Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
The relationship between familial Mediterranean fever gene (MEFV) mutations and clinical and radiologic parameters in multiple sclerosis patients.
[familial mediterranean fever]
Objective
:
Central
nervous
system
(
CNS
)
involvement
in
patients
with
familial
Mediterranean
fever
(
FMF
)
is
considerably
rare
.
Patients
with
FMF
may
exhibit
clinical
and
radiologic
symptoms
similar
to
multiple
sclerosis
(
MS
)
.
However
,
the
impact
of
the
Familial
Mediterranean
Fever
Gene
(
MEFV
)
mutations
on
the
clinical
course
of
MS
is
not
fully
understood
as
yet
.
Methods
:
In
our
study
,
we
investigated
the
presence
of
probable
MEFV
mutations
in
patients
diagnosed
with
definite
MS
and
the
association
of
these
mutations
with
the
clinical
course
,
radiologic
characteristics
and
disability
status
of
the
individuals
.
A
total
of
105
patients
diagnosed
with
definite
MS
according
to
the
McDonald
criteria
and
a
control
group
of
112
non-symptomatic
individuals
were
included
in
the
study
.
Results
:
Thirty
-
seven
patients
(
35
.
2
%
)
had
MEFV
gene
mutations
;
three
were
compound
heterozygotes
(
M
694
V
/
E
148
Q
;
M
694
V
/
V
726
A
;
P
369
S
/
E
148
Q
)
and
one
was
homozygous
for
P
369
S
.
No
statistically
significant
differences
were
found
among
patients
with
MS
and
healthy
individuals
with
respect
to
existing
mutations
.
In
addition
,
we
did
not
observe
a
statistically
significant
relationship
between
MEFV
mutations
and
the
gender
of
the
patients
,
oligoclonal
band
(
OCB
)
positivity
,
Expanded
Disability
Status
Scale
(
EDSS
)
,
disease
onset
age
,
clinical
presentation
,
affected
neurologic
systems
,
existence
of
spinal
lesions
,
response
to
immunomodulatory
treatment
,
time
to
reach
EDSS
scores
of
3
and
6
,
the
number
of
attacks
and
the
average
number
of
lesions
on
a
brain
MRI
.
Conclusion
:
Our
results
indicate
that
MEFV
gene
mutations
do
not
affect
the
neurologic
prognosis
in
patients
with
MS
.
However
,
additional
research
studies
involving
more
patients
with
MS
and
clinical
forms
are
warranted
to
confirm
our
results
.
Diseases
Validation
Diseases presenting
"definite ms"
symptom
familial mediterranean fever
You can validate or delete this automatically detected symptom
Validate the Symptom
Delete the Symptom