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1.
Thromb J ; 14: 44, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27799851

RESUMO

BACKGROUND: Heritable thrombophilias are assumed important etiologies for recurrent pregnancy loss. Unlike in the Caucasian populations, protein S and protein C deficiencies, instead of Factor V Lieden and Prothrombin mutations, are relatively common in the Han Chinese population. In this study we aimed to investigate the therapeutic effect of low molecular weight heparin upon women with recurrent pregnancy loss and documented protein S deficiency. METHODS: During 2011-2016, 68 women with recurrent pregnancy loss (RPL) and protein S deficiency (both the free antigen and function of protein S were reduced) were initially enrolled. All the women must have experienced at least three recurrent miscarriages. After excluding those carrying balanced translocation, medical condition such as diabetes mellitus, chronic hypertension, and autoimmune disorders (including systemic lupus erythematosus and anti-phospholipid syndrome), coexisting thrombophilias other than persistent protein S deficiency (including transient low protein S level, protein C deficiency, and antithrombin III), only 51 women with RPL and sole protein S deficiency were enrolled. Initially they were prescribed low dose Aspirin (ASA: 100 mg/day) and unfortunately there were still 39 women ended up again with early pregnancy loss (12 livebirths were achieved though). Low-molecular-weight-heparin (LMWH) was given for the 39 women in a dose of 1 mg/Kg every 12 h from the day when the next clinical pregnancy was confirmed to the timing at least 24 h before delivery. The perinatal outcomes were assessed. RESULTS: Of 50 treatment subjects performed for the 39 women (i.e. 11 women enrolled twice for two pregnancies), 46 singletons and one twin achieved livebirths. The successful live-birth rate in the whole series was 94 % (47/50). Nineteen livebirths delivered vaginally whereas 28 delivered by cesarean section. The cesarean delivery rate is thus 59.57 %. Emergent deliveries occurred in 3 but no postpartum hemorrhage had been noted. CONCLUSIONS: Our pilot study in Taiwan, an East Asian population, indicated anti-coagulation therapy is of benefit to women with recurrent pregnancy loss who had documented sole protein S deficiency. TRIAL REGISTRATION: ISRCTN64574169. Retrospectively registered 29 Jun 2016.

2.
Gynecol Oncol ; 137(3): 462-7, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25827291

RESUMO

OBJECTIVE: A recent randomized trial demonstrated that concurrent chemoradiotherapy (CCRT) with weekly cisplatin and gemcitabine, followed by two adjuvant cycles of cisplatin and gemcitabine improved survival for advanced cervical cancer patients. An Asian Gynecologic Oncology Group (AGOG) study was designed to determine whether only adding gemcitabine in the chemoradiation phase without adjuvant chemotherapy could improve survival. METHODS: Between March 2009 and March 2013, 74 eligible patients with International Federation of Obstetrics and Gynecology stage III/IVA cervical cancer or stage I/II with positive pelvic/para-aortic nodal metastasis were enrolled. Thirty-seven patients were randomized to arm C (weekly cisplatin 40mg/m(2)) and 37 patients were randomized to arm CG (weekly cisplatin 40mg/m(2) and gemcitabine 125mg/m(2)), for six cycles. Six eligible patients were excluded before the beginning of treatment. RESULTS: An interim analysis showed superimposable progression-free (PFS) and overall survival (OS), a decision of closing accrual was made. A 3-year PFS was similar in both arms (arm C 65.1% vs. arm CG 71.0%, p=0.71), and a 3-year OS was 74.1% in arm C vs. 85.9% in arm CG (p=0.89), but crossed over at 5years. Grade 2-4 hematological toxicities, including neutropenia (p=0.028) and thrombocytopenia (p=0.001), were more frequent in arm CG than arm C. CONCLUSIONS: Despite limitation in power, it suggests that only adding gemcitabine at the CCRT phase does not provide substantially superior results, but treatment toxicities could increase. Further studies are required to determine the role of post-CCRT adjuvant chemotherapy in advanced cervical cancer.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Carcinoma de Células Escamosas/tratamento farmacológico , Carcinoma de Células Escamosas/radioterapia , Cisplatino/uso terapêutico , Neoplasias do Colo do Útero/tratamento farmacológico , Neoplasias do Colo do Útero/radioterapia , Adulto , Idoso , Carcinoma de Células Escamosas/patologia , Quimiorradioterapia/métodos , Cisplatino/administração & dosagem , Desoxicitidina/administração & dosagem , Desoxicitidina/análogos & derivados , Intervalo Livre de Doença , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias do Colo do Útero/patologia , Gencitabina
3.
Int J Cancer ; 131(3): E259-68, 2012 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-22095387

RESUMO

There are limited data on the prevalence and distribution of human papillomavirus (HPV) genotypes in vaginal intraepithelial neoplasia (VAIN). We sought to clarify this issue in a series of 450 VAIN cases with a confirmed diagnosis between 1990 and 2006. HPV genotyping was performed using paraffin-embedded specimens and polymerase chain reaction (PCR)-based methods. Multiple HPV types were validated by E6 type-specific PCR and direct sequencing. The HPV genotypes of the vaginal and cervical neoplasms were compared for those with incident VAIN and a history of previous/concomitant cervical neoplasms. Ki-67 was performed for supporting diagnosis of VAIN. Of these 450 VAIN cases (median age, 59 years; range, 19-93), two with missing paraffin blocks and 54 with poor DNA quality were excluded. HPV was detected in 273/394 (69.3%) VAIN, and multiple infections were found in 17.9% of HPV-positive samples. The leading types were HPV16 (35.5%), HPV58 (9.9%), HPV52 (9.9%), HPV39 (8.4%), HPV33 (7.3%) and HPV53 (7.0%). Among the 156 cases with a history of previous cervical neoplasia, 29.0% had concordant HPV genotypes, while synchronous VAIN samples (n = 49) were more likely to harbor concordant genotypes (58.7%) with the concomitant cervical neoplasm (p = 0.0003). Whether those HPV types in the incident VAIN lesions had existed in the vaginal epithelium at the time of the previous cervical neoplasia or a new acquisition needs to be clarified in prospective follow-up studies.


Assuntos
Alphapapillomavirus/classificação , Alphapapillomavirus/genética , Carcinoma in Situ/virologia , Infecções por Papillomavirus/virologia , Neoplasias do Colo do Útero/virologia , Neoplasias Vaginais/virologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Bases , Carcinoma in Situ/epidemiologia , DNA Viral/análise , Feminino , Humanos , Antígeno Ki-67/análise , Pessoa de Meia-Idade , Análise de Sequência de DNA , Neoplasias do Colo do Útero/epidemiologia , Neoplasias Vaginais/epidemiologia , Adulto Jovem
4.
Taiwan J Obstet Gynecol ; 61(2): 210-215, 2022 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-35361378

RESUMO

Uniparental disomy (UPD) is the inheritance of both homologous chromosomes from a single parent. Most chromosomes involving UPD have no pathogenic effects. However, abnormal phenotypes in cases with UPD can be mainly caused by disrupting genetic imprinting and by uncovering harmful autosomal recessive mutations. The documented phenotypes of UPD associated with imprinted genes include maternal UPD for chromosomes 7, 11, 14, 15, 16, and 20, and paternal UPD for chromosomes 6, 11, 14, 15, and 20. Prenatal awareness of UPD is important to provide accurate genetic counseling and prenatal UPD test is suggested when abnormal fetal ultrasound with suspicious phenotypes for UPD syndromes caused by genetic imprinting disorders or presence of chromosomal aberrations involving the imprinted chromosomes.


Assuntos
Aconselhamento Genético , Dissomia Uniparental , Aberrações Cromossômicas , Feminino , Impressão Genômica , Humanos , Gravidez , Diagnóstico Pré-Natal , Dissomia Uniparental/diagnóstico , Dissomia Uniparental/genética
5.
Taiwan J Obstet Gynecol ; 61(1): 146-149, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-35181027

RESUMO

OBJECTIVE: We present prenatal diagnosis of maternal uniparental disomy (UPD) 21 in association with low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with intrauterine growth restriction (IUGR) and a favorable outcome. CASE REPORT: A 42-year-old, gravida 2, para 0, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis initially revealed a karyotype of 46,XX in 20/20 colonies of cultured amniocytes. Simultaneous array comparative genomic hybridization (aCGH) analysis on uncultured amniocytes revealed a result of arr [GRCh37] (21) × 3 [0.16], (X) × 2, compatible with mosaic trisomy 21. After extensive investigation, the final result of conventional cytogenetic analysis of cultured amniocytes was 47,XX,+21[1]/46,XX[40]. The parental karyotypes were normal. Repeat amniocentesis was performed at 21 weeks of gestation. The cultured amniocytes had a karyotype of 47,XX,+21[3]/46,XX[27] and the uncultured amniocytes had a mosaic trisomy 21 level of 8.8% (10/114 cells) by interphase fluorescence in situ hybridization (FISH), a mosaic trisomy 21 level of 10% (log2 ratio = 0.08) by aCGH, and maternal UPD 21 by polymorphic DNA marker analysis. Prenatal ultrasound revealed IUGR. At 38 weeks of gestation, a phenotypically normal 2695-g baby was delivered. The cord blood and umbilical cord had the karyotype of 46,XX and maternal UPD 21. The placenta had a karyotype of 47,XX,+21[8]/46,XX[32] and a maternal origin of trisomy 21. Postnatal FISH analysis on 101 buccal mucosal cells showed 6.9% (7/101 cells) mosaicism compared with 2% (2/100 cells) in the normal control. The baby was doing well at age four months. CONCLUSION: Pregnancy with low-level mosaic trisomy 21 and maternal UPD 21 at amniocentesis can be associated with IUGR and a favorable outcome. Fetuses with maternal UPD 21 can be associated with mosaic trisomy 21 at amniocentesis.


Assuntos
Síndrome de Down/diagnóstico , Retardo do Crescimento Fetal/diagnóstico , Mosaicismo , Trissomia/diagnóstico , Dissomia Uniparental/genética , Adulto , Amniocentese , Cromossomos Humanos Par 21/genética , Hibridização Genômica Comparativa , Síndrome de Down/genética , Feminino , Retardo do Crescimento Fetal/genética , Humanos , Hibridização in Situ Fluorescente , Lactente , Cariótipo , Gravidez , Diagnóstico Pré-Natal , Trissomia/genética , Dissomia Uniparental/diagnóstico
6.
Gynecol Oncol ; 120(3): 449-53, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21145098

RESUMO

BACKGROUND: Vaginal douching is a common practice worldwide. Its effect on the natural history of the early lesion of human papillomavirus (HPV) infection, low-grade squamous intraepithelial lesion (LSIL), is unknown. METHODS: In a prospective nation-wide cohort (n=1332), epidemiological variables including habit of vaginal douching after intercourse and outcomes of LSIL were studied. Colposcopy-confirmed LSIL women (n=295) were followed every 3 months. Parameters of HPV infection, sexual behavior, personal hygiene and environmental exposures were compared with the follow-up outcomes. RESULTS: There was a 15% chance of HSIL co-existing with the LSIL cytology result. Eight percent of colposcopy-confirmed LSIL were found with HSIL in 1 year. With a follow-up of up to 36 months, 83% LSIL regressed, 11% progressed and 6% persisted. The mean time (95% CIs) to regression and progression were 5.2 (4.7-5.8) and 8.0 (5.8-10.3) months, respectively. Risk factors of the non-regression of LSIL included HPV prevalence on enrollment, habit of vaginal douching after intercourse with a hygiene product and non-regular Pap screening, with odd ratio of 4.4 (1.9-10.3), 3.14 (1.04-9.49) and 2.12 (1.24-3.62), respectively. HPV prevalence and vaginal douching also conferred a slower regression of LSIL (8.0 vs. 4.1 months, P<.001 and 8.0 vs. 5.6 months, P=0.02, respectively). CONCLUSION: The study disclosed a transient but warning nature of cytological LSIL. Practicing of vaginal douching after intercourse, especially with hygiene products, is associated with non-regression of LSIL.


Assuntos
Carcinoma de Células Escamosas/etiologia , Irrigação Terapêutica/efeitos adversos , Displasia do Colo do Útero/etiologia , Neoplasias do Colo do Útero/etiologia , Adulto , Carcinoma de Células Escamosas/virologia , Estudos de Coortes , Coito , Colposcopia , Estudos Transversais , Feminino , Humanos , Papillomaviridae/classificação , Papillomaviridae/isolamento & purificação , Estudos Prospectivos , Fatores de Risco , Neoplasias do Colo do Útero/virologia , Displasia do Colo do Útero/virologia
7.
Taiwan J Obstet Gynecol ; 59(5): 758-762, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32917332

RESUMO

OBJECTIVE: We present prenatal diagnosis of terminal 2q deletion and distal 10q duplication of paternal origin in a fetus associated with increased nuchal translucency and abnormal maternal serum screening results. CASE REPORT: A 26-year-old woman who had experienced spontaneous abortion twice underwent amniocentesis at 16 weeks of gestation because of an increased nuchal translucency thickness of 3.5 mm at 12 weeks of gestation and abnormal maternal serum screening results of 2.573 multiples of the median (MoM) of free ß-human chorionic gonadotrophin (ß-hCG) and 1.536 MoM of pregnancy-associated plasma protein-A (PAPP-A) resulting in a trisomy 21 risk of 1:64. Amniocentesis revealed a derivative chromosome 2. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr [hg19] 2q37.3 (238,294,223-242,782,258) × 1, 10q24.31q26.3 (102,018,246-135,426,386) × 3. Cytogenetic analysis of parental bloods revealed a karyotype of 46,XX in the mother and a karyotype of 46,XY,t(2;10)(q37.3;q24.3) in the father. The fetal karyotype was 46,XX,der(2)t(2;10)(q37.3;q24.3)pat. The pregnancy was terminated at 20 weeks of gestation, and a malformed fetus was delivered with facial dysmorphism. Postnatal analysis of the cord blood confirmed the results of prenatal diagnosis. The fetus had a 4.693-Mb deletion of 2q37.3 encompassing the genes of HDAC4, KIF1A, PASK, HDLBP, FARP2 and D2HGDH, and a 33.34-Mb duplication of 10q24.31-q26.3 encompassing the gene of NFκB2. CONCLUSION: First-trimester ultrasound and maternal serum biochemistry screening may help to identify an unexpected unbalanced familial translocation at prenatal diagnosis.


Assuntos
Transtornos Cromossômicos/diagnóstico , Trissomia/diagnóstico , Dissomia Uniparental/diagnóstico , Aborto Eugênico , Adulto , Amniocentese , Deleção Cromossômica , Cromossomos Humanos Par 10 , Cromossomos Humanos Par 2/genética , Análise Citogenética , Pai , Feminino , Humanos , Masculino , Mosaicismo , Medição da Translucência Nucal , Gravidez
8.
Am J Clin Oncol ; 40(3): 241-249, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25350466

RESUMO

PURPOSE: To define the optimal dose of paclitaxel combining cisplatin, as weekly neoadjuvant chemotherapy (NAC) for early-stage bulky squamous cell carcinoma of the uterine cervix. METHODS: A prospective trial was conducted for International Federation of Gynecology and Obstetrics stages IB2 and IIA2 cervical squamous cell carcinoma patients with magnetic resonance imaging or positron emission tomography-defined lymph node negative. Weekly fixed-dose cisplatin (40 mg/m) and 4-level dose escalation of paclitaxel (50, 60, 70, 80 mg/m) for 3 courses was given and followed by radical hysterectomy and pelvic lymph node dissection (RH-PLND) 14 to 28 days later. Postoperative adjuvant therapy was tailored according to pathologic response. RESULTS: No dose-limiting toxicity occurred. Twelve subjects were enrolled without reaching maximum tolerated dose, nor was any RH-PLND procedure delayed for >2 weeks. Pathologic response rate was 50% (complete in 2 and partial in 4). Paclitaxel dose level seemed unrelated to pathologic response. No subjects had grade ≥3 acute adverse events. Seven patients (58.3%) received postoperative radiotherapy or chemoradiation. Patients with human papillomavirus 16-negative tumor and aged 55 years and older had marginally higher risk (100%) of adjuvant radiotherapy or chemoradiation after NAC than those with human papillomavirus 16-positive or age less than 55 (P=0.081). With a median follow-up of 45.5 months, all 12 patients remained alive without disease. CONCLUSIONS: Weekly paclitaxel and cisplatin NAC for 3 courses can be tolerated with excellent short-term outcome. With the caveat of small number of patients, this study supports future phase II trials of weekly paclitaxel and cisplatin NAC for 4 to 5 cycles.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Carcinoma de Células Escamosas/terapia , Papillomavirus Humano 16 , Histerectomia , Excisão de Linfonodo , Infecções por Papillomavirus/complicações , Neoplasias do Colo do Útero/terapia , Adulto , Fatores Etários , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Carcinoma de Células Escamosas/diagnóstico por imagem , Carcinoma de Células Escamosas/patologia , Carcinoma de Células Escamosas/virologia , Quimiorradioterapia Adjuvante , Quimioterapia Adjuvante , Cisplatino/administração & dosagem , Cisplatino/efeitos adversos , Intervalo Livre de Doença , Feminino , Humanos , Linfonodos/diagnóstico por imagem , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Terapia Neoadjuvante , Estadiamento de Neoplasias , Paclitaxel/administração & dosagem , Paclitaxel/efeitos adversos , Infecções por Papillomavirus/virologia , Pelve , Tomografia por Emissão de Pósitrons , Estudos Prospectivos , Radioterapia Adjuvante , Carga Tumoral , Neoplasias do Colo do Útero/diagnóstico por imagem , Neoplasias do Colo do Útero/patologia , Neoplasias do Colo do Útero/virologia
9.
Oncotarget ; 7(51): 85529-85541, 2016 Dec 20.
Artigo em Inglês | MEDLINE | ID: mdl-27907908

RESUMO

Germline and somatic BRCA1/2 mutations define a subset of patients with ovarian cancer who may benefit from treatment with poly (ADP-ribose) polymerase inhibitors. Unfortunately, data on the frequency of BRCA1/2 germline mutations in Taiwanese patients with ovarian cancer are scarce, with the prevalence of somatic mutations being unknown. We aim to investigate the occurrence of BRCA1/2 mutations in 99 Taiwanese patients with ovarian cancer which included serous (n = 46), endometrioid (n = 24), and clear cell (n = 29) carcinomas. BRCA1/2 mutations were identified using next-generation sequencing of formalin-fixed paraffin-embedded tumor samples. Pathogenic variants (BRCA1: n = 7; BRCA2: n = 6) were detected in 12.1% (12/99) of the study patients. Somatic and germline BRCA1/2 mutation rates in serous ovarian cancer are 4/46 (8.7%) and 8/46 (17%), respectively. All of the pathogenic BRCA1/2 mutations were identified in serous carcinoma samples (12/46; 26.1%). One-third (4/12) of the deleterious BRCA1/2 mutations occurred in tumor tissues only (somatic mutations). All of them coexisted with loss of heterozygosity, resulting in biallelic BRCA inactivation. Five novel pathogenic mutations were identified, including four somatic variants (BRCA1 p.S242fs, BRCA1 p.F989fs, BRCA1 p.G1738fs, and BRCA2 p.D1451fs) and a germline variant (BRCA2 p.E260fs). We also detected additional six novel mutations (three in BRCA1 and three in BRCA2) with pathogenic potentials. We conclude that BRCA1/2 mutations are common in Taiwanese patients with serous ovarian carcinoma and similar to mutation rates in other ethnic groups. The analysis of BRCA1/2 somatic mutations is crucial for guiding therapeutic decisions in ovarian cancer.


Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Mutação em Linhagem Germinativa , Neoplasias Ovarianas/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Povo Asiático/genética , Biópsia , Análise Mutacional de DNA/métodos , Feminino , Fixadores/química , Formaldeído/química , Predisposição Genética para Doença , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Perda de Heterozigosidade , Pessoa de Meia-Idade , Epidemiologia Molecular , Neoplasias Ovarianas/etnologia , Neoplasias Ovarianas/patologia , Inclusão em Parafina , Fenótipo , Fatores de Risco , Taiwan/epidemiologia , Fixação de Tecidos , Adulto Jovem
10.
Ann Clin Lab Sci ; 34(3): 319-23, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15487707

RESUMO

Trisomy 21 is the most common chromosomal aberration in live births. In this study we employed human chromosome 21-specific short tandem repeat (STR) DNA markers to determine the numbers of chromosome 21 present in fetal cells. Forty amniotic fluid samples from pregnancies complicated with fetal Down syndrome and 98 samples from euploid pregnancies were analyzed for D21S11 and interferon-alpha receptor (IFNAR) gene intervening sequence. Fluorescent dye-labeled primers were used in PCR amplification of these 2 markers. The PCR amplicon was analyzed with an automatic DNA sequence analyzer. The results showed that 35 of 40 fetal Down syndrome samples analyzed for IFNAR showed 3 distinct peaks, while 24 of 30 cases analyzed for D21S11 showed 3 distinct peaks. Two Down syndrome samples showed two uneven peaks. By analyzing 98 euploid pregnancies as controls, the ratios of area under the peaks were determined to be 1.31 +/- 0.22 and 1.96 +/- 0.18 (mean +/- SD) for the euploid pregnancies and pregnancies complicated by fetal Down syndrome with 2 peaks, respectively. Our data showed that altogether 39 of 40 (97.5%) Down syndrome cases were correctly identified based on either the 3-peak pattern in one or more of the DNA markers or the relative peak area ratio calculation. In conclusion, polymorphic STR DNA markers are useful for determining the numbers of chromosome 21 in fetal cells. The high sensitivity and automation of the procedures suggest a good prospect for use of this method in prenatal detection of fetal Down syndrome. However, this is a preliminary investigation and a large-scale study is necessary to validate the clinical application of this protocol.


Assuntos
Cromossomos Humanos Par 21/genética , Síndrome de Down/diagnóstico , Diagnóstico Pré-Natal/métodos , Adulto , Líquido Amniótico/química , DNA/análise , Síndrome de Down/genética , Feminino , Marcadores Genéticos , Humanos , Repetições de Microssatélites , Reação em Cadeia da Polimerase , Gravidez , Receptor de Interferon alfa e beta , Receptores de Interferon/genética
11.
Ann Clin Lab Sci ; 34(2): 154-8, 2004.
Artigo em Inglês | MEDLINE | ID: mdl-15228227

RESUMO

Clinical features of Peutz-Jeghers syndrome (PJS), an autosomal dominant disorder, include clusters of melanotic spots on the lips and limbs, polyposis of the gastrointestinal (GI) tract, and propensity to develop neoplasms of the GI tract, ovaries, testes, and other sites. We report twin sisters with PJS who were found to be homozygous, based on analyses of 9 DNA markers containing short tandem repeats (STR). Aberrant expression of a putative tumor suppressor gene, STK11, which encodes a serine threonine kinase, has been suggested as the etiologic factor in PJS. In both of the twin sisters with PJS, mRNA analyses by RT-PCR demonstrated a complete lack of STK11 gene expression. These results provide direct evidence that STK11 gene expression is abnormal in PJS. Detecting abnormal expression of the STK11 gene may serve as a molecular approach to the diagnosis of PJS and may facilitate genotype-phenotype correlations in PJS patients.


Assuntos
Doenças em Gêmeos/genética , Síndrome de Peutz-Jeghers/genética , Proteínas Serina-Treonina Quinases/genética , Quinases Proteína-Quinases Ativadas por AMP , Adulto , Doenças em Gêmeos/diagnóstico , Doenças em Gêmeos/enzimologia , Feminino , Expressão Gênica , Marcadores Genéticos , Homozigoto , Humanos , Perda de Heterozigosidade , Síndrome de Peutz-Jeghers/diagnóstico , Síndrome de Peutz-Jeghers/enzimologia , Proteínas Serina-Treonina Quinases/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Gêmeos Monozigóticos/genética
12.
Taiwan J Obstet Gynecol ; 53(2): 220-3, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25017271

RESUMO

OBJECTIVE: Patients with a rare rupture of endometriomas may require surgery. In this retrospective study, we assessed the outcomes of surgical interventions for ruptured ovarian endometriomas. MATERIALS AND METHODS: Forty-three patients who underwent surgical intervention for ruptured ovarian endometriomas were studied. Depending on the latency to surgery and endometrioma recurrence, patients were divided into two groups, and then compared with respect to patient profiles, intraoperative findings, and outcomes. RESULTS: Thirty-one of the 43 patients had a known ovarian endometrioma with an average diameter of 6.04 cm. Seventeen (39.5%) patients had a recurrent ovarian tumor during the postoperative follow up. Patients who underwent surgery within 72 hours or after 72 hours showed no difference in baseline characteristics and most clinical outcomes, except for the choice of surgery (p = 0.003) and future fertility (p = 0.005). CONCLUSION: Comprehensive and early surgical intervention after endometrioma rupture can assist in excluding ovarian malignancy and can reduce the effects of cyst fluids, prevent adhesions, and preserve fertility.


Assuntos
Endometriose/cirurgia , Doenças Ovarianas/cirurgia , Adulto , Intervalo Livre de Doença , Endometriose/patologia , Feminino , Procedimentos Cirúrgicos em Ginecologia/métodos , Humanos , Laparoscopia , Doenças Ovarianas/patologia , Recidiva , Estudos Retrospectivos , Ruptura Espontânea/cirurgia , Fatores de Tempo , Adulto Jovem
14.
Taiwan J Obstet Gynecol ; 52(1): 71-6, 2013 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23548222

RESUMO

OBJECTIVE: It has been suggested that periodontal disease is an important risk factor for preterm low birth weight (PLBW). The purpose of this study was to determine the association of maternal periodontitis with low birth weight (LBW) and preterm birth (PB). MATERIALS AND METHODS: Pregnant women (n = 211) aged 22-40 years were enrolled while receiving prenatal care. Dental plaque, probing depth, bleeding on probing, and clinical attachment level were used as criteria to classify three groups: a healthy group (HG; n = 82), a gingivitis group (GG; n = 67), and a periodontitis group (PG; n = 62). At delivery, birth weight was recorded. RESULTS: Mean infant weight at delivery was 3084.9 g. The total incidence of preterm birth and LBW infants was 10.4% and 8.1%, respectively. The incidence of LBW infants was 4.2% for term and 40.9% for preterm gestations. Maternal height was not correlated with infant birth weight (p = 0.245). Significant differences in mean infant birth weight were observed among the HG, GG, and PG groups (p = 0.030). No significant relationship was found between periodontal disease and PB, but the association between periodontal disease and LBW was significant. CONCLUSION: After appropriately controlling for confounding variables, our results do not support the hypothesis of an association that was observed in previous studies of maternal periodontal disease and infant PB, but the association between periodontal disease and LBW is significant.


Assuntos
Gengivite/complicações , Recém-Nascido de Baixo Peso , Periodontite/complicações , Nascimento Prematuro/etiologia , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Incidência , Recém-Nascido , Gravidez , Nascimento Prematuro/epidemiologia , Fatores de Risco , Adulto Jovem
15.
Eur J Cancer ; 49(3): 633-41, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23031554

RESUMO

BACKGROUND: Our aims were to evaluate the genotype distribution of human papillomavirus (HPV) and the correlation between HPV parameters and clinicopathological/treatment variables with prognosis in cervical adeno-adenosquamous carcinoma (AD/ASC). PATIENTS AND METHODS: Consecutive patients who received primary treatment for cervical AD/ASC International Federation of Gynecology and Obstetrics (FIGO) stages I-IV between 1993 and 2008 were retrospectively reviewed. Prognostic models were constructed and followed by internal validation with bootstrap resampling. RESULTS: A total of 456 AD/ASC patients were eligible for HPV genotyping, while 452 were eligible for survival analysis. HPV18 was detected in 51.5% and HPV16 in 36.2% of the samples. Age >50 years old, FIGO stages III-IV and HPV16-negativity were significantly related to cancer relapse, and age >50, FIGO stages III-IV, HPV16-negativity and HPV58-positivity were significant predictors for cancer-specific survival (CSS) by multivariate analyses. HPV16-positivity was also significantly associated with good prognosis in those receiving primary radiotherapy or concurrent chemoradiation (RT/CCRT) (CSS: hazard ratio 0.41, 95% confidence interval 0.21-0.78). Patients with FIGO stages I-II and HPV16-negative AD/ASC treated with primary RH-PLND had significantly better CSS (p<0.0001) than those treated with RT/CCRT. CONCLUSIONS: Age >50 years old, FIGO stages III-IV and HPV16-negativity were significant poor prognostic factors in cervical AD/ASC. Patients with HPV16-negative tumour might better be treated with primary surgery (e.g. radical hysterectomy for stages I-II and pelvic exenteration for stage IVA). Those with unresectable HPV16-negative tumour (stage IIIB) should undergo CCRT in combination with novel drugs. The inferences of a single-institutional retrospective study require prospective studies to confirm.


Assuntos
Carcinoma Adenoescamoso/virologia , Papillomaviridae/classificação , Neoplasias do Colo do Útero/virologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Carcinoma Adenoescamoso/patologia , DNA Viral/análise , Feminino , Genótipo , Papillomavirus Humano 16/isolamento & purificação , Papillomavirus Humano 18/isolamento & purificação , Humanos , Pessoa de Meia-Idade , Análise Multivariada , Estadiamento de Neoplasias , Papillomaviridae/genética , Neoplasias do Colo do Útero/patologia
16.
Int J Gynaecol Obstet ; 113(3): 211-4, 2011 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-21458814

RESUMO

OBJECTIVE: To report the incidence, prenatal diagnostic rate, and postnatal outcomes of fetal orofacial cleft at a tertiary referral center in Taiwan. METHODS: The demographic data, maternal and fetal characteristics, and postnatal outcomes for fetuses with cleft lip and/or cleft palate (CL/P) born between January 1998 and December 2008 at Chang Gung Memorial Hospital, Taipei, were reviewed retrospectively, and diagnostic rates were evaluated according to cleft type. RESULTS: Among 26499 deliveries, 84 were affected with CL/P. The mean maternal age and gestational age at detection of CL/P were 30.37 years (range 21-41 years) and 24.7 weeks (range 18-33 weeks), respectively. Thirty-one fetuses had associated structural anomalies, 5 of which involved chromosomal aberrations. CL/P was diagnosed prenatally for 74 (88%) fetuses. After consultations, 17 pregnancies (20%) were aborted. The postnatal survival rate was 95.5% (64/67 infants). The type of cleft had a significant influence on correct prenatal diagnosis (P<0.001). CONCLUSION: For fetuses diagnosed prenatally with an orofacial cleft, access to an experienced craniofacial team, well-planned delivery, and pediatric intensive care led to favorable postnatal outcomes after lethal malformations were excluded through detailed sonographic and chromosomal evaluations.


Assuntos
Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Resultado da Gravidez/epidemiologia , Diagnóstico Pré-Natal/estatística & dados numéricos , Aborto Induzido/estatística & dados numéricos , Adulto , Fenda Labial/epidemiologia , Fenda Labial/genética , Fissura Palatina/epidemiologia , Fissura Palatina/genética , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Estudos Retrospectivos , Taiwan/epidemiologia
17.
Taiwan J Obstet Gynecol ; 50(3): 306-11, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22030044

RESUMO

OBJECTIVE: Approximately 4% of women are admitted to hospitals because of ovarian cyst rupture, hemorrhage, or torsion. Endometriotic cyst rupture is a rare surgical emergency associated with severe peritonitis and pelvic adhesion, and we aimed to determine its prognosis and long-term outcome. MATERIALS AND METHODS: We reviewed and analyzed the medical records of 11 patients (mean age, 31.8 ± 7.2 years) with ruptured endometrioma and a history of dysmenorrhea (4.9 ± 2.3 of maximum 10) who were surgically treated, and then regularly followed-up for more than 3 years (range, 35-261 months). RESULTS: Previous ultrasound examinations revealed pelvic cysts in seven patients. Three patients had a history of endometrioma surgery. In the emergency room, eight patients complained of uterine motion tenderness. Sonography revealed residual ovarian tumors (size range, 4.2-10.4 cm), with or without fluid accumulation in the cul-de-sac. Surgical enucleation by laparoscopy or laparotomy revealed high revised American Fertility Society endometriosis scores (78 ± 20.1) as well as high adhesion scores (48.7 ± 11.3). In the postoperative period, four patients had recurrent ovarian tumors that were related to elevated serum cancer antigen 125 levels and high postoperative pain scores. In contrast, three patients who became pregnant during the postoperative period had low serum cancer antigen 125 levels and pain scores. CONCLUSION: Endometrioma rupture should be considered in females presenting with sudden lower abdominal pain, associated with a history of dysmenorrhea and preexisting pelvic cysts. Emergency surgical intervention may lead to a better prognosis, particularly in patients without a history of previous endometrioma surgery.


Assuntos
Endometriose/cirurgia , Cistos Ovarianos/cirurgia , Peritonite/cirurgia , Dor Abdominal/diagnóstico por imagem , Dor Abdominal/etiologia , Dor Abdominal/cirurgia , Doença Aguda , Adulto , Endometriose/complicações , Endometriose/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Laparotomia , Cistos Ovarianos/diagnóstico por imagem , Cistos Ovarianos/etiologia , Peritonite/diagnóstico por imagem , Peritonite/etiologia , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/terapia , Prognóstico , Recidiva , Ruptura Espontânea , Resultado do Tratamento , Ultrassonografia , Adulto Jovem
18.
Eur J Obstet Gynecol Reprod Biol ; 148(1): 21-6, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19773110

RESUMO

OBJECTIVE: To investigate (1) whether there is an increasing trend in the mean maternal age at the birth of the first child and in the group of women giving birth at age 35 or older, and (2) the association between advanced maternal age and adverse perinatal outcomes in an Asian population. STUDY DESIGN: We conducted a retrospective cohort study involving 39,763 Taiwanese women who delivered after 24 weeks of gestation between July 1990 and December 2003. Multivariable logistic regression was used to adjust for potential confounding variables. RESULTS: During the study period, the mean maternal age at the birth of the first child increased from 28.0 to 29.7 years, and the proportion of women giving birth at age 35 or older increased from 11.4% to 19.1%. Compared to women aged 20-34 years, women giving birth at age 35 or older carried a nearly 1.5-fold increased risk for pregnancy complications and a 1.6-2.6-fold increased risk for adverse perinatal outcomes. After adjusting for the confounding effects of maternal characteristics and coexisting pregnancy complications, women aged 35-39 years were at increased risk for operative vaginal delivery (adjusted odds ratio [OR] 1.5, 95% confidence interval [CI] 1.2-1.7) and cesarean delivery (adjusted OR 1.6, 95% CI 1.5-1.7), while women aged 40 years and older were at increased risk for preterm delivery (before 37 weeks of gestation) (adjusted OR 1.7, 95% CI 1.3-2.2), operative vaginal delivery (adjusted OR 3.1, 95% CI 2.0-4.6), and cesarean delivery (adjusted OR 2.6, 95% CI 2.2-3.1). In those women who had a completely uncomplicated pregnancy and a normal vaginal delivery, advanced maternal age was still significantly associated with early preterm delivery (before 34 weeks of gestation), a birth weight <1500 g, low Apgar scores, fetal demise, and neonatal death. CONCLUSION: In this population of Taiwanese women, there is an increasing trend in the mean maternal age at the birth of the first child. Furthermore, advanced maternal age is independently associated with specific adverse perinatal outcomes.


Assuntos
Idade Materna , Complicações na Gravidez/epidemiologia , Resultado da Gravidez , Adulto , Povo Asiático/estatística & dados numéricos , Cesárea , Feminino , Humanos , Pessoa de Meia-Idade , Gravidez , Nascimento Prematuro , Taiwan/epidemiologia
20.
Chang Gung Med J ; 28(4): 222-8, 2005 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-16013341

RESUMO

BACKGROUND: Polyhydramnios carries a high rate of complications during pregnancy and adverse perinatal outcomes. We could find no studies of this condition in a large Asian population. The aim of this investigation was to evaluate the risks of adverse perinatal outcomes in a large study population with polyhydramnios without associated fetal anomalies after the gestational age of 20 weeks in Taiwan. METHODS: We retrospectively reviewed the computerized records of women who had babies without associated fetal anomalies after the gestational age of 20 weeks at Chang Gung Memorial Hospital from July 1990 to December 2001. Possible confounding factors that could affect the occurrence of polyhydramnios were analyzed. We then investigated the relative risks of these events to adverse perinatal outcome by adjusting the variants. RESULTS: Significantly higher incidences of preeclampsia, placental abruption, placenta accreta, past history of fetal death or preterm delivery, multiple pregnancy, bodyweight gain > or = 20kg during pregnancy and primiparity were noted in patients with polyhydramnios than in patients without this condition. The presence of polyhydramnios significantly increased the rate of preterm delivery, low birth weight or very low birth weight, low one- and five-minute Apgar scores, fetal death, large for gestational age babies, meconium-stained amniotic fluid, Cesarean section, fetal distress in labor, NICU transfer and neonatal death. CONCLUSIONS: Polyhydramnios carried a higher incidence of adverse perinatal outcomes, such as low Apgar scores, fetal death, fetal distress in labor, NICU transfer and neonatal death, despite exclusion of congenital anomalies from the study population. Detailed antepartum fetal well-being surveillance, intensive intrapartum monitoring and further attention postpartum are warranted in patients with this condition.


Assuntos
Poli-Hidrâmnios/complicações , Índice de Apgar , Peso ao Nascer , Feminino , Morte Fetal/etiologia , Idade Gestacional , Humanos , Recém-Nascido , Recém-Nascido Pequeno para a Idade Gestacional , Trabalho de Parto Prematuro/etiologia , Gravidez , Estudos Retrospectivos
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