Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.
[junctional epidermolysis bullosa]
To
present
epidemiologic
and
clinical
data
from
the
Australasian
Epidermolysis
Bullosa
(
EB
)
Registry
,
the
first
orphan
disease
registry
in
Australia
.
Observational
study
(
cross-sectional
and
longitudinal
)
.
Australian
private
dermatology
practice
,
inpatient
ward
,
and
outpatient
clinic
.
Systematic
case
finding
of
patients
with
EB
simplex
,
junctional
EB
(
JEB
)
,
and
dystrophic
EB
and
data
collection
were
performed
throughout
Australia
and
New
Zealand
from
January
1
,
2006
,
through
December
31
,
2008
.
Patients
were
consecutively
enrolled
in
the
study
after
clinical
assessment
and
laboratory
diagnosis
.
Medical
records
were
retrospectively
examined
,
and
physicians
involved
in
EB
care
were
contacted
to
obtain
patient
history
.
A
Herlitz
JEB
case
series
was
prepared
from
registry
data
.
Demographics
and
prognosis
of
patients
with
Herlitz
JEB
.
A
total
of
259
patients
were
enrolled
in
the
study
:
139
with
EBS
,
91
with
dystrophic
EB
,
28
with
JEB
,
and
1
with
Kindler
syndrome
.
Most
enrollees
were
Australian
citizens
(
n
=
243
)
,
with
an
Australian
prevalence
rate
of
10
.
3
cases
per
million
.
The
age
range
in
the
registry
was
birth
to
99
years
,
with
a
mean
and
median
age
of
24
.
1
and
18
.
0
years
,
respectively
.
Ages
were
similar
in
patients
with
EBS
and
dominant
dystrophic
EB
but
were
markedly
lower
in
patients
with
JEB
.
Patients
with
Herlitz
JEB
(
n
=
10
)
had
the
highest
morbidity
and
mortality
rates
,
with
a
mean
age
at
death
of
6
.
8
months
.
Sepsis
,
failure
to
thrive
,
and
tracheolaryngeal
complications
were
the
leading
causes
of
death
.
The
Australasian
EB
registry
is
the
first
registry
in
Australia
and
New
Zealand
to
provide
original
data
on
age
,
sex
,
ethnicity
,
and
geographical
and
disease
subtype
distribution
.
The
Australasian
Herlitz
JEB
cohort
witnessed
a
high
infant
mortality
rate
and
poor
prognosis
overall
.
Diseases
Validation
Diseases presenting
"failure to thrive"
symptom
22q11.2 deletion syndrome
alexander disease
child syndrome
congenital diaphragmatic hernia
cystinuria
familial hypocalciuric hypercalcemia
hirschsprung disease
homocystinuria without methylmalonic aciduria
junctional epidermolysis bullosa
kabuki syndrome
kindler syndrome
krabbe disease
neonatal adrenoleukodystrophy
omenn syndrome
papillon-lefèvre syndrome
pyruvate dehydrogenase deficiency
triple a syndrome
wolf-hirschhorn syndrome
zellweger syndrome
This symptom has already been validated