Benchmarking of a multi-biomarker low-volume panel for Alzheimer’s Disease and related dementia research
medRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Июнь 14, 2024
Alzheimer's
Disease
(AD)
biomarker
measurement
is
key
to
aid
in
the
diagnosis
and
prognosis
of
disease.
In
research
setting,
participant
recruitment
retention
optimization
sample
use,
one
main
challenges
that
observational
studies
face.
Thus,
obtaining
accurate
established
measurements
for
stratification
maximizing
use
precious
samples
key.
Accurate
technologies
are
currently
available
biomarkers,
mainly
immunoassays
immunoprecipitation
liquid
chromatography-mass
spectrometry
(IP-MS),
some
them
already
being
used
clinical
settings.
Although
immunoassays-
IP-MS
based
platforms
provide
multiplexing
several
different
coding
proteins
there
not
a
current
platform
can
measure
all
stablished
emerging
biomarkers
run.
The
NUcleic
acid
Linked
Immuno-Sandwich
Assay
(NULISA
Язык: Английский
Benchmarking of a multi‐biomarker low‐volume panel for Alzheimer's disease and related dementia research
Alzheimer s & Dementia,
Год журнала:
2024,
Номер
unknown
Опубликована: Ноя. 22, 2024
Abstract
INTRODUCTION
In
the
research
setting,
obtaining
accurate
established
biomarker
measurements
and
maximizing
use
of
precious
samples
is
key.
Accurate
technologies
are
available
for
Alzheimer's
disease
(AD),
but
no
platform
can
measure
all
emerging
biomarkers
in
one
run.
The
NUcleic
acid
Linked
Immuno‐Sandwich
Assay
(NULISA)
a
technology
that
requires
15
µL
sample
to
more
than
100
analytes.
METHODS
We
compared
AD‐relevant
included
NULISA
against
validated
assays
cerebrospinal
fluid
(CSF)
plasma.
RESULTS
CSF
measures
amyloid
beta
42/40,
phosphorylated
tau
(p‐tau)217
highly
correlated
when
measured
by
immunoassay,
mass
spectrometry,
or
NULISA.
plasma,
p‐tau217
performance
similar
reported
with
other
predicting
amyloidosis.
Other
show
wide
range
correlation
values
depending
on
platform.
DISCUSSION
multiplexed
produces
reliable
results
useful
settings,
advantage
measuring
additional
using
minimal
volume.
Highlights
tested
novel
dementia
setting.
Cerebrospinal
Язык: Английский
Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders
Frontiers in Genetics,
Год журнала:
2023,
Номер
14
Опубликована: Июнь 21, 2023
Objective:
Wolfram
syndrome
(WFS)
is
an
autosomal
recessive
disorder
associated
with
juvenile-onset
diabetes
mellitus,
optic
atrophy,
insipidus,
and
sensorineural
hearing
loss.
We
sought
to
elucidate
the
relationship
between
genotypic
phenotypic
presentations
of
which
would
assist
clinicians
in
classifying
severity
prognosis
more
accurately.
Approach:
Patient
data
from
Washington
University
International
Registry
Clinical
Study
for
Syndrome
patient
case
reports
were
analyzed
select
patients
two
mutations
WFS1
gene.
Mutations
classified
as
being
either
nonsense/frameshift
variants
or
missense/in-frame
insertion/deletion
variants.
Missense/in-frame
further
transmembrane
non-transmembrane
based
on
whether
they
affected
amino
acid
residues
predicted
be
domains
WFS1.
Statistical
analysis
was
performed
using
Wilcoxon
rank-sum
tests
multiple
test
adjustment
applied
via
Bonferonni
correction.
Results:
A
greater
number
genotype
correlated
earlier
onset
a
severe
presentation
syndrome.
Secondly,
non-sense
frameshift
had
than
missense
variants,
evidenced
by
mellitus
atrophy
emerging
significantly
compared
zero
one
In
addition,
in-frame
demonstrated
statistically
significant
dose-effect
age
among
Summary/Conclusion:
The
results
contribute
our
current
understanding
genotype-phenotype
syndrome,
suggesting
that
alterations
coding
sequences
result
changes
Wolfram.
impact
these
findings
significant,
will
aid
predicting
accurate
prognoses
pave
way
personalized
treatments
Язык: Английский
Clinical Trials for Wolfram Syndrome Neurodegeneration: Novel Design, Endpoints, and Analysis Models
medRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2024,
Номер
unknown
Опубликована: Сен. 11, 2024
Wolfram
syndrome,
an
ultra-rare
condition,
currently
lacks
effective
treatment
options.
The
rarity
of
this
disease
presents
significant
challenges
in
conducting
clinical
trials,
particularly
achieving
sufficient
statistical
power
(e.g.,
80%).
objective
study
is
to
propose
a
novel
trial
design
based
on
real-world
data
reduce
the
sample
size
required
for
trials
syndrome.
Язык: Английский
Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related Disorders
medRxiv (Cold Spring Harbor Laboratory),
Год журнала:
2023,
Номер
unknown
Опубликована: Фев. 16, 2023
Wolfram
syndrome
(WFS)
is
an
autosomal
recessive
disorder
associated
with
juvenile-onset
diabetes
mellitus,
optic
atrophy,
insipidus,
and
sensorineural
hearing
loss.
We
sought
to
elucidate
the
relationship
between
genotypic
phenotypic
presentations
of
which
would
assist
clinicians
in
classifying
severity
prognosis
more
accurately.
Язык: Английский
Utility of Serum Neurofilament Light Protein as a Biomarker in Traumatic Brain Injury
Shalini Pasupuleti Satish Kumar
International Journal of Science and Research (IJSR),
Год журнала:
2023,
Номер
12(2), С. 468 - 473
Опубликована: Фев. 5, 2023
Objective:
Traumatic
Brain
Injury
(TBI)
is
the
most
predominant
cause
of
morbidity
globally.
The
load
TBI
in
all
age
groups
leads
to
a
raise
cost
treatment.
addition
blood
biomarkers
can
provide
more
reliable
information
about
neuronal
injury
and
aid
clinical
evaluation
without
sacrificing
sensitivity.
They
may
also
serve
as
-effective
tools
with
good
specificity
TBI.
Methodology:
34
severe
patients
between
2019
2020,
admitted
Nizam's
Institute
Medical
Sciences,
Hyderabad,
India
were
enrolled.30
orthotrauma
(OT)
30
Healthy
controls
included
study.
All
participants
assessed
for
serum
levels
Neurofilament
Light
protein
(NFL)
S100B.
Results:
Serum
NFL
S100B
concentrations
on
day
0
ranged
from
150.8
414.6
pg/ml
705.26
3747.37
pg/L.
was
markedly
higher
than
OT
patients.
values
at
d0
after
NF
-L
(p=0.012)
(p=0.202)
over
hospital
stay
significantly
non
survivors
vs.
survivors.
Conclusion:
would
help
better
prognostication
Measurement
be
useful
assess
axonal
degeneration
by
knowing
severity
especially
long
term
impairment,
Whereas,
S100b
diagnose
disease.
Язык: Английский