Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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Actionable diagnosis of neuroleptospirosis by next-generation sequencing.
[severe combined immunodeficiency]
A
14
-
year
-old
boy
with
severe
combined
immunodeficiency
presented
three
times
to
a
medical
facility
over
a
period
of
4
months
with
fever
and
headache
that
progressed
to
hydrocephalus
and
status
epilepticus
necessitating
a
medically
induced
coma
.
Diagnostic
workup
including
brain
biopsy
was
unrevealing
.
Unbiased
next
-generation
sequencing
of
the
cerebrospinal
fluid
identified
475
of
3
,
063
,
784
sequence
reads
(
0
.
016
%
)
corresponding
to
leptospira
infection
.
Clinical
assays
for
leptospirosis
were
negative
.
Targeted
antimicrobial
agents
were
administered
,
and
the
patient
was
discharged
home
32
days
later
with
a
status
close
to
his
premorbid
condition
.
Polymerase-chain-reaction
(
PCR
)
and
serologic
testing
at
the
Centers
for
Disease
Control
and
Prevention
(
CDC
)
subsequently
confirmed
evidence
of
Leptospira
santarosai
infection
.
Diseases
Validation
Diseases presenting
"fever"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
alexander disease
allergic bronchopulmonary aspergillosis
canavan disease
carcinoma of the gallbladder
child syndrome
congenital toxoplasmosis
cushing syndrome
cystinuria
dracunculiasis
erdheim-chester disease
esophageal adenocarcinoma
esophageal carcinoma
familial mediterranean fever
focal myositis
hodgkin lymphoma, classical
lamellar ichthyosis
legionellosis
locked-in syndrome
malignant atrophic papulosis
neonatal adrenoleukodystrophy
neuralgic amyotrophy
oculocutaneous albinism
papillon-lefèvre syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
waldenström macroglobulinemia
wolf-hirschhorn syndrome
This symptom has already been validated