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1.
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
2.
Sci Total Environ ; 724: 138130, 2020 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-32408436

RESUMO

China has proposed to use ethanol instead of methyl tert-butyl ether (MTBE) as a gasoline additive, with full compliance planned for 2020. At present, previous studies on gasoline additive focus almost exclusively on effects of fuel performance and engine, however, the environmental impact production and use of additives cannot be ignored. Herein, we use the life cycle assessment (LCA) method, the environmental effects of E10 (10% maize ethanol and 90% gasoline, v/v) and M10 (10% MTBE and 90% gasoline, v/v) were evaluated and compared. Quantifying the net environmental benefits of implementing this national policy from a life cycle perspective. The results showed that the environmental impact of E10 was 15.4% lower than that of M10. Thus, replacing MTBE with ethanol reduces the total environmental impact. However, there were some negative environmental impacts such as waste solids and water use. Finally, we propose further improvements to make E10 more environmentally friendly.

3.
J Minim Invasive Gynecol ; 27(7): 1465-1466, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32259653
4.
Artigo em Inglês | MEDLINE | ID: mdl-31517310

RESUMO

Objective: The aim of this study was to use whole genome sequencing (WGS) help detect de novo mutations or pathogenic genes of Mayer-Rokitansky-Küster-Hauser syndrome type 1(MRKH syndrome type 1). Study design: This was a case-parent trios study. Nine unrelated probands, with MRKH syndrome type 1 and their parents were enrolled. The enrollment, sequencing process, establishment of the de novo mutations detecting procedure and experiment part were performed over a 2-year period. Results: we detected 632 de novo single nucleotide variants (SNVs), 267 de novo small insertions/deletions (indels), 39 de novo structural variations (SVs) and 28 de novo copy number alterations (CNAs). Three novel damaging coding de novo SNVs with three damaging coding de novo genes (PIK3CD, SLC4A10 and TNK2) were revealed. Two SNVs were annotated of the promoter region of gene NBPF10 and 3'UTR of NOTCH2NL, potentially contributing to the pathogenesis of MRKH. Conclusion: We identified five de novo mutations in BAZ2B, KLHL18, PIK3CD, SLC4A10 and TNK2 by performing WGS, the functional involvement of all deleterious mutations in MRKH candidate genes of the trios warrant further study. WGS may complement conventional array to capture the complete landscape of the genome in MRKH.

5.
Sci Rep ; 9(1): 8482, 2019 06 11.
Artigo em Inglês | MEDLINE | ID: mdl-31186444

RESUMO

To investigate the artificial vaginal microecological features in patients who underwent laparoscopic peritoneal vaginoplasty. 54 cases of patients with artificial vagina after laparoscopic peritoneal vaginoplasty were included in this study. Microecosystem evaluation was performed. Artificial vaginal functional tests and biopsy from vaginal walls were performed. After laparoscopic peritoneal vaginoplasty, the artificial vaginal flora intensity was level II∼III (88.9%); the vaginal flora diversity was level II∼III (72.2%); the predominant vaginal bacteria were gram-positive macrobacillus (27.8%); approximately 57.4% of the patients had vaginal pH ≤ 4.5; there was no pathogenic bateria or other pathogens; dysbiosis accounted for 53.7% of the patients (64.5% of the patients who had the vaginoplasty operation less than 2 years ago exhibited dysbiosis; 39.1% of the patients who had the operation at least 2 years ago exhibited dysbiosis). Vaginal dysbiosis is common after laparoscopic peritoneal vaginoplasty. However, as time goes by, the artificial vaginal microecological condition gradually becomes normal. Evaluation of vaginal microenvironment after laparoscopic peritoneal vaginoplasty might play an important role in reproductive tract infection prevention and neovagina health care.


Assuntos
Procedimentos Cirúrgicos em Ginecologia , Laparoscopia , Peritônio/cirurgia , Vagina/microbiologia , Adolescente , Adulto , Disbiose/etiologia , Feminino , Procedimentos Cirúrgicos em Ginecologia/efeitos adversos , Humanos , Concentração de Íons de Hidrogênio , Laparoscopia/efeitos adversos , Período Pós-Operatório , Adulto Jovem
6.
Oncol Rep ; 41(2): 1045-1050, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30535474

RESUMO

Ovarian cancer is the leading cause of cancer­ associated mortality in the female reproductive system. Interleukin (IL)­33 and its receptor IL 1 receptor like 1 (also termed ST2) are expressed by many cell types including epithelial cells. The role of IL­33 in the pathogenesis of neoplasia remains controversial. The authors previously demonstrated that IL­33 inhibits the growth of pancreatic cancer cells. The present study was performed to explore if IL­33 has any direct effects on ovarian cancer cells. A clonogenic survival assay, immunohistochemistry (IHC), proliferation kit and caspase­3 activity kit were all used to evaluate the direct effects of IL­33 on cell proliferation and apoptosis of a widely studied ovarian cancer cell line, A2780. The possible molecular mechanisms were further evaluated with reverse transcription­polymerase chain reaction and IHC. It was demonstrated that the percentage of colonies and the optical density value of cancer cells were all increased in the presence of IL­33; however, the relative caspase­3 activity in cancer cells was decreased in the presence of IL­33. Molecular mechanism studies revealed that the pro­proliferative effect of IL­33 on cancer cells was associated with decreased levels of p27, and the anti­apoptotic effect of IL­33 was associated with levels of Fas cell surface death receptor (Fas) and tumor necrosis factor­related apoptosis­inducing ligand receptor 1 (TRAILR1). Therefore, IL­33 promoted proliferation and inhibited apoptosis of ovarian cancer cells by downregulation of p27, Fas and TRAILR1. Contrary to previous studies demonstrating an anti­tumor effort in pancreatic cancer, the results of the present study indicated that IL­33 exhibited a significant onco­promoting effect on ovarian cancer. Accordingly, the inhibition of IL­33 may be a promising therapeutic strategy for ovarian cancer.


Assuntos
Interleucina-33/metabolismo , Neoplasias Ovarianas/patologia , Apoptose , Linhagem Celular Tumoral , Proliferação de Células , Inibidor de Quinase Dependente de Ciclina p27/metabolismo , Regulação para Baixo , Feminino , Humanos , Receptor Ativador de Fator Nuclear kappa-B/metabolismo , Receptores do Ligante Indutor de Apoptose Relacionado a TNF/metabolismo , Receptor fas/metabolismo
7.
Oncol Lett ; 16(1): 769-774, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29963144

RESUMO

Interleukin-33 (IL-33), a damage-associated molecular pattern molecule, is a cytokine within the IL-1 interleukin family that binds to the plasma membrane receptor suppression of tumorigenicity 2 on numerous cell types. IL-33 has been extensively studied in its role in autoimmune diseases, host responses to pathogens and allergens, and has been associated with tumorigenic effects in cancer research. The present study was performed to investigate the effects of IL-33 on colon cancer cells, based off the previous data that have demonstrated an anti-tumor effect of IL-33 on pancreatic cancer cells. The effects of IL-33 on proliferation, cell survival and apoptosis on human HCT-116 colon cancer cells were examined using clonogenic survival assays, proliferation and caspase-3 activity kits, terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling staining and immunocytochemistry. It was determined that the HCT-116 cells demonstrated an notable decrease in optical density value upon incubation with IL-33, along with a decrease in the number of colonies, compared with the controls. It was further determined that the anti-proliferative effect of IL-33 on HCT-116 cells was associated with downregulation of the pro-proliferative molecules cyclin B, cyclin D and cyclin dependent kinase 2. An apoptosis-inducing effect of IL-33 on HCT-116 cells was associated with downregulation of the anti-apoptotic molecules Flice-like inhibitory protein and B-cell lymphoma 2. Taken together, the results indicated that IL-33 inhibits the growth of colon cancer by suppressing cellular proliferation, whilst simultaneously promoting apoptosis.

8.
Med Oncol ; 34(2): 23, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28058630

RESUMO

IL-33 is a member of the IL-1 family of cytokines, and no study has been performed to address its direct anti-tumor effect. This study is designed to investigate whether IL-33 has any direct effect on pancreatic cancer. Clonogenic survival assay, immunohistochemistry, TUNEL staining, proliferation, caspase-3 activity kits and RT-PCR were used to evaluate the effects of IL-33 on cell survival, proliferation and apoptosis of a pancreatic cancer cell line, MIA PaCa-2. We found that the percentage of colonies of MIA PaCa-2 cells, PCNA+ cells and the OD value of cancer cells were all decreased in the presence of IL-33. TUNEL+ cells and the relative caspase-3 activity in cancer cells were increased in the presence of IL-33. We further found that its anti-proliferative effect on cancer cells correlated with downregulation of pro-proliferative molecules cdk2 and cdk4 and upregulation of anti-proliferative molecules p15, p21 and p53. Its pro-apoptotic effect correlated with downregulation of anti-apoptotic molecule FLIP and upregulation of pro-apoptotic molecule TRAIL. These results suggest that IL-33 presents significant anti-tumor effects by inhibition of proliferation and induction of apoptosis of MIA PaCa-2 pancreatic cancer cells. Thus, strength of IL-33/ST2 signal pathway might be a promising way to treat pancreatic cancer.


Assuntos
Interleucina-33/farmacologia , Neoplasias Pancreáticas/tratamento farmacológico , Apoptose/efeitos dos fármacos , Processos de Crescimento Celular/efeitos dos fármacos , Linhagem Celular Tumoral , Humanos , Proteína 1 Semelhante a Receptor de Interleucina-1/biossíntese , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/patologia
9.
Int J Gynaecol Obstet ; 133(3): 320-4, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27087418

RESUMO

OBJECTIVE: To evaluate the outcomes of laparoscope-assisted peritoneal vaginoplasty for the treatment of congenital vaginal atresia. METHODS: A retrospective study enrolled patients diagnosed with congenital vaginal atresia who were treated with one of two different laparoscope-assisted peritoneal vaginoplasty techniques (named Luohu-one and Luohu-two) between October 31, 2001 and December 31, 2014. Operative time, intraoperative bleeding volume, surgical difficulty, complications, and post-procedure sexual satisfaction were reported. RESULTS: Data were collected for 620 patients. The Luohu-one procedure was used in the treatment of 145 patients, while 475 patients were treated with the Luohu-two procedure. In 5 (0.8%) patients, it was necessary to perform a sigmoid colon vaginoplasty. During surgery, 16 patients experienced a rectal injury, among whom, 9 patients experienced a rectal-vaginal fistula. Follow-up data extending to 7years were available for 285 patients. Of these 285 patients, 231 agreed to report details of their sexual experiences. In total, 222 (96.1%) patients reported being very satisfied with their vaginal conditions and sex life. The Luohu-two procedure demonstrated shorter operative and recovery time, and reduced intraoperative bleeding. However, both procedures demonstrated satisfactory results. CONCLUSION: Laparoscope-assisted peritoneal vaginoplasty demonstrated good safety and effectiveness in the treatment of patients with congenital vaginal atresia.


Assuntos
Anormalidades Congênitas/cirurgia , Laparoscopia/métodos , Complicações Pós-Operatórias/epidemiologia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Vagina/anormalidades , Adolescente , Adulto , China , Colo Sigmoide/cirurgia , Feminino , Seguimentos , Humanos , Laparoscopia/efeitos adversos , Duração da Cirurgia , Orgasmo , Períneo/cirurgia , Peritônio/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/efeitos adversos , Fístula Retovaginal/cirurgia , Estudos Retrospectivos , Vagina/cirurgia , Adulto Jovem
10.
J Surg Oncol ; 113(4): 364-9, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27100023

RESUMO

BACKGROUND: Interleukin-32 (IL-32) is a recently recognized intracellular, proinflammatory cytokine which may play a role in cancer metastasis and patient survival. The role of IL-32 in cancer, especially its direct effect on cancer cells, is not well understood. MATERIAL AND METHODS: Clonogenic assay, PCNA staining, Quick Cell Proliferation assay, TUNEL staining, and caspase-3 activity assay were used to investigate the in vitro role for IL-32α in human melanoma growth. We further investigated the possible molecular mechanisms using RT-PCR and immunohistochemical staining. RESULTS: Exogenous administration of IL-32α inhibited proliferation of the HTB-72 human melanoma cell line, but had little effect on other melanoma cell lines. Inhibition of proliferation in HTB-72 correlated with increased expression of p21 and p53. IL-32α administration also increased apoptosis in HTB-72. This finding correlated with increased expression of TRAILR1. CONCLUSIONS: The data presented suggest a direct effect of IL-32α on the growth of human melanoma and give some insight into the mechanisms which may in part govern this effect. J. Surg. Oncol. 2016;113:364-369. © 2016 Wiley Periodicals, Inc.


Assuntos
Interleucinas/farmacologia , Melanoma/tratamento farmacológico , Apoptose/efeitos dos fármacos , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Inibidor de Quinase Dependente de Ciclina p21/biossíntese , Humanos , Imuno-Histoquímica , Melanoma/metabolismo , Melanoma/patologia , Receptores do Ligante Indutor de Apoptose Relacionado a TNF/biossíntese , Proteína Supressora de Tumor p53/biossíntese
11.
J Surg Oncol ; 111(8): 969-74, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25988864

RESUMO

BACKGROUND: IL-9 is a pleiotropic cytokine produced mainly by Th9 cells. IL-9 may have an anti-proliferative role in murine melanoma, however, its effect on human melanoma is unknown. METHODS: We examined the effects of IL-9 on proliferation and apoptosis in four human melanoma cell lines, HTB-65, HTB-72, CRL-11147, and SK-Mel-5. Clonogenic assay, PCNA staining, Quick Cell Proliferation assay, TUNEL staining and caspase-3 activity assay were used to assess proliferation and apoptosis, as appropriate. RESULTS: We found that IL-9 decreased the percentage of colonies of HTB-72 and SK-Mel-5 cells but not that of HTB-65 or CRL-11147 cells. PCNA mRNA, PCNA+ cells, PCNA staining intensity, and the OD value of HTB-72 melanoma cells were consistently decreased in the present of IL-9. IL-9 also increased TUNEL+ cells and the relative caspase-3 activity in HTB-72 melanoma cells. We further investigated the possible molecular mechanisms using RT-PCR and immunohistochemical staining. The anti-proliferative effect of IL-9 on HTB-72 cells correlated with higher expression of anti-proliferative molecule p21. Its pro-apoptotic effect on HTB-72 cells correlated with higher expression of the pro-apoptotic molecule TRAIL. CONCLUSIONS: IL-9 inhibits melanoma HTB-72 cell growth by upregulation of p21 and TRAIL. Understanding the interactions between IL-9 and melanoma may help direct strategies for cytokine-based immunotherapy development.


Assuntos
Inibidor de Quinase Dependente de Ciclina p21/metabolismo , Inibidores do Crescimento/metabolismo , Interleucina-9/metabolismo , Melanoma/tratamento farmacológico , Ligante Indutor de Apoptose Relacionado a TNF/metabolismo , Apoptose/efeitos dos fármacos , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Inibidores do Crescimento/farmacologia , Humanos , Interleucina-9/farmacologia , Regulação para Cima
12.
Anticancer Res ; 34(9): 4649-56, 2014 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25202040

RESUMO

Radiation therapy plays a critical role in women with advanced-stage cervical cancer worldwide, particularly in developing countries, and most of the time it may be the only available treatment. The efficacy of radiation largely depends on the radiosensitivity of the tumor. The high radiation dose associated with therapy for cervical cancer may have severe side-effects and low-dose radiation has little effect on cervical cancer. A safe and effective radiosensitizing agent is required to allow reduction of radiation doses used and of side-effects associated with radiation for cervical cancer. In recent years, great knowledge has been gained about the effects of apoptosis, cyclo-oxygenases, angiogenesis, hypoxia and temperature on radiation, making it possible to manipulate the radiation response of cervical cancer to achieve a better treatment outcome. In this mini review, some of these factors associated with the radiosensitivity of cervical cancer are discussed.


Assuntos
Tolerância a Radiação , Neoplasias do Colo do Útero/radioterapia , Apoptose/genética , Apoptose/efeitos da radiação , Proteínas Reguladoras de Apoptose/genética , Proteínas Reguladoras de Apoptose/metabolismo , Receptores ErbB/genética , Receptores ErbB/metabolismo , Feminino , Humanos , Hipóxia , Neovascularização Patológica/genética , Neovascularização Patológica/metabolismo , Prostaglandina-Endoperóxido Sintases/genética , Prostaglandina-Endoperóxido Sintases/metabolismo , Doses de Radiação , Tolerância a Radiação/genética , Fatores de Risco , Temperatura , Neoplasias do Colo do Útero/genética , Neoplasias do Colo do Útero/metabolismo , Neoplasias do Colo do Útero/patologia , Fator A de Crescimento do Endotélio Vascular/genética , Fator A de Crescimento do Endotélio Vascular/metabolismo
13.
Cytokine ; 70(2): 126-33, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25073578

RESUMO

Interleukin-35 (IL-35), an IL-12 cytokine family member, mediates the immune inhibitory function of regulatory T cells (Treg). We assayed the presence of IL-35 in paraffin-embedded human pancreas cancer (PCAN) and unexpectedly found IL-35 was expressed mainly by epithelial derived PCAN cells, but not by Treg. We further examined the expression and effect of exogenous IL-35 in human PCAN cell lines and found IL-35 promoted growth and inhibited apoptosis in PCAN cell lines. IL-35 induced proliferation correlated with an increase in cyclin B, cyclin D, cdk2, and cdk4 and a decrease in p27 expression, while inhibition of apoptosis was associated with an increase in Bcl-2 and a decrease in TRAILR1. We conclude IL-35 is produced by PCAN in vivo and promotes PCAN cell line growth in vitro. These results might indicate an important new role for IL-35 as an autocrine growth factor in PCAN growth.


Assuntos
Apoptose , Comunicação Autócrina , Interleucinas/metabolismo , Neoplasias Pancreáticas/metabolismo , Neoplasias Pancreáticas/patologia , Anticorpos Neutralizantes/farmacologia , Apoptose/efeitos dos fármacos , Apoptose/genética , Comunicação Autócrina/efeitos dos fármacos , Linhagem Celular Tumoral , Proliferação de Células/efeitos dos fármacos , Sobrevivência Celular/efeitos dos fármacos , Humanos , Interleucinas/genética , Proteínas de Neoplasias/metabolismo , Neoplasias Pancreáticas/genética , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Receptores de Interleucina/genética , Receptores de Interleucina/metabolismo
14.
Zhonghua Zheng Xing Wai Ke Za Zhi ; 27(5): 343-7, 2011 Sep.
Artigo em Chinês | MEDLINE | ID: mdl-22259983

RESUMO

OBJECTIVE: To investigate the technique and therapeutic effect of laparoscopy-insisted vaginoplasty with peritoneum in patients with androgen insensitivity syndrome. METHODS: From May. in the Fifth People' s Hospital of Shenzhen. The therapeutic effect was retrospectively analyzed. RESULTS: Laparoscopy-insisted vaginoplasty was successfully completely with peritoneum in patients with androgen in 4 cases. Ileumtivity segyndroment was used instead of peritoneum in one case. Open operation was not adopted in any cases. The ectopic testicles were removed during operation in 4 cases. The average operation time and bleeding volume was 60 min and 20 ml, respectively. Rectum, bladder and urethra were not injured in any case. The average vaginal length was 9 cm (range 8-10 cm) 21-28 days after operation. 6 months after operation, the surface of reconstructed vagina was smooth, ruddy and flexible, with satisfactory anatomical and functional results. Normal sexual activity was achieved in 2 cases. CONCLUSIONS: Laparoscopy-insisted vaginoplasty with peritoneum could be used for female patients with androgen insensitivity syndrome. The ectopic testicles should be removed. Estrogen supplement and psychological guide after operation are also important.


Assuntos
Síndrome de Resistência a Andrógenos/cirurgia , Laparoscopia/métodos , Peritônio/cirurgia , Vagina/cirurgia , Adulto , Feminino , Humanos , Masculino , Procedimentos Cirúrgicos Reconstrutivos/métodos , Adulto Jovem
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