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Mass spectrometry in clinical chemistry: the case of newborn screening.
[congenital adrenal hyperplasia]
Newborn
screening
(
NBS
)
program
is
a
complex
and
organized
system
consisting
of
family
and
personnel
education
,
biochemical
tests
,
confirmatory
biochemical
and
genetic
tests
,
diagnosis
,
therapy
,
and
patient
follow
up
.
The
program
identifies
treatable
metabolic
disorders
possibly
when
asymptomatic
by
using
dried
blood
spot
(
DBS
)
.
During
the
last
20
years
tandem
mass
spectrometry
(
TMS
)
has
become
the
leading
technology
in
NBS
programs
demonstrating
to
be
versatile
,
sensitive
and
specific
.
There
is
consistent
evidence
of
benefits
from
NBS
for
many
disorders
detected
by
TMS
as
well
as
for
congenital
hypothyroidism
,
cystic
fibrosis
,
congenital
adrenal
hyperplasia
by
immune-enzymatic
methods
.
Real
time
PCR
tests
have
more
recently
been
proposed
for
the
detection
of
some
severe
combined
immunodeficiences
(
SCID
)
along
with
the
use
of
TMS
for
ADA
and
PNP
SCID
;
a
first
evaluation
of
their
cost-benefit
ratio
is
still
ongoing
.
Avoiding
false
negative
results
by
using
specific
biomarkers
and
reducing
the
false
positive
rate
by
using
second
tier
tests
,
is
fundamental
for
a
successful
NBS
program
.
The
fully
integration
of
NBS
and
diagnostic
laboratories
with
clinical
service
is
crucial
to
have
the
best
effectiveness
in
a
comprehensive
NBS
system
.
Diseases
Validation
Diseases presenting
"first evaluation"
symptom
congenital adrenal hyperplasia
familial mediterranean fever
homocystinuria without methylmalonic aciduria
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