Recent quotes:

A researcher with ALS wishes a polygenic analysis had warned him - STAT

Two years ago, had I been given even a tiny hint that my genes were tipping the scale for the development of a disease that would lock me into my body, unable to move or breath normally on my own, I would have been sad, and probably mad. But then I would have packed more hours into developing genetic analyses to help people solve diseases like ALS. So now I’m running as fast as I can — from my wheelchair.

Facebook’s cardiologist on social media's role in health research

But at a high level, he said, “I can tell you what we do — which is really focus on public health evidence-base-driven interventions and analyses.” Facebook has a relatively flat organizational structure, he said, and there are a number of different people across the company working on different aspects of health. Abnousi, for example, isn’t closely involved in the work to crack down on vaccine misinformation, he said.

The FBI searched the offices of microbiome startup uBiome | TechCrunch

“Regrettably… we are terminating our consumer program. Our decision to do so is attributable to the simple fact that the cost of providing the service exceeds what our customers can pay for it,” the company wrote on its website. “We believe the costs of collecting the genetic, blood and microbiome assays that form the foundation of the program will eventually decline to a point where the program can be delivered to consumers cost-effectively. However, we are unable to continue to operate at a loss until that time arrives.”

Sweat holds most promise for noninvasive testing -- ScienceDaily

Last year the lab created the world's first continuous-monitoring sensor that can record the same health information in sweat that doctors for generations have examined in blood. The milestone is remarkable because the continuous sensor allows doctors to track health over time to see whether a patient is getting better or worse. And they can do so in a noninvasive way with a tiny patch applied to the skin that stimulates sweat for up to 24 hours at a time. "This is the Holy Grail. For the first time, we can show here's the blood data; here's the sweat data -- and they work beautifully together," Heikenfeld said. Heikenfeld and his students published their latest experimental findings in December in the journal Lab on a Chip. UC's study tracked how test subjects metabolized ethanol. The study concluded that sweat provided virtually the same information as blood to measure a drug's presence in the body.

Blood test to diagnose heart attacks is flawed, warn researchers: One in 20 patients had test levels higher than recommended limit -- study results could help to avoid misdiagnosis and inappropriate treatment -- ScienceDaily

This recommended level is used as the upper limit of normal (ULN). In other words, if the value of troponin is above the 99th percentile, that is considered to be abnormal, and would indicate a heart attack in appropriate clinical circumstances. But little is known about the true distribution of the troponin level across a whole hospital population that includes inpatients, outpatients, patients undergoing surgery, in intensive care etc. So researchers measured levels of high sensitivity cardiac troponin I (hs-cTnI) in 20,000 inpatients and outpatients undergoing blood tests for any reason at University Hospital Southampton between 29 June and 24 August 2017. The average age of participants was 61 and 53% (10,580) were women. The researchers found that the 99th centile of troponin for the whole study population was 296 ng/L compared with the manufacturer's recommended level of 40 ng/L. One in 20 (1,080; 5.4%) of all 20,000 patients had a troponin level greater than 40 ng/L, but in most of these patients there was no clinical suspicion of a heart attack. Overall, 39% of all patients from the critical care units, 14% of all medical inpatients, and 6% of all patients from the emergency department had a troponin concentration greater than the recommended ULN.

Genomics could better match treatments to pancreatic cancer patients -- ScienceDaily

"Every pancreatic cancer is different, and performing molecular profiling of each patient's tumor could help determine the best treatment options," said lead author Aatur Singhi, M.D., Ph.D., surgical pathologist at UPMC and assistant professor of pathology at Pitt. "Rather than blindly giving patients the same chemotherapy, we want to tailor a patient's chemo to their tumor type. A one-size-fits-all approach isn't going to work. Therefore, we would like to make molecular profiling standard-of-care for patients with pancreatic cancer."

The frequency of diagnostic errors in outpatient care: estimations from three large observational studies involving US adult populations | BMJ Quality & Safety

Data sources included two previous studies that used electronic triggers, or algorithms, to detect unusual patterns of return visits (primary care study) or lack of follow-up of abnormal clinical findings for colorectal cancer (CRC) (colon cancer study), both suggestive of diagnostic errors.4 ,6 A third study examined consecutive cases of lung cancer in two institutions (lung cancer study).5 In all three studies, diagnostic errors were confirmed through chart review and defined as missed opportunities to make a timely or correct diagnosis based on available evidence. The criteria for diagnostic errors were comparable across the three studies and excluded atypical presentations and appropriate decisions to watch and wait.

Could we soon be able to detect cancer in 10 minutes? | Science | The Guardian

Looking for ctDNA has become a viable proposition in recent years because of improvements in DNA sequencing technologies that make it possible to scan fragments and find those few with alterations that may indicate cancer. While other blood-based biomarkers are being investigated, the advantage of ctDNA is that, because it has a direct link to the tumour, it can be very specific at identifying cancer. For that reason, ctDNA is also showing promise as a way to profile and monitor advanced stage cancers, a “liquid biopsy”. Early detection is a harder problem. Early on, when the tumour is small, there is not as much ctDNA to detect. The women Illumina identified as having cancer were all late, not early stage.

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.

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.

Only 1115 people?!

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.

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."

This is a neuron on nicotine: Nicotine works inside cells to reinforce addiction -- ScienceDaily

By making movies of cells containing biosensors in a lab dish, the team has discovered that nicotine enters into the endoplasmic reticulum within a few seconds of appearing outside a cell. Furthermore, the nicotine levels are more than enough to affect nAChRs during their assembly and to chaperone additional nAChRs on their journey to the cell surface. As a result, the neurons are more sensitive to the nicotine, which enhances the rewarding feelings after a puff on a tobacco cigarette or an e-cigarette. In other words, the more a person smokes, the more quickly and easily the smoker gets a nicotine buzz. This is part of nicotine addiction.

Side-effects not fully reported in more than 30 percent of healthcare reviews -- ScienceDaily

The new study looked at the reporting of adverse events in 187 systematic reviews published between 2017 and 2018. Systematic reviews in health research aim to summarise the results of controlled healthcare interventions and provide evidence of the effectiveness of a healthcare intervention. Research showed that 35 per cent of reviewers did not fully report the side-effects of the medical intervention under review. Dr Su Golder, from the University of York's Department of Health Sciences, said: "Despite reviewers stating in their own protocols that adverse events should be included in the review, 65 per cent fully reported the event as intended by the protocol, eight per cent entirely excluded them, and the remaining 27 per cent either partially reported or changed the adverse event outcomes." "Just over 60 per cent, however, didn't even include adverse events in their protocols, which suggests that a more proactive approach is needed to prompt reviewers to report on potential harmful side-effects in their reporting of healthcare interventions."

Do differences in gait predict the risk of developing depression in later life? -- ScienceDaily

Gait parameters and mental health both have significant impacts on functional status in later life. The study's findings suggest that gait problems may represent a potentially modifiable risk factor for depression.

A deep neural network learning algorithm outperforms a conventional algorithm for emergency department electrocardiogram interpretation - ScienceDirect

Cardiologs® vs. Veritas® accuracy for finding a major abnormality was 92.2% vs. 87.2% (p < 0.0001), with comparable sensitivity (88.7% vs. 92.0%, p = 0.086), improved specificity (94.0% vs. 84.7%, p < 0.0001) and improved positive predictive value (PPV 88.2% vs. 75.4%, p < 0.0001). Cardiologs® had accurate ECG interpretation for 72.0% (95% CI: 69.6–74.2) of ECGs vs. 59.8% (57.3–62.3) for Veritas® (P < 0.0001). Sensitivity for any abnormal group for Cardiologs® and Veritas®, respectively, was 69.6% (95CI 66.7–72.3) vs. 68.3% (95CI 65.3–71.1) (NS). Positive Predictive Value was 74.0% (71.1–76.7) for Cardiologs® vs. 56.5% (53.7–59.3) for Veritas® (P < 0.0001).

Ping An Good Doctor blazes trail in developing unstaffed, AI-assisted clinics in China | South China Morning Post

Each clinic, which is about the size of a traditional telephone booth, enables users to consult a virtual “AI doctor” that collects health-related data through text and voice interactions. After the AI consultation, the information gathered is reviewed by a human doctor who then provides the relevant diagnosis and prescription online. Customers can buy their medicine from the smart drug-vending machine inside the clinic.

A new sort of health app can do the job of drugs – The Economist – Medium

Most apps are developed by startups, many of which are based in and around Boston. One such, Pear Therapeutics, has a pipeline of treatments at various stages of development, much like a conventional pharmaceutical firm. These apps are aimed at treating a range of conditions: opioid addiction, schizophrenia, anxiety, insomnia, post-traumatic stress disorder (PTSD), depression and chronic pain. Pear’s reSET app, for instance, which treats disorders involving the misuse of alcohol, cocaine and other stimulants, has been approved for sale and should be on the market in early 2018. The app will be more effective than conventional treatments, claims Corey McCann, Pear’s chief executive. It carefully trains patients to recognise daily triggers and cravings and to monitor and track these with their doctor.