Saturday, January 30, 2016

Medical privacy

Seven years ago, I sat across from Farrah Fawcett in the living room of her Los Angeles condo. In what would be her last media interview before she died in 2009, she described her suspicion that an employee at UCLA Medical Center had shared details of her cancer treatment -- and the setbacks along the way -- with the National Enquirer....

Moreover, the government still needs to write regulations to implement provisions of a law passed in 2009. One would require health providers to give patients, upon request, a log of everyone who looked at their electronic medical record. Another would give patients whose privacy has been violated a share of the money HHS recovers. Finally, the government has yet to submit to Congress a report due in 2010 with recommendations for how to deal with the privacy of health information not covered by HIPAA.

For our part, we as patients -- and loved ones of patients -- need to stay vigilant. We need to ask for and keep copies of our medical records. We should look for errors and ask for corrections. Beyond that, we can request a list of who has looked at our electronic records (although providers may not have the ability to generate this or could simply say no). You can ask to speak to your hospital's or clinic's privacy or compliance officer with such a request...

After my mom died in 2013, I worried that her death might have been caused by a medical error. In the course of trying to investigate, I asked for a listing of everyone who had looked at her records. It was dozens of pages, and even though I'd been writing about health care for more than 15 years at that point, I couldn't make much sense of it. I didn't know who the people were or why they had looked at her records. I'm sure many, if not all, of them had legitimate reasons to do so -- to take her blood, process her prescriptions, adjust the settings on her ventilator, etc. That said, now that I know about the steps I can take to protect myself, I'm pretty sure I will take them going forward.

Ultimately, though, privacy boils down to trust. It has to. If we need medical care, we seek it -- and whether our records will be kept secure is generally not foremost in our minds.

I've thought often this year about how what Fawcett told me years ago foreshadowed a much bigger problem.

"I'm a private person," she said. "I'm shy about people knowing things. And I'm really shy about my medical" care.

"It seems that there are areas that should be off-limits."

A gift

We buried my sister Deborah quickly, in accordance with Jewish tradition, two states away in the family plot in New Jersey. A handful of us gathered around the rectangular hole by the graves of grandparents and great aunts and uncles, recited the prayer for the dead, trudged through blowing brown leaves, ate sandwiches at the diner next door, and drove back to Connecticut. My sister Lisa said it felt weird to be leaving her behind. But she won’t really be alone, I said, and we giggled at the idea of Deborah there amidst all those arguing relatives for eternity.

Deborah’s voice, however, wouldn’t be part of the arguments. Born with tuberous sclerosis, which causes benign brain growths and, in her case, seizures and severe intellectual disability, Deborah never learned to speak. For the last 25 years of her life, she lived in a group home in Connecticut, spending most of her time sitting on a favorite brown leather chair, legs tucked under her, eyes focused on nothing in particular.

Deborah was elegant in her own way, slim with thick, shiny, dark hair. In her skinny jeans and Aeropostale sweatshirts, she looked like a pretty teenager even in her 40s. Sometimes she was willing to interact with family, housemates, and caregivers — clapping her hands excitedly in imitation of me or one of my kids, tolerating a game of catch (from her armchair, with a half-deflated yellow basketball), or standing and grasping my forearm en route to the snack cabinet.

Most of the time, she avoided eye contact. Though she’d bend her head down to accept a kiss, she wasn’t comfortable being touched. After one visit involving a chocolate doughnut and some hand holding and ball tossing, my son, then 13, confided in me his belief that if he tried hard enough to connect with her, she’d snap out of it and start talking. I knew that feeling; I’d had it pretty much my whole life.

When, a few days after the burial, Lisa told me she was ready to start planning a memorial service, I balked. It had been an awful few months — really, an awful year — and I wanted to move on. Over the spring, through the summer, and into the fall, an aggressive and ugly cancer had sapped Deborah’s energy, and nobody knew how to interpret her howls and moans. Was this pain? Should we give her more morphine? Was she anxious, or constipated, or hungry? She rattled her primary care doctor, who would call me when something was wrong and talk, doctor to doctor, sparing no grisly detail. One morning, I paced in an empty parking lot in the glaring sun outside a conference center, trying to get cell-phone reception; the doctor’s voice was coming in choppy, something about bleeding and oozing, and I remember feeling a cloud of anxiety expanding painfully in my chest and wondering if this was the beginning of the end. But it wasn’t, for quite a while — until it was.

When home hospice wasn’t enough to ease Deborah’s pain and agitation, we moved her to inpatient hospice. She faded quickly. The muscles of her hands shrank and flattened. She slept a lot, her mouth wide open. Oddly, she seemed more comfortable making eye contact than ever before. Perhaps it was the morphine or the Ativan.

Still, it was hard to imagine how the drugs could sufficiently dull the frustration and puzzlement she must have felt over her inability to get out of bed. Simply grasping a spoon of lemon ice and guiding it to her dry mouth required coordination she no longer had, so we took over — and felt, every time she opened her mouth to accept a proffered spoonful, a faint pulse of joy.

Deborah died on a Saturday morning. When I arrived at the hospice, she was flat on her back, thin hands folded gently and symmetrically at her waist, a flower between them. It all seemed fake. I suspected she hadn’t slipped away so peacefully, and Lisa told me she’d been curled up on her side when she died. I imagined her thin scapula jutting out, face squinched in opiate-blanketed discomfort...

As it turned out, about 30 showed up, and plenty spoke. There was one caregiver who read a lovely acrostic poem she’d written about Deborah, and others who recalled sweet and funny moments from her last few years. There were people who’d worked at Deborah’s group home many years earlier who still thought about her. There was the sister of one of her housemates who said that her sister and Deborah had been best friends. (I’d never realized that Deborah was capable of having a friend.) Her primary care doctor, who had visited her in emergency departments, hospitals, and her home, spoke movingly about how much she had learned in the challenging process of caring for her.

So many people referred to her as a gift. I started to understand that they were talking about selfless love, about how she made people feel good without doing much of anything, simply by being there, sitting on her chair and offering an occasional smile or joyful laugh. With Deborah, there was never an ulterior motive, other than getting someone to hand her an occasional bag of Cheetos.

At the end, a string trio we’d hired played an original arrangement of a Taj Mahal song, “Cakewalk into Town,” that Deborah had always nodded her head to, and it was bouncy and delicate and tentative: “I had the blues so bad one time it put my face in a permanent frown; you know, I’m feeling so much better, I could cakewalk into town.”

The cellist leaned forward, the violinist perched on the edge of her seat, the violist’s eyes were closed, and I closed my eyes, too, swept away by the music and the lightness and pleasure that were so familiar from times I’d spent with my sister.

Anna Reisman, M.D. Gifts. N Engl J Med 2016; 374:208-209
Courtesy of Doximity

Thursday, January 28, 2016

Release of information

I have been in correspondence with the father of a former patient, where the family has since moved away.  The former patient is having ongoing neurological problems.  I asked if her records from the pediatric neurologist currently treating her could be forwarded to me for review.

Father then asked:  "How would I got about doing that without upsetting anyone?"
My response:  "If you request that your daughter's records be sent to me for review, no one should be upset.  If I am wrong, I would like to speak with whomever might be upset.  If when I was treating your daughter I had received a request to forward her records elsewhere, I would have done so without adverse feelings.  Every parent should be able to share their child’s records with any provider they might find helpful."

Vasovagal syncope and driving

Vern Hsen Tan, Debbie Ritchie, Connor Maxey, Robert Sheldon.  Prospective Assessment of the Risk of Vasovagal Syncope During DrivingONLINE FIRST. JACCCEP. 2016;():. doi:10.1016/j.jacep.2015.10.006

Objectives This study sought to estimate the likelihood of a motor vehicle accident causing serious risk or harm in patients with frequent vasovagal syncope, and compare this with international accident data.
Background Recurrent vasovagal syncope poses a risk because of fainting while driving, but prospective, benchmarked estimates of this risk have not been reported.
Methods Data were from the POST (Prevention of Syncope Trial)-1 and -2, which were multicenter randomized studies of patients with ≥3 lifetime vasovagal syncope spells. POST-1 patients (reported in 2005) received metoprolol or placebo for ≤1 year between 1998 and 2004; POST 2 patients received fludrocortisone or placebo for ≤1 year between 2006 and 2011. Accident data were recovered from Internet reports from the United States, United Kingdom, and Canada.
Results A total of 418 patients (age 38 ± 17 years) had a median of 10 lifetime faints and a median of 3 faints in the previous year. Total follow-up time was 323 years, or 0.77 years per person. A total of 174 subjects fainted, having a total of 615 faints. Two patients fainted while driving, without fatality or injury, with a likelihood of 0.62% per person-year. The risk of serious harm or death was <0.0035% per person-year, and 0.0018% per faint. In the general U.S., U.K., and Canadian driving populations, the risk of serious harm or death was 0.067% per driver-year, and the risk of death was 0.009%.
Conclusions The estimated risk of serious harm or death was <0.0035% per person-year in highly symptomatic patients, less than the risk of serious harm or death in the general population. (A Randomized Clinical Trial of Fludrocortisone for Vasovagal Syncope: The Second Prevention of Syncope Trial [POST II]; NCT00118482)

Courtesy of:

In this largest analysis of this risk to date, Dr Vern Hsen Tan (University of Calgary, Alberta, and Changi General Hospital, Singapore) and colleagues analyzed data from 418 adults from the combined Prevention of Syncope (POST) 1 and POST 2 trials...

Based on case records, they found that during a mean follow-up of 0.77 years, two patients fainted while driving. One had a prodromal syndrome and pulled off to the side of the road, and the other had minor bodily injuries...

There are two takeaway messages for clinicians. First, "this at least gives some information on how to talk with a specific patient [with vasovagal syncope] about what their risk [of an accident while driving] is," he said. The study showed that "the likelihood of a motor-vehicle accident in patients with moderately frequent vasovagal syncope is very low and well within societal tolerance based on general motor-vehicle accident rates."

Second, despite this low risk, "You've got to know the law, [and clinicians] have to obey the law," which is very different in various US states and Canadian provinces, he said. For example, in Alberta, clinicians need to discuss driving limitations with patients with vasovagal syncope, whereas in Ontario, clinicians also have to inform authorities...

Vasovagal syncope is common and affects a third of men and more than 40% of women, according to Sheldon...

POST 1 randomized 208 individuals with vasovagal syncope who were seen from 1998 to 2003 in study centers mainly in Canada, but also Columbia, Germany, the US, and Australia to receive the beta-blocker metoprolol or placebo.

POST 2 randomized 210 similar individuals seen from 2006 to 2011 in study centers mainly in Canada, but also Columbia, the US, and Poland, to receive fludrocortisone or placebo. Neither therapy significantly reduced the risk of syncope during a follow-up of about a year.

They had fainted a median of 10 times in their lives including a median of three times in the year prior to enrollment...

During a mean follow-up of 0.77 years, 174 study participants had 615 fainting episodes, and two participants (one in POST 1 and one in POST 2) fainted while driving. Thus the likelihood of fainting while driving was 0.62% per person-year and the estimated risk of a serious injury or death caused by fainting while driving was <0.0035% per person-year.

Based on data for motor-vehicle accidents and casualties, the researchers estimate that in the general population in Canada, the US, and the UK, from 2009 to 2012, the risk of either serious harm or death from driving was 0.067% per driver-year, and the risk of death was 0.009%.

Tan and colleagues acknowledge several study limitations. POST 1 and POST 2 were not designed to evaluate syncope and driving, and on average, patients were followed for under a year. Moreover, very few patients were older than 70, so the results cannot be generalized to elderly drivers.
Importantly, they had no information about the advice about driving that clinicians gave these patients or whether the clinicians followed provincial or state guidelines for driving restrictions. However, in Alberta, where 170 of 418 patients lived, patients who faint are very rarely prohibited from driving for more than a week, according to the researchers. 
In addition, they had no information about patient compliance with advice they received about driving.

On the other hand, this was the largest reported patient cohort, and "the follow-up duration captures a reasonable horizon of clinical decision making," according to Tan and colleagues.
"Much larger and prospectively designed studies are required to provide more precise estimates of risk for policy makers," they urge.

Wednesday, January 27, 2016

To hold her through this life

Wisconsin mother Cori Salchert and her family adopt terminally ill “hospice babies” to give them the family they might otherwise miss.
I do not know what the criteria for sainthood are, but it is hard to imagine a more noble calling than that of this Sheboygan family that has been intentionally adopting terminally ill babies to give them a family and the best possible life for the very brief time they have.
Having a terminally ill child with a very short life expectancy has to be one of the most terrible and painful experiences a person could go through, but according to, Wisconsin nurse and mother of 8 Cori Salchert and her family have signed on for just that, and they’ve done it multiple times.
Salchert told that some “hospice babies” are left without families because their parents cannot bear to watch their children die, so they “step away.” The babies might spend their short lives in hospitals with no real family, so Salchert decided that her calling, and that of her family, was to provide these babies with a family for as long as they had.
Salchert has eight biological children, and she worked as a nurse and a perinatal bereavement specialist and with Hope After Loss, which was created to support grieving families that lost babies or pregnancies. In 2012 she adopted her first baby when she was told there was a 2-week-old baby girl with no name and nobody to take care of her.
The baby girl’s condition was like something out of a nightmare. She was born without the right or left hemispheres of her brain. She was in a vegetative state and could not see or hear and only responded to pain stimuli. It was a tragedy.
Salchert brougth the baby girl home and named her Emmalynn.
“She could have died in the hospital, wrapped in a blanket and set to the side because she was being sustained with a feeding pump. But we brought this beautiful baby home to live, and live she did,” Salchert said.
Emmalynn lived for 50 days surrounded by parents and eight siblings, and when she passed, she was in Salchert’s arms.
While grieving Emmalynn, Salchert and her family made the amazing decision to go through it all again, and they adopted Charlie, an adorable little boy who already ahs brain damage and lives on life support. He has to breath through a tiny straw and has been resuscitated 10 times in the past year. Doctors don’t expect him to survive another one. But still, Sachert loves him and says she feels blessed to have him in her life.
“For years, I had wanted to care for babies who had a life-limiting prognosis like Charlie or a terminal diagnosis like Emmalynn,” Salchert wrote. “What a gift it is to be a part of these babies’ lives, to have the ability to ease their suffering, to cherish and love them even though they aren’t able to give anything tangible back or even smile in return for our efforts.”
Salchert is amazing. This isn’t the sort of thing most people could bear even once, and what she and her family are doing for these babies is nothing short of extraordinary.
Emmalynn lived more in 50 days than a number of folks do in a lifetime. She had not had a family, and now she was suddenly the youngest sibling of nine. We held her constantly and took her everywhere with us.
There came an evening when I knew Emmalynn was beginning to fade. The whole family was home and got to hold her and kiss her. My husband tucked her close with her little head under his chin and sang to her. Eventually, most of the family began to drift off and head to bed, but my daughter, Charity, and I stayed awake with her.
I was snuggling Emmalynn into my furry, warm bathrobe, holding her on my chest and singing 'Jesus Loves Me' to her, when it occurred to me that I had not heard her breathe for a few minutes. I leaned her back to look at her, and saw that this beautiful creature was gone. She'd left this world hearing my heartbeat. She didn't suffer, she wasn't in pain, and she most certainly wasn't alone. It was painful initially. Gradually we were able to see the opportunity to hold her through this life and as she entered the next solely as a gift.
Emmalynn had left her tiny impression on our lives and, while we were grieving her loss, we eventually began to heal and consider taking in another baby...
As in Emmalynn's case, we do everything we can to love Charlie, and we take him on adventures with us everywhere we can. We even got approval for a bed large enough for us to snuggle in with him and cuddle him while he is attached to the tubes and machines that keep him alive.
For years, I had wanted to care for babies who had a life-limiting prognosis like Charlie or a terminal diagnosis like Emmalynn. What a gift it is to be a part of these babies' lives, to have the ability to ease their suffering, to cherish and love them even though they aren't able to give anything tangible back or even smile in return for our efforts.
We invest deeply, and we ache terribly when these kids die, but our hearts are like stained-glass windows. Those windows are made of broken glass which has been forged back together, and those windows are even stronger and more beautiful for having been broken.

Tuesday, January 26, 2016

Medical marijuana revisited 2

A brief article recently posted the name and picture of a neurosurgery resident accused of smoking marijuana on the job. Dr. Gunjan Goel, MD is a neurosurgery resident at University of California, San Diego, and the list of her awards and publications alone is almost as long as my entire CV. The article is brief, and rather uninformative. The only facts that are known are this: The Medical Board of California investigator demanded a hair sample, and in response Dr. Goel acknowledged smoking 3 to 4 occasions over a six-month period, on her days off. This incident touches on a lot of complicated issues- intoxication on the job, surgeon quality and competence, and not least of all anti-drug enforcement efforts...

Should the accusation of daily usage prior to operating be true, Dr. Goel would be guilty of a heinous betrayal of trust, and the entire medical profession would be in overwhelming agreement that she fully deserves all of the consequences that the medical board will mete out. But this article examines the (to me) more interesting question: How do we judge Dr. Goel’s acknowledged usage of marijuana a few times per month on her days off?...

So, as long as it doesn’t “impair the ability of the licensee to practice medicine safely,” it’s not unprofessional. With this in mind, was Dr. Goel practicing medicine safely, or not? ...

Almost all surgeons would agree that barring an extraordinary emergency, the only acceptable blood alcohol level is zero — which can generally be reliably achieved with a night of abstinence. But marijuana? It can be detected in the urine for weeks, and in the hair for months. So what does it mean to be intoxicated with marijuana while operating?...

Now, many online commentators stated that they did not mind if Dr. Goel used marijuana on her own time, as she acknowledged doing. It is whether she used marijuana before operating, as she is accused of doing, that would be completely unprofessional and appropriate grounds for disciplinary action. But marijuana’s effects are complicated. While it is true that many of the acute effects dissipate 6 hours after use, attention/executive function (rather important in a neurosurgeon) in heavy marijuana users is significantly affected as compared to light users even after day of abstinence from the drug — with heavy users being defined as smoking a median of 29 of the past 30 days, which granted is inconsistent with Dr. Goel’s stated usage of the drug. And furthermore, few surgeons are ever truly off duty...

And here we come to the crux of the matter: How long should Dr. Goel have abstained from marijuana prior to operating? Without solid data, the kind which is really difficult to obtain in a country where marijuana is technically illegal, there is no accepted standard we can use to say how long one must wait after using marijuana before one can be considered non-impaired...

 Foolish and near-criminally negligent attempts by ProPublica to the contrary, there is still no good way to truly measure a surgeon’s skill that is repeatable on a wide scale- and how much that skill decreases in the event of marijuana intoxication. Perhaps surgical videos will eventually get us there, and it is in that kind of individualized (but highly resource intensive) methods that I see some hope for progress- having one’s ability to operate after sleep deprivation, while sick, and in other conditions evaluated repeatedly over time should allow surgeons to understand and make better decisions about their fitness to operate. But what about bad actors who do not act responsibly? This brings us to the final issue raised by this incident: what kind of measures must we take to protect patients from physicians who are intoxicated?...

So, what was the investigator going for? Clearly not to prove that Dr. Goel was intoxicated at that point in time — which is interesting, in light of the California medical board’s assertion that “she uses it daily, while at work, and on call.” Perhaps the real goal was an implicit threat: If the hair tested positive at all, the medical board would have grounds to go after her license. Cooperate now and enter a rehab program, or you will never practice as a doctor.

The medical board would not necessarily be wrong in taking this stance. As previously stated, there is no hard data on how long one has to remain abstinent from marijuana in order to operate safely. In the absence of any data, perhaps the most careful and ethical course of action for a surgeon would be to abstain from marijuana entirely except possibly on the first day of a two-week vacation. While I personally wouldn’t be affected in any way, I also don’t think it is particularly realistic, and would make criminals out of a lot of otherwise quite capable surgeons who use marijuana to relax after extraordinary taxing days. After all, neurosurgeons probably rank behind only air traffic controllers in terms of being the most stressful profession imaginable. But, the military, the airline industry (often held up as the gold standard of safety culture) and many other professions do indeed maintain a apparently successful zero-tolerance policy for marijuana even in light of the liberalization of society with regards to the drug. Who is to say that such an approach is not best?

A less strict, but still valid and empirical approach may be a simple policy: no one may operate with detectable levels of marijuana in their blood...

If more research is required, then as marijuana becomes decriminalized in more states research to fine tune the limits should become easier to do. It should be a relatively simple affair to take groups of attending and resident surgeon volunteers, give them marijuana, and measure their abilities at set intervals- along with the detectable levels of marijuana in blood and urine. When the performance of the surgeons in question is statistically indistinguishable from the baseline, that blood level of marijuana should be taken as the legal limit for surgeons. Perhaps it will be 7, 8, or 10 hours. Or perhaps the data will show that it takes 2 or 3 days for the effects to fully dissipate — particularly for heavy users.

And here is the sticking point- someone who uses marijuana once or twice a month is likely to escape any long-term side effects. But someone who lights up every day immediately after work may still successfully show a blood level of 0 by the next morning — while putting themselves at risk for long-term cognitive impairment. It is here that the strongest case for a zero-tolerance policy can be made. But perhaps another way would be to adapt a similar approach that physician groups have been adapting for elderly physicians with cognitive impairments- through specialized and comprehensive testing that determine if any general declines in competency and decision making have been noted. If they have, the physician would be put under heavy pressure to either quit their marijuana usage, or give up their license...

 But there is no widely accepted definition of what constitutes impairment with marijuana, especially considering that the most commonly used test for it will stay positive for much longer than the time it may reasonably impair someone. In light of the increasing prevalence and acceptance of marijuana use in the population, it may be time to define an acceptable level of use by physicians that is considered safe for patients. Perhaps that level of use is never, or perhaps that level is a one that results blood level of zero whenever one is in the hospital. But regardless, without clear guidance that goes beyond an incredibly vague “not impair the ability of the licensee to practice medicine safely,” it is difficult at this time to judge the acknowledged actions of Dr. Goel or physicians like her.
Courtesy of:

Overdiagnosed or overtreated prolonged QT syndrome

Prakriti Gaba,  J. Martijn Bos,  Bryan C. Cannon,  Yong-Mei Cha,  Paul A. Friedman,  Samuel J. Asirvatham, Michael J. Ackerman. Implantable cardioverter-defibrillator explantation for overdiagnosed or overtreated congenital long QT syndrome. Heart Rhythm. Published Online: December 08, 2015.



Primary treatment of long QT syndrome (LQTS) currently consists of beta-blocker therapy, although an implantable cardioverter-defibrillator (ICD) is considered for high-risk patients. However, both overdiagnosis and overtreatment must be avoided because their sequelae can be significant.


The purpose of this study was to evaluate the prevalence and details of ICD explants in a cohort of patients from a tertiary genetic heart rhythm clinic for a previously rendered diagnosis of LQTS.


Overall, 1227 consecutive patients were included in the study. All patients had been referred to the Mayo Clinic for evaluation of possible LQTS and subsequently were either diagnosed with LQTS or dismissed as normal. Further stratification of patients was conducted to assess how many patients had an ICD and how many had a subsequent ICD explant.


In total, 171 patients (14%) had an ICD, including 157 of 670 patients (23%) with confirmed LQTS and 13 of 557 patients (2%) who did not have LQTS. Among these, 12 of 1227 (1%) had the ICD removed: 7 of 157 LQTS patients (4.5%) compared to 5 of 14 non-LQTS patients (36%). Before explant, 5 of 12 patients (42%) experienced inappropriate shocks, ranging from 2 to as many as 54 shocks. In addition, 4 had a device-related infection, and 9 had device malfunction (including lead dysfunction or fracture). None of these patients had a breakthrough cardiac event since removal of their ICD during 5.5 ± 3.5 years of follow-up.


Implications of overdiagnosis and overtreatment are profound because unnecessary ICD placement can be associated with infection, malfunction, inappropriate shocks, and subsequent anxiety.

Courtesy of:

Monday, January 25, 2016

NeuroTribes--a book review

[Regarding Steve Silberman: NeuroTribes: The Legacy of Autism and the Future of Neurodiversity.]

Silberman provides the most complete history of autism I have seen, and he makes it fun to read...

If you think autism is a new phenomenon, this book will make you think again. He gives many historical examples of people who were clearly on the autism spectrum, and he explains why most autistics would have been off the radar in the past. In the first chapter he gives us extensive details about the life of Henry Cavendish (1731-1810), a phenomenally productive scientist who discovered hydrogen and measured the mass of the Earth, but a seriously weird guy. He was socially inept and remarkably eccentric; he dressed in old-fashioned clothes and had fixed routines like taking exactly the same walk every day and eating the same food over and over. He was so upset by accidentally encountering a housemaid on the stairs in his house that he had a separate set of stairs built for his servants so it wouldn’t happen again. He was every bit as Sheldonish as Sheldon Cooper on The Big Bang Theory...

As awareness of autism began to rise, parents found that with intensive early interventions, many of these children could overcome the worst of their handicaps, improve their language and social abilities, and even be enrolled in public schools. Laws were passed to ensure these children had access to educational and therapeutic services.

But at the same time, pernicious rumors spread about vaccines, and all kinds of quackery abounded. Some doctors (and some non-doctors) promised to cure autism with a regimen of diets, supplements, and other unproven interventions, even chelation and chemical castration. Silberman does a masterful job of cutting through the nonsense...

The best thing Silberman does is to put a positive spin on autism. He sees autistics as different rather than as defective. Autism is many things; autistics are actually more different from each other than from neurotypicals. Autism may just be an exaggeration of traits we all have. There is a wide spectrum, and most of us can identify some autistic-like tendencies in ourselves. Some of the characteristics that define autism are also characteristics that make people successful in a wide range of endeavors. The child who spends hours lining up his toy cars just so may grow up to apply the same degree of fixation, dedication, effort, persistence, and total concentration to solving a problem in his chosen field of work. Some autistics have unique abilities in math, art, or other areas. Temple Grandin gives her autism the credit for her ability to design humane livestock facilities; she thinks in images rather than in words and is able to “think like a cow.” She has said she would not support curing autism because “The world needs all kinds of minds.”

Autistics can be thought of as a neurodiverse tribe. Instead of making them conform to our neurotypical world, we can try to accommodate their differences and create an environment for them that will allow them to thrive and contribute to society. Silberman gives many suggestions as to how that can be accomplished. He gives numerous examples of how parents have adapted to the needs of their autistic children rather than making the children adapt to the rigid expectations of society. Sometimes a behavior initially seen as negative can be encouraged and utilized for positive accomplishments.

We are daily confronted with bad news about terrorist attacks, the idiocies of presidential candidates, and celebrities who have proclaimed themselves experts, and pseudoscientific misinformation in the media about everything from vaccines to evolution. In a world with all of those discouraging trends, this book is a welcome ray of clarity, sanity, and optimism about autism. It won the Samuel Johnson Prize, the UK’s most prestigious award for non-fiction, and one review called it a “brilliant and sparklingly humane book.”

Get the lead out

For instance, in Troy, which is about a 45 minute drive from Flint, the 90th percentile reading for lead in 2013 was 1.1 part per billion (ppb). For Detroit, it was 2.3 ppb, a bit higher, but still well below the EPA level for concern of 5 ppb.

In comparison, for Flint the 90th percentile was 27 ppb:
At 27 parts per billion, it’s five times as high as the level of concern, and nearly twice as high as the EPA’s already-generous guidelines. According to the researchers who ran these tests, the health effects of lead levels this high “can include high blood pressure and other cardiovascular problems, kidney damage and memory and neurological problems.” 
Recall, though, that 10 percent of the homes in the sample had lead levels even higher than this. Here’s the highest lead reading in that sample, from a home in the city’s 8th Ward: 
          158 ppm
That’s more than 10 times the EPA limit. It’s 30 times higher than the 5 ppb reading that can indicate unsafe lead amounts.
          But that 158 ppb reading is far from the worst one that turned up in Flint, unfortunately. In
          the spring of 2015, city officials tested water in the home of LeeAnne Walters, a stay-at-
          home mother of four and a Navy wife. They got a reading of 397 ppb, an alarmingly high
But it was even worse than that. Virginia Tech’s team went to Walters’ house to verify those numbers later in the year. They were concerned that the city tested water in a way that was almost guaranteed to minimize lead readings: They flushed the water for several minutes before taking a sample, which often washes away a percentage of lead contaminants. They also made residents collect water at a very low flow rate, which they knew also tended to be associated with lower readings. 
So the Virginia Tech researchers took 30 different readings at various flow levels. What they found shocked them: The lowest reading they obtained was around 200 ppb, already ridiculously high. But more than half of the readings came in at more than 1,000 ppb. Some came in above 5,000 — the level at which EPA considers the water to be “toxic waste.” 
The highest reading registered at 13,000 ppb. 
The professor who conducted the sampling, Dr. Marc Edwards, was in “disbelief.” 
“We had never seen such sustained high levels of lead in 25 years of work,” he said. 
According to Edwards, the team retested the water with extra quality controls and assurance checks, and obtained the exact same results.
When I decided to write this, I realized that our readers might question why this would be an appropriate topic for science-based medicine. After all, the effects of lead poisoning are very well known. Lead can result in developmental delay, decreased IQ, decreased hearing, and ADHD. The children of Flint who were affected with this will likely have behavioral problems, and lead exposure has even been linked to violent crime.

Besides outrage, what motivated me to write was a desire to point out how SBM interfaces with public health in ways not involving vaccines. Science-based water treatment is science-based medicine through its effects on public health, and, arguably even more so than vaccination policy, is a product of politics, which can lead to disasters like this. Everybody knows that clean, uncontaminated water is important for the health of the people using it. What’s not so well known is how difficult it is to produce. For instance, before this crisis, I did know that our state had an aging infrastructure. I was not, however, aware of how widespread lead pipes still are in city water supplies. Even though my bachelor’s degree was in chemistry before I went to medical school, I was still also blissfully unaware of the chemistry of water treatment, because that’s a rather specialized field of applied chemistry. I had no idea that there would be a big difference in the ability of water to leach lead from lead pipes depending on its salt concentration and pH, much less what needs to be done to prevent it from doing so.Here’s the even bigger kicker. Even using the Flint River water, the City of Flint could have prevented the corrosion of its copper and lead pipes relatively inexpensively:
Marc Edwards, a professor at Virginia Tech who has been testing Flint water, says treatment could have corrected much of the problem early on — for as little as $100 a day — but officials in the city of 100,000 people didn’t take action.
It’s not clear whether incompetence or saving money was the imperative here. Whatever the reason, the city failed to treat the Flint River water, leaving it corrosive and able to leach lead and copper from the aging pipes used to transport it. As a consequence, an as-yet unknown number of children have been poisoned with lead, which is most damaging to the developing brain. This is all straightforward science. We know what levels of lead are safe and what levels are not. We know what the effects of lead poisoning are in children. We know how to prevent them. Chemists specializing in water purification know that corrosive water placed in old copper and lead pipes will leach lead and copper out of them. They even know how to treat the water to prevent this leaching! Yet that wasn’t done.

Now we will now be forced to use science-based medicine to treat potentially thousands of children for lead poisoning and science to try to fix the problems caused by this colossal failure of science-based public policy. Worse, it’s still going on, as The Guardian just reported on Friday that water authorities across the US are systematically distorting water tests to downplay the amount of lead in samples.

As I think about that, seeing the Governor throwing mid-level bureaucrats under the bus and other politicians saying that the Flint water crisis is a hoax does not give me confidence in how this crisis will ultimately turn out or that the aging infrastructure that allows such a catastrophe to occur will be fixed any time soon.

Applied kinesiology

Applied kinesiology (AK) was briefly mentioned in Scott Gavura’s article on Food Intolerance Tests last week. Since AK is arguably the second silliest thing in CAM after homeopathy, I thought it wouldn’t hurt to say a little more about it.

A press release on the Wall Street Journal website recently announced that a chiropractor in Illinois was offering “Nutrition Response Testing”
…to help patients optimize overall health…[the test] determines the specific balance of nutrients necessary to optimize metabolic function at the cellular level… the chiropractor then uses this information to make nutritional recommendations for patients…[the test] provides precise feedback that can also help identify the underlying cause for chronic pain and illness.

My first thought was that he must be using one of the quack electrodermal testing devices that I wrote about here and here.

No, nothing so high tech. The chiropractor’s website explains:
The practitioner will do the analysis by contacting your extended arm with one hand, and contact the specific reflex area with other hand. If the tested reflex is stressed, your nervous system will respond by reducing energy to the extended arm (which will weaken and cause it to drop). A drop in the arm indicates underlying stress or dysfunction in that area which can be affecting your health.
This is nothing but AK disguised with a new name. It is nonsense based on magical thinking, suggestibility, and the ideomotor phenomenon. Steven Novella has explained the role of self-deception in AK. Practitioners are genuinely not aware that they are eliciting positive results by exerting less force on the arms of patients who in turn are not aware that they are not trying as hard to resist.

My first encounter with a believer in AK was when a local chiropractor gave a talk about how he diagnosed and treated allergies. He described having patients hold a sealed vial of allergen in one hand while he tested the strength in their other arm. In one case, he suspected that the patient was allergic to work, and since he didn’t have a vial of “Boeing” to test, he just had the patient think about Boeing and that worked just as well. In his introductory remarks, he had let slip that when he was in school he “had never been very good at science.” That was the only thing in his whole talk that I believed.

One of my favorite stories from the history of skepticism is Ray Hyman’s account of how he and Wally Sampson did a double blind test of AK. A group of chiropractors claimed they could distinguish between glucose (“bad” sugar) and fructose (“good” sugar) by putting a drop of dissolved sugar on a patient’s tongue and testing the muscle strength in their arms. They demonstrated that they could reliably detect which was which… as long as they and the patients both knew which was which. Under double-blind conditions, they failed miserably. The head chiropractor then commented to Ray:
You see, that is why we never do double-blind testing anymore. It never works!
I think that’s a hilarious example of how many CAM advocates think: they know they are right, and threfore there must be something wrong with science if it fails to support them.

And no, we skeptics don’t dismiss AK just because it sounds silly. AK has been tested. A typical study showed that the “use of applied kinesiology to evaluate nutrient status is no more useful than random guessing.” A systematic review of published evidence showed “the few studies evaluating specific AK procedures either refute or cannot support the validity of AK procedures as diagnostic tests.”

We know it doesn’t work. We know why it doesn’t work. We know how practitioners are fooled into thinking it works. Nuff said!

Nevertheless, AK is used by 37.6% of chiropractors in the US, according to the American Chiropractic Association. It is also an integral part of NAET (Nambudripad Allergy Elimination Technique), a quack treatment for allergies and chemical sensitivities that was invented by an acupuncturist and is practiced by an estimated 8500 licensed medical providers.

Saturday, January 23, 2016

Youth antipsychotics and type 2 diabetes mellitus

Britta Galling, Alexandra Roldán, René E. Nielsen, Jimmi Nielsen, Tobias Gerhard, Maren Carbon, Brendon Stubbs, Davy Vancampfort, Marc De Hert, Mark Olfson, Kai G. Kahl, Andres Martin, Jeff J. Guo, Hsien-Yuan Lane, Fung-Chang Sung, Chun-Hui Liao, Celso Arango, Christoph U. Correll. Type 2 Diabetes Mellitus in Youth Exposed to Antipsychotics. A Systematic Review and Meta-analysis. JAMA Psychiatry. Published online January 20, 2016.

Importance Antipsychotics are used increasingly in youth for nonpsychotic and off-label indications, but cardiometabolic adverse effects and (especially) type 2 diabetes mellitus (T2DM) risk have raised additional concern.

Objective To assess T2DM risk associated with antipsychotic treatment in youth.

Data Sources Systematic literature search of PubMed and PsycINFO without language restrictions from database inception until May 4, 2015. Data analyses were performed in July 2015, and additional analyses were added in November 2015.

Study Selection Longitudinal studies reporting on T2DM incidence in youth 2 to 24 years old exposed to antipsychotics for at least 3 months.

Data Extraction and Synthesis Two independent investigators extracted study-level data for a random-effects meta-analysis and meta-regression of T2DM risk.

Main Outcomes and Measures The coprimary outcomes were study-defined T2DM, expressed as cumulative T2DM risk or as T2DM incidence rate per patient-years. Secondary outcomes included the comparison of the coprimary outcomes in antipsychotic-treated youth with psychiatric controls not receiving antipsychotics or with healthy controls.

Results Thirteen studies were included in the meta-analysis, including 185 105 youth exposed to antipsychotics and 310 438 patient-years. The mean (SD) age of patients was 14.1 (2.1) years, and 59.5% were male. The mean (SD) follow-up was 1.7 (2.3) years. Among them, 7 studies included psychiatric controls (1 342  121 patients and 2 071 135 patient-years), and 8 studies included healthy controls (298 803 patients and 463 084 patient-years). Antipsychotic-exposed youth had a cumulative T2DM risk of 5.72 (95% CI, 3.45-9.48; P < .001) per 1000 patients. The incidence rate was 3.09 (95% CI, 2.35-3.82; P < .001) cases per 1000 patient-years. Compared with healthy controls, cumulative T2DM risk (odds ratio [OR], 2.58; 95% CI, 1.56-4.24; P < .0001) and incidence rate ratio (IRR) (IRR, 3.02; 95% CI, 1.71-5.35; P < .0001) were significantly greater in antipsychotic-exposed youth. Similarly, compared with psychiatric controls, antipsychotic-exposed youth had significantly higher cumulative T2DM risk (OR, 2.09; 95% CI, 1.50-5 2.90; P  < .0001) and IRR (IRR, 1.79; 95% CI, 1.31-2.44; P < .0001). In multivariable meta-regression analyses of 10 studies, greater cumulative T2DM risk was associated with longer follow-up (P < .001), olanzapine prescription (P < .001), and male sex (P = .002) (r2 = 1.00, P < .001). Greater T2DM incidence was associated with second-generation antipsychotic prescription (P ≤ .050) and less autism spectrum disorder diagnosis (P = .048) (r2 = 0.21, P = .044).

Conclusions and Relevance Although T2DM seems rare in antipsychotic-exposed youth, cumulative risk and exposure-adjusted incidences and IRRs were significantly higher than in healthy controls and psychiatric controls. Olanzapine treatment and antipsychotic exposure time were the main modifiable risk factors for T2DM development in antipsychotic-exposed youth. Antipsychotics should be used judiciously and for the shortest necessary duration, and their efficacy and safety should be monitored proactively. 

Courtesy of:

Friday, January 22, 2016

Psychopathology and quality of life in childhood migraine

 Öztop DB, Taşdelen Bİ, PoyrazoğLu HG, Ozsoy S, Yilmaz R, Şahın N, Per H,
Bozkurt S. Assessment of Psychopathology and Quality of Life in Children and
Adolescents With Migraine. J Child Neurol. 2016 Jan 12.



The aims of this study were to investigate comorbid psychiatric disorders and to identify anxiety and depression levels and quality of life in children and adolescents with migraine; and to assess their relationship with migraine.


35 patients aged 9-16 years were followed in our neurology clinic and their parents were included into the study. 35 age- and sex-matched patients were employed as the control group. In the subjects included, psychiatric disorders were assessed by using the Schedule for Affective Disorders and Schizophrenia for School Age Children-Present and Lifetime Version. All children and adolescents were assessed by using the Children's Depression Inventory, the State-Trait Anxiety Inventory and the Pediatric Quality of Life Inventory. In addition, the Pediatric Migraine Disability Assessment Tool and visual analog scale were used to identify the degree of disability and pain severity in patients with migraine.


In the psychiatric assessment of children and adolescents with migraine, it was found that a psychiatric diagnosis was made in 40% of patients; and depression scale scores were significantly higher than those of controls. Quality of life was found to be poorer in patients with migraine compared to controls. It was found that quality of life was negatively correlated with pain severity and degree of disability; while it was positively correlated with depression scores.


In children and adolescents with migraine, treatment of psychiatric disorders in addition to migraine therapy can facilitate migraine management and may decrease the need for prophylactic therapy.
Courtesy of:

Thursday, January 21, 2016

Doppelganger genetics

Two twin strangers from Ireland -- who never knew the other existed until two months ago -- recently took a DNA test to find out if they were related.
The results "absolutely surprised" the both of them, according to Niamh Geaney, who added that she and her doppelganger Irene Adams "couldn't believe" the results.
Geaney -- who's from Dublin, Ireland -- told ABC News today she first connected with Adams -- who's from Sligo, Ireland -- this past November after a friend of Adams' told her she looked like "that doppelganger girl on the news."
Coincidentally, a friend of Adams' brother also contacted Geaney around the same time.
"We got in touch, met up and it was absolutely surreal to see yet another one of my doppelgangers in the flesh," said Geaney, 27. She explained that Adams, 28, is actually the third doppelganger she's discovered so far since creating Twin Strangers, a website and tool that uses facial recognition software to match you to a potential lookalike.
"We clicked instantly, and just like my second doppelganger, she not only looked exactly like but also acted like me," Geaney said. "It was like watching myself. Our facial expressions are exactly the same, our eyes and nose crinkle the same way, we smile the same and she also talks with her hands just like me."
Dozens of users commented on video of Geaney's and Adam's meetup, suggesting the two should get a DNA test since the both of them were from Ireland and could actually be "10th cousins or related somewhere down the line," Geaney said.

This past December, the two went to national DNA testing center DNA Ireland, where they gave samples of their saliva.
The samples were used for three tests that determined the probability of the two being sisters, half sisters, or related at all based on lineage traced up to 20,000 years ago.
Below are the results, which were delivered earlier this month to Geaney and Adams:

Probability of Being Full Siblingship

There was only a 0.0006 percent chance the two had the same parents.

Probability of Being Half Siblingship

There was only a 0.1 percent chance the two shared one parent.

Probability of Sharing a Common Ancestor Up to 20,0000 Years Ago

Rather than a percentage, this test gives users their haplogroup, which is a letter assigned to a genetic population group of people who share a common ancestor on a patrilineal or matrilineal line.
Geaney had Haplogroup H, and Adams had Haplogroup T.
"We were shocked," Geaney said. "We thought, 'OK, we definitely have to have relatives from the same place somewhere down the line,' but that wasn't the case."
Geaney added that she believes the test has "fascinating implications" and that the test could suggest "doppelgangers really are, in fact, a mysterious phenomenon."

Integrative medicine

Integrative medicine is hard to define, but just as American English is distinct from British English, integrative medicine is different from medicine a generation ago. The federally funded National Center for Complementary and Integrative Health defines it as “bringing conventional and complementary approaches together in a coordinated way.”

“The old [medical] model was ‘find it and fix it,’” explains Dr. Scott Schwantes, associate medical director at Gillette Children’s Specialty Healthcare and head of the hospital’s neuropalliative and integrative care unit. “The new model is ‘mind and body.’”

Peek into Minnesota’s leading hospitals, health care systems, doctor’s offices, and psychiatry practices today and you’ll see hundreds of examples of integrative medicine. At the Mayo Clinic Healthy Living Program, throat cancer survivors learn new cooking methods and cardiac patients fill yoga classes led by yogis specializing in Reiki, an energy-based healing therapy. At PrairieCare Hospital and Clinics, the fastest-growing acute mental health care chain in the state, suicidal teens have access to a mental health coordinator who focuses on spiritual growth and exploration. At the three Twin Cities Mother Baby Centers, state-of-the-art Neonatal Intensive Care Units, lactation consultants, aromatherapy consultants, and groovy low-light spa-like rooms coexist so that new moms can sleep and heal before and after childbirth. At The Waters, a senior care center that now has six Twin Cities locations, residents participate in spiritual, emotional, and physical programs in collaboration with the University of Minnesota’s nationally leading integrative think tank, the Center for Spirituality & Healing.

How did a state best known for icy winters and politely wary emotional engagement become the leader in something so darn soft? The reasons are varied. “Minneapolis is a green, outdoorsy, progressive community. No one here seems to be held down by traditions, and they aren’t afraid to try something new,” says Dr. Stefan J. Friedrichsdorf, medical director of the Department of Pain Medicine, Palliative Care, and Integrative Medicine at Children’s Hospitals and Clinics of Minnesota. “It is just something that seems to be in the DNA of the city. What takes the rest of the world 17 years to adapt to comes here very fast.” Friedrichsdorf should know. He was born in Germany, where he was a pediatric resident before moving to Sydney, Australia, for his fellowship at a children’s hospital. He was then recruited to Minneapolis, and today he runs North America’s largest pain and palliative care training seminars for health professionals—so that Minnesota’s integrative care advances can be used in the wider world. “There are some people for whom [integrative medicine] intuitively makes sense,” Friedrichsdorf says. “That Western medicine is good, it’s great, but it’s not the end. If people combine the best of Western medicine with the best evidence-based results from other traditions, the results will be better.”

Friedrichsdorf makes a convincing case for integrative medicine in the various studies he’s led and published in journals such as the Journal of Palliative Medicine (palliative medicine being a specialized care approach for people with serious illnesses). One study showed that children with fatal cancer who received palliative care, such as massage and whole-family counseling, lived with a better quality of life, had more meaningful happy experiences, and suffered less fatigue, diarrhea, seizures, and pain—and saved their insurers an average of $275,000 for home-based palliative care. That insurance savings—and the fact that insurers are now covering more complementary medical therapies—is certainly another reason integrative care is on the rise in Minnesota and around the country (according to a federal survey released in 2015, close to a third of U.S. health care consumers used complementary therapies with traditional medicine between 2002 and 2012).

“A thing they call ‘the triple aim’ is the holy grail of health care these days,” explains Penny George, the visionary philanthropist who funded a good part of the local integrative movement (read her story on page 29). George describes the triple aim as improving patient satisfaction, clinical outcomes, and cost savings, and she says integrative health medicine delivers on all three. Imagine, George continues, 100 elderly people in a hospital, and none of them can sleep. If 100 get a sleeping pill, some will have drugs in their systems that could cause them to fall in the bathroom and hit their heads, costing the hospital tens—if not hundreds—of thousands of dollars. But what if instead those people are lulled to sleep in a quiet room with acupressure, the smell of lavender, and a nurse using “narrative therapy”—talking to them and understanding their wants and needs and calming their minds? Everyone’s happier.

Dr. Deborah Rhodes, an internist at the Mayo Clinic, emphasizes that wellness goes beyond soothing white robes and pretty smells. “If you want to optimize cancer outcomes based on true data, we don’t see anywhere to go but with integrative medicine,” she says. “Weight, inactivity, stress, poor diet—that’s what brings on so much disease and so much recurrence. Learning to relax and eat well is the embodiment of all our best advice accrued from giving medical care. But every doctor knows telling someone to make exercise a priority and actually getting them to change are different things. . . . The missing piece is turning our best advice into action that patients want to take.” That’s why there are now life coaches, nutrition coaches, masseuses, acupuncturists, and yogis on staff at Mayo Clinic.

Integrative medicine may be hard to define at first, but, like a new language, you begin to recognize it when it’s pervasive. Listen for words like resilience, mindfulness, sleep, listening, purpose, community, and wellness. And don’t be surprised that people from Europe and the Middle East are jetting to Minnesota to learn mindfulness and how to eat well. “There’s just been a belief in Minnesota that we can always do things better,” says Dr. Henry Emmons, a psychiatrist known for his work in resilience...

In the 1980s, they used to do open-heart surgery on infants without anesthesia,” explains Dr. Stefan Friedrichsdorf, with the rapid and unhappy air of someone who has repeated something horrible a number of times and still finds it appalling... “They would do a little something to paralyze the muscles, then strap them down and start cutting. There was a crazy belief that babies did not feel pain. I can tell you that cancer pain is the same for a 3-year-old as it is for a  30-year-old.” Friedrichsdorf has devoted his life to moving the needle—quite literally—on children’s pain.

He went on to discover a variety of techniques to help children cope with their pain. One such method has pediatric patients blowing bubbles, which calms their breathing and distracts them from pain when, say, a needle stick is coming. Friedrichsdorf says we take common needle pokes of childhood far too lightly. He says the proper procedure for all shots and blood draws should be to apply Lidocaine or something to numb the skin, then engage the child in an age-appropriate distraction technique (blowing a pinwheel or, for babies, a dose of sugar water). Allow the child to have some control, he adds. “Do you want to sit in mommy’s lap or do you want to sit alone?” explains Friedrichsdorf, who has worked with thousands of children throughout his career and has three of his own, ages 7, 8, and 10. “One out of four Americans is needle-phobic,” he adds. “Seven percent of Americans don’t vaccinate because they don’t want to deal with their child’s pain. I’ve seen five children die of measles. Will that make us take pain seriously?” In the next few years we will see changes to Minnesota’s needle-stick protocols based on Friedrichsdorf's methods. He predicts the changes will spread to the rest of the country. “There should be no needless pain, no unaddressed pain. This isn’t voodoo,” he adds. “If there is less pain from vaccination, there will be less dying from measles.” Although pain from a needle prick might not seem comparable to an infant not getting anesthesia for surgery, the philosophy is the same: Kids’ pain, no matter the source, is serious and should be treated as such.

Wednesday, January 20, 2016

Pediatric auto-brewery syndrome

A 13-year-old girl had long-standing short bowel syndrome secondary to jejunal atresia and necrotizing enterocolitis, and underwent extensive small bowel resection in the neonatal period. During the 6 months before her visit to this pediatric gastrointestinal clinic, she was noticed to have recurrent episodes of bizarre behavior, somnolence, disorientation, and a fruity odor of her breath and was suspected to be abusing alcohol. She was diagnosed as having alcohol intoxication when ethanol blood levels were repeatedly elevated, in the range of 250 mg/dL to 350 mg/dL. However, the patient persistently denied any intake of alcohol or alcoholic beverages. Nevertheless, this was suspected to be an adolescent behavior disorder. After repeated episodes of apparent intoxication, a psychiatric evaluation was performed and recommendation was made for admission for alcohol detoxification in a rehabilitation facility where she would be continuously monitored. While in the rehabilitation center, with no access to alcoholic beverages, she continued to have intoxicated behavior and again showed elevated blood ethanol levels. d-Lactate levels were repeatedly undetectable. She was finally suspected to be producing ethanol endogenously by fermentation by a mechanism similar to d-lactic acidosis because of her short gut.
The family noted that these episodes tended to be observed frequently after ingestion of excess carbohydrates and juices. The father, who is a physician, had started to monitor her ethanol level using a commercial breath analyzer in relation to meals and continued to monitor the child for access to alcoholic beverages. A strong correlation was found between her elevated ethanol levels and intake of high carbohydrate meals or fructose-containing drinks. Her symptoms did not resolve with empiric courses of Bactrim™ (Roche Pharmaceuticals, Nutley, NJ), Flagyl™ (Pharmacia, Peapack, NJ), and Augmentin™ (SmithKline Beecham, Philadelphia, PA) for suspected bacterial overgrowth. She then underwent upper gastrointestinal endoscopy study to obtain aspirates from her small intestinal fluids, which were sent for bacterial and fungal cultures. The aspirate grew abundant amounts of two types of yeast:Candida glabrata and Sacchromyces cerevisiae. After appropriate antibiotics were given based on fungal sensitivity studies (fluconazole), the symptoms resolved and there was no recurrence of the elevated ethanol levels.
Dahshan A, Donovan K. Auto-brewery syndrome in a child with short gut
syndrome: case report and review of the literature. J Pediatr Gastroenterol Nutr.
2001 Aug;33(2):214-5.
This is a case of a 3-year-old female patient with SBS. She had a birthweight of 1800 g and gastroschisis with an apple-peel-type malformation of the small bowel that was operated at the age of 8 h with closure of the abdomen and a loop enterostomy (jejunum). The stoma was closed when the patient was 2 mo old. One year later, however, the patient was re-operated because of an obstruction of the small intestine. The operation was complicated, and the inferior mesenteric vessel was accidentally divided. Despite direct anastomosis, blood circulation was not restored, and 24 h later the patient was re-operated, where half of the proximal colon and a large portion of the small intestine were resected. Because of a stricture in the jejuno-colonic anastomosis, another resection of the intestine was performed 1 wk later, and the patient lost more than half of her colon and a large portion of the jejunum, leaving 17 cm of small bowel remaining.

Initially, the patient received total parenteral nutrition by a central venous catheter, but enteral feeding was slowly introduced and was increased to about 20–30% of her nutritional need. Because of several episodes of septicaemia, which was based on suspected bacterial overgrowth from the intestine, the patient was given a Lactobacillus-containing carbohydrate-rich fruit drink 2–4 times a day when she was 3 y of age. At this age, she received one-third of her nutrition by enteral feeding. A couple of weeks later, the parents noticed a distinct smell of alcohol in the girl's bedroom. Moreover, they had also seen her walking erratically and behaving in a generally bizarre manner. A breath analyser showed a value of more than 22 mmol/l of ethanol.

The carbohydrate-rich fruit drink was discontinued for 1 wk, whereby all symptoms immediately disappeared. When the fruit drink was reinstated, the same symptoms of alcohol intoxication reappeared. A blood test showed an ethanol concentration of 15 mmol/l.

Jansson-Nettelbladt E, Meurling S, Petrini B, Sjölin J. Endogenous ethanol
fermentation in a child with short bowel syndrome. Acta Paediatr. 2006

When did you first realize that your gut creates its own alcohol?
Matthew Hogg:
I suffered from digestive upsets throughout my childhood. I was initially diagnosed with irritable bowel syndrome, but in my teens I experienced a severe worsening of symptoms, like bloating and gas after meals—so much so that I could feel the bubbling of fermentation occurring in my lower abdomen. More worryingly, I developed new, quite frightening symptoms. I would feel intoxicated, as well as exerpience a long list of whole-body symptoms, including chronic fatigue, muscular aches and pains, chronic headaches, mental impairment, mood disturbances, and so on.
Did you feel hungover afterwards?
Yeah, by my late teens I was experiencing severe alcoholic hangovers that would usually be at their worst the morning after eating a high carbohydrate meal. I'd get pounding headaches, severe nausea, occasional vomiting, dehydration, dry mouth, cold sweats, and shaky hands. It was as if I'd been out the previous night and drunk the bar dry, but I hadn't consumed any alcohol...
How has this illness affected your life? It's had a huge and devastating impact on my life. Up until the age of 16, I was a straight-A student, and I found academic work enjoyable and rewarding. I was also a keen athlete and sportsman, and I had a great social life. As the auto-brewery syndrome began to assert itself, all of this changed. I found myself struggling badly at school when, in my mind, I knew I shouldn't be having any problems. I also had to quit sports because I'd feel exhausted after a gentle run and found myself struggling to get up in the mornings. I felt frightened, not knowing what was happening to me, as well as frustrated and angry that I was unable to function at the high level I was used to. My social life suffered badly, and I felt alone and detached from my friends and lacked the energy and motivation to be a part of things...
I imagine this could be the last thing you'd want to do, but have you ever eaten a load of sugary foods to get drunk for recreational reasons? Honestly, there are times in social situations—or when nothing else is available, if I'm away from home—that I've either been forced to or chosen to eat sugary and starchy foods. But, as a rule, I prefer to stick to the low-carb diet because the negative consequences outweigh the momentary pleasure. It's always been the case that I feel more hungover than drunk as a result of auto-brewery syndrome, so, although people may assume this condition is a cheap way to get drunk for recreational purposes, that's unfortunately not the reality.
But you can get drunk by eating sugar and carbs, right?
Yes. There were many times, throughout my later high school years in particular, when I felt moments of drunkenness without having consumed any alcohol. I'd describe them as periods rather than moments, actually, as they lasted for a few hours at a time. These periods of intoxication always followed a meal, and after a few hours—which is a typical time period for digestion and absorption—the effects would wear off and I would feel normal consciousness return.
My overriding memory of this time is feeling frustrated that my brain wasn't functioning at the level I was used to. I looked at equations in my favorite science classes and knew I should have no problem understanding and solving them, but they now looked like gibberish. There were times when I also acted out of character. I was generally everyone's friend at school—a social butterfly. But there were instances when I upset people with uncharacteristic behavior akin to a drunk who stirs up trouble or lets things slip that they wouldn't have when sober.

Tuesday, January 19, 2016

Self diagnosis (DIY)

So 19-year-old Jill put on her most serious navy pantsuit, again gathered up her papers, and took them to a neurologist in Des Moines. She asked the neurologist to take a look, hoping that she would help her connect with the Italian team and get in the study. But the neurologist would have none of it. “No, you don’t have that,” Jill recalls the neurologist saying sternly. And then she refused even to look at the papers. It might seem rude that a doctor refused just to hear Jill out and glance at the papers, but, at the time, most doctors believed Emery-Dreifuss only occurred in men. Plus, this was a self-diagnosis of an obscure disease coming from a teenager.

So Jill wrote to the Italians herself. She constructed a family tree, noting all the symptoms she saw in her father, two younger brothers and a younger sister, and then she stripped down to her underwear. “I set the timer on my camera and I took pictures of myself,” Jill says, “because I thought, well, if that’s how I identified it, let me send a picture.”

Up to that point, the Italians had only collected four other families to study, so they were thrilled to hear from Jill, and immediately wrote back. From the letter, it seems as though the Italian team thought Jill had access to a lab. Can you send DNA from your entire family? it reads. “If you cannot prepare DNA, just send fresh blood.” And then it gave mailing instructions.

Discouraged by her encounter with the neurologist, Jill figured it would be a dead end to show up at a hospital and ask that her blood be drawn so she could ship it to Italy. So she convinced a nurse friend to smuggle needles and test tubes to her house. They filled them with her family’s blood. At the post office, when Jill declared that her packages contained blood, an employee had to retrieve a big binder that listed what can be shipped to various countries. Fortunately, Italy took blood in the mail.

Today, an entire human genome can be sequenced in a few days. But in the mid-1990s sequencing was a ponderous ordeal. It would be four years before Jill heard back from the Italians...

She was so confident that in her annual trips to the Mayo Clinic, she started taking a pen from her purse and writing “Emery-Dreifuss” on her medical chart. Her mom would get upset: “You cannot change your chart!” I want what I actually have to be listed, Jill would tell her.

Then in 1999, Jill got an email from Italy. She stopped before opening it to let the moment sink in. And then she clicked. She had a mutation on a gene known as LMNA, or, for ease: the lamin gene. So did her father, two brothers, and a sister. So did the other four families in the study with Emery-Dreifuss...

Jill was 25, and a lab director at Johns Hopkins University had heard through the medical grapevine about the young woman who diagnosed her own Emery-Dreifuss. Wanting both a dogged intern and — why not? — a real-life lamin mutant in her lab, the scientist offered Jill a summer internship. Jill’s job was to sift through scientific journals and find any references to diseases that might be caused by a lamin mutation.

Sitting there day after day, reading, as she had freshman year in college in the library, Jill came across an incredibly rare disease. A disorder called partial lipodystrophy. It caused fat on certain parts of the body, particularly the limbs, to disappear, leaving veins and muscles to stand out, as if they’d been shrink-wrapped in skin. Looking at photos of patients with partial lipodystrophy, all Jill could think was that they looked like her family members.

Could Jill have not just one, but two incredibly rare genetic diseases? The odds of having Jill’s Emery-Dreifuss were so rare that the prevalence isn’t even known; certainly more rare than one in a million. The odds of having partial lipodystrophy are probably somewhere between one in one million and one in 15 million. The odds of separately getting both by chance alone? It was one in far more than the number of people who have lived on Earth, ever.

Jill attended a medical conference at Hopkins during her internship, and, as she had with Emery-Dreifuss, she showed photos to doctors and told them she thought she had partial lipodystrophy. Just like before, they assured her it wasn’t the case. They jokingly diagnosed her with something a lot more common: intern syndrome. “Where you have a medical student being introduced to a lot of new diseases,” Jill says, “and they keep thinking they have what they’re reading about.”...

Later that week, Jill’s younger sister Betsy pulled Jill over to the computer to show her a picture.

People often asked Betsy what kind of workout she did, because the muscles in her arms were so well defined. But it wasn’t from the gym. Betsy’s arms had always been defined, and as she grew up, she wanted to know why. Jill told her she might want to look into lipodystrophy, but that doctors had told her years ago that she didn’t have it. Betsy attended a meeting for people with lipodystrophy, and there learned about an Olympic sprinter who was conspicuously missing fat. The picture Betsy showed Jill was, of course, Priscilla Lopes-Schliep...

It was the third time Jill had made a visual lock on something rare. First, it was with her family’s Emery-Dreifuss, then when she thought they had lipodystrophy, and now she thought that she and Priscilla just must have a mutant gene in common because of the exact same pattern of missing fat. But how, then, did Priscilla get a double-helping of muscle while Jill’s muscles were scarcely there?

“This is my kryptonite, but this is her rocket fuel,” Jill says. “We’re like comic book superheros that are just as divergent as can be. I mean, her body has found a way around it somehow.”...

And when Priscilla walked in, Jill’s first thought was “Oh my gosh, it’s like seeing family.”

Priscilla felt the same way. “It really was just a wow moment,” Priscilla says. “Like, do I know you?” The two women started flexing for one another. Priscilla’s muscles many times larger, but with the same definition exposed by a lack of fat. They even retreated to a hallway in the hotel to compare body parts. “There is something real here,” Priscilla recalls thinking. “Let’s research. Let’s find out. Because how could the gene do this to you and this to me? That was what my question was. How?”

Jill offered Priscilla a cashier’s check, money that had been raised for research in a memorial fund after her father’s death. Jill hoped Priscilla would take it and use it to pay for a genetic test. And Priscilla agreed.

It took a year to find a doctor to test Priscilla. She visited several clinics. Some told her they just didn’t do that test. Others said they weren’t sure how to interpret the results, so they felt it wouldn’t be responsible to do the test.

Finally, Jill went to a medical conference and approached the foremost expert in lipodystrophy, Dr. Abhimanyu Garg, who runs a lab at the University of Texas Southwestern Medical Center. He agreed to do both genetic testing and a lipodystrophy evaluation.

The results showed that Jill had been right. She and Priscilla do have a genetic connection. Not only do she and Priscilla both have lipodystrophy — the disease Jill had been told to cast aside back when she was an intern at Johns Hopkins — but they have the exact same subcategory of partial lipodystrophy, known as Dunnigan-type.

And Priscilla did indeed have a mutation on her lamin gene. Both women have a typo on the same one of their 23,000 genes. Priscilla’s is not the exact same “single-letter” typo that Jill has, though; it’s a neighbor typo. That splinter of distance in typo location seems to makes the difference. It’s why Jill has Emery-Dreifuss and Priscilla has fantastic musculature. (That said, there are people with Priscilla’s exact genetic typo who have both fat and muscle wasting.)...

Despite her monstrous training regimen, Garg informed Priscilla that, due to her unmonitored lipodystrophy, she had three times the normal level of triglycerides, or fat in her blood...

In other words, Jill had once again helped steer someone away from a medical disaster. She had prolonged her dad’s life, and now — once again with that cutting-edge medical tool Google Images — she caused the most intense medical intervention that a professional athlete had ever had. Priscilla called Jill to tell her. “I was like, ‘You pretty much just saved me from having to go to the hospital!’” Priscilla says. “Dr. Garg told me I have the gene and my numbers are out of the roof.”

Even Garg was startled by what Jill had done. “I can understand a patient can learn more about their disease,” he says. “But to reach out to someone else, and figure out their problem also. It is a remarkable feat there.”

Courtesy of a colleague