Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1.
|
21378561 |
2011 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
CTD_human |
|
|
|
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
Some altered proteins seem to be involved in the chromatin assembly, such as codanin-1 in congenital dyserythropoietic anemia I.
|
23065504 |
2012 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
Three main types of CDA have been distinguished: CDA I and CDA III, whose loci have been already mapped, and CDA II (MIM 224100), the most frequent among CDAs, which is transmitted as an autosomal recessive trait and is known also as "HEMPAS" (hereditary erythroblast multinuclearity with positive acidified serum).
|
9345103 |
1997 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
CDA type I (CDAI [MIM 224120], gene symbol CDAN1) is characterized by erythroid pathological features such as internuclear chromatin bridges, spongy heterochromatin, and invagination of the nuclear membrane, carrying cytoplasmic organelles into the nucleus.
|
12434312 |
2002 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
BEFREE |
Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
|
18575862 |
2008 |
Congenital dyserythropoietic anemia
|
0.390 |
Biomarker
|
disease |
BEFREE |
Neither deficiency of CD44 nor absence of Colton antigens are general features of CDA because erythrocytes from patients with CDA I, CDA II, CDA III, and two other unclassified CDAs had normal expression of CD44 and normal Colton blood group phenotypes.
|
7507739 |
1994 |
Congenital dyserythropoietic anemia
|
0.390 |
GeneticVariation
|
disease |
LHGDN |
Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
|
18575862 |
2008 |
Congenital dyserythropoietic anemia, type III
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Congenital dyserythropoietic anemia, type II
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
Bipolar Disorder
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study identifies 30 loci associated with bipolar disorder.
|
31043756 |
2019 |
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The main outcomes selected for GRADE analysis were clinical remission at week 8 (Crohn's Disease Activity Index [CDAI] ≤150), clinical response at week 8 (CDAI reduction ≥ 100 or clinical remission), and serious adverse events.
|
31476018 |
2019 |
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
At the end of treatment.47% (7 of 15) of ISIS 2302-treated and 20% (1 of 5) of the placebo-treated patients were in remission (Crohn's Disease Activity Index [CDAI] < 150).
|
9609749 |
1998 |
Crohn Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Primary outcome was clinical remission (Crohn's disease activity index [CDAI]<150, Mayo Clinic Score <3); secondary outcomes were clinical response and mucosal healing.
|
29788260 |
2018 |
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The primary outcome for this analysis was 3-month steroid-free clinical remission at 1 year after HSCT (Crohn's Disease Activity Index [CDAI] <150).
|
28497755 |
2017 |
Crohn Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SNPs were genotyped (TaqMan) in two cohorts ( n= 90 and n= 444 (ACCENT I)) of active Crohn's disease patients (CDAI 220-450).
|
12360101 |
2002 |
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients who did not achieve deep remission, defined as clinical remission (Crohn's Disease Activity Index [CDAI] <150) and endoscopic remission (Crohn's Disease Endoscopic Index of Severity [CDEIS] ≤4, or ≤2 for patients with isolated ileitis), at week 12 received open-label intravenous therapy with 600 mg risankizumab every 4 weeks for 12 weeks; patients in deep remission at week 12 entered a 12-week washout phase.
|
30056030 |
2018 |
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The patients with moderate-to-severe active CD had a statistically significant higher value of CDAI and hsCRP concentrations compared to those being in the asymptomatic remission or at the mildly active stage of the disease.
|
31646581 |
2019 |
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Patients with active CD of the terminal ileum (CD activity index, CDAI, > 150; n = 14), patients with CD in remission (CDAI < 150 n = 10), first-degree relatives of the CD patients (n = 21) and healthy controls (n = 43) were orally intubated with a catheter allowing occlusion and perfusion of a segment of the proximal jejunum.
|
1426699 |
1992 |
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Forty-three adult small-bowel CD patients in clinical remission (Crohn's Disease Activity Index [CDAI] <150) were prospectively enrolled at 4 academic centers and followed clinically for 12 months.
|
28947363 |
2017 |
Crohn Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Key outcomes of interest were clinical response (CD activity index [CDAI] reduction of 100 points; CDAI-100) and remission (CDAI score under 150 points; CDAI < 150).
|
30727745 |
2019 |
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Efficacy variables included clinical response (Crohn's Disease Activity Index [CDAI] decrease from baseline ≥70/≥100 points [CR-70/CR-100]) and remission [CDAI<150], steroid discontinuation and fistula remission [absence of drainage].
|
29697818 |
2018 |
Crohn Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Analyses of efficacy using Crohn's Disease Activity Index [CDAI] endpoints [remission, clinical response [CR]-70, CR-100, patient-reported outcome [PRO] remission] or Harvey-Bradshaw Index [HBI] endpoints [remission/response] were conducted for induction and maintenance treatment periods.
|
30753371 |
2019 |
Crohn Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Primary outcome was clinical remission (Crohn's disease activity index [CDAI] < 150 or pediatric CDAI <10, Mayo Clinic Score <3); secondary outcomes were clinical response and mucosal healing.
|
29867171 |
2018 |
Crohn Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
193/720 (27%) received anti-tubercular therapy which significantly contributed to diagnostic delay (OR: 2.47; 95% CI: 1.76-3.47, P < 0.001) with 47% showing initial clinical response (Crohn's disease activity index- CDAI decrease >100).
|
29572889 |
2018 |