Springer Nature

Related articles: Attention: Direct-To-Consumer patrons: Proceed with caution https://www.nature.com/articles/s41436-018-0030-8 False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care https://www.nature.com/articles/gim201838

Burst activation of dopamine neurons produces prolonged post-burst availability of actively released dopamine For years now, scientists have noticed a rather strange phenomenon in animal models: scientists would stimulate dopamine production in the brain, but once the stimulation was over, the dopamine would remain. Bita Moghaddam is chair and professor of behavioral neuroscience at Oregon Health...

The question of whether neurogenesis persists in humans and for how long — that is, whether and where humans grow new neurons in their brains, and how long into our lives — is one that has engaged neuroscientists for decades. Some papers showed that humans did retain neurogenesis into adulthood, but the issue has been debated. That debate was reignited just recently with the publication of two new...

Welcome to the first episode of the newly revamped Heredity podcast! What is the journal Heredity? How conserved is the molecular basis of spider silk? And what effect does the creation of human-made river barriers have on the genetic diversity of low-mobility fish populations? Tune in to hear discussions with the editors behind the journal and the people behind the research in June's edition of H...

A major source of second hand smoke (SHS) exposure in infants is the home. Some parents are aware of this risk and make efforts to minimise the exposure by employing a total ban on smoking in the home. However many families opt for a partial smoking ban, only smoking in certain rooms, at certain times, or at certain distances from the child and practice avoidance behaviours like opening windows. I...

There are approximately 130,000 infants hospitalised each year in the US due to bronchiolitis. The majority of these cases are caused by either rhinovirus or respiratory syncytial virus (RSV). Rhinovirus is associated with increased risks of acute and chronic respiratory outcomes compared with RSV, however the underlying mechanisms remain unclear. In this episode, Kohei Hasegawa from the departmen...

Related article: Representing a “revolution”: how the popular press has portrayed personalized medicine https://www.nature.com/articles/gim2017217

Related article - Hereditary cancer gene panel test reports: wide heterogeneity suggests need for standardization https://www.nature.com/articles/gim201823

There's a technology that's proven to be increasingly useful in the past decade — it's called DREADD, or "designer receptors exclusively activated by designer drugs." The current approach is to create a designer receptor that is unlocked by the drug, clozapine-n-oxide, or CNO. Researchers have used it to study the function of populations of neurons or of particular pathways in the brains in rodent...

Over the past twenty years, new sciences have developed around the delivery of high quality, safe healthcare, and Pediatric Research has recognized these developments with the creation of a new section dedicated to research in these areas. In this episode, we discuss the Quality and Patient Safety section with newly-appointed editor, Peter Lachman. Related article: https://www.nature.com/articles/...

Related articles: CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype https://www.nature.com/articles/gim2017200 Mosaic disorders and the Taxonomy of Human Disease https://www.nature.com/articles/gim2017213

Relating to article: Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing results https://www.nature.com/articles/gim2017219

One system which is thought to falter in preterm neonates is the cerebrovascular autoregulatory system, which helps to maintain a constant supply of oxygen to the brain. When this system falters in the setting of hypotension, it can lead to intraventricular haemorrhage, which in turn, can lead to serious neuro-developmental impairment. In this episode, we meet Zachary Vesoulis, a Pediatrician at W...

It has been known for over 20 years that antidepressant exposure in utero may be associated with poor neonatal adaptation and discontinuation like symptoms in neonates. Poor neonatal adaptation syndrome, or 'PNAS' presents as a distinct set of gastrointestinal, neurological and respiratory symptoms. In this episode we meet Professor Megan Galbally, Foundation Chair in Perinatal Psychiatry at the U...

Related article: The current state of funded NIH grants in implementation science in genomic medicine: a portfolio analysis https://www.nature.com/articles/gim2017180

Related article: Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study https://www.nature.com/articles/gim2017132

The 2018 issue of Neuropsychopharmacology Reviews, "Cannabis and Cannabinoids: From Synapse to Society," showcases the remarkable advances in the biology of cannabinoids and cannabis in the past two decades, ranging from their impact at the synaptic level through to public health. Edited by Margaret Haney and Matthew N Hill, this issue represents current findings across several major research area...

Veerajalandhar Allareddy is a pediatric cardiac critical care physician in the Stead Family Children's Hospital, University of Iowa. In recent years, he has become interested in marrying his clinical work with studies into public health issues in pediatrics, which he believes are under researched and under reported. In this episode we discuss one such issue: the rising trend of opioid abuse in chi...

Many people who exercise regularly have experienced a so-called "runner's high," either a feeling of euphoria after exercise, or a feeling of happiness and well-being. Scientists have studied this and found that exercise does indeed improve mood and combat stress, for instance, but researchers at Finland's University of Turku wanted to know: Are endorphins being produced in and thus affecting the...

Studies have shown that stress and trauma early in life can lead to an increased risk for drug addiction later in life. In rat models developed to mimic and study this effect, some rats received normal maternal care, while others received enriched maternal care - extra grooming and attention from their mothers. Those with enriched maternal care have been shown to be less likely to return to a room...

Related articles: Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes https://www.nature.com/articles/gim2017121 Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening? https://www.nature.com/articles/gim2017161

Related articles: Genomic diagnostics within a medically underserved population: efficacy and implications https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201776a.html Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk https://www.nature.com/gim/journal/vaop/ncurrent/full/gim201796a.html

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...

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...