Biomedical subjects

Pao-Lin Kuo

Publications and source records attributed to Pao-Lin Kuo.

At least 19 recordsLinked to original sources

PubMed2026

Successful Live Birth Following Treatment of Persistent Endometrial Dysbiosis and Recurrent Chronic Endometritis: A Case Report.

CASE: To study the cause of recurrent endometritis, which recurred after standard antibiotic therapy, we report the case of a 40-year-old woman with a history of recurrent pregnancy, preterm birth, and CE. The endometritis recurred following a standard antibiotic regimen. OUTCOME: Microbiome analysis via 16S rRNA gene sequencing revealed persistent dysbiosis in both vaginal and endometrial samples despite antibiotic regimens. Whole-exome sequencing (WES) identified rare variants in TRPV3 and CD36, potentially associated with epithelial barrier dysfunction. Following an extended course of antibiotic therapy, the woman gave birth to a healthy baby at GA 32 weeks. CONCLUSIONS: This case highlights the possibility that barrier gene variants may be associated with persistent endometrial dysbiosis and recurrence of CE. An intensive antibiotic regimen may help achieve a viable pregnancy in patients with recurrent CE following standard antibiotic therapy.

antibiotics↗

PubMed2007

Microsatellite in the 3' untranslated region of human fibroblast growth factor 9 (FGF9) gene exhibits pleiotropic effect on modulating FGF9 protein expression.

Fibroblast growth factor 9 (FGF9) is a member of secreted polypeptide families and involved in many important biological processes, including implantation and morphogenesis during embryogenesis and adult life. Recently, Fgf9-knockout mice exhibited male-to-female sex reversal, demonstrating a novel function for FGF9 in testicular development. We hypothesized that FGF9 is involved in sex development at an early embryonic stage in humans. In this study, we systematically screened sequences of the FGF9 gene in 21 XY females and 72 XX females and XY males to examine whether sequence variants of the FGF9 gene play a pathophysiological role on human gonadal dysgenesis. No mutation was identified, but a single nucleotide variant and two microsatellites were found. The allelic distribution of polymorphic microsatellite in the 3'-UTR of FGF9 between patients and controls was slightly different with Bonferroni correction (P=0.06). We further applied reporter gene system and quantitative RT-PCR to study the function of this microsatellite motif and results demonstrated that the (TG)(n) motif modulated gene expression at both pre- and post-transcriptional levels. The (TG)(14) allele, which showed a potential association with male-to-female sex reversal (odds ratio=6.08, 95% confidence interval=1.39-26.63), displayed the strongest promoter activity and longest mRNA stability. These data demonstrated that 3'-UTR microsatellite of the FGF9 is a functional polymorphism that plays dual roles in regulating FGF9 expression. Although our preliminary result suggested a possible association between FGF9 and human gonadal dysgenesis, the major limitation of small dataset in this study points out the requirement for further investigation.

3' Untranslated Regions↗

PubMed2006

Identification of ten novel genes involved in human spermatogenesis by microarray analysis of testicular tissue.

OBJECTIVE: To identify novel genes that are down-regulated in the testicular tissue of infertile men. DESIGN: Prospective study. SETTING: University-based reproductive clinics and genetics laboratory. PATIENTS: Nine patients with normal spermatogenesis, and 15 patients with maturation arrest (MA) or Sertoli cell-only syndrome (SCOS). INTERVENTION: Testicular samples of patients with the same histology were pooled for complementary DNA (cDNA) microarray analysis. MAIN OUTCOME MEASURE: Novel, down-regulated genes. RESULTS: In total, 300 genes were significantly down-regulated in SCOS or MA samples, and 10 novel sterility-related genes were identified. Of the 10 novel genes, 6 genes (Hs.126780, Hs.553658, Hs.274135, Hs.268122, Hs.531701, and Hs.171130) encode proteins with predictable functional domains, and all these functional domains are believed to correlate with spermatogenesis and/or spermiogenesis. Conversely, the other 4 genes (Hs.351582, Hs.407480, Hs.552781, and Hs.355570) do not encompass known functional domains. Two genes (Hs.407480 and Hs.552781) lack mouse orthologues. Most novel genes showed a testis-specific expression pattern in both mice and humans. Reverse transcription-polymerase chain reaction (RT-PCR) showed three distinct types of developmental stage-dependent expressions of message ribonucleic acid (mRNA) for these novel genes in murine testes. CONCLUSION: These 10 novel genes provide targets to elucidate novel pathways involved in human spermatogenesis.

Azoospermia↗

PubMed2006

Presence of TSPY transcript and absence of transcripts of other Y chromosomal genes in a case of microscopic gonadoblastoma.

BACKGROUND: Gonadoblastoma is found almost exclusively in people with gonadal dysgenesis and Y chromosomal DNA fragment. Accordingly, GBY (gonadoblastoma locus on the Y chromosome) has been mapped to the Y chromosome. Testis-specific protein Y-encoded (TSPY) gene may participate in the oncogenesis of gonadoblastoma expression of TSPY in the tumor tissue. This might suggest TSPY as a candidate gene for gonadoblastoma. CASE REPORT: A 14-year-old phenotypic girl with typical features of gonadal dysgenesis and a normal male karyotype. She underwent prophylactic bilateral gonadectomy to prevent future malignant changes of streak gonads. Histopathologic examination revealed microscopic foci of gonadoblastoma on the left side of ovary. We tested transcripts of 14 Y chromosomal genes by RT-PCR (TSPY, DAZ, BPY1 and BPY2, PRY, XKRY, CDY1 and CDY2, TTY1 and TTY2, PRKY, RBMY1, DBY and USP9Y), and only transcript of TSPY was detectable in the tumor tissue. CONCLUSION: Expression of TSPY in microscopic gonadoblastoma might suggest important roles of TSPY, but not other Y chromosomal genes, in the very early stage of oncogenesis.

Adolescent↗

PubMed2006

Association of DAZL haplotypes with spermatogenic failure in infertile men.

OBJECTIVE: To identify novel DAZL single nucleotide polymorphisms (SNPs) and to compare allele/genotype frequencies, linkage disequilibrium (LD) characteristics, and DAZL haplotypes between fertile and infertile men. DESIGN: Prospective case study. SETTING: University genetics laboratory and reproductive clinics. PATIENT(S): Two hundred thirty-one infertile men and 191 men with proven fertility. INTERVENTION(S): Single strand conformation polymorphism and sequence analysis for DAZL gene polymorphism screening were done for all subjects enrolled. MAIN OUTCOME MEASURE(S): Novel SNPs, allele/genotype frequencies, LD characteristics, and DAZL haplotypes between fertile and infertile men. RESULT(S): Five SNPs were identified: 260A>G, 386A>G, 520+34c>a, 584+28c>t and 796+36g>a. SNP 386A>G was significantly associated with spermatogenic failure and was mainly heterozygous in infertile patients. The major haplotypes in infertile men were AACTA (45.8%), followed by AACCG, AAATA, AAACG, and GGACG for 260A>G/386A>G/520+34c>a/584+28c>t/796+36g>a. The major haplotypes for the control subjects were AACCG (41.7 %), AAATA, and AACTA. Of all haplotypes, five showed significant differences in frequency between infertile men and control subjects. Haplotypes AACTA, AAACG, and GGACG were overtransmitted in patients with spermatogenic failure, whereas haplotypes AACCG and AAATA were undertransmitted in these patients. CONCLUSION(S): Our study suggests the association of autosomal DAZL haplotypes with human spermatogenic failure.

DNA Mutational Analysis↗

PubMed2006

Constitutional complex chromosomal rearrangements in azoospermic men--case report and literature review.

Complex chromosomal rearrangements are very rare and may lead to spermatogenic defect. We report on an infertile man with complex constitutional chromosomal rearrangements. The chromosomal breakpoints were located at 9p22, 13q22, and 21p11. This is the seventh case, to our knowledge, of complex chromosome rearrangements in a man presenting with a spermatogenic defect. The spermatogenic defect may be ascribed to disruption of sterile genes during chromosomal breakage or abnormal meiotic segregation of the rearranged chromosomes.

Adult↗

PubMed2006

Prenatal diagnosis of alobar holoprosencephaly with cystic hygroma.

OBJECTIVE: Holoprosencephaly is a kind of brain anomaly characterized by inadequate cleavage of the prosencephalon during early embryogenesis. In addition, holoprosencephaly associated with cystic hygroma and hydrops fetalis has never been reported. In this article, we report a rare case of holoprosencephaly associated with cystic hygroma and hydrops fetalis diagnosed prenatally. CASE REPORT: A 28-year-old woman, gravida 2, para 0, artificial abortion 1, was referred to our antenatal clinic at 16 weeks of gestation due to fetal cystic hygroma detected by prenatal routine ultrasonography at a local hospital. In our clinic, single ventricle with fused thalami and cystic mass at the fetal neck as well as hydrops fetalis were noted by level II ultrasound. Under the impression of holoprosencephaly with cystic hygroma and hydrops fetalis, termination of pregnancy with misoprostol was undertaken. The histopathology of fetal autopsy confirmed our diagnosis and disclosed additional intracranial abnormalities. CONCLUSION: Fetus with holoprosencephaly might have other associated structural abnormalities. Cystic hygroma and hydrops fetalis are rare associations. Meticulous sonographic examination to depict the associated defects are necessary in any fetus with holoprosencephaly.

Abortion, Induced↗

PubMed2006

Presacral epidermoid cyst with right hydronephrosis.

OBJECTIVE: Epidermoid cyst of the presacral space is a rare congenital lesion of ectodermal origin. Presacral epidermoid cyst with hydronephrosis is even rarer and has never been reported in Taiwan. Herein, we present a patient with presacral epidermoid cyst with right hydronephrosis. CASE REPORT: A 62-year-old woman had low abdominal pain for 2 weeks and was referred to our hospital for further management. In our hospital, computed tomography revealed a multilobulated cystic tumor (20 x 15 x 12 cm) in the lower abdomen, complicated with right severe hydronephrosis. Laparotomy was undertaken and a presacral tumor was removed. The pathologic diagnosis was an epidermoid cyst. CONCLUSION: A presacral epidermoid tumor is a rare tumor and a large presacral cystic tumor may mimic an ovarian tumor in imaging. All presacral tumors with or without symptoms should be evaluated thoroughly before operation. Complete surgical excision, preserving adjacent organs' function, should be kept in mind.

Diagnosis, Differential↗

PubMed2006

Acute viral hepatitis C-induced jaundice in pregnancy.

OBJECTIVE: Acute viral hepatitis C-induced jaundice in pregnancy is very rare and may be fatal. Here, we report a complicated case with acute hepatitis C-induced jaundice in pregnancy with successful management. CASE REPORT: A 27-year-old pregnant woman, gravida 2, para 1, with gestational age of 36 weeks and 5 days, was referred to our hospital due to jaundice and elevated liver enzymes of undetermined cause. She had been suffering from general weakness, diarrhea and vomiting for 1 week, and jaundice with tea-colored urine for 3 days. At our medical center, acute viral hepatitis C-induced jaundice was suspected. Since her general condition deteriorated at 36 weeks and 6 days of gestation, we decided to induce labor. A male baby was born smoothly via the vaginal route, with birth weight 2,857 g, birth length 48.6 cm, and 1- and 5-minute Apgar scores of 7 and 9, respectively. Maternal condition improved dramatically after delivery and her serum liver enzymes and bilirubin levels gradually approached normal ranges. CONCLUSION: Mothers and fetuses with acute viral hepatitis C-induced jaundice during pregnancy are at great risk of mortality and morbidity. Timely termination may be one of the choices of treatment when fetal maturity has been reached and the maternal condition has deteriorated.

Acute Disease↗

PubMed2006

Paroxysmal nocturnal hemoglobinuria superimposed with preeclampsia.

OBJECTIVE: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematologic disorder characterized by complement-mediated intravascular hemolysis. As maternal complication of PNH is already severe, it becomes much more complex when preeclampsia is superimposed. We present a case of PNH superimposed with severe preeclampsia in the third trimester. CASE REPORT: A 30-year-old, gravida 1, para 0, woman had PNH, diagnosed at the age of 17. Her PNH was stable under medication. In 2004, she conceived and had prenatal care at our hospital. At 35 weeks of gestation, preeclampsia with elevated blood pressure and proteinuria were superimposed and managed with close surveillance. A live male baby was delivered vaginally at 38 weeks of gestation. During parturition, her blood pressure increased to 180/100 mmHg. Thrombocytopenia, hyponatremia, hyperkalemia, hypoalbuminemia, elevated liver enzymes and lactate dehydrogenase were also noted. Preeclampsia continued to postpartum and eventually disappeared. CONCLUSION: The most frequent causes of PNH-related fetomaternal morbidity and mortality are hemolysis and thrombosis. The situation becomes even more complicated when PNH is superimposed with preeclampsia. Appropriate clinical surveillance, awareness of the potential risks of hemolysis and thrombosis, as well as evaluation of fetal wellbeing are essential.

Adult↗

PubMed2006

Uniform deletion junctions of complete azoospermia factor region c deletion in infertile men in Taiwan.

AIM: To determine the deletion junctions of infertile men in Taiwan with azoospermia factor region c (AZFc) deletions and to evaluate the genotype/phenotype correlation. METHODS: Genomic DNAs from 460 infertile men were examined. Bacterial artificial chromosome clones were used to verify the accuracy of polymerase chain reaction. Deletion junctions of the AZFc region were determined by analysis of sequence-tagged sites and gene-specific markers. RESULTS: Complete AZFc deletions, including BPY2, CDY1 and DAZ genes, were identified in 24 men. The proximal breakpoints were clustered between sY1197 and sY1192, and the distal breakpoints were clustered between sY1054 and sY1125 in all but one of the 24 men. The testicular phenotypes of men with complete AZFc deletion varied from oligozoospermia, to hypospermatogenesis, to maturation arrest. CONCLUSION: We identified a group of infertile men with uniform deletion junctions of AZFc in the Taiwan population. Despite this homogeneous genetic defect in the AZFc region, no clear genotype/phenotype correlation could be demonstrated.

Asian People↗

PubMed2005

Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome.

We report a family with inherited Potocki-Shaffer syndrome. The phenotypically normal mother has an interstitial deletion of 11(p11.12p11.2) with neocentric marker chromosome formation. The marker chromosome contains the deleted material on 11p11.2 and is likely a ring. The patient inherited a maternal deleted chromosome 11 but not the marker chromosome, thus resulting in an unbalanced karyotype along with the phenotype of Potocki-Shaffer syndrome. The deleted region in our case-11p11.12p11.2-is a newly reported site of constitutional neocentromere formation. This is also the first report describing deletion of 11p11.12-p11.2 and neocentromere formation resulting in inherited Potocki-Shaffer syndrome.

Abnormalities, Multiple↗

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

Expression patterns of the DAZ-associated protein DAZAP1 in rat and human ovaries.

OBJECTIVE: To evaluate the expression of DAZAP1 (deleted in azoospermia-associated protein 1) in rat and human ovaries. DESIGN: Experimental study. SETTING: University hospital. PATIENT(S): Twelve corpus luteum (CL) specimens were collected during operation, either by laparoscopic surgery for CL rupture or by laparotomy for benign gynecologic conditions. INTERVENTION(S): Surgical excision of 12 human CL. MAIN OUTCOME MEASURE(S): Proteins analyzed by immunohistochemical staining, Western blotting, and co-immunoprecipitation experiments. RESULT(S): DAZAP1 is expressed in rat and human luteal cells. Expression of DAZAP1 decreases with advancing stages of CL. Co-immunoprecipitation experiments show in vivo interaction of DAZ-like (DAZL) protein with DAZAP1 in the ovarian tissues. CONCLUSION(S): The expression patterns of DAZAP1 and DAZL are identical within rat and human ovaries. In mammalian species, DAZAP1 may be involved in diverse reproductive functions, ranging from cell cycle regulation and maturation of oocytes to differentiation of luteal cells.

Animals↗

PubMed2005

Polymorphisms associated with the DAZ genes on the human Y chromosome.

The human Y chromosome is unique in that it does not engage in pairing and crossing over during meiosis for most of its length. Y chromosome microdeletions, a frequent finding in infertile men, thus occur through intrachromosomal recombination, either within a single chromatid or between sister chromatids. A recently identified polymorphism associated with increased risk for spermatogenic failure, the gr/gr deletion, removes two of the four Deleted in Azoospermia (DAZ) genes in the AZFc region on the Y-chromosome long arm. We found the likely reciprocal duplication product of gr/gr deletion in 5 (6%) of 82 males using a novel DNA-blot hybridization strategy and confirmed the presence of six DAZ genes in three cases by FISH analysis. Additional polymorphisms identified within the DAZ repeat regions of the DAZ genes indicate that sister chromatid exchange plays a significant role in the genesis of deletions, duplications, and polymorphisms of the Y chromosome.

Alleles↗

PubMed2005

Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome.

Potocki-Shaffer syndrome (PSS) is a contiguous gene deletion syndrome that results from haploinsufficiency of at least two genes within the short arm of chromosome 11[del(11)(p11.2p12)]. The clinical features of PSS can include developmental delay, mental retardation, multiple exostoses, parietal foramina, enlarged anterior fontanel, minor craniofacial anomalies, ophthalmologic anomalies, and genital abnormalities in males. We constructed a natural panel of 11p11.2-p13 deletions using cell lines from 10 affected individuals, fluorescence in situ hybridization (FISH), microsatellite analyses, and array-based comparative genomic hybridization (array CGH). We then compared the deletion sizes and clinical features between affected individuals. The full spectrum of PSS manifests when deletions are at least 2.1 Mb in size, spanning from D11S1393 to D11S1385/D11S1319 (44.6-46.7 Mb from the 11p terminus) and encompassing EXT2, responsible for multiple exostoses, and ALX4, causing parietal foramina. Yet one subject with parietal foramina whose deletion does not include ALX4 indicates that ALX4 in this subject may be rendered functionally haploinsufficient by a position effect. Based on comparative deletion mapping of eight individuals with the full PSS syndrome including mental retardation and two PSS families with no mental retardation, at least one gene related to mental retardation is likely located between D11S554 and D11S1385/D11S1319, 45.6-46.7 Mb from the 11p terminus.

Abnormalities, Multiple↗

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↗

PubMed2005

Six cases of deletion 9p24 and trisomy 19q13.4 inherited from a familial balanced translocation.

The deletion 9p with trisomy 19q syndrome is a rare disorder. We report 2 adults and 4 children with deletion 9p and trisomy 19q due to familial balanced 9p;19q translocation with clinical features suggestive of monosomy 9p. The children had dysmorphic features and psychomotor retardation while the adults were self-sufficient but worked in a sheltered environment. High-resolution chromosome analysis and fluorescence in situ hybridization confirmed that the 6 cases of unbalanced translocation, der(9)t(9;19)(p24.1;q13.4) were inherited from a balanced translocation carrier, t(9;19)(p24.1;q13.4). The dysmorphic features included trigonocephaly, small nose with stunted tip, and long philtrum. Associated anomalies included wide-set nipples, extra finger flexion creases, hernia, external genitalia hypoplasia, scoliosis, and hypopigmented skin patch. We suggest that genetic counseling is necessary for those who have family members with dysmorphic features and/or major anomalies and/or psychomotor retardation.

Adult↗