scholarly journals The effect of SMN gene dosage on ALS risk and disease severity

2021 ◽  
Author(s):  
Matthieu Moisse ◽  
Ramona A. J. Zwamborn ◽  
Joke Vugt ◽  
Rick Spek ◽  
Wouter Rheenen ◽  
...  
Keyword(s):  
Disease Severity ◽  
Gene Dosage ◽  
Smn Gene

scholarly journals Heteroduplex Formation in SMN Gene Dosage Analysis

2001 ◽  
Vol 3 (4) ◽  
pp. 150-157 ◽  
Author(s):  
Shuji Ogino ◽  
Debra G.B. Leonard ◽  
Hanna Rennert ◽  
Sizhen Gao ◽  
Robert B. Wilson
Keyword(s):  
Gene Dosage ◽  
Smn Gene ◽  
Heteroduplex Formation

Vitamin D levels are not associated with non-alcoholic fatty liver disease severity in a Brazilian population

2020 ◽  
pp. 1-8
Author(s):  
Jeniffer Danielle M. Dutra ◽  
Quelson Coelho Lisboa ◽  
Silvia Marinho Ferolla ◽  
Carolina Martinelli M. L. Carvalho ◽  
Camila Costa M. Mendes ◽  
...  
Keyword(s):  
Vitamin D ◽  
Liver Disease ◽  
Fatty Liver ◽  
Disease Severity ◽  
Fatty Liver Disease ◽  
Hypovitaminosis D ◽  
Alcoholic Fatty Liver ◽  
Vitamin D Levels ◽  
The Mean ◽  
Alcoholic Fatty Liver Disease

Abstract. Some epidemiological evidence suggests an inverse correlation between non-alcoholic fatty liver disease (NAFLD) frequency and vitamin D levels. Likewise, a beneficial effect of vitamin D on diabetes mellitus (DM) and insulin resistance has been observed, but this is an unsolved issue. Thus, we aimed to investigate the prevalence of hypovitaminosis D in a NAFLD Brazilian population and its association with disease severity and presence of comorbidities. In a cross-sectional study, the clinical, biochemical and histological parameters of 139 NAFLD patients were evaluated according to two different cut-off points of serum 25-hydroxyvitamin D levels (20 ng/mL and 30 ng/mL). The mean age of the population was 56 ± 16 years, most patients were female (83%), 72% had hypertension, 88% dyslipidemia, 46% DM, 98% central obesity, and 82% metabolic syndrome. Serum vitamin D levels were < 30 ng/mL in 78% of the patients, and < 20 ng/mL in 35%. The mean vitamin D level was 24.3 ± 6.8 ng/mL. The comparison between the clinical, biochemical and histological characteristics of the patients according to the levels of vitamin D showed no significant difference. Most patients with NAFLD had hypovitaminosis D, but low vitamin D levels were not related to disease severity and the presence of comorbidities.

Characterizing driving behaviors in multiple sclerosis: Cognition versus disease severity

2008 ◽  
Author(s):  
Valerie D. Weisser ◽  
Kevin Manning ◽  
Allison Blasco ◽  
Nicole Sesitito ◽  
Jocelyn Ang ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Disease Severity ◽  
Driving Behaviors
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