FM AUGUST 2018 ISSUE1 - digital edition

esearch snippets
Outcomes of diagnostic
exome sequencing in
patients with ASD
M
ari Rossi LPhil et al found
evidence supporting the
importance of diagnostic exome
sequencing for patients with autism
spectrum disorder or autistic features
traditional sequential or panel testing.
Diagnostic exome sequencing in a
cohort of 163 individuals with autism
found that among the positive finding in
the patients with autism spectrum
disorder or autistic features, 61.9% were
the result of de novo mutations. Patients
presenting with psychiatric conditions or
ataxia or paraplegia in addition to
autism spectrum disorder or autistic
features were significantly more likely to
receive positive results compared with
patients without these clinical features.
Results suggest diagnostic exome
sequencing would be an efficient
primary diagnostic method for patients
with autism spectrum disorders or
autistic features.
Pediatric Neurology Volume 70, May 2017,
Pages 34-43.e2
BAFF neutralization aggravates atherosclerosis
D
imitrios Tsiantoulas et al have
found that anti- B cell activating
factor (BAFF) antibody treatment
increased atherosclerosis in mice,
despite efficient depletion of mature
B-2 cells. Genomic data showed that
the BAFF receptor pathway is a key
driver of coronary heart disease.
Deletion or antibody-mediated
blockade of BAFFR ablates B-2 cells
and decreases experimental
atherosclerosis. Immunotherapy
against BAFF is approved for
treatment of autoimmune systemic
lupus erythematosus and can
therefore be expected to limit their
associated cardiovascular risk.
The researchers treated Apoe and
Ldlr mice with a well-characterized
blocking anti-BAFF antibody to study
the effect of BAFF neutralization in
atherosclerosis. To understand the
mechanism by which BAFF impacts
atherosclerosis, atherosclerosisprone
mice that lack the alternative
receptor for BAFF, transmembrane
activator and CAML interactor (TACI)
were studied.
However, direct effects of anti-BAFF
immunotherapy on atherosclerosis
remain unknown.
https://doi.org/10.1161/
CIRCULATIONAHA.117.032790 Circulation.
2018;CIRCULATIONAHA.117.032790, June 1, 2018
Residual inflammatory
risk on treatment with
PCSK9 inhibition
A
runa D. Pradhan et al has
evaluated residual inflammatory
risk among 9,738 patients participating
in the Studies of proprotein convertase
subtilisin-kexin type 9 (PCSK9)
Inhibition and the Reduction of
Vascular Events (SPIRE)-1 and -2
cardiovascular outcomes trials who
were receiving both statin therapy and
bococizumab. At 14 weeks, the mean
percent change in LDL-C among statin
treated patients who additionally
received bococizumab was -60.5% as
compared to 6.6% for high sensitivity
C-reactive protein (hsCRP). Incidence
rates for future cardiovascular events
for patients treated with both statin
therapy and bococizumab according to
on treatment levels of hsCRP 3 mg/L were 1.96, 2.50, and 3.59
events per 100 person-years,
respectively. Evidence of residual
inflammatory risk persisted among
patients treated with both statin
therapy and PCSK9 inhibition.
Circulation. 2018;CIRCULATION AHA.118.034645 May
1, 2018
Cytophilic antibodies
against key P. falciparum
A
sier Garcia-Ikhlaq Hussain Kana et al
reports the occurrence of naturally
acquired immunity (NAI) against
Plasmodium falciparum malaria in a tribal
population in a malaria endemic area of
India. The clinical trial assessed the quantity
and functionality of immunoglobulin G
(IgG) antibodies against intact merozoites
and recombinant proteins in a 13-month
longitudinal cohort study of 121 individuals,
3-60 years of age. Data analysis found
opsonic phagocytosis of merozoites activity
64 / FUTURE MEDICINE / AUGUST 2018