Healthsifter by mary desmond pinkowish, since 2003

You've Heard of Restless Legs--But Restless Abdomen?

French researchers writing in the journal Neurology have described a condition they call restless abdomen, which seems to be associated clinically and genetically with the more familiar restless legs syndrome. Who knew? People with restless abdomen, of whom just 3 are reported in this case, experience strange gut symptoms when they try to rest. The feelings pass--or at least get better--when they move around. Strange stuff. Some of these patients also had a condition called period leg movements of sleep (which may be related to restless legs) but their guts were completely normal--at least in the imaging studies that were performed.  Pramipexole, a drug sometimes used to treat restless legs, helped these folks, all of whom also carried a gene associated with restless legs. Click here to read the summary of this study.

Have you--or someone you know--ever experienced sensations like these?

A Genetic Step Forward in Understanding Two Ghastly Neurologic Disorders

Two different groups of scientists have independently found what may be the genetic culprit associated with two neurologic disorders: amyotrophic lateral sclerosis (ALS), probably more familiar to you as Lou Gehrig's disease, and a common dementing illness called frontotemporal dementia (FTD). The teams are from the Mayo Clinic in Florida and the National Institute on Aging in Maryland. Both papers were published in the journal Neuron. (Both are available without charge at that site.)

The possibility of a genetic link between the two conditions was suggested by circumstantial evidence. The diseases share some features, and some people seem to suffer from features of both illnesses. Also, these diseases sometimes run in families, and some families seem to be afflicted with both ALS and FTD. A region of a particular chromosome got on the researchers' radar several years ago, and this week's publications from the two groups seemed to confirm that mutations in the gene C9ORF72 may be involved. While a certain pattern of repeats in this gene may occur occasionally in healthy people, hundreds or thousands of repeats were observed in people with ALS or FTD.

It's important to understand that this is an essential but small first step. The ScienceNow blog had a good post about these studies today, and they put some perspective on the road ahead. Here's an excerpt:

Still, many important questions remain. Neither team has found an explanation for why some people with C9ORF72 mutations get ALS whereas others get FTD. And it's not clear how the mutations would cause either disease. It may be that the protein encoded by C9ORF72 performs some yet-to-be-discovered essential function that gets disrupted, Traynor says. Or maybe the function of C9ORF72 doesn't matter. Another possibility, Traynor says, is that the repeated nucleotides cause a toxic buildup of messenger RNA, a key player in the cellular machinery for reading out DNA to make protein.

 

 

NFL Warns Players About Concussion Risks: Dementia, Depression

Repeated head injuries (concussions) increase the risk of dementia and depression. That's the message that will be contained in a brochure that all NFL players will get from the league this season and a poster that will be pasted on the walls of locker rooms. As the New York Times reports, the NFL is catching up with research showing that repeated concussions like those often sustained by football players at all levels have lasting effects. The NFL players are being warned to watch for headaches, confusion, memory problems, and being more emotional. The American College of Sports Medicine, a professional organization for physicians who treat athletes, published guidelines on brain injury management last year. And as ESPN reported recently, several states are looking to tighten head injury guidelines for younger players. Read a good column by John Judis at New Republic and another by Malcolm Gladwell at The New Yorker.  

Take care of the squash.

A New Class of Migraine Drugs On the Way in 2009

This is a free article from Journal Watch that includes information on a new type of migraine drug. The manufacturer may file a new drug application this year (2009). Here's an excerpt from Journal Watch:

Telcagepant is a new calcitonin gene-related peptide antagonist that lacks the vasoconstrictor effects of triptans. In a randomized, controlled, double-blind, parallel-treatment trial funded by the maker of telcagepant, 1380 adult patients (mean age, 42; 85% female) with acute migraine received one of four oral treatments: telcagepant (160 mg or 300 mg), zolmitriptan (5 mg), or placebo. The study was conducted at 81 outpatient primary care and headache centers in Europe and the U.S.

This drug and others like it may be an alternative to the triptans, which cause side effects in some people and can't be used in people with heart disease. You can read more about this new agent, which is a Merck product, here and at Medscape. 

A Physician Questions Role of "CanadaCare" in Death of Richardson

A Chicago-area physician named Cory Franklin speculates about the role that so-called CanadaCare medical care may have had in Natasha's Richardson's death. This was originally published by the Chicago Tribune and appears in today's NY Post.

"Richardson's evaluation required an immediate CT scan for diagnosis -- followed by either a complete removal of accumulated blood by a neurosurgeon or a procedure by a trauma surgeon or emergency physician to relieve the pressure and allow her to be transported.

But Sainte-Agathe-des-Monts is a town of 9,000 people. Its hospital doesn't have specialized neurology or trauma services. It hasn't been reported whether the hospital has a CT scanner, but CT scanners are less common in Canada.

Compounding the problem, Quebec has no helicopter services to trauma centers in Montreal. Richardson was transferred by ambulance to Hospital du Sacre-Coeur, a trauma center 50 miles away in Montreal -- a further delay of over an hour.

Because she didn't arrive at a facility capable of treatment (with the diagnosis perhaps still unknown) until six hours after the injury, in all likelihood by that time the pressure buildup was fatal. The Montreal hospital could not have saved her life"

Dr. Franklin was/is Director of and Professor in the Department of Medicine, Division of Critical Care Medicine, Cook County Hospital, Chicago.

The Physics of Head Injuries and Skiing

This is the best article I've seen on the physics of head injuries this week. Leave it to Jeffrey Kluger at Time.

The fact that Richardson was not wearing a helmet may or may not have made a difference in the gravity of her injury. If skiers are moving slowly — say 10 m.p.h. or slower — and they fall on soft snow, they're probably not going to be hurt severely, whether they're wearing a helmet or not. If they're moving faster than 15 or 20 m.p.h. and strike ice, hard-packed snow or another solid object with the head, they're likely to suffer severe injury, and again the presence of a helmet may not make much difference. It's in the middle area — at speeds that are neither very slow nor very fast — that a helmet can play the biggest role. The trick, of course, is that you never know when you're going to be in that gray zone, since even slow beginner skiers can lose control and speed up, and high-speed skiers have to slow down eventually. (See pictures of skiing.)

Physics makes things trickier still, causing different parts of the body to move at different speeds. Your skis or snowboard may be sliding along at a slow 10 m.p.h., but if you catch a tip or edge on something stationary, the rest of you plunges forward and accelerates. "The body acts as an inverted pendulum, so the upper body moves much faster than the lower body," says Shealy.

Once you do fall and hit, the brain can do much more than just bump the inside of the skull. "You can have stretching of cortical connections or stretching of blood vessels, and that can lead to bleeding," Shealy says. "You can also have linear or rotational acceleration [of the brain]. There's a lot that can go wrong in there."

Was Richardson's Death Avoidable?

No one will ever know the answer to this question. As one doctor quoted by ABC News says, a brain bleed can start slowly, and an imaging study done during the first hour after the injury (which Ms. Richardson apparently spent in her hotel room) could have had normal results. By the time symptoms begin, it could be too late to take lifesaving action.

What Happens When a Person (eg Natasha Richardson) has a Massive Brain Injury, or Walk, Talk, Die

This site, Inside Surgery, is new to me, but it has a good explanation of what happens in the ambulance, ICU, and operating room when a person has a brain injury of the type Natasha Richardson apparently sustained.

"Judging by the news reports, Ms. Richardson was awake and alert and talking immediately after the fall with a likely CGS of 15 (normal). She then deteriorated over the next several hours, complaining of not feeling well, and then a headache.

This clinical scenario where a person has a blow to head followed by a lucid or awake interval, followed by rapid and severe deterioration is characteristic of an epidural hematoma or clot. It is usually caused by a rupture in a brain artery, typically the middle meningeal artery. Epidural hematomas also occur in boxers and in patients that are struck in the head with a baseball or hockey puck."

Head Injuries: Talk and Die

So many people have questions about seemingly innocuous head injuries. This is from an excellent article at CNN.com:

It's very common for someone who's had a fall or been in a car accident to appear perfectly lucid just after the impact but then to suddenly, rapidly deteriorate, Dr. Carmelo Graffagnino, director of Duke University Medical Center's Neurosciences Critical Care Unit, told CNN.

Actress Natasha Richardson was talking and joking after she fell Monday during a beginner ski lesson, according to officials at the Canadian resort where she was staying. But soon after she returned to her room she complained of head pain and was taken to a nearby hospital, then to a larger medical center in Montreal. She was flown by private jet Tuesday to a New York hospital. She died Wednesday, according to a family statement.

"A patient can appear so deceivingly normal at first," said Graffagnino, director of Duke University Medical Center's Neurosciences Critical Care Unit. "But they actually have a brain bleed and as the pressure builds up, they'll experience classic symptoms of a traumatic brain injury."

What should you watch for if you or someone close has had a blow to the head?

"Nausea, severe headache, glossy eyes, sudden sleepiness, are all common symptoms. Getting to a hospital within the first few hours is critical to prevent permanent brain damage, experts say. An emergency room team can quickly determine the severity of your injury. An emergency craniotomy -- opening of the skull -- surgery is often needed to stop the bleeding and control brain swelling."

Also check out eMedicineHealth, the Merck Manual, and the Brain Injury Association of America.

Evidence Shows that Ketogenic Diet Reduces Seizures

A study presented in the current issue of Lancet Neurology supports what proponents of a ketogenic diet have claimed for years: The diet reduces seizure frequency in children with frequent seizures. Hard to believe, but this is the first time that the diet has been tested in a randomized, controlled trial. The investigators had 100 children who had seizures at least once a day. They were divided in two groups: one started the ketogenic diet right away, and the other group served as a control group and started the ketogenic diet after 3 months. The ketogenic diet was associated with a 75% decrease in seizure frequency after 3 months of use. Side effects of the diet included hunger, vomiting, lethargy, and constipation.

For more information on ketogenic diets, see what the Epilepsy Foundation has to say.