Browsing by Author "Santos, M"
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- Acute Confusional State after Inhaled CorticotherapyPublication . Santos, M; Mota, D; Venâncio, A; Ribeiro, L; Monteiro, JBackground: The connection between corticotherapy and neuropsychiatric symptoms is widely known, being one of the first questions we need to assess when presenting with first episode psychiatric symptoms or confusional state. Aims: To date, data on cases related to inhaled corticotherapy and neuropsychiatric effects is scarce. In this paper we describe a rare case in a young woman. Methods: The clinical case presented led us to try to understand the data published on the subject in order to discuss it in greater length. Results and Conclusions: We present and discuss a 27-year-old patient’s case, with no previous psychiatric disease, who was admitted to our Psychiatric ward after the onset of severe acute behavioural disturbance characterized by aggressiveness, visual and auditory hallucinatory activity, misidentification and altered conscience status. It was later found that seven days earlier she had been prescribed inhaled corticotherapy for a minor respiratory infection. A few days after corticotherapy withdrawal, the clinical symptoms improved significantly.
- An Adult with Episodic Abnormal Limb PosturingPublication . Santos, M; Rebordão, L; Leitão, L; Costa, C; Lobo, P
- Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardationPublication . Santos, M; Yan, J; Temudo, T; Oliveira, G; Vieira, J; Fen, J; Sommer, S; Maciel, PIn this work we explored the role of the 3'UTR of the MECP2 gene in patients with clinical diagnosis of RTT and mental retardation; focusing on regions of the 3'UTR with almost 100% conservation at the nucleotide level among mouse and human. By mutation scanning (DOVAM-S technique) the MECP2 3'UTR of a total of 66 affected females were studied. Five 3'UTR variants in the MECP2 were found (c.1461+9G>A, c.1461+98insA, c.2595G>A, c.9961C>G and c.9964delC) in our group of patients. None of the variants found is located in putative protein-binding sites nor predicted to have a pathogenic role. Our data suggest that mutations in this region do not account for a large proportion of the RTT cases without a genetic explanation.
- Avaliação da prevalência e caracterização da rinossinusite nos cuidados de saúde primários em PortugalPublication . Barros, E; Silva, A; Vieira, A; André, C; Silva, D; Prata, J; Ferreira, J; Santos, M; Gonçalves, P; Leiria, E; Gonçalves, N; Andrade, SAbstract: To determine RS prevalence, diagnosed at the Portuguese Primary Health Care Centres (PHCC), and to assess diagnostic and treatment practices. Study Design: Epidemiologic, cross-sectional study. Material and Methods:A cohort of subjects attending general practice medical appointments, in selected PHCC, was evaluated. Results: Between May/2008 and June/2009, 1,201 subjects were included with a mean age of 41.7+13.2 years, of which 71% were female. The total prevalence of RS was 19.2%, [n=231; 17.1%, 21.5%; 95% CI]. The prevalence of acute RS was 7.4%, [n=89; 6.0%; 9.0%; 95% CI], and of chronic RS was 13.% [n=156; 11.2%, 15.0%; IC 95%]. The estimated prevalence of RS is high. About 92% of patients with RS presented at least one symptom for disease diagnosis (p<0.001). Conclusions: Half the patients (50%) with RS had already been submitted to, at least, one medical exam. Same relevant difference between RS diagnostic and treatment guidelines and the current practice in Primary Health Care Centres were found.
- Diagnóstico e evolução imagiológica das lesões cerebrais da encefalopatia hipoglicémicaPublication . Jonet, M; Maia, R; Santos, MA hipoglicémia, situação clínica comum e muitas vezes auto-limitada, é a emergência metabólica e endócrina mais fre- quente na prática clínica. O caso apresentado reporta-se a um homem de 31 anos, com hábitos alcoólicos acentuados, trazido ao serviço de urgência por crise convulsiva tónico-clónico generalizada após três dias de jejum alimentar, mantendo ingestão alcoólica abundante. À admissão pontuava 6 na escala de Glasgow, apresentava-se em estado pós-crítico e a glicémia capilar era 21mg/dL. A tomografia computorizada crânio-encefálica mostrou edema cerebral difuso; iniciaram-se correcção da glicémia e medidas anti-edema. O estudo complementar (avaliação analítica completa, electro-encefalograma e ressonância magnética crânio-encefálica) confirmou o diagnóstico de encefalopatia hipoglicémica. Verificou-se melhoria clínica, registan- do-se apenas alteração da marcha à data da alta. Esta entidade amplamente reconhecida, com morbilidade e mortalidade significativas quando o tratamento não é iniciado atempadamente. A identificação precoce, baseada no reconhecimento de padrões clínicos, eletroencefalográficos e imagiológicos, é essencial para um tratamento eficaz.
- Disección de la arteria vertebral asociada a síndrome MURCSPublication . Santos, M; Cruz, S; Casimiro, C; Biscoito, M; Costa, MLa asociación MURCS (OMIM 60176), también conocida como síndrome de Mayer-RokitanskyKüster-Hauser de tipo II, constituye una rara malformación que afecta aproximadamente a una de cada 50.000 mujeres [1,2]. Consiste en la combinación de aplasia de los conductos de Müller, aplasia o ectopia renal unilateral y displasia de los somitas cervicodorsales, relacionado con deformidades vertebrales del espectro Klippel-Feil, y asociado o no a malformaciones occipitoatloideas [2]. La disección de la arteria vertebral es una causa poco frecuente de ictus, que puede asociarse a anomalías del desarrollo craneocervical [3]. Se describe un caso de ictus causado por disección de la arteria vertebral en una paciente con asociación MURCS.
- DOK7 myasthenic syndrome with subacute adult onset during pregnancy and partial response to fluoxetine.Publication . Santos, M; Cruz, S; Peres, J; Santos, L; Tavares, P; Basto, JP; Salgado, V; Herrero Valverde, ADOK7 congenital myasthenic syndrome (DOK7-CMS) generally presents early in life and is treated with salbutamol or ephedrine. This report describes an atypical case of a 39-year-old woman who presented with proximal upper limb weakness in the third trimester of pregnancy and was initially diagnosed with seronegative myasthenia gravis. Dramatic clinical worsening under pyridostigmine and further inefficacy of steroids, intravenous human immunoglobulin (IVIG) and plasma exchange (PLEX) led to the presumptive diagnosis of a CMS. Initially, a slow-channel CMS was regarded as more probable due to prominent finger extension weakness. Accordingly, fluoxetine was started and a lengthy improvement was seen. Clinical deterioration occurred after fluoxetine withdrawal, when a c.1124_1127dup homozygous mutation was detected in DOK7 gene. Afterwards, salbutamol was started and the patient became asymptomatic. This case highlights the importance of considering CMS before an adult-onset myasthenic syndrome and suggests a benefit from fluoxetine not previously reported in DOK7-CMS.
- Implantation of a Dual-Chamber Pacemaker in a Patient With Situs Inversus and Dextrocardia Using a Novel Ultrasound TechniquePublication . Augusto, JB; Faustino, M; Santos, M; Cabanelas, N; Madeira, F; Morai, CWe report a case of a 43-year-old man with situs inversus and dextrocardia who was admitted with syncope in the setting of complete atrioventricular block. The complex anatomy poses a considerable challenge to transvenous permanent pacemaker implantation. We employed a novel technique using vascular ultrasound and agitated saline solution to assist with lead positioning. This technique could be useful in pediatric populations or younger patients, in whom the use of ionizing radiation is an important issue.
- Mild troponin elevation in patients admitted to the emergency department with atrial fibrillation: 30-day post-discharge prognostic significance.Publication . Augusto, J; Santos, M; Roque, D; Faria, D; Urzal, J; Morais, J; Gil, V; Morais, CPatients with atrial fibrillation (AF) often undergo troponin (Tn) testing in the emergency department (ED), but the clinical significance of mildly elevated values remains unclear. We evaluated short-term 30-day post-discharge outcomes in AF patients according to troponin levels. Out of 2181 AF patients evaluated in the ED (June 2014 to June 2015), we included consecutive admitted patients. Patients were grouped into those with normal Tn values (≤ 0.05 ng/mL), mild elevations (> 0.05-0.5 ng/mL, 10× URL) and marked elevations (> 0.5 ng/mL). Outcomes included acute coronary syndrome (ACS), revascularization, all-cause mortality and combined end point; the secondary outcome was ischemic stroke. A total of 348 patients (90.9%) had Tn testing, which was associated with longer in-hospital stay (median 2.04 vs. 0.74 days in unmeasured Tn, p = 0.014); 37.1% did not have clinical suspicion of ACS. Mild Tn elevation occurred in 19.0% and 6.3% had markedly elevated values. Compared to normal values, mild elevations had higher absolute incidence, without statistical significance, of ACS (1.5 vs. 0.0%, p = 0.202), revascularization (1.5 vs. 0.0%, p = 0.202), all-cause mortality (12.1 vs. 6.9%, p = 0.200), combined end point (13.3 vs. 6.9%, p = 0.084) or ischemic stroke (4.5 vs. 2.3%, p = 0.394). Tn testing is routine in admitted AF patients, even without suspicion of ACS, and is associated with prolonged stay. Mild Tn elevation is associated with a nonsignificant trend toward higher adverse events. Larger-scale studies are needed to evaluate the cost-effectiveness of Tn testing for prognosis in admitted AF patients, as this prolongs stay and has unclear impact on patient management.
- Satisfação com o Internato Médico em PortugalPublication . Vieira, M; Godinho, P; Gaibino, N; Dias, R; Sousa, A; Madanelo, I; Ribeiro-Mourão, F; Brandão, M; Duarte, S; Meirinhos, T; Catarino, A; Espírito Santo, C; Caiado, R; Marques, R; Ferreira, A; Ramalheira, C; Jorge, J; Losada, M; Santos, M; Oliveira, E; Farias, J; Silva, JINTRODUCTION: In the last years, the global context of medical education and Medical Residency programs in Portugal suffered substantial changes. The primary objective of this study was to evaluate and characterize medical residents ́ satisfaction with medical residency programs in Portugal and to identify features that could be improved. MATERIAL AND METHODS: We utilized as model the survey Postgraduate Hospital Educational Environment Measure that has been developed in the United Kingdom and is speci cally targeted to medical residents. The survey was translated and adapted to the Portuguese reality. The survey was available online during April and May of 2016. RESULTS: A total of 3456 responses were obtained, corresponding to a response rate of 35%. Endocrinology/Nutrition, Cardiology, Anesthesiology, Family Physician and Gastroenterology were the specialties in which the degree of satisfaction was higher, while Forensic Medicine, Medical Oncology, Internal Medicine, General Surgery and Pneumology showed the lowest level of satisfaction. DISCUSSION: This study presented a high response rate when compared to previous studies. Portuguese medical residents presented high levels of satisfaction. Depending on year of medical residency, region, type of specialty and type of hospital marked asymmetries were noticed. CONCLUSION: The survey ́s results should constitute in the future a support tool for the implementation of local and national measures relating to the medical residency. It is advisable to regularly conduct satisfaction surveys to medical residents.