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
.
