Browsing by Author "Pereira, J"
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- Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older womanPublication . Manco, L; Pereira, J; Relvas, L; Rebelo, U; Crisóstomo, AI; Bento, C; Ribeiro, MLGlucose-6-phosphate dehydrogenase (G6PD) deficiency, an X-linked disorder, is usually observed in hemizygote males and very rarely in females. The G6PD class 1 variants, very uncommon, are associated with chronic hemolytic anemia. Here we report a Portuguese woman who suffered in her sixties from a chronic hemolytic anemia due to G6PD deficiency. Molecular studies revealed heterozygosity for an in-frame 18-bp deletion, mapping to exon 10 leading to a deletion of 6 residues, 362-367 (LNERKA), which is a novel G6PD class 1 variant, G6PD Tondela. Two of her three daughters, asymptomatic, with G6PD activity within the normal range, are heterozygous for the same deletion. The patient's leukocyte and reticulocyte mRNA studies revealed an almost exclusive expression of the mutant allele, explaining the chronic hemolytic anemia. Patient whole blood genomic DNA HUMARA assay showed a balanced pattern of X chromosome inactivation (XCI), but granulocyte DNA showed extensive skewing, harboring the mutated allele, implying that in whole blood, lymphocyte DNA, with a very long lifetime, may cover up the current high XCI skewing. This observation indicates that HUMARA assay in women should be assessed in granulocytes and not in total leukocytes.
- Contributo de fatores individuais, sociais e ambientais para a decisão de prosseguir uma gravidez não planeada na adolescência: Um estudo caracterizador da realidade portuguesaPublication . Pires, R; Pereira, J; Araújo Pedrosa, A; Vilar, D; Vicente, L; Canavarro, MC
- Estimation of the collective ionizing dose in the Portuguese population for the years 2011 and 2012, due to nuclear medicine examsPublication . Costa, F; Teles, P; Nogueira, A; Barreto, A; Santos, A I; Carvalho, A; Martins, B; Oliveira, C; Gaspar, C; Barros, C; Neves, D; Costa, D; Rodrigues, E; Godinho, F; Alves, F; Cardoso, G; Cantinho, G; Conde, I; Vale, J; Santos, J; Isidoro, J; Pereira, J; Salgado, L; Rézio, M; Vieira, M; Simãozinho, P; Almeida, P; Castro, R; Parafita, R; Pintão, S; Lúcio, T; Reis, T; Vaz, PIn 2009-2010 a Portuguese consortium was created to implement the methodologies proposed by the Dose Datamed II (DDM2) project, aiming to collect data from diagnostic X-ray and nuclear medicine (NM) procedures, in order to determine the most frequently prescribed exams and the associated ionizing radiation doses for the Portuguese population. The current study is the continuation of this work, although it focuses only on NM exams for the years 2011 and 2012.
- Mesa 7 – Carcinoma da próstata: Fatores de risco e prevenção; Rastreio e diagnóstico precoce; Novidades no estadiamento; Como tratar em 2019Publication . Furriel, F; Pereira, J; Serra, S
- Mesenteric arteriovenous fistula causing portal hypertension and bleeding duodenal varicesPublication . Baranda, J; Pontes, JM; Portela, F; Silveira, L; Amaro, P; Ministro, P; Rosa, A; Pimenta, I; Andrade, P; Bernardes, A; Pereira, J; Leitão, M; Donato, A; Freitas, DWe report a case of portal hypertension associated with a non-traumatic arteriovenous fistula, presenting with bleeding duodenal varices. The patient was admitted for melaena. Emergency endoscopy showed oesophageal varices with no signs of recent bleeding and with no blood in the upper gastrointestinal tract. Arteriography of the coeliac axis and superior mesenteric artery failed to detect any bleeding source. Endoscopy was repeated because of persistent bleeding and revealed active bleeding from varices in the distal duodenum. The patient underwent surgery and a large paraduodenal varicose vein associated with an arteriovenous fistula was found. Resection of the paramural varix and surgical occlusion of the arteriovenous fistula were effective in the control of bleeding. Liver biopsy revealed mild portal fibrosis without cirrhosis. Three years after surgery the patient still has oesophageal varices but has not had recurrent bleeding. There was regression of intraduodenal varices.
- Minimally invasive repair of Morgagni hernia - A multicenter case seriesPublication . Lamas-Pinheiro, R; Pereira, J; Carvalho, F; Horta, P; Ochoa, A; Knoblich, M; Henriques, J; Henriques-Coelho, T; Correia-Pinto, J; Casella, P; Estevão-Costa, JChildren may benefit from minimally invasive surgery (MIS) in the correction of Morgagni hernia (MH). The present study aims to evaluate the outcome of MIS through a multicenter study. National institutions that use MIS in the treatment of MH were included. Demographic, clinical and operative data were analyzed. Thirteen patients with MH (6 males) were operated using similar MIS technique (percutaneous stitches) at a mean age of 22.2±18.3 months. Six patients had chromosomopathies (46%), five with Down syndrome (39%). Respiratory complaints were the most common presentation (54%). Surgery lasted 95±23min. In none of the patients was the hernia sac removed; prosthesis was never used. In the immediate post-operative period, 4 patients (36%) were admitted to intensive care unit (all with Down syndrome); all patients started enteral feeds within the first 24h. With a mean follow-up of 56±16.6 months, there were two recurrences (18%) at the same institution, one of which was repaired with an absorbable suture; both with Down syndrome. The application of MIS in the MH repair is effective even in the presence of comorbidities such as Down syndrome; the latter influences the immediate postoperative recovery and possibly the recurrence rate. Removal of hernia sac does not seem necessary. Non-absorbable sutures may be more appropriate.
- Relational and reproductive trajectories leading to adolescent pregnancy in Portugal: a national and regional characterizationPublication . Pires, R; Pereira, J; Pedrosa, AA; Bombas, T; Vilar, D; Vicente, L; Canavarro, MCINTRODUCTION: The current study aimed to describe the relational and reproductive trajectories leading to adolescent pregnancy in Portugal, and to explore whether there were differences in this process according to adolescents' place of residence. MATERIAL AND METHODS: Data were collected between 2008 and 2013 in 42 public health services using a self-report questionnaire developed by the researchers. The sample consisted of a nationally representative group of pregnant adolescents (n = 459). RESULTS: Regardless of having had one (59.91%) or multiple sexual partners (40.09%), the majority of adolescents became pregnant in a romantic relationship, using contraception at the time of the conception and knowing the contraceptive failure which led to pregnancy (39.22%). In some regions other trajectories were highly prevalent, reflecting options such as planning the pregnancy (Alentejo Region/ Azores Islands), not using contraception (Centro Region/Madeira Islands) or using it incorrectly, without identifying the contraceptive failure (Madeira Islands). On average, romantic relationships were longer than 19 months and adolescents' partners were older than themselves (> 4 years) and no longer in school (75.16%); these results were particularly significant when the pregnancy was planned. DISCUSSION: The knowledge gained in this study shows that prevention efforts must be targeted according to the adolescents' needs in each region and should include high-risk male groups. CONCLUSION: Our results may enable more efficient health policies to prevent adolescent pregnancy in different country regions and support educators and health care providers on sexual education and family planning efforts.
- Usefulness of Liver and Spleen Acoustic Radiation Force Impulse (ARFI) for the evaluation of cirrhotic patientsPublication . Barbosa, L; Oliveira, C; Fernandes, A; Marques, M; Pereira, J; Sofia, C; Caseiro-Alves, F; Noruegas, MJObjective: To evaluate the correlation between ARFI and Child-Pugh classification. Secondary Aims: 1) To compare ARFI values (hepatic, splenic and spleno-hepatic index) from cirrhotic to normal population; 2) To correlate biochemical parameters of liver function and ARFI. Materials and Methods: 58 cirrhotic patients (referenced to US for surveillance or to clarify any hepatic decompensation) were included in this prospective study, as well as 38 healthy subjects who underwent ultrasonography for other reasons than hepatic evaluation. All had ARFI liver and spleen evaluation on ACUSON S2000 ARFI equipment. The best cut-off liver and spleen values for the diagnosis of cirrhosis in comparison to the normal subjects were determined using SPSS® v20. Results: Mean liver ARFI values in controls and cirrhotic patients were respectively 1.18 ± 0.22 m/s and 2.93 ± 0.50 m/s. The ROC curve demonstrated an AUC 0.998 and the best cut-off was 1.89. Mean spleen ARFI values in controls and cirrhotic patients were respectively 2.60 ± 0.42 m/s and 3.03 ± 0.71. The ROC curve demonstrated an AUC 0.766 and the best cut-off was 2.73 m/s. The splenohepatic index showed a worse AUC than ARFI liver. A weak correlation was found between the ARFI liver and Child-Pugh. We found no statistically significant differences for spleen ARFI values and Child-Pugh. We found a statistically significant correlation between liver ARFI and bilirubin, ALKP, GGT, AST and AST/ALT ratio; and with spleen ARFI and ALKP and AST/ALT ratio. Conclusion: We showed that there is a tendency of higher levels of liver ARFI values for higher Child-Pugh classification suggesting a definite trend for higher values with more severe disease.