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Full-Text Articles in Medicine and Health Sciences
Clinical Phenotypes And Abcc6 Gene Mutations In Brazilian Families With Pseudoxanthoma Elasticum., Caroline Silvério Faria, Qiaoli Li, Haitao Guo, Jouni Uitto, Sylvia Satomi Takeno, Marilia De Arruda Cardoso Smith, Dertia Villalba Freire-Maia
Clinical Phenotypes And Abcc6 Gene Mutations In Brazilian Families With Pseudoxanthoma Elasticum., Caroline Silvério Faria, Qiaoli Li, Haitao Guo, Jouni Uitto, Sylvia Satomi Takeno, Marilia De Arruda Cardoso Smith, Dertia Villalba Freire-Maia
Department of Dermatology and Cutaneous Biology Faculty Papers
Pseudoxanthoma elasticum (PXE; OMIM 264800) manifests with characteristic skin lesions of yellowish papules which coalesce into plaques of inelastic and leathery skin on the predilection sites (1). The ocular findings consist of angioid streaks, choroidal neovascularization and subretinal hemorrhages resulting in loss of visual acuity and occasional blindness. Cardiovascular problems include hypertension, intermittent claudication, and occasional myocardial infarcts and stroke. The prevalence of PXE is estimated to be in the range of 1:50,000-70,000 and to be more frequent in females than in males. The diagnosis can be challenging to clinicians due to late-onset of clinical manifestations and considerable heterogeneity. PXE …
Delivering Genetic Education And Genetic Counseling For Rare Diseases In Rural Brazil, A.X. Acosta, K Abe-Sandes, R Giugliani, Alan H. Bittles
Delivering Genetic Education And Genetic Counseling For Rare Diseases In Rural Brazil, A.X. Acosta, K Abe-Sandes, R Giugliani, Alan H. Bittles
Research outputs 2013
Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland …
Polycyclic Evolution Of Camboriú Complex Migmatites, Santa Catarina, Southern Brazil: Integrated Hf Isotopic And U-Pb Age Zircon Evidence Of Episodic Reworking Of A Mesoarchean Juvenile Crust, Miguel Angelo Stipp Basei, Mario Da Costa Campos Neto, Angela Pacheco Lopes, Allen Phillip Nutman, Dunyi Liu, Kei Sato
Polycyclic Evolution Of Camboriú Complex Migmatites, Santa Catarina, Southern Brazil: Integrated Hf Isotopic And U-Pb Age Zircon Evidence Of Episodic Reworking Of A Mesoarchean Juvenile Crust, Miguel Angelo Stipp Basei, Mario Da Costa Campos Neto, Angela Pacheco Lopes, Allen Phillip Nutman, Dunyi Liu, Kei Sato
Faculty of Science, Medicine and Health - Papers: part A
The Camboriú Complex is the only gneissic-migmatitic inlier within the Neoproterozoic Brusque Group supracrustal rocks, in the northernmost part of the Dom Feliciano Belt, southern Brazil. It comprises the Morro do Boi migmatites and the diatexitic Ponta do Cabeço Granite. Zircon U-Pb dating of migmatites and associated granitic neosomes shows that crustal evolution started in the Paleo- Mesoarchean (3.3-3.0 Ga), continued with events through the Neoarchean and Paleoproterozoic and ended in the Neoproterozoic (0.64-0.61 Ga). Integration of zircon Hf isotopic data and U-Pb ages indicate that juvenile crustal accretion was restricted to the Archean and that afterwards intracrustal reworking predominated. …