Randi Hagerman When I visited Ricaurte, Colombia, in 2016, I was surrounded by men with long faces and prominent ears. As we spoke, they would ask repetitive questions while mumbling and failing to maintain eye contact, and when they shook my hand, they turned their body away from me. They were interested in me but were too shy to interact. This type of anxiety-related approach-withdrawal behavior is typical of those with fragile X syndrome (FXS), a well-characterized genetic disease that is the most common inherited form of intellectual disability and the most common single-gene cause of autism. Even many of the Ricaurte women, who usually have at least one good copy of the X chromosome, showed similar social deficits. I had never seen so many individuals with FXS all together. I thought to myself: This is ground zero for FXS. Likely because the founding families of this small village had one or more carriers of the causative mutation, Ricaurte has the highest known prevalence of FXS in the world. Last year, our team published the results of genetic testing of almost all of the inhabitants in this village. We found that nearly 5 percent of male and more than 3 percent of female inhabitants of Ricaurte have FXS,1 compared to around 0.02 percent of people living in the US and in Europe. In Ricaurte, the residents are supportive of these individuals, who work in the community and are well accepted. Their behavior does not seem unusual to those living in the village. Relatives who have moved away from Ricaurte and then subsequently have had a child with FXS will move back to this town for the acceptance and support they find there. This pattern further enhances the genetic cluster of FXS-causing mutations in this area. © 1986–2019 The Scientist.

Keyword: Development of the Brain; Epigenetics
Link ID: 26582 - Posted: 09.06.2019

By Lena H. Sun State and federal health officials investigating mysterious lung illnesses linked to vaping have found the same chemical in samples of marijuana products used by people sickened in different parts of the country and who used different brands of products in recent weeks. The chemical is an oil derived from vitamin E. Investigators at the U.S. Food and Drug Administration found the oil in cannabis products in samples collected from patients who fell ill across the United States. FDA officials shared that information with state health officials during a telephone briefing this week, according to several officials who took part in the call. That same chemical was also found in nearly all cannabis samples from patients who fell ill in New York in recent weeks, a state health department spokeswoman said. While this is the first common element found in samples from across the country, health officials said it is too early to know whether this is causing the injuries. Vitamin E is found naturally in certain foods, such as canola oil, olive oil and almonds. The oil derived from the vitamin, known as vitamin E acetate, is commonly available as a nutritional supplement and is used in topical skin treatments. It is not known to cause harm when ingested as a vitamin supplement or applied to the skin. Its name sounds harmless, experts said, but its molecular structure could make it hazardous when inhaled. Its oil-like properties could be associated with the kinds of respiratory symptoms that many patients have reported: cough, shortness of breath and chest pain, officials said. “We knew from earlier testing by New York that they had found vitamin E acetate, but to have FDA talk about it from their overall testing plan, that was the most remarkable thing that we heard,” said one official who listened to the briefing but was not authorized to speak publicly. © 1996-2019 The Washington Post

Keyword: Drug Abuse
Link ID: 26581 - Posted: 09.06.2019

By Benedict Carey The announcement on Wednesday that Johns Hopkins Medicine was starting a new center to study psychedelic drugs for mental disorders was the latest chapter in a decades-long push by health nonprofits and wealthy donors to shake up psychiatry from the outside, bypassing the usual channels. “Psychiatry is one of the most conservative specialties in medicine,” said David Nichols, a medicinal chemist who founded the Heffter Research Institute in 1993 to fund psychedelic research. “We haven’t really had new drugs for years, and the drug industry has quit the field because they don’t have new targets” in the brain. “The field was basically stagnant, and we needed to try something different.” The fund-raising for the new Hopkins center was largely driven by the author and investor Tim Ferriss, who said in a telephone interview that he had put aside most of his other projects to advance psychedelic medicine. “It’s important to me for macro reasons but also deeply personal ones,” Mr. Ferriss, 42, said. “I grew up on Long Island, and I lost my best friend to a fentanyl overdose. I have treatment-resistant depression and bipolar disorder in my family. And addiction. It became clear to me that you can do a lot in this field with very little money.” Mr. Ferriss provided funds for a similar center at Imperial College London, which was introduced in April, and for individual research projects at the University of San Francisco, California, testing psilocybin as an aide to therapy for distress in long-term AIDS patients. Experiments using ecstasy and LSD, for end-of-life care, were underway by the mid-2000s. Soon, therapists began conducting trials of ecstasy for post-traumatic stress, with promising results. One of the most influential scientific reports appeared in 2006: a test of the effects of a strong dose of psilocybin on healthy adults. In that study, a team led by Roland Griffiths at Johns Hopkins found that the volunteers “rated the psilocybin experience as having substantial personal meaning and spiritual significance and attributed to the experience sustained positive changes in attitudes and behavior.” © 2019 The New York Times Company

Keyword: Drug Abuse; Depression
Link ID: 26580 - Posted: 09.06.2019

Alison Abbott A small clinical study in California has suggested for the first time that it might be possible to reverse the body’s epigenetic clock, which measures a person’s biological age. For one year, nine healthy volunteers took a cocktail of three common drugs — growth hormone and two diabetes medications — and on average shed 2.5 years of their biological ages, measured by analysing marks on a person’s genomes. The participants’ immune systems also showed signs of rejuvenation. The results were a surprise even to the trial organizers — but researchers caution that the findings are preliminary because the trial was small and did not include a control arm. “I’d expected to see slowing down of the clock, but not a reversal,” says geneticist Steve Horvath at the University of California, Los Angeles, who conducted the epigenetic analysis. “That felt kind of futuristic.” The findings were published on 5 September in Aging Cell. “It may be that there is an effect,” says cell biologist Wolfgang Wagner at the University of Aachen in Germany. “But the results are not rock solid because the study is very small and not well controlled.” Marks of life The epigenetic clock relies on the body’s epigenome, which comprises chemical modifications, such as methyl groups, that tag DNA. The pattern of these tags changes during the course of life, and tracks a person’s biological age, which can lag behind or exceed chronological age. © 2019 Springer Nature Publishing AG

Keyword: Development of the Brain; Epigenetics
Link ID: 26579 - Posted: 09.06.2019

The children of women who experience severe stress when pregnant are nearly 10 times more likely to develop a personality disorder by the age of 30, a study suggests. Even moderate prolonged stress may have an impact on child development and continue after a baby's birth, it said. More than 3,600 pregnant women in Finland were asked about their stress levels, and their children followed up. Psychiatrists say mums-to-be must have access to mental health support. Other important factors, such as how children are brought up, the family's financial situation and trauma experienced during childhood, are known to contribute to the development of personality disorders and could have played a role. What is a personality disorder? It means that certain aspects of someone's personality make life difficult for them and for other people. They can be overly anxious or emotionally unstable, for example, or paranoid or anti-social - there are a wide range of types. Personality disorders are thought to affect about one in 20 people. They are more likely to have other mental health problems, such as depression, or drug and alcohol problems. Like other mental disorders, upbringing, brain problems and genes can play a part in their development. What did the study do? Every month during pregnancy, the study - in the British Journal of Psychiatry - asked women to answer questions about their mental stress levels. They had to say if they had notable stress, some stress or no stress. The women lived around Helsinki, Finland, and their babies were born between 1975 and 1976. When those children turned 30, any diagnoses of personality disorder were noted - there were 40 in total, which were all severe cases involving admission to hospital. © 2019 BBC

Keyword: Stress; Development of the Brain
Link ID: 26578 - Posted: 09.06.2019

By Benedict Carey Since childhood, Rachael Petersen had lived with an unexplainable sense of grief that no drug or talk therapy could entirely ease. So in 2017 she volunteered for a small clinical trial at Johns Hopkins University that was testing psilocybin, the active ingredient in magic mushrooms, for chronic depression. “I was so depressed,” Ms. Petersen, 29, said recently. “I felt that the world had abandoned me, that I’d lost the right to exist on this planet. Really, it was like my thoughts were so stuck, I felt isolated.” The prospect of tripping for hours on a heavy dose of psychedelics was scary, she said, but the reality was profoundly different: “I experienced this kind of unity, of resonant love, the sense that I’m not alone anymore, that there was this thing holding me that was bigger than my grief. I felt welcomed back to the world.” On Wednesday, Johns Hopkins Medicine announced the launch of the Center for Psychedelic and Consciousness Research, to study compounds like LSD and psilocybin for a range of mental health problems, including anorexia, addiction and depression. The center is the first of its kind in the country, established with $17 million in commitments from wealthy private donors and a foundation. Imperial College London launched what is thought to be the world’s first such center in April, with some $3.5 million from private sources. “This is an exciting initiative that brings new focus to efforts to learn about mind, brain and psychiatric disorders by studying the effects of psychedelic drugs,” Dr. John Krystal, chair of psychiatry at Yale University, said in an email about the Johns Hopkins center. The centers at Johns Hopkins and Imperial College give “psychedelic medicine,” as some call it, a long-sought foothold in the scientific establishment. Since the early 2000s, several scientists have been exploring the potential of psychedelics and other recreational drugs for psychiatric problems, and their early reports have been tantalizing enough to generate a stream of positive headlines and at least two popular books. The emergence of depression treatment with the anesthetic and club drug ketamine and related compounds, which cause out-of-body sensations, also has piqued interest in mind-altering agents as aids to therapy. © 2019 The New York Times Company

Keyword: Depression; Drug Abuse
Link ID: 26577 - Posted: 09.05.2019

By Catherine Matacic Italians are some of the fastest speakers on the planet, chattering at up to nine syllables per second. Many Germans, on the other hand, are slow enunciators, delivering five to six syllables in the same amount of time. Yet in any given minute, Italians and Germans convey roughly the same amount of information, according to a new study. Indeed, no matter how fast or slowly languages are spoken, they tend to transmit information at about the same rate: 39 bits per second, about twice the speed of Morse code. “This is pretty solid stuff,” says Bart de Boer, an evolutionary linguist who studies speech production at the Free University of Brussels, but was not involved in the work. Language lovers have long suspected that information-heavy languages—those that pack more information about tense, gender, and speaker into smaller units, for example—move slowly to make up for their density of information, he says, whereas information-light languages such as Italian can gallop along at a much faster pace. But until now, no one had the data to prove it. Scientists started with written texts from 17 languages, including English, Italian, Japanese, and Vietnamese. They calculated the information density of each language in bits—the same unit that describes how quickly your cellphone, laptop, or computer modem transmits information. They found that Japanese, which has only 643 syllables, had an information density of about 5 bits per syllable, whereas English, with its 6949 syllables, had a density of just over 7 bits per syllable. Vietnamese, with its complex system of six tones (each of which can further differentiate a syllable), topped the charts at 8 bits per syllable. © 2019 American Association for the Advancement of Science

Keyword: Language
Link ID: 26576 - Posted: 09.05.2019

By James Gallagher Health and science correspondent, BBC News Scientists have found the first genetic instructions hardwired into human DNA that are linked to being left-handed. The instructions also seem to be heavily involved in the structure and function of the brain - particularly the parts involved in language. The team at the University of Oxford say left-handed people may have better verbal skills as a result. But many mysteries remain regarding the connection between brain development and the dominant hand. What does this tell us? About one in 10 people is left handed. Studies on twins have already revealed genetics - the DNA inherited from parents - has some role to play. However, the specifics are only now being revealed. The research team turned to the UK Biobank - a study of about 400,000 people who had the full sequence of their genetic code, their DNA, recorded. Just over 38,000 were left-handed. And the scientists played a giant game of spot-the-difference to find the regions of their DNA that influenced left-handedness. The study, published in the journal Brain, found four hotspots. "It tells us for the first time that handedness has a genetic component," Prof Gwenaëlle Douaud, one of the researchers, told BBC News. But how does it work? The mutations were in instructions for the intricate "scaffolding" that organises the inside of the body's cells, called the cytoskeleton. Similar mutations that change the cytoskeleton in snails have been shown to lead to the molluscs having an anticlockwise or "lefty" shell. © 2019 BBC

Keyword: Laterality; Genes & Behavior
Link ID: 26575 - Posted: 09.05.2019

by Nicholette Zeliadt Problems with protein-filled parcels called exosomes contribute to Rett syndrome, a condition related to autism, a new study suggests1. Exosomes traverse the blood and deliver their cargo by fusing with cells. When the cells are neurons, this triggers the birth and maturation of neurons and their connections, the new study found. Mutations linked to autism and Rett syndrome may disrupt this newly identified role of exosomes in brain development. “Maybe something about [cellular] communication, broadly across space and time — which could occur by exosomes — goes wrong in Rett syndrome and is critical for normal brain development,” says lead investigator Hollis Cline, professor of neuroscience at Scripps Research Institute in La Jolla, California. The results also point to a new treatment strategy: Exosomes from typical neurons restore the development of neurons derived from a person with Rett syndrome and their connections. The work hints at a new mechanism that contributes to Rett syndrome, says Xinyu Zhao, professor of neuroscience at the University of Wisconsin-Madison, who was not involved in the study. “I’m convinced that exosomes could be a target for [Rett] treatment.” Cline and her colleagues grew neurons from stem cells derived from a boy with a harmful mutation in MECP2 that is known to cause Rett syndrome, and from cells derived from the boy in which the mutation had been repaired. Over seven days, they added exosomes from each set of neurons to standard cultures of neurons. © 2019 Simons Foundation

Keyword: Autism
Link ID: 26574 - Posted: 09.05.2019

Nicola Davis Squirrels eavesdrop on the chatter of songbirds to work out whether the appearance of a predator is cause for alarm, researchers have found. Animals including squirrels have previously been found to tune in to cries of alarm from other creatures, while some take note of “all-clear” signals from another species with which they co-exist to assess danger. But the latest study suggests animals may also keep an ear out for everyday chitchat among other species as a way to gauge whether there is trouble afoot. “This study suggests that eavesdropping on public information about safety is more widespread and broader than we originally thought,” said Prof Keith Tarvin, co-author of the study from Oberlin College, Ohio. “It may not require tight ecological relationships that allow individuals to carefully learn the cues provided by other species,” he added, noting that the grey squirrels and songbirds in the study moved from place to place without regard for the other. Writing in the journal Plos One, Tarvin and colleagues reported on how they made their discovery by observing 67 grey squirrels as they pottered about different areas in the parks and residential regions of Oberlin. After 30 seconds of observing a squirrel, researchers played it a recording of the call of a red-tailed hawk, which lasted a couple of seconds – and their behaviour in the next 30 seconds was monitored. © 2019 Guardian News & Media Limited

Keyword: Animal Communication; Hearing
Link ID: 26573 - Posted: 09.05.2019

By Caroline Parkinson Health editor, BBC News website People who eat vegan and vegetarian diets have a lower risk of heart disease and a higher risk of stroke, a major study suggests. They had 10 fewer cases of heart disease and three more strokes per 1,000 people compared with the meat-eaters. The research, published in the British Medical Journal, looked at 48,000 people for up to 18 years. However, it cannot prove whether the effect is down to their diet or some other aspect of their lifestyle. Diet experts said, whatever people's dietary choice, eating a wide range of foods was best for their health. What does this study add? It analyses data from the EPIC-Oxford study, a major long-term research project looking at diet and health. Half of participants, recruited between 1993 and 2001, were meat-eaters, just over 16,000 vegetarian or vegan, with 7,500 who described themselves as pescatarian (fish-eating). They were asked about their diets, when they joined the study and again in 2010. Medical history, smoking and physical activity were taken into account, Altogether, there were 2,820 cases of coronary heart disease (CHD) and 1,072 cases of stroke - including 300 haemorrhagic strokes, which happen when a weakened blood vessel bursts and bleeds into the brain. The pescatarians were found to have a 13% lower risk of CHD than the meat-eaters, while the vegetarians and vegans had a 22% lower risk. But those on plant-based diets had a 20% higher risk of stroke. The researchers suggested this could be linked to low vitamin B12 levels but said more studies were needed to investigate the connection. It is also possible that the association may have nothing to do with people's diets and may just reflect other differences in the lives of people who do not eat meat. © 2019 BBC

Keyword: Stroke
Link ID: 26572 - Posted: 09.05.2019

By Emily Underwood Of the many proposed triggers for autism, one of the most controversial is the “extreme male brain” hypothesis. The idea posits that exposure to excess testosterone in the womb wires both men and women to have a hypermasculine view of the world, prioritizing stereotypically male behaviors like building machines over stereotypically female behaviors like empathizing with a friend. Now, a study is raising new doubts about this theory, finding no effect of testosterone on empathy in adult men. The work does not directly address whether high levels of prenatal testosterone cause autism or lack of empathy. That would require directly sampling the hormone in utero, which can endanger a developing fetus. But the new study’s large size—more than 600 men—makes it more convincing than similar research in the past, which included no more than a few dozen participants, experts say. The extreme male brain hypothesis was first proposed by psychologist Simon Baron-Cohen at the University of Cambridge in the United Kingdom. In 2001, he and colleagues found that women given a single hefty dose of testosterone fared significantly worse at the Reading the Mind in the Eyes test (RMET), which asked them to gauge the emotional states of others based on their facial expressions. The women’s performance seemed to track with a controversial metric called the 2D:4D ratio, the relative lengths of the second and fourth fingers. Men—and people with autism—tend to have a longer ring finger than index finger, and some researchers believe that is due to higher prenatal exposure to testosterone. (Others are skeptical.) © 2019 American Association for the Advancement of Science

Keyword: Autism; Sexual Behavior
Link ID: 26571 - Posted: 09.04.2019

Cristina Robinson, Kate Snyder, Nicole Creanza Bonjour! Ni hao! Merhaba! If you move to a new country as an adult, you have to work much harder to get past that initial “hello” in the local language than if you’d moved as a child. Why does it take so much effort to learn a new language later in life? Our human ability to learn language slows down as we get older, but scientists are not sure how or why this happens. An unexpected way to understand this learning process might come from listening to birds sing. After all, songbirds have a lot to learn. They don’t hatch knowing what songs to sing, or how to sing them. Instead, they must learn their species’ song. Young birds listen to adult birds and then practice copying the adult’s song syllables until they sound right. If they fail to learn an appropriate song, male birds will have difficulty attracting mates or defending their territories. How do birds learn to sing? This process of vocal learning is remarkably similar to how humans learn language: Babies listen to their parents speaking and then practice making the same sounds by babbling. Because these processes are so similar, birds have long been used to study vocal learning. However, while these learning processes are similar, the functions of speech and song are quite different. Human speech is complex and made up of many sounds that we use to convey an infinite number of ideas to each other. Birds only need to announce their presence to mates and rivals, yet their song can also be made of a repertoire of hundreds or thousands of unique syllables. What benefit could these more elaborate songs offer males? © 2010–2019, The Conversation US, Inc.

Keyword: Animal Communication; Language
Link ID: 26570 - Posted: 09.04.2019

By Carl Zimmer SAN DIEGO — Two hundred and fifty miles over Alysson Muotri’s head, a thousand tiny spheres of brain cells were sailing through space. The clusters, called brain organoids, had been grown a few weeks earlier in the biologist’s lab here at the University of California, San Diego. He and his colleagues altered human skin cells into stem cells, then coaxed them to develop as brain cells do in an embryo. The organoids grew into balls about the size of a pinhead, each containing hundreds of thousands of cells in a variety of types, each type producing the same chemicals and electrical signals as those cells do in our own brains. In July, NASA packed the organoids aboard a rocket and sent them to the International Space Station to see how they develop in zero gravity. Now the organoids were stowed inside a metal box, fed by bags of nutritious broth. “I think they are replicating like crazy at this stage, and so we’re going to have bigger organoids,” Dr. Muotri said in a recent interview in his office overlooking the Pacific. What, exactly, are they growing into? That’s a question that has scientists and philosophers alike scratching their heads. On Thursday, Dr. Muotri and his colleagues reported that they have recorded simple brain waves in these organoids. In mature human brains, such waves are produced by widespread networks of neurons firing in synchrony. Particular wave patterns are linked to particular forms of brain activity, like retrieving memories and dreaming. As the organoids mature, the researchers also found, the waves change in ways that resemble the changes in the developing brains of premature babies. “It’s pretty amazing,” said Giorgia Quadrato, a neurobiologist at the University of Southern California who was not involved in the new study. “No one really knew if that was possible.” © 2019 The New York Times Company

Keyword: Development of the Brain
Link ID: 26569 - Posted: 09.04.2019

Nicoletta Lanese Federal health officials issued a warning yesterday (August 29), advising pregnant mothers and teens not to use marijuana. The surgeon general cautioned that marijuana use has adverse effects on brain development in teens and fetuses and has also been linked to later alcohol and opioid addiction, according to STAT News. At a press conference, officials reported that President Donald Trump has donated $100,000 toward a digital campaign to raise awareness of the risks of marijuana use in pregnancy and adolescence, according to the Associated Press. “No amount of marijuana use during pregnancy or adolescence is safe,” says Surgeon General Jerome Adams at a press conference, reports STAT News. “As I like to say, this ain’t your mother’s marijuana,” adds Department of Health and Human Services (HHS) Secretary Alex Azar. Between 1995 and 2014, the concentration of the psychoactive compound THC in marijuana plants tripled, according to the government advisory. “The higher the THC delivery, the higher the risk,” says Adams to NPR. Meanwhile, new delivery products such as vapes, waxes, and liquids make the drug easier to consume. See “Prenatal Exposure to Cannabis Affects the Developing Brain” Medicinal marijuana has been legalized in 33 states and the District of Columbia, and 11 states have legalized the drug’s recreational use, according to STAT News. However, no states allow recreational marijuana use by teens, and minors can only use medical marijuana with consent from a legal guardian and certification from a doctor, the AP reports. © 1986–2019 The Scientist.

Keyword: Drug Abuse; Development of the Brain
Link ID: 26568 - Posted: 09.04.2019

By James Gorman When the moon hits your eye like a big pizza pie, it may not be amore at all, but a ghostly white barn owl about to kill and eat you. If you’re a vole, that is. Voles are a favorite meal for barn owls, which come in two shades, reddish brown and white. When the moon is new, both have equal success hunting for their young, snagging about five voles in a night. But when the moon is full and bright, the reddish owls do poorly, dropping to three a night. Barn owls with white faces and breasts do as well as ever, however, even though they should be more easily spotted than their reddish relatives when the lunar light reflects off their feathers. They may well be more easily seen, but it doesn’t matter because of the behavior of their prey. Voles have two responses to owl sightings. They freeze, and hope the owl doesn’t see them. Or they run. But when they see a white owl in bright moonlight, the terrified rodents act like deer caught in headlights and freeze up to five seconds longer than they do for a reddish brown barn owl. This is not what Luis M. San-Jose and Alexandre Roulin, both of the University of Lausanne in Switzerland, expected. They and other scientists reported in Nature Ecology and Evolution on Monday that they expected the white owls to do worse. “The study is a fascinating new look at an old question: How does moonlight affect the plumage of nocturnal predators?” said Richard Prum, an evolutionary biologist and ornithologist at Yale University, who has studied how coloration evolved in birds. He added that authors used “a remarkable array of technologies and methods” to investigate the effect of the variation. Dr. San-Jose, who researches animal coloration, said that there has been little study of color in nocturnal animals in the past, but that has begun to change, producing many surprises in recent years. “Many nocturnal species actually see color at night,” he said. Voles probably don’t. For them, the owls probably appear in shades of gray. Still, the lighter the shade, the more visible the owl. © 2019 The New York Times Company

Keyword: Vision; Biological Rhythms
Link ID: 26567 - Posted: 09.03.2019

By Laura Sanders Dog breeders have been shaping the way the animals look and behave for centuries. That meddling in canine evolution has sculpted dogs’ brains, too. A brain-scanning study of 62 purebred dogs representing 33 breeds reveals that dog brains are not all alike — offering a starting point for understanding how brain anatomy relates to behavior. Different breeds had different shapes of various brain regions, distinctions that were not simply the result of head shape or the size of the dogs’ brains or bodies, researchers report September 2 in the Journal of Neuroscience. Through selective breeding, “we have been systematically shaping the brains of another species,” Erin Hecht, an evolutionary neuroscientist at Harvard University, and colleagues conclude. The MRI scans were taken of dogs with normal brain anatomy at the Veterinary Teaching Hospital at the University of Georgia at Athens. While the study wasn’t designed to directly link brain shape to behavior, the results offer some hints. Researchers identified groups of brain areas, such as smell and taste regions, that showed the most variability between breeds. Those groups are involved in specialized behaviors that often serve humans, such as hunting by smell, guarding and providing companionship to people, earlier studies have suggested. © Society for Science & the Public 2000–2019

Keyword: Evolution
Link ID: 26566 - Posted: 09.03.2019

By Joanna Broder It had been two agonizing years of not knowing what was wrong with their baby who, since birth, had frequent spells of eye flickering, uncontrollable muscle contractions, pain and temporary paralysis. Simon and Nina Frost had spared no expense, taking Annabel to all the best neurologists around the country. Finally a potential diagnosis emerged: alternating hemiplegia of childhood, an ultrarare genetic disorder. The Frosts’ initial excitement at having answers quickly waned, however. They learned that, for many of the 900 or so children in the world affected by AHC, mutations in one of the genes that code for a subunit of the body’s critical sodium potassium pump interferes with the body’s ability to repeatedly fire nerve cells. In addition to Annabel’s other symptoms, difficulty breathing, choking and falling are common. They also learned that there is no effective treatment or cure, that any one of Annabel’s episodes has the potential to lead to permanent brain damage or death, and that it is hard to get information about the disease. Foundations dedicated to AHC informally recommend only four physicians in the United States as knowledgeable enough about the disorder to see patients. Of those who are closest to the Frosts, who live in Northwest D.C., one was too busy to see Annabel. There was a two-month wait to see the other one. The foundations themselves didn’t have many answers to the Frosts’ initial questions about life expectancy or what course Annabel’s disease might take. The Frosts discovered that relatively few scientists and clinicians study AHC, and their focus seemed to be basic research and not developing a therapy. © 1996-2019 The Washington Post

Keyword: Movement Disorders
Link ID: 26565 - Posted: 09.03.2019

David Cyranoski A Japanese woman in her forties has become the first person in the world to have her cornea repaired using reprogrammed stem cells. At a press conference on 29 August, ophthalmologist Kohji Nishida from Osaka University, Japan, said the woman has a disease in which the stem cells that repair the cornea, a transparent layer that covers and protects the eye, are lost. The condition makes vision blurry and can lead to blindness. How iPS cells changed the world To treat the woman, Nishida says his team created sheets of corneal cells from induced pluripotent stem (iPS) cells. These are made by reprogramming adult skin cells from a donor into an embryonic-like state from which they can transform into other cell types, such as corneal cells. Nishida said that the woman’s cornea remained clear and her vision had improved since the transplant a month ago. Currently people with damaged or diseased corneas are generally treated using tissue from donors who have died, but there is a long waiting list for such tissue in Japan. Japan has been ahead of the curve in approving the clinical use of iPS cells, which were discovered by stem-cell biologist Shinya Yamanaka at Kyoto University, who won a Nobel prize for the work. Japanese physicians have also used iPS cells to treat spinal cord injury, Parkinson’s disease and another eye disease. © 2019 Springer Nature Publishing AG

Keyword: Vision; Stem Cells
Link ID: 26564 - Posted: 09.03.2019

By Michelle Roberts Health editor, BBC News online Experts are warning about the risks of extreme fussy eating after a teenager developed permanent sight loss after living on a diet of chips and crisps. Eye doctors in Bristol cared for the 17-year-old after his vision had deteriorated to the point of blindness. Since leaving primary school, the teen had been eating only French fries, Pringles and white bread, as well as an occasional slice of ham or a sausage. Tests revealed he had severe vitamin deficiencies and malnutrition damage. Extreme picky eater The adolescent, who cannot be named, had seen his GP at the age of 14 because he had been feeling tired and unwell. At that time he was diagnosed with vitamin B12 deficiency and put on supplements, but he did not stick with the treatment or improve his poor diet. Three years later, he was taken to the Bristol Eye Hospital because of progressive sight loss, Annals of Internal Medicine journal reports. Dr Denize Atan, who treated him at the hospital, said: "His diet was essentially a portion of chips from the local fish and chip shop every day. He also used to snack on crisps - Pringles - and sometimes slices of white bread and occasional slices of ham, and not really any fruit and vegetables. "He explained this as an aversion to certain textures of food that he really could not tolerate, and so chips and crisps were really the only types of food that he wanted and felt that he could eat." Dr Atan and her colleagues rechecked the young man's vitamin levels and found he was low in B12 as well as some other important vitamins and minerals - copper, selenium and vitamin D. He was not over or underweight, but was severely malnourished from his eating disorder - avoidant-restrictive food intake disorder. "He had lost minerals from his bone, which was really quite shocking for a boy of his age." He was put on vitamin supplements and referred to a dietitian and a specialist mental health team. In terms of his sight loss, he met the criteria for being registered blind. "He had blind spots right in the middle of his vision," said Dr Atan. "That means he can't drive and would find it really difficult to read, watch TV or discern faces. © 2019 BBC.

Keyword: Vision
Link ID: 26563 - Posted: 09.03.2019