Expert Review of Molecular Diagnostics,
Journal Year:
2024,
Volume and Issue:
24(12), P. 1139 - 1150
Published: Dec. 1, 2024
Introduction
The
liquid
biopsy
is
a
breakthrough
in
the
field
of
medical
diagnostics.
It
serves
as
sentinel
that
can
quietly
detect
even
subtlest
aberrations
indicate
presence
disease.
They
make
it
possible
to
uncover
relevant
genetic
factors
tumors
with
minimal
no
risk
cancer
patients.
Liquid
biopsies
allow
detailed
diagnosis,
dynamic
treatment
monitoring,
and
accurate
prognosis.
are
also
invaluable
diagnosing
other
diseases
such
infectious
aberrant
gene
mutations.
Animals,
Journal Year:
2024,
Volume and Issue:
14(17), P. 2601 - 2601
Published: Sept. 6, 2024
The
continued
evolution
of
H3
subtype
avian
influenza
virus
(AIV)—which
crosses
the
interspecific
barrier
to
infect
humans—and
potential
risk
genetic
recombination
with
other
subtypes
pose
serious
threats
poultry
industry
and
human
health.
Therefore,
rapid
accurate
detection
is
highly
important
for
preventing
its
spread.
In
this
study,
a
method
based
on
real-time
reverse
transcription
recombinase-aided
isothermal
amplification
(RT–RAA)
was
successfully
developed
AIV.
Specific
primers
probes
were
designed
target
hemagglutinin
(HA)
gene
AIV,
ensuring
specific
AIV
without
cross-reactivity
respiratory
viruses.
results
showed
that
limit
RT–RAA
fluorescence
reading
224
copies/response
within
95%
confidence
interval,
while
visualization
1527
same
interval.
addition,
68
clinical
samples
examined
compared
those
quantitative
PCR
(RT–qPCR).
RT–qPCR
completely
consistent,
kappa
value
reached
1,
indicating
excellent
correlation.
For
visual
detection,
sensitivity
91.43%,
specificity
100%,
0.91,
which
also
indicated
good
amplified
products
can
be
visualized
portable
blue
light
instrument,
enables
even
in
resource-constrained
environments.
RT-RAA
established
study
meet
requirements
basic
laboratories
provide
valuable
reference
early
diagnosis
Research Square (Research Square),
Journal Year:
2024,
Volume and Issue:
unknown
Published: Aug. 11, 2024
Abstract
Background
Epilepsy
is
a
prevalent
neurological
disorder,
affecting
approximately
1%
of
the
global
population.
The
extensive
clinical
and
genetic
variability
in
epilepsy
makes
accurate
diagnosis
significant
challenge.
Case
presentation
In
this
study,
we
describe
girl
with
developmental
epileptic
encephalopathy
(DEE).
Using
whole
genome
sequencing
(WGS),
identified
several
candidate
variants
HNRNPU,
NIPBL,
KANSL1
genes
partial
overlap
patient
presentation.
Subsequent
analysis
revealed
that
only
variant
HNRNPU
gene
arose
de
novo
while
others
were
inherited
from
an
unaffected
parents.
However,
previously
reported
pathogenic
loss
function
gene,
healthy
mother,
complicated
comprehensive
family
counseling.
A
thorough
investigation
using
RNA
showed
located
duplicated
locus,
which
not
functional,
explaining
assumed
incomplete
penetrance.
Conclusions
This
case
illustrates
importance
integrating
WGS
additional
analyses
to
accurately
diagnose
understand
molecular
basis
penetrance
gene.
LabMed,
Journal Year:
2024,
Volume and Issue:
1(1), P. 3 - 4
Published: Sept. 13, 2024
LabMed
is
a
new
open
access
electronic
journal
supported
by
one
of
the
world’s
leading
publishers
MDPI,
Multidisciplinary
Digital
Publishing
Institute,
and
an
international
editorial
board
with
diverse
expertise
in
laboratory
medicine
[...]
