Browsing by Author "Saraiva, J"
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- Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patientsPublication . Carreira, IM; Ferreira, SI; Matoso, E; Pires, LM; Ferrão, J; Jardim, A; Mascarenhas, A; Pinto, M; Lavoura, N; Pais, C; Paiva, P; Simões, L; Caramelo, F; Ramos, L; Venâncio, M; Ramos, F; Beleza, A; Sá, J; Saraiva, J; Barbosa de Melo, JArray-based comparative genomic hybridization has been assumed to be the first genetic test offered to detect genomic imbalances in patients with unexplained intellectual disability with or without dysmorphisms, multiple congenital anomalies, learning difficulties and autism spectrum disorders. Our study contributes to the genotype/phenotype correlation with the delineation of laboratory criteria which help to classify the different copy number variants (CNVs) detected. We clustered our findings into five classes ranging from an imbalance detected in a microdeletion/duplication syndrome region (class I) to imbalances that had previously been reported in normal subjects in the Database of Genomic Variants (DGV) and thus considered common variants (class IV).
- Coronary artery bypass surgery in young adults: excellent perioperative results and long-term survivalPublication . Saraiva, J; Antunes, PE; Antunes, MJOBJECTIVES: To analyse perioperative results, long-term survival and freedom from complications after coronary artery bypass grafting (CABG) in young adults. METHODS: A total of 163 patients, 40 years old or younger, had isolated CABG from January 1989 to December 2010. Pre- and perioperative demographic and clinical data were retrieved from a prospectively organised database. Follow-up data were obtained by letter or telephone interviews. The mean age of the patients was 37.6 ± 2.9 years and 146 were men (90%). Fifty-three patients (32.5%) had angina class III/IV; 106 (65.0%), previous myocardial infarction; and 23 (14.1%), impaired left ventricular function (ejection fraction <40%). Indication for surgery was 3-vessel disease in 101 cases (62.0%), 2-vessel disease in 30 (18.4%) and single-vessel disease in 32 (19.6%). The left main stem was affected in 16 patients (9.8%). The mean EuroSCORE II was 0.92 ± 0.71. A total of 417 grafts were constructed (mean 2.6 grafts/patient), 247 of which (59.2%) were arterial. RESULTS: There were no in-hospital deaths. The mean hospital stay was 7.1 ± 4.0 days. Four patients (2.5%) were lost to follow-up, which extended from 3 to 25 years (mean 15.1 ± 5.5 years). There were 22 late deaths, 72.7% of cardiac or unknown origin. The 5-, 10- and 20-year survival rates were 98.7 ± 10.9, 95.2 ± 1.8 and 79.4 ± 4.4%, respectively. Twenty-six patients (18.1%) had non-fatal cardiac adverse complications (myocardial infarct, percutaneous re-revascularization or class III/IV angina), for 5-, 10- and 20-year freedom from complications of 97.9 ± 1.2, 91.9 ± 2.5 and 65.7 ± 7.1%, respectively. Twenty-two patients (17.5%) needed re-revascularization, for 5-, 10- and 20-year freedom from re-revascularization of 97.6 ± 1.4, 91.9 ± 2.6 and 69.5 ± 6.7%, respectively. CONCLUSIONS: Despite the aggressive nature of coronary artery disease in young patients, perioperative death and morbidity rates are low, with good long-term survival and low rates of re-revascularization.
- Diabetes as an outcome predictor after heart transplantationPublication . Saraiva, J; Sola, E; Prieto, D; Antunes, MJWe aimed to compare post-transplantation morbidity and survival among heart transplant recipients with and without diabetes mellitus. A retrospective review of 141 adult patients submitted to heart transplantation from November 2003 to June 2009 (with a minimum follow-up of one year) was undertaken. The patients were divided into two groups: those with (29%) and those without (71%) pre-transplantation diabetes. Those with diabetes were older (57.6±6.1 vs. 52.3±11.1 years; P=0.020) and had lower creatinine clearance (53.6±15.1 vs. 63.7±22.1; P=0.029). Nine patients died in hospital (6.4%; P=non-significant). No significant differences in lipid profiles (diabetes vs. no diabetes) existed before transplantation or at one year afterwards. Patients with diabetes showed a significant deterioration in their one-year lipid profile (158±43 vs.192±38 mg/dL; P=0.001), although one-year fasting diabetic was lower than before (178±80 vs. 138±45 mg/dL; P=0.016). During the first year, 17 (17%) patients previously free of diabetes developed new-onset diabetes. No significant differences were seen in rejection at one year (14% vs. 20%), infection (31% vs. 33%), new-onset renal dysfunction (8% vs. 14%) or mortality (17% vs. 7%). One-year survival was not significantly different (83% vs. 94%), but there was a significant decrease in the survival of individuals with diabetes at three years (73% vs. 91%; P=0.020). No significant difference was found in one-year survival or in terms of higher morbidity in the heart transplant patients with diabetes, but a longer follow-up showed a significant decrease in survival. Nonetheless, the patients with diabetes benefited significantly from transplantation and should not be excluded from it.
- Thyroid carcinoma in children and young adults: retrospective review of 19 casesPublication . Saraiva, J; Ribeiro, C; Melo, M; Costa, G; Carrilho, FIntroduction: Thyroid carcinoma is rare in children and young adults. Most of management guidelines are based in data from adult population. Several controversies remain regarding the aggressiveness of clinical presentation and therapeutic approach. Objective: To evaluate all differentiated thyroid carcinoma patients with less than 20 years-old at presentation reflecting the experience of our unit in relation to diagnosis, treatment and follow-up of this clinical entity. Material and Methods: This is a retrospective review of clinical records of all children and young adults followed at Oncology Consultation of Department of Endocrinology of Centro Hospitalar e Universitário de Coimbra between 1996 and 2012. Results: Nineteen patients with mean age of 16 years old were followed, 13 girls and 6 boys. None of the patients had previous neck irradiation. A palpable cervical mass was the presenting complaint in 84.6%. FNA was performed in 15 patients and was diagnostic or suspicious of malignancy in 71.4%. Total thyroidectomy was performed in 18 cases (94.7%). Papillary carcinoma was identified in all. Vascular invasion and multicentry occurred in 21.1%. Mean tumor size was 2.5cm. Cervical lymph node involvement was diagnosed in 31.6% and distant metastases in 5.2%. The majority of patients (18 in 19) were classified as stage I disease. All patients received thyroxine suppressive therapy and postoperative radioiodine ablation was given to 84.2% (mean dose 85.7mCi). During mean follow-up of almost 6 years, 16 patients remain disease free. Conclusion: In our series, cervical lymph node and distant metastases rates were similar to that found in adult population. Overall prognosis was very good.