Frontiers in Genetics,
Год журнала:
2024,
Номер
15
Опубликована: Авг. 8, 2024
Aim
The
aim
of
this
study
is
to
investigate
if
Preimplantation
Genetic
Testing
(PGT)
can
effectively
identify
unreported
variants
according
American
College
Medical
Genetics
and
Genomics
(ACMG)to
prevent
citrullinemia
type
1
affection.
Design
This
involves
a
detailed
case
analysis
family
with
history
1,
focusing
on
the
use
PGT
for
monogenic
diseases
(PGT-M).
genetic
were
identified
using
ACMG
guidelines,
was
employed
inheritance
these
variants.
included
haplotype
Sanger
sequencing
confirm
results.
Results
previously
variations
in
ASS1
gene
causing
1.
successfully
prevented
transmission
variants,
resulting
birth
healthy
fetus.
However,
challenges
such
as
allele
dropout
(ADO)
recombination
encountered
during
analysis,
which
could
potentially
defeat
diagnosis.
demonstrated
that
combining
enhance
accuracy
PGT.
Conclusion
targeting
likely
pathogenic
gene,
rated
by
ACMG,
allows
infants
free
from
Additionally,
establishment
single
haplotypes
reduce
misdiagnosis
rate
caused
recombination.
Medicina,
Год журнала:
2024,
Номер
60(6), С. 880 - 880
Опубликована: Май 27, 2024
Background
and
Objectives:
Genitourinary
syndrome,
previously
defined
as
vulvovaginal
atrophy,
manifests
with
signs
symptoms
deriving
from
estrogen
diminution
in
the
female
genitourinary
tract.
Stable
ozonides
are
derivatives
of
artemisinin
found
to
be
stable
against
strong
basic
acidic
conditions.
Vitamin
E
is
an
important
antioxidant
diminishing
output
reactive
oxygen
species
oxidation
fats
emanation
free
radicals,
reducing
cellular
injury
aging.
The
primary
aim
present
study
was
assess
positive
effects
ozonide
plus
a
vitamin
acetate-based
compound
(Ozoile)
on
syndrome
symptom
relief
after
maximum
20
days
treatment.
Materials
Methods:
inclusion
criteria
for
patients’
enrollment
were
women
child-bearing
age
or
menopause
reporting
syndrome’s
related
symptoms,
such
pain,
burning,
bad
smell,
dyspareunia,
dryness,
itching,
bleeding,
nervousness.
exclusion
Sjogren’s
patients
administered
retinoic
acid,
agent
that
causes
mucosal
dryness.
Participants
completed
questionnaire
before
Results:
incidence
pain
decreased
16.7%
11.8%
(p-value
<
0.0001).
In
addition,
mean
intensity
2.10
0.87
Dryness
most
frequent
pre-treatment
85.5%
53.8%
0.0001)
(mean:
2.21
vs.
0.90;
p-value
Conclusions:
Ozoile
effective
gynecologic
syndrome.
However,
further
studies
needed
compare
its
effect
other
standards
care.
International Journal of Women s Health,
Год журнала:
2024,
Номер
Volume 16, С. 1067 - 1077
Опубликована: Июнь 1, 2024
The
objective
of
this
study
was
to
assess
reproductive
outcomes
D6
blastocysts
transferred
on
day
6
in
comparison
those
7
progesterone
exposure
frozen-thawed
embryo
transfer
cycles.
Frontiers in Genetics,
Год журнала:
2024,
Номер
15
Опубликована: Авг. 8, 2024
Aim
The
aim
of
this
study
is
to
investigate
if
Preimplantation
Genetic
Testing
(PGT)
can
effectively
identify
unreported
variants
according
American
College
Medical
Genetics
and
Genomics
(ACMG)to
prevent
citrullinemia
type
1
affection.
Design
This
involves
a
detailed
case
analysis
family
with
history
1,
focusing
on
the
use
PGT
for
monogenic
diseases
(PGT-M).
genetic
were
identified
using
ACMG
guidelines,
was
employed
inheritance
these
variants.
included
haplotype
Sanger
sequencing
confirm
results.
Results
previously
variations
in
ASS1
gene
causing
1.
successfully
prevented
transmission
variants,
resulting
birth
healthy
fetus.
However,
challenges
such
as
allele
dropout
(ADO)
recombination
encountered
during
analysis,
which
could
potentially
defeat
diagnosis.
demonstrated
that
combining
enhance
accuracy
PGT.
Conclusion
targeting
likely
pathogenic
gene,
rated
by
ACMG,
allows
infants
free
from
Additionally,
establishment
single
haplotypes
reduce
misdiagnosis
rate
caused
recombination.
