Browsing by Author "Dias, M"
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- Adenocarcinoma da vagina: caso clínicoPublication . Lemos, S; Dias, M; Silva, T; Oliveira, CF
- Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2.Publication . Brás, JM; Guerreiro, RJ; Morgadinho, A; Januário, C; Dias, M; Calado, A; Semedo, C; Oliveira, CR; Hardy, J; Singleton, ABACKGROUND: Mutations in the genes PRKN and LRRK2 are the most frequent known genetic lesions among Parkinson's disease patients. We have previously reported that in the Portuguese population the LRRK2 c.6055G > A; p.G2019S mutation has one of the highest frequencies in Europe. METHODS: Here, we follow up on those results, screening not only LRRK2, but also PRKN, SNCA and PINK1 in a cohort of early-onset and late-onset familial Portuguese Parkinson disease patients. This series comprises 66 patients selected from a consecutive series of 132 patients. This selection was made in order to include only early onset patients (age at onset below 50 years) or late-onset patients with a positive family history (at least one affected relative). All genes were sequenced bi-directionally, and, additionally, SNCA, PRKN and PINK1 were subjected to gene dosage analysis. RESULTS: We found mutations both in LRRK2 and PRKN, while the remaining genes yielded no mutations. Seven of the studied patients showed pathogenic mutations, in homozygosity or compound heterozygosity for PRKN, and heterozygosity for LRRK2. CONCLUSION: Mutations are common in Portuguese patients with Parkinson's disease, and these results clearly have implications not only for the genetic diagnosis, but also for the genetic counseling of these patients.
- Avaliação de uma série de 361 tumores benignos do ovário submetidos a tratamento cirúrgicoPublication . Custódio, S; Lemos, S; Dias, M; Oliveira, CF
- Benign and malignant mammary tumors induced by DMBA in female Wistar ratsPublication . Dias, M; Cabrita, S; Sousa, E; França, B; Patrício, J; Oliveira, CFThis study pretends to characterize 7, 12-dimetylbenz[a]anthracene-induced benign and malignant tumors. One hundred and twenty female Wistar rats were randomly allocated to two groups: Control Group and Induction Group; IG animals were given a single dose of DMBA and killed 24 weeks after. Other tumors besides breast tumors were diagnosed, mainly tumors of the salivary glands and ovarian benign epithelial tumors. Incidence of breast disorders was about 60%. Macroscopic mammary tumors varied in dimension from 2 mm to 55 mm. Malignant breast tumors (n = 56) were essentially invasive ductal carcinomas (91.1%), G1 (92.2%), presenting histologic characteristics of good prognosis. Predominant benign breast disorders consisted of glandular (68.6%) and atypical (20%) hyperplasias reproducing histologic types of human breast diseases. Different individual susceptibility to DMBA apparently occurs; while some rats never developed neoplasias, others exhibited several tumors.
- Comportamento evolutivo dos tumores invasivos da mama T2 com base nos factores preditivos clássicosPublication . Custódio, S; Lemos, S; Saleiro, S; Miguéis, J; Dias, M; Rodrigues, V; Oliveira, CF
- Detection of axillary metastases in breast cancer patients using ultrasound and colour Doppler combined with fine needle aspiration cytologyPublication . Lemos, S; Dias, M; Gonçalo, Manuela; Pinto, E; Fernandes, G; Oliveira, CFThe aims of this study were to evaluate the diagnostic value of ultrasonography and colour Doppler combined with fine needle aspiration (FNA) cytology for the detection of non-palpable axillary lymph node metastases in breast cancer patients. Forty patients with operable breast cancer (T1/T2), invasive carcinoma, not submitted to neo-adjuvant therapy, underwent axillary ultrasonography and colour Doppler preoperatively. FNA cytology was performed on axillary lymph nodes presenting ultrasonographic and/or Doppler suspicious features. A total of 542 lymph nodes were surgically removed from the 40 patients; 19 were metastatic lymph nodes. Ultrasound-guided FNA detected metastases in six out of 11 histologically node-positive patients. Sensitivity and specificity in this preliminary study was 55% and 100%, respectively. These are the preliminary results of a prospective study that has the purpose of reducing the sentinel node procedures in breast cancer patients with clinically negative axillae, but positive FNA cytology.
- Diagnostic value of ultrasound and color Doppler in identifying axillary lymph node metastases in patients with breast cancerPublication . Couto, D; Dias, M; Gonçalo, Manuela; Pinto, E; Oliveira, CFPURPOSE: The aim of this study was to evaluate the diagnostic ability of ultrasound and color Doppler in axillary lymph node metastases of patients with breast cancer. MATERIAL AND METHODS: A prospective study including 55 patients with primitive, invasive, node negative breast cancer who underwent preoperative axillary ultrasound and color Doppler. Doppler and morphologic ultrasound criteria were applied to the identification of axillary lymph node metastases. RESULTS: The imagery study of all 55 patients identified a total of 141 nodes; 44 were considered to be positive according to established criteria. The histological examination of the axillary dissection revealed a total of 989 nodes; 77 out of 989 presented metastases; all invaded nodes belonged to 21 patients. The previous imagiologic study was positive for axillary lymph node metastases in 15 out of these 21 patients. A sensitivity of 71.4%, a specificity of 71.4%, a negative predictive value of 80.6% and a positive predictive value of 60.0% were achieved. CONCLUSION: The imagery study of the axillary region through ultrasound and color Doppler might be useful in assessing axillary lymph node metastases in patients with breast cancer.
- Diagnostic value of ultrasound and color doppler in identifying axillary lymph node metastases in patients with breast cancer: preliminary resultsPublication . Couto, D; Dias, M; Gonçalo, Manuela; Oliveira, CF
- Effect of simvastatin on metastasis-specific mouse mammary carcinoma 4T1 cells in vivo systemPublication . Custódio, AS; Dias, M; Cabrita, A; Oliveira, CF
- Factores de recorrência das lesões intraepiteliais do colo do úteroPublication . Pires, MA; Dias, M; Oliveira, CF; Oliveira, HMMATERIAL AND METHODS: A retrospective study (1994-1996) of 282 cases of intraepithelial lesions treated in the Gynecology Services of Coimbra University Hospitals and subsequent follow-up (9-45 months). The following parameters were evaluated as recurrence factors: the patient's age, lesion degree, associated HPV infection, treatment type, safety margin in the ablative treatments and interval free of illness. RESULTS: Of the 282 cases, 72.4% (N = 204) corresponded to HSIL and 27.6% (N = 78) to LSIL. The patients' mean was 36.3 +/- 9.1 [19-67] years. The most commonly used treatment types were the LLETZ (large loop excision of the transformation zone) (76.9%) followed by CO2 LASER vaporization (16%) and finally cold-knife conization (7.1%). The safety margins were determined in 184 cases and, on average, were of 3.2 +/- 2.4 [1-10] mm. Forty-four recurrences occurred (15.6%) of which 75% corresponded to HSIL lesions (N = 33) and 25% (N = 11) to LSIL. From the total number of recurrences the association to HPV infection was found in 24 of the cases (54.5%) and 75% of these (N = 19) corresponded to HSIL. The average age in the recurrence group was 38.2 +/- 8.7 [21-53] years and 35.9 +/- 9.2 [19-67] years in the group without recurrences (p > 0.05). In the LSIL group treated with CO2 LASER (N = 32) the recurrence rate was 15.6% versus 13.3% in the group treated with LLETZ (N = 45). In the HSIL that were treated with CO2 LASER vaporization (N = 13) the recurrence rate was 23%; in those treated with LLETZ (N = 172) there were 16.2% recurrences and in the group submitted to cold-knife conization (N = 19) that rate was 10.5%. CONCLUSIONS: The total rate of recurrence was 15.6% with the greatest incidence of lesions associated to HPV (p > 0.05). Regarding the particular case of the HSIL, a great number of recurrences with the destructive treatments (CO2 LASER) was observed when compared to the ablative treatments (cold-knife conization or LLETZ).