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1.
Asian J Androl ; 24(3): 231-237, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35074941

RESUMO

Acephalic spermatozoa syndrome (ASS) is one of the most severe spermatogenic failures of all infertility in men. The cognition of ASS has experienced a tortuous process. Over the past years, with the in-depth understanding of spermatogenesis and the emergence of new genetic research technologies, the unraveling of the genetic causes of spermatogenic failure has become highly active. From these advances, we established a genetic background and made significant progress in the discovery of the genetic causes of ASS. It is important to identify pathogenic genes and mutations in ASS to determine the biological reasons for the occurrence of the disease as well as provide genetic diagnosis and treatment strategies for patients with this syndrome. In this review, we enumerate various technological developments, which have made a positive contribution to the discovery of candidate genes for ASS from the past to the present. Simultaneously, we summarize the known genetic etiology of this phenotype and the clinical outcomes of treatments in the present. Furthermore, we propose perspectives for further study and application of genetic diagnosis and assisted reproductive treatment in the future.


Assuntos
Infertilidade Masculina , Humanos , Infertilidade Masculina/genética , Infertilidade Masculina/patologia , Masculino , Proteínas de Membrana/genética , Mutação , Espermatogênese/genética , Espermatozoides/patologia
2.
Zhonghua Yi Xue Za Zhi ; 93(18): 1411-4, 2013 May 14.
Artigo em Chinês | MEDLINE | ID: mdl-24025507

RESUMO

OBJECTIVE: To analyze the clinicopathologic characteristics of gastroenteropancreatic neuroendocrine neoplasm(GEP-NET) and explore the prognostic factors for patients with GEP-NET. METHODS: Retrospectively reviews were conducted for the charts of 68 patients diagnosed pathologically with GEP-NET and treated at Sichuan Cancer Hospital during January 2001 to June 2012. The information of prognostic factors was retrieved and analyzed. Kaplan-Meier method was used to estimate survival rates and plot patient survival curves of patients at different levels of predictive factors. The association between clinicopathologic characteristic and prognosis in GEP-NET patients was assessed with Log-rank test. Meanwhile Cox proportional hazard model was used to select independent risk factors of patient survival. RESULTS: Stomach (20/68,29.41%) and cardia (16/68,23.53%) were mostly involved. Frequent tumor sites for males were stomach and cardia (34/52,65.38%) while the most common site was intestinal canal for female (12/16) . Ages of disease onset were different significantly among patient groups of different sites (P = 0.023). The average age of intestinal NET was the highest while gastric NET had the lowest. During a median follow-up duration of 49 (3-120)months, there were 37 deaths (54.41%), including 30 from postoperative relapses. Postoperative survival time ranged from 4-115 months. The mean survival periods were (46 ± 7) months respectively. The 1, 3, and 5-year survival rates were 65.1%, 41.5% and 28.7% respectively. Univariate analyses showed that the risk factors of survival time were patient age over 60 years, tumor size > 2 cm, T2-4 stage of tumor, vascular invasion, lymph node metastasis, distant metastasis, positive surgical margin and pathological grades of neuroendocrine carcinoma (NEC) and mixed adenoneuroendocrine carcinoma (MANEC). Multivariate analysis indicated independent risk factors were tumor size > 2 cm and pathological grades of NEC and MANEC. CONCLUSIONS: GEP-NET may occur at multiple sites of digestive system and lack specific clinical manifestations. Tumor size, distant metastasis and pathological grades were independent prognostic factors for GEP-NET patients.


Assuntos
Neoplasias Intestinais/patologia , Tumores Neuroendócrinos/patologia , Neoplasias Pancreáticas/patologia , Neoplasias Gástricas/patologia , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Prognóstico , Modelos de Riscos Proporcionais , Estudos Retrospectivos , Fatores de Risco
3.
Asian Pac J Cancer Prev ; 14(7): 4399-402, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23992010

RESUMO

OBJECTIVES: To analyze underlying disease, fatality rate and the major causes of death of in-patients with malignant tumors in Sichuan Cancer Hospital. METHODS: Clinical data of in-patients from 2002 to 2012 were retrospectively analyzed. RESULTS: The top 10 tumors (82.0%of the total) of the malignant tumors of the in- patients were lung, cervical, esophagus, breast, colorectal, nasopharynx, liver and gastric cancers, lymphomas and ovarian cancers. The overall fatality rate was 2.7% during these eleven years, 3.4% and 2.0% for male and females, respectively with statistical significance for the difference (χ2=164.737, P<0.001). The top 10 death causes were lung cancer, liver cancer, colorectal cancer, esophagus cancer, gastric cancer, lymphoma, breast cancer, pancreatic cancer, ovarian cancer and nasopharynx cancer. In-patients with pancreatic cancer had the highest fatality rate (9.6%). There were different ranks of death causes in different sex groups and age groups. CONCLUSION: Prevention and control work of cancer should be enhanced not only for cancers with high incidence such as lung cancer, esophageal cancer but also for the cancers which have low incidence but high fatality rate, such as pancreatic cancer and gallbladder cancer, which would help to improve the survival rate and quality of life of cancer patients in the future.


Assuntos
Neoplasias/mortalidade , Adulto , Causas de Morte , Feminino , Seguimentos , Hospitalização , Humanos , Pacientes Internados , Masculino , Pessoa de Meia-Idade , Prognóstico , Sistema de Registros , Taxa de Sobrevida , Fatores de Tempo
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