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Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable an...
Mariath,Luiza Monteavaro; Kiszewski,Ana Elisa; Frantz,Jeanine Aparecida; Siebert,Marina; Matte,Ursula; Schuler-Faccini,LavíniaAbstract Background: Epidermolysis bullosa is characterized by cutaneous fragility and blistering. Historically, diagnosis is achieved by immunofluorescence mapping or transmission electron microscopy, both involving biopsy procedures. Genetic analysis, especially through next-generation sequencing, is an important tool for the diagnosis of this disease. In Brazil, access to diagnostic methods is limited, and c...
Prevalence of congenital anomalies at birth among live births in the state of M...
Reis,Luzivan Costa; Barbian,Márcia Helena; Cardoso-dos-Santos,Augusto César; Silva,Elis Vanessa de Lima; Boquett,Juliano André; Schuler-Faccini,LavíniaABSTRACT: Objectives: To analyze the prevalence at birth and the spatial and temporal distribution of congenital anomalies (CAs) among live births in the state of Maranhão in 2001 to 2016. To describe demographic, gestational and neonatal variables of interest. Methods: Ecological, population-based study, using secondary data from the Live Birth Information System (SINASC). Annual prevalence of total and per-gr...
Inherited epidermolysis bullosa: update on the clinical and genetic aspects,
Mariath,Luiza Monteavaro; Santin,Juliana Tosetto; Schuler-Faccini,Lavínia; Kiszewski,Ana ElisaAbstract Inherited epidermolysis bullosa is a group of genetic diseases characterized by skin fragility and blistering on the skin and mucous membranes in response to minimal trauma. Epidermolysis bullosa is clinically and genetically very heterogeneous, being classified into four main types according to the layer of skin in which blistering occurs: epidermolysis bullosa simplex (intraepidermal), junctional epi...
Prevalence and causes of congenital microcephaly in the absence of a Zika virus...
Herber,Silvani; Silva,André A.; Sanseverino,Maria Teresa V.; Friedrich,Luciana; Ranieri,Tani M.S.; Favreto,Catia; Fraga,Lucas R.; Terra,Anna P.Abstract Objective: The aim of this study was to identify the causes of congenital microcephaly in Rio Grande do Sul, a state in southern Brazil, where no ZIKV outbreak was detected, from December 2015 to December 2016, which was the period when ZIKV infection was at its peak in northeast Brazil. Methods: This was a cross-sectional study where all notifications of congenital microcephaly in the state of Rio Gra...
Population medical genetics: translating science to the community
Giugliani,Roberto; Bender,Fernanda; Couto,Rowena; Bochernitsan,Aline; Brusius-Facchin,Ana Carolina; Burin,Maira; Amorim,Tatiana; Acosta,Angelina XavierAbstract Rare genetic disorders are currently in the spotlight due to the elevated number of different conditions and significant total number of affected patients. The study of these disorders is extremely helpful for the elucidation of physiological processes related with complex disorders. Isolated populations are instrumental for the study of genetic disorders, considering their homogeneity and high proport...
Music genetics research: Association with musicality of a polymorphism in the A...
Mariath,Luiza Monteavaro; Silva,Alexandre Mauat da; Kowalski,Thayne Woycinck; Gattino,Gustavo Schulz; Araujo,Gustavo Andrade de; Figueiredo,Felipe GrahlAbstract Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully u...
Genetic counseling and presymptomatic testing programs for Machado-Joseph disea...
Schuler-Faccini,Lavínia; Osorio,Claudio Maria; Romariz,Flavia; Paneque,Milena; Sequeiros,Jorge; Jardim,Laura BannachMachado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling p...
GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammograp...
Aguiar,Ernestina Silva de; Giacomazzi,Juliana; Schmidt,Aishameriane Venes; Bock,Hugo; Saraiva-Pereira,Maria Luiza; Schuler-Faccini,LavíniaGenetic polymorphisms in genes related to the metabolism of xenobiotics, such as genes of the glutathione S-transferases (GSTM1, GSTT1, and GSTP1) superfamily have been associated with an increased risk for breast cancer (BC). Considering the high incidence of BC in the city of Porto Alegre in southern Brazil, the purpose of this study was to characterize genotypic and allelic frequencies of polymorphisms in GS...