Springer Nature

Related article: A patient with germ-line gain-of-function PDGFRB p.N666H mutation and marked clinical response to imatinib

https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2017104a.html

Hypoxia-ischemia (HI) is a major cause of neurological damage in preterm neonates. Physical exercise in mothers serves as a non-pharmacological intervention to counteract obesity, hypertension, and other such risk factors for prematurity. For this reason, women are widely encouraged to swim throughout their pregnancy. In this episode, Eduardo Farias Sanches discusses how he and his team wanted to test the neuroprotective effects of pregnancy swimming against the damage caused by HI and to understand possible mechanisms behind these effects.

Article: http://www.nature.com/pr/journal/v82/n3/full/pr2017110a.html

Simone Schüller is a pediatrician at the Boston's Children Hospital. She was awarded the Max Kade fellowship to conduct research into neonatal innate immune pathways to aid the development of vaccines for the very young. Previously, Simone was at the Medical University of Vienna, where she recently completed her residency and clinical training. In this episode, we hear how she has strengthened her laboratory experience over the years in a number of countries and has used some of these in vitro skills in a recent Pediatric Research paper about the effect of Pentoxyfylline on the preterm infant immune system in a model of sepsis.

Article - http://www.nature.com/pr/journal/v82/n2/full/pr201741a.html

Electronic cigarettes are used almost as much as conventional cigarettes in some parts of the world and are particularly popular among young people. They are often advertised as a means of stopping smoking but there is a lack of consistent evidence for this claim. In this episode, we hear from Dr. Man Pin Wang from the School of nursing, University of Hong Kong. He and his team performed a longitudinal study of adolescents that called the Youth Quitline in Hong Kong, in order to investigate the links between e-cigs and quitting smoking in this population.

Article - http://www.nature.com/pr/journal/v82/n1/full/pr201780a.html

Molecular autopsy in maternal-fetal medicine -

https://www.nature.com/gim/journal/vaop/ncurrent/full/gim2017111a.html

Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar

https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201714a.html

Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201737a.html

Sources of discordance among germ-line variant classifications in ClinVar

https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201760a.html

A new era in the interpretation of human genomic variation

https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201790a.html

One method of treating Post-traumatic stress disorder (PTSD) involves extinction therapy, but researchers have found that the timing of such therapy is extremely important, and that it often doesn't work if the therapy is conducted too soon after the initial trauma. Stress itself may be harming the efficacy of the treatment. A team of researchers at Texas A&M University conducted research to determine whether there was a way to dampen stress and make extinction therapy more effective by using pharmaceuticals. The results were published in a recent issue of the journal Neuropsychopharmacology. Listen to the latest podcast to hear about this study from researchers Stephen Maren and Tom Giustino!

Article: β-Adrenoceptor Blockade in the Basolateral Amygdala, But Not the Medial Prefrontal Cortex, Rescues the Immediate Extinction Deficit - https://www.nature.com/npp/journal/vaop/ncurrent/full/npp201789a.html

This is the first in a series of bi-monthly episodes centered around an Early Career Investigator who publishes in the journal. This month, we meet Dr. Adam Frymoyer, a clinical assistant professor in the department of pediatrics at Stanford University. He describes himself as a 39 year old physician-scientist, passionate about promoting the safe and efficacious use of therapeutic drugs in neonates and children. He has established a cross-disciplinary research program that focuses on the application of clinical pharmacokinetics and pharmacodynamics to guide therapeutic decision making in children.

Article link: http://www.nature.com/pr/journal/v81/n6/full/pr201760a.html

Neonatal sepsis is a common cause of mortality in newborns. Often, it is the inflammation in response to the pathogen, rather than the pathogen itself, that causes the most harm to the sick patient. Neonatal sepsis is currently treated with corticosteroids but they come with a significant number of adverse effects. One promising new anti-inflammatory drug is a phosphodiesterase inhibitor called pentoxyfylline. Esther Speer, a pediatrician specialized in neonatology at Stony Brook Children's Hospital, carried out an in vitro study using cord blood from healthy-term neonates, providing further evidence that pentoxyfylline represents a promising alternative to corticosteroids.

Article link: http://www.nature.com/pr/journal/v81/n5/full/pr20176a.html

Autism Spectrum Disorder is a disorder that has been defined by the medical community, but so far, none of the medications available for ASD treat the core symptoms of the disease, but rather secondary symptoms such as agitation or hyperactivity. Because ASD is genetically linked to Fragile X syndrome, researchers noticed that in a mouse model, the drug arbaclofen reduced what would be core symptoms of autism, such as combatting social avoidance and improving social function. A randomized placebo-controlled trial was conducted to test this idea and the results were recently published in Neuropsychopharmacology. Listen to the latest BrainPod to hear Dr. Jeremy Veenstra-VanderWeele discuss these results!

Article:

Arbaclofen in Children and Adolescents with Autism Spectrum Disorder: A Randomized, Controlled, Phase 2 Trial

https://www.nature.com/npp/journal/v42/n7/full/npp2016237a.html