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Targeted massively parallel sequencing for congenital generalized lipodystrophy

Costa-Riquetto,Aline D.; Santana,Lucas S.; Caetano,Lílian A.; Lerário,Antônio M.; Correia-Deur,Joya E. M.; Bertola,Débora R.; Kim,Chong A.; Nery,Márcia

ABSTRACT Objective: Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Subjects and methods: Nine unrelated individuals with a clinical diagnosis of CGL were recruited. We used a customized panel to capture genes related to genetic lipodystrophies. DNA libraries were generated...

Date: 2020   |   Origin: Oasisbr

Association between health literacy and glycemic control in elderly patients wi...

Souza,Jonas Gordilho; Farfel,José Marcelo; Jaluul,Omar; Queiroz,Márcia Silva; Nery,Márcia

ABSTRACT Objective: To investigate the association between inadequate functional health literacy, considering the Short Assessment of Health Literacy for Portuguese-speaking Adults, and glycemic control in elderly patients with type 2 diabetes, and to examine this association in low social support settings, according to Medical Outcomes Study . Methods: Cross-sectional study conducted at the diabetes referral c...

Date: 2020   |   Origin: Oasisbr

Fatores preditivos da marcha em pacientes diabéticos neuropático e não neuropát...

Saura,Vinícius; Santos,Alexandre Leme Godoy dos; Ortiz,Rafael Trevisan; Parisi,Maria Cândida; Fernandes,Túlio Diniz; Nery,Márcia

OBJETIVO: Analisar a amplitude de movimento do tornozelo e as forças de reação vertical do solo envolvidas na marcha de pacientes portadores de diabetes com e sem neuropatia periférica. CASUÍSTICA E MÉTODO: 36 indivíduos divididos em três grupos: Controle - GC: 10 indivíduos sem diabetes, Diabetes - GD: 10 indivíduos portadores de diabetes sem neuropatia periférica e Neuropatia - GDN: 16 indivíduos portadores d...

Date: 2010   |   Origin: Oasisbr

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