RESUMO
Non-ketotic hyperglycinaemia (NKH), or glycine encephalopathy, is an autosomal recessive neurometabolic disease caused by defective activity of the glycine cleavage system. Up to 80% of NKH cases are caused by mutations in the P protein encoded by the glycine decarboxylase (GLDC) gene. GLDC deletions were identified in approximately 20% of NKH mutant alleles and resulted in a severe neonatal form of the disease. Given the difficult management of NKH caused by GLDC deletion, it was decided to adopt a preventative approach in a family with a history of this disease by using preimplantation genetic diagnosis (PGD). In this family, there is a deletion in the 5' UTR (untranslated region) up to the third intron of GLDC. PGD was carried out using multiple displacement amplification (MDA) and fluorescent polymerase chain reaction (PCR). This resulted in a singleton pregnancy after transfer of three unaffected embryos. Post-natal DNA testing of the newborn confirmed the PGD result. This is the first report of a successful PGD cycle intended to prevent the occurrence of NKH in a family with a history of the disease. The use of MDA coupled with fluorescent PCR is a very encouraging strategy leading to both low allele drop-out (2/40) and failure of amplification (0/40) rates.
Assuntos
Glicina Desidrogenase (Descarboxilante)/genética , Hiperglicinemia não Cetótica/diagnóstico , Diagnóstico Pré-Implantação , Adulto , Feminino , Humanos , Hiperglicinemia não Cetótica/genética , Nascido Vivo , Masculino , Técnicas de Amplificação de Ácido Nucleico , GravidezRESUMO
BACKGROUND: This study evaluated serum vascular endothelial growth factor (VEGF) concentrations in women with normal intrauterine pregnancy (IUP), arrested IUP and ectopic pregnancy (EP). METHOD: This was a prospective, case-control study evaluating serum VEGF concentrations among 45 early pregnant women who subsequently were found to have an EP, a normal IUP or an arrested IUP (15 women in each group). Patients were stratified according to serum VEGF concentrations above and below 200 pg/ml. RESULTS: There was a significant difference in VEGF concentrations among women with EP, arrested IUP and normal IUP (306.1 +/- 26.5, 169.7 +/- 16.6 and 27.0 +/- 4.4 pg/ml respectively, P < 0.001). With a cut-off concentration of 200 pg/ml, serum VEGF could distinguish normal IUP from EP with a sensitivity of 88%, a specificity of 100% and a positive predictive value of 100%. Between EP and arrested IUP, the sensitivity was 87.5%, specificity 75% and positive predictive value of 77.8%. CONCLUSIONS: VEGF is a potential marker for EP. Its concentrations in women with EP are higher than in those with normal and arrested IUP.
Assuntos
Fatores de Crescimento Endotelial/sangue , Linfocinas/sangue , Gravidez Ectópica/sangue , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Humanos , Concentração Osmolar , Valor Preditivo dos Testes , Gravidez , Estudos Prospectivos , Valores de Referência , Sensibilidade e Especificidade , Fator A de Crescimento do Endotélio Vascular , Fatores de Crescimento do Endotélio VascularRESUMO
OBJECTIVE: To correlate the histopathology of adenomyosis particularly the depth and spread of adenomyosis and symptomatology. STUDY DESIGN: Medical records of 94 patients who had undergone a hysterectomy and who were found to have adenomyosis on histopathologic examination were reviewed and histopathologic slides were reexamined. The symptoms were correlated with the presence of adenomyosis, the depth of penetration, and the spread of adenomyosis foci. RESULTS: Specimens were stratified according to the degree of adenomyosis penetration into 4 groups: group A consisted of specimens with adenomyosis penetration into the myometrium of up to 25%; group B, 26-50%; group C, 51-75%, and group D, >75%. There was a significant correlation between the depth of penetration and the number of adenomyosis foci (r = 0.3446; p = 0.0001). Hemosiderin deposition was found mainly in the specimens with penetration of >75%. The symptoms did not correlate with the degree of penetration (r = 0.088; p NS). However, the spread of adenomyosis correlated significantly with pelvic pain (r = 0.80, p = 0.02), and with dysmenorrhea (r = 0.81, p = 0.01), but not with menorrhagia or dyspareunia. CONCLUSIONS: Hemosiderin deposition and adenomyosis foci are found predominantly in specimens with deep adenomyosis penetration. It suggests that the deeper the penetration, the more extensive the adenomyosis. Symptoms of adenomyosis do not correlate with the depth of penetration, but there is a correlation between the spread of adenomyosis and pelvic pain, and dysmenorrhea.
