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1.
Menopause ; 2021 Feb 22.
Artigo em Inglês | MEDLINE | ID: mdl-33625108

RESUMO

OBJECTIVE: To evaluate the 5-year pessary continuation rate and identify clinical risk factors associated with discontinuation in patients with symptomatic pelvic organ prolapse (POP). METHODS: In this prospective observational study, 312 women with symptomatic POP received pessary treatment between November 2013 and July 2015 in Peking Union Medical College Hospital, China, a tertiary referral center. Patients were initially fitted with a ring pessary with support. Those who failed were fitted with a Gellhorn pessary. A successful pessary fitting was defined as a patient who was fitted and continued to use the pessary 2 weeks later. Patients with successful pessary fitting were followed for 5 years. Data analysis was performed with t tests, nonparametric tests, chi-square tests, and logistic regression. RESULTS: In total, 265 patients (84.9%) had successful pessary fitting. After 5 years, 180 of 239 patients continued pessary use (75.3% continuation rate), with 26 lost to follow-up. The discontinuation rates decreased over time, from 8.7% at 1 year to 2.7% at 5 years. Total vaginal length < 7.5 cm (TVL, OR = 2.7, 95% CI 1.3-5.7, P = 0.007), improvement in Urinary Impact Questionnaire-7 scores < 50% at 3 months (OR = 2.1, 95% CI 1.1-4.2, P = 0.025), and incapability of self-care (OR = 2.6, 95% CI 1.3-5.1, P = 0.008) were potential discontinuation risk factors. CONCLUSION: Three-quarters of patients with symptomatic POP had successful pessary treatment at 5-year follow-up. TVL < 7.5 cm, poor urinary symptom relief at 3 months, and incapability of self-care were potential discontinuation risk factors.

2.
Am J Hum Genet ; 108(2): 337-345, 2021 02 04.
Artigo em Inglês | MEDLINE | ID: mdl-33434492

RESUMO

Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is associated with congenital absence of the uterus, cervix, and the upper part of the vagina; it is a sex-limited trait. Disrupted development of the Müllerian ducts (MD)/Wölffian ducts (WD) through multifactorial mechanisms has been proposed to underlie MRKHS. In this study, exome sequencing (ES) was performed on a Chinese discovery cohort (442 affected subjects and 941 female control subjects) and a replication MRKHS cohort (150 affected subjects of mixed ethnicity from North America, South America, and Europe). Phenotypic follow-up of the female reproductive system was performed on an additional cohort of PAX8-associated congenital hypothyroidism (CH) (n = 5, Chinese). By analyzing 19 candidate genes essential for MD/WD development, we identified 12 likely gene-disrupting (LGD) variants in 7 genes: PAX8 (n = 4), BMP4 (n = 2), BMP7 (n = 2), TBX6 (n = 1), HOXA10 (n = 1), EMX2 (n = 1), and WNT9B (n = 1), while LGD variants in these genes were not detected in control samples (p = 1.27E-06). Interestingly, a sex-limited penetrance with paternal inheritance was observed in multiple families. One additional PAX8 LGD variant from the replication cohort and two missense variants from both cohorts were revealed to cause loss-of-function of the protein. From the PAX8-associated CH cohort, we identified one individual presenting a syndromic condition characterized by CH and MRKHS (CH-MRKHS). Our study demonstrates the comprehensive utilization of knowledge from developmental biology toward elucidating genetic perturbations, i.e., rare pathogenic alleles involving the same loci, contributing to human birth defects.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual/genética , Anormalidades Congênitas/genética , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/crescimento & desenvolvimento , Mutação , Ductos Mesonéfricos/crescimento & desenvolvimento , Adulto , Proteína Morfogenética Óssea 4/genética , Proteína Morfogenética Óssea 7/genética , Códon sem Sentido , Feminino , Estudos de Associação Genética , Pleiotropia Genética , Proteínas Homeobox A10/genética , Proteínas de Homeodomínio/genética , Humanos , Fator de Transcrição PAX8/genética , Herança Paterna , Penetrância , Proteínas com Domínio T/genética , Fatores de Transcrição/genética , Proteínas Wnt/genética , Ductos Mesonéfricos/anormalidades
3.
Artigo em Inglês | MEDLINE | ID: mdl-33321256

RESUMO

STUDY OBJECTIVE: To study the long-term outcomes of laparoscopically assisted uterovaginal canalization and vaginoplasty in patients with congenital cervical and vaginal atresia and to introduce the surgery step by step. DESIGN: A prospective observational study from January 2016 to September 2019. SETTING: A tertiary teaching hospital. PATIENTS: Ten women diagnosed with congenital cervical and vaginal atresia. INTERVENTIONS: All women underwent laparoscopically assisted uterovaginal canalization and vaginoplasty. MEASUREMENTS AND MAIN RESULTS: All procedures went smoothly, with no case requiring conversion to laparotomy, and no intraoperative complications occurred. Postoperative febrile morbidity occurred in 1 patient (1/10, 10%). The median (interquartile range) follow-up time was 26.0 (21.3, 48.3) months. All patients resumed menstruation, including 9 patients (9/10, 90%) with regular monthly menstruation. Eight patients (8/10, 80%) experienced mild to moderate dysmenorrhea; the remaining 2 patients (2/10, 20%) had no dysmenorrhea. Cervical restenosis occurred in 1 patient (1/10, 10%) 12 months postoperatively, and cervical dilation was performed. So far, 8 months after the second surgery, no restenosis has been found. The mean postoperative vaginal length was 7.9 ± 1.3-cm at the time of the last follow-up. Only 1 patient attempted to conceive for 2 years, but she had not conceived yet. CONCLUSION: Laparoscopically assisted uterovaginal canalization and vaginoplasty is an easy, safe, and promising management option for correcting congenital cervical and vaginal atresia.

4.
Eur J Obstet Gynecol Reprod Biol ; 259: 12-17, 2020 Nov 11.
Artigo em Inglês | MEDLINE | ID: mdl-33550106

RESUMO

OBJECTIVE: The aim was to evaluate the voiding function and voiding dysfunction 3 months after laparoscopic uterosacral ligament suspension (LUSLS). We identified risk factors for postoperative voiding dysfunction. STUDY DESIGN: This retrospective study included 57 women with apical prolapse who underwent LUSLS with stage II or greater apical prolapse and without advanced anterior vaginal prolapse (stage III or IV). Data were collected from electronic medical records. Voiding function was assessed by uroflowmetry, PVR examination, and self-report questionnaires (the Pelvic Floor Distress Inventory-20 and the Urinary Impact Questionnaire) at baseline and 3 months after surgery. Voiding dysfunction was defined as an average flow rate (Qave)<10 ml/s, a maximum flow rate (Qmax)<15 ml/s, or a postvoid residual volume (PVR)>50 ml. Statistical analyses were performed using paired-sample t tests, χ2 tests, and multivariate logistic regression. RESULTS: Thirty-five percent of women suffered from voiding dysfunction preoperatively. Uroflowmetry parameters and PVR, objective symptoms including voiding difficulties, incomplete empty, frequency and urinary incontinence didn't show significant improvement postoperatively (all p>0.05). Low Qave was identified as an independent risk factor of post voiding dysfunction (odds ratio, 0.558; 95 % CI, 0.324-0.963). CONCLUSIONS: Approximately one-third of women suffering from apical prolapse without advanced anterior vaginal wall had evidence of voiding dysfunction preoperatively. LUSLS has no obvious effect on uroflowmetry parameters and clinical symptoms.

5.
Lipids Health Dis ; 16(1): 219, 2017 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-29157280

RESUMO

The safety of progestogens as a class has drawn much attention after the publication of data from the Women's Health Initiative (WHI) trial, particularly with respect to cardiovascular disease. Depending on the chemical structure, pharmacokinetics, receptor affinity and potency of action, progestogens have a divergent range of properties that may translate to very different clinical effects. The purpose of this review is to describe the role of varied progestogens in hormone replacement therapy (HRT), especially focusing on blood lipids, which are the most important parameters for assessing cardiovascular disease risk.


Assuntos
Terapia de Reposição Hormonal , Lipídeos/sangue , Progesterona/farmacologia , Feminino , Humanos
6.
Med Sci Monit ; 22: 3140-6, 2016 Sep 05.
Artigo em Inglês | MEDLINE | ID: mdl-27593081

RESUMO

BACKGROUND The aim of the study was to assess whether HIF-1α polymorphisms have an effect on the response to chemotherapy of locally advanced cervical cancer (LACC) patients treated with platinum-based neoadjuvant chemotherapy (NACT) and radical surgery. MATERIAL AND METHODS We conducted a retrospective study in 162 LACC patients. Hypoxia-inducible factor 1α C1772T and G1790A genetic polymorphisms were ascertained using direct sequencing methods. RESULTS The C1772T polymorphism was significantly related to response to chemotherapy (P=0.002), and there was an increased chance of treatment response in patients with the C/C genotype (OR=4.7; 95% CI: 1.67-13.49; P=0.004). The C1772T polymorphism was also associated with poor tumor grade (adjusted OR, 2.98; 95% CI: 1.08-8.13; P=0.037). However, The G1790A polymorphism was not associated with response (P>0.05). CONCLUSIONS The C1772T polymorphism was significantly related to response to chemotherapy and poor tumor grade. Our results may help to better manage individual patients and to improve clinical decision making regarding use of NACT.


Assuntos
Subunidade alfa do Fator 1 Induzível por Hipóxia/genética , Neoplasias do Colo do Útero/tratamento farmacológico , Neoplasias do Colo do Útero/genética , Adulto , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Biomarcadores Farmacológicos , Quimioterapia Adjuvante , Cisplatino/administração & dosagem , Feminino , Estudos de Associação Genética , Humanos , Subunidade alfa do Fator 1 Induzível por Hipóxia/metabolismo , Pessoa de Meia-Idade , Terapia Neoadjuvante , Paclitaxel/administração & dosagem , Polimorfismo de Nucleotídeo Único , Estudos Retrospectivos , Neoplasias do Colo do Útero/diagnóstico por imagem , Neoplasias do Colo do Útero/metabolismo
7.
PLoS One ; 11(7): e0158787, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27438047

RESUMO

Clinical trials have provided conflicting results regarding whether epidermal growth factor receptor (EGFR) overexpression predicts poor survival in cervical cancer patients. In this study, we perform a meta-analysis of the association between EGFR expression and survival in cervical cancer patients. We searched clinical studies in the Medline, PubMed, Embase, and Web of Science databases. A total of 22 studies with 2,505 patients were included, and pooled hazard ratios (HRs) with 95% confidence intervals (CIs) were calculated for each study. Heterogeneity was assessed using Higgins I2 to select a Mantel-Haenszel fixed effects model (I2 ≤50%) or a DerSimonian-Laird random effects model (I2 ≥50%). High EGFR levels predicted poor overall survival (OS) (HR: 1.40, 95% CI: 1.10-1.78) and disease-free survival (DFS) (HR: 1.84, 95% CI: 1.51-2.24). Stratified analyses showed that EGFR overexpression was significantly related to poor DFS in patients treated with chemoradiation or surgery. Moreover, the pooled odds ratios (ORs) revealed associations between EGFR expression and clinicopathological features, such as lymph node metastasis (OR: 1.72, 95% CI: 1.23-2.40) and tumor size ≥4 cm (OR: 1.64, 95% CI: 1.20-2.23). This meta-analysis demonstrates that EGFR overexpression is closely associated with reduced survival in patients with cervical cancer. These results may facilitate the individualized management of clinical decisions for anti-EGFR therapies in cervical cancer patients.


Assuntos
Carcinoma de Células Escamosas/genética , Receptores ErbB/genética , Prognóstico , Neoplasias do Colo do Útero/genética , Anticorpos Monoclonais/imunologia , Anticorpos Monoclonais/uso terapêutico , Carcinoma de Células Escamosas/tratamento farmacológico , Carcinoma de Células Escamosas/mortalidade , Carcinoma de Células Escamosas/cirurgia , Intervalo Livre de Doença , Receptores ErbB/uso terapêutico , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Metástase Linfática , Neoplasias do Colo do Útero/tratamento farmacológico , Neoplasias do Colo do Útero/mortalidade , Neoplasias do Colo do Útero/cirurgia
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