Publications (7)17.52 Total impact
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Article: Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin.
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ABSTRACT: XX male is a rare sex chromosomal disorder in infertile men. The purpose of this study was to distinguish the clinical and genetic features of the 46,XX male syndrome from other more frequent, testicular-origin azoospermic causes of male infertility. To study 46,XX male syndrome, we compared clinical and endocrinological parameters to other groups with testicular-origin azoospermia, and to an age-matched group of healthy males and females as normal control. Fluorescent in situ hybridization for detection and localization of the sex-determining region of the Y gene (SRY), array-based comparative genomic hybridization screening, and real-time qualitative polymerase chain reaction of FGF9, WT1, NR5A1, and SPRY2 genes were performed in this genetic investigation. Our three patients with 46,XX male syndrome had a much higher follicular-stimulating hormone level, lower body height, lower testosterone level, and ambiguous external genitalia. One of the three patients with 46,XX male syndrome was SRY-negative. A further genetic study, including a comparative genomic hybridization array and real-time polymerase chain reaction, showed a gain of FGF9 copy numbers only in the SRY-negative 46,XX male. The genetic copy number of the FGF9 gene was duplicated in that case compared to the normal female control and was significantly lower than that of the normal male control. No such genomic gain was observed in the case of the two SRY-positive 46,XX males. Similar to clinical manifestations of 46,XX male syndrome, genetic evidence in this study suggests that FGF9 may contribute to sex reversal, but additional confirmation with more cases is still needed.Journal of the Formosan Medical Association 02/2013; 112(2):72-8. · 1.13 Impact Factor -
Article: The Neuroprotective Effect of Platelet-rich Plasma on Erectile Function in Bilateral Cavernous Nerve Injury Rat Model.
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ABSTRACT: Introduction. Neurogenic erectile dysfunction resulting from cavernous nerve (CN) injury is a major complication caused by radical prostatectomy. The use of platelet-rich plasma (PRP) on the nerve-injured site has shown promising results for the nerve regeneration. However, the effects of PRP injection in corpus cavernosum after bilateral CN injury have never been investigated. Aim. To assess the neuroprotective effect of PRP injection in corpus cavernosum after bilateral CN injury. Methods. Male Sprague-Dawley rats were randomly divided into three groups: Group I underwent sham operation, while the remaining two groups underwent bilateral CN crush. Crush injury groups were treated at the time of injury with an application of PRP or normal saline only injection in the corpus cavernosum, respectively. Four weeks later, erectile function (EF) was assessed by CN electrosimulation, and CNs as well as penile tissue were collected for histology. Main Outcome Measures. Intracavernous pressure (ICP) monitored during electrical stimulation of CNs; myelinated axons number of CNs and dorsal penile nerve; collagen type change, number of apoptotic cells, and mRNA expression of caspase-3 and transforming growth factor-β1 (TGF-β1) in the corpus cavernosum. Results. Four weeks after surgery, in the vehicle-only group, the functional evaluation showed a lower mean maximal ICP than that in the sham group (P < 0.05). PRP treatments resulted in significant recovery of EF, as compared with the vehicle-only group (P < 0.05). Histologically, the PRP-treated group had a significant preservation of myelinated axons of CNs compared with the vehicle-only group (P < 0.05) and reduced the apoptotic index. The mRNA expression of TGF-β1 in the corpus cavernosum tissue was significantly decreased in the PRP group compared with the vehicle-only group (P < 0.05). Conclusions. PRP injection in the corpus cavernosum increased the number of myelinated axons and facilitated recovery of EF in the bilateral CN injury rat model. Wu C-C, Wu Y-N, Ho H-O, Chen K-C, Sheu M-T, and Chiang H-S. The neuroprotective effect of platelet-rich plasma on erectile function in bilateral cavernous nerve injury rat model. J Sex Med **;**:**-**.Journal of Sexual Medicine 08/2012; · 3.55 Impact Factor -
Article: Using vote cards to encourage active participation and to improve critical appraisal skills in evidence-based medicine journal clubs.
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ABSTRACT: Evidence-based medicine (EBM) journal clubs are used by health care practitioners to critique and remain updated on relevant health literature. Vote cards, in three different colours (green/yellow/red), allow participants to express their opinions (agree/doubt/reject) on the quality and possibility of clinical application regarding the article being reviewed. Our aim is to assess the efficacy of using vote cards in EBM journal clubs. Evidence-based medicine journal club is held on a weekly basis in the Department of Surgery in Taipei Medical University Hospital, Taiwan. The participants of EBM journal clubs include medical students, resident doctors and primary care faculty members. After the presentation, participants use their vote cards to critically appraise the literature and decide if the rationales could be applied in their own practice. After a 12-week period, we evaluated the effectiveness of the vote cards based on survey findings of the participants. The majority of 66 respondents agreed that vote cards can improve the overall quality of EBM journal clubs, may encourage active participation and improve critical appraisal skills. They also rated the vote cards more favourably than traditional hand voting and agree that vote cards should be used in future EBM journal clubs. We suggest the regular and routine use of vote cards in EBM journal clubs.Journal of Evaluation in Clinical Practice 06/2011; 17(4):827-31. · 1.23 Impact Factor -
Article: Gene copy number variations in Asian patients with congenital bilateral absence of the vas deferens.
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ABSTRACT: Congenital bilateral absence of the vas deferens (CBAVD) is a distinct clinical entity accounting for approximately 25% of obstructive azoospermia in infertile men. The association between CBAVD and mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles is well demonstrated in Caucasians, but the identity of CBAVD-susceptibility genes remains elusive in Asians. We investigate genomic copy number variations (CNVs) in a patient cohort of Taiwan. Genome-wide screening for genetic CNVs was conducted on eight individuals with CBAVD using array-based comparative genomic hybridization. One recurrent CNV was detected on 3q26.1 in five patients, and another was detected on a reproduction-related gene PANK2 in two patients. For the former, we further characterized the breakpoints in CBAVD and assessed the incidence in healthy individuals by tiling path arrays. The deletion in each patient was confirmed, and seven out of the eight controls were also affected. Examination of the homozygous loss of PANK2 by PCR in a larger cohort showed a homozygous deletion in only one of the 26 CBAVD males, and not in any of the 20 azoospermic patients without CBAVD, nor in any of the 16 control subjects. Our results suggest that 3q26.1 may not be a critical region for CBAVD. Additionally no strong association was found for PANK2 in this reproduction disorder. Other reproduction-related genes, such as PBX1, BRD3, COL18A1 and HMOX1, identified by this initial study may inspire further investigation.Human Reproduction 01/2009; 24(3):748-55. · 4.47 Impact Factor -
Article: CFTR mutation analysis of a Caucasian father with congenital bilateral absence of vas deferens, a Taiwanese mother, and twins resulting from ICSI procedure.
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ABSTRACT: Cystic fibrosis (CF), caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is one of the most common autosomal recessive diseases in Caucasians. We screened for the CFTR gene mutation in a Caucasian father with congenital bilateral absence of the vas deferens (CBAVD), a Taiwanese mother, and twins resulting from an intracytoplasmic single sperm injection (ICSI) procedure. DNA fragments that showed abnormal banding patterns on temporal temperature gradient gel electrophoresis analysis followed by analysis of DNA sequence was used. The Caucasian father with CBAVD had _F508 and p.L375F mutations. The two children were heterozygous for the _F508 and p.L375F mutations, respectively. Mutation analysis of the CFTR gene should always be recommended for infertile couples seeking ICSI. The possibility of the children resulting from ICSI being a victim or carrier of CBAVD or CF, especially when the father is Caucasian with CBAVD, should be discussed during genetic counseling.Journal of the Formosan Medical Association 10/2008; 107(9):736-40. · 1.13 Impact Factor -
Article: Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens.
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ABSTRACT: Clinically affected cystic fibrosis (CF) patients present a spectrum of genital phenotypes ranging from normal fertility to moderately impaired spermatogenesis and congenital bilateral absence of vas deferens (CBAVD). Little is known about the CF incidence in the Taiwanese population. It has been shown that the CBAVD in men without clinical evidence of CF is associated with a high incidence of mutated CFTR (cystic fibrosis transmembrane conductance regulator) alleles. In order to understand the involvement of the CFTR gene in the aetiology of Asian/Taiwanese male infertility, we screened the entirety of the CFTR gene in 36 infertile males with CBAVD. Temporal temperature gradient gel electrophoresis (TTGE) followed by direct DNA sequencing was used. Five mutations, p.V201M, p.N287K, c.-8G > C (125G > C), p.M469I and p.S895N, were found in five of the patients. p.N287K occurred in the first transmembrane-spanning domain, p.M469I in the first ATP-binding domain and p.S895N in the second transmembrane-spanning domain, were novel. In addition, seven homozygous and seven heterozygous 5T alleles in the intron 8 poly(T) tract were found. The overall frequency of CFTR mutant alleles in Taiwanese CBAVD males was 26 out of 72 = 36%. This finding was lower than the published frequency of CFTR mutations in other ethnic CBAVD patients (ranging from 50 to 74%). The frequency of p.M470V in Taiwanese CBAVD patients is not significantly different from that in the general population (P = 0.12). The results of this study add to the short list of Taiwanese/Asian CFTR mutations. Unlike Caucasian patients, the CFTR mutations cannot account for the majority of Taiwanese CBAVD. This is consistent with the low incidence of CF in the Asian/Taiwanese population. Furthermore, the mutation spectrum of CFTR in CBAVD patients does not overlap with the Caucasian CFTR mutation spectrum.Human Reproduction 09/2005; 20(9):2470-5. · 4.47 Impact Factor -
Article: Clinical and pathological correlation of the microdeletion of Y chromosome for the 30 patients with azoospermia and severe oligoasthenospermia.
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ABSTRACT: To review the accumulated 30 patients with different area of Y chromosome microdeletions, focusing on their correlation with the clinical and pathological findings. A total of 334 consecutive infertile men with azoospermia (218 patients) and severe oligoasthenospermia (116 patients) were screened. Complete physical and endocrinological examinations, general chromosome study and multiplex polymerase chain reaction assay to evaluate the Y chromosome microdeletion were performed. Ten patients received testicular biopsy. Then the clinical and pathological findings were analyzed with reference to the areas of Y chromosome microdeletion. There is a decline of the percentage of sperm appearing in semen in the group that the gene deletion region from AZFc to AZFb. The clinical evidence of the impairment (decreased testicular size and elevated serum FSH) is also relevantly aggravated in this group. However, the pathology of testicular biopsy specimen was poorly correlated with the different deletion areas of the Y chromosome, which may be due to the limited number of specimens. The clinical correlation of spermatogenic impairment to the different AZF deletion regions may provide the information for the infertile couples in pre-treatment counseling.Asian Journal of Andrology 01/2005; 6(4):369-75. · 1.52 Impact Factor
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2005
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Taipei Medical University
- Graduate Institute of Medical Sciences
Taipei, Taipei, Taiwan
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