Rare Diseases Symptoms Automatic Extraction
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A random Abstract
Our Project
Our Team
Update in inclusion body myositis.
[inclusion body myositis]
The
purpose
of
this
study
is
to
review
recent
scientific
advances
relating
to
the
natural
history
,
cause
,
treatment
and
serum
and
imaging
biomarkers
of
inclusion
body
myositis
(
IBM
)
.
Several
theories
regarding
the
aetiopathogenesis
of
IBM
are
being
explored
and
new
therapeutic
approaches
are
being
investigated
.
New
diagnostic
criteria
have
been
proposed
,
reflecting
the
knowledge
that
the
diagnostic
pathological
findings
may
be
absent
in
patients
with
clinically
typical
IBM
.
The
role
of
MRI
in
IBM
is
expanding
and
knowledge
about
pathological
biomarkers
is
increasing
.
The
recent
description
of
autoantibodies
to
cytosolic
5
'
nucleotidase
1
A
in
patients
with
IBM
is
a
potentially
important
advance
that
may
aid
early
diagnosis
and
provides
new
evidence
regarding
the
role
of
autoimmunity
in
IBM
.
IBM
remains
an
enigmatic
and
often
misdiagnosed
disease
.
The
pathogenesis
of
the
disease
is
still
not
fully
understood
.
To
date
,
pharmacological
treatment
trials
have
failed
to
show
clear
efficacy
.
Future
research
should
continue
to
focus
on
improving
understanding
of
the
pathophysiological
mechanisms
of
the
disease
and
on
the
identification
of
reliable
and
sensitive
outcome
measures
for
clinical
trials
.
IBM
is
a
rare
disease
and
international
multicentre
collaboration
for
trials
is
important
to
translate
research
advances
into
improved
patient
outcomes
.
Diseases
Validation
Diseases presenting
"early diagnosis"
symptom
achondroplasia
acute rheumatic fever
adrenal incidentaloma
adrenomyeloneuropathy
alexander disease
allergic bronchopulmonary aspergillosis
aromatase deficiency
carcinoma of the gallbladder
cholangiocarcinoma
classical phenylketonuria
coats disease
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cowden syndrome
cushing syndrome
cutaneous mastocytosis
cystinuria
dentin dysplasia
dentinogenesis imperfecta
dracunculiasis
erdheim-chester disease
erythropoietic protoporphyria
esophageal carcinoma
esophageal squamous cell carcinoma
fabry disease
familial hypocalciuric hypercalcemia
familial mediterranean fever
gm1 gangliosidosis
hirschsprung disease
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
inclusion body myositis
kabuki syndrome
kallmann syndrome
kindler syndrome
krabbe disease
locked-in syndrome
monosomy 21
neuralgic amyotrophy
oculocutaneous albinism
oligodontia
omenn syndrome
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
primary hyperoxaluria type 1
proteus syndrome
pyomyositis
pyruvate dehydrogenase deficiency
scrub typhus
severe combined immunodeficiency
sneddon syndrome
systemic capillary leak syndrome
thoracic outlet syndrome
triple a syndrome
typhoid
von hippel-lindau disease
wiskott-aldrich syndrome
wolf-hirschhorn syndrome
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