Long QT Syndrome, location matters


I just saw a family who had Long QT with a KCNQ1 mutation ripping through them. Which is why I loved this email I received from one of my long time readers the day after I saw them.



One of my favorite lines from this paper was

"Nothing tests the tools of clinical risk prediction quite like sudden death."

Ummmm......Uh Huh.

They go on to say

"The difficulties encountered in the clinical application of genetic data, even in inherited conditions such as the long-QT syndrome (LQTS), in which the transmitted risk of sudden death is several hundred-fold greater than that in the general population, highlight some of the hurdles that must be overcome if DNA diagnosis is ever to transform cardiovascular medicine. "

The reader then went on to send me a release from ScienceDaily

But I should probably give you some background.

Long QT syndrome is a condition where the electrical activity in your heart is faulty. In fact, the conduction system has dangerous delays that can lead to dangerous heart rhythms which cause sudden death.

It is so serious that in every single patient I see, I ask "Has anyone in your family died suddenly or in their sleep? Has anyone had any crib death? Any sudden unexplainable car accidents?"

This is my lay screen for Sudden Cardiac Death (SCD).

Long QT is one of the causes of SCD. The rate is about 1 in 2000 or so. In 10% of people roughly, the first symptom is sudden death. This can be due to exertion, stress, auditory triggers.

A multicenter study was performed to evaluate genetic "noise" in 1400 controls and approximately 400 subjects (Far more than the Norovirus resistance gene for 22andSerge)

What did they find? They found some noise......of course.
This noise was present in about 4% of controls. This is surprisingly low in my estimate......

What else did they find? They found a genotype/phenotype correlation. Which in Autosomal Dominant disease is also no big surprise. Which likely will be augmented with modifier genes.

What is the "noise rate" for other genes? That, my friend is a good question.

What is noise? It could be anything we haven't classified as for certain pathogenic or benign. For BRCA we call these changes "Variants of Uncertain Significance" or affectionately known as VUSes

The VUS rate for BRCA is anywhere between 10 and 15 percent. Which is why I was so surprised about the LQTS study. Heck, there are more than 2 genes involved in LQTS

So why is this noise such a big deal? As we reach the precipitously dropping cost of the genome, we will be able to have a whole bunch of noise......

In fact, I think it will take us at least 20 years to sort out that noise. Add on layers of epigenetics and we may have another 20 years.......

Why so glum? We do have pretty valid clinical testing for Sudden Cardiac Death. It works, MOST of the time. Whole Genome Scanning?

Well, that may be a different story. I have harped on the Incidentalome several times on the blog, but this bears repeating.........

" If practitioners pursue these unexpected genomic findings without thought, there may be disastrous consequences. First, physicians will be overwhelmed by the complexity of pursuing unexpected genomic measurements. Second, patients will be subjected to unnecessary follow-up tests, causing additional morbidity. Third, the cost of genomic medicine will increase substantially with little benefit to patients or physicians (but with great financial benefits to the genomic testing industry), "

-Zak Kohane

"Mathematicians modeled sequencing the whole genome. As they get up to sequencing 10.000 people they find that the fraction of the population with a false positive result skyrockets up to 60%. What does this mean? Well, we have to carefully select who we test. Or better yet we need an immense database of "Normal Variants". At a minimum we will need 1000s of "sequence specialists" or "computer sequence analysis programs" to evaluate and decide if the "work up" is indicated or not. Personal Genomics is very complex, even more than personalized medicine."

-Steven Murphy in 2007

The Sherpa Says: In Genomics, there is going to be a whole lotta maybes........which in case you are curious, computers handle very poorly....

Welcome to Pest Control Exterminator Network

Pest Control Exterminator Network offers services in the areas of pest control, storage protection and disinfection (disease control). We develops customized pest control products and provides some of them also for sale. Pest Control Exterminator Network deals with new guidance (eg planning, conversions), training and expertise in all aspects of pest control. With bases in the whole of NYC, we are always in your area. This guarantees you a prompt service.

Our employees come from mainly artisanal occupations. In an intensive education and training they receive training from certified experts in the following areas:

? Biology of pests
? Active ingredients, products and their applications
? Technical equipment and its application
? Qualitative & Productive Work
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We also advise the customer on vulnerable areas in the course of operations and prevent a possible infestation. While our work is to control of pest, bed bugs hence we are largely independent and contributes locally, the entire responsibility. We are able to identify pests safely and take the necessary measures. The staff are in daily contact with the headquarters in NYC, but work mainly in their neighbourhood of NYC. Regular exchange of experience and knowledge, operational and external training and technical assistance on site provide a comprehensive information.

The Largest Island for Sale in the World.

san-jose-island-mexico-1Very few islands ever come on the market in Mexico and when they do they are often leasehold properties (as opposed to freehold). However, one island that recently came on the market and that is sure to catch the attention of the world is San Jose Island. The island is rumored to be about 2 million acres in size and is on the market for $150M.  Private Islands Online the agency that is advertising the island has an extensive description about the island that you can read here. From the description it appears that the present plan is to develop the island as an ecopark.

Ashes to Ashes, Dust to Art [Art]

When I see dust, I start cleaning like crazy. When Paul Hazelton sees dust, he collects it, and turns it into statues. Yes, this skeleton was really made out of a pile of dust bunnies, just like Hazelton's other art.

The artist explains that "humans were supposedly made from dust, so it is interesting to create other things with it," and he certainly takes to that task well. Or, if nothing, he must have some superpower that allows him to keep from sneezing long enough to make these statues:

Ashes to ashes, funk to funky. Am I the only one who somehow started thinking of Bowie after looking at Hazelton's art? [Saatchi Gallery via Metro]







Futurism News Bulletin, xvi

MOSAIC EDITION

OTHER NEWS

  • Italian police seized works of art from the ex-director of Parmalat, Calisto Tanzi, including one by Umberto Boccioni (more)

Reviews from PERFORMA 09 shortly….


Creative thinking lets you believe whatever you want

I thought I'd illustrate an important lesson with a link to a page called "the biblical evidence against evolution". It has some perfect examples of a lack of critical thinking ability, and demonstrates that humans are capable of using their own smartness against themselves. It also contains what I can probably only describe as the single most concentrated example of dark-side epistemology I have ever seen:

What About All of the Scientific Evidence?


If you still are not ready to put your complete faith and trust in God when it comes to science vs. Creation, it is probably because you are thinking some of these types of thoughts:

"But what about the scientific evidence for the Big Bang (or the string theory, etc.) and the age of the universe? What about the fossil record and all of the scientific data that seems to be perfectly logical and seems to refute the Biblical account of Creation? What about the proven examples of evolution that are happening today? I can't just disregard all of the scientific facts that I have always been taught!"

When it comes to science, keep in mind that there are many scientists who believe in the Big Bang theory and the theory of evolution, but there are many other scientists who believe that the scientific evidence proves the Creation account in the Bible. Therefore, it all boils down to which set of scientists you choose to believe! It still comes down to a question of faith. For example, Dr. Kent Hovind has a website in which he says, "I have a standing offer of $250,000 to anyone who can give any empirical evidence (scientific proof) for evolution. My $250,000 offer demonstrates that the hypothesis of evolution is nothing more than a religious belief" (see http://www.drdino.com/Ministry/250k/index.jsp Offsite Link). In over a decade, no-one has ever claimed the money. So the all-important question is whether our faith rests on the word of the non-Christian scientists, or whether our faith rests totally on God.

Now, don't get me wrong, I realize that some "evolutionary" and "Big Bang" scientists are Christians. Still, that doesn't change the fact that the Big Bang (or other scientific "origins" theories) and evolution are the only answers which the non-Christian scientists have, and when there is a conflict between what they say and what God says, I'll stand with God every time. Actually, I have studied the evidence for the Big Bang, the age of the universe, the theory of evolution, etc., and some of it sounds fairly convincing to my logical mind. I enjoy science, and I recognize that there can be changing varieties within the different kinds of plants, animals, and other organisms (which is why we have "superbugs" that are resistant to antibiotics, for example). However, this ongoing process that we see happening in the world around us is called "microevolution" by scientists, and it is defined as "the gradual accumulation of mutations leading to new varieties within a species" (Webster's American Family Dictionary). It is not macroevolution, which is defined as a "major evolutionary change of species" (Webster's American Family Dictionary). The examples of microevolution that we can demonstrate in the world around us do not prove the theory of evolution, as any scientist will tell you. I would be perfectly happy to believe that we humans were formed through evolution if that view agreed with the overwhelming testimony of Scripture. But it doesn't. The internal testimony throughout the entire Bible is completely consistent and is completely in opposition to man's scientific theories about the Big Bang and evolution and so on. Therefore, I choose to believe God's Word no matter how convincing some of the scientific evidence might be. God is always right!

If you really want to believe something, you can always find a way, no matter how strong or overwhelming the evidence against it is. There's always that one rogue scientist, that one possible argument in favor of your position (which stands up to scrutiny as long as you don't actually try to attack it at its weakest point).

Motorola’s Got Their Own Android Shop Cookin’ [Android]

Well, lookee' here. Motorola's been building their own Android Marketplace, and someone found it out. It's been taken down since, but here's what Android and Me found before Moto pulled the plug.

The biggest addition is that it's web based. That's right, Android users. A store that's easily browsable on the desktop. Not to mention an application for desktop app management.

So that's all well and good, but why does Motorola have to even build a separate portal? This is all stuff that Google should really be on top of if they want to really win consumers over. The last thing that anyone wants is to have the Android Marketplace start getting segmented by manufacturer, so please Google, whenever you're done building your phone, add this stuff in to save us all the trouble. [Android and Me via Engadget]







Laurent Pichot on Moorea

During my recent trip to French Polynesia I met French blogger Laurent Pichot who also happened to be staying at Moorea Camping. Pichot is currently on leave from his job as an account manager with Google France in Paris and traveling around the world.

Mario Guido Dal Monte exhibit

Mario Guido Dal Monte. Dal Futurismo all’Informale, al Neoconcreto, attraverso le avanguardie artistiche del Novecento

December 19, 2009 - April 5, 2010
*Vernissage Dec. 19th at 5:30pm
Museo di San Domenico - Imola
Curated by Enrico Crispolti
Catalog - Silvana Ed.

link

The Real Google Phone: Everything Is Different Now [Google Phone]

It wasn't supposed to exist. "The" Google Phone. Then we (and others) heard otherwise. And now, Google isn't just handing this "sexy beast" out to employees, they're going to sell it directly. Everything has changed. Here's what we know.

• The Wall Street Journal says it's made by HTC and called the Nexus One. It'll be sold online, directly by Google. You'll have to get your own cell service (which suggests it's an unlocked device). Curiously, the WSJ says, "unlike the more than half-dozen Android phones made by phone manufacturers today, Google designed virtually the entire software experience behind the phone." Sounds weird, since they designed the look and feel of the software on the Droid and G1 too, except that our source had told us before that the current Android we know isn't the "real" Android. Also odd sounding: that name, Nexus One. But maybe not that odd.

• Google confirmed they handed out "a device that combines innovative hardware from a partner with software that runs on Android to experiment with new mobile features and capabilities and we shared this device with Google employees across the globe."

• A bunch of Google employees tweeted stuff like the phone is "like an iPhone on beautifying steroids."

• It probably looks like this:

• It's supposedly an unlocked GSM phone running Android 2.1, powered by the crazyfast Snapdragon processor, with an OLED touchscreen (no keyboard), dual mics (for killing background noise), and enhanced voice-to-text powers. It's gonna be alllll Google branding. And it's probably coming out in January. Which jives with what our source saw a couple weeks ago, a huge screen running a brand new version of Android unlike anything out there.

• We heard it was referred to, at least in some capacity in the staff meeting where they were handed out, as the "Passion."

If Google really is going to push this as The Google Phone (and it's not just a dev phone), it's hard to understate just how radically this changes the landscape not just for Android, but what it means for Google and their relationship to the cellphone industry. The Google Phone would be a radically different model, a shift from the Microsoft one—make the software, let somebody else deal with the hardware—to the Apple and BlackBerry one—make the software and the hardware, tightly integrated. And Google's even taking a step further, by selling it directly, bypassing the carriers, at least initially. (Google would not be the first to sell a high-powered unlocked phone—see Sony Ericsson and Nokia—but neither them are, um, Google, and their well-known failures with that approach makes it even ballsier.)

It's a powerful message: to the companies making phones running Android, to the carriers, to developers, to consumers. Google is in this, to win. Everything has changed. You know, unless it hasn't.







Best Man Pranks Newlyweds by Connecting Their Bed to Twitter [Pranks]

Maybe everyone wouldn't be so riled up about Facebook's privacy changes if they knew what's up over at Twitter. A best man set up a prank where his friend's bed now tweets whenever the newlyweds are, *ahem*, "on the job."

The best man promised the groom that there wouldn't be any tricks before the wedding. Of course, he didn't say anything about after the wedding. Using the same concept behind the Twittering office chair, the best man set up a system where every time there's increased activity up top, the bed reports it. Once all is said and done, the bed reports a summary (including a "frenzy index"), along with a judge's comment for good measure.

The anonymous best man defends himself by saying "BTW - he stitched me up something rotten when he was my best man so I reckon this is reasonable payback :)" He also promises that he will never reveal who he is or the identity of the couple.

Depending on how you look at it, it's either a gross invasion of privacy or a hilarious prank. Tomato toh-mah-toe, I say. If this happened to me, it would definitely be one of those "I hate my friends" moments when I found out. [@newlywedsontjob via 140char, thanks Everyone Like Me]







WSJ Give the Google Phone a New Name: Nexus One [Google Phone]

This little tidbit just popped up on the Wall Street Journal. They're saying that the Google Phone will be called the Nexus One, unlike the Passion name that's been thrown around all day. Keep in mind that Sony calls their custom Android UI Nexus, too. Other than that, they're confirming what we've been hearing: It's built by HTC, Google put a lot of effort into tweaking the stock Android interface, they'll sell the phone direct online, and you'll BYO service plan. [WSJ]







The Fight for eBook Publishing Rights [Ebook]

For the past 15 years or so, most authors who've signed with publishers have explicitly defined their ebook publishing rights. But who owns the rights to the bazillions of books published before ebooks existed?

There's a battle raging (okay, it's actually being handled rather quietly through proper legal channels) right now between publishers and authors over who owns the digital publishing rights of older books. In one corner, you have the authors claiming that because ebook rights were not set explicitly, they retain the right to publish. In the other corner, you have the publishers claiming that ebooks fall under the category of "books" and as such they own the rights.

You can see how this gets messy. In 2002 a Manhattan judge ruled in favor of the authors. saying that ebooks are separate from books. But that's just one case, and there's sure to be more legal action to follow.

You can read more at the link. It's yet another interesting conflict over who owns what, brought about by the gadgets we create. [NY Times]







Jetting to Copenhagen | The Intersection

Copenhagen1I’m about to fly out of Boston to Reykjavik, and then on to Copenhagen, arriving tomorrow at about local noon. It is going to be a packed week: I’ll be blogging daily for Mother Jones’s Blue Marble (crossposting here), and thereby contributing to the Copenhagen News Collaborative, whose feed can be found on the right sidebar.

I’ll also do a blog post for Science Progress on Wednesday, and it looks like I may be doing a Bloggingheads, and perhaps some other spin off articles.

Plus, I’m participating in two panels:

1) On Sunday December 13, following a screening of Robert Greene’s geoengineering documentary Owning the Weather, I’ll be sitting on a panel to discuss the film and the role of geoengineering in the larger climate debate.

2) On Wednesday the 16th, I’ll be appearing with climate journalist and Guardian columnist George Monbiot at an event sponsored by FORSKERforum on the topic “Climate-spin – Science and Politics.” More on that when I have it.

So it’s going to be a busy time, and I expect the blog to be hopping. Check in frequently….


Happy Slothy Holidays | The Loom

sloth buellCarl Buell, who illustrated many lovely critters for my new book The Tangled Bank, has been adding some new paintings to his Flickr stream. Here’s his holiday ground sloth.

In the caption, he writes: “I’ve certainly drawn and painted enough of them over the past 15 years. Ground sloths are a favorite subject. Too big to hide from the weather, this big guy just hunkered down and slept through the storm. It’s hard to imagine these guys in snow, but Megalonyx ranged as far north as Alaska. Another Card idea that never got off the ground.”

Card or not, I’m glad he’s sharing his handiwork.


Car won't shift out of first gear

I have a 2004 Chrysler Concorde XL. The car will not shift out of first gear and a mechanic friend told me that if the fluids were clear and did not smell burnt it may not need a new transmission. Is this true? The fluid is good and no bad smells. Could anyone tell me what it sounds like it could be