StemCell Therapy

Every week there are numerous scientific studies published. Heres a look at some of the more interesting ones.

Antibodies Respond Differently to Severe Versus Mild COVID-19

Researchers at Stanford Medicine found that COVID-19 antibodies preferentially target different parts of the SARS-CoV-2 virus in mild COVID-19 cases than they do in severe cases. In addition, they fade differently based on the severity of the case. People with severe COVID-19 have low proportions of antibodies that target the spike protein. In milder cases, the antibodies seem to do a better job of binding to the spike protein. The spike protein binds to the ACE2 receptor on human cells, which allows the virus to enter the cell. Once inside, the virus gets rid of its outer coat, takes over the cells protein-making machinery and churns out more viral particles that then infect other cells. Antibodies that bind to the spike protein block the ability to bind to ACE2. Antibodies that bind to other parts of the virus dont seem to prevent viral spread.

Antibody responses are not likely to be the sole determinant of someones outcome, said Scott Boyd, associate professor of pathology at Stanford. Among people with severe disease, some die and some recover. Some of these patients mount a vigorous immune response, and others have a more moderate response. So, there are a lot of other things going on. There are also other branches of the immune system involved. Its important to note that our results identify correlations but dont prove causation.

Understanding Brain Plasticity in Adults

When brains develop, they constantly grow new neuronal connectionssynapsesas they learn and remember. Important connects are nurtured and reinforced while seemingly unnecessary ones are pruned. Adult brains undergo similar treatment, but its not well understood why adult synapses are eliminated. A group of researchers at The Korean Advanced Institute of Science and Technology (KAIST) have found the underlying mechanism of plasticity, which could be related to neurological disorders in adult brains. The brains gray matter contains microglia and astrocytes. Microglia are a frontline immune defensethey eat pathogens and dead cells. Astrocytes are star-shaped cells that help structure the brain and maintain homeostasis with involvement in neuronal signaling. It was long thought that microglial eat synapses as part of their clean-up effort, a process called phagocytosis. But their research, using a new molecular sensor, found that it was actually the astrocytes that are constantly eliminating excessive and unnecessary adult excitatory synaptic connections.

New Class of Antibiotic Works Against Range of Bacteria

Investigators withThe Wistar Institute have identified a new class of antibiotics that have a broad range of antibacterial effects, including against microbes with antimicrobial resistance (AMR). They focused on a metabolic pathway essential for bacteria but absent in humans, called methyl-D-erythritol phosphate (MEP) or non-mevalonate pathway, which is responsible for biosynthesis of isoprenoids. Isoprenoids are required for cell survival in most pathogenic bacteria. The researchers targeted the IspH enzyme, essential in isoprenoid biosynthesis. They screened several million commercially available compounds using computer models to find ones that could bind with the enzyme and chose the most potent ones. Most IspH inhibitors cant penetrate the bacterial cell wall, so the researchers worked to identify and synthesize novel IspH inhibitors that could get inside the bacteria.

Rhesus Macaque Genome Reference Includes 85 Million Genetic Variants

Researchers at Baylor College of Medicine, the University of Missouri and the University of Washington created a new reference genome assembly, identifying more than 85 million genetic variants in the rhesus macaque. This makes it the largest database of genetic variation for any single nonhuman primate species. It is a big improvement over the first reference assembled in 2007, and they believe it can help analyze and answer fundamental questions in molecular genetics, cell biology and physiology, not just in rhesus macaques, but in humans and other primates and mammals.

This is a major step forward in the amount of information we have about genetic variation in the rhesus macaque, said Jeffrey Rogers, associate professor at the Human Genome Sequencing Center and Department of Molecular and Human Genetics at Baylor. We have actually identified thousands of new mutations in the population of research animals. Now colleagues all over the country who are investigating various aspects of health and disease using rhesus macaques can begin to make use of that information.

Common Diabetes Drug Linked to Rare COVID-19 Complications

Although diabetes is a known risk factor for COVID-19, researchers with Brigham and Women's Hospital have identified a rare COVID-19 complication with common diabetes drugs. The side effect is called euDKA, or euglycemic diabetic ketoacidosis. DKA occurs when the bodys cells do not absorb enough glucose and begin metabolizing fats instead, which results in a build-up of ketones. EuDKA is marked by lower blood sugar levels, making it harder to diagnose. The researchers evaluated five unusual euDKA cases that was a significantly higher level of incidence, all seen in COVID-19 patients taking sodium-glucose cotransporter 2 inhibitors (SLGLT2i). They believe that COVID-19 may increase the risk of euDKA by binding to cells on the pancreas that produce insulin. The three SGLT2 inhibitors approved by the FDA are Janssens Invokana (canagliflozin), AstraZenecas Farxiga (dapagliflozin) and Eli Lilly and Boehringer Ingelheims Jardiance (empagliflozin).

Whats Going on in the International Space Station?

The Expedition 64 crew took the day off for Christmas, but immediately afterwards went back to work on a variety of biological and medical research. Two studies evaluated new treatments for joint injuries and cancerone looked at bone, cartilage and synovium in artificial gravity chambers to better understand bone loss and joint damage; the second studied protein crystals grown in space and their ability to target cancer cells. A different study on several dozen mice evaluated the vascular changes in space on eyesight functionabout 40% of people working in space have vision changes from fluid shifts and radiation. Another experiment studied genetic changes in space and their impact on the growth and deterioration of bone tissue.

See the article here:
Research Roundup: Different Antibody Responses to COVID-19 and More - BioSpace

People wear face masks as they walk by an art installation in Montreal, Dec. 27, 2020, as the COVID-19 pandemic continues in Canada and around the world.

Graham Hughes/The Canadian Press

The emergence of a more contagious variant of the virus that causes COVID-19 does not require individuals to take new precautions, but it is now more important than ever that they follow existing public-health guidelines, doctors and scientists say.

While new variants of the virus SARS-CoV-2 have recently been detected in South Africa, Nigeria and Britain, the latter countrys version, called B117, has caused particular concern, as scientists estimate it is more transmissible than other mutations of the virus. This new variant has also been identified in people in Ontario, British Columbia, Alberta and Quebec, and the Canadian government has suspended flights from Britain until Jan. 6. Meanwhile in Britain, there are growing calls to impose another national lockdown and shut down schools and universities.

In a study, yet to be peer-reviewed, British scientists estimated B117 is 56 per cent more transmissible than pre-existing variants of the virus. Although they found no clear evidence that it affects the severity of illness, they warned that the increased transmissibility would likely lead to a surge in hospital admissions and deaths. They suggested strict lockdown measures may not be sufficient, unless primary schools, secondary schools and universities are closed.

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I would say that the current social distancing guidelines are more important than ever given this new variant, lead author Nicholas Davies of the London School of Hygiene and Tropical Medicine said in an e-mail. People should be cautious, follow the guidelines, and self-isolate if they suspect they may have been infected.

But the estimated increased transmissibility of the new variant does not mean existing public-health advice for personal protection such as wearing masks when you may come in close contact with others, keeping two metres away from people outside your household and maintaining hand hygiene will be less effective, experts say.

Rather than changing the current guidelines, Leighanne Parkes, an infectious-disease specialist and microbiologist at the Jewish General Hospital in Montreal, said she would be happy to see people actually follow them.

People take little shortcuts from time to time and give themselves little cheat days. And I think thats where the danger lies, when we let down our guard and we fail to remain vigilant, she said.

Dr. Parkes said family members have contacted her over the holidays, expressing worry that this new variant adds another twist to an already calamitous year. But, she explained, there have been numerous variants since the very emergence of SARS-CoV-2. And some, such as a variant called D614G, have become predominant worldwide.

Dr. Parkes said it is important to note that large task forces and working groups at the global level are trying to determine the significance of the changes to the virus in the new variant.

Technically, she said, it involves a mutation within a part of the binding loop, which is part of the virus that sticks to our ACE-2 receptors, the part of the cell to which the virus binds to gain entry. The concern is that since this mutation affects an important part of the virus and how it attaches to cells, it raises questions such as whether it has increased tissue-specificity that is, it binds to cells in the nose and upper respiratory tract where it can be spread through droplets with greater ease, whether smaller quantities of the virus can lead to infection, and whether it changes the way people respond to it.

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While there are experts working to rapidly answer these questions, I think as of now, we just dont know. These are all kind of black holes in our knowledge, she said.

In an e-mailed statement, Health Canada said the government is closely monitoring the variant and is working with international groups, including the World Health Organization.

While early data suggest that the United Kingdom variant may be more transmissible, to date there is no evidence that the mutations have any impact on symptom severity, antibody response or vaccine efficacy, it said, but noted evidence is limited at this time.

But no matter the variant, SARS-CoV-2 is a virus that transmits very easily, and it is well known that people can spread it when they are minimally symptomatic or asymptomatic, Dr. Parkes said.

As always, given the high potential for asymptomatic transmission of SARS-CoV-2, the most prudent course of action for individuals is to act as though they might have the virus, Dr. Davies at the London school added in his e-mail.

While the mutations of the new variant may change how efficiently people contract the virus, they do not change the mechanism by which it spreads, said Emanuel Goldman, a virologist and professor of microbiology, biochemistry and molecular genetics at Rutgers New Jersey Medical School.

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The main route of transmission is still through what we breathe, so wearing a mask in public places, particularly indoors, is still the first line of defence, Dr. Goldman said. There is no need to go back to wiping down groceries as many did at the beginning of the pandemic, since transmission of the virus from surfaces is almost non-existent, he said.

The virus may be more transmissible, but its not less fragile, he said, explaining it degrades rapidly when exposed to the environment.

When it comes to behaviours that stop the virus, everything should stay the same. What works for the parent will work for the variants, Dr. Goldman said.

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Experts stress importance of following public-health advice as COVID-19 variant emerges - The Globe and Mail

The great but grumpy biologist J.B.S. Haldane was once asked what evidence would disprove evolution, whereupon he growled: Fossil rabbits in the Precambrian. He was referring to the evolutionary fact that complex multicellular creatures came along later than simple, unicellular ones. A bit surprising, perhaps, that one of the foremost evolutionary geneticists of the 20th century immediately reached for a paleontological example, but Haldanes reply was well-suited for public consumption, because thenas nowwhen most people thought of evolution, they were likely to conjure images of dinosaur fossils.

Donald Prothero is a research associate in vertebrate paleontology at the Natural History Museum of Los Angeles County. When I learned he had written a book that examined 25 different discoveries relating to evolution, I assumed that he, like Haldane, would deploy paleontology in making his case. Mr. Protheros book is indeed tilted toward examples from the world of ancestral creatures, but, refreshingly, also guides the reader through impressive discoveries in embryology and molecular genetics.

The Story of Evolution in 25 Discoveries is a parade of self-contained vignettes, often including biographical sketches of the scientists who made and interpreted each discovery. This particular story begins (like everything else) with the big bang, followed by the fascinating tale of how science gradually came to understand the age of the Earth: From biblical literalism; through Lord Kelvins famous underestimate, in the 1890s, of 20 million years; to our current understanding of 4.5 billion years. Then comes a whirlwind tour of evolutionary change as it occurs, in real time, among microbes, plants, insects, fish, birds and mammals, obliterating the creationist canard that evolution hasnt even been witnessed, let alone studied.

Some of the most impressive evolutionary stories involve common body plans, technically known as homologies. Thanks to Mr. Prothero, I now know that Aristotle first noticed this widespread phenomenon, of which Darwin wrote: What can be more curious than that the hand of a man, formed for grasping, that of a mole for digging, the leg of the horse, the paddle of the porpoise, and the wing of the bat, should all be constructed on the same pattern, and should include similar bones, in the same relative positions? Curious indeed. And strongly suggestive of common descentor, for anti-evolutionists, of a Creators insistence on sticking with the same divine blueprint, or archetype, even when other more direct routes should have been available. The Darwinian story provides scientific insight into why homologies occur, whereas the theological story simply reiterates that they occur.

And on we go, to the embryonic similarities of otherwise distantly related creatures (ontogeny recapitulates phylogeny) and then biogeography (the sinking of Noahs Ark), which shows, among other relevant findings, that the flora and fauna of islands resemble those of nearby continentsa phenomenon that wouldnt necessarily be expected if each had been a special, independent creation. The story of life continues, detailing how living things within natural categories share those common body plans, or, as Darwin put it, how organic beings have been found to resemble each other in descending degrees, so that they can be classed in groups under groups. As a result, instead of being arbitrary, our system of biological classification conforms perfectly with the nested, branching patterns of evolutionary relationships demonstrated by anatomy, physiology and genetics. Moreover, as Mr. Prothero points out, if life had been specially created rather than evolved, there would be no reason for the molecular systems to reflect this pattern of similarity seen in megascopic features . . . [and] not even Darwin could have dreamed that the genetic code of every cell in your body also shows the evidence of evolution.

Originally posted here:
The Story of Evolution in 25 Discoveries Review: The Branching Tree of Life - The Wall Street Journal

BY THOMAS J ERVIN, MD We have somehow made it to the final week of 2020. Humorously it can be said that we can all look back at the first year of the pandemic, with usually accurate 20/20 vision. As we all move into 2021, there is time to consider New Years resolutions. This year that opportunity should not go unfilled.

The effects of COVID-19 have spared no one. Even the most skeptical of us, and the unbelievers have noticed something. The negatives are obvious: illness, personal loss, death, social distancing, and isolation to name a few. Positives can also be identified, including personal faith, strengthening family relationships, considering collective wellbeing, and finding value in simple daily routines.

For each of us the balance of the positives and the negatives results in how we see the pandemic and the events of 2020. This balance determines how we consider resolutions for the future. As I am not a student of politics and race relations, I will avoid those events in my reflection of 2020.

My first resolution for 2021 is that this will be the last article I write about COVID-19 and the pandemic. I have spent 40 years teaching, studying, and practicing medicine. I have seen the impact of molecular genetics and biology in most specialties including cancer medicine and infectious diseases. To witness the development of the applied science that has given us potentially preventative vaccines (now there are at least four) within a year is both astounding and unprecedented.

Just 65 years ago injectable inactivated polio vaccine (Dr. Salk) became a reality. It then took six more years for the oral vaccine (Dr. Sabin) to be commercially developed. The overall research effort took more than 20 years. Two doses given four to eight weeks apart provide life-long immunity. Yet eradication of the disease was not immediate.

While the United States is considered polio-free, it has taken until 2017 for the number of wild-type polio cases in the world to fall under 1,000 cases a year. Over the past 30 years, things have gotten better. With continued development of effective vaccine platforms and better understanding of the variables that affect vaccine efficiency (number of doses, added immunostimulants, immunosenescence with age), the vaccines of the 21st century have been more rapidly developed. Successful vaccines are now possible using inactivated intact virus, attenuated virus, toxoids that induce illness such as tetanus, and diphtheria, or subunit viral pieces as in the vaccines for Hepatitis B and Herpes virus. Other forms of vaccines exist, including conjugate vaccine and heterotypic vaccines such as BCG used to prevent tuberculosis and bladder cancer. The list grows yearly.

Now we have the first of a new wave of vaccines. The mRNA platform has arrived just in time. The mRNA-based vaccines being offered by Pfizer-NBiotech and by Moderna have been produced in record time. They come as a result of a decade of research developing innovative vaccines attempting to stimulate an immunologic response to both cancers and emerging viral threats such as Ebola. Synthetic production of mRNA nucleotide fragments and synthetic nanoparticle delivery envelopes have made possible the rapid development of the safe and effective vaccines now available to prevent coronavirus infection and COVID-19 illness. Similarly, the vaccines being developed by AstraZeneca, Novavax and Johnson & Johnson will quickly add options for effective vaccination for us all.

I say BRING IT ON!!!

Yet, in closing 2020, I think back on the history of vaccine development. Without comprehensive programs that incorporate the basics of public health, vaccination programs can work only so well or so fast. Surely, the rollout of the available vaccines will occur. The Boca Grande Health Clinic is in line with four separate pipelines for distribution. Unfortunately, the process is still too early for us to be able to identify the exact sources and timeline of delivery.

It is very likely that we will all have an opportunity for vaccination before the summer, but the next 90 to 180 days (not six to 20 years as in the past) will be critical for many of us. Unless we all buy into doing the right things collectively, COVID-19 will continue among us.

As my last words on COVID-19 (I promise), please wash your hands. Please wear a mask, especially indoors. And please distance yourself and avoid unnecessary indoor gatherings. Before Jenner figured out how to prevent smallpox just before 1800, one of every 13 persons living in London died or was severely disfigured by the disease. Be delighted you are living in 2021, at a time when science and public health policy can help you live well if you listen.

Have a happy and healthy 2021.

Thomas J. Ervin, M.D.

Boca Grande Health Clinic

Marcy Shortuse is the editor of the Boca Beacon, and has been with the paper since 2007. She is also editor of the Boca Beacon's sister publication, Gasparilla Magazine.She has more than 20 years of experience writing and editing local newspapers and is originally from the Chicago area.

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New Year's resolution 2021: A (last) word from Dr. Ervin - Boca Beacon

A study conducted by the World Health Organisation (WHO) estimated that 5.2 million children under five years of age died mostly from preventable and treatable causes in 2019. This staggering number can be brought down if advanced technology meets medicine to develop an early warning system.

This is the path taken by CognitiveCare, a healthtech startup founded by Venkata Narasimham Peri and Dr Suresh Attili and based out of Hyderabad and California, US.

Venkata Narasimham Peri, popularly known as PV, was a technology business consultant for more than two decades, having worked with PwC and other organisations. He decided to become an entrepreneur at the age of 48 when he realised artificial intelligence (AI) could become a valuable tool for the healthcare industry.

PV partnered with Dr Suresh Attili, a leading oncologist and scientist, to start CognitiveCare in 2018. The duo toyed with various segments like mental health and cancer, but decided to focus on maternal and infant healthcare, given the enormity of the problem.

He adds that the world loses 800 women to pregnancy-related complications every day and millions go through very complex pregnancies.

Both the founders bootstrapped CognitiveCare with an investment of $300,000 and decided to build an AI technology platform that could provide all relevant health indicators of an expectant mother to her doctor.

This AI platform, Maternal Infant Health Insights and Cognitive Intelligence (MIHIC), is a neural network that analyses all data of an expectant mother and come out with a score.

The development of such an open-sourced AI computing model also required an interdisciplinary approach as it was not just about medicine or computing algorithms. It also delved into other subjects such as mathematics, statistics,genetics, and even sociology.

The CognitiveCare team is inter-disciplinary and includes research scientists with a mathematics background and others with a focus on molecular genetics and software codes.

CognitiveCare founders: Dr Suresh VS Attili (left) and Venkata Narasimham Peri

Risk assessment

The MIHIC platform analyses all medical, clinical, genetic, radiological, social, and lifestyle determinants to predict early signs of maternal, infant, and foetal risks.

In short, MIHIC provides scores on all 48 indicators. For example, PV says, their studies have shown that women who stay near the sea have a higher probability of developing folic acid deficiency.

The score we provide allows for early-risk detection so doctors can take preventive action, PV says. He clarifies that the job of CognitiveCare is to only provide indicators; the decision on the treatments is the doctors alone.

CognitiveCare has taken all mandatory approvals and is HIPAA-compliant; it meets the highest standards in terms of maintaining privacy of the patients identity and data.

The healthtech startup has been in stealth mode till now and its technology platform has evinced interest from leading medical schools and institutions in United States and India. For example, Brigham and Womens Hospital in Boston, Massachusetts, is directing the research study to test MIHIC.

PV believes the application and benefits of their technology platform are not restricted to just hospitals as others like the government, pharmaceutical companies, and even health insurance firms stand to gain.

It can also accelerate the drug discovery process for pharmaceutical companies with better insights on maternal and infant care. Insurance companies can assess risks more accurately by using this platform.

CognitiveCare will primarily look at markets in the US, the UK, and India.

PV says many medical institutes are willing to share data, and feels the healthtech startup has no direct competition as it provides a 360-degree view of womens maternal health.

The founder says CognitiveCare's focus for the next three to four years would be maternal and infant healthcare. The startup, which has already $900,000 in a seed round with a pre-money valuation of $8 million, says they will later explore other areas of health.

We not only want to empower the doctor, but our eventual goal is that every woman - not just an expectant mother - can gauge her obstetric health," PV says.

More:
This healthtech startup uses AI to assess health risks of expectant mothers - YourStory

The genetic cause of a common brain malformation has been traced to variations in two genes associated with brain development, according to researchers atWashington University in St. Louis (WUSTL). This news, published in the American Journal of Human Genetics, enables researchers to develop early screening methods before the most serious symptoms arise, and thus intervene.

Chiari 1 malformation is a common, yet poorly understood condition. It is present in about 1% of children and occurs when the cerebellum is displaced through the foramen magnum into the spinal canal, thus placing part of the brain below the base of skull.

Usually, the condition is harmless, causing no or only minor medical issues. In 10% of those children, however, Chiari 1 malformation causes problems severe headaches, neck pain, and issues with hearing, vision, and balance or other neurological manifestations.

Gabriel Haller, Ph.D., an assistant professor of neurosurgery, neurology and of genetics, and his colleagues conducted whole-exome sequencing on 668 children diagnosed with Chiari 1 malformation. It revealed significant enrichment of variants in the chromodomain genes. They found, specifically, a significant burden of rare, transmitted variants in CHD3 and three loss of function variants in CHD8. Many of these variations were de novo, occurring during fetal development and not among family members.

The researchers also found that children with Chiari 1 who had larger heads (compared to age-matched controls and to population averages provided by the Centers for Disease Control and Prevention) often had CHD variants. Specifically, those whose heads were larger than 95% of children of the same age were four times more likely to be diagnosed with the malformation.

Its a significant factor, and easy to measure. If you have a child with an enlarged head, it might be worth checking with your pediatrician, Haller, senior author of the paper, said in a statement.

For severe symptoms, the Mayo Clinic says surgery is the most common treatment. Its goal is to to reduce the pressure on the brain and to halt further anatomic changes to the brain and spinal canal. Surgery may involve removing bone at the base of the skull, opening the dura mater covering the brain, or removing part of the spinal column to provide more room for the brain or spinal cord.

A lot of times people have recurrent headaches, but they dont realize a Chiari malformation is the cause of their headaches, Haller said. And even if they do, not everyone is willing to have brain surgery to fix it. We need better treatments, and the first step to better treatments is a better understanding of the underlying causes.

Theres an increased risk for Chiari malformations within families, which suggests a genetic underpinning, but nobody had really identified a causal gene, Haller said. Of the 232 family members who also underwent gene sequencing, 76 also had Chiari 1 malformation and 156 were unaffected.

The involvement of the CHD8 gene in regulating brain size was confirmed, in further experiments, on transparent zebrafish. When the researchers inactivated one copy of the fishschd8gene, the animals developed unusually large brains, with no change in their overall body size.

The implications of the finding extend beyond Chiari 1 malformations. Chromodomain genes are involved in regulating multiple sets of genes. As such, they also play a role in a variety of neurodevelopmental conditions, such as autism and developmental delays.

Its not well known how chromodomain genes function, since they have such a wide scope of activity and affect so many things at once, Haller said. But they are very intriguing candidates for molecular studies, to understand how specific mutations lead to autism or developmental delay or, as in many of our Chiari patients, just to increased brain size without cognitive or intellectual symptoms.

Wed like to figure out the effects of each of these mutations so that in the future, if we know a child has a specific mutation, well be able to predict whether that variant is going to have a harmful effect and what kind.

More than 20 clinical trials are underway for this condition, according to ClinicalTrials.gov. Most involve surgical procedures, although a few involve diagnostics. The trial most relevant to drug developers may be a genetics study of 1,000 patients completed by researchers at Duke University in 2017.

While not definitive, it implicated the COL5A2, COL7A1, COL1A2 genes, associated with Ehlers-Danlos syndrome, epidermolysis bullosa, and other conditions; and NRP1, FLT1, VEGFA and VEGFB genes because of their roles in the growth signaling pathway and in placental and vascular development. It confirmed the role of genetics in Chiari malformations and implicated linkages to variations in 21 genes.

Data from a December 2020 study is still being analyzed by the National Institute of Neurological Disorders and Stroke to analyze genetic linkages.

A lot of kids that have autism or developmental disorders associated with chromodomain genes may have undiscovered Chiari malformations, Haller said. The only treatment right now is surgery. Discovering the condition early would allow us to watch, knowing the potential for serious symptoms is there, and perform that surgery as soon as its necessary.

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WUSTL Researchers ID Elusive Cause of Chiari 1 Brain Malformation - BioSpace

The lowest part of a childs brain is visible below the bottom of the skull in this MRI scan and shows evidence of a Chiari 1 malformation. Researchers at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes linked to brain development, and that children with large heads are at increased risk of developing the condition. Credit: David Limbrick

Discovery could aid early screening, shed light on how Chiari malformation arises.

About one in 100 children has a common brain disorder called Chiari 1 malformation, but most of the time such children grow up normally and no one suspects a problem. But in about one in 10 of those children, the condition causes headaches, neck pain, hearing, vision and balance disturbances, or other neurological symptoms.

In some cases, the disorder may run in families, but scientists have understood little about the genetic alterations that contribute to the condition. In new research, scientists at Washington University School of Medicine in St. Louis have shown that Chiari 1 malformation can be caused by variations in two genes involved in brain development.

The condition occurs when the lowest parts of the brain are found below the base of the skull. The study also revealed that children with unusually large heads are four times more likely to be diagnosed with Chiari 1 malformation than their peers with normal head circumference.

The findings, published Dec. 21 in the American Journal of Human Genetics, could lead to new ways to identify people at risk of developing Chiari 1 malformation before the most serious symptoms arise. It also sheds light on the development of the common but poorly understood condition.

A lot of times people have recurrent headaches, but they dont realize a Chiari malformation is the cause of their headaches, said senior author Gabriel Haller, PhD, an assistant professor of neurosurgery, of neurology and of genetics. And even if they do, not everyone is willing to have brain surgery to fix it. We need better treatments, and the first step to better treatments is a better understanding of the underlying causes.

If people start experiencing severe symptoms like chronic headaches, pain, abnormal sensations or loss of sensation, or weakness, the malformation is treated with surgery to decompress the Chiari malformation.

Theres an increased risk for Chiari malformations within families, which suggests a genetic underpinning, but nobody had really identified a causal gene, Haller said. We were able to identify two causal genes, and we also discovered that people with Chiari have larger head circumference than expected. Its a significant factor, and easy to measure. If you have a child with an enlarged head, it might be worth checking with your pediatrician.

To identify genes that cause Chiari 1 malformation, Haller and colleagues sequenced all the genes of 668 people with the condition, as well as 232 of their relatives. Of these relatives, 76 also had Chiari 1 malformation and 156 were unaffected. The research team included first author Brooke Sadler, PhD, an instructor in pediatrics, and co-authors David D. Limbrick, Jr., MD, PhD, a professor of neurosurgery and director of the Division of Pediatric Neurosurgery, and Christina Gurnett, MD, PhD, a professor of neurologyand director of the Division of Pediatric and Developmental Neurology, among others.

Sequencing revealed that people with Chiari 1 malformation were significantly more likely to carry mutations in a family of genes known as chromodomain genes. Several of the mutations were de novo, meaning the mutation had occurred in the affected person during fetal development and was not present in his or her relatives. In particular, the chromodomain genes CHD3 and CHD8 included numerous variants associated with the malformation.

Further experiments in tiny, transparent zebrafish showed that the gene CHD8 is involved in regulating brain size. When the researchers inactivated one copy of the fishs chd8 gene, the animals developed unusually large brains, with no change in their overall body size.

Chromodomain genes help control access to long stretches of DNA, thereby regulating expression of whole sets of genes. Since appropriate gene expression is crucial for normal brain development, variations in chromodomain genes have been linked to neurodevelopmental conditions such as autism spectrum disorders, developmental delays, and unusually large or small heads.

Its not well known how chromodomain genes function since they have such a wide scope of activity and they are affecting so many things at once, Haller said. But they are very intriguing candidates for molecular studies, to understand how specific mutations lead to autism or developmental delay or, as in many of our Chiari patients, just to increased brain size without cognitive or intellectual symptoms. Wed like to figure out the effects of each of these mutations so that in the future, if we know a child has a specific mutation, well be able to predict whether that variant is going to have a harmful effect and what kind.

The association between chromodomain genes and head size inspired Haller and colleagues to measure the heads of children with Chiari malformations, comparing them to age-matched controls and to population averages provided by the Centers for Disease Control and Prevention. Children with Chiari tended to have larger than average heads. Those children with the largest heads bigger than 95% of children of the same age were four times more likely to be diagnosed with the malformation.

The findings suggest that children with larger heads or people with other neurodevelopmental disorders linked to chromodomain genes may benefit from screening for Chiari malformation.

A lot of kids that have autism or developmental disorders associated with chromodomain genes may have undiscovered Chiari malformations, Haller said. The only treatment right now is surgery. Discovering the condition early would allow us to watch, knowing the potential for serious symptoms is there, and perform that surgery as soon as its necessary.

Reference: Rare and de novo coding variants in chromodomain genes in Chiari I malformation by Brooke Sadler, Jackson Wilborn, Lilian Antunes, Timothy Kuensting, Andrew T. Hale, Stephen R. Gannon, Kevin McCall, Carlos Cruchaga, Matthew Harms, Norine Voisin, Alexandre Reymond, Gerarda Cappuccio, Nicola Burnetti-Pierri, Marco Tartaglia, Marcello Niceta, Chiara Leoni, Giuseppe Zampino, Allison Ashley-Koch, Aintzane Urbizu, Melanie E. Garrett, Karen Soldano, Alfons Macaya, Donald Conrad, Jennifer Strahle, Matthew B. Dobbs, Tychele N. Turner, Chevis N. Shannon, Douglas Brockmeyer, David D. Limbrick, Christina A. Gurnett and Gabe Haller, 21 December 2020, American Journal of Human Genetics.DOI: 10.1016/j.ajhg.2020.12.001

This study was funded by Sam and Betsy Reeves and the Park-Reeves Syringomyelia Research Consortium; the University of Missouri Spinal Cord Injury Research Program; the Childrens Discovery Institute of St. Louis Childrens Hospital and Washington University; the Washington University Institute of Clinical and Translational Sciences, grant number UL1TR000448 from the National Center for Advancing Translational Sciences of the National Institutes of Health (NIH); the Eunice Kennedy Shriver National Institute of Child Health & Human Development, award number U54HD087011 to the Intellectual and Developmental Disabilities Research Center at Washington University; the Swiss National Science Foundation, grant number 31003A_182632; and the Jrme Lejeune Foundation.

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Common Brain Malformation Affecting About 1 in 100 Children Traced to Its Genetic Roots - SciTechDaily

The Oxford team is led by Sarah Gilbert, professor of vaccinology at the universitys Jenner institute. She has hailed thefirst authorisation of use of the vaccine outside clinical trialsas aday for the team developing the vaccine to celebrate, after a year of extremely hard work under difficult circumstances. Although in the same sentence she struck a typically cautionary note: We still have more to do

Even after their vaccine has become just the third in the world to be granted regulatory approval (following the Pfizer/BioNTech and Moderna vaccines), nobody could accuse the Oxford researchers of being swept away in the hype. Indeed Gilbert and others in her team have spoken openly about how little they have enjoyed the constant attention over the past year, preferring instead to focus on their life-saving work.

During that time, lucrative offers for after dinner speaking gigs have started to roll in for Gilbert, which she has rejected in turn. Another key member of the Oxford group, Professor Catherine Green, who heads the universitys clinical biomanufacturing facility, recently described the media attention as awful. Of their new-found fame, she added: Its not something that we got into our careers to do.

The motivations of the Oxford team can instead be neatly surmised by a mug that Gilbert keeps in her office at the Jenner Institute, which says: Keep calm and develop vaccines. It is a mantra that has served her and her colleagues well this year, juggling the exhaustion of constant work with family life.Gilbert, after all, is the mother of 21-year-old triplets (biochemistry students at Oxford and Bath Universities) who took part in the phase 1 clinical trials of the vaccine. Her regime has involved getting up at about 4am each day, cycling to the laboratory and returning home at about 8pm.

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'Keep calm and develop vaccines': Meet the scientists behind the Oxford jab - Telegraph.co.uk

The latest market intelligence study on Nucleic Acid-based Therapeutics Market relies on the statistics derived from both primary and secondary research

Nucleic Acid-Based Therapeutics are used to target genes responsible for either the expression of a disease causing proteins or to correct the decreased protein expression in diseases where the absence of the protein contributes to a disease state. The Global Nucleic Acid-Based Therapeutics Market is expected to reach around USD 741.98 million by the end of the forecast period and is expected to grow at a CAGR of ~6.8%.

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Nucleic acid-based therapeutics are target deficiencies or dysfunctions at the molecular level and are targeted therapies. These are used specifically to target genetic diseases and disorders for which there exists no permanent cure such as thalassemia, sickle cell anemia, hemophilia, cystic fibrosis, diabetes etc. The nucleic acid-based therapeutics are based on accurate target identification and genetic profiling and the human gene project has formed the backbone of these class of drugs. As such nucleic acid-based medication have one of the most versatile and revolutionary potential.

The critical market driver for nucleic acid-based therapies is the poor cure rates for genetic diseases with traditional drugs. Other market drivers include increasing understanding of the human genetics, growing capabilities of mapping human tissue molecular targets, rising power of softwares to mimic the human molecular entities such as receptors etc.

Global Nucleic Acid-Based Therapeutics Market Study Objectives

To provide detail analysis of the market structure along with forecast for the next 6 years of the various segments and sub-segments of the global nucleic acid-based therapeutics market To provide insights about factors affecting the market growth To analyze the market based on various factors- price analysis, supply chain analysis, porters five force analysis etc. To provide historical and forecast revenue of the market segments and sub-segments with respect to four main geographies and their countries- Americas, Europe, Asia-Pacific, and Middle East & Africa.

Global Nucleic Acid-based Therapeutics Market Key Players

Some of the key players in this market are: Wave Life Sciences Ltd., Copernicus Therapeutics Inc., Imugene, Caperna, Phylogica, Protagonist Therapeutics, Benitec Biopharma, EGEN (Expression Genetics), Benitec Biopharma, BioMedica (Oxford BioMedica), Transgeneand others.

Global Nucleic Acid-based Therapeutics Market Regional Analysis

Globally America is the largest market for nucleic acid-based therapeutics. The presence of strong research base, excellent reimbursement scenario, the good provisions for orphan diseases and drugs and the rapid uptake of new drugs and technology are the prime reasons for this dominance. Europe is the second-largest market for nucleic acid-based therapeutics. The developed markets are likely to maintain their leads due to the nonexistence of regulatory framework in the developing and poor regions of the world such as Asia pacific region and Africa.

Global Nucleic Acid-based Therapeutics Market Intended Audience

Nucleic Acid-based Therapeutics Manufacturers

Nucleic Acid- based Therapeutics Suppliers

Private Research Laboratories

Research and Development (R&D) Companies

Market Research and Consulting Service Providers

Government Research Laboratories

Contract Manufacturing Organizations

Global Nucleic Acid-based Therapeutics Market Segments

Global nucleic acid-based therapeutics market has been segmented on the basis of technology which comprises anti-sense and anti-gene, short inhibitory sequences, gene transfer therapy, nucleoside analogs, ribozymes, aptamers and others. On the basis of applications; market is segmented into monogenetic disorders which is further sub segmented into thalassemia, sickle cell anemia, hemophilia, cystic fibrosis etc. and multi-genetic disorders which is sub segmented into cancer, diabetes, neurodegenerative diseases, cardiovascular diseases etc. On the basis of end users; market is segmented into hospitals, academic & research institutes.

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Avail a detailed research offering a comprehensive analysis of the developments, growth outlook, driving factors, and key players of the Chemotherapy Induced Peripheral Neuropathy Treatment market in the latest research report added by Research N Reports. The recent research report on the global Chemotherapy Induced Peripheral Neuropathy Treatment Market presents the latest industry data and future trends, allowing you to recognize the products and end users driving Revenue growth and profitability of the market.

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Abbott, Bristol Myers Squibb, Cipla Limited, Eli Lilly and Company, GlaxoSmithKline plc., Lupin Limited, Merck and Co. Inc., Novartis AG, Pfizer Inc., Dr. Reddys Laboratories, Mylan NV, Johnson & Johnson Services Inc., and Teva Pharmaceutical Industries Ltd. among others.

The report offers an extensive analysis of key drivers, leading market players, key segments, and regions. Besides this, the experts have deeply studied different geographical areas and presented a competitive scenario to assist new entrants, leading Chemotherapy Induced Peripheral Neuropathy Treatment players, and investors determine emerging economies. These insights offered in the report would benefit market players to formulate strategies for the future and gain a strong position in the global market.

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The report begins with a brief introduction and Chemotherapy Induced Peripheral Neuropathy Treatment overview of the Chemotherapy Induced Peripheral Neuropathy Treatment industry followed by its market scope and size. Next, the report provides an overview of market segmentation such as type, application, and region. The drivers, limitations, and opportunities for the market are also listed, along with current trends and policies in the industry.

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North America (United States, Canada and Mexico)

Europe (Germany, France, UK, Russia and Italy)

Asia-Pacific (China, Japan, Korea, India and Southeast Asia)

South America (Brazil, Argentina, Colombia)

Middle East and Africa (Saudi Arabia, UAE, Egypt, Nigeria and South Africa)

Besides this, the research demonstrates the growth trends and upcoming opportunities in every region.

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Analysts have revealed that the Chemotherapy Induced Peripheral Neuropathy Treatment market has shown several significant developments over the past few years. The report offers sound predictions on market value and volume that can be beneficial for the market players, investors, stakeholders, and new entrants to gain detailed insights and obtain a leading position in the market.

Additionally, the report offers an in-depth analysis of key market players functioning in the global Chemotherapy Induced Peripheral Neuropathy Treatment industry.

The research presents the performance of each player active in the global Chemotherapy Induced Peripheral Neuropathy Treatment market. It also offers a summary and highlights the current advancements of each player in the market. This piece of data is a great source of study material for the investors and stakeholders interested in the market. In addition, the report offers insights on suppliers, buyers, and merchants in the market. Along with this, a comprehensive analysis of consumption, market share, and growth rate of each application is offered for the historic period.

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Reaching the revenues of over US$ 6 Bn at the end of 2019, the globalneuropathic pain management marketis projected for a healthy CAGR during the forecast period (2019 2029). Increasing prevalence of neuropathic pain disorders and growing awareness about pain medication are boosting the demand for pain management drugs.

Pipeline strategies by manufacturers are focused on introducing advanced drugs with minimum side effects to increase market share. For instance, Pfizer sponsored drug Pregabalin, effective in treating neuropathic (nerve) pain resulting from peripheral nerve trauma that is in phase 3 clinical trials. Increasing research and development activities to develop medications for indications such as post-herpetic neuralgia are creating significant opportunities for manufactures to flourish in the market.

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Key Takeaways Neuropathic Pain Management Market Study

Increasing prevalence of diabetic neuropathy and availability of approved neuropathy pain medications have significantly added to the opportunities for market growth, thereby fostering the rate of adoption of neuropathic pain management drugs.

Increasing R&D Spending by Pharmaceuticals Companies Shaping Future

One of the key factors observed to impact the neuropathic pain management market growth is the development of new drugs for treatment of neuropathic and chronic pains. Companies are focusing on clinical trials to develop drugs for efficient treatment of neuropathic pain. For instance, Eli Lilly and Company developed Duloxetine (LY248686) for Diabetic Peripheral Neuropathic Pain (DPNP) that is under phase 4 clinical trial.

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At the same time, companies are focused on expanding therapeutic applications of drugs such as opioids and steroids for neuropathic pain management without causing any serious side effects to patients. Currently, more than 100 clinical trials are been carried out for pain management. Among those clinical trials, nearly half of the clinical trials are for various indications of neuropathic pain such as diabetic neuropathy and post-herpetic neuralgia.

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The neuropathic pain management market, a new study from Persistence Market Research, provides unparalleled insights on evolution of the neuropathic pain management market during 2014 2018 and presents demand projections during 2019 2029 on the basis of drug class (tricyclic anti-depressants, anticonvulsants, SNRIs, capsaicin cream, local anesthesia, opioids, steroids, and others), indication (diabetic neuropathy, trigeminal neuralgia, post-herpetic neuralgia, chemotherapy-induced peripheral neuropathy and others), distribution channel (retail pharmacies, hospital pharmacies, and online pharmacies) across prominent regions (North America, Latin America, Europe, Asia Pacific and MEA).

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Ischemic optic neuropathy is caused due to a small vessel infraction of the optic nerve and is a major cause of blindness or impaired vision among the inflicted. There are two types of ischemic optic neuropathies viz. anterior ischemic optic neuropathy and posterior or non-anterior ischemic optic neuropathy. Anterior ischemic optic neuropathy is caused by the inflammation of arteries supplying blood to the optic nerve whereas posterior or non-anterior ischemic optic neuropathy is caused due to reasons other than inflammation of the arteries. Anterior ischemic optic neuropathy is more prevalent as compared to posterior ischemic optic neuropathy. In anterior ischemic optic neuropathy, immediate treatment is required to prevent vision loss in the fellow eye as approximately 50 percent of cases have chances of blindness in another eye within a span of 5 to 10 days without treatment. The symptoms of ischemic optic neuropathy include unilateral, acute and painless visual loss for hours to days. Hypertension, diabetes, and hypercholesterolemia are some of the well-known risk factors associated with ischemic optic neuropathy disease. Other factors include generalized hypoperfusion, sleep apnea, nocturnal hypotension, vasospasm, severe anemia and failure of autoregulation.

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Technological advancements in ischemic optic neuropathy treatment and availability of alternative drugs are anticipated boost the demand for ischemic optic neuropathy treatments over the forecast period.

The global ischemic optic neuropathy treatment market can be segmented on the basis of disease type, treatment type and end user.

On the basis of disease type, the global ischemic optic neuropathy treatment market can be segmented into:

On the basis of treatment type, the global ischemic optic neuropathy treatment market can be segmented into:

On the basis of end user, the global ischemic optic neuropathy treatment market can be segmented into:

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The global ischemic optic neuropathy treatment market is expected to register a significant CAGR over the forecast period. The increasing adoption of recently approved intravitreal implants in the treatment of ophthalmology diseases is anticipated to propel the growth of the ischemic optic neuropathy treatment market over the forecast period. Leading pharmaceutical and drug manufacturing companies from developed countries are substantially investing in R&D, infrastructure and new technologies in ophthalmology therapeutics to capture a market share in the growing burden of eye diseases, which also boosts the growth of the global ischemic optic neuropathy treatment market. With growing awareness towards eye-related complications that lead to blindness, geriatric population and diabetic patients in developed countries, such as the U.S., Russia, and Poland, Germany and Japan are seen to have a proactive approach for treatment related to complications rather than reactive treatment, which also bolsters the growth of the market of ischemic optic neuropathy treatment.

Corticosteroid is the first choice of therapy for patients with ischemic optic neuropathy in prominent countries, such as the U.S., Germany, France, and Russia; however, a majority of patients have developed resistance to anti-VEGF, which leads to the adoption of alternative therapy in patients with ischemic optic neuropathy. This is anticipated to drive the growth of the global ischemic optic neuropathy treatment market in the long run.

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However, medications such as intravitreal injections of anti-VEGF drugs and corticosteroids lead to an instant increase in intraocular pressure, which may lead to severe adverse effects such as conjunctival haemorrhage, eye pain, cataract, vitreous floaters, intraocular pressure increased and vitreous detachment. This may restrain the growth of the global ischemic optic neuropathy treatment market.

On the basis of regional presence, the global ischemic optic neuropathy treatment market can segmented into five key regions, namely North America, Latin America, Europe, Asia-Pacific, and Middle East & Africa.

North America is a dominant region in the market and contributes a leading share to the global ischemic optic neuropathy treatment market in terms of revenue. The market in the region is expected to register significant growth over the forecast period due to the availability of developed medical infrastructure and treatment facilities in the region. Europe also contributes a moderate share and registered a healthy growth rate in the global ischemic optic neuropathy treatment market. The APEJ region has become a lucrative market for ischemic optic neuropathy treatment and is anticipated to register a significant share over the forecast period, due to the increase in research and development activities along with the growth in medical tourism in the region. Latin America and MEA are in the nascent stage in the global ischemic optic neuropathy treatment market and are expected to register moderate growth over the forecast period.

Some of the market players operating in the ischemic optic neuropathy treatment market include

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In the early days of the pandemic, we believed that once an individual initially recovered from a COVID-19 infection, the worst was over. However, over the last many months, researchers, doctors, and health experts realized that for some people, the most crippling manifestations of the coronavirus occur after the initial infection has passed. Post-COVID Syndrome, "Long Hauler's Syndrome, or long-term COVID are the names given to a mysterious condition that can occur many months after 'recovering' from COVID-19," William Li, MD, physician, scientist and author of the New York Times bestseller Eat to Beat Disease: The New Science of How Your Body Can Heal Itself tells Eat This, Not That! Health. Read on to see if you have the symptomsand to ensure your health and the health of others, don't miss these Sure Signs You've Already Had Coronavirus.

Although Post-COVID Syndrome has been identified, we are still struggling to understand all the hows, whys, and whens. "While this syndrome is still not well understood, what is clear is that the condition involves damage to blood vessels, inflammation, and damage to nerves, known as neuropathy."

One of the most perplexing aspects of long haulers is that many of them suffered initial infections that were seemingly mild and required zero medical treatment. However, weeks to months later, they struggle to function in everyday life.

One of the more debilitating symptoms of long hauler syndrome is extreme exhaustion. "Many viruses (e.g.mono and dozens of others) can trip a critical almond-sized circuit breaker in the brain called the hypothalamus," says Jacob Teitelbaum, MD, board-certified internist nationally known expert in the fields of chronic fatigue syndrome and author of From Fatigued to Fantastic!. "This leaves people barely or nonfunctional. They may barely be able to work, or even be housebound," explains Dr. Teitelbaum. "The virus can directly suppress the cellular energy furnaces called the mitochondria, leaving you feeling wiped out."

While shortness of breath is one of the more common symptoms of an initial COVID-19 infection, it is also a defining sign of long hauler syndrome. "There's no more infection, but you still have difficulty breathing at times," explains Dr. Lil. "Early studies have revealed blood vessel loss in the lungs as one explanation."

"Many long haulers report irregularities in their heart, including the sensation of their heart racing. The coronavirus can infect the heart and damage its tiniest blood vessels, but some people experience their heart rate suddenly increases," Dr. Li explains.

Dr. Li explains that an increase in heart rate can leave you feeling dizzy and weak. "The cause of this is unknown but may involve both nerves and blood vessels," he says.

RELATED: 7 Tips You Must Follow to Avoid COVID, Say Doctors

Sleep disturbances are also common symptoms of long COVID. "This includes difficulty falling and staying asleep, as well as waking unrefreshed," says Dr. Teitelbaum. "This is because the hypothalamic circuit breaker controls sleep."

Brain fog, a term commonly used by Dr. Anthony Fauci, the nation's leading infectious disease expert, in association with long term COVID, is another mysterious manifestation. Dr. Teitelbaum explains it as having "difficulty with short term memory, as well as word finding or substitution. This occurs for many reasons, including altered brain blood flow from the virus and overactivity of brain cells called microglial activation," he says.

Like shortness of breath, a persistent cough can come from lung or heart inflammation from the virus, claims Dr. Teitelbaum. "This normally heals over time, and recovery can be accelerated with natural therapies," he says.

If you have the "paradoxical combination of exhaustion and insomnia despite being more than 12 weeks after the onset of COVID-19 symptoms," you can assume you are a long hauler. "Called post-viral Chronic Fatigue Syndrome (CFS), this occurs in about 15% of cases," Dr. Teitelbaum says.

RELATED: The New COVID Symptom Every Woman Needs to Know

While antibody tests aren't flawless, and can rear false negatives, in many cases they can detect antibodies of the virus and confirm that you were, in fact, infected. If you believe you are a long hauler, you should contact your physician to discuss treatment options.

As for yourself, follow Fauci's fundamentals and help end this surge, no matter where you livewear a face mask, social distance, avoid large crowds, don't go indoors with people you're not sheltering with (especially in bars), practice good hand hygiene, get vaccinated when it becomes available to you, and to protect your life and the lives of others, don't visit any of these 35 Places You're Most Likely to Catch COVID.

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The CURE Voices program highlights the stories and advice of patients, survivors and caregivers alike who have valuable knowledge and experience with cancer. It is also sometimes an outlet to discuss the challenges of cancer that may get lost in the headlines of the latest approval or just provide a space of understanding.

In 2020, just like everyone else, the contributors had to deal with an ever-changing world while simultaneously dealing with the ongoing challenges of cancer even after treatment is well over. Here are the 10 most popular Voices articles from 2020 for you to revisit.

10. COVID-19 is Stealing Precious Time from Cancer Survivors

In the summer, contributor Jane Biehl wrote about how the changes the COVID-19 pandemic brought about to our daily lives was robbing cancer survivors and patients alike of the precious borrowed time they had. I feel cheated. I think if we are honest, we all do. Precious time, which we cancer survivors know is fleeting, is flying by and we all feel robbed.

9. The Elephant in the Room: Cancer Treatment Made Me Clumsier

Felicia Mitchell discusses the lingering ramifications of her treatment for cancer and how she had to find a balance in dealing with her neuropathy and living the life she wanted to at home. For a long time, I refused to acknowledge the lingering effects of neuropathy. I found a way to joke about it and told everybody I was clumsy. To acknowledge the elephant in the room, I had to admit I needed to explore balance further, she writes.

8. Old Photos Give Cancer Survivors Snapshots of Their Former Selves

We can never predict our future of course, but looking back, there will always be snapshots of our former selves. One of the keys for me in accepting my disease as something more than simply an unfair curse was in seeing those snapshots of me before I had cancer as a separate life in a sense, writes male breast cancer survivor Khevin Barnes as he explores his old life with his new reality.

7. Clearing Away Clutter and the Fear of Another Cancer

Recurrence is a thought never far away from the mind of anyone who has been touched by cancer. Write Laura Yeager discusses that fear as she looks to declutter both her house and her own fears.

6. The Big Dates After Cancer Takes A Loved One Away

After cancer took her husband away, caregiver Erica Finamore discusses the importance of celebrating the important dates and milestones. Even after cancer has taken your loved one away.

5. Becoming The Supporter Over The Cancer Survivor

Sometimes the cancer survivor finds themselves in the position of supporter, such as the case of contributor Danielle Ripley-Burgess who had to help her friend through a breast cancer diagnosis. Ive learned what being a good friend to a cancer survivor takes. And this month, it looks like making sure other breast cancer survivors, get their time to shine.

4. Dont Ignore Sleep Problems That Come From Cancer Treatment

Cancer, and subsequent treatments for cancer, come with a host of side effects and lingering issues that stay with you for the rest of your life, but that doesnt mean you cant mitigate them. Contributor Martha Carlson discusses why you shouldnt ignore sleep issues that come from treatment, and some tips on how to counteract them.

3. Triggers That Remind Me of My Daughter's Cancer Are Everywhere

A cancer diagnosis is a traumatic event for everyone involved, and as with most traumatic events, there are things big and small that pull us back into the distress as if it was happening right now, writes contributor Debbie Legault as she navigates the lingering emotions from her own daughters cancer journey.

2. Weighing The Pros and Cons of Receiving the COVID-19 Vaccine

Given the opportunity to receive the COVID-19 vaccine as a first responder, contributor Tamera Anderson-Hana weighs the pros and cons of receiving the vaccine and trying to find a way past COVID-19.

1. A Final Farewell

After the passing of CURE Magazine co-founder and longtime contributor Kathy LaTour contributor Kim Johnson writes about her brief interactions with Kathy LaTour and how her writing shaped her own.

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The 10 Most Popular CURE Voices Articles of 2020 - Curetoday.com

Survey responses revealed the physical and emotional toll of primary hyperoxaluria (PH) on patients and their families,1 while an accompanying paper aimed to identify appropriate end points for clinical trials of treatments.2

Both papers were published in the Clinical Journal of the American Society of Nephrology, and they highlight areas of need for individuals with PH, a rare genetic condition that causes the body to produce excess oxalate, leading to kidney stones, kidney failure, and oxalosis (oxalate accumulation).

Among the 42 survey respondents (17 patients, 25 parents/caregivers), 60% of the patients had PH type 1 (the most severe form), half were 17 years or younger, and 24% had experienced dialysis. Kidney stones were a top concern for patients and parents. The stones commonly occur in childhood in those with PH and can recur unpredictably throughout the lifespan, sometimes requiring surgical procedures.

My son has had multiple surgical procedures beginning at 6 months old. These procedures were very traumatic both physically and emotionally, a parent reported.

Another common theme was anxiety around the prospect of kidney failure, which can lead to oxalosis. Dialysis is initiated early in PH, but it is not completely effective in clearing the oxalate load, meaning that patients may require hemodialysis 6 days per week plus peritoneal dialysis daily. Frequent dialysis can be a great burden on caregivers, with some survey respondents describing the lack of sleep they experienced while coordinating their childrens routines.

Oxalosis was a prominent fear among the respondents; systemic oxalosis can be associated with bone fractures, anemia, joint damage, vision impairment, and neuropathy.

My brother experienced such intense nerve pain that he was unable to wear gloves during the winter. I ordered special gloves made of light but warm material for him. Unfortunately, he died before they were delivered, a respondent recounted.

Survey respondents also expressed the psychological toll that comes from living with PH and not knowing when kidney failure may occur. The authors noted that missing work for health reasons can cause significant medical and financial burdens.

Due to the many stressors from living with PH, the survey respondents agreed that new therapies to prevent oxalosis and avoid dialysis and transplant are of utmost importance.

In the accompanying article about end points of clinical trials for PH treatments, the authors note that there are no therapies approved by the FDA. The project reported in the study convened a work group of patients, physicians, investigators, industry representatives, and regulators to discuss the clinical outcomes and end points that could be used to evaluate new treatments. They concluded that the strongest candidates were kidney stone occurrence, change in the estimated glomerular filtration rate, urine oxalate, and plasma oxalate.

The article also detailed the advantages and disadvantages of using each potential end point. For instance, kidney stones have a significant impact on quality of life and functioning for patients with PH, but there are varying standards for measurement and longitudinal monitoring of the stones. Conversely, kidney failure is an outcome that is easy to measure, but it may not occur frequently enough in a trial that it could be evaluated as an outcome, depending on the length and sample size of the trial.

The authors noted that their conclusions on the feasibility of each potential are based mainly on patients with PH type 1, who account for most patients with PH. Small numbers of patients with [PH] type 2 and [PH] type 3 in [PH] registries do not yet provide a similar strength of evidence for these biomarkers in other forms of [PH], they explained.

References

1. Lawrence JE, Wattenberg DJ. Primary hyperoxaluria: the patient and caregiver perspective. Clin J Am Soc Nephrol. 2020;15(7):909-911. doi:10.2215/CJN.13831119

2. Milliner DS, McGregor TL, Thompson A, et al. End points for clinical trials in primary hyperoxaluria. Clin J Am Soc Nephrol. 2020;15(7):1056-1065. doi:10.2215/CJN.13821119

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Patients, Caregivers Report Burden of Living With Primary Hyperoxaluria - AJMC.com Managed Markets Network

A massive study published in 2020 found evidence that blood iron levels could play a role in influencing how long you live.

It's always important to take longevity studies with a big grain of salt, but the research was impressive in its breadth, covering genetic information from well over 1 million people across three public databases. It also focused on three key measures of ageing: lifespan, years lived free of disease (referred to as healthspan), and making it to an extremely old age (AKA longevity).

Throughout the analysis, 10 key regions of the genome were shown to be related to these measures of long life, as were gene sets linked to how the body metabolises iron.

Put simply, having too much iron in the blood appeared to be linked to an increased risk of dying earlier.

"We are very excited by these findings as they strongly suggest that high levels of iron in the blood reduces our healthy years of life, and keeping these levels in check could prevent age-related damage," said data analyst Paul Timmers, from the University of Edinburgh in the UK.

"We speculate that our findings on iron metabolism might also start to explain why very high levels of iron-rich red meat in the diet has been linked to age-related conditions such as heart disease."

While correlation doesn't necessarily mean causation, the researchers used a statistical technique called Mendelian randomisation to reduce bias and attempt to infer causation in the data.

As the researchers noted, genetics are thought to have around a 10 percent influence on lifespan and healthspan, and that can make it difficult to pick out the genes involved from all the other factors involved (like your smoking or drinking habits). With that in mind, one of the advantages of this new study is its sheer size and scope.

Five of the genetic markers the researchers found had not previously been highlighted as significant at the genome-wide level. Some, including APOE and FOXO3, have been singled out in the past as being important to the ageing process and human health.

"It is clear from the association of age-related diseases and the well-known ageing loci APOE and FOXO3 that we are capturing the human ageing process to some extent," wrote the researchers in their paper published in July 2020.

While we're still in the early stages for investigating this association with iron metabolism, further down the line we could see the development of drugs designed to lower the levels of iron in the blood - which could potentially add extra years to our lives.

Besides genetics, blood iron is mostly controlled by diet and has already been linked to a number of age-related diseases, including Parkinson's and liver disease. It also affects our body's ability to fight off infection as we get older.

We can add this latest study to the growing evidence that 'iron overload', or not being able to break it down properly, can have an influence on how long we're likely to live, as well as how healthy we're likely to be in our later years.

"Our ultimate aim is to discover how ageing is regulated and find ways to increase health during ageing," says Joris Deelenwho studies the biology of ageing at the Max Planck Institute for Biology of Ageing in Germany.

"The 10 regions of the genome we have discovered that are linked to lifespan, healthspan, and longevity are all exciting candidates for further studies."

The research has been published in Nature Communications.

A version of this article was first published in July 2020.

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Study of More Than 1 Million People Finds Intriguing Link Between Iron Levels And Lifespan - ScienceAlert

In a year that was anything but predictable, one constant held fast: Americas farmers and ranchers and, among them, Hereford breeders.

In this year-end report from the American Hereford Association (AHA), we learn how Hereford cattlemen and women grew the breed through 2020.

Despite the unforeseen challenges of 2020, AHA Executive Vice President Jack Ward says Hereford breeders and the American Hereford Association continued to add value to Hereford genetics. Year-end reports shared during the Associations recent annual meeting show their efforts paid off.

"As the commercial industry has looked to add crossbreeding back into the programs to increase fertility, longevity, disposition all the things that are known in Hereford cattle its created a great opportunity for us said Ward.

Ward reports the Association experienced increases in registrations and memberships this fiscal year, while sale averages climbed.

The real excitement within our breed and within our membership is in its growth" said Ward. "Its seen growth because the breeders have been committed to genetic improvement and providing the tools necessary to make the changes to produce the type of product that their customers need and then, ultimately, the consumer. So its all encompassing.

Learn more from the American Hereford Associations virtual educational sessions and 2020 annual meeting at Hereford.org.

Youll find a series of highlights, including the presentation of more than $150,000 in scholarships, as well as breed honorees and other Hereford news. Virtual educational sessions are also available and cover topics from genomics to marketing.

Source: American Hereford Association

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Hereford Thrives in an Uncertain Year - AG INFORMATION NETWORK OF THE WEST - AGInfo Ag Information Network Of The West

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Covid-19 Update Precision Medicine Software market: Poised to Garner Maximum Revenues by 2027 with major key players in the market Syapse, Allscripts,...

While most scientists look at Covid-19 as a viral respiratory illness, Nir Barzilai takes a slightly different perspective. Instead Barzilai, founder of the Institute of Ageing Research at the Albert Einstein College of Medicine in New York, sees it as a disease of ageing.

The grim statistics show that he has a point. In Europe, people over 60 have accounted for 90% of fatalities since the start of August. While the impact of Covid-19 has been universal, older people have been disproportionally affected.

This virus has no eyes, but it could see immediately who is old and more vulnerable, says Barzilai.

For Barzilai and other geroscientists scientists who study the biology of ageing this represents an opportunity. They have long argued that we need a different perspective for tackling many chronic diseases, from cancer to Alzheimers. As all of these illnesses become more common with age, geroscientists have suggested that therapies attempting to reverse some of the cellular mechanisms of ageing, might make older individuals more resilient to a whole range of diseases.

The premise of this approach is that while we typically measure age chronologically, the number of years we have been alive, your biological age says far more about your health. Biological age is indicated through various biomarkers ranging from the length of telomeres the tips of chromosomes to changes in DNA expression, and even your gut microbiome.

Some 55-year-olds may be biologically equivalent to 45, making them more resilient to disease, while others may be far older, due to lifestyle or genetics.

Since the 1930s, scientists have identified certain drugs which appear capable of reversing biological ageing in mice. Over the past nine months, the pandemic has provided increasing evidence they may be capable of doing the same in humans. Covid has moved anti-ageing from hope to promise, says Barzilai. The promise is that ageing is flexible, and can be manipulated, is something weve shown again and again in animals.

Geroscientists have defined eight hallmarks of biological ageing, which when targeted can improve health and lifespan in animals. These hallmarks range from declining immune function, to a decrease in the quality and quantity of mitochondria the energy factories of our cells and an impaired ability of cells to perform garbage disposal and remove toxins or viruses.

There are drugs which can target some hallmarks of ageing, including resveratrol - a compound found naturally in foods such as blueberries but the impact of Covid-19 has sparked particular interest in a cheap, commonly available medication called metformin, which has been used to treat diabetes for over fifty years, due to its ability to lower glucose levels. But recently, epidemiologists have begun to notice people taking it for diabetes also appeared to have reduced rates of cardiovascular disease and cancer.

When the pandemic began, an early study from a hospital in Wuhan sparked particular interest. It showed diabetics taking metformin were much less likely to die of Covid-19 than diabetics not on the drug. Geroscientists around the world took note.

Because of the number of people contracting Covid-19, we could gather data on metformin and its impact on reducing mortality, which would otherwise have taken years to collect, says Vadim Gladyshev, a biochemist at Harvard Medical School.

Soon, further studies yielded similar findings. Doctors at the University of Minnesota found metformin lowered mortality rates across more than 6,000 Covid-19 patients with diabetes, albeit only in women.

Barzilai believes he understands why. In a paper published earlier this year, he showed that metformin targets all eight hallmarks of ageing at the same time. Now, this accumulation of evidence has helped convince investors to provide $75 million in funding for a landmark randomised control trial called TAME.

Intended to begin in June 2021, it aims to see whether giving metformin to older people for four to five years, can give them more years of good health. If this proves successful, it could see metformin licensed by regulators as the worlds first clinically proven anti-ageing therapy.

In April, Edwin Lam, a pharmacologist at Thomas Jefferson University, was looking at AI-based predictions of potential Covid-19 treatments and found a drug called rapamycin ranked higher than many highly touted alternatives.

Rapamycin is currently used to prevent organ transplant rejection, but geroscientists have been interested in its effects on longevity for decades. It specifically targets a pathway called mTOR, a major driver of many of the cell degradation processes that occur with ageing. Because rapamycin inhibits mTOR, it can help reactivate different parts of the immune system, making them behave like a younger person.

Boston-based biotech company resTORbio have previously shown that forms of rapamycin can reduce rates of respiratory infections in over 65s. They are now conducting a clinical trial in the US, looking at whether giving rapamycin to nursing home residents on a daily basis, could protect them from becoming severely infected with Covid-19. If successful, it could pave the way for rapamycin becoming a new treatment for protecting older people from seasonal infections, and future viral outbreaks.

The renewed interest in biological ageing as a result of Covid-19, could also yield benefits for other diseases linked to the ageing process, in particular Alzheimers. For years, pharma companies have attempted to develop treatments which target the accumulation of amyloid proteins in the brain during the course of the disease.

With Covid-19 increasing the spotlight on how ageing makes people more vulnerable to disease, Alzheimers scientists have begun to consider alternative approaches. I think neurologists are becoming more open to the idea that we have been too insensitive to the ageing context in which Alzheimers occurs, says Jeffrey Cummings, professor of neurology at UCLA. Most patients have the onset of their disease in their 80s, where you get this accumulation of multiple adverse influences on cognitive function.

One particular clue about how to prevent this accumulation may lie in our DNA. As we age, telomeres become shorter, leading to a variety of cell changes. However, in 1984 biologists Elizabeth Blackburn and Carol Greider discovered an enzyme produced in cells called telomerase which naturally prevents telomere shortening, a finding which won them the 2009 Nobel Prize.

Telomerase levels also decline with age, but in recent years pharma companies have begun to wonder whether artificially boosting telomerase through drugs, could prevent age-related diseases.

Seoul-based pharma company GemVax have developed a product named GV1001 which boosts telomerase levels in cells, with the aim of seeing whether it can prevent decline in Alzheimers patients and prevent the onset of the disease altogether. In a recent Phase II clinical trial of moderate to severe Alzheimers patients, they reported promising results on an assessment tool called the severe impairment battery (SIB) scale. The results exceeded our expectations, said Jay Sangjae Kim, chairman of GemVax.

With the major test a Phase III trial which is set to get underway in 2021 still to come, the results must be viewed cautiously, but the success of GV1001 has the potential to yield a new frontier of telomerase based drugs for age related diseases.

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The New Anti-Ageing: How the pandemic unlocked new ways to lower your biological age - Telegraph.co.uk

Sue Scheible|The Patriot Ledger

QUINCY -- Dorothy "Dot" Cole was a reluctant interview at the age of 98 in 2016. "The only time you belong in thenewspaper is for your obituary," she said. "No one wants to hear you bragging about yourself before that."

I was fortunate to be able to coax a few stories out of Dot,a charmer who was still working from the home in Weymouth where she had lived her entire life. After that, she wouldn't talk to me again when she reached age 100. Dot would have turned 102on Christmas Day this year but died Dec. 10 at home. Her obituary gave her arepeat appearance in the paper where she recapped the facts of her life.

At the opposite end of the publicity spectrum of remarkable elders I have met was the irrepressible Ruth Kundsin of Quincy, a "Let's go for it" interview subject from the start. Tipped off by her friends,I wrote about her becoming a centenarian in 2016 and followed her each year after. She surprised and delighted readers and drew national attention:at age 103 she was working out with herpersonal trainer Dick Raymond weekly at the South Shore YMCA in Quincy

She kept that regimen up until this year, when at 104 she decided enough was enough in July. She was working on a book about her pioneering professional life as a microbiologistwhen shedied at home on Thanksgiving Day, family and friends by her side. Ruth was anAssociate Professor of Microbiology and Molecular Genetics, Emerita, at Harvard Medical School. Her groundbreaking research on airborne pathogensled to important changes in hospital and operating room protocols.

Turning 104, Ruth Kundsin of Quincy tells it like it is

As retired microbiologist Ruth Kundsin turns 104, she wonders if it's time to stop her workouts with a personal trainer at the South Shore YMCA.

Sue Scheible, The Patriot Ledger

In May, the legendary Mary Pratt of Quincy died at age 101 after a long and illustrious career teaching physical education and fighting for the rights of women in sports. In 1943, Pratt became a pitcher in the All-American Girls Professional Baseball League.

She was one of the first members of the Rockford Peaches,the team featured in the movie "A League of Their Own."

As a youngster, she loved playing ball with the boys in her Connecticut neighborhood. Her family moved to Quincy; she graduated from North Quincy Highand attended Sargent College of Physical Education at Boston University.

At age 24, Pratt was scouted for the brand new All-American Girls Professional Baseball League. She played ball for five years, returned to Quincy and was passionate about teaching physical educationfor 48 years, including three in Braintree and 42 in Quincy.

She became a passionate fighterfor new opportunities for women in sports and more leadership positions.

When Pratt was in her 90s, she moved to 1000 Southern Artery senior housing in Quincy. Herneighbors included some of her former students who knew her as their gym teacher in grade school.Helen Colette, 80, was walking through the lounge one day when she spotted that familiar face from the past.Colette was standing with her hands in her pockets when Mary sized her up and said approvingly, Look at her, standing so tall and nice and straight. Her shoulders match her hips and her hips match her ankles.

Another effervescent phenom was Agnes Mullay of Quincy, who died in Aprilthree weeks after her 108th birthday at Alliance Health at Marina Bay Nursing Center. She hadloved to sit in the lobby and greet people.At 4-foot-8, she was a tiny woman with a rich chuckle and sparkling smile.

A less visible but equally large loss was that of Shirley Bartlett of Weymouth, who was 93, had survived COVID, recovered and then died last summer.Shirley had a large circle of friends, was an aunt, great-aunt, and great-great-aunt to many nieces and nephews. She belonged to the Weymouth Newcomers Club, the Castle Island Association,participated in choral groups and line dancing and sang at nursing homes.

It is such aprivilege to have met and interviewed these and other South Shore elders and to have heard their stories. They have shared their secrets and ways of adjusting to long life with wisdom and a positiveperspective.They remain present in our memories,their achievements and their stories.

In the weeks ahead, we'll catch up with others who continue to lead the way in longevity.

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A Good Age: Auld lang syne to the eldest who inspired and entertained us - The Patriot Ledger