Psychotropes,
Год журнала:
2024,
Номер
Vol. 29(4), С. 105 - 121
Опубликована: Март 7, 2024
La
consommation
de
cocaïne
est
en
constante
progression
depuis
les
années
1990
avec
quelques
une
augmentation
importante
la
d’une
forme
fumable
ce
psychostimulant,
le
crack,
qui
s’avère
posséder
un
pouvoir
addictif
plus
important.
Il
n’existe
actuellement
aucun
traitement
pharmacologique
spécifique
approuvé
pour
traiter
l’addiction
à
cocaïne.
Nous
verrons
cependant
que
des
données
issues
recherche
clinique
et
préclinique
nous
laissent
entrevoir
pistes
pharmacothérapeutiques
basées
sur
deux
grands
types
d’approche.
Le
premier
type
regroupe
molécules
agissant
comme
activateurs
du
système
dopaminergique
pourrait
ouvrir
voie
stratégies
substitutives
deuxième
n’ayant
pas
d’action
directe
.
The Journal of Headache and Pain,
Год журнала:
2024,
Номер
25(1)
Опубликована: Янв. 26, 2024
Abstract
Background
Migraine
and
epilepsy
are
two
paroxysmal
chronic
neurological
disorders
affecting
a
high
number
of
individuals
being
responsible
for
individual
socioeconomic
burden.
The
link
between
these
has
been
interest
decades
innovations
concerning
diagnosing
treatment
enable
new
insights
into
their
relationship.
Findings
Although
appearing
to
be
distinct
at
first
glance,
both
diseases
exhibit
noteworthy
comorbidity,
shared
pathophysiological
pathways,
significant
overlaps
in
characteristics
like
clinical
manifestation
or
prophylactic
treatment.
This
review
aims
explore
the
intricate
relationship
conditions,
shedding
light
on
foundations,
genetic
interdependencies,
common
features,
clinically
overlapping
syndromes,
therapeutic
similarities.
There
several
mechanisms,
CSD,
likely
underlying
cause
migraine
aura,
neurotransmitters,
mainly
Glutamate
GABA,
which
represent
important
roles
triggering
attacks
seizures.
interrelations
can
observed
by
taking
closer
look
group
familial
hemiplegic
migraines,
caused
mutations
genes
CACNA1A
,
ATP1A2
SCN1A
.
is
further
underlined
over
entire
course
epileptic
While
variety
an
seizure
naturally
higher
than
that
attack,
distinction
indeed
difficult
some
cases,
e.g.
occipital
lobe
epilepsy.
Moreover,
factors
sleep
deprivation
alcohol
consumption
play
role
diseases.
In
period
after
symptoms
speech
difficulties,
tiredness,
yawning
occur.
actual
attack
disease
usually
lasts
limited
time,
research
indicates
suffering
from
and/or
highly
affected
daily
life,
especially
regarding
cognitive
social
aspects,
burden
even
worsened
using
antiseizure
medication.
medication
allows
us
reveal
connections,
as
certain
antiepileptics
proven
have
beneficial
effects
frequency
severity
used
preventive
drug
many
years.
Conclusion
show
similarities
mechanisms
presentation.
A
deeper
understanding
will
positively
advance
patient–oriented
work.
Journal of Feline Medicine and Surgery,
Год журнала:
2024,
Номер
26(5)
Опубликована: Май 1, 2024
Practical
relevance:
Chronic
pain
is
a
significant
welfare
concern
in
cats,
and
neuropathic
pain,
which
arises
from
aberrant
processing
of
sensory
signals
within
the
nervous
system,
subcategory
this
type
pain.
To
comprehend
condition
how
multimodal
pharmacotherapy
plays
central
role
alleviating
discomfort,
it
crucial
to
delve
into
anatomy
nociception
perception.
In
addition,
there
an
intricate
interplay
between
emotional
health
chronic
understanding
addressing
factors
that
contribute
perception,
vice
versa,
essential
for
comprehensive
care.
Clinical
approach:
Neuropathic
suspected
if
abnormal
sensation
area
distribution
together
with
positive
response
trial
treatment
drugs
effective
Ideally,
clinical
suspicion
would
be
supported
by
confirmation
lesion
at
neurolocalisation
using
diagnostic
modalities
such
as
MRI
neuroelectrophysiology.
Alternatively,
may
history
known
trauma
site.
A
variety
therapies,
including
analgesic,
anti-inflammatory
adjuvant
drugs,
neuromodulation
(eg,
TENS
or
acupuncture),
can
employed
address
different
facets
pathways.
Aim:
This
review
article,
aimed
primary
care/
general
practitioners,
focuses
on
identification
management
cats.
Three
case
vignettes
are
included
structured
algorithm
presented
guide
veterinarians
tailoring
interventions.
Evidence
base:
The
draws
current
literature,
where
available,
along
author's
extensive
experience
research.
Molecular Genetics & Genomic Medicine,
Год журнала:
2025,
Номер
13(2)
Опубликована: Янв. 29, 2025
ABSTRACT
Background
SYNGAP1
encodes
a
Ras/Rap
GTPase‐activating
protein
that
is
predominantly
expressed
in
the
brain
with
functional
roles
regulating
synaptic
plasticity,
spine
morphogenesis,
and
cognition
function.
Pathogenic
variants
have
been
associated
spectrum
of
neurodevelopmental
disorders
characterized
by
developmental
delays,
intellectual
disabilities,
epilepsy,
hypotonia,
features
autism
disorder.
The
aim
this
study
was
to
identify
novel
gene
variant
linked
evaluate
pathogenicity
detected
variant.
Methods
A
de
novo
intronic
identified
Whole
exome
sequencing
(WES)
confirmed
Sanger
sequencing.
Minigene
assays
were
conducted
assess
whether
influenced
normal
splicing
mRNA.
Results
(c.3582+2T>G)
indentified
clinical
suggestive
related
disorders.
analysis
demonstrated
noncanonical
splice
site
led
activation
cryptic
acceptor
site.
Consequently,
101
base
pairs
intron
16
aberrantly
retained
mRNA,
leading
frameshift.
This
frameshift
resulted
introduction
premature
stop
codon
(TGA)
coding
sequence
production
truncated
protein,
potentially
leding
loss
function
subsequent
disruption
its
biological
roles.
Conclusion
Our
findings
highlight
significance
pathogenic
at
16/exon
17
junction
‐related
disorders,
providing
insights
into
genetic
basis
diagnosis
these
disabilities.
Mature
neocortical
pyramidal
cells
functionally
express
two
sodium
channel
(Na
V
)
isoforms:
Na
1.2
and
1.6.
These
isoforms
are
differentially
localized
to
cell
compartments,
as
such
thought
contribute
different
aspects
of
neuronal
excitability.
But
determining
their
precise
roles
in
excitability
has
been
hampered
by
a
lack
tools
that
allow
for
selective,
acute
block
each
isoform
individually.
Here,
we
leveraged
aryl
sulfonamide-based
molecule
(ASC)
inhibitors
channels
exhibit
state-dependent
both
1.6,
along
with
knock-in
mice
changes
or
1.6
structure
prevents
ASC
binding.
This
allowed
acute,
potent,
reversible
individual
permitted
dissection
the
unique
contributions
Remarkably,
had
contrasting—and
some
situations,
opposing—effects
on
action
potential
output,
decreasing
increasing
output.
Thus,
have
regulating
excitability,
our
work
may
help
guide
development
therapeutics
designed
temper
hyperexcitability
through
selective
blockade.
Mature
neocortical
pyramidal
cells
functionally
express
two
sodium
channel
(Na
V
)
isoforms:
Na
1.2
and
1.6.
These
isoforms
are
differentially
localized
to
cell
compartments,
as
such
thought
contribute
different
aspects
of
neuronal
excitability.
But
determining
their
precise
roles
in
excitability
has
been
hampered
by
a
lack
tools
that
allow
for
selective,
acute
block
each
isoform
individually.
Here,
we
leveraged
aryl
sulfonamide-based
molecule
(ASC)
inhibitors
channels
exhibit
state-dependent
both
1.6,
along
with
knock-in
mice
changes
or
1.6
structure
prevents
ASC
binding.
This
allowed
acute,
potent,
reversible
individual
permitted
dissection
the
unique
contributions
Remarkably,
had
contrasting—and
some
situations,
opposing—effects
on
action
potential
output,
decreasing
increasing
output.
Thus,
have
regulating
excitability,
our
work
may
help
guide
development
therapeutics
designed
temper
hyperexcitability
through
selective
blockade.
