Rare Diseases Symptoms Automatic Extraction
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A random Abstract
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An unfortunate case of Pendred syndrome.
[pendred syndrome]
To
report
a
patient
with
Pendred
syndrome
who
developed
life-threatening
hypokalaemia
as
an
unpredicted
consequence
of
implant-induced
imbalance
and
alcohol
dependency
,
leading
to
multiple
cardiac
arrests
.
Addenbrooke
's
Hospital
,
Cambridge
,
UK
.
C
ase
report
and
review
of
the
English
language
literature
concerning
Pendred
syndrome
and
cochlear
implantation
in
Pendred
syndrome
patients
.
Pendred
syndrome
is
an
autosomal
recessive
disorder
which
mainly
affects
the
inner
ear
,
thyroid
and
kidneys
.
It
accounts
for
10
per
cent
of
syndromic
hearing
loss
cases
.
The
majority
of
Pendred
syndrome
patients
are
referred
to
cochlear
implant
programmes
for
hearing
assessment
and
therapy
.
They
may
also
have
an
underlying
metabolic
abnormality
which
is
not
clinically
apparent
.
Providing
cochlear
implants
to
patients
with
Pendred
syndrome
demands
extensive
knowledge
of
this
condition
,
in
order
to
avoid
potential
morbidity
.
Diseases
Validation
Diseases presenting
"language literature"
symptom
familial hypocalciuric hypercalcemia
krabbe disease
liposarcoma
pendred syndrome
well-differentiated liposarcoma
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