Hospital de Santa Maria
Repositório Institucional dos Hospitais da Universidade de CoimbraNot a member yet
2133 research outputs found
Sort by
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS
Get PDFThe diagnosis of von Willebrand disease (VWD), the most common inherited bleeding disorder, is characterised by a variable bleeding tendency and heterogeneous laboratory phenotype. The sequencing of the entire VWF coding region has not yet become a routine practice in diagnostic laboratories owing to its high costs. Nevertheless, next-generation sequencing (NGS) has emerged as an alternative to overcome this limitation. We aimed to determine the correlation of genotype and phenotype in 92 Portuguese individuals from 60 unrelated families with VWD; therefore, we directly sequenced VWF. We compared the classical Sanger sequencing approach and NGS to assess the value-added effect on the analysis of the mutation distribution in different types of VWD. Sixty-two different VWF mutations were identified, 27 of which had not been previously described. NGS detected 26 additional mutations, contributing to a broad overview of the mutant alleles present in each VWD type. Twenty-nine probands (48.3 %) had two or more mutations; in addition, mutations with pleiotropic effects were detected, and NGS allowed an appropriate classification for seven of them. Furthermore, the differential diagnosis between VWD 2B and platelet type VWD (n = 1), Bernard-Soulier syndrome and VWD 2B (n = 1), and mild haemophilia A and VWD 2N (n = 2) was possible. NGS provided an efficient laboratory workflow for analysing VWF. These findings in our cohort of Portuguese patients support the proposal that improving VWD diagnosis strategies will enhance clinical and laboratory approaches, allowing to establish the most appropriate treatment for each patient
Horrendoplastias
Get PDFA infeção e reações alérgicas associadas a grandes perdas de tecido ósseo em artroplastias protéticas da anca e joelho ou a infeção em reconstruções ósseas com aloenxertos estruturais de grandes dimensões pós resseções ósseas por patologia tumoral, correspondem a grandes desafios cirúrgicos de salvamento de membros.
São casos clínicos submetidos a múltiplas cirurgias, anos de evolução, fistulas profusamente produtivas, tratamentos antibióticos múltiplos, pessoas socialmente e profissionalmente destruídas. Muitos destes casos são propostos para cirurgia mutiladora com amputações de membros ou extração de material protético sem reconstrução estrutural, condenando o doente a incapacidades funcionais marcantes.
Apresentam-se 9 casos clínicos de doentes, 8 com artroplastias primárias, de revisão ou tumorais, de anca e joelho, complicadas com infeção (6 doentes) e/ou reação alérgica a metais/iodo (2 doentes) e 1 doente com aloenxerto estrutural do fémur de grandes dimensões infetado, a maioria com perda de osso e proposta de amputação, nomeadamente desarticulação pela anca. Na maioria dos casos tratava-se de infeção por St. aureus meticilino resistente, havendo 1 doente com flora polimicrobiana hospitalar resistente, submetidos a múltiplas cirurgias e oriundos de vários hospitais do país. Os doentes foram operados entre Novembro de 2013 e Abril de 2016 tendo o mais novo 23 anos e o mais velho 76 anos.
O tratamento cirúrgico foi composto por 2 tempos operatórios. Primeiro tempo (7 a 9h): extração de material protético; excisão de osso infetado e sem viabilidade; excisão em bloco de tecidos moles desvitalizados/necrosados e com exsudato em toda a periferia do material protético e tecido ósseo infetado, numa espessura com o mínimo de 4 mm; lavagem pulsátil do leito cirúrgico sangrante desbridado com betadine/H2O2 e soro fisiológico; reconstrução articular temporária com espaçador de grandes dimensões em metilmetacrilato com gentamicina.
Todos os doentes foram submetidos a terapia antibiótica tripla endovenosa durante 8 a 9 semanas, com controlo analítico rigoroso, tendo alguns deles deambulado com apoio de ortóteses. 2º tempo cirúrgico (4 a 7h) após valores de PCR normais, fez-se conversão dos espaçadores utilizando material protético de revisão e do foro tumoral revestido a prata (potencial bactericida), 8 dos casos com próteses tumorais da anca (5 com reconstrução de ½ fémur proximal e 3 com fémures totais protéticos). Os doentes tiveram alta autónomos e com apoio de canadianas após +- 3 semanas com triterapia antibiótica e.v. e PCR normal ou “borderline”, com passagem a antibióticoterapia dupla oral em ambulatório, no mínimo durante 3 meses até normalização de PCR em 3 avaliações analíticas espaçadas em 15 dias.
O doente mais antigo tem +- 29 meses com PCR normal (avaliações analíticas frequentes) e clinicamente todos se apresentam com PCR normais e sem sinais de infeção e/ou fistulas ativas. Funcionalmente, estão autónomos, os mais novos deambulam sem apoio de canadianas enquanto os mais velhos, por vezes, necessitam do apoio de 1 ou 2 canadianas, mas todos negam dores. Todas estas situações clinicas devem ser tratadas de forma agressiva, do ponto de vista de antibióticoterapia alargada e com conjugação de complexas técnicas cirúrgicas do âmbito de revisão protética e do foro tumoral, para se poder obter os melhores resultados possíveis no salvamento de membros, livres de infeção e com capacidade funcional.
Os doentes estão satisfeitos com o tratamento, apesar de extremamente exigente do ponto de vista físico e psíquico, por manterem os membros inferiores, referindo que se tivessem de voltar atrás passariam por tudo de novo. Não se pode dizer que estejam curados mas aqui apresenta-se uma metodologia médica e cirúrgica, como uma forma de ir mais além, na esperança da cura de situações clinico-cirúrgicas que muitos cirurgiões designam de horrendoplastias.info:eu-repo/semantics/publishedVersio
Exercise echocardiography for the assessment of pulmonary hypertension in systemic sclerosis: a systematic review
Get PDFBACKGROUND:
Pulmonary arterial hypertension (PAH) complicates the course of systemic sclerosis (SSc) and is associated with poor prognosis. The elevation of systolic pulmonary arterial pressure (sPAP) during exercise in patients with SSc with normal resting haemodynamics may anticipate the development of PAH. Exercise echocardiography (ExEcho) has been proposed as a useful technique to identify exercise-induced increases in sPAP, but it is unclear how to clinically interpret these findings. In this systematic review, we summarize the available evidence on the role of exercise echocardiography to estimate exercise-induced elevations in pulmonary and left heart filling pressures in patients with systemic sclerosis.
METHODS:
We conducted a systematic review of the literature using MEDLINE, Cochrane Library and Web of Knowledge, using the vocabulary terms: ('systemic sclerosis' OR 'scleroderma') AND ('exercise echocardiography') AND ('pulmonary hypertension'). Studies including patients with SSc without a prior diagnosis of PAH, and subjected to exercise echocardiography were included. All searches were limited to English and were augmented by review of bibliographic references from the included studies. The quality of evidence was assessed by the Effective Public Health Practice Project system.
RESULTS:
We identified 15 studies enrolling 1242 patients, who were mostly middle-aged and female. Several exercise methods were used (cycloergometer, treadmill and Master's two step), with different protocols and positions (supine, semi-supine, upright); definition of a positive test also varied widely. Resting estimated sPAP levels varied from 18 to 35 mm Hg, all in the normal range. The weighted means for estimated sPAP were 22.2 ± 2.9 mmHg at rest and 43.0 ± 4.3 mmHg on exercise; more than half of the studies reported mean exercise sPAP ≥40 mmHg. The assessment of left ventricular diastolic function on peak exercise was reported in a minority of studies; however, when assessed, surrogate variables of left ventricular (LV) diastolic dysfunction were associated with higher sPAP on exercise.
CONCLUSIONS:
We found very high heterogeneity in the methods, the protocols and the estimated sPAP response to exercise. LV diastolic dysfunction was common and was associated with greater elevation of sPAP on exercise.info:eu-repo/semantics/publishedVersio
Evaluation of the efficacy and safety of a standardised intracameral combination of mydriatics and anaesthetics for cataract surgery
Get PDFBACKGROUND/AIMS:
To compare the efficacy and safety of intracameral (IC) administration at the beginning of cataract surgery, of Mydrane, a standardised ophthalmic combination of tropicamide 0.02%, phenylephrine 0.31% and lidocaine 1%, to a standard topical regimen.
METHODS:
In this international phase III, prospective, randomised study, the selected eye of 555 patients undergoing phacoemulsification with intraocular lens (IOL) implantation received 200 μL of Mydrane (Mydrane group) just after the first incision or a topical regimen of one drop each of tropicamide 0.5% and phenylephrine 10% repeated three times (reference group). The primary efficacy variable was achievement of capsulorhexis without additional mydriatics. The non-inferiority of Mydrane to the topical regimen was tested. The main outcome measures were pupil size, patient perception of ocular discomfort and safety.
RESULTS:
Capsulorhexis without additional mydriatics was performed in 98.9% of patients and 94.7% in the Mydrane and reference groups, respectively. Both groups achieved adequate mydriasis (>7 mm) during capsulorhexis, phacoemulsification and IOL insertion. IOL insertion was classified as 'routine' in a statistically greater number of eyes in the Mydrane group compared with the reference group (p=0.047). Patients in the Mydrane group reported statistically greater comfort than the reference group before IOL insertion (p=0.034). Safety data were similar between groups.
CONCLUSIONS:
Mydrane is an effective and safe alternative to standard eye drops for initiating and maintaining intraoperative mydriasis and analgesia. Patients who received IC Mydrane were significantly more comfortable before IOL insertion than the reference group. Surgeons found IOL insertion less technically challenging with IC Mydrane.
TRIAL REGISTRATION NUMBER:
NCT02101359; Results.info:eu-repo/semantics/publishedVersio
Long-term survival in a patient with brain metastases of papillary thyroid carcinoma
Get PDFWe present the case of a 43-year-old woman who underwent total thyroidectomy with bilateral lymphadenectomy for a papillary thyroid carcinoma (PTC), solid variant (T4bN1bMx), with V600E BRAF mutation. After ablative therapy, she presented undetectable thyroglobulin (Tg) but progressively increasing anti-Tg antibodies (TgAbs). During follow-up, nodal, lung and brain metastases were identified. She was submitted to surgical excision of lung lesions, radiosurgery of brain metastases and five radioiodine treatments. The latest brain MRI showed no lesions, pulmonary CT showed stable micronodules and there was progressive reduction in TgAbs. This is a peculiar case of a PTC with lung and brain metastatic lesions detected through TgAbs. Initial histological and molecular study suggested a more aggressive clinical behaviour, which was eventually confirmed. Although PTC brain metastases are extremely rare and present poor prognosis, our patient presented a good response to treatment and longer survival than usually reported for similar cases.info:eu-repo/semantics/publishedVersio
Relations between Cardiac and Visual Phenotypes in Diabetes: A Multivariate Approach
Get PDFCardiovascular disease and diabetes represent a major public health concern. The former is the most frequent cause of death and disability in patients with type 2 diabetes, where left ventricular dysfunction is highly prevalent. Moreover, diabetic retinopathy is becoming a dominant cause of visual impairment and blindness. The complex relation between cardiovascular disease and diabetic retinopathy as a function of ageing, obesity and hypertension remains to be clarified. Here, we investigated such relations in patients with diabetes type 2, in subjects with neither overt heart disease nor advanced proliferative diabetic retinopathy. We studied 47 patients and 50 controls, aged between 45 and 65 years, equally distributed according to gender. From the 36 measures regarding visual structure and function, and the 11 measures concerning left ventricle function, we performed data reduction to obtain eight new derived variables, seven of which related to the eye, adjusted for age, gender, body mass index and high blood pressure using both discriminant analysis (DA) and logistic regression (LR). We found moderate to strong correlation between left ventricle function and the eye constructs: minimum correlation was found for psychophysical motion thresholds (DA: 0.734; LR: 0.666), while the maximum correlation was achieved with structural volume density in the neural retina (DA: 0.786; LR: 0.788). Controlling the effect of pairwise correlated visual constructs, the parameters that were most correlated to left ventricle function were volume density in retina and thickness of the retinal nerve fiber layers (adjusted multiple R2 is 0.819 and 0.730 for DA and LR), with additional contribution of psychophysical loss in achromatic contrast discrimination. We conclude that visual structural and functional changes in type 2 diabetes are related to heart dysfunction, when the effects of clinical, demographic and associated risk factors are taken into account, revealing a genuine relation between cardiac and retinal diabetic phenotypes.info:eu-repo/semantics/publishedVersio
Coronary artery bypass surgery without cardioplegia: hospital results in 8515 patients†
Get PDFOBJECTIVES:
Cardioplegic myocardial protection is used in most cardiac surgical procedures. However, other alternatives have proved useful. We analysed the perioperative results in a large series of patients undergoing coronary artery bypass (CABG) using cardiopulmonary bypass (CPB) and non-cardioplegic methods.
METHODS:
From January 1992 to October 2013, 8515 consecutive patients underwent isolated CABG with CPB without cardioplegia, under hypothermic ventricular fibrillation and/or an empty beating heart. The mean age was 61.9 ± 9.5 years, 12.4% were women, 26.3% diabetic, 64% hypertensive; and 9.6% had peripheral vascular disease, 7.8% cerebrovascular disease and 54.3% previous acute myocardial infarction (AMI). One-third of patients were in Canadian Cardiovascular Society Class III/IV. Three-vessel disease was present in 76.5% of the cases and 10.9% had moderate/severe left ventricle (LV) dysfunction (ejection fraction <40%). A multivariate analysis was made of risk factors associated to in-hospital mortality and three major morbidity complications [cerebrovascular accident, mediastinitis and acute kidney injury (AKI)], as well as for prolonged hospital stay.
RESULTS:
The mean CPB time was 58.2 ± 20.7 min. The mean number of grafts per patient was 2.7 ± 0.8 (arterial: 1.2 ± 0.5). The left internal thoracic artery (ITA) was used in 99.4% of patients and both ITAs in 23.1%. The in-hospital mortality rate was 0.7% (61 patients), inotropic support was required in 6.6% and mechanical support in 0.8, and 2.0% were re-explored for bleeding and 1.3% for sternal complications (mediastinitis, 0.8%). AKI, the majority transient, occurred in 1595 patients (18.9%). The incidence rates of stroke/transient ischemic attack (TIA) and acute myocardial infarction (AMI) were 2.6 and 2.5%, respectively, and atrial fibrillation/flutter occurred in 22.6% of cases. Age, LV dysfunction, non-elective surgery, previous cardiac surgery, peripheral vascular disease and CPB time were independent risk factors for mortality and major morbidity. The mean hospital stay was 7.2 ± 5.7 days.
CONCLUSIONS:
Isolated CABG with CPB using non-cardioplegic methods proved very safe, with low mortality and morbidity. These methods are simple and expeditious and remain as very useful alternative techniques of myocardial preservation.info:eu-repo/semantics/publishedVersio
Apathy in multiple sclerosis: gender matters
Get PDFApathy has been recognized as a frequent symptom in multiple sclerosis (MS) but uncertainty remains about its prevalence and clinical correlates. Therefore, the objective of this work was to assess the prevalence of apathy in patients with MS and to identify clinical and demographic correlates. A case-control study with 30 patients and 30 healthy controls matched for age, gender and education was performed. Apathy diagnosis was established using Robert et al.'s criteria. Additionally, apathy was assessed using the 10-item short version of the clinical-rated Apathy Evaluation Scale (AES-C-10). The Beck Depression Inventory (BDI), Modified Fatigue Impact Scale (MFIS), and Montreal Cognitive Assessment (MoCA) were used to evaluate depression, fatigue and cognitive impairment, respectively. Apathy prevalence in MS patients was 43.3%. Patients with MS had higher AES-C-10 scores than controls (13.9 vs. 12.0, p=0.015). Patients with apathy presented a higher proportion of males (53.8% vs. 11.8%, p=0.02), lower educational level (53.8% vs. 11.8% of patients with up to 9years of education), higher scores on cognitive dimension of MFIS (18.0 vs. 8.0, p=0.048) and BDI (13.0 vs. 7.0, p=0.035) and worse performance on MoCA (24.0 vs. 26.0, p=0.028). Gender was the only independent predictor of apathy, with men presenting a higher risk compared to women (OR: 9.62; 95%CI: 1.02-90.61; p=0.048). In conclusion, apathy is a common neuropsychiatric disorder in MS and it is probably underdiagnosed. Male patients seem to have an increased risk of apathy, and this finding may be related to the generally more unfavorable course of MS in men.info:eu-repo/semantics/publishedVersio
Imaging the postoperative patient: long-term complications of gastrointestinal surgery
Get PDFThe objectives of this review are (1) to become acquainted with the long-term complications of surgery of the gastrointestinal tract, and (2) to appreciate the appropriate use of imaging in the assessment of long-term complications