Hb Bart's hydrops fetalis before its classic findings become apparent in the late second trimester or third trimester. KEY woms-Hb Bart's hydrops fetalis, homozygous alpha-thalassaemia 1, placental thickness, prenatal diagnosis, ultrasound.
The polymerase chain reaction (PCR) is a quite sensitive diagnostic tool but its specificity may ... more The polymerase chain reaction (PCR) is a quite sensitive diagnostic tool but its specificity may be hampered because of contamination of foreign DNA. In order to determine the diagnostic accuracy of PCR in diseases due to gross gene deletion, a total of 180 fetuses at risk of homozygous South-East Asian deletion (SEA) of alpha-globin genes were included for study. Both PCR and Southern hybridization (SH) were performed. By PCR, three of 43 affected fetuses were misdiagnosed as heterozygotes; four of 50 normal fetuses were misdiagnosed as heterozygotes; and four of 87 heterozygotes were misdiagnosed, two as normal and two as affected. Misdiagnosis in affected and normal fetuses was most likely due to maternal DNA contamination, while misdiagnosis in heterozygotes was probably due to a failed PCR. In the experiments with PCR in which we added DNA from a carrier woman to an affected or a normal fetus, a level of 1/64 and 1/16 contamination resulted in the appearance of normal and SEA breakpoint sequences, respectively. In the SH experiments using artificially contaminated DNA, a level of 1/4 contamination showed the normal and SEA bands, respectively, while a contamination level lower than 1/8 and 1/16 respectively did not reveal contamination bands. The high sensitivity of PCR makes it easier to amplify contaminated DNA. For accurate prenatal diagnosis, PCR should be performed very carefully and SH seems to be a useful back-up.
Neuromodulation: Technology at the Neural Interface, 2009
Objectives. Dysmenorrhea is a disturbing problem among women of childbearing age. The purpose of ... more Objectives. Dysmenorrhea is a disturbing problem among women of childbearing age. The purpose of this study is to investigate the effect of high-frequency transcutaneous electrical nerve stimulation (TENS) on primary dysmenorrhea and to compare the placebo effect by sham TENS in a randomized controlled study. Materials and Methods. Twenty-two women participated in the two-month experiment by using TENS or sham TENS in a random order for their dysmenorrhea. Outcome measures included self-reported pain intensity, symptom and function questionnaire related to dysmenorrhea, quality of life, satisfaction after TENS application, and other pain management agents adapted by the participants. Two-way repeated measures analysis of variance (two-way ANOVA) was conducted to compare pain intensity between pre-post values and groups (TENS vs. placebo). One-way repeated measures analysis of variance (one-way ANOVA) was conducted to compare scores from questionnaire of symptoms and quality of life at baseline, and after placebo or TENS stimulation. Results. Pain intensity in TENS is significantly decreased than in the placebo group (p = 0.018). The decrease of pain intensity after TENS and placebo TENS were both significant, with p < 0.00005 and p < 0.00005 respectively. Furthermore, TENS significantly changed the degree of autonomic symptoms (p = 0.048); but not after placebo TENS. Conclusion. This result supports that women in our country who suffer from primary dysmenorrhea could benefit by using TENS, which is consistent with the previous studies. In addition to pain-relieving effects, relief of the autonomic symptoms associated with dysmenorrhea also indicated that the mechanism of TENS might be different from the placebo effect of the sham TENS stimulation. These findings indicate the immediate effects of TENS in women with primary dysmenorrheal.
Human osteoclast formation from mononuclear phagocyte precursors involves interactions between tu... more Human osteoclast formation from mononuclear phagocyte precursors involves interactions between tumor necrosis factor (TNF) ligand superfamily members and their receptors. Many of the proinflammatory cytokines and growth factors implicated in inflammatory processes have also been demonstrated to impact osteoclast differentiation and function. Recent evidence indicates that the TNF-related apoptosis-inducing ligand (TRAIL) of the TNF ligand superfamily, which was initially thought to induce apoptosis in many transformed cell lines, can serve as an effector molecule in activated T cells. We show in this work that TRAIL can induce osteoclast formation from human monocytes and murine RAW264.7 macrophages. We demonstrated that both cell models differentiate into osteoclast-like cells in the presence of TRAIL in a dose-dependent manner, as evaluated in terms of tartrate-resistant acid phosphatase (TRAP)-positive multinucleated cells and bone resorption activity. The TRAIL-induced osteoclast differentiation is independent of caspase activation and apoptosis induction activity. However, TRAIL-induced osteoclastogenesis is dependent on activation of NF-kappaB, ERK, and p38 MAP kinase. Thus, our data demonstrate that TRAIL induces osteoclast differentiation via direct engagement with the TRAIL death receptor through a signaling pathway distinct from apoptosis. Our results indicate that in addition to triggering apoptosis, TRAIL induces osteoclast differentiation. It provides a novel role for TRAIL in regulating osteoclast differentiation and in osteoimmunology.
The presence of gonadotropin-releasing hormone (GnRH) binding sites in biopsy samples of human ep... more The presence of gonadotropin-releasing hormone (GnRH) binding sites in biopsy samples of human epithelial ovarian cancer and ovarian tumor cell lines as well as the demonstration of the inhibitory effects of GnRH analogues on the growth of these cells raised the possibility that GnRH is produced locally by ovarian cancer cells. In order to investigate an autocrine/paracrine regulatory mechanism in human carcinomas, we have studied the expression of GnRH and GnRHR mRNA in human ovarian epithelial cell lines (OVCAR-3 and SKOV3), human choriocarcinoma cell line (JBG-3) and human hepatocarcinoma cell line (HepG 2). Using primers corresponding to published human GnRH and GnRHR cDNA sequences, predicted PCR products were obtained from these cell lines by reverse transcription-polymerase chain reaction (RT-PCR) and confirmed by Southern hybridization. Sequencing analysis of GnRH PCR products showed that their sequences have 100% identity to the published human GnRH cDNA sequence. These results indicated that GnRH and GnRHR genes are expressed in all the cell lines tested in the present study, and strengthen the concept that GnRH may act as an autocrine regulator on the growth of cancer cells.
The use of regional analgesia for pain relief during labor has become increasingly common in obst... more The use of regional analgesia for pain relief during labor has become increasingly common in obstetric practice. Intrapartum regional analgesia is now used by more than 50% of parturients in the United States. 1 Although this form of obstetric analgesia has been shown to be a safe and effective method of pain relief, there is controversy regarding the effect of regional analgesia on the rate of cesarean births due to the indication of dystocia. 2-7 Elevated rates of instrument-assisted vaginal delivery associated with the conduction of analgesia have also been reported. 5,6,8 Differences in study design have made it difficult to compare reported data on the effect of regional Background/Purpose: Regional analgesia for labor pain relief is effective and widely used. This study evaluated the controversial association between mode of operative delivery and patient-elective labor regional analgesia.
Duchenne muscular dystrophy (DMD) is the most common X-linked recessive neuromuscular disorder. 1... more Duchenne muscular dystrophy (DMD) is the most common X-linked recessive neuromuscular disorder. 1 Allelic to DMD, Becker muscular dystrophy (BMD) is a milder form of the disease. DMD/BMD is caused by mutations in the DMD gene located at Xp21.2, which produces the protein dystrophin. The gene spans 2500 kb and consists of 79 exons. Multiplex ligation-dependent probe amplification (MLPA), a technique for quantitative screening of copy numbers at specific target sequences, is a simple, rapid and reliable tool in detecting exon deletions and duplications of the DMD gene in male patients and female carriers. 7-9 For those without exon deletion or duplication, direct DNA
Risk estimation for Down&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;... more Risk estimation for Down&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s syndrome in antenatal serum screening with maternal age and multiple serum biomarkers is usually complicated and computationally intensive. We have developed a simple scoring system using the Spiegelhalter-Knill-Jones approach, which was based on Bayesian theorem and the logistic regression model. A prospective data set with 3842 singleton pregnancies including 6 affected pregnancies served as &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;trained data&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;. Maternal age, maternal serum alpha-fetoprotein and human chorionic gonadotrophin levels of each pregnant woman were adopted as the predictors to establish the scoring model using the S-KJ approach. Model validation was undertaken using a receiver operating characteristics (ROC) curve with another 3050 singleton pregnancies including 4 affected pregnancies (&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;validated data&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;quot;). For the trained data the sensitivity and specificity of the scoring system at cut-off value of 1:250 was 66.7% and 92.6%, respectively. For the validated data the sensitivity and specificity at the same cut-off point was 75% and 92.2%, respectively. The area under the ROC curve of the trained and validated data was 76.96% (95% CI: 51.80-100%), and 94.07% (95% CI: 84.47-100%), respectively. The S-KJ scoring system has been demonstrated to be a simple, and efficient method for the risk estimation of Down&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;#39;s syndrome. This system can be applied to other antenatal serum screening systems.
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