Browsing by Author "Machado, Pedro"
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- Casos práticos de validação e controlo da qualidade em laboratórios de ensaiosPublication . Silva, Fátima; Machado, Pedro
- Differential regulation of transition zone and centriole proteins contributes to ciliary base diversityPublication . Jana, Swadhin Chandra; Mendonça, Susana; Machado, Pedro; Werner, Sascha; Rocha, Jaqueline; Pereira, António; Maiato, Helder; Bettencourt-Dias, MónicaCilia are evolutionarily conserved structures with many sensory and motility-related functions. The ciliary base, composed of the basal body and the transition zone, is critical for cilia assembly and function, but its contribution to cilia diversity remains unknown. Hence, we generated a high-resolution structural and biochemical atlas of the ciliary base of four functionally distinct neuronal and sperm cilia types within an organism, Drosophila melanogaster. We uncovered a common scaffold and diverse structures associated with different localization of 15 evolutionarily conserved components. Furthermore, CEP290 (also known as NPHP6) is involved in the formation of highly diverse transition zone links. In addition, the cartwheel components SAS6 and ANA2 (also known as STIL) have an underappreciated role in basal body elongation, which depends on BLD10 (also known as CEP135). The differential expression of these cartwheel components contributes to diversity in basal body length. Our results offer a plausible explanation to how mutations in conserved ciliary base components lead to tissue-specific diseases
- EpiReumaPt - the study of rheumatic and musculoskeletal diseases in Portugal: a detailed view of the methodologyPublication . Rodrigues, Ana M.; Gouveia, Nélia; Costa, Leonor Pereira da; Eusébio, Mónica; Ramiro, Sofia; Machado, Pedro; Mourão, Ana Filipa; Silva, Inês; Laires, Pedro; Sepriano, Alexandre; Araújo, Filipe; Coelho, Pedro Simões; Gonçalves, Sónia; Zhao, Ana; Fonseca, João Eurico; Almeida, J. M. Caldas de; Tavares, Viviana; Silva, José António Pereira da; Barros, Henrique; Cerol, Jorge; Mendes, Jorge; Carmona, Loreto; Canhão, Helena; Branco, Jaime C.Rheumatic and musculoskeletal diseases (RMD) are prevalent and leading causes of disability and consumption of healthcare and social resources. EpiReumaPt is a national population-based survey developed by the Portuguese Society of Rheumatology that aimed to estimate the prevalence of RMDs and determine their impact on function, quality of life, mental health and use of healthcare resources. This article describes in detail the design, methodology and planned analyses of EpiReumaPt. Recruitment started in September 2011 and finished in December 2013. This study involved a three-stage approach. The first step was a face-to-face survey performed by trained interviewers at the household of 10,661 subjects who where randomly selected by a stratified multistage sampling. A highly sensitive screening questionnaire for RMDs was used. Secondly, participants who screened positive (64%) for at least one RMD as well as 20% of individuals with a negative screening were invited for assessment by a rheumatologist. In total, 3,877 subjects participated in this second phase, where they were also invited to donate a blood sample to be stored at the Biobanco-IMM. History and physical examination, followed by appropriate laboratory and imaging tests were performed. At the end of the visit, the rheumatologist established a diagnosis. Finally, a team of three experienced rheumatologists reviewed all the clinical data and defined the diagnoses according to previously validated criteria. The EpiReumaPt dataset, containing data from several questionnaires, various clinical measurements and information from laboratory and imaging tests, comprises an invaluable asset for research. The large amount of information collected from each participant and the large number of participants, with a wide age range covering and being representative of the adults from the entire country, makes EpiReumaPt the largest study of RMDs performed in Portugal.
- EpiReumaPt: how to perform a national population based study - a practical guidePublication . Gouveia, Nélia; Rodrigues, Ana M.; Ramiro, Sofia; Machado, Pedro; Costa, Leonor Pereira da; Mourão, Ana Filipa; Silva, Inês; Rego, Tânia; Laires, Pedro; André, Rui; Mauricio, Luís; Romeu, José C.; Tavares, Viviana; Cerol, Jorge; Canhão, Helena; Branco, Jaime C.BACKGROUND: The aim of this article was to describe and discuss several strategies and standard operating procedures undertaken in the EpiReumaPt study - which was the first Portuguese, national, cross-sectional population-based study of Rheumatic and Musculoskeletal Diseases (RMD). METHODS: The technical procedures, legal issues, management and practical questions were studied, analyzed and discussed with relevant stakeholders. During the 1st phase of EpiReumaPt the coordination team and Centro de Estudos de Sondagens e Opinião (CESOP) worked to recruit and interview 10,661 subjects. The 2nd phase involved the participation of a multidisciplinary team, several local authorities, a specialized vehicle ("mobile unit") and a specific software program for the clinical appointments. The development of specific recruitment strategies improved the participation rate. Blood samples were collected and sent to Biobanco-IMM and to a central lab for immediate measurements. In the 3rd phase the RMD diagnosis were validated by a team of three experienced rheumatologists - clinical data, imaging and lab test results were revised according to previously published classification criteria. CONCLUSION: EpiReumaPt was a nationwide project successfully conducted, which followed critical logistic/coordination and research strategies. EpiReumaPt methodology and coordination could be used as an example for other epidemiologic endeavors and public health policies.