Hospital de Santa Maria
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Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA
Get PDFLarge studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to identification of >250 different mutations. It is a challenge to determine the pathogenic effect of potential splice site mutations on VWF mRNA. This study aimed to elucidate the true effects of 18 mutations on VWF mRNA processing, investigate the contribution of next-generation sequencing to in vivo mRNA study in von Willebrand disease, and compare the findings with in silico prediction. RNA extracted from patient platelets and leukocytes was amplified by RT-PCR and sequenced using Sanger and next generation sequencing techniques. Eight mutations affected VWF splicing: c.1533+1G>A, c.5664+2T>C and c.546G>A (p.=) prompted exon skipping; c.3223-7_3236dup and c.7082-2A>G resulted in activation of cryptic sites; c.3379+1G>A and c.7473G>A (p.=) demonstrated both molecular pathogenic mechanisms simultaneously; and the p.Cys370Tyr missense mutation generated two aberrant transcripts. Of note, the complete effect of 3 mutations was provided by next generation sequencing alone because of low expression of the aberrant transcripts. In the remaining 10 mutations, no effect was elucidated in the experiments. However, the differential findings obtained in platelets and leukocytes provided substantial evidence that 4 of these would have an effect on VWF levels. In this first report using next generation sequencing technology to unravel the effects of VWF mutations on splicing, the technique yielded valuable information. Our data bring to light the importance of studying the effect of synonymous and missense mutations on VWF splicing to improve the current knowledge of the molecular mechanisms behind von Willebrand disease.info:eu-repo/semantics/publishedVersio
Gastric neuroendocrine neoplasm with late liver metastasis
Get PDFGastric neuroendocrine neoplasms (GNENs) are classified into three types according to their aetiology. We present a clinical case of a female patient of 66 years and a well-differentiated (grade 2), type 3 GNEN with late liver metastasis (LM). The patient underwent surgical excision of a gastric lesion at 50 years of age, without any type of follow-up. Sixteen years later, she was found to have a neuroendocrine tumour (NET) metastatic to the liver. The histological review of the gastric lesion previously removed confirmed that it was a NET measuring 8 mm, pT1NxMx (Ki67 = 4%). 68Ga-DOTANOC PET/CT reported two LM and a possible pancreatic tumour/gastric adenopathy. Biopsies of the lesion were repeatedly inconclusive. She had a high chromogranin A, normal gastrin levels and negative anti-parietal cell and intrinsic factor antibodies, which is suggestive of type 3 GNEN. She underwent total gastrectomy and liver segmentectomies (segment IV and VII) with proven metastasis in two perigastric lymph nodes and both with hepatic lesions (Ki67 = 5%), yet no evidence of local recurrence. A 68Ga-DOTANOC PET/CT was performed 3 months after surgery, showing no tumour lesions and normalisation of CgA. Two years after surgery, the patient had no evidence of disease. This case illustrates a rare situation, being a type 3, well-differentiated (grade 2) GNEN, with late LM. Despite this, it was possible to perform surgery with curative intent, which is crucial in these cases, as systemic therapies have limited efficacy. We emphasise the need for extended follow-up in these patients.info:eu-repo/semantics/publishedVersio
The influence of educational nursing intervention on the eating habits and anthropometric values of people who have undergone coronary surgery
Get PDFObjective: Educational nursing intervention is a strategy that can be useful for changing behaviours in a person’s health. Hospitalisation for coronary surgery is a valuable opportunity for the nurse to implement the knowledge which aims to promote healthy behaviours and secondarily, prevent coronary and cardiovascular disease, as these continue to be the main causes of death worldwide. The purpose of this study is to evaluate the influence of educational nursing intervention in the promotion of a healthy diet and in the anthropometric values (body mass index and waist perimeter) of people who have undergone coronary surgery.
Methods: A quantitative and quasi-experimental study was conducted on a control group (20 participants in each group). The experimental group was submitted to a personalised structured educational intervention during hospitalisation, in the nursing follow-up visit (two to three weeks after surgery) and over the phone (two months after surgery). Each group went through two evaluations: the first before the surgery, and the second three months after the surgery. The instruments used to collect data included: the sociodemographic and clinical characterisation questionnaire and the Eating Habits Scale. Non-parametric tests were used.
Results: The findings showed that 77.5% of the participants were male and 22.5% female. The participants’ average age was 67.35 ± 8.151. Results showed a significant improvement in the eating habits of both groups, with higher relevance in the experimental group and a reduction of the body mass index and waist perimeter exclusively in the experimental group.
Conclusions: Regarding people who have undergone coronary surgery, personalised structured educational nursing intervention is a useful tool in obtaining health benefits and in secondary prevention of cardiovascular disease. More extensive and comprehensive studies are recommended to verify the results and enhance their success.info:eu-repo/semantics/publishedVersio
Discriminative capacity and construct validity of the Clock Drawing Test in Mild Cognitive Impairment and Alzheimer's disease
Get PDFOBJECTIVES:
The aim of this study was to analyze the psychometric and diagnostic properties of the Clock Drawing Test (CDT), scored according to the Babins, Rouleau, and Cahn scoring systems, for Mild Cognitive Impairment (MCI) and Alzheimer's disease (AD) screening, and develop corresponding cutoff scores. Additionally, we assessed the construct validity of the CDT through exploratory and confirmatory factor analysis.
METHODS:
We developed a cross-sectional study of ambulatory MCI and AD patients, divided in two clinical groups (450 MCI and 250 mild AD patients) and a normal control group (N = 400). All participants were assessed with the CDT, Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) for convergent validity.
RESULTS:
The selected scoring systems presented adequate validity and reliability values. The proposed cutoff scores showed 60 to 65% sensitivity and 58 to 62% specificity to identify MCI patients. The corresponding values for AD were 84 to 90% sensitivity and 76 to 78% specificity. Exploratory and confirmatory factor analysis revealed that the Babins scoring system had good construct validity and allowed us to propose a three-factor model for this system.
CONCLUSIONS:
Our results confirmed the complexity of the CDT and support it as a cognitive screening instrument particularly sensitive to AD. The use of the CDT with MCI patients should be interpreted with more caution due to the lower sensitivity and specificity for milder forms of cognitive impairment.info:eu-repo/semantics/publishedVersio
Aphasia Rapid Test: Estudos de Tradução, Adaptação e Validação para a População Portuguesa
Get PDFClassical aphasia evaluation scales are too long to use in the context of acute stroke or as a monitoring tool. The Aphasia Rapid Test is a 26-point scale developed as a bedside assessment to rate aphasia severity in acute stroke patients in less than 3 minutes. We aimed to adapt and validate this scale for European Portuguese.info:eu-repo/semantics/publishedVersio
SIRT1 and mTOR interplay in bladder cancer: a potential therapeutic target
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Clínica da dor persistente – diagnóstico e terapêutica: Condropatia fémoro-patelar
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Facial emotion processing in schizophrenia: a review of behavioural and neural correlates
Get PDFSchizophrenia is one of the most severe psychiatric conditions, often associated with deficits in social cognition. Social cognition deficits are predictors of functionality in patients and involve theory of mind, attributional style, social perception,
and emotional processing. In particular, facial emotion processing (an important domain of emotional processing)
seems to be particularly related to cognitive and social functioning, and to positive and negative symptoms.
Patients with schizophrenia have difficulties in processing emotional faces; however, those impairments are still far from fully understood. In this review, we addressed the behavioural and neural correlates of facial emotion processing in schizophrenia. Despite studies showing impairments in both positive and negative faces, the most consistent findings
involved negative faces. Moreover, patients with schizophrenia showed abnormalities in the social brain neural circuit during facial emotion processing. While some studies described hypoactivation of brain areas related to emotional processing, such as the amygdala, others reported hyperactivation, leading to a high number of inconsistencies. The findings are limited by the experimental designs used, and the clinical and demographic characteristics of patients. Despite such variable findings, there has been growing interest in developing psychosocial interventions focused directly on social cognitive impairments in schizophrenia, with potential impact on patient’s ability to perceive emotional faces.
We provide a critical perspective on current evidence and suggest new pathways of research. The understanding of the mechanisms underlying facial emotion processing in schizophrenia could enhance functionality and quality of life by providing innovative approaches to the interpersonal difficulties patients frequently experience.info:eu-repo/semantics/publishedVersio
Sinovite vilonodular pigmentada do joelho. Tratamento da recidiva
Get PDFOs autores apresentam um raro caso de Sinovite Vilonodular Pigmentada do joelho, difusa,
recidivada numa paciente jovem, com grave repercussão nas suas atividades diárias. Houve
a necessidade de efetuar um tratamento localmente agressivo, com substituição total da
articulação do joelho utilizando componentes de revisão. O tratamento revelou-se eficaz sob
ponto de vista clínico e funcionalinfo:eu-repo/semantics/publishedVersio