Browsing by Author "Bento, C"
Now showing 1 - 10 of 39
Results Per Page
Sort Options
- An unusual cause of acute cardiogenic shock in the operating roomPublication . Baptista, R; Fonseca, J; Marconi, L; Furriel, F; Prieto, D; Bento, C; Antines, MJ; Figueiredo, AA 51-year-old man with a renal carcinoma with inferior vena cava (IVC) invasion was referred to our hospital for the performance of a radical nephrectomy with IVC thrombus excision. To prevent embolism, an IVC filter was implanted the day before surgery below the suprahepatic veins. On nephrectomy completion, the clinical status of the patient started to deteriorate and an unsuccessful attempt was made to excise the IVC thrombus. The patient developed profound refractory hypotension without significant bleeding and worsening splanchnic stasis was noted. A transesophageal echocardiogram was immediately performed in the operating room, revealing a hemispheric mass protruding from the IVC ostium to the right atrium, completely blocking all venous return. Volume depletion was evident by low left and right atrial volumes and increased septum mobility. No other abnormalities were found that could explain the shock, namely ventricular dysfunction or valvular disease. Cardiac surgery consultation was immediately obtained, ultimately deciding to perform a median sternotomy with direct exploration of right atrium. Under cardiopulmonary bypass, a 6-cm long thrombotic mass was identified, involving the IVC filter, blocking all lower body venous return; the removal of the mass reversed the shock. The patient had an uneventful recovery. Adverse outcomes associated with IVC filters are common. Our case highlights the importance of a team approach to rapid changes in hemodynamic status in the operating room, including the surgeon, the anesthesiologist, and the cardiologist. It also emphasizes the pivotal role of transesophageal echocardiogram in the clinical evaluation of severely unstable patient
- Anti-NMDA receptor encephalitis presenting with total insomnia--a case reportPublication . Marques, IB; Teotónio, R; Cunha, C; Bento, C; Sales, FFatal insomnia (FI) is the first diagnosis to be considered by most neurologists when approaching a patient presenting with total insomnia followed by personality and cognitive changes, disturbance of alertness, autonomic hyperactivation and movement abnormalities. We report the case of a 30 year-old male patient who presented with total insomnia followed by episodes of psychomotor restlessness resembling anxiety attacks. Twenty days later, he developed refractory convulsive status epilepticus with admission to Intensive Care Unit. He progressed to a state of reduced alertness and responsiveness, presenting periods of agitation with abnormal dyskinetic movements, periods of autonomic instability and central hypoventilation. Workup revealed antibodies against N-methyl-d-aspartate receptor (NMDAR). Immunotherapy treatment led to a very significant improvement with the patient presenting only slight frontal lobe dysfunction after one year of recovery. To the best of our knowledge this is the first report of a patient with anti-NMDAR encephalitis first presenting with total insomnia. Our aim is to alert that anti-NMDAR encephalitis must be considered in the differential diagnosis of FI, especially in sporadic cases. Distinguishing the two conditions is very important as, contrarily to the fatal disclosure of FI, anti-NMDAR encephalitis is potentially reversible with adequate treatment even after severe and prolonged disease.
- 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.
- Diastolic Dysfunction in Liver Cirrhosis: Prognostic Predictor in Liver Transplantation?Publication . Carvalheiro, F; Rodrigues, C; Adrego, T; Viana, JS; Vieira, H; Seco, C; Pereira, L; Pinto, F; Eufrásio, A; Bento, C; Furtado, EBACKGROUND: Patients with liver cirrhosis may develop cirrhotic cardiomyopathy (CC), characterized by blunted contractile responsiveness to stress, diastolic dysfunction (DD), and electrophysiological abnormalities. It may adversely affect the long-term prognosis of these patients. METHODS: We conducted a retrospective analysis of patients undergoing liver transplantation (LT) for cirrhosis from January 2012 to June 2015. We analyzed demographic characteristics, the etiology of cirrhosis, Child-Pugh and Model for End-Stage Liver Disease (MELD) scores, the corrected QT (QTc) interval in the preoperative period, diastolic and systolic dysfunction, mortality and survival, and duration of mechanical ventilation and vasopressor support in the post-LT period. These variables were compared with diastolic dysfunction and prolongation of QTc, with the use of chi-square, Fisher, and Mann-Whitney U tests. RESULTS: The study included 106 patients, 80.2% male and overall average age 54.83 years. The median MELD score was 16, and Child-Pugh class C in 55.4%. Prolonged QTc interval before LT was present in 19% and DD in 35.8% of patients. QTc before LT or DD did not vary significantly with MELD or Child-Pugh score. CONCLUSIONS: The patients in the pre-LT period presented with a significant incidence of DD, which can predispose them to adverse cardiac events. The presence of DD correlates with mortality after LT in patients with hepatic cirrhosis.
- Encefalite do tronco e mielite por listeria num jovem adulto previamente saudávelPublication . Bento, C; Januário, C; Silva, S; Oliveira, CR
- Erythrocytosis associated with a novel missense mutation in the BPGM genePublication . Petousi, N; Copley, RR; Lappin, TR; Haggan, SE; Bento, C; Cario, H; Percy, MJ; Consortium, TW; Ratcliffe, PJ; Robbins, PA; McMullin, MF
- Evolutionary Constraints in the b-Globin Cluster: The Signature of Purifying Selection at the d-Globin (HBD) Locus and Its Role in Developmental Gene RegulationPublication . Moleirinho, A; Seixas, A; Lopes, AM; Bento, C; Prata, MJ; Amorim, AHuman hemoglobins, the oxygen carriers in the blood, are composed by two α-like and two β-like globin monomers. The β-globin gene cluster located at 11p15.5 comprises one pseudogene and five genes whose expression undergoes two critical switches: the embryonic-to-fetal and fetal-to-adult transition. HBD encodes the δ-globin chain of the minor adult hemoglobin (HbA2), which is assumed to be physiologically irrelevant. Paradoxically, reduced diversity levels have been reported for this gene. In this study, we sought a detailed portrait of the genetic variation within the β-globin cluster in a large human population panel from different geographic backgrounds. We resequenced the coding and noncoding regions of the two adult β-globin genes (HBD and HBB) in European and African populations, and analyzed the data from the β-globin cluster (HBE, HBG2, HBG1, HBBP1, HBD, and HBB) in 1,092 individuals representing 14 populations sequenced as part of the 1000 Genomes Project. Additionally, we assessed the diversity levels in nonhuman primates using chimpanzee sequence data provided by the PanMap Project. Comprehensive analyses, based on classic neutrality tests, empirical and haplotype-based studies, revealed that HBD and its neighbor pseudogene HBBP1 have mainly evolved under purifying selection, suggesting that their roles are essential and nonredundant. Moreover, in the light of recent studies on the chromatin conformation of the β-globin cluster, we present evidence sustaining that the strong functional constraints underlying the decreased contemporary diversity at these two regions were not driven by protein function but instead are likely due to a regulatory role in ontogenic switches of gene expression.
- Falência Hepática Aguda: Manutenção das funções vitaisPublication . Bento, C
- Haemodynamics during liver transplantation in familial amyloidotic polyneuropathy: study of the intraoperative cardiocirculatory data of 50 patientsPublication . Viana, JS; Bento, C; Vieira, H; Neves, S; Seco, C; Elvas, L; Coelho, L; Ferrão, J; Tomé, L; Perdigoto, R; Craveiro, AL; Providência, LA; Furtado, ALBACKGROUND: Circulatory instability frequently complicates liver transplantation for familial amyloidotic polyneuropathy (FAP) and may be a source of surgical morbidity and mortality. OBJECTIVE: To evaluate FAP intraoperative haemodynamic data and their relation to the duration of surgery, and need for anaesthetic drugs. RBC and sympathomimetic amines. SETTING: Clinical study during a four year period. PATIENTS (mean +/- SD): Group I included 50 consecutive FAP ATTR Met 30 recipients of first transplantation. Age was 35.3 +/- 7.1 years, neurological score 34.3 +/- 13 in 100 and time elapsed from first symptom 5.0 +/- 2.7 years. Group II (control), not different concerning age and sex, included 51 patients transplanted during the same period with other pathologies. METHOD: Anaesthetic protocol, monitoring and surgical techniques were similar in both groups. Data of the two groups were compared either by the Student's t-test or Fisher's exact test. RESULTS: Low values of systemic vascular resistance index were observed in both groups, with no differences between them. Systemic arterial pressures were usually lower in group I, because cardiac index and heart rate were also significantly lower, although within normal values. However, in group I, isoflurane (a vasodilator anaesthetic) was used during less time (p < 0.05) and in lower concentrations (p < 0.01) and phenylephrine was necessary in 26% of patients vs 0 patients in group II (p < 0.001). CONCLUSION: FAP patients presented a different intraoperative behaviour when compared to other patients submitted to liver transplantation. From a clinical point of view, the authors stress: 1--As a result of autonomic dysfunction, the administration of anaesthetic drugs to FAP patients always presents the risk of producing significant hypotension; even the use of ketamine does not prevent hypotension; 2--Safety is ensured by beat-to-beat surveillance of arterial pressures and the capacity to act immediately to support circulation; 3--These patients seem to be very sensitive to decreases in the pre-load; 4--Hypotension is also frequent with an adequate pre-load, usually as the result of low SVR; an infusion of a vasoconstrictor drug emerges as the most frequent treatment requested and our experience supports it as an effective one.
- Intraoperative management of liver transplantation for familial amyloid polyneuropathy Met30: what has changed in the last 10 years?Publication . Viana, JS; Vieira, H; Bento, C; Neves, S; Seco, C; Furtado, AL