The oldest confirmed case of Down's syndrome has been found: the skeleton of a child who died 1500 years ago in early medieval France. According to the archaeologists, the way the child was buried hints that Down's syndrome was not necessarily stigmatized in the Middle Ages.
Down's syndrome is a genetic disorder that delays a person's growth and causes intellectual disability. People with Down's syndrome have three copies of chromosome 21, rather than the usual two. It was described in the 19th century, but has probably existed throughout human history. However there are few cases of Down's syndrome in the archaeological record.
The new example comes from a 5th- and 6th-century necropolis near a church in Chalon-sur-Saône in eastern France. Excavations there have uncovered the remains of 94 people, including the skeleton of a young child with a short and broad skull, a flattened skull base and thin cranial bones. These features are common in people with Down's syndrome, says Maïté Rivollat at the University of Bordeaux in France, who has studied the skeleton with her colleagues.
"I think the paper makes a convincing case for a diagnosis of Down's syndrome," says John Starbuck at Indiana University in Indianapolis. He has just analyzed a 1500-year-old figurine from the Mexican Tolteca culture that he says depicts someone with Down's syndrome.
A similar argument was put forward in a 2011 study that described the 1500-year-old burial in Israel of a man with dwarfism (International Journal of Osteoarchaeology, DOI: 10.1002/oa.1285). The body was buried in a similar manner to others at the site, and archaeologists took that as indicating that the man was treated as a normal member of society.
By switching off a single gene, scientists have converted human gastrointestinal cells into insulin-producing cells, demonstrating in principle that a drug could retrain cells inside a person’s GI tract to produce insulin. The finding raises the possibility that cells lost in type 1 diabetes may be more easily replaced through the reeducation of existing cells than through the transplantation of new cells created from embryonic or adult stem cells. The new research was reported in the online issue of the journal Nature Communications.
"People have been talking about turning one cell into another for a long time, but until now we hadn't gotten to the point of creating a fully functional insulin-producing cell by the manipulation of a single target," said the study's senior author, Domenico Accili, MD, the Russell Berrie Foundation Professor of Diabetes (in Medicine) at Columbia University Medical Center (CUMC).
The finding raises the possibility that cells lost in type 1 diabetes may be more easily replaced through the reeducation of existing cells than through the transplantation of new cells created from embryonic or adult stem cells.
For nearly two decades, researchers have been trying to make surrogate insulin-producing cells for type 1 diabetes patients. In type 1 diabetes, the body's natural insulin-producing cells are destroyed by the immune system.
Although insulin-producing cells can now be made in the lab from stem cells, these cells do not yet have all the functions of naturally occurring pancreatic beta cells.
This has led some researchers to try instead to transform existing cells in a patient into insulin-producers. Previous work by Dr. Accili's lab had shown that mouse intestinal cells can be transformed into insulin-producing cells; the current Columbia study shows that this technique also works in human cells.
The Columbia researchers were able to teach human gut cells to make insulin in response to physiological circumstances by deactivating the cells' FOXO1 gene. Accili and postdoctoral fellow Ryotaro Bouchi first created a tissue model of the human intestine with human pluripotent stem cells. Through genetic engineering, they then deactivated any functioning FOXO1 inside the intestinal cells. After seven days, some of the cells started releasing insulin and, equally important, only in response to glucose.
The team had used a comparable approach in its earlier, mouse study. In the mice, insulin made by gut cells was released into the bloodstream, worked like normal insulin, and was able to nearly normalize blood glucose levels in otherwise diabetic mice: New Approach to Treating Type I Diabetes? Columbia Scientists Transform Gut Cells into Insulin Factories. That work, which was reported in 2012 in the journal Nature Genetics, has since received independent confirmation from another group.
In two random-order, crossover studies with similar but distinct designs, we compared glycemic control with a wearable, bihormonal, automated, “bionic” pancreas (bionic-pancreas period) with glycemic control with an insulin pump (control period) for 5 days in 20 adults and 32 adolescents with type 1 diabetes mellitus. The automatically adaptive algorithm of the bionic pancreas received data from a continuous glucose monitor to control subcutaneous delivery of insulin and glucagon.
Among the adults, the mean plasma glucose level over the 5-day bionic-pancreas period was 138 mg per deciliter (7.7 mmol per liter), and the mean percentage of time with a low glucose level (<70 mg per deciliter [3.9 mmol per liter]) was 4.8%. After 1 day of automatic adaptation by the bionic pancreas, the mean (±SD) glucose level on continuous monitoring was lower than the mean level during the control period (133±13 vs. 159±30 mg per deciliter [7.4±0.7 vs. 8.8±1.7 mmol per liter], P<0.001) and the percentage of time with a low glucose reading was lower (4.1% vs. 7.3%, P=0.01). Among the adolescents, the mean plasma glucose level was also lower during the bionic-pancreas period than during the control period (138±18 vs. 157±27 mg per deciliter [7.7±1.0 vs. 8.7±1.5 mmol per liter], P=0.004), but the percentage of time with a low plasma glucose reading was similar during the two periods (6.1% and 7.6%, respectively; P=0.23). The mean frequency of interventions for hypoglycemia among the adolescents was lower during the bionic-pancreas period than during the control period (one per 1.6 days vs. one per 0.8 days, P<0.001)
As compared with an insulin pump, a wearable, automated, bihormonal, bionic pancreas improved mean glycemic levels, with less frequent hypoglycemic episodes, among both adults and adolescents with type 1 diabetes mellitus. (Funded by the National Institute of Diabetes and Digestive and Kidney Diseases and others; ClinicalTrials.gov numbers, NCT01762059 and NCT01833988.)
A rare occurrence in the earliest days of a pregnancy produces an unusual and mystifying outcome: Identical twin fetuses are conceived of the same meeting of egg and sperm. And despite their shared DNA, one of the twins has Down syndrome (the most common genetic cause of intellectual impairment), but the other does not.
But these aborted identical twins -- one with an extra copy of chromosome 21 and the other without -- offered scientists a remarkable opportunity: given the twin fetuses' otherwise exact DNA match, how would this one difference translate across the genome?
That natural experiment allowed a group of geneticists from Switzerland, Spain, the Netherlands and France to distill some fundamental insights into how chromosomes -- and the genetic blueprints they contain -- dictate the behavior of cells across the body. They found that when gene expression is altered by, say, an added chromosome, it is altered in consistent patterns in every chromosome, not just the one with the irregularity.
A few things follow from that: First, it lends credence to scientists' long-running suspicion that chromosomes -- between 50 and 100 base pairs of DNA -- may be organized along functional lines, such that certain stretches of a chromosome may hold the genetic blueprint for proteins that work together in some predictable way. If they are organized functionally, they're not random. And if they're not random, they can (someday) be understood.
Trisomy 21 is the most frequent genetic cause of cognitive impairment. To assess the perturbations of gene expression in trisomy 21, and to eliminate the noise of genomic variability, we studied the transcriptome of fetal fibroblasts from a pair of monozygotic twins discordant for trisomy 21. Here we show that the differential expression between the twins is organized in domains along all chromosomes that are either upregulated or downregulated. These gene expression dysregulation domains (GEDDs) can be defined by the expression level of their gene content, and are well conserved in induced pluripotent stem cells derived from the twins’ fibroblasts. Comparison of the transcriptome of the Ts65Dn mouse model of Down’s syndrome and normal littermate mouse fibroblasts also showed GEDDs along the mouse chromosomes that were syntenic in human. The GEDDs correlate with the lamina-associated (LADs) and replication domains of mammalian cells. The overall position of LADs was not altered in trisomic cells; however, the H3K4me3 profile of the trisomic fibroblasts was modified and accurately followed the GEDD pattern. These results indicate that the nuclear compartments of trisomic cells undergo modifications of the chromatin environment influencing the overall transcriptome, and that GEDDs may therefore contribute to some trisomy 21 phenotypes.
Ebola is one of the scariest viruses on Earth. Along with Marburg and a few other lesser known viruses, it is a member of the Filoviridae family, a nasty group of microbes that causes hemorrhagic fever. Like most viral diseases, patients with hemorrhagic fever will first present with flu-like symptoms. As the disease progresses, patients often bleed from their body orifices, such as their eyes and ears. Death, however, does not result from blood loss, but from shock or organ failure.
Hemorrhagic fevers are not easy to catch. Transmission generally requires prolonged contact with the patient or with his bodily fluids. Mortality rates depend on the particular viral strain. For Ebola, thedeadliest strain is Zaire, which can kill up to 90% of those infected. The worst ever outbreak occurred in Congo in 1976. That year, 318 people were infected and 280 died, a mortality rate of 88%. Currently, an outbreak of Ebola has killed at least 135 people in west Africa. The virus resembles Zaire, but researchers have determined that it is a brand new strain.
Obviously, finding a treatment or cure for such a frightening disease is desirable. With our highly interconnected world, it is only a matter of time before a hemorrhagic fever shows up on our doorstep. (Actually,that's already happened.) Unfortunately, at the present time, there is little that can be done for a victim of Ebola or any other hemorrhagic fever. Mostly, patients are kept hydrated and symptoms are treated as they arise. Other than that, doctors cross their fingers and hope the patient doesn't die.
That may be about to change. In the journal Nature, scientists -- who conducted much of their work in the secretive, high-containment biological laboratory maintained by USAMRIID at Fort Detrick, Maryland -- have reported the discovery of a small molecule that rescues rodents and monkeys from various hemorrhagic fevers. Even more, the drug exhibited activity against a wide range of viruses.
The molecule, named BCX4430, resembles the "A" found in DNA: adenosine. The RNA-based filoviruses also use "A" in their genomes. BCX4430, because it resembles "A", can be accidentally used by the virus when it is trying to grow inside of our cells. For the virus, this is a fatal mistake. BCX4430 blocks further growth and reproduction.
Shouldn't this drug be expected to hurt not only the virus, but humans as well? That would be a reasonable expectation, but for some reason, BCX4430 appears to only hurt the virus. Human cells appear not to be fooled by BCX4430 and do just fine in its presence. The most compelling experiment the research team ran involved the infection of cynomolgus macaque monkeys with deadly Marburg virus. Macaques were given twice daily doses of BCX4430 for 14 days beginning 1 hour, 24 hours, or 48 hours post-infection.
Amazingly, in vitro experiments showed that BCX4430 could potentially work against a wide range of viruses, including SARS, MERS, influenza, dengue, and measles.
Source: TK Warren et al. "Protection against filovirus diseases by a novel broad-spectrum nucleoside analogue BCX4430." Nature 508: 402-405 (2014). doi:10.1038/nature13027
Scientists at the Massachusetts Institute of Technology are developing an audio reading device to be worn on the index finger of people whose vision is impaired, giving them affordable and immediate access to printed words.
The so-called FingerReader, a prototype produced by a 3-D printer, fits like a ring on the user’s finger, equipped with a small camera that scans text. A synthesized voice reads words aloud, quickly translating books, restaurant menus and other needed materials for daily living, especially away from home or office.
Reading is as easy as pointing the finger at text. Special software tracks the finger movement, identifies words and processes the information. The device has vibration motors that alert readers when they stray from the script, said Roy Shilkrot, who is developing the device at the MIT Media Lab.
For Jerry Berrier, 62, who was born blind, the promise of the FingerReader is its portability and offer of real-time functionality at school, a doctor’s office and restaurants.
“When I go to the doctor’s office, there may be forms that I wanna read before I sign them,” Berrier said.
He said there are other optical character recognition devices on the market for those with vision impairments, but none that he knows of that will read in real time.
Astronomers have witnessed a triplet of monster black holes swirling in the center of a distant galaxy, a new study says.
Astronomers have learned over the past decade or two that virtually every full-size galaxy such as our own Milky Way has a giant black hole lurking in its core. These monsters weigh in with a mass equal to millions or even billions of stars.
The new observations, however, described in the journal Nature, suggest that many galaxies have not one, but two or more giant black holes in their centers, orbiting each other in a tight gravitational dance that will ultimately lead the objects to merge together into something even more gigantic.
Watching these mergers will offer insight into how gravity behaves when stretched to its limits, astronomers predict, with clues revealed by monster black hole mash-ups such as the just-discovered triplet.
"We were quite surprised to find it," says Roger Deane, of the University of Cape Town in South Africa, lead author of the report. In one sense, Deane and his colleagues shouldn't have been surprised. It's widely accepted that when galaxies come close together, their gravity can force them to form a single agglomeration of stars. In fact, the Milky Way and the (relatively) nearby Andromeda galaxy will probably experience such a merger in about four billion years. Since each galaxy hosts a single massive black hole, the resulting single galaxy should end up with two.
Deane and his group originally became interested in this particular galaxy, known by the unwieldy name SDSS J150243.091111557.3, because it had been flagged by the Sloan Digital Sky Survey (thus the "SDSS" in the name) as having what looked like two sources of bright light in its core.
That indicated the possibility of two black holes there, with the light coming not from the invisible objects themselves but from the whirlpools of gas heated to incandescence as they spiral in under the black holes' intense gravity. Jets emitted by the black holes pinpointed their location.
International research involving the University of Adelaide has shown for the first time that poor nutrition, including a lack of fruit, vegetables and whole grains, is associated with the development of several chronic diseases over time.
Oxford University researchers have developed a simple and quick MRI technique that offers promise for early diagnosis of Parkinson's disease.
The new MRI approach can detect people who have early-stage Parkinson's disease with 85% accuracy, according to research published in Neurology, the medical journal of the American Academy of Neurology.
'At the moment we have no way to predict who is at risk of Parkinson's disease in the vast majority of cases,' says Dr Clare Mackay of the Department of Psychiatry at Oxford University, one of the joint lead researchers. 'We are excited that this MRI technique might prove to be a good marker for the earliest signs of Parkinson's. The results are very promising.'
Claire Bale, research communications manager at Parkinson's UK, which funded the work, explains: 'This new research takes us one step closer to diagnosing Parkinson's at a much earlier stage – one of the biggest challenges facing research into the condition. By using a new, simple scanning technique the team at Oxford University have been able to study levels of activity in the brain which may suggest that Parkinson's is present. One person every hour is diagnosed with Parkinson's in the UK, and we hope that the researchers are able to continue to refine their test so that it can one day be part of clinical practice.'
Parkinson's disease is characterised by tremor, slow movement, and stiff and inflexible muscles. It's thought to affect around 1 in 500 people. There is currently no cure for the disease, although there are treatments that can reduce symptoms and maintain quality of life for as long as possible.
Parkinson's disease is caused by the progressive loss of a particular set of nerve cells in the brain, but this damage to nerve cells will have been going on for a long time before symptoms become apparent.
Conventional MRI cannot detect early signs of Parkinson's, so the Oxford researchers used an MRI technique, called resting-state fMRI, in which people are simply required to stay still in the scanner. They used the MRI data to look at the 'connectivity', or strength of brain networks, in the basal ganglia – part of the brain known to be involved in Parkinson's disease.
When scientists transplanted human neural stem cells into mice with multiple sclerosis (MS), within a remarkably short period of time, 10 to 14 days, the mice had regained motor skills.
Six months later, they showed no signs of slowing down.
Results from the study demonstrate that the mice experience at least a partial reversal of symptoms. Immune attacks are blunted, and the damaged myelin is repaired, explaining their dramatic recovery.
The finding, which uncovers potential new avenues for treating MS, was published May 15, 2014 in the journal Stem Cell Reports (open access).
How they did it: Ronald Coleman (a graduate student of Jeanne Loring, Ph.D., co-senior author and director of the Center for Regenerative Medicine at The Scripps Research Institute and co-first author on the publication) changed the normal protocol and grew the neural stem cells so they were less crowded on a Petri dish than usual.
That yielded a human neural stem cell type that turned out to be extremely potent. The experiments have since been successfully repeated with cells produced under the same conditions, but by different laboratories.
The human neural stem cells send chemical signals that instruct the mouse’s own cells to repair the damage caused by MS. Experiments by Lane’s team suggest that TGF-beta proteins comprise one type of signal, but there are likely others. This realization has important implications for translating the work to clinical trials in the future.
“Rather than having to engraft stem cells into a patient, which can be challenging from a medical standpoint, we might be able to develop a drug that can be used to deliver the therapy much more easily,” said Tom Lane, Ph.D., a professor of pathology at the University of Utah.
With clinical trials as the long-term goal, the next steps are to assess the durability and safety of the stem cell therapy in mice. “We want to try to move as quickly and carefully as possible,” he said. “I would love to see something that could promote repair and ease the burden that patients with MS have.”
“The aspect I am most interested is to define what is being secreted from the human cells that influence demyelination,” Lane told KurzweilAI in an email interview. “Other studies have shown either effects on neuroinflammation or demyelination; ours is one of a select few to show that stem cells influence both.”
However, it is too soon to say when can we expect this innovation to be available for MS patients, Lane added.
Universal design is a means of allowing residents of all ability levels to live and function independently. I wish that more architects would embrace the concept so that individuals with disabilities would have a greater access to independent housing.
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