Journal of Pediatric Endocrinology and Metabolism,
Journal Year:
2025,
Volume and Issue:
unknown
Published: April 12, 2025
Vitamin
D
dependent
rickets
type
2A(VDD2A)
is
a
rare
autosomal
recessive
disorder
due
to
mutation
in
vitamin
receptor
(VDR)
gene
leading
hypocalcemia,
secondary
hyperparathyroidism
and
signs
of
rickets.
We
are
reporting
case
series
two
siblings
with
VDDR2A
who
were
managed
non-conventional
manner
(oral
calcium
oral
D)
tertiary
care
hospital
resource
limited
country.
Two
male
presented
at
the
age
10
years
(case
1)
11.5
2)
complaints
short
stature
walking
difficulty
since
4
1.5
year
respectively.
They
born
consanguineous
parents
history
maternal
cousins
having
same
complaints.
The
investigations
showed
frank
findings
on
imaging
biochemical
evidence
hypophosphatemia,
raised
levels
alkaline
phosphatase
parathyroid
hormone
normal
25-OH
1,25(OH)2D3
confirming
diagnosis
calcipenic
whole
exome
sequencing
(WES)
1
(younger
sibling)
that
he
was
carrying
novel
homozygous
variant
VDR
c.1354C>T,
p(Arg452Cys).
both
being
high
doses
supplements
activated
form
D.
can
present
or
without
alopecia.It
be
areas.
Nutrients,
Journal Year:
2022,
Volume and Issue:
14(20), P. 4286 - 4286
Published: Oct. 14, 2022
Epigenetics
is
a
series
of
alterations
regulating
gene
expression
without
disrupting
the
DNA
sequence
bases.
These
regulatory
mechanisms
can
result
in
embryogenesis,
cellular
differentiation,
X-chromosome
inactivation,
and
DNA-protein
interactions.
The
main
epigenetic
considered
to
play
major
role
both
health
disease
are
methylation,
histone
modifications,
profiling
non-coding
RNA.
When
fragile
balance
between
these
simultaneously
occurring
phenomena
disrupted,
risk
pathology
increases.
Thus,
factors
that
determine
proper
modeling
defined
those
with
disruptive
influence
sought.
Several
such
proven
negative
effects
have
already
been
described.
Diet
nutritional
substances
recently
one
most
interesting
targets
exploration
for
states,
including
autoimmunity.
preventive
nutrition
maintaining
sufficient
vitamin
D
concentration
maternal
blood
during
pregnancy,
as
well
early
years
life,
emphasized.
Opportunities
also
being
investigated
affecting
course
by
exploring
nutriepigenetics.
authors
aim
review
literature
presenting
important
nutrients
potentially
selected
autoimmune
disorders.
International Journal of Molecular Sciences,
Journal Year:
2023,
Volume and Issue:
24(17), P. 13434 - 13434
Published: Aug. 30, 2023
Atherosclerosis
is
one
of
the
most
fatal
diseases
in
world.
The
associated
thickening
arterial
wall
and
its
background
consequences
make
it
a
very
composite
disease
entity
with
many
mechanisms
that
lead
to
creation.
It
an
active
process,
scientists
from
various
branches
are
engaged
research,
including
molecular
biologists,
cardiologists,
immunologists.
This
review
summarizes
available
information
on
pathophysiological
implications
atherosclerosis,
focusing
endothelium
dysfunction,
inflammatory
factors,
aging,
uric
acid,
vitamin
D,
miRNA
expression
as
recent
evidence
interactions
cellular
elements.
Analyzing
new
discoveries
for
underlying
causes
this
condition
assists
general
research
improve
understanding
mechanism
pathophysiology
thus
prevention
cardiovascular
diseases.
Annals of Medicine and Surgery,
Journal Year:
2023,
Volume and Issue:
85(7), P. 3506 - 3511
Published: June 5, 2023
A
common
health
problem
known
as
polycystic
ovarian
syndrome
(PCOS),
is
characterized
by
irregular
periods,
an
excess
of
androgen
production,
and
ovaries.
It
one
the
most
prevalent
endocrine
disorders
in
women
reproductive
age,
affecting
4-20%
worldwide.
Numerous
studies
have
found
a
connection
between
onset
symptoms
PCOS
Vitamin
D
insufficiency.
insufficiency
causes
calcium
dysregulation
follicular
arrest
with
PCOS,
which
connected
to
menstrual
irregularities
fertility
issues.
Studies
metabolic
alterations
VDR
polymorphisms
such
iApa-I,
Taq-I,
Cdx2,
Fok-I.
Insulin
resistance
directly
related
D,
distinctive
characteristics
phenotype.
Thus,
it
suggested
that
therapy
may
help
patients
their
insulin
sensitivity.
In
addition
resistance,
cardiovascular
issues
are
second
disturbance
low
levels
experience.
Dyslipidemia
not
linked
increased
risk
disease
PCOS-affected
women.
dramatically
improves
glucose
metabolism
increasing
receptor
expression
reducing
pro-inflammatory
cytokines.
The
effect
on
dysfunctions
associated
be
mediated
overall
impact
resistance.
supplementation
improved
folliculogenesis,
decreased
blood
testosterone
patients,
all
had
significant
ability
procreate.
As
result,
might
cutting-edge
therapeutic
strategy
for
treating
concurrently.
Frontiers in Nutrition,
Journal Year:
2023,
Volume and Issue:
10
Published: May 18, 2023
The
prevalence
of
vitamin
D
deficiency
varied
among
populations
and
regions
worldwide.
In
addition,
the
association
between
health
outcomes
remained
controversial.
Our
study
aimed
to
investigate
its
with
mortality
risk
non-institutional
middle-aged
older
adults
in
United
States.The
population
included
11,119
adult
participants
aged
50
79
years
2007-2016
National
Health
Nutrition
Examination
Survey
(NHANES).
Vitamin
status
was
divided
as
≤
30
(severely
deficient),
30.1-50
(moderately
50.1-75
(insufficient),
75.1-100
(sufficient),
>
100
nmol/L
(very
sufficient).
NHANES
data
were
linked
Death
Index
ascertain
survival
cause
death.The
61.5
(survey-weighted)
47.9%
men.
Among
them,
4.6%
severely
deficient,
15.2%
moderately
33.6%
insufficient.
Individuals
higher
levels
tended
be
female,
older,
white
people,
non-smoker,
non-single,
more
educated,
family
income,
lower
body
mass
index.
During
a
median
follow-up
97.0
months,
total
1,585
died
(15.9
per
10,000
person-months).
crude
analysis
showed
that
deficiency,
but
not
insufficiency,
correlated
all-cause
risk.
similar
after
adjusting
for
potential
confounders,
showing
(HR:
1.38,
95%
CI
1.15-1.66),
insufficiency
1.03,
0.88-1.20),
we
an
independent
factor
death
from
pneumonia
3.82,
1.14-12.86)
cardiovascular
diseases,
cancer,
or
cerebrovascular
diseases.In
summary,
States,
nearly
20%
deficient.
increased
Metabolism Open,
Journal Year:
2025,
Volume and Issue:
25, P. 100348 - 100348
Published: Jan. 9, 2025
The
prevalence
of
cardiometabolic
diseases
is
rising,
and
this
fuelled
by
inflammation,
which
tends
to
be
worse
in
individuals
with
vitamin
D
(VD)
deficiency.
While
non-steroidal
anti-inflammatory
interventions
are
available,
they
present
coagulation
events.
Hence,
alternative
therapy
the
form
VD
supplements
gaining
research
interest.
This
study
reviewed
effect
supplementation
on
focusing
nuclear
factor
kappa-beta
(NF-κβ),
tumour
necrosis
factor-alpha
(TNF-α)
monocyte
chemoattractant
protein-1
(MCP-1)
across
different
disease.
Thirty-seven
studies,
16
rodent
models
21
clinical
studies
were
evaluated.
considered
evidence
from
understand
these
markers
inflammation
its
translatability
studies.
potential
benefits
notable
rodents,
effects
less
consistent
Notably,
showed
a
more
pronounced
impact
reducing
NF-κβ
TNF-α;
however,
trials
reported
conflicting
findings.
Furthermore,
was
important
MCP-1
models;
partially
demonstrated
trials.
Based
findings,
modulates
disease
inhibiting
activation
suppressing
production
TNF-α
MCP-1.
Although
has
some
possible
models,
findings
limited.
presented
calls
for
further
randomised
controlled
assess
patients
living
conditions
as
curb
risk
thereof.
Future
should
also
focus
exploring
dose-response,
optimal
dose,
duration
intervention
among
that
may
offer
inflammation.
Osteoporosis and Sarcopenia,
Journal Year:
2022,
Volume and Issue:
8(2), P. 35 - 57
Published: May 25, 2022
The
South
Asian
population
is
rapidly
ageing
and
sarcopenia
likely
to
become
a
huge
burden
in
this
region
if
proper
action
not
taken
time.
Several
guidelines
are
available,
from
the
western
world
East
Asia.
However,
these
fully
relevant
for
healthcare
ecosystem.
Asia
ethnically,
culturally,
phenotypically
unique.
Additionally,
seeing
an
increase
non-communicable
lifestyle
disease
obesity.
Both
conditions
can
lead
sarcopenia.
secondary
sarcopenic
obesity
either
dealt
with
detail
or
missing
other
guidelines.
Hence,
we
present
consensus
on
screening,
diagnosis
management
of
sarcopenia,
which
addresses
gaps
current
This
gives
equal
importance
muscle
function,
strength,
mass;
provides
cost-effective
clinical
easy
implement
solutions;
highlights
obesity;
lists
commonly
used
biomarkers;
reminds
us
that
osteo-arthro-muscular
triad
should
be
seen
as
single
entity
address
sarcopenia;
stresses
prevention
over
treatment;
prioritizes
non-pharmacological
pharmacological
management.
As
literature
scarce
region,
authors
call
more
research
guided
interventions.
Frontiers in Public Health,
Journal Year:
2022,
Volume and Issue:
10
Published: June 21, 2022
Background
Coronavirus
has
spread
to
almost
every
country
since
its
emergence
in
Wuhan,
China
and
countries
have
been
adopted
an
array
of
measures
control
the
rapid
epidemic.
Here,
we
aimed
assess
person's
knowledge,
attitude
practices
(KAP)
toward
COVID-19
epidemic
Southeast
South
Asia
applying
mixed
study
design
(cross-sectional
systematic
review).
Methods
In
cross-sectional
study,
743
respondents'
socio-demographic
KAP-related
information
was
collected
through
online
population-based
survey
from
Malaysian
population.
review,
database
PubMed,
Web
Science
Google
Scholar
search
engine
were
searched
related
published
articles
included.
Frequency
distribution,
Chi-square
association
test
binary
logistic
regression
fitted
using
data
whereas
random
effect
model
bias
performed
meta-analysis.
We
used
95%
confidence
interval
P
<0.05
as
statistical
significances.
Results
The
prevalence
good
positive
frequent
practice
52.6%,
51.8%
57.1%,
respectively,
obtained
by
analysis.
KAP
ranged
26.53%
(Thailand)
95.4%
(Nepal);
59.3%
(Turkey)
92.5%
(Pakistan);
50.2
97%
(Afghanistan),
18
studies
included
higher
[84%
vs.
79%,
heterogeneity
<0.001;
83%
80%,
85%
83%,
<0.001]
compared
Asia,
subgroup
Some
reported
mean
level
instead
proportion
where
score
varied
8.15–13.14;
2.33–33.0;
1.97–31.03,
respectively.
Having
more
knowledge
encouraged
likely
COVID-19.
Study
suggests
age,
gender,
education,
place
residence
occupation
most
significant
risk
factors
Conclusion
sufficiently
informs
how
other
enriches
their
behaviors
during
pandemic
which
may
help
health
professionals
policymakers
develop
targeted
interventions
effective
practices.
International Medical Case Reports Journal,
Journal Year:
2023,
Volume and Issue:
Volume 16, P. 227 - 232
Published: March 31, 2023
Introduction:
Vitamin
D
is
an
essential
steroid
hormone
that
consists
of
two
forms,
namely
vitamin
D2
(ergocalciferol)
and
D3
(cholecalciferol),
which
can
be
obtained
from
exposure
to
sunlight,
synthesis
in
the
skin,
food
dietary
supplements.
Prevalence
deficiency
several
countries
including
Indonesia
still
high,
while
role
very
important
accelerating
wound
healing
process,
increasing
immune
system,
anti-inflammatory,
anti-bacterial.
Purpose:
This
case
report
aims
find
out
wound-healing
process
oral
mucosa.
Case
Reports:
Two
men
went
Oral
Disease
Clinic
with
complaints
canker
sores
on
mucosa
for
more
than
a
month
accompanied
by
pain.
Intra-oral
condition
first
patient
showed
multiple
ulcers
yellowish
white
base
surrounded
erythematous
areas,
well-defined,
irregular
size
1.5
×
1
cm
0.5
right
left
buccal
mucosa,
intra-oral
second
patient,
single
ulcer
was
found
colour
area,
oval
measuring
3x1
cm,
clearly
demarcated
induration.
Results:
Laboratory
examination
both
patients
decreased
levels
values
28.7
9.8
ng/mL.
Conclusion:
supplementation
has
shown
effectiveness
processes
Keywords:
D,
role,
healing,
mouth
ulceration