Publishing the results in the journal Science, Rogaev notes that Victoria and her descendants suffered from a rare and severe form of hemophilia B, or Christmas disease. Using multiplex target amplification and parallel sequencing, Rogaev and his colleagues noticed a mutation on the F9 gene on the X chromosome, which controls the blood clotting agent, Factor IX, and can alter RNA splicing. This mutation matches those found in hemophilia B. Women generally only carry the mutation on one of their X chromosomes, meaning they rarely suffer from the disease and most often pass it on to their male descendants. Those male descendants do suffer from the disease, because it expresses itself on their only X chromosome.

The researchers have a more practical perspective than the experts who pioneered The Twinkie Defense. “Our favoured explanation is that giving children sweets and chocolate regularly may stop them learning how to wait to obtain something they want. Not being able to defer gratification may push them towards more impulsive behaviour, which is strongly associated with delinquency,” Moore says.

Co-author Gerard Liger-Belair of Reims University in France said his obsession with champagne bubbles led to this research. “As champagne or sparkling wine is poured into a glass, the myriad of ascending bubbles collapse and radiate a multitude of tiny droplets above the free surface into the form of very characteristic and refreshing aerosols,” the researchers wrote in the paper (which is one of the most eloquently written research papers I have read).

Using an ultra-high resolution mass spectrometer, Linger-Belair and his colleagues examined the chemical makeup of the aerosols, which bubble up in champagnes. In every case, the researchers learned that the bubbles had a denser concentration of flavors. He urges drinkers to use champagne flutes when imbibing, as the stemware promotes bubbles.

“It seems that the traditional champagne method ensures that there is a fine stream of bubbles, which, presumably, will give you a more enduring aromatic lift,” Liger-Belair told the BBC.

XLNT news for teachers and parents and a reason for kids to LOL. Despite rumors that texting causes children to be poor spellers, a new study from researchers at the University of Alberta showed that commonly used instant messaging language—otherwise known as simple messaging service (SMS)—doesn’t impact a child’s spelling. Poor spellers remain poor spellers and good spellers remain good spellers.

Connie Varnhagen and her colleagues surveyed about 40 students aged 12 to 17. The researchers asked them to save their instant messages for a week. At the end of the week, all the students took a standardized spelling exam.

“Kids who are good spellers [academically] are good spellers in instant messaging,” Varnhagen said. “And kids who are poor spellers in English class are poor spellers in instant messaging.”

The researchers learned that texting varied by sex. Girls were more likely to use SMS to communicate, and boys used repeated punctuation to express emotions (awesome!!!!). Boys who frequently used abbreviations tended to be poorer spellers, while girls who did the same were better spellers than girls who did not shorten words in texts. The large and evolving SMS lexicon also impressed researchers. They admitted they often had to look up abbreviations in online dictionaries or ask younger people to define some abbreviations.

See Also: Why Text Messages Are Only 160 Characters

(Photo courtesy of Flickr user semarr, used via Creative Commons license.)

The researchers do not understand how alcohol lessens the severity of brain injuries and protects patients from death. “The sociologic implications are important and have been raised previously,” the authors wrote in the Archives of Surgery. “It is important to note that we examined in-hospital mortality as our outcome measure. It is well established that alcohol contributes to nearly 40 percent of traffic fatalities, and the risk of dying is obviously increased while driving under the influence. However, the finding of reduced mortality in traumatic brain injury patients with pre-injury ethanol raises the intriguing possibility that administering ethanol to patients with brain injuries may improve outcome.”

“People who read the nonsensical story checked off more letter strings—clearly they were motivated to find structure,” Travis Proulx, a postdoctoral researcher at UCSB and co-author of the study, told the Guardian. “But what’s more important is that they were actually more accurate than those who read the more normal version of the story. They really did learn the pattern better than the other participants did.”

Proulx theorizes that those who read the original Kafka story were better able to find patterns because their brains craved structure after reading something that was seemingly absurd. He also believes that people who are experiencing identity crises would search for structured patterns in life. [Image credit.]

The Stanford researchers looked at adipose, or immature fat cells, which lie within a labyrinth of fat and collagen in our bodies. These fat cells are already expressed at higher levels and only two of the four Yamanaka genes need to be converted, which turns the fat cells into iPS almost immediately. Researchers are also excited because these cells easily convert to iPS without the aid of feeder cells, which are cells from mice that enable stem cell growth outside the body. Researchers then can reprogram iPS cells into bone, muscle, organ, or brain cells. As far as scientists know, iPS cells are the same as embryonic stem cells and will be as useful in treatments.

Scientists gave nine people GPS devices and instructed them to either walk through the woods or the desert in a straight line. Two of the three people who walked in the desert during the day walked in a straight line. The third began walking on a straight path in the evening and when the clouds covered the moon, he began walking in circles. Hikers in the forests struggled to keep a straight path. But if it were cloudy or dark, they circled around. Sometimes they repeated the same circle every 10 minutes.

Participants refused to admit they followed the same path over and over, though. “They didn’t really believe when we showed them afterwards,” Jan Souman, lead researcher, told ABC News. “I think that’s certainly a point to take away, people may feel very confident about the direction where they’re going but it’s not certain.”

Maiken Nedergaard, one of the lead researchers, had previously discovered that when a spinal injury occurs, adenosine triphosphate (ATP) floods into the area surrounding the wound. Normally, ATP benefits human cells because it keeps them alive. But in the case of an injury, the sudden influx of ATP overstimulates otherwise healthy neurons and causes them to die of metabolic stress, often creating secondary injury and more spinal cord damage. The ATP cells flock to the spine because they’re attracted to P2X7, or death receptors, found in abundance in spinal neurons.

Nedergaard and her colleagues needed a substance that would block the ATP and P2X7 from latching together. Oxidized ATP stopped the attachment, but had negative side effects. After serendipitously discovering that BBG, a P2X7R antagonist, is similar to FD&C blue dye No.1, researchers injected BBG into the rats’ blood. The dye halted the cell deaths and rats that received the injection walked again. Rats that went without the shots never regained their ability to walk.

But the researchers warn that people should not begin using caffeine supplements in the hopes to ward off Alzheimer’s. “Caffeine reverses cognitive impairment and decreases brain amyloid-β levels in aged Alzheimer’s disease mice.”

[Further reading: Journal of Alzheimer’s Disease]