15 documents found, page 1 of 2
Genetic variants in the IFNGR2 locus associated with severe chronic Q fever
David, Suzana; Castro, Liliana; Duarte, Elsa Leclerc; Gaspar, Ulisses; da Costa Rodrigues, Maria Rosário; Cueto-Rojo, Maria Vanessa; Mendonça, JoanaQ fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, in...
Genetic variants in the IFNGR2 locus associated with severe chronic Q fever
David, Susana; Castro, Liliana; Duarte, Elsa; Gaspar, Ulisses; Rodrigues, Maria Rosário da Costa; Cueto-Rojo, Maria Vanessa; Mendonça, JoanaQ fever is a highly contagious zoonosis capable of causing large outbreaks of important health and economic consequences. Host genetic factors are believed to influence the development of severe chronic Q fever following the infection by the etiological agent, Coxiella burnetii. Targetted next generation sequencing (NGS) was performed in a case-control genetic association study on 53 confirmed Q fever cases, in...
AORTIC LACERATION DURING VERESS NEEDLE INSERTION: A LAPAROSCOPIC DISASTER
Machado, Miguel; Malheiro, Luís; Gaião, Sérgio; Paiva, José Artur; Barbosa, Laura ElisabeteIntroduction: Over 50% of complications related to laparoscopy occur during the entry phase for pneumoperitoneum and trocar insertion. Major vascular injuries, although infrequent (0.04–0.1% of laparoscopic procedures), can lead to significant morbidity and mortality, with 13%–50% going undetected immediately during surgery. Major vascular injuries rank as the second most common cause of death during laparoscop...
Whole human genome 5’-mC methylation analysis using long read nanopore sequencing
Silva, Catarina; Machado, Miguel; Ferrão, José; Sebastião Rodrigues, António; Vieira, LuísMethylation microarray and bisulphite sequencing are often used to study 5'-methylcytosine (5'-mC) modification of CpG dinucleotides in the human genome. Although both technologies produce trustworthy results, the evaluation of the methylation status of CpG sites suffers from the potential side effects of DNA modification by bisulphite and/or the ambiguity of mapping short reads in repetitive and highly homolog...
Avaliação do desempenho de uma core-facility de sequenciação genómica especiali...
Vieira, Luís; Silva, Catarina; Duarte, Sílvia; Mendonça, Joana; Carpinteiro, Dina; Sampaio, Daniel A.; Ferrão, José; Santos, Daniela; Machado, MiguelA Unidade de Tecnologia e Inovação (UTI) do Departamento de Genética Humana foi criada em 2009 pelo despacho normativo n.º 15/2009. Apesar de estar integrada num departamento técnico científico, esta unidade constituiu-se desde logo como core-facility de sequenciação genómica do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA). Este papel envolve uma gestão contínua de prioridades dos serviços a prestar ...
Boas práticas ao Serviço do Utente - Centro Hospitalar do Tâmega e Sousa, EPE
Vaz de Almeida, Cristina; Ribeiro Nunes, José; Rocha, Amélia; Dias, Ana Isabel; Marinho, Bruno; Maia, Carla; Botelho, Carlos; Fagundes, CláudiaO CHTS pretende e ambiciona na literacia em saúde, na vertente do cidadão, que haja mais igualdades em saúde e que, este cidadão perante a necessidade de tomar decisões de forma autónoma (muitas vezes de elevada complexidade), sobre a promoção de saúde, prevenção das doenças ou seu tratamento, esteja informado e com conhecimentos para o fazer. Pretende que o cidadão seja capaz de obter melhor acesso aos cuidado...
VENASEAL: A GOOD SOLUTION IN THE TREATMENT OF SEVERE SUPERFICIAL VENOUS INSUFFI...
Machado, Marta; Machado, Miguel; Matos, Arlindo; Machado, RuiIntroduction: Chronic venous disease is a prevalent condition that worsens with age and is associated with poor quality of life.The treatment of varicose veins (VV) has multiple alternatives, and different practices across Europe.The aim of this article is to analyze the treatment of very elderly patients with severe forms of chronic venous disease using the VenaSeal technique. Method, Material and Results: Rep...
MAY-THURNER SYNDROME: THE IMPORTANCE OF IVUS IN THE DIAGNOSTIC AND THERAPEUTIC ...
Machado, Marta; Machado, Miguel; Machado, Arlindo; Machado, RuiIntroduction : May Thurner Syndrome (MTS) is a clinical condition as a result of an anatomical compression of the left common iliac vein by the fifth lumbar vertebra posteriorly, and by the right common iliac artery anteriorly associated with symptomatology. Affirming the diagnosis can be difficult and intravascular ultrasonography (IVUS) can help in the definitive decision. Clinical Case: A 43 years old man wi...
A ubiquitous service-oriented automatic optical inspection platform for textile...
Gonzalez, Dibet Garcia; Castilla, Yusbel Chavez; Shaharadaby, Somayeh; Mackay, Ana Margarida; Soares, Lúcia; Guimarães, Pedro; Morais, FranciscoWithin a highly competitive market context, quality standards are vital for the textile industry, in which related procedures to assess respective manufacture still mainly rely on human-based visual inspection. Thereby, factors such as ergonomics, analytical subjectivity, tiredness and error susceptibility affect the employee's performance and comfort in particular and impact the economic healthiness of each co...
Lactobacillus mulieris sp. nov., a new species of Lactobacillus delbrueckii group
Rocha, Joana; Botelho, João; Ksiezarek, Magdalena; Ugarcina Perovic, Svetlana; Machado, Miguel; Carrico, João André; Pimentel, Lígia L.; Salsinha, SofiaOne Gram-stain-positive, non-motile, non-spore-forming, catalase-negative, and coccobacilli-shaped strain, designated c10Ua161MT, was isolated from a urine sample from a reproductive-age healthy woman. Comparative 16S rRNA gene sequence analysis indicated that strain c10Ua161MT belonged to the genus Lactobacillus . Phylogenetic analysis based on pheS and rpoA gene sequences strongly supported a clade encompassi...