Category: Science

Human Brain Protein Associated with Autism

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The human dopamine transporter protein is missing a single amino acid.

Credit: UAB
Aurelio Galli
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A mutant gene that encodes a brain protein in a child with autism has been placed into the brains of fruit flies. Fruit flies hosting that gene produce the variant human brain protein and show abnormal behaviors of fear, repetitive activity and altered social interaction, reminiscent of autism impairments.

The genetic variant was found in the Simon Simplex Collection, which has collected genetic samples from 2,600 simplex families with autism spectrum disorder, or ASD. The brain protein is the dopamine transporter, or DAT, whose job is to pump the neurotransmitter dopamine back into nerve cells once the neurotransmitter has been released. The mutant protein is missing a single amino acid.

A study of this variant DAT — from its impaired molecular mechanism to its effect on fruit fly behavior — has been published in Proceedings of the National Academy of Sciences by co-corresponding authors Aurelio Galli, Ph.D., and Eric Gouaux, Ph.D.

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Galli is professor in the Department of Surgery at the University of Alabama at Birmingham, and Gouaux is professor in the Vollum Institute at the Oregon Health & Science University and Howard Hughes Medical Institute.

Researchers found that fruit flies with the human variant DAT, or vDAT, are hyperactive. They had increased locomotor activity in both day and night, as compared with normal fruit flies. They also showed repetitive behavior — the vDAT fruit flies groomed themselves 23 percent of the time, versus 6 percent of the time for normal fruit flies. Repetitive behavior like self-grooming has been observed in animal models of neuropsychiatric disorders.

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The vDAT fruit flies were also more fearful than normal fruit flies. In response to the sound of a predatory wasp, normal flies froze for about 150 milliseconds, and then they fled, as shown by a distinctive and rapid increase in average velocity that was captured by a 1,000-frame per second camera. In contrast, the vDAT fruit flies froze at the sound of the predator and showed little signs of fleeing during 600 milliseconds.

The vDAT fruit flies had impaired social interaction, as measured by changes in grouping. Many animal populations form temporary or permanent groups, such as flocks, schools or herds, that aid survival in the face of predators. Fleeing, in response to a threat, is an escape behavior where the flock size may compress or expand. The researchers found that normal fruit flies expanded their flock size in response to a threat — the sound of the predator wasp. The vDAT fruit flies, in contrast, compressed their flock size.

Besides the fruit fly behavior, the PNAS study is a comprehensive multidisciplinary approach that gets at some root causes of autism to a degree of detail that could make potential therapeutic treatments more realizable in the future.

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Besides vDAT, the labs of Galli and Heinrich Matthies, Ph.D., assistant professor in the UAB Department of Surgery, have identified several other mutations in the human DAT gene that affect DAT function in individuals with ASD. For these people, disruption of dopamine transport appears to be a risk factor that promotes complications associated with ASD.

“The experimental paradigms we describe here,” Galli said, “provide a framework for molecular and behavioral analysis of novel DAT variants that are discovered by genetic analyses of individuals with ASD or related neuropsychiatric illness, as well as other disease-linked mutants that are emerging from precision medicine initiatives.”

Galli and Gouaux’s PNAS research went from human genetics to a basic animal model with simplified behavior, as detected by a new high-powered analysis. It investigated the underlying molecular mechanisms and basic biological functions with ever greater resolution, through studies at the cell level and all the way down to a bacterial system. Each added system was more fundamental with regard to biological complexity and phylogenetic level.

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Details of vDAT structure and function
Besides altered fly behavior caused by the mutant protein, the PNAS study probed the molecular structure and function of vDAT using mutation of a related transporter protein from a thermophilic bacterium as a model. Experiments included X-ray crystallography, spin resonance spectroscopy, molecular modeling, cell culture studies and electrophysiology studies of fruit fly brains expressing the mutant.

The researchers showed that vDAT cells have impaired dopamine transport and impaired DAT-mediated electrical currents. Also, expression of the human vDAT reduced dopamine uptake in the whole brain of fruit flies. These findings support the idea that human DAT dysfunction in ASD stems from specific and yet distinct mechanisms.

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To probe the mechanism of impaired transporter function, researchers used the related bacterial transporter as a model. They removed the single amino acid from the related bacterial transporter that correlates with the single amino acid missing in vDAT. Like DAT, the bacterial transporter protein embeds across the cell membrane and has domains called the extracellular gate and the intracellular gate to receive and release the molecule being transported from outside the cell to inside.

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Deletion of the single amino acid altered conformation of the bacterial protein and appeared to lock its extracellular gate, apparently through disrupted hydrogen bonds between amino acids of the protein that abnormally left the intracellular gate in a conformation called “half-open and inward facing.” Molecular dynamics simulation of vDAT showed similar conformational changes and altered hydrogen bonding.

Co-authors with Galli, Gouaux and Matthies for the paper, “Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in SLC6A3,” are Nicholas G. Campbell, Aparna Shekar, Dungeng Peng, Amanda M. Duran, Brian O’Grady, Ramnarayan Ramachandran, James S. Sutcliffe, Jens Meiler, Leon M. Bellan and Hassane S. Mchaourab, Vanderbilt University; Jenny I. Aguilar and Kevin Erreger, Department of Surgery, UAB School of Medicine; Vikas Navratna and Dongxue Yang, Vollum Institute, Oregon Health and Science University; Alexander N. Morley, Harald H. Sitte and Thomas Stockner, Medical University of Vienna, Austria; and Greta Galli, University School of Nashville, Tennessee.

Mchaourab is co-senior author with Galli, and Greta Galli is daughter of Aurelio Galli.

Support for this work came from National Institutes of Health grants MH070039, GM080403, HL122010, DA35263, DA38058 and NS007491-14.

HPV Vaccine: 7 Myths and Facts You Need to Know

Nuvance Health physician dispels common misconceptions about the HPV vaccine and discusses its role in protecting against HPV-related diseases

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January is Cervical Health Awareness Month

By Dr. Linus Chuang, Chair of Obstetrics and Gynecology, Nuvance Health

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Summary:

  • A vaccine is available to protect against human papillomavirus (HPV). HPV is the most common sexually transmitted infection and can cause diseases such as genital warts and cancer.
  • The HPV vaccine now protects against nine strains of HPV. Research shows that the HPV vaccine is safe and effective.
  • The HPV vaccine is approved for men and women between the ages of 9 to 45. The HPV vaccine can protect adults from HPV-related diseases, however it provides the most protection when it is given in childhood before someone becomes sexually active.
  • Parents should talk with their child’s pediatrician about the HPV vaccine. Adult men should ask their primary care provider about the HPV vaccine, and adult women should speak with their gynecologist.
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In 2006, the U.S. Food and Drug Administration (FDA) approved Gardasil, a vaccine to prevent diseases such as cancer and genital warts that are caused by human papillomavirus (HPV). Within the last five years, improvements have been made to the HPV vaccine and the recommended age range for administration has been expanded, resulting in more robust HPV protection being available to more people.

Although the HPV vaccine has proven to be highly effective at preventing HPV-related diseases and cancers, misconceptions still exist about how it works, who should receive it, and whether it is safe. Here are seven myths about HPV and the HPV vaccine and also the facts you need to know.

Myth #1: I/my child won’t contract HPV.
Fact: HPV is the most common sexually transmitted infection.

Most sexually active people will contract HPV. The U.S. Centers for Disease Control and Prevention (CDC) estimates that nearly 80 million people — or 1 in 4 Americans — are infected with HPV. The CDC further estimates that about 14 million people, including teens, will contract a new HPV infection each year.

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Myth #2: Having HPV doesn’t mean I/my child will get cancer.
Fact: Having HPV increases cancer risk — and HPV-related cancers are on the rise.

According to the CDC, more than 43,000 people developed HPV-associated cancer in 2015, up from 30,000 people in 1999. The HPV vaccine can prevent most types of HPV-related cancers, including anal, cervical, penile, throat, and vaginal cancers.

Myth #3: The HPV vaccine is only for women.
Fact: Men and women should get the HPV vaccine.

HPV affects both men and women. HPV can cause genital warts and anal and oral cancers in both men and women. It can also cause cervical or vaginal cancers in women and penile cancers in men. Because HPV often does not cause symptoms right away and many people are unaware that they have it, it can easily and unknowingly be transmitted to a sex partner.

Myth #4: The HPV vaccine isn’t effective.
Fact: The newest vaccine is effective against nine strains of HPV.

When Gardasil, the original HPV vaccine, was first approved by the FDA in 2006, it only protected against four types of HPV. In 2014, the FDA approved a new vaccine called Gardasil 9 that protects against the same four types of HPV, plus an additional five types.

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Research also shows that the HPV vaccine provided nearly 100 percent protection against persistent cervical infections with HPV types 16 and 18, plus the pre-cancers caused by those persistent infections.

Myth #5: The HPV vaccine is only for children and young adults.
Fact: Children and adults ages 9 to 45 can now get the HPV vaccine.

Gardasil and Gardasil 9 were originally approved for boys and girls ages 9 to 26. In 2018, the FDA expanded the age range for Gardasil 9 to include men and women ages 27 to 45. This expanded approval provides more opportunity to prevent HPV-related diseases and cancers in a broader age range.

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Although the HPV vaccine is most effective when it is given before someone becomes sexually active — ideally in childhood — there is now data that suggests that the vaccine also can benefit adults. Statistics show that many sexually active adults have been exposed to some types of HPV, but most have not been exposed to all nine types covered by the newest vaccine. Even if an adult already has HPV, the vaccine may still help to reduce the risk of developing HPV-related diseases.

Myth #6: The HPV vaccine isn’t safe.
Fact: Extensive testing and research show that the HPV vaccine is safe.

The FDA closely monitors the safety and effectiveness of all vaccines before and after approval, and research shows that the HPV vaccine is safe. However, like any other vaccine or medication, some people may experience mild reactions or side effects to the HPV vaccine, such as fever, dizziness, fatigue, or pain, redness, or swelling at the injection site.

Myth #7: The HPV vaccine encourages sexual promiscuity.
Fact: Research has shown no link between being vaccinated for HPV and an increase in sexual activity.

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Recent research that included 500,000 individuals found that there was no increase in sexual activity after HPV vaccination. Additionally, the research showed that participants who received the HPV vaccine actually engaged in safer sexual practices than unvaccinated participants.

The bottom line: The HPV vaccine is a safe and effective way to reduce your risk (or your child’s risk) of developing an HPV-related health problem. Parents should ask their child’s pediatrician about the HPV vaccine — ideally before the child becomes sexually active. Adult men should speak with their primary care provider about the HPV vaccine, and adult women should talk with their gynecologist.

About Dr. Linus Chuang

Dr. Linus Chuang is the chair of OB/GYN at Nuvance Health’s Danbury Hospital and Norwalk Hospital. He is a global gynecologic oncology expert and the American Society of Clinical Oncology’s (ASCO) International Affairs Committee Chair. Dr. Chuang has been recognized as an American Cancer Society (ACS) HPV Champion. He is passionate about educating people about the benefits of HPV vaccination and its role in preventing cancer and other HPV-related diseases.

How Healthy is Chicken Noodle Soup?

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You may remember a loved one making you a bowl of chicken noodle soup whenever you were feeling under the weather as a child. Just how healthy is this culinary cure-all?

Photo by HM Grand Central Hotel on Pexels.com
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“Studies have shown that a hearty bowl of chicken noodle soup may help clear nasal congestion and ease cold symptoms,” says BIDMC clinical dietitian Sandy Allonen, RD. “It’s all about the ingredients.”

So let’s break it down – what’s in your soup?

Broth

If you’re fighting a cold, your doctor will tell you it’s important to stay hydrated. “A clear broth is warm and soothing, making it a great source of hydration while you’re sick, especially if you have a sore throat,” Allonen says.

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Whether it’s vegetable or chicken broth – Allonen says the benefits are similar. “You may think added salt and other seasonings aren’t great for you, but in moderation, these spices can help combat the feeling of dull taste buds,” she says. “A loss of taste is common in a cold, but as with any flavor enhancer, salt is great for getting you to eat more.”

Allonen notes, however, that if your doctor has recommended you limit your sodium intake (whether this be for hypertension, kidney disease, congestive heart failure or another medical condition), then you will want to look for a broth that is low sodium or has no added salt.

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Chicken

Chicken is full of protein that helps support the immune system. It’s also a good source of vitamins and minerals, such as B vitamins, which boost immunity and help regulate digestion.

“Chicken is also high in tryptophan, which helps your body produce serotonin that can enhance your mood and give you the feeling of ‘comfort’ that helps make chicken noodle soup a true comfort food,” Allonen says.

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Noodles

The noodles in chicken noodle soup aren’t just for show. They’re packed with carbohydrates that help you feel full and satisfied.

“Carbs are the preferred source of energy for your body, so getting in a good dose through soup can help you feel less sluggish,” Allonen says.

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Vegetables

All those bits of carrot, celery, and onion commonly found in chicken noodle soup are a great source of vitamins C and K, as well as other antioxidants and minerals. “Not only does this help build a healthy immune system to fight off viruses, it also helps your body recover from illness more quickly,” Allonen says.

Vegetables like carrots are also high in beta-carotene, and can help reduce symptoms due to their anti-inflammatory properties.

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Steam

While steam isn’t an ingredient you’ve mixed in, it’s important to serve your soup warm. Hot steam that comes from your cup of soup can be helpful in reducing nasal congestion.

“Steam can open up airways, making it easier to breathe. It also has a mild anti-inflammatory effect that can help relax your muscles and soothe the discomforts of cold symptoms,” Allonen says.

While soup won’t cure your cold completely, it’s a delicious way to load up on nutrients and increase hydration. Make an appointment with your primary care physician if you’re feeling under the weather this winter.

Sugar changes the chemistry of your brain

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Anyone who has desperately searched their kitchen cabinets for a piece of forgotten chocolate knows that the desire for palatable food can be hard to control. But is it really addiction?

Photo by David Cassolato on Pexels.com

The idea of food addiction is a very controversial topic among scientists. Researchers from Aarhus University have delved into this topic and examined what happens in the brains of pigs when they drink sugar water. The conclusion is clear: sugar influences brain reward circuitry in ways similar to those observed when addictive drugs are consumed. The results have just been published in the journal Scientific Reports.

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“There is no doubt that sugar has several physiological effects, and there are many reasons why it is not healthy. But I have been in doubt of the effects sugar has on our brain and behaviour, I had hoped to be able to kill a myth. ” says Michael Winterdahl, Associate Professor at the Department of Clinical Medicine at Aarhus University and one of the main authors of the work.

The publication is based on experiments done using seven pigs receiving two liters of sugar water daily over a 12-day period. To map the consequences of the sugar intake, the researchers imaged the brains of the pigs at the beginning of the experiment, after the first day, and after the 12th day of sugar.

“After just 12 days of sugar intake, we could see major changes in the brain’s dopamine and opioid systems. In fact, the opioid system, which is that part of the brain’s chemistry that is associated with well-being and pleasure, was already activated after the very first intake,” says Winterdahl.

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When we experience something meaningful, the brain rewards us with a sense of enjoyment, happiness and well-being. It can happen as a result of natural stimuli, such as sex or socializing, or from learning something new. Both “natural” and “artificial” stimuli, like drugs, activate the brain’s reward system, where neurotransmitters like dopamine and opioids are released, Winterdahl explains.

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We chase the rush

“If sugar can change the brain’s reward system after only twelve days, as we saw in the case of the pigs, you can imagine that natural stimuli such as learning or social interaction are pushed into the background and replaced by sugar and/or other ‘artificial’ stimuli. We’re all looking for the rush from dopamine, and if something gives us a better or bigger kick, then that’s what we choose” explains the researcher.

When examining whether a substance like sugar is addictive, one typically studies the effects on the rodent brain. ¨It would, of course, be ideal if the studies could be done in humans themselves, but humans are hard to control and dopamine levels can be modulated by a number of different factors. They are influenced by what we eat, whether we play games on our phones or if we enter a new romantic relationship in the middle of the trial, with potential for great variation in the data. The pig is a good alternative because its brain is more complex than a rodent and gyrated like human and large enough for imaging deep brain structures using human brain scanners. The current study in minipigs introduced a well-controlled set-up with the only variable being the absence or presence of sugar in the diet.

Background for the results:

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  • The study involved imaging the pig brain before and after sugar intake.
  • Partners involved in the study: Michael Winterdahl, Ove Noer, Dariusz Orlowski, Anna C. Schacht, Steen Jakobsen, Aage K. O. Alstrup, Albert Gjedde and Anne M. Landau.
  • The study was financed by a grant from AUFF to Anne Landau.
  • The scientific article has been published in Scientific Reports and is freely available online: doi: https://doi.org/10.1038/s41598-019-53430-9

Higher rates of post-natal depression among autistic mothers

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Autistic mothers are more likely to report post-natal depression compared to non-autistic mothers, according to a new study of mothers of autistic children carried out by researchers at the University of Cambridge

Photo by Engin Akyurt on Pexels.com

A better understanding of the experiences of autistic mothers during pregnancy and the post-natal period is critical to improving wellbeing. The results are published in Molecular Autism.

The team recruited an advisory panel of autistic mothers with whom they co-developed an anonymous, online survey. After matching, this was completed by 355 autistic and 132 non-autistic mothers, each of whom had at least one autistic child.

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Sixty percent of autistic mothers in the study reported they had experienced post-natal depression. By comparison, only 12% of women in the general population experience post-natal depression. In addition, autistic mothers had more difficulties in multi-tasking, coping with domestic responsibilities, and creating social opportunities for their child.

The study also found that when autistic mothers disclosed their autism diagnosis to a professional, they were not believed the majority of the time. Autistic women felt misunderstood by professionals more frequently during pre- and post-natal appointments and found motherhood an isolating experience. Despite these challenges, autistic mothers reported they were able to act in the best interest of their child, putting their child’s needs first and seeking opportunities to boost their child’s self-confidence.

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Dr Alexa Pohl, who led the study, said: “Autistic mothers face unique challenges during the perinatal period and parenthood. Despite these challenges, an overwhelming majority of autistic mothers reported that parenting overall was a rewarding experience. This research highlights the need for increased awareness of the experiences of motherhood for autistic women and the need for more tailored support.”

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Professor Simon Baron-Cohen, Director of the Autism Research Centre at Cambridge, and part of the team, said: “This worryingly high number of autistic mothers who experience post-natal depression means we are failing them and their infants at a critical point in their lives. We now need more research into why the rates are so much higher, whether they are seeking help and not getting it, or if they are not seeking help and for what reasons. A new research priority is to develop autism-relevant screening tools and interventions for post-natal depression in these mothers.”

Monique Blakemore, an autistic advocate and member of the team, said: “This vital study was initiated by the autistic community, who collaborated as equal partners with researchers in the design, dissemination and interpretation of the survey. This is an excellent example of what can be achieved through such partnership.”

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The study was supported by the National Institute of Health Research (NIHR) Collaboration for Leadership in Applied Health Research and Care (CLAHRC), East of England, at Cambridgeshire and Peterborough NHS Foundation Trust, the Autism Research Trust, the MRC, the NIHR Cambridge Biomedical Research Centre, and Autistica.

Reference

A comparative study of autistic and nonautistic women’s experience of motherhood by Alexa Pohl, Sarah Crockford, Monique Blakemore, Carrie Allison and Simon Baron-Cohen. Molecular Autism. DOI: 10.1186/s13229-019-0304-2

Dinosaur Embryos

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Eggs Took 3 to 6 Months to Hatch

Research on the teeth of fossilized dinosaur embryos indicates that the eggs of non-avian dinosaurs took a long time to hatch–between about three and six months. The study, led by scientists at Florida State University, the American Museum of Natural History, and the University of Calgary, was published today in the Proceedings of the National Academy of Sciences and finds that contrary to previous assumptions, dinosaur incubation is more similar to that of typical reptiles than of birds. The work suggests that prolonged incubation may have affected dinosaurs’ ability to compete with more rapidly generating populations of birds, reptiles, and mammals following the mass extinction event that occurred 65 million years ago.

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Credit: © AMNH/M. Ellison
This is a photo of a hatchling Protoceratops andrewsi fossil from the Gobi Desert Ukhaa Tolgod, Mongolia.
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“We know very little about dinosaur embryology, yet it relates to so many aspects of development, life history, and evolution,” said study co-author Mark Norell, Macaulay Curator of Paleontology at the American Museum of Natural History. “But with the help of advanced tools like CT scanners and high-resolution microscopy, we’re making discoveries that we couldn’t have imagined 20 years ago. This work is a great example of how new technology and new ideas can be brought to old problems.”

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Because birds are living dinosaurs, scientists have long assumed that the duration of dinosaur incubation was similar to birds, whose eggs hatch within 11 to 85 days. The research team tested this theory by looking at the fossilized teeth of two extremely well-preserved ornithischian dinosaur embryos on each end of the size spectrum: Protoceratops–a pig-sized dinosaur found by Norell and colleagues in the Mongolian Gobi Desert, whose eggs were quite small at 194 grams, or a little less than half of a pound–and Hypacrosaurus, a very large duck-billed dinosaur found in Alberta, Canada, with eggs weighing more than 4 kilograms, or nearly 9 pounds. First, the researchers scanned the embryonic jaws of the two dinosaurs with computed tomography (CT) at the Museum’s Microscopy and Imaging Facility to visualize the forming dentitions. Then they used an advanced microscope to look for and analyze the pattern of “von Ebner” lines–growth lines that are present in the teeth of all animals, humans included. This study marks the first time that these growth lines have been identified in dinosaur embryos.

“These are the lines that are laid down when any animal’s teeth develops,” said lead author and Florida State University professor Gregory Erickson. “They’re kind of like tree rings, but they’re put down daily. And so we could literally count them to see how long each dinosaur had been developing.”

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Using this method, the scientists determined that the Protoceratops embryos were about three months old when they died and the Hypacrosaurus embryos were about six months old. This places non-avian dinosaur incubation more in line with that of their reptilian cousins, whose eggs typically take twice as long as bird eggs to hatch–weeks to many months. The work implies that birds likely evolved more rapid incubation rates after they branched off from the rest of the dinosaurs. The authors note that the results might be quite different if they were able to analyze a more “bird-like” dinosaur, like Velociraptor. But unfortunately, very few fossilized dinosaur embryos have been discovered.

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“A lot is known about growth in dinosaurs in their juvenile to adult years,” said co-author Darla Zelenitsky, from the University of Calgary. “Time within the egg is a crucial part of development with major biological ramifications, but is poorly understood because dinosaur embryos are rare.”

The study also has implications for dinosaur extinction. Prolonged incubation exposed non-avian dinosaur eggs and attending parents to predators, starvation, and environmental disruptions such as flooding. In addition, slower embryonic development might have put them at a disadvantage compared to other animals that survived the Cretaceous-Paleogene extinction event.

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Florida State University graduate student David Kay also is an author on this paper.

This work was funded, in part, by the U.S. National Science Foundation, grant # EAR 0959029, the Macaulay Family, and the Natural Sciences and Engineering Research Council of Canada, grant # 327513-09.

AMERICAN MUSEUM OF NATURAL HISTORY (AMNH.ORG)

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The American Museum of Natural History, founded in 1869, is one of the world’s preeminent scientific, educational, and cultural institutions. The Museum encompasses 45 permanent exhibition halls, including the Rose Center for Earth and Space and the Hayden Planetarium, as well as galleries for temporary exhibitions. It is home to the Theodore Roosevelt Memorial, New York State’s official memorial to its 33rd governor and the nation’s 26th president, and a tribute to Roosevelt’s enduring legacy of conservation. The Museum’s five active research divisions and three cross-disciplinary centers support approximately 200 scientists, whose work draws on a world-class permanent collection of more than 33 million specimens and artifacts, as well as specialized collections for frozen tissue and genomic and astrophysical data, and one of the largest natural history libraries in the world. Through its Richard Gilder Graduate School, it is the only American museum authorized to grant the Ph.D. degree and the Master of Arts in Teaching degree. Annual attendance has grown to approximately 5 million, and the Museum’s exhibitions and Space Shows can be seen in venues on five continents. The Museum’s website and collection of apps for mobile devices extend its collections, exhibitions, and educational programs to millions more beyond its walls. Visit amnh.org for more information.

The Columbus' cannibal claims

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Study puts the ‘Carib’ in ‘Caribbean,’ boosting credibility of Columbus’ cannibal claims

image from history.com

Christopher Columbus’ accounts of the Caribbean include harrowing descriptions of fierce raiders who abducted women and cannibalized men – stories long dismissed as myths.

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But a new study suggests Columbus may have been telling the truth.

Using the equivalent of facial recognition technology, researchers analyzed the skulls of early Caribbean inhabitants, uncovering relationships between people groups and upending longstanding hypotheses about how the islands were first colonized.

One surprising finding was that the Caribs, marauders from South America and rumored cannibals, invaded Jamaica, Hispaniola and the Bahamas, overturning half a century of assumptions that they never made it farther north than Guadeloupe.

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“I’ve spent years trying to prove Columbus wrong when he was right: There were Caribs in the northern Caribbean when he arrived,” said William Keegan, Florida Museum of Natural History curator of Caribbean archaeology. “We’re going to have to reinterpret everything we thought we knew.”

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Columbus had recounted how peaceful Arawaks in modern-day Bahamas were terrorized by pillagers he mistakenly described as “Caniba,” the Asiatic subjects of the Grand Khan. His Spanish successors corrected the name to “Caribe” a few decades later, but the similar-sounding names led most archaeologists to chalk up the references to a mix-up: How could Caribs have been in the Bahamas when their closest outpost was nearly 1,000 miles to the south?

Credit: Ann Ross/North Carolina State University
Researchers analyzed the skulls of early Caribbean inhabitants, using 3D facial “landmarks” as a genetic proxy for determining how closely people groups were related to one another.

But skulls reveal the Carib presence in the Caribbean was far more prominent than previously thought, giving credence to Columbus’ claims.

Face to face with the Caribbean’s earliest inhabitants

Previous studies relied on artifacts such as tools and pottery to trace the geographical origin and movement of people through the Caribbean over time. Adding a biological component brings the region’s history into sharper focus, said Ann Ross, a professor of biological sciences at North Carolina State University and the study’s lead author.

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Ross used 3D facial “landmarks,” such as the size of an eye socket or length of a nose, to analyze more than 100 skulls dating from about A.D. 800 to 1542. These landmarks can act as a genetic proxy for determining how closely people are related to one another.

The analysis not only revealed three distinct Caribbean people groups, but also their migration routes, which was “really stunning,” Ross said.

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Looking at ancient faces shows the Caribbean’s earliest settlers came from the Yucatan, moving into Cuba and the Northern Antilles, which supports a previous hypothesis based on similarities in stone tools. Arawak speakers from coastal Colombia and Venezuela migrated to Puerto Rico between 800 and 200 B.C., a journey also documented in pottery.

The earliest inhabitants of the Bahamas and Hispaniola, however, were not from Cuba as commonly thought, but the Northwest Amazon – the Caribs. Around A.D. 800, they pushed north into Hispaniola and Jamaica and then the Bahamas where they were well established by the time Columbus arrived.

“I had been stumped for years because I didn’t have this Bahamian component,” Ross said. “Those remains were so key. This will change the perspective on the people and peopling of the Caribbean.”

For Keegan, the discovery lays to rest a puzzle that pestered him for years: why a type of pottery known as Meillacoid appears in Hispaniola by A.D. 800, Jamaica around 900 and the Bahamas around 1000.

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“Why was this pottery so different from everything else we see? That had bothered me,” he said. “It makes sense that Meillacoid pottery is associated with the Carib expansion.”

The sudden appearance of Meillacoid pottery also corresponds with a general reshuffling of people in the Caribbean after a 1,000-year period of tranquility, further evidence that “Carib invaders were on the move,” Keegan said.

Raiders of the lost Arawaks

So, was there any substance to the tales of cannibalism?

Possibly, Keegan said.

Arawaks and Caribs were enemies, but they often lived side by side with occasional intermarriage before blood feuds erupted, he said.

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“It’s almost a ‘Hatfields and McCoys’ kind of situation,” Keegan said. “Maybe there was some cannibalism involved. If you need to frighten your enemies, that’s a really good way to do it.”

Whether or not it was accurate, the European perception that Caribs were cannibals had a tremendous impact on the region’s history, he said. The Spanish monarchy initially insisted that indigenous people be paid for work and treated with respect, but reversed its position after receiving reports that they refused to convert to Christianity and ate human flesh.

“The crown said, ‘Well, if they’re going to behave that way, they can be enslaved,'” Keegan said. “All of a sudden, every native person in the entire Caribbean became a Carib as far as the colonists were concerned.”

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Michael Pateman of the Turks and Caicos National Museum and Colleen Young of the University of Missouri also co-authored the study.

Tyrannosaurus rex

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Researchers learn more about teen-age T.Rex

Photo by Mike on Pexels.com
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Without a doubt, Tyrannosaurus rex is the most famous dinosaur in the world. The 40-foot-long predator with bone crushing teeth inside a five-foot long head are the stuff of legend. Now, a look within the bones of two mid-sized, immature T. rex allow scientists to learn about the tyrant king’s terrible teens as well.

In the early 2000s, the fossil skeletons of two comparatively small T. rex were collected from Carter County, Montana, by Burpee Museum of Natural History in Rockford, Illinois. Nicknamed “Jane” and “Petey,” the tyrannosaurs would have been slightly taller than a draft horse and twice as long.

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The team led by Holly Woodward, Ph.D., from Oklahoma State University Center for Health Sciences studied Jane and Petey to better understand T. rex life history.

The study “Growing up Tyrannosaurus rex: histology refutes pygmy ‘Nanotyrannus’ and supports ontogenetic niche partitioning in juvenile Tyrannosaurus” appears in the peer-reviewed journal Science Advances.

Co-authors include Jack Horner, presidential fellow at Chapman University; Nathan Myhrvold, founder and CEO of Intellectual Ventures; Katie Tremaine, graduate student at Montana State University; Scott Williams, paleontology lab and field specialist at Museum of the Rockies; and Lindsay Zanno, division head of paleontology at the North Carolina Museum of Natural Sciences. Supplemental histological work was conducted at the Diane Gabriel Histology Labs at Museum of the Rockies/Montana State University.

“Historically, many museums would collect the biggest, most impressive fossils of a dinosaur species for display and ignore the others,” said Woodward. “The problem is that those smaller fossils may be from younger animals. So, for a long while we’ve had large gaps in our understanding of how dinosaurs grew up, and T. rex is no exception.”

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The smaller size of Jane and Petey is what make them so incredibly important. Not only can scientists now study how the bones and proportions changed as T. rex matured, but they can also utilize paleohistology– the study of fossil bone microstructure– to learn about juvenile growth rates and ages. Woodward and her team removed thin slices from the leg bones of Jane and Petey and examined them at high magnification.

“To me, it’s always amazing to find that if you have something like a huge fossilized dinosaur bone, it’s fossilized on the microscopic level as well,” Woodward said. “And by comparing these fossilized microstructures to similar features found in modern bone, we know they provide clues to metabolism, growth rate, and age.”

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The team determined that the small T. rex were growing as fast as modern-day warm-blooded animals such as mammals and birds. Woodward and her colleagues also found that by counting the annual rings within the bone, much like counting tree rings, Jane and Petey were teenaged T.rex when they died; 13 and 15 years old, respectively.

There had been speculation that the two small skeletons weren’t T. rex at all, but a smaller pygmy relative Nanotyrannus. Study of the bones using histology led the researchers to the conclusion that the skeletons were juvenile T. rex and not a new pygmy species.

Instead, Woodward points out, because it took T. rex up to twenty years to reach adult size, the tyrant king probably underwent drastic changes as it matured. Juveniles such as Jane and Petey were fast, fleet footed, and had knife-like teeth for cutting, whereas adults were lumbering bone crushers. Not only that, but Woodward’s team discovered that growing T. rex could do a neat trick: if its food source was scarce during a particular year, it just didn’t grow as much. And if food was plentiful, it grew a lot.

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“The spacing between annual growth rings record how much an individual grows from one year to the next. The spacing between the rings within Jane, Petey, and even older individuals is inconsistent – some years the spacing is close together, and other years it’s spread apart,” said Woodward.

The research by Woodward and her team writes a new chapter in the early years of the world’s most famous dinosaur, providing evidence that it assumed the crown of tyrant king long before it reached adult size.

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About Oklahoma State University Center for Health Sciences

Oklahoma State University Center for Health Sciences educates osteopathic physicians, scientists, allied health professionals and health care administrators for Oklahoma with an emphasis on serving rural and underserved Oklahoma. OSU-CHS offers graduate and professional degrees with over 1,000 students enrolled in academic programs in the College of Osteopathic Medicine, the School of Allied Health, the School of Health Care Administration, the School of Biomedical Sciences, and the School of Forensic Sciences. OSU Medicine operates a network of clinics in the Tulsa area offering a multitude of specialty services including addiction medicine, cardiology, family medicine, internal medicine, pediatrics, psychiatry and women’s health. Learn more at https://health.okstate.edu.

Autism Effects May Be Reversible

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Photo by Daniel Frank on Pexels.com
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A new study by researchers at The George Washington University School of Medicine and Health Sciences’ Department of Biochemistry and Molecular Biology highlights a mechanism for significant disruption of gene activity in autism that may be reversible. Published in the journal Genome Medicine on April 7, the study focuses on the differential expression of microRNA and addresses the issue of higher level regulation of gene expression in autism.

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MicroRNA are recently discovered snippets of RNA (ribonucleic acid), each of which can inhibit the expression (and thus activity) of hundreds to more than a thousand genes. The effects of microRNA are also reversible by treatment with complementary “anti-sense” RNA.

Valerie Hu, Ph.D., professor of Biochemistry and Molecular Biology, with a GW graduate student and collaborators at the National Institute of Mental Health, identified changes in the profile of microRNAs between identical twins and sibling pairs, discordant for diagnosis of autism. They discovered that, despite using cells derived originally from blood, brain-specific and brain-related microRNAs were found to be differentially expressed in the autistic samples, and that these microRNAs could potentially regulate genes that control many processes known to be disrupted in autism. For example, differentially expressed microRNAs were found to regulate genes highly involved in neurological functions and disorders in addition to genes involved in gastrointestinal diseases, circadian rhythm signaling, and steroid hormone metabolism.

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The study further shows that by treating the cells with “anti-sense” RNA antagonists (inhibitors) to specific microRNA or by employing mimics of a particular microRNA, one can reverse the pattern of expression of a given target gene regulated by that microRNA.

This study, titled “Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines” was highlighted as an “Editor’s pick” in Genome Medicine. It is available online at: http://genomemedicine.com/content/2/4/23.

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When paired with another recently published study regarding “DNA tagging” by methylation, Dr. Hu’s research illustrates two different “epigenetic” mechanisms controlling gene activity in autism that lie beyond genetic mutations. While methylation inhibits gene expression at the level of DNA, microRNA inhibits at the level of RNA. By integrating both DNA methylation and microRNA expression studies with gene expression data, Dr. Hu and her team are applying a systems biology approach to understanding this complex disorder.

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“It is becoming increasingly clear that many factors, genetic as well as epigenetic, contribute to the manifestation of autism spectrum disorders,” said Dr. Hu. “Epigenetic factors are particularly interesting as they provide potential mechanisms for introducing environmental effects into this complex disorder.”

About The George Washington University Medical CenterThe George Washington University Medical Center is an internationally recognized interdisciplinary academic health center that has consistently provided high-quality medical care in the Washington, D.C. metropolitan area since 1824. The Medical Center comprises the School of Medicine and Health Sciences, the 11th oldest medical school in the country; the School of Public Health and Health Services, the only such school in the nation’s capital; GW Hospital, jointly owned and operated by a partnership between The George Washington University and a subsidiary of Universal Health Services, Inc.; and The GW Medical Faculty Associates, an independent medical practice with nearly 350 physicians in 42 clinical specialties. For more information on GWUMC, visit www.gwumc.edu.

One-Fourth of Children with Autism Are Undiagnosed

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Black and Hispanic children are most at risk for missed autism diagnosis, according to a Rutgers researcher

Photo by Harrison Haines on Pexels.com
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One-fourth of children under age 8 with autism spectrum disorder — most of them black or Hispanic — are not being diagnosed, which is critical for improving quality of life.

The findings, published in the journal Autism Research, show that despite growing awareness about autism, it is still under-diagnosed, particularly in black and Hispanic people, said study co-author Walter Zahorodny, an associate professor at Rutgers New Jersey Medical School and director of the New Jersey Autism Study, which contributed to the research.

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Researchers analyzed the education and medical records of 266,000 children who were 8 years old in 2014, seeking to determine how many of those who showed symptoms of the disorder  were not clinically diagnosed or receiving services.

Of the nearly 4,500 children identified, 25 percent were not diagnosed.  Most were black or Hispanic males with deficits in mental abilities, social skills and activities of daily living who were not considered disabled.

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“There may be various reasons for the disparity, from communication or cultural barriers between minority parents and physicians to anxiety about the complicated diagnostic process and fear of stigma,” Zahorodny said, “Also, many parents whose children are diagnosed later often attribute their first concerns to a behavioral or medical issue rather than a developmental problem.” 

Screening all toddlers, preschool and school-age children for autism could help reduce the disparities in diagnosis, Zahorodny said. In addition, clinicians can overcome communication barriers by using pictures and/or employing patient navigators to help families understand the diagnosis process, test results and treatment recommendations.

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States can help improve access to care by requiring insurance companies to cover early intervention services when a child is first determined to be at risk rather than waiting for a diagnosis, he said.

The research was conducted through the Autism and Developmental Disabilities Monitoring Network, a surveillance program funded by the U.S. Centers for Disease Control and Prevention that tracks the prevalence of the developmental disorder in 11 states: Arizona, Arkansas, Colorado, Georgia, Maryland, Minnesota, Missouri, New Jersey, North Carolina, Tennessee and Wisconsin.