Emerging Therapeutic Approaches and Genetic Insights in Stargardt Disease: A Comprehensive Review
International Journal of Molecular Sciences,
Journal Year:
2024,
Volume and Issue:
25(16), P. 8859 - 8859
Published: Aug. 14, 2024
Stargardt
disease,
one
of
the
most
common
forms
inherited
retinal
diseases,
affects
individuals
worldwide.
The
primary
cause
is
mutations
in
ABCA4
gene,
leading
to
accumulation
toxic
byproducts
pigment
epithelium
(RPE)
and
subsequent
photoreceptor
cell
degeneration.
Over
past
few
years,
research
on
disease
has
advanced
significantly,
focusing
clinical
molecular
genetics.
Recent
studies
have
explored
various
innovative
therapeutic
approaches,
including
gene
therapy,
stem
pharmacological
interventions.
Gene
therapy
shown
promise,
particularly
with
adeno-associated
viral
(AAV)
vectors
capable
delivering
cells.
However,
challenges
remain
due
gene’s
large
size.
Stem
aims
replace
degenerated
RPE
cells,
several
trials
demonstrating
safety
preliminary
efficacy.
Pharmacological
approaches
focus
reducing
byproduct
modulating
visual
cycle.
Precision
medicine,
targeting
specific
genetic
pathways,
becoming
increasingly
important.
Novel
techniques
such
as
clustered
regularly
interspaced
palindromic
repeats
(CRISPR)/Cas9
offer
potential
for
directly
correcting
defects.
This
review
synthesize
recent
advancements
understanding
treating
disease.
By
highlighting
breakthroughs
therapies,
treatments,
novel
strategies,
it
provides
a
comprehensive
overview
emerging
options.
Language: Английский
Thyroid Eye Disease and Glaucoma: A Cross-Sectional Study Comparing Clinical Characteristics and Disease Severity
Medicina,
Journal Year:
2024,
Volume and Issue:
60(9), P. 1430 - 1430
Published: Sept. 1, 2024
Background
and
Objectives:
This
study
investigates
the
relationship
between
thyroid
eye
disease
(TED)
open-angle
glaucoma
(OAG),
focusing
on
severity
clinical
features.
Materials
Methods:
Conducted
at
Timis
County
Emergency
Clinical
Hospital,
research
included
106
patients,
with
53
having
both
conditions
only
OAG.
Key
metrics
analyzed
intraocular
pressure
(IOP)
using
a
Goldmann
applanation
tonometer,
retinal
nerve
fiber
layer
(RNFL)
thickness,
optic
head
(ONH)
characteristics
evaluated
optical
coherence
tomography
(OCT).
Results:
Results
indicated
that
patients
TED
OAG
experienced
6.09%
reduction
in
RNFL
thickness
showed
more
rapid
progression,
48.35%
active
TED.
The
mean
IOP
was
27.5
±
4.9
mmHg,
which
similar
to
those
Demographic
factors,
including
age
gender,
influenced
course
severity.
Conclusions:
These
findings
underscore
importance
of
specialized
monitoring
treatment
strategies
for
coexisting
prevent
vision
loss.
Language: Английский
Human Ocular Toxoplasmosis in Romania: History, Epidemiology, and Public Health: A Narrative Review
Microorganisms,
Journal Year:
2024,
Volume and Issue:
12(8), P. 1541 - 1541
Published: July 27, 2024
Toxoplasmosis,
caused
by
the
protozoan
parasite
Language: Английский
Cardiovascular Risk Factors in Socioeconomically Disadvantaged Populations in a Suburb of the Largest City in Western Romania
Andreea Dumitrescu,
No information about this author
Gabriela Mut Vitcu,
No information about this author
Svetlana Stoica
No information about this author
et al.
Biomedicines,
Journal Year:
2024,
Volume and Issue:
12(9), P. 1989 - 1989
Published: Sept. 2, 2024
:
Cardiovascular
disease
(CVD)
remains
a
major
public
health
issue
worldwide,
disproportionately
affecting
socioeconomically
disadvantaged
populations
due
to
the
social
determinants
of
(SDOHs).
In
Western
Romania,
these
are
particularly
vulnerable
CVD.
This
study
aims
investigate
prevalence
and
impact
cardiovascular
risk
factors
(CVRFs)
among
individuals
in
Romania
identify
primary
CVRFs
contributing
high
incidence
CVD
within
this
population.
Language: Английский
Clinical and Morphological Aspects of Aggressive Salivary Gland Mixed Tumors: A Narrative Review
Diagnostics,
Journal Year:
2024,
Volume and Issue:
14(17), P. 1942 - 1942
Published: Sept. 3, 2024
Salivary
gland
tumors
are
a
rare
and
heterogeneous
group
of
neoplasms
the
head
neck
region.
The
mixed
category
these
include
following
entities:
pleomorphic
adenoma
(PA),
carcinoma
ex
(CEPA),
salivary
carcinosarcoma
(CS),
metastasizing
PA
(MPA).
most
common
benign
tumor
glands
is
PA.
Metastasis
malignant
degeneration
have
been
reported
in
cases
origin.
Judging
by
their
behavior,
MPA,
CEPA,
CS
can
be
considered
aggressive
tumors.
Invasive
CEPA
has
identified
parotid
more
frequently.
MPA
current
literature
rare.
In
this
paper,
we
present,
narratively,
clinico-morphological
features
Language: Английский
Vitamin D Deficiency as a Risk Factor for Diabetic Retinopathy: A Systematic Review and Meta-Analysis
Biomedicines,
Journal Year:
2024,
Volume and Issue:
13(1), P. 68 - 68
Published: Dec. 30, 2024
Diabetic
retinopathy
(DR),
a
significant
microvascular
complication
of
diabetes
mellitus
(DM),
remains
major
cause
vision
loss
worldwide.
Vitamin
D,
recognized
for
its
role
in
bone
health,
has
also
been
implicated
various
non-skeletal
conditions,
including
DR.
This
systematic
review
analyzed
data
from
20
studies
involving
22,408
participants
to
explore
the
relationship
between
vitamin
D
levels
and
Studies
were
included
based
on
strict
eligibility
criteria,
ensuring
they
could
distinctly
classify
into
DR
non-DR
groups
provide
quantitative
measurements
levels.
Of
these,
nine
meta-analysis.
The
pooled
analysis
revealed
association
lower
increased
odds
DR,
with
combined
ratio
(OR)
1.15
(95%
CI:
1.10–1.20)
under
fixed-effects
model
1.17
1.08–1.27)
random-effects
model.
Mean
serum
individuals
(18.11
±
5.35
ng/mL)
compared
those
without
(19.71
7.44
ng/mL),
progressive
decline
observed
across
severity
stages.
Subgroup
analyses
showed
significantly
proliferative
non-proliferative
Heterogeneity
(I2
=
89%)
was
noted,
most
probably
due
geographic
differences,
varying
methodologies
measurement,
classification
approaches.
Secondary
indicated
that
deficiency
prevalence
ranged
27%
95%
populations,
highlighting
potential
disease
progression.
highlights
need
longitudinal
better
understand
causal
relationship.
findings
call
attention
critical
gap
literature
regarding
therapeutic
supplementation
preventing
managing
Addressing
as
modifiable
risk
factor
DM
care
may
offer
new
avenues
reducing
burden
Language: Английский