The Mito Mystery

Brownout: The Mitochondria Detective work Gets a Little Easier

“The mitochondria are like engines,” he says. “When a car engine doesn’t work right, it smokes.” Similarly, malfunctioning mitochondria produce nasty gunk Enns refers to as “biochemical smoke.”

I love little pictorial metaphors that just make sense.

The article delves into the medical mystery of a young girl who is "anorexic" despite a healthy appetite who had two siblings who passes away with some sort of muscular dystrophy. They get referred to a mitochondrial specialist.

But sometimes, for a single patient, a glimmer of hope breaks through the fog. Veronica Segura recently learned what’s at the root of her disease: a mutation in the cellular instructions for building the enzyme thymidine kinase 2, which plays a key role in synthesizing new mitochondrial DNA. Most important for Segura, a child must receive a bad copy of the gene from each parent to manifest disease. Segura’s husband, Aurelio, doesn’t carry the disease gene, which means their little daughter will never suffer her mother’s mitochondrial illness.

The article ends on this happy note, but I am doubtful of its veracity.
It is my understanding that mitochondrial DNA are EXCLUSIVELY inherited by the mother, who provides ALL of the baby mitochondria as the egg donor -- the sperm mitochondria do not become a part of a zygote->baby...

"The Neuro Exam is not dead"

Bedside Eye Exam Outperforms MRI in Identifying Stroke

"We only misclassified 1 out of 25 patients who had a vestibular disease that was a benign condition of the inner ear,"

"This study demonstrates the critical importance of function-linked tests over purely time-static anatomic tests in discerning the localization of vestibular dysfunction early in its course," session cochair Nina Schor, MD, PhD, from the University of Rochester Medical Center, New York, told Medscape Neurology. "It's so much the better that the tests described by Dr. Newman-Toker can be performed at the bedside in these often critically ill patients."

There are three signs to look for:
Head Impulse test
Beating Nystagmus in lateral gaze
Test of Skew with the Cover/Alternating Cover

These signs showed a Sensitivity of 100% (n=69) and a specificity of 96%(n=25) which is remarkable... while it makes sense to "wait and see" if future tests show that these results are reproducible, it really does not hurt to spend a few extra minutes in a neuro exam to check for these things:

"I No (know) Strokes!" Impulse/Nystagmus/Skew.

ddx

I have a project that I am putting together about differential diagnosis.

it is by no means a topic that I have "mastered" by any means... but there are a few things that i try to keep in mind.

one of them is the quote:

if you hear hoofbeats, think horses, not zebras.

this quote is supposed to remind people that common things are common.

But db reminds me that premature closure is also a problem.
So I would revise the old saying thusly:

If you hear hoofbeats, think horses, not zebras. unless you're in a savannah and you see stripes.

Differential Diagnosis Generation

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diamond in the rough: HI 5!

"Health Initiative 5!"

I want to give my patients high-fives when they doing something to benefit their health. In this day and age, a lot of costs of healthcare are occult -- they are hidden behind the corporate/government behemoth that are the main payors of our current system.

Even doctors and nurses scratch their heads when the question is raised -- "how much will this X-ray cost?" Medications are usually more straightforward -- you find out when you go to the pharmacist that you lack drug coverage from your student insurance and the Augmentin antibiotics (that you're not even sure if you really need) will cost you $90 while the Keflex alternative would be around $20. (True story for me!)

People see so much money dumped into the system. They feel that some services are "free" when in fact, they are just patches hiding the real costs. Take Former President George W. Bush's assertion that "we have access to healthcare -- just go to the Emergency Room." To prevent the free=more wastefulnees, we need to feel like we get something back every once and a while.

One of the things I have thought a lot about is the question "How can I get my patients to feel invested in their health? How can I get them to take initiative?"

A recent lecture I attended about IBM's health plan includes "Healthy Living Rebate Programs." People get paid $150 to eat right and exercise. YESSS!!! That's exciting.

One of my plans that has come out of this consideration is the "Health Initiatives 5."
1) this is a physical hi-5.
-- Contacting palms in mid air is a show for positive reinforcement and enacting good changes.
2) this is a financial hi-5.
-- I will give my patients MONEY (as in five dollars off their co-pay) for performing certain small tasks that I outline in their health binder (another diamond in the rough to come)
-- this includes things like filling out an online form about family history. going through an extensive medication reconciliation form and review of systems at the visit. successfully quitting smoking or meeting "TLC: therapeutic lifestyle changes" goals and thus, not requiring medications for high cholesterol or high blood pressure.
--this checklist will be a series of small personal challenges for my patients; a way of defining their management plan and turning it into something tangible.

Lower co-pays with increased patient compliance and excitement to save money by working hard with me on a lot of challenging issues = happier patients, more appointments and better health.

I'll Hi 5 to that!

something that I want to be a part of

diamond in the rough: insurance vs assurance

(let the uncapitalized and flow of thought format convince you that this is just a ""thinking out loud" post rather than a heavily researched topic... although it is something I think about all the time and plan to turn into a formal proposal at some point.)

a lot of the healthcare debate rages over the issue of what "health insurance should cover."

what should it cover?
whatever the consumer is willing to pay to have it cover, of course.
the whole point of insurance is to stack the odds and cover for those emergencies -- you know, when you go to the hospital for an emergency surgery or you get in a car accident.

what the REAL issue that everyone is arguing about is health ASSURANCE.
we want to be able to have affordable care from our doctors to keep us healthy! as more and more medications hit the market (or have been gathering dust on the back shelves despite comparable proven efficacy and safety records) and more screening tests are shown to be helpful to prevent X Y and Z, we expect more from our healthcare providers.

Think about it.
Fifty years ago, people thought that smoking was not hazardous to your health -- now we know it causes irreversible lung damage that may require expensive home oxygen, frequent life threatening lung infections that require hospitalization and lung cancer that may convince people to make a last ditch effort to go for some surgery or chemotherapy.

we expect healthcare for our buck rather than someone who sits back and tells us what will happen if we dont do x y and z. (as i highly doubt my 10 second description of possible complications of smoking would EVER convince someone to quit.)

so what is the solution?

we need a lot of different fixes.

we need to keep health insurance -- it may benefit insurance companies if they are no longer the sole cash provider of ALL health services since many things are fought against tooth and nail from a financial perspective like pre-existing conditions as ways of cutting costs. (and thus better deferred to the government)

we need to maintain health assurance -- and that's where the government can step in. obviously, we have the knowledge and the means to keep our populace healthy. this starts with the simple concepts of public health. it worked with public sanitation, why not extend it to public nutrition and public exercise? those are the largest lifestyle changes that impact health to the public (and thus falls under public health domain.) this means that there would need to be a HUGE shift in public imagining of the way things work -- public gyms with trained physical therapists competing with private gyms with trainers. growing garden programs, subsidies for local produce, taxes on unhealthy snacks and cooking classes for those with hypertension, diabetes and high cholesterol.

we need to have this health assurance on the provider level. doctors and their staff need to be assured that they can have the tools they need to provide the best care that they can. this means no hoops to jump through to approve medications or procedures (no retarded justifications for complex medical decisions to people who may only have training in insurance policy instead of medical necessity.) No unjustified denial of payment based on deadlines that are not medically relevant. this means we need an integrated system for health sharing -- a network where a patients labs, imaging, and ideally records and procedures can be accessed by all who need this information without filling out endless requisition forms.

most importantly, we need this health assurance on the patient level. they need to feel that they have the time to talk with their doctor and understand what is going on and how they can be a team member in their game of life. docs are only coaches in this, occasionally directing the plays, but the patients make the ultimate decisions and live with the consequences. Patients need to feel free to find someone that they feel they can work with instead of being locked in a room with one grouchy overworked doc who may disagree with what they want.

i dont know where we are with the healthcare reform.
but i want to be assured as well.

Eye am so confused!

I remember when I had my one and only ophthalmology lecture in medical school (in a Problem-Based Learning curriculum, few formal lectures exist if at all.) We spent just 30 minutes on this topic and I still stumble on it, so I thought I'd clarify it and review it using a simple image (see slide three.) The rest of the presentation is just gravy, but that's notmysecondopinion.

Eye Am Confused

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Psychosocial Medicine

I do not believe in fate, just the idea that we can be receptive and perceptive to the patterns of the world around us.

With that said, I have been feeling touched in a special way these past few days. I traveled across the US for a rotation in Family Medicine in what might be arguably the birthplace of Psychosocial medicine... it is really nice to see a program that openly and seamlessly integrates aspects of this into daily practice.

Yesterday's Grand Rounds covered a health care model that incorporates mental health as a key component of medical health. Behavioral Health Professionals are considered to be Primary Care Providers at the clinics (in this model) and indeed, many patients actually view the BHPs as their PCP instead of the doctor!

It goes to show that a lot of the pain and suffering people have can be alleviated by having someone open and willing to listen.

One of my favorite rotations on Maui when I did my third year longitudinal outpatient experience was psychiatry for precisely this reason. We had the opportunity to have longer, uninterrupted routine visits with people who had complex psychosocial issues in addition to a number of medical problems... and such a simple process led to so much healing.

Due to privacy and confidentiality concerns, I hesitate to speak in specifics about the cases I have been involved in. Luckily, I watched the season premiere of House which illustrates many of these principles.



House is committed to Mayfield Psychiatric ward and goes through an incredible process on the road to recovery... from nearly everything that makes House a Vicodin-popping, biting caustic sarcastic jerk.

The psychiatrist he is "pitted against" exhibits a lot of great traits for a physician. He listens, he reflects, he foils almost every antic that House can throw against him in the crusade to get his medical license back. How does he prevail? He speaks openly and honestly. He has impeccable timing, anticipating, confronting and deflecting to just the right degree that he makes conflict seem like a meaningless endeavor. Most importantly, he identifies what is important to House and uses THAT as House's path to rehabilitation.

Of course, for House it is the practice of medicine. In a psych ward, he is immediately able to identify and disable all of the different characters with the right combination of words and actions. He can diagnose and antagonize... but as he discovers in the course of this episode, he finds that he cannot FIX everything. He cannot fix anything really, since these are the fragile minds of people rather than diseased organs to be removed and discarded. In the process of helping others (as tragic as it may be on occasion) he helps himself.

I am hoping to see this process recur throughout the season, with him returning to the psychosocial aspects of medicine -- it is a daring move on the part of the writers since they have freed House to be redefined.