25 documents found, page 1 of 3
Genetics of COVID-19
Raskin,SalmoAbstract Objective This narrative, non-systematic review provides an update on the genetic aspects of the SARS-CoV-2 virus and its interactions with the human genome within the context of COVID-19. Although the main focus is on the etiology of this new disease, the genetics of SARS-CoV-2 impacts prevention, diagnosis, prognosis, and the development of therapies. Data source A literature search was conducted on ...
Brazilian guidelines for the diagnosis and treatment of cystic fibrosis
Athanazio,Rodrigo Abensur; Silva Filho,Luiz Vicente Ribeiro Ferreira da; Vergara,Alberto Andrade; Ribeiro,Antônio Fernando; Riedi,Carlos AntônioABSTRACT Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It is a multisystem disease that most often affects White individuals. In recent decades, various advances in the diagnosis and treatment of CF have drastically changed the scenario, resulting in a significant increase in survival and quality of life. In Brazil, the current neonatal screening ...
Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3
Teive,Hélio A. G.; Moro,Adriana; Arruda,Walter O.; Raskin,Salmo; Teive,Gladys M. G.; Dallabrida,Norberto; Munhoz,Renato P.ABSTRACT The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of the state of Santa Catarina with a large population of Portuguese/Azorean descent.
Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian c...
Teive,Hélio Afonso Ghizoni; Moro,Adriana; Moscovich,Mariana; Arruda,Walter Oleskho; Munhoz,Renato Puppi; Raskin,Salmo; Teive,Gladys Mary GhizoniSpinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry. The authors report the history of SCA10 families from the south of Brazil (the states of Paraná and Santa Catarina), emphasizing the Belgian-Amerindian connection.
Cervical dystonia: about familial and sporadic cases in 88 patients
Camargo,Carlos Henrique F.; Camargos,Sarah Teixeira; Becker,Nilson; Munhoz,Renato Puppi; Raskin,Salmo; Cardoso,Francisco Eduardo C.Cervical dystonia (CD) affects the musculature of the neck in a focal way or associated to other parts of the body. The aim of this study was to identify clinical differences between patients with dystonia patients without family history and with family history (sporadic). Eighty-eight patients with CD were recruited in a Movement Disorders Clinic between June of 2008 and June of 2009. Only patients with no eti...
Niemann-Pick disease type C: a case series of Brazilian patients
Lorenzoni,Paulo José; Cardoso,Elaine; Crippa,Ana C. S.; Lourenço,Charles Marques; Souza,Fernanda Timm Seabra; Giugliani,RobertoThe aim of the study was to analyze a series of Brazilian patients with Niemann-Pick disease type C (NP-C). Method Correlations between clinical findings, laboratory data, molecular findings and treatment response are presented. Result The sample consisted of 5 patients aged 8 to 26 years. Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases. Filipin s...
Spinocerebellar ataxia type 3: subphenotypes in a cohort of brazilian patients
Moro,Adriana; Munhoz,Renato P.; Arruda,Walter O.; Raskin,Salmo; Moscovich,Mariana; Teive,Hélio A.G.Spinocerebellar ataxia type 3 (SCA3) involves cerebellar, pyramidal, extrapyramidal, motor neuron and oculomotor systems with strong phenotypic heterogeneity, that lead us to classify the disorder into different clinical subtypes according to the predominantly affected motor systems. Method The series comprises 167 SCA3 patients belonging to 68 pedigrees, studied from 1989-2013. These patients were categorized ...
Genetic evaluation for TOR1-A (DYT1) in Brazilian patients with dystonia
Camargo,Carlos Henrique F.; Camargos,Sarah Teixeira; Raskin,Salmo; Cardoso,Francisco Eduardo C.; Teive,Hélio Afonso G.Several genes have been mapped in families or in sporadic cases of dystonia. TOR1-A (DYT1) gene was linked to isolated dystonia. Objective To associate clinical information of patients with dystonia with the TOR1-A gene mutations. Method Eighty-eight patients with dystonia in cervical area (focal, segmental, multifocal and generalized) were recruited at Movement Disorders Clinic of Hospital de Clínicas of the F...
Estudo clínico e epidemiológico de fissuras orofaciais
Souza,Josiane; Raskin,SalmoOBJETIVO: Fissura labial com ou sem fissura palatina (FL ± P) ou fissura palatina (FP) são grupos de malformações chamados fissuras orofaciais (FO) e são a segunda causa de defeitos congênitos. O objetivo do estudo foi analisar características clínicas e epidemiológicas de pacientes brasileiros com FO, estudando casos tratados no centro de referência do estado do Paraná (PR). MÉTODOS: Foram analisados 2.356 grá...
Clinical relevance of "bulging eyes" for the differential diagnosis of spinocer...
Moro,Adriana; Munhoz,Renato Puppi; Arruda,Walter Oleschko; Raskin,Salmo; Teive,Hélio Afonso GhizoniObjectiveTo investigate the relevance of the clinical finding of bulging eyes (BE) in a large Brazilian cohort of spinocerebellar ataxias (SCA), to assess its importance in clinical differential diagnosis among SCA.MethodsThree hundred sixty-nine patients from 168 Brazilian families with SCA were assessed with neurological examination and molecular genetic testing. BE was characterized by the presence of eyelid...