scholarly journals Alkaptonuria Severity Score Index Revisited: Analysing the AKUSSI and Its Subcomponent Features

2018 ◽  
pp. 53-62 ◽  
Author(s):  
Bryony Langford ◽  
Megan Besford ◽  
Aimée Hall ◽  
Lucy Eddowes ◽  
Oliver Timmis ◽  
...  
Keyword(s):  
Severity Score ◽  
Severity Score Index ◽  
Score Index

Correlation Between Glucosylceramide Synthase Gene Polymorphism and Severity Score Index in Type 1 Gaucher Disease

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4644-4644
Author(s):  
Pilar Alfonso ◽  
Silvia Navarro ◽  
Pilar Medina ◽  
Pilar Irun ◽  
Pilar Giraldo ◽  
...  
Keyword(s):  
Severity Score ◽  
Gaucher Disease ◽  
Clinical Severity ◽  
Mobility Shift ◽  
Glucosylceramide Synthase ◽  
In Silico Studies ◽  
Mobility Shift Assay ◽  
Cellular Dysfunction ◽  
Severity Score Index ◽  
Score Index

Abstract Background: Gaucher disease (GD), caused by a deficiency of the glucocerebrosidase (GC) enzyme, is characterized by the accumulation of glucosylceramide (GlcCer) within lysosomes, resulting in cellular dysfunction and damage. GlcCer is catalyzed by the glucosylceramide synthase (GCS), also known as UDP-glucose ceramide glucosyltransferase, (UGCG), EC 2.4.1.80, first enzyme in glycosphingolipids biosynthesis. Mutations in the glucocerebrosidase (GBA) gene are required to cause GD, but other factors play an important role. Aims: GCS gene is a logical candidate to hypothesize that its variability could be involved in clinical severity. Patients and methods: We have analyzed GCS variants (g.(−295)C>T, g.(−222)ins10, g.148A>G, g.166A>T, g.25510C>G, g.29312A>G and g.34991A>G) in a group of 80 [N370S]+[L444P] heterozygous and 23 N370S homozygous patients. Results: were related with severity score index (SSI). g.(−295)C>T and g.166A>T SNPs were in complete linkage disequilibrium. In the N370S homozygous, carriers of g.(−222)ins10 have higher SSI than non carriers (6.6 vs 2.4, p<0.004). Patient carriers of the A-allele for SNP g.148A>G had higher SSI than the G-allele carriers (6.7 vs 1.5, p<0.001, for [N370S]+[L444P] heterozygous and 4.3 vs 1.7, p<0.001, for [N370S] homozygous). “In silico” studies and electrophoretic mobility shift assay (EMSA) indicate that 10bp insertion at the promoter region generates a new ETF binding site and the g.148a>g variant at intron 1 changes the affinity for the transcription factor AP-2. GlcCer were elevated in patient carriers of one mutated allele of these two variants. Conclusion: our results suggest that the genetic GCS variants could influence in the development and progression of GD severity.

An Innovative Severity Score Index for Clostridium difficile Infection

2011 ◽  
Vol 19 (5) ◽  
pp. 336-339 ◽  
Author(s):  
Doris H. Toro ◽  
Karla M. Amaral-Mojica ◽  
René Rocha-Rodriguez ◽  
José Gutierrez-Nuñez
Keyword(s):  
Clostridium Difficile ◽  
Clostridium Difficile Infection ◽  
Severity Score ◽  
Severity Score Index ◽  
Score Index

Inflammation in Fabry disease: Correlation with Mainz Severity Score Index (MSSI)

2019 ◽  
Vol 126 (2) ◽  
pp. S124
Author(s):  
Nilton S. Rosa Neto ◽  
Judith C.B. Bento ◽  
Valeria F. Caparbo ◽  
Rosa Maria R. Pereira
Keyword(s):  
Fabry Disease ◽  
Severity Score ◽  
Severity Score Index ◽  
Score Index

A Severity Score Index for Clostridium difficile Infection

2008 ◽  
Vol 16 (6) ◽  
pp. 376-378 ◽  
Author(s):  
Iris Velazquez-Gomez ◽  
Rene Rocha-Rodriguez ◽  
Doris H. Toro ◽  
Jose J. Gutierrez-Nuñez ◽  
Glenda Gonzalez ◽  
...  
Keyword(s):  
Clostridium Difficile ◽  
Clostridium Difficile Infection ◽  
Severity Score ◽  
Severity Score Index ◽  
Score Index

Validation study of a DS3 severity score index for adult patients with type 1 Gaucher disease (GD1)

2014 ◽  
Vol 111 (2) ◽  
pp. S112-S113
Author(s):  
Neal J. Weinreb ◽  
David Finegold ◽  
Eleanor Feingold ◽  
Barry Rosenbloom ◽  
Suma Shankar ◽  
...  
Keyword(s):  
Validation Study ◽  
Severity Score ◽  
Gaucher Disease ◽  
Adult Patients ◽  
Type 1 Gaucher Disease ◽  
Severity Score Index ◽  
Score Index
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