Culture

Think you have chemical intolerance? Answer 3 questions

Intolerances to chemicals, foods and drugs impact 8%-33% of individuals, studies suggest, yet few people are screened for it at their doctors’ offices.

To address this and increase awareness of chemical intolerance, researchers at The University of Texas Health Science Center at San Antonio (UT Health San Antonio) developed and validated a three-question, yes-or-no survey that primary care providers, allergists, dermatologists and other specialists can incorporate into patient visits. The survey, called the Brief Environmental Exposure and Sensitivity Inventory, or BREESI, can also be used by researchers and patient groups, and for epidemiological studies in exposed populations.

Sept. 16 in the journal PLOS ONE, the researchers reported that the BREESI accurately predicts scores on a comprehensive 50-question survey called the Quick Environmental Exposure and Sensitivity Inventory (QEESI). The QEESI, which the UT Health San Antonio group introduced online in 2014, is available at no charge to patients and clinicians. Researchers worldwide are using it, making it the new standard for measuring chemical intolerance.

“People who become ill from exposures to chemicals, such as bleach, disinfectants, pesticides, mold, combustion products or volatile organic compounds (VOCs), have higher scores on the QEESI,” said Claudia S. Miller, MD, MS, professor emeritus in the Joe R. and Teresa Lozano Long School of Medicine at UT Health San Antonio. “But the QEESI is a little long for rapid screening.”

Carlos Jaén, MD, PhD, professor and chairman of the Department of Family and Community Medicine at the university, suggested that the team develop and test a brief screening questionnaire.

Predictive value

The BREESI focuses on three different exposure categories: chemical inhalants, drugs/medications and foods/food additives. The research team enrolled 293 volunteers from a university-based primary care clinic and online to complete the BREESI and QEESI.

“The BREESI showed high sensitivity and specificity,” according to the authors.

Of respondents who said “yes” to all three BREESI questions, 90% had scores “very suggestive” of chemical intolerance.
Of those who said “no” to all three BREESI questions, 95% had scores “not suggestive” of chemical intolerance.

Ray Palmer, PhD, professor of family and community medicine at UT Health San Antonio, said the team is currently validating the BREESI in larger, population-based studies in the U.S. and internationally.

“Only a minute or two is required to administer the BREESI, making routine evaluation of chemical intolerance feasible for medical and surgical workups, epidemiological investigations, and before-and-after studies of environmental exposure events such as the Gulf War burn pits or 9/11,” Dr. Miller said.

California wildfires

Currently, Dr. Miller is concerned that misuse of disinfectants to combat COVID-19 may be endangering susceptible individuals. Combustion products from the California wildfires are another concern. Outgassing of volatile organic chemicals (VOCs) from new construction, remodeling and “sick” buildings frequently triggers chemically intolerant individuals’ symptoms.

“Quick screening questionnaires are used routinely in clinics today, e.g., for quality of life or substance abuse, or reactions to antibiotics or latex, and we believe chemical intolerance also needs to be assessed routinely, given its high prevalence,” Dr. Palmer said.

Pregnancy and chemicals

It is especially important for expectant mothers to know whether they are chemically intolerant, so that they can work with their physicians and families to eliminate exposures that may affect them and their babies, Dr. Palmer said.

“We encourage physicians to use the BREESI to identify chemically intolerant mothers whose children may be at increased risk for ADHD and autism,” Dr. Palmer said. ADHD is short for attention deficit hyperactivity disorder.

The Marilyn Brachman Hoffman Foundation, for which Dr. Miller is environmental medicine consultant, funded the research. “Our goal is to improve everyone’s understanding of chemical intolerance through research, education, and outreach,” Dr. Miller said. “Educating health care workers is a top priority. We have now given them a useful tool.”

Both the BREESI and the QEESI are available online at no charge. Researchers should contact the TILT Research Program for permission to use these surveys in their studies. TILT is short for Toxicant-Induced Loss of Tolerance.

Three questions for identifying chemically intolerant individuals in clinical and epidemiological populations: The Brief Environmental Exposure and Sensitivity Inventory (BREESI)

Raymond F. Palmer, Carlos R. Jaén, Roger B. Perales, Rodolfo Rincon, Jacqueline N. Forster, Claudia S. Miller

First published: Sept. 16, 2020, PLOS ONE

https://doi.org/10.1371/journal.pone.0238296

# # #

The Long School of Medicine at The University of Texas Health Science Center at San Antonio is named for Texas philanthropists Joe R. and Teresa Lozano Long. The school is the largest educator of physicians in South Texas, many of whom remain in San Antonio and the region to practice medicine. The school teaches more than 900 students and trains 800 residents each year. As a beacon of multicultural sensitivity, the school annually exceeds the national medical school average of Hispanic students enrolled. The school’s clinical practice is the largest multidisciplinary medical group in South Texas with 850 physicians in more than 100 specialties. The school has a highly productive research enterprise where world leaders in Alzheimer’s disease, diabetes, cancer, aging, heart disease, kidney disease and many other fields are translating molecular discoveries into new therapies. The Long School of Medicine is home to a National Cancer Institute-designated cancer center known for prolific clinical trials and drug development programs, as well as a world-renowned center for aging and related diseases.

The University of Texas Health Science Center at San Antonio, also referred to as UT Health San Antonio, is one of the country’s leading health sciences universities and is designated as a Hispanic-Serving Institution by the U.S. Department of Education. With missions of teaching, research, patient care and community engagement, its schools of medicine, nursing, dentistry, health professions and graduate biomedical sciences have graduated more than 37,000 alumni who are leading change, advancing their fields, and renewing hope for patients and their families throughout South Texas and the world. To learn about the many ways “We make lives better®,” visit www.uthscsa.edu.

Journal

PLoS ONE

DOI

10.1371/journal.pone.0238296

Credit: 
University of Texas Health Science Center at San Antonio

Study reveals racial disparities in clinical trial recruitment

Boston, Mass. - As electronic medical records (EMR) become ubiquitous in health care settings, scientists are increasingly turning to electronic-based recruitment methods to encourage participation in clinical trials. However, little is known about how this use of technology compares to more traditional clinical trial recruitment strategies, and some researchers worry that an overreliance on technology has the potential to exclude an eligible and interested diverse participant population.

In a new study published in the journal Clinical Trials, researchers led by Stephen Juraschek, MD, PhD, Assistant Professor of Medicine at Beth Israel Deaconess Medical Center (BIDMC) and Hailey Miller, RN, PhD, Postdoctoral Associate at Duke University School of Nursing, compared four electronic-based recruitment methods and four traditional recruitment methods to determine how different strategies may impact enrollment of groups traditionally under-represented in the medical literature.

"Black Americans are under-represented in clinical trials -- something I'm reminded of every time I counsel Black patients using data from largely white adults," said Juraschek. "Electronic medical records hold tremendous promise to offer patients with relevant conditions the opportunity to participate in clinical trials. However, the impact of electronic-based recruitment methods on participant demographics was unknown."

Juraschek and colleagues used a variety of direct recruitment approaches, both electronic and traditional, to identify adults with gout for a clinical trial examining the links between diet and gout. The team used EMR records to identify prospective enrollees, and messaged them through patient portals -- secure online medical messaging services providers use to communicate with patients. They also used non-targeted approaches such as community mailings and advertisements on social media and in newspapers.

After calculating the response rates, cost efficacy and demographic characteristics of eventual enrollees generated by the various strategies, Juraschek and colleagues found important demographic differences in how white and Black adults enrolled in the study. For example, two-thirds of Black participants had been identified through the electronic medical record but did not have an active patient portal. Instead, these enrollees learned about the study through a brochure sent by mail. Black participants otherwise would not have found out about the trial, which was pertinent to their health condition.

These findings build on Juraschek and Miller's previous research that demonstrated that whites disproportionately use patient portals. While the use of patient portals for recruitment may boost overall enrollment in clinical trials, Juraschek said, overdependence on electronic recruitment could perpetuate the underrepresentation of Black patients in clinical research.

Ultimately, the researchers determined that a hybrid strategy using EMRs to identify patients, followed up with postal mailings to potential enrollees yielded the best results. The hybrid outreach method was both cost-effective and increased participation of underrepresented groups, including Black participants and women.

"All patients have the right to be offered medical therapies informed by studies that represent them," said Juraschek, who is also an Instructor of Medicine at Harvard Medical School. "These findings also demonstrate the importance of a range of recruitment approaches to enroll a representative study population."

Credit: 
Beth Israel Deaconess Medical Center

COVID-19 screening of asymptomatic people could decrease infections, deaths

BOSTON - New research suggests when the COVID-19 pandemic is slowing, low-cost, recurring screening of asymptomatic people - at an expense of approximately $3 or less per test every two weeks - could decrease COVID-19 infections and deaths and be cost-effective. When the pandemic is surging, screening can be cost-effective when done more often, even if tests costs are higher. The report - led by researchers at Massachusetts General Hospital (MGH) - was recently published in Clinical Infectious Diseases.

COVID-19 testing refers generally to testing of people with symptoms of the illness, while screening refers to testing of individuals who do not have symptoms of the infection. In the United States, restricted testing capacity early in the pandemic led states such as Massachusetts to test only severely symptomatic people and those with a known exposure to someone with COVID-19. However, making COVID-19 testing available to all people with symptoms suggestive of the illness, as well as expanding to screening programs for the entire population - including those who are without symptoms - could reduce hospitalizations and deaths, allowing for safe resumption of economic and social activity.

"Massachusetts experienced a major COVID-19 outbreak beginning in March 2020, and while the outbreak is now under reasonably good control, questions remain about how to optimally deploy COVID testing, both in our current situation and in other settings - and communities - where new infections continue to rise," says Anne Neilan, MD, MPH, investigator in the MGH Divisions of General Pediatrics and Infectious Diseases and the Medical Practice Evaluation Center, who led the study. "While some have argued testing must be highly sensitive to be of value, others suggest that sensitivity can be sacrificed if tests are rapid, low-cost, frequent and widely available."

The study used a dynamic transmission model developed by members of the research team (the "CEACOV model") to analyze the outcomes anticipated from several different strategies for COVID-19 testing and screening for the entire population of Massachusetts, using laboratory-based polymerase chain reaction (PCR) tests. The PCR test uses a sample taken from the nose or mouth (usually a nasal swab or a saliva sample), which is then sent to a laboratory that tests for the virus causing COVID-19. The model-based analysis revealed that repeated screening of the entire population would lead to the most favorable clinical outcomes, preventing the greatest number of infections, hospitalizations, and, ultimately, deaths. This was true in a wide range of scenarios, ranging from decreasing to rapidly rising numbers of new cases per day. Such a screening strategy could also be cost-effective, depending on the cost of the test and the frequency of screening.

"Based on the prices that most laboratories are now charging for the PCR test, with our current levels of new COVID-19 cases in Massachusetts, the most cost-effective strategy remains testing only people with symptoms of COVID-19. Importantly, for Massachusetts as of now, this includes testing all people with symptoms, and not only people whose symptoms are severe," says study co-senior author Andrea Ciaranello, MD, MPH, investigator in the Division of Infectious Diseases at MGH. "However, in locations where cases are rising, regular screening of the entire population, while expensive, will actually be of very good value. This is true even at current testing costs around $50 and will be truer if test costs can be brought down substantially. There are creative ways to bring tests costs down; for example, using emerging techniques such as less expensive reagents, pooling of specimens in the lab, or carefully allocating unused testing capacity across cities or regions."

"When the pandemic is slowing, if testing costs can come down to $5 or less, repeat screening of people without COVID symptoms would decrease infections and deaths, and be cost-effective," adds Neilan. "Our data suggest that even now, expanding testing and screening capacity must remain a focus of national efforts." Because the study modeled the use of the laboratory-based PCR tests, the investigators did not evaluate the possible use of even less sensitive and less expensive tests, such as rapid tests used on-site at healthcare facilities (like urgent care locations), schools, or places of employment. Several such tests have been brought to market but are not yet widely available for use in these settings.

Adds Ciaranello, "It is important to note that these strategies involve repeated screening. Screening a group of people just one time, while an interesting snapshot, is an approach that will miss many people who will become able to infect others in the future. Because of this, we also found that screening just once was a less efficient use of healthcare resources under most circumstance than strategies using repeat testing."

"There is also a price to not being able to rapidly deploy testing," says Nielan. "Early in the pandemic, we struggled to provide testing even for people with symptoms of COVID-19. If expanded PCR testing had been widely available in Massachusetts from April to May 2020, our model suggests that more than 100,000 infections and approximately 100 deaths would have been averted during that month alone."

"Expanding testing and screening capacity will require careful logistical planning, and also responsiveness to changes in the numbers of new infections that we are seeing. This needs to be a priority for policymakers seeking to utilize available resources in the most efficient way," says Ciaranello.

Credit: 
Massachusetts General Hospital

How we age

It is well understood that mortality rates increase with age. Whether you live in Tokyo, rural Tennessee or the forests of Papua, New Guinea, the older you are, the more likely you are to succumb to any number of different ailments.

But how, exactly, do our bodies weather with age, and to what extent do people around the word experience physiological aging differently?

In a paper published in a special issue of the journal Philosophical Transactions of the Royal Society B, a team of anthropologists that includes Michael Gurven, a professor of anthropology at UC Santa Barbara and chair of the campus's Integrative Anthropological Sciences Unit, and Thomas Kraft, a postdoctoral researcher in the same department, construct and compare a composite measure of "physiological dysregulation" among human populations and other species. The themed issue explores the evolution of aging among primates.

Physiological dysregulation refers to the wearing down of the body's ability to bounce back from stress, damage or other adversity. Examples include how one's body might gradually become less able to properly regulate blood sugar, or it might more likely mount an inappropriate immune response that doesn't dissipate when the threat is gone (thereby damaging the body's own cells). This decline in resilience is often considered fundamental to aging.

"We're only now able to start piecing together what physiological aging looks like holistically in subsistence populations of foragers and farmers," said Kraft, the paper's lead author. "We first built a comprehensive metric of physiological dysregulation in humans, then compared it to other primates. It's not just the case that adult mortality rates are lower in humans; rates of physiological dysregulation are much slower in humans, too."

For nearly two decades, the Tsimane Health and Life History Project has been collecting a large number of measures of health and aging (referred to as biomarkers) among the Tsimane, an indigenous population of forager-horticulturists in the Bolivian Amazon. These range from the typical measures that might be taken during a regular physical exam -- blood pressure, cholesterol and blood glucose level -- to indicators such as grip strength, various immune markers for inflammation and bone mineral density.

Overall, the current study includes 40 biomarkers among 5,658 adults spread across 22,115 observations. "This makes it one of the only comprehensive longitudinal studies of health in a population living a vastly different lifestyle than the urban, industrialized countries, where most studies occur," said Kraft.

"While any single biomarker gives a snapshot of just one small part of health, what we did was to combine information from many biomarkers simultaneously -- both the levels of these markers and the extent to which they are linked together -- into a single metric," he continued. "This summary metric gives a holistic portrait of one's 'biological age,' by measuring how 'strange' one's combined biomarkers are relative to a healthy subset of the population."

Noted Gurven, co-director of the Tsimane Health and Life History Project, "In the U.S. and many other countries today, we're more likely to die of heart disease, cancer, diabetes and other 'chronic diseases of aging.' But among the Tsimane and other populations living similar lifestyles, these chronic diseases are rare. Does physiological dysregulation occur at the same rate in this very different context?"

To answer this question, the team compared Tsimane with other human populations. "Where adult mortality rates are high, we might expect that aging of our bodies occurs more quickly, tracking closely the higher increase in mortality with age," Gurven explained. "Another possibility -- and a goal for many of us -- is to maintain healthy bodies for as long as we can, and then have everything fall apart close to the eventual timing of our demise."

The researchers found that despite a lifestyle vastly different from that of urban, post-industrialized populations such as those in the United States and Italy, and despite higher mortality rates throughout adulthood, Tsimane adults show only marginally higher rates of increase in physiological dysregulation among the Tsimane.

"Our first glimpse suggests a broad species-typical pattern of physical aging across environments and cultures," said Gurven. "That's a little surprising because the Tsimane have very low levels of late-age chronic diseases. But the Tsimane are exposed to harsher conditions, including strenuous labor tending fields, tropical diseases and minimal access to health care."

Added Kraft, "We also found similarities in physiological dysregulation among Tsimane women and men, despite evidence in many populations showing that men typically age faster and are more likely to die than women at most ages."

As Gurven noted, it's impossible to understand dysregulation and aging without knowing how different parts of the body function over time. "And to date, we have had little understanding of what that looked like in a population like the Tsimane," he said. "Yet the conditions we find ourselves in today, where over half of the global population lives in cities, is just a minor blip in the long history of our species. Groups like the Tsimane offer some of the best insight for our understanding of aging prior to industrialization and urbanization."

All that being said, the researchers are quick to acknowledge that their index is still just a statistical composite. "It's not a complex network model showing how everything is related to everything else," Gurven said. What's amazing, he added, is that our global estimates of physiological dysregulation don't change much once the information from roughly 15 biomarkers are integrated.

"Additional biomarkers tell you little, and it may not even matter which biomarkers you look at once you hit about 20. That seems to suggest that we're capturing something about the whole system," he explained. "And any single biomarker is only weakly correlated with our global index. But we'll learn much more about what it means and how important it might be once we can link dysregulation to useful outcomes, like functional performance, disease states and the likelihood of dying."

Credit: 
University of California - Santa Barbara

40% of O'ahu, Hawai'i beaches could be lost by mid-century

image: Residential area on O'ahu that has experienced significant beach loss due to erosion and shoreline hardening. March 2020.

Image: 
Kammie Tavares

The reactive and piecemeal approach historically used to manage beaches in Hawai'i has failed to protect them. If policies are not changed, as much as 40% of all beaches on O'ahu, Hawai'i could be lost before mid-century, according to a new study by researchers in the Coastal Geology Group at the University of Hawai'i (UH) at Mānoa School of Ocean and Earth Science and Technology (SOEST).

In an era of rising sea level, beaches need to migrate landward, otherwise they drown. Beach migration, also known as shoreline retreat, causes coastal erosion of private and public beachfront property. Shoreline hardening, the construction of seawalls or revetments, interrupts natural beach migration--causing waves to erode the sand, accelerating coastal erosion on neighboring properties, and dooming a beach to drown in place as the ocean continues to rise.

The team of scientists, led by graduate researcher in the SOEST Department of Earth Sciences Kammie Tavares, assessed the shoreline around O?ahu that would be most vulnerable to erosion under three scenarios of sea level rise--all estimated to occur before, and shortly after mid-century.

They identified the location and severity of risk of shoreline hardening and beach loss, and a potential timeline for the increase in erosion hazards. The most threatened properties fall into an "administrative erosion hazard zone," an area likely to experience erosion hazards and qualify for the emergency permitting process to harden the shoreline.

"By assessing computer models of the beach migration caused by 9.8 inches (0.25 meters) of sea level rise, an amount with a high probability of occurring before mid-century, we found that emergency permit applications for shoreline hardening to protect beachfront property will substantially increase," said Tavares.

According to co-author Dr. Tiffany Anderson, Assistant Researcher in the Department of Earth Sciences, "We determined that almost 30 percent of all present-day sandy shoreline on O'ahu is already hardened, with another 3.5 percent found to be so threatened that those areas qualify for an emergency permit today. Our modeling indicates that, as sea level rises about 10 inches (0.25 meters) by mid-century, an additional nearly eight percent of sandy shoreline will be at risk of hardening--meaning at that point, nearly 40% of Oahu's sandy beaches could be lost in favor of hardened shorelines."

"In another study published in 2018, we showed that accelerated erosion on neighboring properties, called flanking, usually leads to additional shoreline hardening, and condemnes entire beaches," said co-author Dr. Chip Fletcher, Associate Dean and Professor in SOEST. "It is clear that management decisions made today, and during the careers of most of today's natural resource managers, will be critical in determining if future generations will inherent a healthy shoreline, or one that has been ruined by seawalls, and other types of shoreline hardening."

Coastal erosion is inevitable when sea level is rising and global mean sea level has been rising for decades and is accelerating. The Intergovernmental Panel on Climate Change has projected continued sea level rise for many centuries, even if greenhouse gas emissions are reduced or stopped altogether. However, economists are projecting that greenhouse gas emissions will likely continue into mid-century and we will see more years like 2019 when the use of fossil fuels rose faster than the use of renewable forms of energy.

"Despite these facts, we continue to see shoreline hardening as the preferred policy choice, largely because management agencies have failed to develop assisted transition plans for beachfront landowners who are caught in a tightening vice because of accelerating sea level rise," said Fletcher. "In fact, directly to the contrary, beachfront lands continue to be sold to unwitting buyers with no appreciation for the expensive and frustrating situation they are entering into."

"Because coastal zone management laws continue to allow hardship variances in this era of rising sea level, despite widespread knowledge that seawalls kill beaches under these conditions, the same legal system designed to protect public trust lands, is responsible for destroying them," according to Fletcher. "Government agencies must develop creative and socially equitable programs to rescue beachfront owners and free the sandy ecosystem so that it can migrate landward as it must in an era of rising seas. It is urgent that options are developed soon for beachfront landowners and resource managers to avoid further destructive management decisions."

"Beaches are critical ecosystems to native plants and animals, offer protection from storms, are an essential cultural setting, and attract tourists, who are important for Hawai'i's current economy," added Tavares. "This research shows that conversations on the future of our beaches and how we will care for them must happen now rather than later, if we are to protect our sandy beaches."

Credit: 
University of Hawaii at Manoa

COVID-19 and the decolonization of Indigenous public health

Indigenous self-determination, leadership and knowledge have helped protect Indigenous communities in Canada during the coronavirus disease 2019 (COVID-19) pandemic, and these principles should be incorporated into public health in future, argue the authors of a commentary in CMAJ (Canadian Medical Association Journal)
.

Indigenous communities in Canada have experienced lower rates of infection and lower death rates from COVID-19 than the general population despite significant differences in social determinants of health, such as adequate housing, access to clean water and healthy food as well as income disparities. First Nations people living on reserve had a COVID-19 case rate 4 times lower than the general population, 3 times fewer deaths and a 30% higher recovery rate.

"Governments, policy-makers and public health providers must embrace the knowledge, expertise and strong leadership of Indigenous communities to face COVID-19," write Dr. Lisa Richardson, a physician at University Health Network and Dr. Allison Crawford, a psychiatrist at Centre for Addiction and Mental Health, Toronto, Ontario.

Public health approaches in Canada were shaped by repressive colonial practices, which outlawed traditional Indigenous cultural and healing practices, forced Indigenous Peoples to seek health care far from their communities and had other negative effects.

The lower incidence of COVID-19 in Indigenous communities may be due to Indigenous ownership of practices to stem the spread of the virus.

"During COVID-19, many Indigenous communities have shown self-determination by articulating and enforcing rules on who can enter their communities, often implementing far stricter measures than those enacted by local municipalities, such as closures and checkpoints," write the authors.

Indigenous self-determination must shape public health approaches during future waves of COVID-19, they urge.

"Anticipating further waves of COVID-19, it is important that the design, implementation and leadership of public health by First Nations, Inuit and Métis communities continue in Canada. At its foundation, Indigenous public health must be self-determined: adapted for the needs of specific nations and grounded in local Indigenous language, culture and ways of knowing; developed, implemented and led by Indigenous Peoples; and informed by ongoing monitoring of data as governed by appropriate data sovereignty agreements."

All levels of governments in Canada must work to address the social determinants of health to improve health in the short-term as well as lay the foundation for longer-term improvements.

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Canadian Medical Association Journal

College students with disabilities at greater risk for substance abuse

College students with physical and cognitive disabilities use illicit drugs more, and have a higher prevalence of drug use disorder, than their non-disabled peers, according to a Rutgers study.

The study, published in the journal Disability and Health Journal, gives new understanding to the risk factors for substance use in students with disabilities and will help develop more effective prevention and treatment strategies.

An estimated 41 percent of college students have used an illicit drug, most widely marijuana. The American College Health Association estimates that 54 percent of students have a disability, including psychiatric disorders, attention deficit hyperactivity disorder, attention deficit disorder, learning disabilities and chronic illnesses like cancer, diabetes or autoimmune disorders.

The researchers looked at 6,189 college or university students in the 2017 National Survey on Drug Use and Health, 15 percent of whom had a disability that affected their hearing, seeing, mobility or mental or emotional functioning. The illicit drugs included marijuana, cocaine, heroin, hallucinogens, inhalants, methamphetamine and prescription medications such as pain relievers, tranquilizers, stimulants and sedatives.

They found that students with a disability had nearly twice the odds than their peers of misusing prescription pain relievers in the past month and were three times more likely to meet the criteria for past-year dependence or abuse of any illicit drug. In the sample, 40 percent of students with any disability reported having used illicit drugs versus 30 percent of their non-disabled peers. Close to 3 percent of students with a disability reported having used heroin versus less than 1 percent of their peers.

"The odds of past-year misuse of prescription pain relievers, in general, was almost twice as high for students with any disability. In fact, students with any disability were two-and-a-half times more likely to have misused OxyContin specifically," said lead author Myriam Casseus, a graduate student at Rutgers School of Public Health. "This may be due, in part, to these students self-medicating for pain and stress management."

Most of the students reporting a disability had a cognitive limitation. The study noted that young adults with ADHD are more likely to become dependent on or abuse nicotine, alcohol, marijuana, cocaine or other substances.

"Our findings suggest that health care providers be aware of the risk of drug misuse when treating college students with disabilities, particularly when prescribing medications that may lead to abuse or dependence," said Judith Graber, associate professor at Rutgers School of Public Health. "Also drug prevention and treatment programs should include interventions for college students with disabilities, especially cognitive."

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Rutgers University

Screening UK Biobank blood samples identifies thousands of undiagnosed cases of type 2 diabetes

A study of approximately 200,000 blood samples from the UK Biobank has identified more than 2,000 undiagnosed cases of type 2 diabetes. The study, presented at this year's Annual Meeting of the European Association for the Study of Diabetes (EASD), also shows that, because UK Biobank data is not reported back to participants, patients found to have undiagnosed diabetes waited on average more than two years for a clinical diagnosis, and around a quarter remained undiagnosed five years later.

The study, by Dr Katherine Young and colleagues at the University of Exeter and the Royal Devon and Exeter NHS Foundation Trust, UK, used a test for monitoring blood glucose control and diagnosing diabetes, known as HbA1c, or 'glycated' haemoglobin. In the UK, type 2 diabetes is predominantly diagnosed through HbA1c testing.

Dr Young said: "As people can have type 2 diabetes for many years without symptoms, diagnosis may be delayed, increasing the risk of complications. Our study shows that population-level screening could identify cases of type 2 diabetes far earlier and potentially reduce complications."

The UK Biobank is a cohort of around half a million participants aged 40-70 at recruitment, with primary care records (clinical codes and prescription data) available for nearly half of participants. In the UK Biobank, all participants were in effect screened for diabetes, as their HbA1c levels were measured in the blood samples collected from them at recruitment, but results were not reported back to them or their healthcare professionals. This is perfectly normal, since volunteers consenting to take part in the UK Biobank project consent that they will not receive feedback of results.

The authors analysed how many additional people with diabetes can be identified by population screening using HbA1c, and how much screening would reduce the time to receive a diagnosis of diabetes compared to present approaches.

The authors defined participants without a diagnosis of diabetes at recruitment as those who: a) did not self-report diabetes; and b) had no indications of diabetes in their primary care records prior to recruitment (clinical codes for diabetes, HbA1c measurements of 48 mmol/mol or higher, or prescriptions for glucose lowering medication).

Undiagnosed diabetes was defined as those with a UK Biobank HbA1c measurement of 48 mmol/mol or higher. For participants with undiagnosed diabetes, the authors then looked up the time that it took to actually receive a clinical diagnosis in their primary care records, defined as the first occurrence of any of: a diagnosis code for diabetes, HbA1c of 48 mmol/mol or higher, or a prescription for glucose lowering medication.

Of the 201,465 UK Biobank participants with primary care records available and an HbA1c measured at recruitment, and no prior diagnosis of diabetes, 2,022 (1.0%) had undiagnosed diabetes on screening by HbA1c.

Individuals with undiagnosed diabetes on screening were older (61 vs 58 years), more likely to have obesity (BMI 31.0 vs 26.6), and more frequently male (60% vs 45%) than those without diabetes. Statistical modelling showed these participants took on average 2.3 years following UK Biobank recruitment to be diagnosed with diabetes, and that 23% still had not been diagnosed at five years follow-up.

Dr Young concludes: "We identified that screening by HbA1c would have identified an extra 1.0% of a population aged 40-70 years as having undiagnosed diabetes. This screening diagnosis would have been approximately two years before a clinical diagnosis was made. 23% had still not received a diagnosis at five years. The identification of these patients for whom primary care records are available in UK Biobank gives us a unique opportunity to study the impact of this delay on the risk of developing complications in the future."

She adds: "While preliminary results suggest that delays in receiving a diagnosis for those with undiagnosed diabetes did not significantly impact diabetes-related complications in this group of people, further research is required to ascertain whether screening for diabetes in this age group would reduce diabetes-related complications."

The research is funded by Professor Andrew Hattersley's Novo Nordisk Foundation Diabetes Prize for Excellence.

Credit: 
Diabetologia

Male baboons with female friends live longer

image: A 35-year study of more than 540 wild baboons in Kenya links strong social bonds to better chances of survival.

Image: 
Photo by Susan Alberts, Duke University

DURHAM, N.C. -- Close bonds with the opposite sex can have non-romantic benefits. And not just for people, but for our primate cousins, too.

Drawing on 35 years of data, a new study of more than 540 baboons in Amboseli National Park in Kenya finds that male baboons that have close female friends have higher rates of survival than those who don't.

Researchers have often assumed that when a male is friendlier to certain females, it's for the reproductive perks: to better protect his offspring, or to boost his chances of mating with her. But the new study points to an additional potential benefit: female friends may help him live a longer life.

The team's findings will appear Sept. 21 in a special issue of the journal Philosophical Transactions of the Royal Society B.

It's well known that people who have close friendships are more likely to live a long life than those who don't. In fact, human studies show that making and keeping friends can be as important for longevity as losing weight and getting exercise.

In the last decade, similar patterns have been found in animals ranging from monkeys and horses to dolphins and killer whales. However most of this research has focused on females, whereas males are more of a mystery. The reason is that, in most social mammals, females typically spend their entire lives in the same group, while males come and go, leaving researchers with only a partial snapshot of their lives.

"It means there are lots of gaps in our understanding of male social life," said senior author Susan Alberts, chair of the evolutionary anthropology department at Duke University.

Using statistical techniques to infer mortality risk at each age from sparse data, Alberts and colleagues looked at whether the link between survival and friendship was the same for male and female baboons.

Since 1971, researchers have followed individual baboons in southern Kenya on a near-daily basis, noting who they socialized with and how they fared over their lifetimes as part of the Amboseli Baboon Research Project.

Baboon besties don't catch up for coffee or bare their souls over beers. But they do spend time together grooming -- a give-and-take that involves sitting close together and stroking and picking through each other's fur, looking for ticks and other parasites. "It's a baboon's way of bonding and relieving stress, as well as providing some help with hygiene," Alberts said.

Males spend very little time grooming each other, but they do groom with females, and not just when the females are fertile.

Analyzing data for 277 males and 265 females, the team estimated the 'strength' of the bonds in each baboon's inner circle by measuring how often they spent time grooming with their closest friends.

The researchers showed for the first time in a wild primate that, not surprisingly, both sexes benefit from having strong social ties. Just like humans, "baboon males live longer lives if they're socially connected," Alberts said.

Males that maintained strong female friendships were 28% more likely to make it to their next birthday than their socially isolated counterparts.

Indeed, the team found that the flip side of the friendship coin, social isolation, can be a bigger threat to male survival than the stress and dangers of fighting their way up the pecking order.

Alberts says more work needs to be done to confirm that the link in baboons is in fact a causal one, and if so, to figure out exactly how the bonds of friendship affect physiology to lengthen their lifespans.

But the researchers say their work on baboon social behavior suggests that the power of friendship may have deep evolutionary roots in the primate family tree.

"How do primate friendships get 'under the skin' to lengthen life?" Alberts said. "We still don't know; it's one of the most wonderful black boxes in my life."

Credit: 
Duke University

Your cells look young for their age, compared to a chimp's

DURHAM , N.C. -- Many humans live to see their 70s and 80s, some even reach 100 years old. But life is much shorter for our closest animal relatives. Chimpanzees, for example, rarely make it past age 50, despite sharing almost 99% of our genetic code.

While advances in medicine and nutrition in the last 200 years have added years to human lifespans, a new study suggests there could be a more ancient explanation why humans are the long-lived primate.

Part of the secret to human longevity, researchers say, may lie in chemical changes along the DNA within our cells that slowed the rate of human aging in the 7 to 8 million years since our ancestors went their separate ways from chimps.

The findings will appear Sept. 21 in the journal Philosophical Transactions of the Royal Society B.

In the last decade, researchers have found that chemical marks on the human genome -- modifications that can affect gene activity without altering the underlying DNA sequence -- actually change as we age.

Studies have shown that certain sites along our DNA gain or lose chemical tags called methyl groups in a way that marks time, like a metronome. The changes are so consistent that they can be used as an "aging clock" to tell a person's age to within less than four years.

The new study, led by researchers at Duke University and George Washington University, marks the first time such age-related changes have been analyzed in chimpanzees, said lead author Elaine Guevara, an assistant research professor of evolutionary anthropology at Duke.

Guevara and colleagues analyzed some 850,000 of these sites in blood from 83 chimpanzees aged 1 to 59.

Sure enough, they found that aging leaves its mark on the chimpanzee genome, just as it does in humans. More than 65,000 of the DNA sites the scientists scrutinized changed in a clock-like way across the lifespan, with some gaining methylation and others losing it.

"A lot of their genome shows an age-related pattern," Guevara said.

The pattern was so reliable that the researchers were able to use DNA methylation levels to tell a chimpanzee's age to within 2.5 years, which is much more accurate than current methods for estimating a wild animal's age by the amount of wear on their molars.

When the researchers compared the rates of change they found in chimps with published data for humans, the epigenetic aging clock ticked faster for chimpanzees.

It's unknown whether these changes merely track the aging process or actively contribute to it, Guevara says.

But the researchers hope such work could eventually offer clues to the gene regulatory mechanisms behind the physical and cognitive decline that often accompanies aging,
and lead to new ways to fight aging-related diseases.

Credit: 
Duke University

UC study sheds light on cancer treatment, COVID-19

image: Trisha Wise-Draper, MD, PhD, associate professor of medicine in the Division of Hematology Oncology at the UC College of Medicine and lead author.

Image: 
Colleen Kelley/UC Creative + Brand

University of Cincinnati researchers have found that certain treatments for cancer may increase the chance of death if they contract COVID-19.

These findings from a multicenter study, presented at the European Society for Medical Oncology Virtual Congress 2020, shed light on ways standard anti-cancer treatments may impact outcomes for patients with both cancer and the coronavirus.

"Patients with cancer are susceptible to infection from COVID-19 and subsequent complications," says Trisha Wise-Draper, MD, associate professor of medicine in the Division of Hematology Oncology at the UC College of Medicine and lead author. "They experience higher rates of hospitalization, up to 40%, severe respiratory illness and death. Treatment for cancer, within four weeks of [the diagnosis of] COVID-19, was suggested to be associated with higher rates of complications, but less is known about treatment before or after that time frame.

"In a previous study from the COVID-19 and Cancer Consortium, with a smaller group of patients, we found that several factors increased the chance of death including age, sex, history of smoking and other health conditions, including active cancer. However, recent cancer treatment was not associated with poor outcomes in the smaller cohort. Now, we're investigating the correlation between timing of anti-cancer treatment and COVID-19 related complications as well as death in 30 days of a larger number of patients -- over 3,000."

"Of the 3,600 patients analyzed from 122 institutions across the country, we found that 30-day mortality was highest among cancer patients treated one to three months prior to COVID-19 diagnosis and was highest for those treated with a chemotherapy/immunotherapy combination," continues Wise-Draper, a UC Health oncologist and member of the UC Cancer Center. "Death was especially high in those receiving anti-CD20 monoclonal antibodies, which are normally used to deplete abnormal B cells common for certain lymphomas, one to three months prior to COVID-19 infection - a time period for which significant B-cell depletion develops."

She adds that death was higher for those undergoing active cancer treatment, except for endocrine therapy, when compared to patients untreated within a year prior to COVID-19 diagnosis.

"Any way you slice it, this is not good news for patients who are fighting cancer," she says. "Targeted therapies, especially those causing immune cell depletion, used one to three months before [the diagnosis of] COVID-19, are associated with very high mortality, up to 50%. Also, death from any condition or reason in patients with cancer is higher than the general population, including those who have been in remission and have not received treatment in the last year.

"We previously reported that immunotherapy was safe for use in patients with cancer and COVID-19, but this reveals more about anti-cancer treatments for patients, showing that immunotherapy combinations and immune-depleting drugs, but not immunotherapy alone, may lead to worse outcomes. More research is needed on this topic as we continue to investigate the effect of the pandemic on this group of patients."

Credit: 
University of Cincinnati

Ancient human footprints in Saudi Arabia give glimpse of Arabian ecology 120000 years ago

image: Researchers surveying the Alathar lake, situated within an interdunal depression in the western Nefud Desert, Saudi Arabia

Image: 
Palaeodeserts Project

Situated between Africa and Eurasia, the Arabian Peninsula is an important yet understudied region for understanding human evolution across the continents. Recent research highlighting the role of the Arabian Peninsula in human prehistory shows that humans repeatedly dispersed into the peninsula's interior at times when its harsh deserts were transformed into lush grasslands. However, the nature and timing of these dispersals have remained elusive, due to a scarcity of datable material and poor-resolution paleoecological data associated with evidence for humans.

In a new study published in Science Advances, researchers from the Max Planck Institutes for Chemical Ecology (MPI-CE) and the Science of Human History (MPI-SHH) in Jena, Germany and Royal Holloway University of London, UK, together with a team of international partners, describe a large assemblage of fossilized footprints discovered in an ancient lake deposit in Saudi Arabia's Nefud Desert. The footprints, dated to roughly 120 thousand-years-ago, include those of humans, elephants and horses, among other animals. These findings represent the earliest dated evidence for human movements into this part of the world, contemporary with well-known human dispersals from Africa to the Levant. In addition, it appears that the movements and landscape use patterns of humans and large mammals were tightly linked, perhaps in response to dry conditions and diminishing water supplies.

A Green Arabia in Human Prehistory

Because the Arabian Peninsula is characterized by large, hyper-arid deserts inhospitable to early humans and the animals they relied on, Arabia has received considerably less attention than Africa or Eurasia, neighboring regions that are vital to understanding human prehistory. However, research over the last decade has shown that this was not always the case, and it is now well-understood that conditions in Arabia have fluctuated significantly over the past million years.

"At certain times in the past, the deserts that dominate the interior of the peninsula transformed into expansive grasslands with permanent freshwater lakes and rivers," explains Richard Clark-Wilson of Royal Holloway, one of the lead authors of the study. "It was during these periods of climatic upturn that human and animal populations dispersed into the interior, as shown by the archaeological and fossil record."

Footprints as a High-Resolution Proxy

The footprints described in the new study were discovered during a recent survey of the Nefud Desert in Saudi Arabia. At an ancient lake deposit dubbed 'Alathar' (meaning "the trace" in Arabic) by the team, hundreds of human and animal footprints were discovered embedded in the surface, having been exposed following the erosion of overlying sediments.

"We immediately realized the potential of these findings," says Mathew Stewart of MPI-CE, one of the study's lead authors. "Footprints are a unique form of fossil evidence in that they provide snapshots in time, typically representing a few hours or days, a resolution we tend not get from other records."

Researchers were able to identify a number of animals from the footprints, including elephants, horses, and camels. The presence of elephants was particularly notable, as these large animals appear to have gone locally extinct in the Levant by around 400 thousand-years-ago.

"The presence of large animals such as elephants and hippos, together with open grasslands and large water resources, may have made northern Arabia a particularly attractive place to humans moving between Africa and Eurasia," says Michael Petraglia of MPI-SHH, who has been conducting research in the region for over a decade.

The dense concentration of footprints and evidence from the lake sediments suggests that animals may have been congregating around the lake in response to dry conditions and diminishing water supplies. Humans, too, may have been utilizing the lake for water and the surrounding area for foraging.

"We know people visited the lake, but the lack of stone tools or evidence of the use of animal carcasses suggests that their visit to the lake was only brief," says Stewart. Human movements and landscape use patterns, therefore, may have been closely linked to the large animals they shared the area with.

Early Human Dispersals into Arabia

The age of the footprints is of particular interest. They date to a period known as the last interglacial, a time of relatively humid conditions across the region and an important moment in human prehistory. Environmental changes during the last interglacial would have allowed humans and animals to disperse across otherwise desert regions, which normally acted as major barriers to dispersal during the less humid periods. Fossil and archaeological records indicate that these conditions also facilitated human dispersal from Africa into the Levant.

"It is only after the last interglacial with the return of cooler conditions that we have definitive evidence for Neanderthals moving into the region," says Stewart. "The footprints, therefore, most likely represent humans, or Homo sapiens."

These findings suggest that human movements beyond Africa during the last interglacial extended into northern Arabia, highlighting the importance of Arabia for the study of human prehistory.

Credit: 
Max Planck Institute of Geoanthropology

Private health insurers paid hospitals 247% of what medicare would

Prices paid to hospitals nationally during 2018 by privately insured patients averaged 247% of what Medicare would have paid, with wide variation in prices among states, according to a new RAND Corporation study.

Some states (Arkansas, Michigan and Rhode Island) had relative prices under 200% of Medicare, while other states (Florida, Tennessee, Alaska, West Virginia and South Carolina) had relative prices that were above 325% of Medicare.

The study notes a steady increase in hospital prices, rising to the 2018 average level from an average of 224% of Medicare costs in 2016 and 230% of Medicare costs in 2017.

The analysis, which includes information from more than half of the nation's community hospitals, is a broad-based study of prices paid by private health plans to hospitals. A study from RAND last year looked at similar metrics from hospitals in 25 states.

"This analysis provides the most-detailed picture ever of what privately insured individuals pay for hospital-based care relative to what the government pays for people insured through Medicare," said Christopher Whaley, the study's lead author and a policy researcher at RAND, a nonprofit research organization. "Especially during the COVID-19 pandemic, employers need transparent information on the prices that they and their employees are paying for health care services."

If employers and health plans participating in the study had paid hospitals using Medicare's payment formulas, total payments over the 2016-2018 period would have been reduced by $19.7 billion, a potential savings of 58%.

"The rising gap between public and private hospital prices is a cause for concern and raises questions about the efficiency of the employer market," said Katherine Hempstead, senior policy adviser at the Robert Wood Johnson Foundation, which sponsored the project. "The goal of this work is to arm employers with data so they can negotiate more effectively. Curbing excessive spending on employer health insurance is in the public interest."

Spending on hospital services accounts for approximately 44% of total personal health care spending for the privately insured, and hospital price increases are key drivers of recent growth in per capita spending among the privately insured.

While recent price transparency initiatives have increased information about procedure-level prices available to patients, employers (who provide most private insurance) typically do not have usable information about the prices negotiated with hospitals on their behalf.

The RAND study is based on information from 49 states and Washington, D.C. (Maryland was excluded because it long has had a system in place where the privately insured and Medicare recipients pay the same price). Data sources include $33.8 billion in spending from 3,112 hospitals nationally, including approximately 750,000 claims for inpatient hospital stays and 40.2 million claims for outpatient services.

Researchers analyzed health care claims obtained from self-insured employers, six state all-payer claims databases and records from health insurance plans that chose to participate. For each private claim, researchers re-priced the service using Medicare's grouping and pricing formulas. Medicare is the federal insurance plan for Americans aged 65 and older.

Other findings from the study include an observation that hospital costs within individual states and hospital systems vary widely. Researchers also examined whether the observed differences in prices could be explained by differences in the quality of care. However, they did not find a strong relationship between prices and two widely-recognized metrics of quality and patient safety, or that variation in hospital prices is explained by differences in Medicare and Medicaid patient populations.

A large portion of private health insurance contracting for hospitals is done on a discounted-charge basis where the insurer agrees to pay a percentage of billed charges. By contrast, Medicare issues a fee schedule that determines the price it will pay for each service, with adjustments for inflation, hospital location, the severity of a patient's illness and other factors.

RAND researchers suggest that private insurers may want to move away from discounted-charge contracting for hospital services and shift to contracting based on a percent of Medicare or another similar fixed-price arrangement, often called reference-based pricing.

In both Montana and Oregon, the health plan for state employees has transitioned to a multiple-of-Medicare contracting arrangement. Employers in Indiana recently pushed to implement a reference-based pricing approach for outpatient services.

"In the case of specific high-priced hospitals, there may be justification for the unusually high prices, such as offering specialized services or a well-deserved reputation for higher-quality care," Whaley said. "However, if two hospitals have similar quality, then any difference in prices may be harder to justify. Employers can use the information in this report to help inform these comparisons and to make judgments about appropriate pricing."

A detailed list of both relative and standardized prices for each facility, identified by name and Medicare Provider Number, is included in the report's supplemental material. The supplemental material also includes CMS Hospital Compare star ratings for those hospital facilities.

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RAND Corporation

Human genetics: A look in the mirror

Who are we? Where did we come from? How did we get here? Throughout the ages, humans have sought answers to these questions, pursuing wisdom through religion, philosophy, and eventually science. Evolutionary analyses published by Genome Biology and Evolution (GBE) allow us to peer into the mirror and better understand ourselves as a species, bringing us closer than ever to uncovering the answers to these long-held questions. GBE's latest virtual issue on human genetics highlights some of the most exciting research published in the journal within the last year and a half, demonstrating the wide variety of evolutionary approaches to this avenue of research as well as a number of fascinating insights into our own biology.

Taking over a decade to complete, the original Human Genome Project cost nearly $3 billion and involved the collective effort of hundreds of scientists. Since then, advances in sequencing technology have resulted in an explosion in human genetics and genomics research, with an estimated one million human genomes sequenced to date. While this wealth of data has the potential to answer some of our most fundamental questions, unlocking its mysteries has necessitated the invention of new analytic and computational methods and the integration of techniques and ideas from diverse biological sciences, including physiology, anatomy, medicine, population genetics, bioinformatics, and computational, molecular, and evolutionary biology.

A key area of investigation involves identifying ways in which humans differ from other primates--in other words, what makes us human? Several studies published over the last 18 months suggest that part of the answer may be found in transcriptional regulation and changes in gene expression. Edsall et al. (2019) evaluated differences in chromatin accessibility, which impacts access of the transcriptional machinery to the DNA, across five primates including humans. They found high levels of differentiation across species, as well as classes of sites that differed based on selection, genomic location, and cell type specificity. More specifically, Swain-Lenz et al. (2019) found that differences in chromatin accessibility near genes involved in lipid metabolism may provide a mechanistic explanation for the higher levels of body fat observed in humans compared to other primates. Arakawa et al. (2019) showed that human-specific increases in the transcription of four structural protein genes may give rise to morphological features specific to human skin, including increased thickness and strength compared to the skin of other primates. Finally, a catalog of proteins involved in transcriptional regulation by Perdomo-Sabogal and Nowick (2019) showed that certain types of transcription factors are associated with genes under positive selection, including those associated with schizophrenia, eye development, and fertility in humans.

Another area of interest is the role of mutation in shaping the human genome and our evolutionary history. For example, there has been considerable debate over how much of the human genome is subject to natural selection. It has been argued that this fraction cannot be too large, or else humans would suffer a loss of fitness due to the number of deleterious mutations. However, Galeota-Sprung et al. (2020) countered this argument by showing that the mutational load would be tolerable even if much of the human genome were subject to selection. Additional analyses by Castellano et al. (2020) revealed how the recombination rate, gene density, and mutation rate interact to shape patterns of DNA diversity across humans and other closely related homininae. A study by Prendergast et al. (2019) further uncovered unique biases in mutations that occur at adjacent nucleotide sites in humans, suggesting the existence of distinct evolutionary forces acting on such sites and identifying differences in these forces across human populations.

A particularly fascinating topic in this field is concerned with investigating genetic differences between human populations and their association with the natural history of these groups. For example, Harris et al. (2019) found that the ancestors of Native Americans carried the ancestral, rather than the derived, version of an ancient polymorphism that predates the split with Neanderthals. This polymorphism encompasses the fatty acid desaturase genes, and thus those with Native American ancestry may be at risk for low levels of nutrients derived from dietary omega-3 and omega-6 fatty acids. Jonnalagadda et al. (2019) identified a number of alleles associated with iris color and skin pigmentation in South Asians, while Vicuña et al. (2019) discovered genetic variants that may have helped the Andean Native American ancestors of people living in the Atacama Desert in northern Chile to adapt to high arsenic levels in the water. Analysis of another desert-dwelling population by Eaaswarkhanth et al. (2020) showed evidence for positive selection of a genomic region encompassing the TNKS gene in Kuwaiti individuals. Because this gene influences metabolic traits and hypertension risk, selection for this haplotype may have provided an advantage to Kuwaiti ancestors living in the desert of the Arabian Peninsula but has health implications for their modern day descendants.

Indeed, as revealed by these studies, one of the greatest potential benefits of this line of inquiry is the elucidation of new knowledge that informs our understanding of human health and disease. Reher et al. (2019) found that genes of the major histocompatibility complex, which helps the immune system recognize foreign substances, retain higher levels of diversity than other genes. This was true in both archaic and modern humans, even though archaic humans and Neanderthals had reduced levels of genetic diversity compared to modern humans. Lin and Gokcumen (2019) characterized fine-scale structural variation in the human genome and revealed hotspots that were associated with both adaptive and biomedically relevant variants. For example, they identified hotspots associated with alpha and beta hemoglobin gene clusters as well as idiopathic short stature. Finally, a study by Liu et al. (2019) of samples taken from within a single tumor of a patient with hepatocellular carcinoma showed that the mitochondrial genome was evolving neutrally, providing evidence that refutes the hypothesis that selection acts on mitochondrial DNA to promote tumor development.

Together, this selection of manuscripts highlights some of the latest findings and new approaches in the study of human genetics, a field that promises to help define who we are as a species and to reveal mysteries of human migration and adaptation that may otherwise have been lost to human history.

Credit: 
SMBE Journals (Molecular Biology and Evolution and Genome Biology and Evolution)

SUTD researchers develop simple method to 3D print milk products

image: A - D: 3D printed milk structures of couch, fortress, wheel, and cloverleaf, respectively.
E: 3D printed cone containing liquid chocolate syrup as an internal filling.
F: 3D printed cube with four compartments containing liquid blueberry syrup, liquid chocolate syrup, milk cream, maple syrup as internal fillings.

Image: 
SUTD

Researchers from the Singapore University of Technology and Design (SUTD) developed a method to perform direct ink writing (DIW) 3D printing of milk-based products at room temperature, while maintaining its temperature sensitive nutrients.

3D printing of food has been achieved by different printing methods, including the widely used selective laser sintering (SLS) and hot-melt extrusion methods. However, these methods are not always compatible with temperature-sensitive nutrients found in certain types of food. For instance, milk is rich in both calcium and protein, but as these nutrients are temperature sensitive, milk is unsuitable for 3D printing using the aforementioned printing methods which require high temperature. While the cold-extrusion is a viable alternative, it often requires rheology modifiers or additives to stabilize printed structures. Optimizing these additives is a complex and judicious task.

To tackle these limitations, the research team from SUTD's Soft Fluidics Lab changed the rheological properties of the printing ink and demonstrated DIW 3D printing of milk (refer to image) by cold-extrusion with a single milk product - powdered milk. The team found that the concentration of milk powder allowed for the simple formulation of 3D-printable milk inks using water to control the rheology. Extensive characterizations of the formulated milk ink were also conducted to analyse their rheological properties and ensure optimal printability.

"This novel yet simple method can be used in formulating various nutritious foods including those served to patients in hospitals for their special dietary needs," said the lead author and Ph.D. candidate from SUTD, Mr Lee Cheng Pau.

"Cold-extrusion does not compromise heat-sensitive nutrients and yet offers vast potential in 3D printing of aesthetically pleasing, nutritionally controlled foods customized for individual requirements," added Assistant Professor Michinao Hashimoto, the principal investigator of the study.

This research was published by RSC Advances, a leading journal that encourages high quality, well conducted studies which contribute to the advancement of chemistry and its applications. Rahul Karyappa, a research fellow at SUTD, also participated in this project.

Credit: 
Singapore University of Technology and Design