Browsing by Author "Rodrigues, F"
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- Abordagem perioperatória do doente diabéticoPublication . Monteiro, S; Rodrigues, F; Pereira de Moura, JM; Moura, JA; Campos, B
- Alergia alimentar a rosáceas e frutos secos: a propósito de um caso clínicoPublication . Carrapatoso, I; Tavares, B; Pereira, C; Rodrigues, F; Barbosa, A; Chieira, C
- 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.
- Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice IntelectualPublication . Oliveira, R; Rodrigues, F; Venâncio, M; Saraiva, JM; Fernandes, BDevelopmental Delay (DD) and Intellectual Disability (ID), depending on the affected individual being under or above five years-old, result from environmental or genetic causes during the developmental period, that manifest as a subnormal functioning of intellectual abilities. In western countries there is a prevalence of about 3%, with a great impact in the individuals, their families, as well as in the society. Etiologic diagnosis remains unknown in about 65-80% of the cases. It is a clinically heterogeneous condition as it can be sporadic or familiar, encompassing an autosomal dominant, recessive or X-linked transmission. Etiologic investigation emphasizes the importance of the clinical and family history as well as the physical examination, with special care for dysmorphologic evaluation. The authors reviewed DD/ ID focusing not only on clinical diagnosis but mostly on genetic causes and etiologic investigation. The protocol presented is followed by the Medical Genetics Department of Coimbra’s Paediatrics Hospital, in accordance to the international consensus.
- Bactérias Multirresistentes Associadas aos Cuidados de Saúde num Hospital Pediátrico: Experiência de Cinco Anos Cuidados de Saúde num Hospital Pediátrico: Experiência de Cinco AnosPublication . Mação, P; Lopes, JC; Oliveira, H; Oliveira, G; Rodrigues, FINTRODUCTION: In recent years there has been an increase of infections caused by multidrug-resistant bacteria. Paediatric data are scarce, particularly at national level. AIMS: To analyse trends of health-care associated multidrug-resistant bacteria infections in a paediatric hospital. MATERIAL AND METHODS: A retrospective incidence study was conducted in medical, surgical and intensive care wards in a level III paediatric hospital, from January 2005 to December 2009. The studied multidrug-resistant bacteria were methicillin-resistant Staphylococcus aureus (MRSA), ESBL-producing bacilli, vancomycin-resistant Enterococcus spp, multidrug-resistant Pseudomonas aeruginosa (PA-MDR) and Acinetobacter baumannii resistant to carbapenems. Demographic, clinical and laboratory data, treatment and presence of risk factors for these infections were analysed. RESULTS: During the study period 106 multidrug-resistant bacteria were identified, related to 72 children, predominantly male (65.3%). The most frequently identified multidrug-resistant bacteria were MRSA (35.8%), PA-MDR (29.2%) and ESBL-producing bacilli (17.9%). Of the 106 multidrug-resistant bacteria, 45 (42.5%) were causing infection. During the study period the annual proportion of infections caused by multidrug-resistant bacteria went up from 32.0% in 2006 to 55.6% in 2009 (p = 0.376). The overall incidence rate of infection was 0.400 per 1 000 hospitalization-days, corresponding to 0.274 infections per 100 admissions, remaining stable over the five years. The most frequent infections were bloodstream (31.1%), intra-abdominal (20.0%), catheter-related (17.8%) and skin and soft tissue (11.1%). All children had risk factors and the most frequently identified were previous antibiotic therapy and underlying chronic disease (> 90%). Six children (13.3%) died during hospitalisation. CONCLUSIONS: During the study period, there was an increase in the proportion of multidrug-resistant bacteria but with no statistical significance. The overall incidence rate of multidrug-resistant bacteria infection remained stable. MRSA were the most frequently identified bacteria, followed by PA-MDR and ESBL-producing bacilli. Bloodstream infections were the most frequent infections, followed by intra-abdominal and catheter-related. All children had risk factors, mainly previous antibiotic therapy and chronic disease.
- Comparison between skin prick tests and ImmunoCAP ISAC in the determination of sensitisation to aeroallergensPublication . Sousa, N; Almeida, E; Machado, D; Rodrigues, F; Carrapatoso, I; Faria, E; Ribeiro, H; Chieira, C
- Contribution of in vitro methods to the study of fruit allergy clinical patternsPublication . Sousa, N; Carrapatoso, I; Faria, E; Ribeiro, F; Rodrigues, F; Ribeiro, H; Chieira, C
- Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 genePublication . Santos, MI; Beleza-Meireles, A; Loureiro, S; Fonseca, M; Reis, CF; Rodrigues, F; Ramos, F; Ramos, L; Cardoso, E; Saraiva, JMAims: Although there are more than 400 cases of Kabuki syndrome described in the literature, it is believed that this syndrome is under-diagnosed. Most cases occur sporadically, despite cases with autosomal dominant familial transmission being described. Here we describe three cases identified in the same family. Cases description: A family (mother and two children) was diagnosed with Kabuki syndrome. The three patients show the typical characteristics (facial appearance, musculoskeletal abnormalities, cognitive impairment, growth retardation and peculiar dermatoglyphic pattern) associated with other anomalies described in the syndrome (congenital heart disease and increased susceptibility to infections). Genetic studies revealed a nonsense mutation c.14710 C > T (p.Arg4904X) in the MLL2 gene in the three members of the family. Conclusions: With the description of another case of familial Kabuki syndrome, the authors wish to illustrate the autosomal dominant inheritance with variable expressivity, which are present in this situation, and to alert to the need for a rigorous clinical and molecular evaluation of the affected patient’s relatives, allowing appropriate genetic counseling.
- Os dias iniciais da infecção pelo vírus da gripe pandémica (H1N1) 2009 na região centro de PortugalPublication . Duque, V; Cordeiro, E; Mota, V; Morais, C; Rodrigues, F; Coelho, F; Saraiva da Cunha, JG; Meliço-Silvestre, ABACKGROUND: The first case of pandemic (H1N1) 2009 virus infection was diagnosed in the central region of Portugal on June 16, 2009, in a woman infected in Canada. METHODS: The aim of our study was, first to characterize the clinical and epidemiologic aspects of all the patients with clinical manifestations included in the definition of case for investigation with samples submitted to diagnosis of the pandemic (H1N1) 2009 virus infection, in the central region of Portugal; second to assess the precision of the case definition of case for investigation considered in the study according to the presence or the absence of fever at the moment of clinical observation. We reviewed the medical records of all the patients presenting with Influenza like-illness classified as case for investigation and the first cases of patients infected with the new pandemic (H1N1) 2009 virus, diagnosed in the central region of Portugal during the pandemic period between June and August, 2009, were analyzed. Real-time reverse-transcriptase polymerase-chain-reaction (RT-PCR) testing was used to confirm the pandemic (H1N1) 2009 virus infection. Data collection was performed on a standardized paper format in agreement with the General Health Directorate. Results and discussion: Pandemic (H1N1) 2009 virus infection was confirmed in 255 patients. Overall, median age was 23 years and 42.7 % were included in the category of 20 to 29 years. Confirmed infection in patients with less than 2 years or greater than 50 years was a rare event. The first cases were imported from Europe, namely France, Spain and England. On a second phase, pandemic (H1N1) 2009 virus infection was acquired in the south of Portugal (Algarve), before de diagnosis of the first domestic case. The incidence rate for pandemic (H1N1) 2009 virus infection was 10.7 per 100,000 persons and was different according to the district. It was higher in the district of Coimbra and Guarda were the main roads connecting to Europe are. The median calculated incubation period for the for pandemic (H1N1) 2009 virus infection was 2 days. The length of the clinical manifestations until the patients look for medical observation had a median time of 2 days. All the cases were of mild to moderate severity. No deaths were observed. CONCLUSIONS: The early days of pandemic (H1N1) 2009 virus infection was mild in our region. Most affected patients were young adults, with the extreme categories ages of life being spared. Early detection and diagnosis, combined with stringent isolation and treatment procedures could have slowed the spread of the infection in our region.
- Doença Pulmonar Obstrutiva Crónica em Portugal: estudoPneumobil (1995) e estudo de prevalência de 2002 revisitadosPublication . Cardoso, J; Ferreira, JR; Almeida, J; Santos, JM; Rodrigues, F; Matos, MJ; Gaspar, MBACKGROUND: Chronic Obstructive Pulmonary Disease (COPD) has been a leading cause of morbidity and mortality worldwide, over the years. In 1995, the implementation of a respiratory function survey seemed to be an adequate way to draw attention to neglected respiratory symptoms and increase the awareness of spirometry surveys. By 2002 there were new consensual guidelines in place and the awareness that prevalence of COPD depended on the criteria used for airway obstruction definition. The purpose of this study is to revisit the two studies and to turn public some of the data and respective methodologies. METHODS: From Pneumobil study database of 12,684 subjects, only the individuals with 40+ years old (n = 9.061) were selected. The 2002 study included a randomized representative sample of 1,384 individuals with 35-69 years old. RESULTS: The prevalence of COPD was 8.96% in Pneumobil and 5.34% in the 2002 study. In both studies, presence of COPD was greater in males and there was a positive association between presence of COPD and older age groups. Smokers and ex-smokers showed a higher proportion of cases of COPD. CONCLUSIONS: Prevalence in Portugal is lower than in other European countries. This may be related to lower smokers' prevalence. Globally, the most important risk factors associated with COPD were age over 60 years, male gender and smoking exposure. All aspects and limitations regarding different recruitment methodologies and different criteria for defining COPD cases highlight the need of a standardized method to evaluate COPD prevalence and associated risks factors, whose results can be compared across countries, as it is the case of BOLD project.