Journal of Investigative Medicine High Impact Case Reports,
Journal Year:
2024,
Volume and Issue:
12
Published: Jan. 1, 2024
Vanishing
twin
syndrome
(VTS)
refers
to
the
spontaneous
reduction
of
a
fetus
during
multiple
pregnancies,
resulting
in
its
invisibility
gestation.
is
commonly
identified
through
ultrasonographic
examination
early
pregnancy;
nonetheless,
genetic
causes
VTS
are
rarely
detected.
This
report
aimed
investigate
feasibility
testing
for
using
low-coverage
whole-genome
sequencing
and
short
tandem
repeat
(STR)
analysis.
We
39-year-old
woman
who
underwent
vitro
fertilization
conceived
dichorionic
diamniotic
twins.
The
heartbeat
1
ceased
at
11
weeks,
leading
diagnosis
VTS,
whereas
surviving
developed
normally
was
delivered
full
term.
Placental
revealed
rudimentary
gestational
sac
adjacent
placenta
that
correlated
with
vanished
fetus.
Chorionic
tissues
were
collected
from
live-born
infant
considered
have
originated
Genetic
chorionic
showed
both
fetuses
monozygotic
twins
normal
46,
XY
male
karyotype.
However,
triallelic
pattern
Penta
E
locus
on
STR
analysis,
which
unique
characteristic.
highlights
despite
unclear
relationship
between
Frontiers in Medicine,
Journal Year:
2023,
Volume and Issue:
10
Published: June 2, 2023
A
definitive,
authoritative
approach
to
evaluate
the
causes
of
unexpected,
and
ultimately
unexplained,
pediatric
deaths
remains
elusive,
relegating
final
conclusions
diagnoses
exclusion
in
vast
majority
cases.
Research
into
unexplained
has
focused
primarily
on
sudden
infant
(under
1
year
age)
led
identification
several
potential,
albeit
incompletely
understood,
contributory
factors:
nonspecific
pathology
findings,
associations
with
sleep
position
environment
that
may
not
be
uniformly
relevant,
elucidation
a
role
for
serotonin
is
practically
difficult
estimate
any
individual
case.
Any
assessment
progress
this
field
must
also
acknowledge
failure
current
approaches
substantially
decrease
mortality
rates
decades.
Furthermore,
potential
commonalities
across
broader
age
spectrum
have
been
widely
considered.
Recent
epilepsy-related
observations
genetic
identified
post-mortem
both
infants
children
who
died
suddenly
unexpectedly,
suggest
more
intense
specific
phenotyping
efforts
as
well
an
expanded
genomic
evaluation.
We
therefore
present
new
reframe
phenotype
range,
collapsing
many
distinctions
based
arbitrary
factors
(such
previously
guided
research
area,
discuss
its
implications
future
postmortem
investigation.
Reproductive Sciences,
Journal Year:
2023,
Volume and Issue:
31(3), P. 746 - 753
Published: Nov. 6, 2023
Abstract
The
aim
of
this
study
was
to
investigate
the
subsequent
early
pregnancy
outcomes
in
women
positive
for
non-criteria
antiphospholipid
antibodies
(NC-aPLs)
before
pregnancy.
A
total
273
patients
who
had
experienced
sporadic
or
recurrent
loss
and
been
screened
13
NC-aPLs
at
preconception
were
recruited
from
September
2019
February
2022.
Serum
levels
measured
by
ELISA
using
specific
kits.
primary
outcome
loss,
secondary
biochemical
pregnancy,
clinically
confirmed
ongoing
Among
these
subjects,
56
one
previous
217
(RPL).
(+)
(−)
groups
similar
rates
(EPL)
after
adjustment,
regardless
number
(aOR
=
1.054,
95%
CI
0.602–1.846).
Other
comparable
both
groups,
including
1.344,
0.427–4.236),
0.744,
0.236–2.344),
0.949,
0.542–1.660).
Based
on
sensitivity
analysis,
not
associated
with
adverse
RPL.
Furthermore,
difference
gestational
weeks
between
two
also
insignificant.
This
found
no
evidence
linking
NC-aPL
positivity
but
offers
a
reference
future
research
clarify
NC-aPLs’
potential
clinical
impact.
Frontiers in Oncology,
Journal Year:
2023,
Volume and Issue:
13
Published: June 12, 2023
Transcription
factors
(TFs)
play
a
critical
role
as
key
mediators
of
multitude
developmental
pathways,
with
highly
regulated
and
tightly
organized
networks
crucial
for
determining
both
the
timing
pattern
tissue
development.
TFs
can
act
master
regulators
primitive
definitive
hematopoiesis,
controlling
behavior
hematopoietic
stem
progenitor
cells
(HSPCs).
These
control
functional
regulation
HSPCs
including
self-renewal,
proliferation,
differentiation
dynamics,
which
are
essential
to
normal
hematopoiesis.
Defining
players
dynamics
these
transcriptional
is
understanding
hematopoiesis
how
genetic
aberrations
in
their
predispose
disease
bone
marrow
failure
(BMF)
hematological
malignancy
(HM).
Despite
multifaceted
complex
involvement
development,
advances
screening
along
elegant
multi-omics
model
system
studies
shedding
light
on
interact
network
achieve
cell
fates
etiology.
This
review
focuses
BMF
HM,
identifies
potential
novel
candidate
predisposing
TF
genes,
examines
putative
biological
mechanisms
leading
phenotypes.
A
better
genetics
molecular
biology
TFs,
well
identifying
genes
variants
will
accelerate
development
preventative
strategies,
improve
clinical
management
counseling,
help
define
targeted
treatments
diseases.
Deleted Journal,
Journal Year:
2024,
Volume and Issue:
1(3), P. 025 - 025
Published: Aug. 1, 2024
The
cause
of
death
in
many
stillbirths
remains
unexplained,
part
because
systematic
barriers
to
complete
workup.
We
review
the
importance
placental
pathology,
fetal
autopsy,
and
genetic
testing
stillbirth
Placental
pathology
is
useful
65%
stillbirths,
autopsy
42%.
Currently,
only
21%
United
States
undergo
autopsy.
Barriers
workup
include
cost
testing,
availability
perinatal
expertise,
health
care
professional
knowledge
about
workup,
skilled
counseling
support
bereaved
parents
making
decisions
propose
solutions
overcome
these
barriers,
including
policy
changes
expand
access
a
framework
for
high-quality
patient
decision
support.
Journal of Investigative Medicine High Impact Case Reports,
Journal Year:
2024,
Volume and Issue:
12
Published: Jan. 1, 2024
Vanishing
twin
syndrome
(VTS)
refers
to
the
spontaneous
reduction
of
a
fetus
during
multiple
pregnancies,
resulting
in
its
invisibility
gestation.
is
commonly
identified
through
ultrasonographic
examination
early
pregnancy;
nonetheless,
genetic
causes
VTS
are
rarely
detected.
This
report
aimed
investigate
feasibility
testing
for
using
low-coverage
whole-genome
sequencing
and
short
tandem
repeat
(STR)
analysis.
We
39-year-old
woman
who
underwent
vitro
fertilization
conceived
dichorionic
diamniotic
twins.
The
heartbeat
1
ceased
at
11
weeks,
leading
diagnosis
VTS,
whereas
surviving
developed
normally
was
delivered
full
term.
Placental
revealed
rudimentary
gestational
sac
adjacent
placenta
that
correlated
with
vanished
fetus.
Chorionic
tissues
were
collected
from
live-born
infant
considered
have
originated
Genetic
chorionic
showed
both
fetuses
monozygotic
twins
normal
46,
XY
male
karyotype.
However,
triallelic
pattern
Penta
E
locus
on
STR
analysis,
which
unique
characteristic.
highlights
despite
unclear
relationship
between
