From NEJM

Fuch's corneal dystrophy?  Have any idea what that is?  It affects about 5% of those over the age of 40, and as Rick and I both freely admit in this week's podcast, we had no idea either.  But in this week's New England Journal of Medicine, we both received an education regarding the most important cause of the need for a corneal transplant.

E2-2 protein and Fuch's corneal dystrophy examines the relationship between genes and development of the condition.  For those of you who think this may be a reach from a public health perspective, consider that Fuch's corneal dystrophy often accelerates in those who've undergone cataract surgery, and since about 10 million people have this surgery each year, the potential for harm is huge. Fuch's is the precipitating factor in the 42,000 corneal tranplants taking place in the US each year.

Two forms of Fuch's exist: early-onset familial and age-related.  The familial form develops earlier in life, while the age-related form is associated with the formation of 'guttae,' foldings of the membrane underneath corneal cells that eventually interfere with cell function and lead to opacity of the cornea.

This study used a technique called genome wide association to examine the DNA of study participants.  Researchers were able to identify variations in the DNA sequence that conferred up to a 3000-fold increased risk of developing Fuch's.

As Rick points out in the podcast, the Human Genome Project cost millions of dollars and countless human capital, yet practical, let alone clinical utility has been spotty at best.  This study clearly utilizes data obtained from that project to potentially help tens of thousands of people avoid the need for a corneal transplant and points the way toward develop of interventions. Roar!

Sounds like in the short term, a genetic test to predict this risk should soon become widely available, underscoring personal genetic analysis as increasingly important in health maintenance as well as disease management.

Other topics this week include the egg recall (check out your own eggs at www.eggsafety.org ), the consequences of helping clean up oil spills in the current issue of Annals of Internal Medicine, and drugs to combat herpes infections and the risk of birth defects in JAMA.  Until next week, y'all live well.

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People with a type of lung cancer called non-small cell who received palliative care early in the course of their disease lived longer and experienced less mental distress than patients who didn't receive such care, a study in the New England Journal of Medicine concludes.

Are you familiar with the term 'palliative care?'  Rick defines it from a  clinical perspective in this week's podcast, but one dictionary I consulted defines palliation as a means to relieve or lessen without curing, and as such, has quite a role in medicine, especially at the end of life.  Palliative care differs in essential ways from hospice care, however, because helping people to live with constraints or consequences of health conditions doesn't always mean helping them to a humane death.

Continue reading “Palliative Care Helps” »

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From American Red Cross of Santa Monica

Rescue breathing, or 'mouth to mouth,' does not improve outcomes for people who experience an out of hospital cardiac arrest and are ministered to by bystanders, and can therefore be safely forgone, two studies and an editorial in this week's New England Journal of Medicine conclude.  Chest compressions, of course, are crucial, and should be administered at a rate of about 100 per minute until emergency medical services personnel take over.

Continue reading “No Breaths Required” »

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Women who've had a miscarriage don't need to wait for months or years to attempt to become pregnant again, a study published online in the British Medical Journal concludes. The study examined outcomes for almost 31,000 Scottish women who suffered a miscarriage and became pregnant again after various intervals of time.  Those who waited for months or years to attempt another pregnancy fared worse by many measures, including whether they had another miscarriage, had a pregnancy outside the uterus (an ectopic pregnancy) or whether they delivered a live infant.  The study clearly seems to contradict World Health Organization recommendations that women wait at least six months after miscarriage to attempt another pregnancy, and certainly guidelines of other organizations suggesting an interval even longer than that.

Continue reading “After the Miscarriage” »

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Did you ever go to bed hungry as a child?  Rick poses that question in this week's podcast, and reveals that no, he never did.  While we're in true confession mode, I will reveal that I've never had that experience either, and suspect that few of our listeners or readers have. Yet that is not the case for a distressingly sizable, and growing number of children worldwide.

Continue reading “Going Hungry in Childhood” »

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792px-Nostrils_by_David_Shankbone-300x227Think about the last time you had a bad cold and couldn't smell.  Not only did your own voice sound funny inside your head, but you probably lost your appetite, at least for a bit.  That's because our sense of smell, conveyed by the only neurons we have that are directly exposed to our outside environment, are found at the top of the nose, and they are intimately connected to our sense of taste.  When they're all glued up with sticky mucus they don't work.  Thus one of the fundamental ways we can enjoy food, by smelling it, is disabled, and most of us consume less. 

Continue reading “Losing Your Sense of Smell” »

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il_430xn_66592028Is vitamin D the key to a long and healthy life?  Judging simply by the number of literature citations or even the number of times Rick and I have talked about vitamin D in the last 18 months of podcasts, that sure looks to be the case.  Just as historically vitamin E, the B vitamins, and many others have had their moment in the limelight, vitamin D is currently everyone’s  darling.  Now comes a study in Archives of Internal Medicine associating low levels of vitamin D with cognitive decline and dementia.

Continue reading “Vitamin D Again (or Still)” »

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High blood pressure, aka ‘hypertension,’ is a killer, and a largely silent one. As we age it develops slowly, until one day that intolerable threshold of pressure is reached and we’re at much increased risk for strokes and other cardiovascular events.

Continue reading “Engaging Patients in Managing High Blood Pressure” »

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sensor1People with diabetes who must use insulin have fantasized for a long time about an automatic device to help them keep insulin levels in the proper range, increasing the hormone after eating, for example, and tapering it off gradually as the body does in those without diabetes.  Now a study in the New England Journal of Medicine describes a prototypical two-monitor system that may pave the way:Effectiveness of Sensor-Augmented Insulin-Pump Therapy in Type 1 Diabetes.

Continue reading “Have Glucose Monitors Come of Age?” »

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nrg1377-f4Chances are good you own an mp3 player, the most popular of which is the iPod.  And you’ve probably also heard that listening to the device with earbuds inserted can compromise hearing (tell that to any mom who’s been trying to gain the attention of her teenager!).  But now a study in the current issue of Archives of Otolaryngology, Head and Neck Surgery takes a more rigorous view of the matter in Short-term Auditory Effects of Listening to an MP3 Player.

Continue reading “Mp3 Players and Hearing Loss” »

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