having fun with people and pixels, via racery, pullquote, twiangulate, improv, running
The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated | Genetics in Medicine
Until very recently, the fragmented distribution of patients across institutions hindered the discovery of new rare diseases. Clinicians working with a single, isolated patient could steadily eliminate known disorders but do little more. Families would seek clinicians with the longest history and largest clinic volume to increase their chances of finding a second case, but what does a physician do when N = 1 or if the phenotype is inconsistent across patients? These challenges are driving an increase in the use of NGS. Yet this technological advance presents new challenges of its own. Perhaps the most daunting, in our opinion, is the inability to share sequencing data quickly and universally. Standards and bioinformatic tools are needed that allow for a national repository where families or scientists can bring clinical results and NGS data for comparison. This challenge can be circumvented by tools already created for and by the Internet and social media.
Time Might Only Exist in Your Head. And Everyone Else's | WIRED
However, the two scientists who penned this recent paper say that, in the Wheeler-DeWitt equation, gravity's effects kick in too slowly to account for a universal arrow of time. "If you look at examples and do the math, the equation doesn't explain how time's direction emerges," says Robert Lanza, a biologist, polymath, and co-author of the paper. (Lanza is the founder of biocentrism, a theory that space and time are constructs of biological sensory limitations.) In other words, those nimble quantum particles ought to be able to keep their property of superposition before gravity grabs hold. And if, say, gravity is too weak to hold an interaction between two molecules as they decohere into something larger, then there's no way it can force them to move in the same direction, time-wise.
Effective self-control strategies involve much more than willpower -- ScienceDaily
They observe that in some cases the best self-control strategy involves us changing the situation to create incentives or obstacles that help us exercise self-control, such as using apps that restrict our phone usage or keeping junk food out of the house. In other cases it's more effective to change how we think about the situation -- for example, by making an if-then plan to anticipate how we'll deal with treats in the office -- so that exercising self-control becomes more appealing or easier to accomplish.
Other strategies work better when someone else implements them for us. For example, our electricity company might use social norms to prompt a change in our thinking, showing us how our energy usage compares with that of our neighbors. And policymakers often use situational constraints to prompt behavior focused on the long-term. Examples range from incentives (e.g., tax rebates for eco-friendly building materials) to penalties (e.g., raising taxes on cigarettes and alcohol). Employers are increasingly using another type of situational constraint, defaults, to encourage employees to save for retirement; many are requiring people to opt out of an employer-provided retirement plan if they don't want to participate.
Immersive virtual reality therapy shows lasting effect in treatment of phobias in children with autism -- ScienceDaily
The Blue Room, developed by specialists at Newcastle University working alongside innovative technology firm Third Eye NeuroTech, allows the team to create a personalised 360 degree environment involving the fear which may debilitate the person with autism in real life.
Within this virtual environment, which requires no goggles, the person can comfortably investigate and navigate through various scenarios working with a therapist using iPad controls but remain in full control of the situation.
Funded by the National Institute for Health Research (NIHR), the research findings are published in two papers today in the Journal of Autism and Developmental Disorders and in Autism in Adulthood.
"For many children and their families, anxiety can rule their lives as they try to avoid the situations which can trigger their child's fears or phobia," says Professor Jeremy Parr, Institute of Neuroscience, Newcastle University, who led the studies.
They wanted to find out if interval training might match a continuous moderate intensity workout for overall weight loss (total absolute fat mass) and reductions in percentage body fat-the percentage of fat that makes up body weight-despite taking less time to do.
Interval training describes intermittent intense effort, interspersed with recovery periods. The two most common types are high intensity interval training, or HIIT for short, which includes various exercises; and sprint interval training, which includes running, jogging, speed walking, and cycling.
So they searched research databases for relevant studies that directly or indirectly compared interval training with continuous moderate intensity exercise over a period of at least four weeks.
The data from 41 studies involving 1115 people were combined for thematic analysis and the results data from 36 studies involving 1012 people were pooled.
Both interval training and a continuous workout reduced overall weight and percentage body fat, irrespective of starting weight or gender, the findings showed.
Exercise might improve health by increasing gut bacterial diversity -- ScienceDaily
The findings suggest that exercise at a sufficiently high intensity, to improve cardiorespiratory fitness, may support health through favourable alterations in the presence, activity and clustering of gut microbes. Such exercise-induced improvements, in cardiorespiratory fitness, often correspond with central (e.g. increased volume of blood pumped by the heart each beat) and peripheral adaptations (e.g. increased number of capillaries to transport oxygen from blood to muscles).
Open-science model for drug discovery expands to neurodegenerative diseases -- ScienceDaily
Open science is a way for researchers to share their data and knowledge quickly and publicly, unencumbered by patents and the peer review publishing process, with the aim of speeding up scientific discovery. The movement gathered force in the life sciences in the 1990s with the Human Genome Project, and spread to protein structures and then early-stage drug discovery through the Structural Genomics Consortium (SGC).
He knew an Irish composer who lived in Paris and who noticed a pattern at his local boulangerie. Customers who said “Bonjour!” in an ascending line, with two notes a sixth apart, got served first. English has similar patterns, studies have found. We use minor thirds when telling sad stories and major thirds when telling happy ones. We match pitches with those we admire and expect the same of those who admire us. We harmonize when we agree—starting our sentences a perfect fifth or an octave from where the last sentence left off—and grow dissonant when we disagree. Our arguments are full of tritones.
Whether we know it or not, Wells said, we’re always singing.
Roomful of Teeth Is Revolutionizing Choral Music | The New Yorker
Christian monks sang in unison for nearly a thousand years before they allowed themselves a second vocal line, and then only in lockstep with the melody. Three-part harmony had to wait another three centuries, when English and French clergymen added a third or a sixth to the chord. And what we think of as classical harmony, with major and minor keys and chords that follow the bass line, didn’t emerge until the Renaissance. As late as the seventeen-hundreds, the tritone—a dissonant interval of two notes, three whole steps apart—was reviled as diabolus in musica: the devil in music.
The unexpected creates reward when listening to music: Scientists prove difference between expected/actual outcomes cause reward response -- ScienceDaily
Using an algorithm, the researchers then determined the reward prediction error for each choice -- the difference between an expected reward and the actual reward received. They compared that data to the MRI data, and found that reward prediction errors correlated with activity in the nucleus accumbens, a brain region that in previous studies has been shown to activate when the subject is experiencing musical pleasure. This is the first evidence that musically elicited reward prediction errors cause musical pleasure. It is also the first time an aesthetic reward such as music has been shown to create such a response. Previous studies have focused on more tangible rewards such as food or money.
Subjects whose reward prediction errors most closely matched activity in the nucleus accumbens also showed the most progress in learning the choices that led to the consonant tones. This establishes music as a neurobiological reward capable of motivating learning, showing how an abstract stimulus can engage the brain's reward system to potentially pleasurable effect and motivate us to listen again and again.
Pitch perfect: Strategic language use maximizes the chances of influencing an audience: Researcher determines pitching strategies used by influential entrepreneurs -- ScienceDaily
"In our paper we call it a logical time gap, which basically refers to the idea that if someone pitches an idea to you and you start thinking about how it plays out in the future, then these things don't match because you don't know what the future looks like," Dr van Werven said.
"But if you talk about the future in terms of the present, both the evidence and the claim are in the same time and space.
Pitch perfect: Strategic language use maximizes the chances of influencing an audience: Researcher determines pitching strategies used by influential entrepreneurs -- ScienceDaily
The study found that entrepreneurs who successfully influenced their audience often implied a point without actually making it when talking about the future; they encouraged their audience to fill in the blanks.
"The audience becomes engaged, they start becoming a part of the argument, they actually even complete it, so they're more likely to be convinced by it," Dr van Werven said.
Brain clock ticks differently in autism -- ScienceDaily
Sensory areas of the brain that receive input from the eyes, skin and muscles usually have shorter processing periods compared with higher-order areas that integrate information and control memory and decision-making. The new study, published in the journal eLife on February 5, shows that this hierarchy of intrinsic neural timescales is disrupted in autism. Atypical information processing in the brain is thought to underlie the repetitive behaviors and socio-communicational difficulties seen across the spectrum of autistic neurodevelopmental disorders (ASD), but this is one of the first indications that small-scale temporal dynamics could have an outsized effect.
Newly isolated human gut bacterium reveals possible connection to depression -- ScienceDaily
The research team from the U.S. Department of Energy's (DOE) Argonne National Laboratory, Northeastern University and elsewhere made the connection by first isolating the KLE1738, a bacterium that has a surprising dependency upon a brain chemical called gamma-aminobutyric acid (GABA).
"The association of microbial GABAmetabolism with mental health is highly compelling," said Jack Gilbert, group leader for microbial ecology at Argonne who also holds new faculty appointments at the University of California, San Diego, in the Department of Pediatrics and at Scripps Institution of Oceanography. "The general ability of the microbiome to produce and/or consume GABA has not been as broadly described before, and a bacterium dependent on GABAhas never been reported."
Mathematical monotsukuri: Summing a constant may help to detect synchronized brain activity -- ScienceDaily
Humans are good at detecting whether separate things happen simultaneously, for example, if two lights flash together or not. When two swings move with a regular motion, it is easy to tell whether there is any temporal relationship or "synchronization." However, the trajectory of some objects, such as kites, can be very complicated but still exhibit some pattern, even though our eyes may fail to follow it; such systems are called "chaotic." In physics, chaos does not mean lack of order; it indicates the presence of a very complicated type of order. Such situations can be found across very different scenarios, including the activity of neurons.
When trajectories, which do not necessarily correspond to physical movement and can instead represent electrical signals, are sufficiently complicated, it becomes challenging to determine if they are synchronized. In many cases, only some aspects of their motion might be interrelated. Hence, measuring synchronization is difficult and has been the subject of research for decades.
Stimulating the vagus nerve in the neck might help ease pain associated with PTSD -- ScienceDaily
Lerman especially wants to know how the emotional pain experience may be influenced by the vagus nerve, which runs down both sides of our necks from the brainstem to the abdomen. The vagus nerve also plays a critical role in maintaining heart rate, breathing rate, digestive tract movement and many other basic body functions.
In a study published February 13, 2019 in PLOS ONE, Lerman and colleagues tested noninvasive vagus nerve stimulation as a method for dampening the sensation of pain.
"It's thought that people with certain differences in how their bodies -- their autonomic and sympathetic nervous systems -- process pain may be more susceptible to PTSD," Lerman said. "And so we wanted to know if we might be able to re-write this 'mis-firing' as a means to manage pain, especially for people with PTSD." Lerman led the study with Alan N. Simmons, PhD, director of the fMRI Research Laboratory at Veterans Affairs San Diego Healthcare System and associate professor of psychiatry at UC San Diego School of Medicine.
Platelet 'decoys' outsmart both clots and cancer: Deactivated platelets offer a potential drug-free, reversible antiplatelet therapy -- ScienceDaily
Now, a team of researchers at the Wyss Institute at Harvard University and several collaborating institutions has created a drug-free, reversible antiplatelet therapy that employs deactivated "decoy" platelets that could reduce the risk of blood clots and potentially prevent cancer metastasis as well. The research is reported in Science Translational Medicine.
"The reversibility and immediate onset of action are major advantages of our platelet decoys, and we envision them to be useful in hospital-based situations such as preventing clotting in high-risk patients just before they undergo surgery, or when given alongside chemotherapy to prevent existing tumors from spreading," said first author Anne-Laure Papa, Ph.D., who was a postdoctoral fellow at the Wyss Institute working with the Institute's Founding Director, Donald Ingber, M.D., Ph.D. when the research was carried out and is now an Assistant Professor at George Washington University. Ingber is also the Judah Folkman Professor of Vascular Biology at Harvard Medical School and the Vascular Biology Program at Boston Children's Hospital, as well as Professor of Bioengineering at Harvard's School of Engineering and Applied Sciences.
Cannabis use in teens linked to risk of depression in young adults: Cannabis use among adolescents is found to be associated with increased risk of depression and anxiety in adulthood -- ScienceDaily
'Regular use during adolescence is associated with lower achievement at school, addiction, psychosis and neuropsychological decline, increased risk of motor vehicle crashes, as well as the respiratory problems that are associated with smoking.'
The active ingredient in cannabis,THC, mediates most of psychoactive and mood-related effects of cannabis and also has addictive properties. Preclinical studies in laboratory animals reported an association between pubertal exposure to cannabinoids and adult-onset depressive symptoms. It is thought that cannabis may alter the physiological neurodevelopment (frontal cortex and limbic system) of adolescent brains.
Protein released from fat after exercise improves glucose -- ScienceDaily
"In contrast to the negative effects of many adipokines, our study identified transforming growth factor beta 2 (TGF-beta 2) as an adipokine released from adipose tissue (fat) in response to exercise that actually improves glucose tolerance," says Laurie J. Goodyear, PhD, Head of Joslin's Section on Integrative Physiology and Metabolism and study co-author.
Not only did exercise-stimulated TGF-beta 2 improve glucose tolerance, treating obese mice with TGF beta 2 lowered blood lipid levels and improved many other aspects of metabolism.
"The fact that a single protein has such important and dramatic effects was quite impressive," says Goodyear, Professor of Medicine at Harvard Medical School.
Two years ago, the international research team first demonstrated that adipose tissue offers beneficial metabolic effects in response to exercise.
"Our hypothesis was that exercise is changing the fat, and as a result of that change, the fat releases these beneficial proteins into the bloodstream," says Goodyear. "Before this discovery, we always just focused on the positive effects of muscle."
Your genes could impact the quality of your marriage: Specific genes relevant to how partners provide and receive support from each other -- ScienceDaily
"However, what emerged as most relevant to overall marital quality for both partners was genotypic variation among husbands at a specific location on OXTR. Husbands with a particular genotype, which other researchers associated with signs of social deficits, were less satisfied with the support they were provided. Being less satisfied with the support they got from their wives was also associated with being less satisfied with their marriage.
The researchers hope their findings provide the foundation for replication and additional study of OXTR as an enduring determinant of marital functioning, as well as encourage research more broadly evaluating the role of genetic factors in interpersonal processes important to overall marital quality.
"Genes matter when it comes to the quality of marriage, because genes are relevant to who we are as individuals, and characteristics of the individual can impact the marriage," said Mattson. "Our findings were the first to describe a set of genetic and behavioral mechanisms for one possible route of the genetic influence on marriage. In addition, we added to the increasing awareness that the expression of genotypic variation differs greatly depending on context."
Higher sodium intake associated with increased lightheadedness in the context of the DASH-sodium trial: Study turns common knowledge on its head by challenging experts' traditional recommendations -- ScienceDaily
However, contrary to this recommendation, researchers at Beth Israel Deaconess Medical Center (BIDMC) found that higher sodium intake, when studied in the context of the DASH-Sodium trial (Dietary Approaches to Stop Hypertension), actually increases lightheadedness. These findings challenge traditional recommendations to increase sodium intake to prevent lightheadedness. The study appeared today in the Journal of Clinical Hypertension.
"Our study has real clinical and research implications," said Stephen Juraschek, MD, PhD, the study's corresponding author and a primary care physician at BIDMC. "Our results serve to caution health practitioners against recommending increased sodium intake as a universal treatment for lightheadedness. Additionally, our results demonstrate the need for additional research to understand the role of sodium, and more broadly of diet, on lightheadedness."
Scientists Crack A 50-Year-Old Mystery About The Measles Vaccine : Goats and Soda : NPR
Well, say you get the chicken pox when you're 4 years old. Your immune system figures out how to fight it. So you don't get it again. But if you get measles when you're 5 years old, it could wipe out the memory of how to beat back the chicken pox. It's like the immune system has amnesia, Mina says.
"The immune system kind of comes back. The only problem is that it has forgotten what it once knew," he says.
So after an infection, a child's immune system has to almost start over, rebuilding its immune protection against diseases it has already seen before.
This idea of "immune amnesia" is still just a hypothesis and needs more testing, says epidemiologist William Moss, who has studied the measles vaccine for more than a decade at Johns Hopkins University.
Study examines aspirin use to prevent colorectal cancer -- ScienceDaily
Hennekens was the first to demonstrate that aspirin significantly reduces a first heart attack as well as recurrent heart attacks, strokes, and cardiovascular death when given within 24 hours after onset of symptoms of a heart attack as well as to a wide variety of patients who have survived a blockage in the heart, brain or legs. His landmark and first discoveries on aspirin are not limited to cardiovascular disease and include the prevention of recurrent migraine headaches. He also hypothesized from earlier observational study data that aspirin may decrease risks of colorectal cancer and delay cognitive loss as well as reduce the development of type 2 diabetes. Since then, randomized trials and their meta-analyses have indicated that aspirin prevents colorectal polyps as well as colorectal cancer.
"More than 90 percent of patients diagnosed with colorectal cancer are 50 years or older. The major risk factors are similar to those for heart attacks and stroke and include overweight, obesity as well as physical inactivity, a diet low in fiber and high in fat as well as type 2 diabetes," said Lawrence Fiedler, M.D.
When the insurance company monitors your driving in real time does it help? New research finds that it helps on a number of levels, from safety to consumer cost -- ScienceDaily
"We found that UBI users tend to improve the safety of their driving in general, and in once specific area by decreasing their daily average number of hard-brakes by an average of 21 percent after six months," said Miremad Soleymanian. "Our research found that the number miles driven tend to stay the same and that both younger drivers and females tend to improve their UBI scores more than older drivers and males."
Male Y chromosomes not 'genetic wastelands' -- ScienceDaily
Using sequence data generated by new technology that reads long strands of individual DNA molecules, Chang and Larracuente developed a strategy to assemble a large part of the Y chromosome and other repeat-dense regions. By assembling a large portion of the Y chromosome, they discovered that the Y chromosome has a lot of duplicated sequences, where genes are present in multiple copies. They also discovered that although the Y chromosome does not experience crossing over, it undergoes a different type of recombination called gene conversion. While crossing over involves the shuffle and exchange of genes between two different chromosomes, gene conversion is not reciprocal, Larracuente says. "You don't have two chromosomes that exchange material, you have one chromosome that donates its sequence to the other part of the chromosome" and the sequences become identical.