Currently, some infertility treatment centres provide sperm karyotype analysis, although the impact of sperm chromosomal abnormalities on fertility is not yet fully understood. Several studies using fluorescence in-situ hybridization (FISH) to analyse sperm chromosomal constitution discovered that the incidence of aneuploidy is increased in individuals with a history of repeated abortion or implantation failure and is even higher in cases of oligoasthenoteratozoospermia (OAT), abnormal somatic karyotype or in spermatozoa retrieved directly from the testis or epididymis, showing that the application of FISH in these cases may be of some benefit for improving the reproductive outcome. This article presents the results of clinical trials of FISH analysis on spermatozoa, the medical indications for performing this examination, its results in infertile patients and the advantages when performing genetic counselling prior to treatment. Also discussed is the possibility of applying the latest techniques of genetic analysis in these cases and the potential benefits for improving the prognosis of male infertility.
Introdução: O objectivo do estudo foi avaliar a taxa de sucesso e as complicações associadas a diferentes técnicas de correção transvaginal de prolapso apical, recorrendo a tecidos nativos. Material e Métodos: Estudo retrospetivo de 41 cirurgias vaginais para correção de prolapso apical com tecidos nativos, realizadas no Departamento de Uroginecologia de um hospital terciário, de janeiro/2013 a junho/2018. Resultados: Nesta amostra, a idade mediana foi de 66 anos, todas eram multíparas e 95,1% encontravam-se na pós-menopausa; 47,5% referiam história pessoal de histerectomia, 17,5% de colporrafia anterior, 10,0% de colporrafia posterior e 7,5% de correção de prolapso apical. À observação, para além do prolapso apical, 24,4% apresentavam prolapso anterior, 4,9% prolapso posterior e 53,7% prolapso dos três compartimentos. As técnicas utilizadas para correção vaginal do prolapso apical foram a suspensão dos ligamentos útero-sagrados (22,0%), a fixação ao ligamento sacro-espinhoso (68,3%) e a fixação à fáscia do músculo iliococcígeo (9,8%). No mesmo tempo cirúrgico, 39,0% foram histerectomizadas (com colporrafia anterior em 4/16; posterior em 3/16 e ambas em 7/16), 7,3% submetidas a colporrafia anterior, 2,4% a colporrafia posterior e 36,6% a colporrafia anterior e posterior. Não se registaram complicações no período peri-operatório. A taxa de sucesso terapêutico foi de 82,9%. Verificou-se recidiva clínica do prolapso apical em 17,1% e de outros prolapsos em 4,9%, um caso de incontinência urinária de urgência e dois de fístulas. Estas complicações ocorreram nos primeiros seis meses após a cirurgia em 34,1%. Não se registaram diferenças estatisticamente significativas relativamente à taxa de sucesso ou de complicações entre as três técnicas estudadas. Conclusão: O uso de tecidos nativos para correção do prolapso apical revelou-se um método efetivo e seguro com baixa morbilidade. Neste estudo, todas as técnicas estudadas revelaram-se igualmente eficazes, sugerindo que a sua escolha deve depender da experiência do cirurgião.
An ectopic pregnancy is located outside the uterus, mostly found in the fallopian tubes. The main predisposing factors are usually related to anatomical and/or functional disturbances of the fallopian tubes. Typically, an ectopic pregnancy presents with vaginal bleeding or abdominal pain in the first trimester of pregnancy, although it may be asymptomatic. The diagnosis of ectopic pregnancy, which is based on transvaginal ultrasound associated with the serum beta fraction of human chorionic gonadotropin values, is of the highest relevance due to the mortality risk involved. We report the case of a 26-year-old woman who presented with a four-week history of amenorrhea and abdominal pain. Initially, the diagnostic hypothesis was a pelvic inflammatory disease, as the patient complained of pain during deep palpation of the lower quadrants of the abdomen, and gynecological observation detected malodorous discharge and cervical tenderness. Antibiotic treatment was initiated. The patient was later diagnosed with ectopic pregnancy, which was discovered during a routine pregnancy ultrasound. She was submitted to urgent laparotomy with intraoperative confirmation of the interstitial location of the gestational sac.
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