Rare Diseases Symptoms Automatic Extraction
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Peer group normalization and urine to blood context in steroid metabolomics: the case of CAH and obesity.
[congenital adrenal hyperplasia]
Traditional
interpretation
of
GC
-
MS
output
involved
the
semi-quantitative
estimation
of
outstanding
low
or
high
specific
metabolites
and
the
ratio
between
metabolites
.
Here
,
we
utilize
a
systems
biology
approach
to
steroid
metabolomics
of
a
complex
steroid-related
disorder
,
using
an
all-inclusive
analysis
of
the
steroidal
pathway
in
the
form
of
a
subject
steroidal
fingerprint
and
disease
signature
,
providing
novel
methods
of
normalization
and
visualization
.
The
study
compares
324
normal
children
to
pure
enzymatic
deficiency
in
27
untreated
21
-
hydroxylase
CAH
patients
and
to
complex
disease
in
70
children
with
obesity
.
Steroid
profiles
were
created
by
quantitative
data
generated
by
GC
-
MS
analyses
.
A
novel
peer
-group
normalization
method
defined
each
individual
subject
's
control
group
in
a
multi-dimensional
space
of
metadata
parameters
.
Classical
steroid
pathway
visualization
was
enhanced
by
adding
urinary
end-product
sub-nodes
and
by
color
coding
of
semi-quantitative
metabolic
concentrations
and
enzymatic
activities
.
Unbiased
automated
data
analysis
confirmed
the
common
knowledge
for
CAH
-
the
inferred
17
-
hydroxyprogesterone
was
up-regulated
and
the
inferred
21
-
hydroxylase
enzyme
activity
was
down-regulated
.
In
childhood
obesity
,
we
observe
a
general
decrease
of
both
glucocorticoid
and
mineralocorticoid
metabolites
,
increased
androgens
,
up-regulation
of
17
,
20
-
lyase
,
17
-
OHase
and
11
β-
HSD
1
activity
and
down-regulation
of
21
-
OHase
enzymatic
activity
.
Our
study
proved
novel
normalization
and
visualization
techniques
are
to
be
useful
in
identifying
subject
fingerprint
and
disease
signature
in
enzymatic
deficiency
and
insufficiency
,
while
demonstrating
hypothesis
generation
in
a
complex
disease
such
as
childhood
obesity
.
Diseases
Validation
Diseases presenting
"obesity"
symptom
acute rheumatic fever
adrenal incidentaloma
aniridia
aromatase deficiency
carcinoma of the gallbladder
cohen syndrome
congenital adrenal hyperplasia
cushing syndrome
cystinuria
esophageal adenocarcinoma
esophageal carcinoma
esophageal squamous cell carcinoma
familial hypocalciuric hypercalcemia
familial mediterranean fever
heparin-induced thrombocytopenia
kabuki syndrome
monosomy 21
phenylketonuria
primary hyperoxaluria type 1
sneddon syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
This symptom has already been validated