Browsing by Issue Date, starting with "2013"
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- De novo tacrolimus – associated hemolytic uremic syndrome after renal transplantation - Case reportPublication . Neto, P; Lopes, K; Macário, F; Alves, R; Mota, A; Campos, M
- O papel do pedopsiquiatra e a articulação inter-hospitalarPublication . Araújo, C; Silva, R; Ferreira Leite, V; Garrido, J
- Treatment of exudative age-related macular degeneration with intravitreal ranibizumab in clinical practice: a 3-year follow-upPublication . Marques, I; Fonseca, P; Luz Cachulo, M; Pires, I; Figueira, J; Faria de Abreu, JR; Silva, RPURPOSE: To evaluate the 36-month efficacy of intravitreal ranibizumab injections for choroidal neovascularization secondary to age-related macular degeneration (AMD) in real world clinical practice. METHODS: Retrospective study involving 84 eyes of 77 patients; 52 eyes completed 3 years of follow-up. Subjects were observed initially on a monthly basis and with extended follow-up intervals if signs of quiescence were detected, according to an established protocol. A comprehensive ophthalmologic examination was performed, including best-corrected visual acuity (BCVA) determined with Early Treatment Diabetic Retinopathy Study charts, stereoscopic macular biomicroscopy and optical coherence tomography (OCT) with fluorescein angiography and indocyanine green angiography if considered necessary. Treatment was given if signs of active lesions were present. RESULTS: The mean baseline BCVA was 49.33 and 49.52 letters at the 36-month visit. The average of treatments was 8.6 at 3 years. At this time point, 77% of treated eyes stabilized or improved their vision (VA loss ≤ 5 letters). A predictive value for better VA was found for younger age, better baseline VA, good response on OCT and more frequent treatments. CONCLUSION: At 3 years, intravitreal ranibizumab is able to maintain baseline VA in exudative AMD patients, with a reduced number of injections, but not to show VA improvement, in clinical practice.
- Síndrome de Hanhart – caso clínicoPublication . Rios, H; Carnide, C; Morais, S; Branco, M; Mesquita, J; Galhano, E; Ramos, LIntrodução: Em 1950 Hanhart descreveu três casos de aglossia e deformidades dos membros. A associação de malformações oromandibulares e dos membros é rara, veriÞcando -se grande variabilidade fenotípica entre os casos descritos. Caso Clínico: Gravidez com diagnóstico pré -natal ecográ-Þ co (24 semanas) de agenesia do pé direito, ausência do primeiro dedo do pé esquerdo e presença apenas da primeira falange do primeiro e quinto dedos da mão esquerda. Às 38 semanas de gestação nasce um recém -nascido, sexo masculino, com hipotonia generalizada e diÞ culdade respiratória com necessidade de manobras de reanimação. Ao exame físico destacava -se a presença de microretrognatia, microstomia e várias malformações ósseas a nível das mãos e pés. Desde as primeiras horas de vida que apresentou quadro de apneias com dessaturações recorrentes vindo a falecer na decorrência de um desses episódios. Discussão: A associação de microstomia, microretrognatia, hipoglossia, malformações dos membros e atingimento dos pares cranianos, permite -nos estabelecer o diagnóstico clínico de Síndrome de Hanhart. O seu diagnóstico nem sempre é fácil,dada a grande variabilidade fenotípica.
- Fractura trocantérica. Do pormenor à catástrofePublication . Bento-Rodrigues, J; Figueiredo, A; Brandão, A; Santos, S; Fonseca, FCaso Clínico: Apresenta-se um caso de uma doente de 93 anos, do sexo feminino, institucionalizada em Unidade de Cuidados Continuados (UCC), totalmente dependente, que sofreu queda da própria altura, da qual decorreu traumatismo da anca esquerda com dor importante às mobilizações passivas. Tinha como antecedentes enfarte agudo do miocárdio, hipertensão arterial, insuficiência renal crónica e diabetes mellitus tipo II e dislipidemia, medicada com clopidogrel, furosemida, hidroxizina, lisinopril, sinvastatina e omeprazol. Deu entrada no SU, onde realizou radiografias da bacia que confirmaram fractura trocantérica esquerda, cominutiva (classificaçãoo AO: 31-A2). Foi submetida a intervençãoo cirúrgica no próprio dia – encavilhamento anterógrado do fémur proximal com parafuso antirrotacional. Durante a cirurgia, o cirurgião considerou que o parafuso distal de bloqueio não apresentava presa importante e pediu parecer ao seu assistente (mais diferenciado) que considerou que estava adequado. A doente teve alta seis dias depois para a mesma UCC, voltando ao SU duas semanas mais tarde por apresentar o membro inferior esquerdo encurtado e em rotaçãoo externa. Fez Rx que revelou desmontagem distal do encavilhamento, com deslocação do parafuso de bloqueio e fractura cominutiva associada da diáfise do fémur. Ficou internada 27 dias por complicações médicas, altura em que foi submetida a cirurgia – extracção de material e encavilhamento longo proximal do fémur com parafuso anti-rotacional, tendo alta dois dias depois. Três dias após a alta, entrou no SU em peri-paragem, com hemorragia abundante no local da sutura, em acidose metabólica e hiperlactacidemia, com agravamento progressivo do quadro que culminou na morte da doente 12 horas mais tarde. Conclusões: É fundamental valorizar todos os pequenos passos de uma cirurgia, sendo preferível tomar mais tempo para alcançar uma fixaçãoo estável. Um doente idoso, polimedicado, acamado e institucionalizado é um doente de alto risco. A falha do “pormenor cirúrgico” pode ser catastrófica no idoso.
- Neonatal lupus with atypical cardiac and cutaneous manifestationPublication . Morais, S; Santos, IC; Pereira, DF; Mimoso, GNeonatal lupus erythematosus is a rare, passively acquired autoimmune disease, caused by maternal autoantibodies. The most common manifestations are skin rash and congenital heart block. Cutaneous manifestations may be present at birth, but often develop within a few weeks after delivery. Congenital heart block may present as bradycardia in utero or during physical examination at birth. Approximately 40-60% of mothers are asymptomatic when the infants are diagnosed. We present a case of a child, born with erythematosus lesions in the face, scalp, trunk, limbs and nodules/papules on the palmar and plantar surfaces. He also had hepatosplenomegaly and thrombocytopenia. Echocardiography showed hyperechoic lesions on the anterior papilar muscle of the left ventricle and on the lateral cusp of the tricuspid valve. The mother had unexplained fever and vasculitic lesions in her hands and feet. Antinuclear antibodies, anti-SSa/Ro and anti-SSb/La were positive in the mother and child, making the diagnosis of neonatal lupus.
- An 11-year-old boy with pharyngitis and cough: Lemierre syndromePublication . Mação, P; Cancelinha, C; Lopes, P; Rodrigues, FThe authors present the case of an 11-year-old boy with pharyngitis, treated with amoxicillin, that worsened on day 7, with cough, high fever and refusal to eat. Lethargy and respiratory distress were noted. Based on radiographic findings of bilateral infiltrates he was diagnosed with pneumonia and started on intravenous ampicillin and erythromycin. Two days later he complained of right-sided neck pain and a palpable mass was identified. An ultrasound showed partial thrombosis of the right internal jugular vein and a lung CT scan revealed multiple septic embolic lesions. Lemierre syndrome was diagnosed, antibiotic treatment adjusted and anticoagulation started. A neck CT-scan showed a large parapharyngeal abscess. His clinical condition improved gradually and after 3 weeks of intravenous antibiotics he was discharged home on oral treatment. This case illustrates the importance of diagnosing Lemierre syndrome in the presence of pharyngitis with localised neck pain and respiratory distress, to prevent potentially fatal complications.
- Urinothorax as an unusual type of pleural effusion - Clinical report and revisitationPublication . Ferreira, PG; Furriel, F; Ferreira, AJBACKGROUND: Despite the fact that there are a great number of established etiologies for pleural effusion, there are grounds for believing that there are also causes from unusual pathophysiological mechanisms, seen in certain clinical contexts and from potential iatrogenic interventions. Urinothorax is such a rare type of pleural effusion as there are fewer than 70 cases reported worldwide. CLINICAL CASE: A patient with a persistent left pleural effusion was admitted to the Urology ward for a lithiasic obstructive uropathy with hydronephrosis. A left percutaneous nephrostomy was performed. The effusion was unclassified at the initial workup and recurred after first drainage. A second approach confirmed a citrine fluid with borderline criteria for exudate, ammoniacal odour and an elusive pleural fluid-to-serum creatinine ratio. A retroperitoneal urinoma was recognized on CT, and the patient underwent a left nephrectomy with resolution of the pleural effusion. CONCLUSIONS: Urinothorax most frequently develops in patients with excretory uropathy or blunt abdominal trauma, although other mechanisms have been reported. Traditionally, a pleural fluid to serum creatinine ratio higher than one is a hallmark of this condition. In certain settings, taking this diagnosis into account at an early stage might be crucial for a good outcome.
- 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.
- Coronary artery bypass graft surgery during heart transplantationPublication . Pinto, CS; Prieto, D; Antunes, MJWe report the case of a patient who was submitted to coronary artery bypass graft surgery (CABG) during heart transplant as, during bench exploration, the donor heart presented a palpable atherosclerotic lesion in the anterior descending artery, not detected before harvesting. The patent internal thoracic artery from a previous CABG was used.