Browsing by Author "Sousa, S"
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- Avaliação da sensibilidade médica para o risco de gravidez não planeadaPublication . Nobre-Ramos, V; Rodrigues, A; Sousa, S; Bombas, T; Moura, PABSTRACT: In Portugal, about 94% of sexually active women who don`t want to become pregnant, use a contraceptive method. From these, oral hormonal contraceptives are the most used. Despite this, unplanned pregnancies are a reality. The current study aimed to evaluate physicians’ sensibility to contraceptive counselling on the introduction of new therapies in women with underlying medical conditions and in polymedicated ones. It was a survey study with ten closed-ended questions. Physicians who care for women of reproductive age in a tertiary referral centre (n= 181). It was conducted an opinion survey among physicians who care for women of childbearing age. The differences in medical opinion considering age, sex, medical / surgical specialties and years of clinical practice were analyzed. In the introduction of new therapies, asked about the contraceptive method in use: always 16,6% (n=30) of respondents, nearly always 28,7% (n=52) and sometimes 44,8% (n=81). From these, 62% (n=101) neither provided complete information nor remitted to family planning appointments. When pregnancy was contraindicated 38,7% (n=70) informed about a safe method. About 89,5% (n=162) of the respondents didn't attended updates on contraception in the last year. Even though 64,6% (n= 117) considered it useful taking into account clinical practise. The respondents had poor knowledge about the resources in family planning, 79% (n=118). The female doctor showed a greater information about family planning topics (p=0,001). The younger physicians (<35 years old) and those with few years of clinical practise (<8 years) referred more constantly the importance of professional qualification on family planning (p=0,034; p=0,034). Despite the care of women in childbearing age the issues on drug interactions haven't been addressed constantly. There is evidence of a poor knowledge of the respondents of existing resources which limits an effective contraceptive counselling.
- Crescimento discordante precoce numa gravidez gemelar monocoriónicaPublication . Sousa, S; Passarinho, R; Alves, M; Taborda, A; Santos-Silva, IIntroduction: Abnormal growth, including discordant growth and intrauterine growth restriction (IUGR), occurs frequently in twin pregnancies and has been associated with increased risk of perinatal morbidity and mortality. Typically this occurs in the second or third trimester. Discordant growth in monochorionic twin pregnancies is probably related with the complications of a shared placenta. It is not clear whether there is increased risk of perinatal morbidity in both discordant twins or only in those with low birth weight. Case report: A 21 year old primigravida with a spontaneous monochorionic twin pregnancy was seen to have a crown-rump length discordance at 8 weeks of gestation (one fetus with 6mm and the other with 12 mm). All routine tests were normal. No major congenital or karyotype abnormalities or evidence of twin to twin transfusion syndrome (TTTS) were detected during follow up examinations. This discrepancy persisted until birth: fetus A was in the 25th percentile while fetus B below the 5th percentile. Umbilical artery flow in both twins remained normal. At 34 weeks, preeclampsia developed and labor induction was performed. The twins had a birth weight of 2195 g and 1415 g (35,5% discrepancy), and an Apgar score of 7 and 10 at 5th minute, respectively. They remain in the neonatal intensive care unit for 29 days, with the larger twin having more complications: transient tachypnea of the newborn, pneumothorax and hyperbilirubinemia. At two years old, they both had a normal development. Discussion: In monochorionic twins with a normal karyotype and no evidence of TTTS, the causes of discordant growth are not always clear. In this case, the occurrence of discordant growth and IUGR did not lead to more complications in the smaller twin.
- Multicentric Genome-Wide Association Study for Primary Spontaneous PneumothoraxPublication . Sousa, I; Abrantes, P; Francisco, V; Teixeira, G; Monteiro, M; Neves, J; Norte, A; Robalo-Cordeiro, C; Moura E Sá, J; Reis, E; Santos, P; Oliveira, M; Sousa, S; Fradinho, M; Malheiro, F; Negrão, L; Feijó, S; Oliveira, SADespite elevated incidence and recurrence rates for Primary Spontaneous Pneumothorax (PSP), little is known about its etiology, and the genetics of idiopathic PSP remains unexplored. To identify genetic variants contributing to sporadic PSP risk, we conducted the first PSP genome-wide association study. Two replicate pools of 92 Portuguese PSP cases and of 129 age- and sex-matched controls were allelotyped in triplicate on the Affymetrix Human SNP Array 6.0 arrays. Markers passing quality control were ranked by relative allele score difference between cases and controls (|RASdiff|), by a novel cluster method and by a combined Z-test. 101 single nucleotide polymorphisms (SNPs) were selected using these three approaches for technical validation by individual genotyping in the discovery dataset. 87 out of 94 successfully tested SNPs were nominally associated in the discovery dataset. Replication of the 87 technically validated SNPs was then carried out in an independent replication dataset of 100 Portuguese cases and 425 controls. The intergenic rs4733649 SNP in chromosome 8 (between LINC00824 and LINC00977) was associated with PSP in the discovery (P = 4.07E-03, ORC[95% CI] = 1.88[1.22-2.89]), replication (P = 1.50E-02, ORC[95% CI] = 1.50[1.08-2.09]) and combined datasets (P = 8.61E-05, ORC[95% CI] = 1.65[1.29-2.13]). This study identified for the first time one genetic risk factor for sporadic PSP, but future studies are warranted to further confirm this finding in other populations and uncover its functional role in PSP pathogenesis.
- Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progressionPublication . Oliveira, C; Sousa, S; Pinheiro, H; Karam, R; Bordeira-Carriço, R; Senz, J; Kaurah, P; Carvalho, J; Pereira, R; Gusmão, L; Wen, X; Cipriano, MA; Yokota, J; Carneiro, F; Huntsman, D; Seruca, RBACKGROUND & AIMS: Hereditary diffuse gastric cancer (HDGC) families carry CDH1 heterozygous germline mutations; their tumors acquire complete CDH1 inactivation through "2nd-hit" mechanisms. Most frequently, this occurs via promoter hypermethylation (epigenetic modification), and less frequently via CDH1 mutations and loss of heterozygosity (LOH). We quantified the different 2nd hits in CDH1 occurring in neoplastic lesions from HDGC patients. METHODS: Samples were collected from 16 primary tumors and 12 metastases from 17 patients among 15 HDGC families; CDH1 mutations, LOH, and promoter hypermethylation were analyzed. E-cadherin protein expression and localization were determined by immunohistochemistry. RESULTS: Somatic CDH1 epigenetic and genetic alterations were detected in lesions from 80% of HDGC families and in 75% of all lesions analyzed (21/28). Of the 28 neoplastic lesions analyzed, promoter hypermethylation was found in 32.1%, LOH in 25%, both alterations in 17.9%, and no alterations in 25%. Half of the CDH1 2nd hits in primary tumors were epigenetic modifications, whereas a significantly greater percentage of 2nd hits in metastases were LOH (58.3%; P = .0274). Different neoplastic lesions from the same patient frequently displayed distinct 2nd-hit mechanisms. Different 2nd-hit mechanisms were also detected in the same tumor sample. CONCLUSION: The 2nd hit in CDH1 frequently occurs via epigenetic changes in HDGC primary tumors and LOH in metastases. Because of the concomitance and heterogeneity of these alterations in neoplastic lesions and the plasticity of hypermethylated promoters during tumor initiation and progression, drugs targeting only epigenetic alterations might not be effective, particularly in patients with metastatic HDGC.