Rare Diseases Symptoms Automatic Extraction
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Real-time PCR as a prognostic tool for human congenital toxoplasmosis.
[congenital toxoplasmosis]
Real-time
PCR
(
qPCR
)
was
positive
in
72
/
150
(
48
%
)
blood
samples
of
newborns
with
congenital
toxoplasmosis
.
Among
infants
with
active
retinochoroiditis
,
68
%
had
positive
qPCR
results
,
while
positivity
was
29
%
(
P
=
0
.
009
)
in
the
absence
of
ocular
involvement
.
Positive
qPCR
was
associated
with
the
presence
of
retinochoroidal
lesions
,
with
an
odds
ratio
of
2
.
8
.
Diseases
Validation
Diseases presenting
"blood samples"
symptom
22q11.2 deletion syndrome
acute rheumatic fever
adrenomyeloneuropathy
alpha-thalassemia
aniridia
aromatase deficiency
benign recurrent intrahepatic cholestasis
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital toxoplasmosis
cushing syndrome
dystrophic epidermolysis bullosa
epidermolysis bullosa simplex
erdheim-chester disease
erythropoietic protoporphyria
esophageal adenocarcinoma
fabry disease
familial mediterranean fever
heparin-induced thrombocytopenia
hirschsprung disease
hodgkin lymphoma, classical
homocystinuria without methylmalonic aciduria
kallmann syndrome
oculocutaneous albinism
oligodontia
oral submucous fibrosis
papillon-lefèvre syndrome
phenylketonuria
primary effusion lymphoma
scrub typhus
sneddon syndrome
systemic capillary leak syndrome
triple a syndrome
typhoid
von hippel-lindau disease
waldenström macroglobulinemia
well-differentiated liposarcoma
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
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