Tuesday, June 30, 2015

Anencephaly--the way it was

circa 1978. A woman was discovered shortly before delivery to have an anencephalic fetus. She was told the grim news before delivery. The fetus was seemingly stillborn. The body was covered with a blanket. Later it was noted that there was a rise and fall of the blanket due to breathing. The newborn was whisked off to a secret closet somewhere. The mother was never told other than that her child was stillborn.

The following day, an attending gynecologist uninvolved in the delivery made rounds. He was curious regarding the delivery. When the delivery was outlined for him, he rather imperiously cast doubt on the account. He conceptualized anencephalic as acephalic.

Evaluation of breath-holding spells

 Yilmaz U, Doksoz O, Celik T, Akinci G, Mese T, Sevim Yilmaz T. The value of
neurologic and cardiologic assessment in breath holding spells. Pak J Med Sci.
2014 Jan;30(1):59-64.

Objective : To evaluate the value of neurologic and cardiologic assessment and also the frequency of iron deficiency anemia in children with Breath Holding Spells (BHS). Methods : The hospital charts of patients diagnosed with BHS between 2011 and 2013 were reviewed retrospectively. Results : A total of 165 children (90 boys, 75 girls) with BHS comprised the study group. A matched group of 200 children with febrile convulsions served as controls. Among the first-degree relatives, 13.3% had BHS, 1.8% had febrile convulsions and 12.1% had epilepsy. The spells were cyanotic in 140 (84.8%) children and pallid or mixed in the remainder. BNS type was simple in 46.7% of patients and complicated in the remainder. Eighteen patients had abnormalities in electroencephalography, however only one patient was diagnosed with epilepsy. Sixty nine (47.9%) patients were found to have iron deficiency anemia. Conclusion : Referral of children with clinically definite BHS to pediatric neurology or pediatric cardiology clinics and performance of echocardiography and EEG investigations for exclusion of heart disease or epilepsy appear unnecessary. However, performance of an electrocardiogram to search for prolonged QT syndrome should be considered although no patient in our series had any cardiologic abnormalities.

Monday, June 29, 2015

Coaches and concussions

Most of the coaches correctly identified symptoms of confusion (94%), headache (94%), dizziness (91%) and blurred vision (90%) as indicators of a concussion. Most also identified loss of consciousness (87%), nausea (82%) and amnesia (75%) as indicators of concussion, but fewer than half (42%) recognized sleep problems as a sign of concussion.

About one in 10 associated non-concussion symptoms as primary indicators of concussion, which suggests that they are unable to distinguish concussion symptoms from other injuries and lack in-depth knowledge or understanding about concussion, the researchers say.

Over 90% of coaches knew appropriate management strategies in typical concussion scenarios, but when faced with atypical scenarios, only 57% would appropriately remove an athlete from play.
"The coaches had really good knowledge about signs and symptoms of concussion," Madden told Reuters Health. "But when we looked at their overall management, they often weren't making the right decisions. This suggests that they know what to look for, but they don't necessarily know what to do, or they are uncertain, or there is some other conflict that is coming into play."...

This survey "underlies what we have been trying to push all along and that is to have an athletic trainer in every secondary school," said Cooper, who wasn't involved in the survey.

"With concussion evaluation and management, or any other type of injury, the athletic trainers are the health care professional that can do it, regardless of the sport, the event, the score, and provide even-keel medical evaluation," he said.

He added that coaches' ability to evaluate an athlete "with a neutral mind is sometimes lacking."
"Athletic trainers are the ones who should decide whether an athlete stays in the game or doesn't. Any coach in their right mind would not want to take that on, just because that is not what they are trained to do. We're the ones providing the health care, the coaches are the ones doing the coaching," Cooper said.

Second opinions

Many if not most doctors would probably agree with Melissa Walton-Shirley, MD, a clinical cardiologist at Cardiology Associates in Glasgow, Kentucky, when she insists that "patients absolutely have a right to a second opinion." Dr Shirley did not qualify when a second opinion might or might not be justified.

But while many physicians say they agree with Dr Shirley, not all of them do.

"If a doctor is upset that a patient got a second opinion, I would consider that a knock," says John Mandrola, MD, a cardiac electrophysiologist at the Louisville Cardiology Group in Louisville, Kentucky. Dr Mandrola specializes in treating patients with atrial fibrillation, a condition for which patients commonly seek a second opinion regarding treatment. "I think it's a mark of a good physician that they don't get upset if a patient wants a second or third or even a fourth opinion."

But some physicians do get upset.

Even Dr Mandrola sometimes does.

"It would be a little overconfident to say that I don't ever get emotionally attached to my recommendations," he admits. "But I am actively mindful of not being attached to what the patient chooses to do."

Not every doctor is always so mindful, however...

"There's certainly an ego component for some physicians," says emergency physician Miles Varn, MD, medical director of PinnacleCare, a health advisory firm in Baltimore, Maryland, "although what I tell the patients is: 'If a physician is really resisting a second opinion, there has be a reason for that,' and it's not necessarily a reason that's in the best interest of the patient. In our experience, we see very little resistance to second opinions."...

"I make no pretense of omniscience," wrote oncologist Jerome Groopman, MD, also a professor at Harvard Medical School, in his 2000 collection of clinical tales, Second Opinions: Stories of Intuition and Choice in the Changing World of Medicine. "Decisions about diagnosis and treatment are complex. There are dark corners to every clinical situation. Knowledge in medicine is imperfect. No diagnostic test is flawless. No drug is without side effects, expected or idiosyncratic. No prognosis is fully predictable."

Nevertheless, when Dr Groopman was asked by a former college classmate to render a second opinion on her ailing father, who turned out to have a rare form of leukemia, and he discovered that the father's physician had misdiagnosed his patient and as a result had proposed a treatment plan that was downright "dangerous," he walked on eggshells when breaking the news.

Physicians, even those of Dr Groopman's reputation, may be loath to criticize other physicians. A second opinion that not just differs from but invalidates the first opinion may not go over well.
"Interesting," the patient's doctor muttered, after Dr Groopman had bent over backward to be diplomatic in conveying the correct diagnosis.  It did no good. "His tone sharpened," Dr Groopman recalled. After that, "A heavy silence hung between us." And later, as the physician stubbornly defended to his treatment plan: "It was no longer a skirmish. It was war."..

Another study, published this year, examined the impact of an expert second opinion on medical outcomes. The researchers collected data on over 1000 cases over a 3-year period. They found that almost 77% of medical interventions led to changes in diagnosis, treatment, and/or the treating physician.

"There's a diversity of opinion on the subject, which shouldn't surprise us," Dr Miller says. "I have patients who have been told that there was no need to get a second opinion. From my perspective, if a physician tells someone there's no need for a second opinion, it's a good indication that you need a different doctor."

In Dr Miller's experience, misdiagnosis or mistreatment accounts for a minority of second opinion requests. "I see a lot of patients for second opinions," she says. "Only about 20%-25% of the time would I recommend a treatment different in some way than what they've had before."

Most patients who come to Dr Miller seeking a second opinion do so for two reasons: "They didn't feel like their doctors were listening to them and hearing their concerns, and I gave them a better, more complete explanation of their situation and treatment options. I hear that a lot from people for whom I did not recommend any different treatment. They were getting exactly the right therapy. But they didn't feel like they got a thorough discussion or a good education about their situation and their options. They were told: 'This is what you have, and this is the treatment. You'll come in on Monday and do this, and then on Friday you'll do that.' There was no sense that anything else was considered. They wanted to know: 'Why is this the best treatment for me?'"

See:  http://www.medscape.com/viewarticle/845790_3

Childhood headache and MRI

Similar to my own experience.  No patient without examination findings had cerebral MRI abnormalities relevant to headache.

Childhood headaches and brain magnetic resonance imaging findings.
Eur J Paediatr Neurol. 2014; 18(2): 163-70 (ISSN: 1532-2130)
Yılmaz Ü; Çeleğen M; Yılmaz TS; Gürçınar M; Ünalp A
BACKGROUND: Headaches are common in children and brain magnetic resonance imaging (MRI) studies are widely used in everyday clinical practice because of increasing demands by parents.
AIM: To determine headache types and to evaluate the frequency and clinical significance of brain MRI abnormalities in children with headache.
METHODS: A total of 449 children (261 male and 188 female with a mean age of 11.16 ± 3.22 years) with headache were included into the study. The criteria defined by International Headache Society were used to classify the headache types.
RESULTS: The causes of headache were migraine in 247 (55.0%), tension-type in 133 (29.6%), secondary in 48 (10.7%), and unspecified headaches in 21 (4.7%) patients. Overall, 324 (72.2%) patients underwent cerebral MRI, which revealed abnormalities in 68 (21.0%) patients. Two (0.6%) patients had cerebral MRI abnormalities relevant to headache, including tumor and hydrocephalus each 1 (0.3%). Twenty-nine (8.9%) patients had incidental cerebral MRI abnormalities including 14 (4.3%) white-matter hyperintensities, 4 (1.2%) old infarcts, 3 (0.9%) Chiari malformations, arachnoid cysts and demyelinating lesions each 2 (0.6%), and subdural hygroma, fibrous dysplasia, pineal cyst and perivascular widening, each 1 (0.3%). Remaining 36 (11.1%) patients had extra-cerebral MRI abnormalities including 34 (10.5%) sinus disease, and 2 (0.6%) adenoid vegetation. Indications for brain MRI were atypical headache pattern or presence of neurologic abnormalities in 59 (18.2%) patients and parents' concerns in 265 (81.8%) patients. The rates of abnormal MRI findings were similar between these 2 groups.
CONCLUSIONS: The most frequent cause of headache in children is migraine. Despite the high rate of imaging abnormalities, the yield of brain MRI is not contributory to the diagnostic and therapeutic approach.
Excerpts from the article:  In the patients with Chiari type I malformation, a neurosurgeon was involved in the evaluation, and headache was not found attributable to Chiari malformation in any of the patients.
While both 2 patients with cerebral abnormalities relevant to headache underwent brain MRI because of the presence of abnormal neurological findings, clinically significant incidental cerebral abnormalities were found in patients underwent brain MRI due to parents' or patients' concerns for an underlying brain disorder.
See here:  Incidental MRI findings in children  April 9,2015

Internet advice for physicians

Are Evil People Influencing Your Patients?
Arthur L. Caplan, PhD

If you were to draw up a list of who belongs in Dante's Seventh Circle of Hell, you might put in some of your enemies. You might put in certain athletes that play for teams you don't like. But I have another candidate for you: Belle Gibson.

Belle, an Australian woman somewhere in her 20s (she doesn't even tell the truth about that), had a very active website where she claimed that she had beaten multiple forms of cancer by eating right and living healthy. She had an app you could download to tell you how to do this; she had a cookbook that told you what to eat; and she had hundreds of thousands of followers on Facebook, Instagram, and other social media sites who took her very seriously.

But Belle did not have cancer and she was full of malarkey. Her diets were not based on anything of value. It is not even clear that she herself followed her diets. In fact, she was a complete fraud. The reason I say she belongs in the Seventh Circle of Hell is that she led many people to believe they could beat cancer by eating what she said to eat. There is no evidence that you can get rid of cancer through your diet. Certainly, she deceived people into spending a lot of money on her books and dietary advice, and she persuaded a lot of people that the way to fight disease is to breathe healthy air and live a healthy lifestyle, which is not a bad thing to tell patients, but it is not good to tell patients that this will fight cancer.

She appears at a time when we are struggling to decide what to do about misinformation on the Internet. Many others, such as the Food Babe, who has been touting all kinds of healthy diet stuff, and even the much maligned Dr. Oz, who has been selling quick-fix solutions to obesity, are telling people that there are magic beans and super-duper extracts that can solve all manner of health problems...

It is time for doctors to get into this with their patients. You need to ask them what they are looking at on social media. Find out how they have changed their lifestyles and whether they are using supplements or taking things you should know about. Then you should challenge them by noting that, more and more, we are finding out that what looks good and easy and simple is not, and those who use social media and the Internet to tout these "cures" to make a buck are not where you should go for trusted information.
Physicians need to know where to send patients for reliable information.  Know the websites, find out about social media so that you can say, "Here is a vetted source from the American Cancer Society or the American Medical Association (or other expert professional groups) to help you deal with diseases." Do not leave your patients hanging, relying on whatever it is that pops up in the top 10 Google searches.

See:  http://www.medscape.com/viewarticle/845678?src=wnl_edit_bom_weekly&uac=60196BR&impID=745819&faf=1

Saturday, June 27, 2015

Physician-physician communication

Poor communication between doctors and patients, and between doctors and nurses, is discussed relatively frequently. But what about confusion between the teams of doctors who share patients in the hospital or clinic? 
I have seen this happen numerous times during my nascent medical career. Understandably, it is infuriating to patients and their families. It can also prove dangerous.
Miscommunication between a patient’s physicians is a major contributor to treatment and diagnostic mistakes. And too often, doctors who care for a patient in the hospital fail to communicate at discharge with the patient’s primary care provider, sowing confusion about what happened in the hospital and the plan moving forward.
A few months after the patient with liver failure passed away, I was caring for a middle-aged woman with metastatic cancer who was in the hospital for pain that had rapidly worsened. Images of her bones showed numerous fractures, and tumors had mangled her skeleton. As part of the medicine team, I worked with four groups of caregivers to figure out how best to treat her bone problems and minimize her pain.
As I approached her bedside one morning, she glared at me. Her pained grimace had turned to anger.
“Three different people came into my room this morning before you did, and all of them told me different things!” she sputtered. Each had recommended a different sort of procedure, she said, and it didn’t appear that any of them had discussed the options with each other – or the patient’s main doctors – beforehand.
After that, her nurse and I worked together to minimize visitors to her room so her primary physicians could synthesize the other teams’ suggestions into one cohesive plan. That greatly decreased her frustration and confusion, which allowed us to better evaluate her treatment preferences and needs.
As doctors, we place much emphasis on working with our patients to choose the right combination of interventions, and rightfully so. Yet I have seen that despite best intentions, patients and loved ones sometimes hear conflicting messages from caregivers about these plans.
In truth, medical care often entails myriad moving parts, which means the plan for diagnostics or treatment may change. Yet sometimes the way to avoid mixed messages is as simple as fostering a discussion between all members of the care team. Although medical knowledge is important, simply communicating amongst ourselves is a critical part of serving our patients – and one that is too often forgotten.
See:  http://well.blogs.nytimes.com/2015/06/18/when-doctors-dont-talk-to-doctors/?smid=pl-share&_r=0
Courtesy of Doximity

Friday, June 26, 2015

Alternatively diagnosed chronic Lyme syndrome

Detailed clinical and laboratory evaluation cannot distinguish alternatively diagnosed chronic Lyme syndrome (ADCLS) diagnosed by alternative laboratory methods from chronic fatigue syndrome (CFS), according to a case-control study published online June 16 in Clinical Infectious
Diseases. The investigators note that symptoms of ADCLS are often similar to those of CFS, and that the incidence of Lyme disease is low in British Columbia, where the study took place.

"Amongst patients reporting a diagnosis of Lyme disease, we observe four distinct groups, largely differentiated by the method of diagnosis," write David M. Patrick, MD, from the School of Population and Public Health, University of British Columbia, and the British Columbia Centre for Disease Control, both in Vancouver, Canada, and colleagues. "One of these is the controversial category of [ADCLS], in which diagnoses are made on clinical grounds supported not by testing at a regional reference laboratory, but rather by western blot testing performed at an American non-reference Lyme specialty laboratory (Lab A). Such tests have been the subject of warnings with respect to their accuracy, offer no benefit in finding Lyme disease when it is present, and may produce false positive results for more than 50% of people without Lyme disease who are tested."

The investigators compared 13 cases with ADCLS, of whom 12 were diagnosed by one alternative US laboratory; 25 cases with CFS; 25 matched healthy controls; and 11 controls with systemic lupus erythematosus. Measurements included history and physical examination, screening laboratory tests, seven functional scales, reference serology for Lyme disease using CDC criteria, reference serology for other tick-associated pathogens, and cytokine expression studies...

Reference laboratory testing did not confirm positive Lyme serology in any of the ADCLS cases. Furthermore, the groups did not differ in distribution of positive serology for other tick-transmitted pathogens or in cytokine expression...

"Lyme disease diagnosed by alternative laboratory methods is indistinguishable from [CFS] by detailed clinical and laboratory evaluation," the study authors write...

"Those diagnosed with ADCLS deserve comprehensive work-up and care," the study authors conclude. "Many will meet case definitions for CFS and should be included in studies employing metagenomics, transcriptomics and other approaches in the search for a more plausible etiology."

See:  http://www.medscape.com/viewarticle/846997??src=wnl_edit_medn_wir&uac=60196BR&spon=34&impID=746077&faf=1

Patrick DM, Miller RR, Gardy JL, Parker SM, Morshed MG, Steiner TS, Singer J,
Shojania K, Tang P; Complex Chronic Disease Study Group. Lyme Disease Diagnosed
by Alternative Methods: A Common Phenotype with Chronic Fatigue Syndrome. Clin
Infect Dis. 2015 Jun 16. pii: civ470. [Epub ahead of print]

Mystery illness

When their daughter Tziporah began falling, Esther and Arthur Herzfeld wondered at first if her shoes didn’t fit right or whether she was just clumsy.

Over a decade, however, each of the Teaneck couple’s four children began stumbling so frequently that it was clear that something was frighteningly wrong. The falling was scary enough, but as the children each reached the point where they could no longer pick themselves up, the feeling of utter helplessness was almost too much for them, or their parents, to bear.

The Herzfeld children — first Tziporah, now 22, followed by Tzvi, 18, Racheli, 15, and finally Rivka, the oldest at 23 — have progressively lost muscle tone and function, including the ability to walk properly or take on simple, everyday tasks, from washing their hair to buttoning their shirts. Tzvi relies on a motorized wheelchair to get around, while his sisters walk slowly and carefully, with the terrifying knowledge that they could fall at any moment, unable to get up on their own

The predicament — which experts say is exceptionally rare — has consumed the family financially and emotionally. It has stumped about a dozen doctors and specialists who, to the Herzfelds’ frustration, haven’t been able to say much definitively other than the children all have the same degenerative muscular condition...

After a decade of doing little to draw attention to themselves or their situation, the Herzfelds are now raising money online to get the assistance they need to continue to care for their children. Meanwhile, they are eagerly awaiting the results of more specific and expensive genetic tests that they hope will pinpoint the cause behind the debilitating and evolving symptoms.
We don’t know what the end game is, and that’s very stressful and upsetting to everybody,” Esther Herzfeld said...
For the family, it is important to receive a definitive diagnosis. That way, the children can benefit should a cure be discovered, said Esther Herzfeld, who scours the Internet for promising clinical trials or breakthrough treatments.
That is particularly true for Rivka. There was a time when her parents wondered whether she, as the oldest and the last to develop symptoms, might have avoided the disease. Now she has thrown herself headlong into a search for a diagnosis, agreeing to undergo expensive tests at a time when she is still adjusting to living with the condition.
“At least for me, I need to know a name because a question mark isn’t really doing it for me,” said Rivka, who wears a silver pendant around her neck that is engraved with her favorite Hebrew scriptures, reminding her to stay strong and focused.   
Before her children began falling, Esther Herzfeld recalled, each started walking abnormally — at different ages and in different ways.
Tziporah was the first. When she was 11, she began putting her toes down first instead of her heel with every step. Then Tzvi, in middle school, started favoring the sides of his feet when he walked. Racheli began tiptoeing in the first grade. Finally, Rivka developed what her mother described as a “chunky” walk late in high school.

Tzvi’s symptoms progressed the fastest. Within about a year, he went from being an active young boy to needing a wheelchair to get around. Racheli uses a scooter, but only at school.

“Imagine being completely healthy one day, and then one day you go to sleep, you wake up, you start walking funny and within the next year you can’t walk anymore,” Tzvi said.

All of these distinctive gaits, Esther Herzfeld said, were actually early signs of muscle weakness in their feet. What followed was a long and frustrating effort to improve the children’s mobility and pinpoint a diagnosis — a journey that involved consultations with about a dozen doctors, including pediatricians, neurologists and geneticists, across North Jersey and at the best hospitals in New York City...

Arthur (father), who used to be in the jewelry business, has been sidelined by a chronic illness that he declined to discuss in detail...

“We believe in miracles because we don’t have any options,” she said.

Esther Herzfeld described her children as “fiercely independent,” determined, and unwilling to accept help unless it’s absolutely necessary. This summer they will celebrate three graduations: Rivka’s from Yeshiva University’s Bernard Revel Graduate School of Jewish Studies with a master’s degree in Bible studies; Tziporah’s from Yeshiva University’s Stern College for Women with a sociology degree; and Tzvi’s from Teaneck High School, with aspirations to become an attorney. Racheli, meanwhile, will be a sophomore at Ma’ayanot in the fall and dreams of becoming a writer.

“We’re down,” Rivka said with a smile. “But we’re not out.”

See:  http://www.northjersey.com/news/one-by-one-teaneck-siblings-were-rendered-helpless-1.1360036

See also:  https://www.youtube.com/watch?v=wWKvmsSB19w                 

Thursday, June 25, 2015

Justina's law

Hoping to make parents the arbiter when medical professionals disagree about the care of a child and to avoid the repeat of a saga that embroiled the state's child protection department and a family from Connecticut, lawmakers on Wednesday pushed for "Justina's Law."   The bill filed by Republican Rep. Marc Lombardo, of Billerica, would also prohibit parents from being charged with abuse or neglect if they are following a lawful course of treatment recommended by a medical or mental health provider.

Justina Pelletier, who was under treatment for mitochondrial disease at Tufts Medical Center, was transferred to Boston Children's Hospital in February 2013, where medical staff there made a different diagnosis and ultimately ended her medication regime and moved her to a psychiatric unit, her father Lou Pelletier told the Judiciary Committee.   Relaying events that were covered in the media and drew national attention, Pelletier said he and his wife were ordered out of Children's Hospital when they attempted to return their daughter to Tufts, and the Department of Children and Families gained custody of her.   In June 2014, Justina, now 17, was allowed to return home. Pelletier credited his violation of a gag order issued by a judge with raising the public profile of the case and creating political pressure that resulted in the agreement.   "Her physical condition was allowed to deteriorate," Pelletier told the committee. He said, "They say I won. I got my daughter back, but I didn't get my same daughter."

Philip Moran, a Salem attorney who represented the Pelletiers in 2014, said the U.S. Supreme Court and the state Supreme Judicial Court have "repeatedly said that parents have a fundamental constitutional right" to choose medical treatment for their children "without unjustified government intrusion."
Rep. James Lyons, an Andover Republican whose district includes Tewksbury, prompted some of Pelletier's account with questions from his seat on the committee.

Read more: http://www.lowellsun.com/news/ci_28379124/gop-lawmakers-parents-should-decide-care-if-child#ixzz3e5ZTQH2c

Wednesday, June 24, 2015

Sound familiar?

In late March, the singer Joni Mitchell was found unconscious at home and rushed to a Los Angeles hospital. In celebrity-obsessed Tinseltown, this was front-page news.

Fortunately, Mitchell recovered quite rapidly, but her hospitalization brought to mainstream attention a hitherto obscure ailment that has been dubbed "Morgellons disease." Sufferers report intense itching, a sensation that something is crawling under their skin, and lesions that will not heal, and that fibers extrude from their sores. Often, these mysterious chronic symptoms are accompanied by listlessness, chronic fatigue, and problems with memory and concentration.

Middle-aged white women seem particularly prone to the condition, and among those afflicted with it, the usual suspects are invoked to explain what is going on: an autoimmune disease; Lyme disease; environmental pollution; viral infections; or that all-purpose bogey that circulates in some circles, the side effects of vaccines...

The researchers could find no evidence of bacterial, fungal, or parasitic infection, and concluded that Morgellons was instead a psychiatric disorder, "similar to more commonly recognized conditions, such as delusional infestation" (an unshakeable yet erroneous delusion that one's skin is infested with bugs or parasites). The CDC pronounced the issue closed as far as it was concerned, archived the study for historical purposes, and declined to take matters any further.

The Morgellons community has not been amused, to put it mildly. They denounce the medical establishment in harsh terms (a representative headline is "CDC Creeps Formally Call Morgellons An Hallucination"), and many invoke conspiracy theories to explain findings they cannot accept. The idea that they suffer from a psychiatric condition, not a "real" physical illness, is anathema to them, and websites have proliferated to advance the cause.

Victims travel from doctor to doctor seeking validation that their condition is "real." A handful of physicians have accepted their claims and are embraced by the community, who rush to be treated by them and to cite their opinions—the only problem being that some proffer antifungal therapies and others antibacterial or antiparasitic pills, whereas still others urge a regimen of "natural" foods and detoxification via the wonders of colonic irrigation. Adding to the sense of confusion, these medics' theories of what precisely is organically wrong run the gamut, with their only common feature being an insistence that the disease has organic roots...

Morgellons disease has no characteristic laboratory abnormalities, suggesting that it is a form of psychiatric disorder. No obvious and uncontested biochemical or metabolic abnormalities correspond to patients' subjective symptoms. Nor does this condition correspond to any known neurologic disorder. Sufferers complain of muscle pain, persistent headaches, unrefreshing sleep, sore joints and throats, impaired memory and generalized malaise, not to mention impaired ability to think and to concentrate—and even this extensive list fails to include the full panoply of symptoms some patients experience.

What are we to make of it all? It is clear what those complaining of this syndrome want. Bitterly, the fatigued denounce their critics, the worst-placed rattling their wheelchairs in lieu of shaking their fists, accusing doctors of being "lamentably ignorant of the most basic facts of the disease." Proudly they rededicate themselves to what one of the targets of their ire, the British psychiatrist Sir Simon Wessely, has suggested that they consider: "the long uphill battle against ignorance and inertia."

Pesticides, hormones, chemicals, bacteria, viruses: Something must surely be responsible for these patients' suffering, and if modern medicine pronounces itself unable to oblige with a physical account of their troubles and proposes to ship them off to the tender mercies of the psychiatric profession, then they are off elsewhere. Off to self-help or to holistic practitioners, who are happy to display more sympathy and faith in the physical reality of their disorder, and to link it to the perils of civilization, only this time in the guise of a poisoned modern environment. Off to online support groups, where they can multiply their tales of woe and sense of grievance.

The verbally and sometimes (ironic as that would be) almost physically violent response of many of these patients to the suggestion that their symptoms are psychosomatic, or "all in their heads," is impossible to miss. Those who question their insistence that their disease is "real"—that is, rooted in the body—are deluged with abuse.

Wessely, for example, who was last year's president of Britain's Royal College of Psychiatrists, once worked extensively on chronic fatigue syndrome. Although he was willing to consider the hypothesis that viral or other unknown infections might initially trigger the disease, he proclaimed that psychological and social factors were far more important in perpetuating it, and that it largely resulted from dysfunctional illness beliefs and coping behaviors. His reward was to be inundated with abuse and personal attacks, even threats on his life. His mail has had to be X-rayed, and at times he has had police protection. Not entirely surprisingly, he has ceased further research on the subject.

Dubbed by the tabloids "the most hated man in Britain," Wessely's experiences are testimony to how desperately many of the afflicted want a neurologic diagnosis. That diagnosis will validate the reality of their disorder, and legitimize their suffering. But the neurologists who have grown to professional maturity in the post-Charcot world evince little or no interest in their troubles. Pausing only long enough, in the most plausible of cases, to subject them to batteries of tests and scans before pronouncing them physically normal, they suggest these nuisances go to see a shrink. That, as we have seen, is the last thing these patients want.

See:  http://www.medscape.com/viewarticle/846544_2?nlid=83080_3001

Septicemic plague

The Centers for Disease Control and Prevention is trying to determine how prevalent the plague is in a rural area of northern Colorado where a 16-year-old boy died of the disease.

Taylor Gaes of Livermore died June 8, but the cause was only made public late Friday when health officials, at the urging of the boy’s parents, put out a warning to make sure others who may have visited his family’s rural home northwest of Fort Collins hadn’t been sickened by fleas that could have infected him...

Gaes likely was infected with a rare form of the disease, septicemic plague, by fleas that put the bacteria directly into his blood stream, making it difficult to spot in time to stop its spread...

Cases of the plague are rare and deaths are even rarer. Nationally, an average of seven human plague cases is reported each year, with an average mortality rate of 11 percent, according to the CDC.

The most common form, bubonic plague, affects the lymphatic system, producing tell-tale swelling of the lymph nodes. All types can be treated and cured when antibiotics are given soon after infection, but all of them are deadly when treatment is delayed.

See:  http://www.washingtonpost.com/national/health-science/cdc-tests-for-plague-in-northern-colorado-after-teens-death/2015/06/23/6c5437b6-1a0a-11e5-bed8-1093ee58dad0_story.html
Courtesy of:  http://www.medpagetoday.com/InfectiousDisease/GeneralInfectiousDisease/52276?isalert=1&uun=g906366d4199R5793688u&xid=NL_breakingnews_2015-06-24

Tuesday, June 23, 2015

West on West syndrome

I am in possession of a photocopy of the original 1841 Lancet article (the adjacent article is Epistaxis-Plugging the Nares with Putty).  Try as I might, I could not get it imported into the blog.  [Addendum 9/13/17--see http://childnervoussystem.blogspot.com/2017/09/dr-wests-letter-to-lancet.html] Anyone desiring the photocopy, with copious underlining done by me, could contact me at gbreningstall@gillettechildrens.com.  I found that the text of the article was in Epileptic Disorders:

Duncan R. Infantile spasms: the original description of Dr West. 1841. Epileptic Disord. 2001 Jan-Mar;3(1):47-8.. 

On a peculiar form of infantile convulsions
West WJ

Lancet 1841 ; 1 : 724
Sir: I beg, through your valuable and extensively circulating Journal, to call the attention of the medical profession to a very rare and singular species of convulsion peculiar to young children. As the only case I have witnessed is in my own child, I shall be very grateful to any member of the profession who can give me any information on the subject, either privately or through your excellent Publication.

The child is now near a year old; was a remarkably fine, healthy child when born, and continued to thrive till he was four mounths old. It was at this time that I first observed slight bobbings of the head forward, which I then regarded as a trick, but were, in fact, the first indications of disease; for these bobbings increased in frequency, and at length became so frequent and powerful, as to cause a complete heaving of the head forward towards his knees, and then immediately relaxing into the upright position, something similar to the attacks of emprosthotonos: these bowings and relaxings would be repeated alternately at intervals of a few seconds, and repeated from ten to twenty or more times at each attack, which attack would not continue more than two or three minutes; he sometimes has two, three, or more attacks in the day; they come on whether sitting or lying; just before they come on he is all alive and in motion, making a strange noise, and then all of a sudden down goes his head and upwards his knees; he then appears frightened and screams out: at one time he lost flesh, looked pale and exhausted, but latterly he has regained his good looks, and, independent of this affection is a fine grown child, but he neither posseses the intellectual vivacity or the power of moving his limbs, of a child of his age; he never cries at the time of the attacks, or smiles or takes any notice, but looks placid and pitiful, yet his hearing, and vision are good; he has no power of holding himself upright or using his limbs, and his head falls without support.
Although I have had an extensive practice among women and children, and a large circle of medical friends, I have never heard or witnessed a similar complaint before. The view I took of it was that, most probably, it depended on some irritation of the nervous system from teething; and, as the child was strong and vigorous, I commenced an active treatment of leeches and cold applications to the head, repeated calomel purgatives, and the usual antiphlogistic treament; the gums were lanced, and the child frequently put into warm baths. Notwithstanding a steady perseverance in this plan for three or four weeks, he got worse, the attacks being more numerous, to the amount of fifty or sixty in the course of a day. I then had recourse to sedatives, syrup of poppies, conium, and opium, without any relief: at seven months old he cut four teeth nearly altogether without any abatement of the symptoms, and, up to this period, he was supported solely at the breast; but now, at the eighth month, I had him weaned, as he had lost flesh and appeared worse; I then only gave him alteratives, and occasionally castor-oil. Finding no benefit from all that had been done, I took the child to London, and had a consultation with Sir Charles Clarke and Dr. Locock, both of whom recognised the complaint; the former, in all his extensive pratice, had only seen four cases, and, from the peculiar bowing of the head, called it the "salaam convulsion"; the latter gentleman had only seen two cases; one was the child of a widow lady, it came on while she was in Italy, and, in her anxiety, she consulted the most eminent professional gentlemen of Naples, Rome, Florence, Genoa, and Paris, one of whom alone seemed to recognise the complaint. In another case, mercury, corrosive sublimate, opium, zinc, and the preparations of iron, were tried without the slightest advantage; and, about six months from the commencement of the symtoms, a new one was added; there began a loss of motion, in the whole of the right side, and the child could scarcely use either arm, hand, or leg. Sir Astley Cooper saw the child in this state; he had never seen or heard of such a case, and gave it as his opinion, that "it either arose from disease of the brain and the child will not recover, or it proceeds merely from teething, and, when the child cuts all its teeth, may probably get well"; some time after, this child was suddenly seized with acute fever; the head became hot, and there were two remaining teeth pressing on the gums; the child was treated accordingly; leeches to the head, purged, and lowered; the gums were freely lanced; in a few days the teeth came through, and the child recovered, and from that time the convulsive movements never returned. Sir C. Clarke knows the result of only two of his cases: one perfectly recovered; the other became paralytic and idiotic; lived several years in that state, and died at the age of 17 years. I have heard of two other cases, which lived one to the age of 17, the other 19 years, idiotic, and then died. I wrote to Drs. Evanson and Maunsell, of Dublin; the former gentleman being in Italy, the latter very kindly replied, he had seen convulsive motions in one finger, arm, or leg, but had never witnessed it to the extent of my poor child. As there has been no opportunity of a post-mortem examination the pathology of this singular disease is totally unknown.
Although this may be a very rare and singular affection, and only noticed by two of our most eminent physicians, I am, from all I have learnt, convinced that it is a disease (sui generis) which, from its infrequency, has escaped the attention of the profession. I therefore hope you will give it the fullest publicity, as this paper might rather be extended than curtailed. I am, Sir, one of your subscribers from the commencement, your faithful and obedient servant,
 W.J. West
Tunbridge, Jan. 26, 1841.
P.S. - In my own child's case, the bowing convulsions continued every day, without intermission, for seven months; he had then an interval of three days free; but, on the fourth day, the convulsions returned, with this difference, instead of bowing, he streched out his arms, looked wild, seem to lose all animation, and appeared quite exhausted.
Duncan continues:  When we read an old medical text, we have the comfortable perspective afforded by the advanced state of modern medical knowledge. We might look with amused condescention on the state of medical knowledge of a former time: the terminology is archaic, the treatments bizarre. We may be surprised when we see clinical descriptions of high quality, but of course we should not be. Doctors of past eras had no scans or tests, and relied entirely on their clinical acumen for diagnosis: one should expect their powers of observation and description to be better than ours, not worse. West's letter to the Lancet illustrates this dichotomy nicely. It contains a strikingly clear and accurate description of the clinical manifestations of the neurological disorder which we recognise a century and a half later. This description is nonetheless set in the midst of accounts of antiphlogistic treatments, leeches, gum lancings, corrosive sublimates, cold applications to the head and warm baths. In this regard, it is ironic to reflect that if Master West's illness had occurred only a few years later, this list of 'bizarre' treatments might have included at least one familiar therapeutic measure: bromide was described as a treatment for epilepsy in 1857. Modern treatments might of course have helped the spasms, but the cognitive result would likely have been the same.
West's letter describes the functional neurological catastrophe which is in the process of overtaking his own infant son. To modern eyes, the style of the letter seems formal, and the clinical description is written with the observational sang-froid one might expect of a serious clinician. How- ever, his account of the lengths to which he went to find a diagnosis and treatment is evocative more of parental desperation than of academic interest. At the end of the letter, he pleads that the editor of the Lancet will give the "fullest publicity" to the illness he described. One way or another, his plea has surely been answered, and West's name became attached to the illness he described. For West, the price was high. One would guess from his letter that he would gladly have given up his place in history for the health of his son.
R. Duncan
See also:  Cone TE Jr. On a peculiar form of infantile convulsions (hypsarrhythmia) as
described in his own infant son by Dr. W.J. West in 1841. Pediatrics. 1970

Sunday, June 21, 2015

Medical marijuana revisited

From the YouTube blurb:  "After taking more than 22 pills a day, this father decided that enough is enough and gave his son marijuana extract... the results are mind blowing. Another human case to back up the science."

Courtesy of a friend.

Jayden has Dravet syndrome.  See:  https://www.facebook.com/jasonandjaydensjourney


See also here:  Minnesota medical marijuana 3/3/15, especially:  Medical marijuana--the Colorado experience.  http://extras.denverpost.com/stateofhope/#part3intro
See also here: Don't Bogart that candy, my friend... 4/24/15
See also here: Cannabis and stroke 2/25/15

Vegetative state

A Taiwanese student who "miraculously awoke" after being in a vegetative state for three months and after three years of rehabilitation, returned to National Pingtung University of Science and Technology to finish his university education and received personal greetings and encouragement from President Ma Ying-jeou Friday at his graduation ceremony...

The son of a farming family is the pride of his parents, in particular since he has been accepted by the university's graduate school to pursue studies in agribusiness management.

Yang fell into a coma following a car accident. Diagnosed as Glasgow Coma Scale 3, the NPUST junior was considered by doctors at first to be on the brink of brain death. When he awoke, the damage to his brain had led to difficulties in expressing himself and an inability to move...

Impressed by his willpower to return to school and his aspiration for a career in farming, Yang's parents not only helped arrange his rehabilitation but also accompanied him in the classroom to provide assistance.

See:  http://www.wantchinatimes.com/news-subclass-cnt.aspx?id=20150621000009&cid=1103

See: Traumatic brain injury 5/7/15
See also: http://abcnews.go.com/Health/wife-refuses-give-husband-coma-crash-wakes/story?id=30121297 (cited below under "Ten Years After Terri Schiavo, Death Debates Still Divide Us: Bioethicist" April 2, 2015 in the comment from April 7, 2015)

Friday, June 19, 2015

Wisdom tooth extraction with tragic consequences

With the school year out of the way, Eden Prairie High School junior Sydney Galleger went to the doctor to have her wisdom teeth removed.
The routine procedure turned tragic. Galleger went into cardiac arrest during the extraction last Tuesday, according to her mother.
By Friday, Diane Galleger wrote on her daughter’s CarringBridge site that Sydney “chose to be an organ donor when she got her driver’s license at age 16. … We are still in shock that this has happened, but knowing that a part of Sydney will live on and give someone else life, gives us some comfort.”
On Monday evening, Galleger’s family announced her death on the CaringBridge page. The diver on the high school swim team and Alpine skier was 17 years old...
Soon after Sydney was stricken, Diane Galleger wrote on CaringBridge that everything was going well with the procedure “until the very end, when her blood pressure shot up and her pulse dropped and then she went into cardiac arrest.”
“We still don’t know what caused this to happen, but it’s possibly pointing to an unknown heart condition,” Sydney’s mother said in the posting on the day her daughter was stricken.
By Friday, Diane Galleger wrote, the swelling in Sydney’s brain proved overwhelming.
“As we met with a team of Drs. and nurses at 3 a.m., they let us know there was nothing more that could be done,” Diane Galleger wrote. “As you can imagine, that was the most devastating news we have ever received. We want to rewind to [last] Monday, where we had our happy, healthy, funny, beautiful 17-year-old daughter.”

Thursday, June 18, 2015

Sicklick vomiting

Title as written in a patient questionnaire.

Lee J, Wong SA, Li BU, Boles RG. NextGen nuclear DNA sequencing in cyclic
vomiting syndrome reveals a significant association with the stress-induced
calcium channel (RYR2). Neurogastroenterol Motil. 2015 Apr 29. doi:
10.1111/nmo.12575. [Epub ahead of print]

Cyclic vomiting syndrome (CVS) is a common, frequently disabling, 'functional' condition characterized by recurring, stereotypical attacks of intense nausea, vomiting, and lethargy, with the essential absence of these symptoms between episodes. Although the pathogenesis of CVS is yet unexplained, evidence has accumulated which suggest pathogenic roles for stress-related, autonomic, neuroendocrine, and mitochondrial factors. The objective of this pilot study was to elucidate mechanism(s) by identifying genes involved in the presumed multifactorial pathogenesis of CVS.
In this pilot study, DNA from 75 unrelated CVS cases and 60 healthy controls were assayed by Courtagen Life Science's next-generation sequencing platform (nucSEEK ), including over 1100 nuclear-encoded genes involved with mitochondria, metabolism, or ion channels. Significant sequence variants were defined as evolutionary conservation at least to Xenopus (frog) per the UCSC Genome Browser.
The RYR2 gene, encoding a stress-induced calcium channel present in many neurons, was the only gene demonstrating a statistically significant difference in the proportion of conserved sequence variants among the groups (18/75 CVS, 24%, vs 3/60 controls, 5%; p = 0.0018, OR = 6.0, 95% CI = 1.7-22).
We propose a mechanism in which RYR2 sequence variants result in aberrant stress-induced calcium release into the mitochondria of autonomic neurons, resulting in an increased risk to develop autonomic/functional disease such as CVS, and related conditions such as migraine and gut dysmotility. This model incorporates the existing hypotheses regarding CVS pathogenesis into a cohesive mechanism, and might have treatment implications.

Tethered cord

Geyik M, Alptekin M, Erkutlu I, Geyik S, Erbas C, Pusat S, Kural C. Tethered cord syndrome in children: a single-center experience with 162 patients. Childs Nerv Syst. 2015 May 22. [Epub ahead of print]

Tethered cord syndrome (TCS) is not an uncommon clinical problem in children. The aim of this retrospective study is to document our experience on the surgical treatment of TCS in childhood.

The data of 162 children who underwent surgical treatment for TCS in a 15-year period were reviewed retrospectively. Their demographic, clinical, radiological, and surgical features were documented. They were divided into two groups as primary and secondary TCS, and the surgical technique for each group was demonstrated. Untethering the spinal cord and correction of the associated malformation were the standard surgical technique for each patient. The results of the treatment were summarized.
Among the 162 children, 101 (62.3 %) of them were female and 61 were male with a mean age of 62 months. Primary TCS was detected in 43 patients while secondary TCS was found in 119 (73.4 %) patients. Hypertrichosis was the most common physical finding while back pain was the common complaint. Lipoma, split cord malformation, dermal sinus tract, and myelomeningocele were the associated malformations for secondary TCS.
Children should be individualized for the treatment of TCS. Each patient must be evaluated neurologically and radiologically for the accurate diagnosis. Surgical untethering is the safe and effective method of treatment for children with TCS.

Primary TCS was detected in 43 patients while secondary TCS was found in 119 (73.4 %) patients. Among the patients with secondary TCS syndrome, lipoma was associated with lesion in 23 patients while SCM in 51 patients, dermal sinus tract in 18 patients, and previous operation for myelomeningocele and meningocele in 27 patients. Back pain was present in 86 patients in the preoperative period. Preoperative clinical findings were hypertrichosis in 57 patients, leg weakness in 29 patients, and urinary problems in 26 patients. Physical examination was normal in 97 patients. Back pain was improved in 53 (61.6 %) patients after surgery. Neurological improvement was observed in 5 (17.2%) patients while urological improvement was observed in 3 (11.5 %) patients.

Phenobarbital, neonatal seizures and cerebral oxygen metabolism

Sokoloff MD, Plegue MA, Chervin RD, Barks JD, Shellhaas RA. Phenobarbital and
neonatal seizures affect cerebral oxygen metabolism: a near-infrared spectroscopy
study. Pediatr Res. 2015 Jul;78(1):91-96.

Near-infrared spectroscopy (NIRS) measures oxygen metabolism and is increasingly used for monitoring critically ill neonates. The implications of NIRS-recorded data in this population are poorly understood. We evaluated NIRS monitoring for neonates with seizures.
In neonates monitored with video-electroencephalography, NIRS-measured cerebral regional oxygen saturation (rSO2) and systemic O2 saturation were recorded every 5 s. Mean rSO2 was extracted for 1-h blocks before, during, and after phenobarbital doses. For each electrographic seizure, mean rSO2 was extracted for a period of three times the duration of the seizure before and after the ictal pattern, as well as during the seizure. Linear mixed models were developed to assess the impact of phenobarbital administration and of seizures on rSO2 and fractional tissue oxygen extraction.
For 20 neonates (estimated gestational age: 39.6 ± 1.5 wk), 61 phenobarbital doses and 40 seizures were analyzed. Cerebral rSO2 rose (P = 0.005), and fractional tissue oxygen extraction declined (P = 0.018) with increasing phenobarbital doses. rSO2 declined during seizures, compared with baseline and postictal phases (baseline 81.2 vs. ictal 77.7 vs. postictal 79.4; P = 0.004). Fractional tissue oxygen extraction was highest during seizures (P = 0.002).
Cerebral oxygen metabolism decreases after phenobarbital administration and increases during seizures. These small, but clear, changes in cerebral oxygen metabolism merit assessment for potential clinical impact.

Wednesday, June 17, 2015

Brave new world

In September, 2011, Godelieva saw Distelmans at his clinic. Four months later, she sent an e-mail to her children: “I have filed a euthanasia request with Prof. Distelmans based on psychological distress. I have gone through the entire procedure and am now waiting for the result.”…

On April 20, 2012, three months after Godelieva sent the e-mail, Tom received a short letter from his mother that was written in the past tense. She reported that her euthanasia had been carried out on April 19th, at the university hospital of the Free University of Brussels. “I donated my body to science,” she wrote. On the back of the letter, she’d left the phone number of a friend who had the keys to her house.
Tom immediately drove to the house of the friend, who offered him a drink and then explained that she and her husband had driven Godelieva to the hospital. Tom accused the couple of coöperating with a suicide. They were defensive: they said that it was Godelieva’s choice, and they didn’t want her to have to take a taxi to the hospital alone. Later, they admitted to Tom that in the car Godelieva was chatting and laughing, and they had begun to wonder if they knew her as well as they’d thought...
De Wachter believes that the country’s approach to suicide reflects a crisis of nihilism created by the rapid secularization of Flemish culture in the past thirty years. Euthanasia became a humanist solution to a humanist dilemma. “What is life worth when there is no God?” he said. “What is life worth when I am not successful?” He said that he has repeatedly been confronted by patients who tell him, “I am an autonomous decision-maker. I can decide how long I live. When I think my life is not worth living anymore, I must decide.” He recently approved the euthanasia of a twenty-five-year-old woman with borderline personality disorder who did not “suffer from depression in the psychiatric sense of the word,” he said. “It was more existential; it was impossible for her to have a goal in this life.” He said that her parents “came to my office, got on their knees, and begged me, ‘Please, help our daughter to die.’ ”…
Belgium was the second country in the world, after the Netherlands, to decriminalize euthanasia; it was followed by Luxembourg, in 2009, and, this year, by Canada and Colombia. Switzerland has allowed assisted suicide since 1942. The United States Supreme Court has recognized that citizens have legitimate concerns about prolonged deaths in institutional settings, but in 1997 it ruled that death is not a constitutionally protected right, leaving questions about assisted suicide to be resolved by each state. Within months of the ruling, Oregon passed a law that allows doctors to prescribe lethal drugs for patients who have less than six months to live. In 2008, Washington adopted a similar law; Montana decriminalized assisted suicide the year after; and Vermont legalized it in 2013…
In Oregon and Switzerland, studies have shown that people who request death are less motivated by physical pain than by the desire to remain autonomous. This pattern of reasoning was exemplified by Brittany Maynard, a twenty-nine-year-old newlywed who moved to Oregon last year so that she could die on her own terms rather than allowing her brain cancer to take its course. Her story appeared on the cover of People, which described her as having the “soul of an adventurer and the heart of a warrior.” She became the poster child for assisted death—a far more palatable one than Jack Kevorkian, who had previously filled that role. Unlike the patients whom Kevorkian attended to with his makeshift “suicide machine,” Maynard appeared neither passive nor vulnerable. Since her death, seven months ago, lawmakers in twenty-three U.S. states have introduced bills that would make it legal for doctors to help people die…
“There’s a great difference between helping people who are already dying and helping people to die,” he told me. He didn’t understand why physicians were framing the latter as a patient’s right. “My colleagues are so against paternalism that they say, ‘You want to die? O.K., I’ll kill you.’ ”
See:  http://www.newyorker.com/magazine/2015/06/22/the-death-treatment
Courtesy of:  http://www.medpagetoday.com/HematologyOncology/BreastCancer/52169?isalert=1&uun=g906366d4159R5793688u&xid=NL_breakingnews_2015-06-17

Tuesday, June 16, 2015

The worth of Down syndrome

Upon delivering my first child 11 years ago, I heard the words “Down syndrome,” and my world collapsed. Visions of children sitting passively in a corner watching life go by, not participating, kept me awake those first nights as a mom.

It didn’t take me long, though, to figure out that my ideas were based on negative, outdated information that had nothing to do with the reality of life with Down syndrome today. My daughter April is an active, outgoing girl. She’s my nature child, wildly passionate about anything with four legs. Although April uses few words, she’s a master communicator. Through her, I’ve learned that Down syndrome is not the scary, terrible condition it’s made out to be.

But while governments (rightly) ban gender selection, selective abortion continues to be encouraged for children with Down syndrome. In the United States and abroad, screenings are a routine part of health-care programs, and the result is the near-elimination of these children.

When pregnant with my daughter Hazel, tests showed she, too, would be born with Down syndrome. I was shocked when an acquaintance asked me why I did not choose abortion — as if she were a mistake that could be easily erased...

The unspoken but obvious message is that Down syndrome is something so unworthy that we would not want to wish it for our children or society...

Recent research in Britain indicates that introducing the NIPT leads to a higher uptake of screening. With termination rates varying around the world from about 67 percent in the United States to an average of 92 percent in Europe, this will promote even more intensive de-selection of fetuses with Down syndrome, which in turn will negatively affect their position in society.

I don’t judge the women who make the choice to terminate. It must be hard to withstand the bias of medical professionals, people you trust most with your health and well-being, when you’re pregnant and vulnerable. A 2013 study reports that parents are 2.5 times more likely to have a negative experience on receiving the initial Down syndrome diagnosis than to have a positive one. One in four participants said they had been encouraged by a medical professional to abort, and many received inadequate information and little compassion...

Down syndrome does not cause human suffering. The real danger lies in voices that claim our children need to be tested before we can decide who is worthy of life. Women are not incubators of socially preferable descendants.

As a mom, former president of a Down syndrome society and spokesperson for Downpride, a grass-roots parent group, I find most people with Down syndrome possess an enormous zest for life, making them very pleasant company, and there are many firsthand accounts describing the ability of people with Down syndrome to bring simplicity and openness to communities. But these aspects of the condition remain understudied. One 2011 study did show that the brothers and sisters of people with Down syndrome overwhelmingly feel love and pride toward their siblings; participants also credited having a sibling with Down syndrome with enhancing their lives and increasing their empathy.

See:  http://www.washingtonpost.com/posteverything/wp/2015/06/16/down-syndrome-screening-isnt-about-public-health-its-about-eliminating-a-group-of-people/
Also see on this blog:  Tell me why  5/27/15

Go Noodle

Third graders at Fairley Elementary school kicked off a new district wide get moving and learn program called ‘Go Noodle.’

It’s an online suite of activity breaks or brain breaks.

There is research that shows when kids move during the school day, they are better behaved, better focused, their cognition is improved and overall they do better in school.

For three to five minutes, at different times of day, the students get busy.

They rev up and their brains and learning math terms at the same time.

Teacher Brittany Carmichael said ‘Go Noodle’ helps students and teachers, “By having them come in excited about learning, they’re more focused that way for me. I actually get to teach what I want to teach.”

The activities focus on core subjects like science and math.

Tazia Armour told us ‘Go Noodle’ is all about doing things she’s never done before, “When I found ‘Go Noodle’ I didn’t know how to count money, and now do.”

The program is free to every elementary school in Memphis thanks to Blue Cross/Blue Shield.

After one test, students stopped and had a dance break. It’s one of their favorites, and they get into it.

Ms. Carmichael said since implementing ‘Go Noodle,’ there is a marked improvement in students grades and desire.

“Every student is able to learn if we just put more efforts into what we do as far as engaging them in the subjects.”

See:  http://wreg.com/2015/01/15/students-use-go-noodle-to-get-their-noodle-ready-to-learn/
Got a classroom of wiggle worms? Start up GoNoodle. This online game creates an efficient and effective way to provide short bursts of physical exercise right in the classroom. For young children who need to burn up energy in order to concentrate on learning, this is a simple solution. The site is meant to be used for physical activity in five- to ten-minute bursts, particularly during transition periods...
GoNoodle is a great way to give kids a quick burst of physical activity, which can help keep them focused throughout a long academic day. Featuring a huge variety of activities, it allows teachers to include YouTube videos, such as the Just Dance videos, in their repetoire. The benefits of physical fitness and relaxation on learning are well documented, and GoNoodle provides teachers with a fun, interactive way to get kids moving. It's unlikely every kid will enjoy every activity, but in view of the large variety of activities, as long as teachers remember to mix things up, there should be an activity to appeal to every student.


Monday, June 15, 2015

The cerebellum and absence seizures

Kros L, Eelkman Rooda OH, Spanke JK, Alva P, van Dongen MN, Karapatis A,
Tolner EA, Strydis C, Davey N, Winkelman BH, Negrello M, Serdijn WA, Steuber V,
van den Maagdenberg AM, De Zeeuw CI, Hoebeek FE. Cerebellar output controls
generalized spike-and-wave discharge occurrence. Ann Neurol. 2015

Disrupting thalamocortical activity patterns has proven to be a promising approach to stop generalized spike-and-wave discharges (GSWDs) characteristic of absence seizures. Here, we investigated to what extent modulation of neuronal firing in cerebellar nuclei (CN), which are anatomically in an advantageous position to disrupt cortical oscillations through their innervation of a wide variety of thalamic nuclei, is effective in controlling absence seizures.
Two unrelated mouse models of generalized absence seizures were used: the natural mutant tottering, which is characterized by a missense mutation in Cacna1a, and inbred C3H/HeOuJ. While simultaneously recording single CN neuron activity and electrocorticogram in awake animals, we investigated to what extent pharmacologically increased or decreased CN neuron activity could modulate GSWD occurrence as well as short-lasting, on-demand CN stimulation could disrupt epileptic seizures.
We found that a subset of CN neurons show phase-locked oscillatory firing during GSWDs and that manipulating this activity modulates GSWD occurrence. Inhibiting CN neuron action potential firing by local application of the γ-aminobutyric acid type A (GABA-A) agonist muscimol increased GSWD occurrence up to 37-fold, whereas increasing the frequency and regularity of CN neuron firing with the use of GABA-A antagonist gabazine decimated its occurrence. A single short-lasting (30-300 milliseconds) optogenetic stimulation of CN neuron activity abruptly stopped GSWDs, even when applied unilaterally. Using a closed-loop system, GSWDs were detected and stopped within 500 milliseconds.
CN neurons are potent modulators of pathological oscillations in thalamocortical network activity during absence seizures, and their potential therapeutic benefit for controlling other types of generalized epilepsies should be evaluated.

Courtesy of a colleague.

Words, words, mouthy, mouthy

Although electronic notes have helped legibility, they have also led to the creation of voluminous notes that regurgitate data ad nauseam yet add little to medical understanding or patient care. Frequently, a seven-page consultant note can be distilled down to one-and-a-half lines of italicized print, entered by the consultant, in the last half-page of the note....

The explicit reason for the length of consult note is that the Centers for Medicare & Medicaid Services (CMS) and other payers peg their assessment of the amount of work done, and hence the valuation of the physician's work, to detailed, elemental narration of the history of present illness, medical and surgical history, review of systems, and examination. It remains beyond the capabilities of payers to truly understand the nuances of risk assessment and complexity of decision-making involved in patient care. Consequently, they reward the effort of dictation over the effort of abstraction. They reward the mechanics of the key logger over the mechanics of the thinking mind...

Ideally, a consultant's note should be concise as it addresses the issues of patient care. It should be brief and not duplicative, logically structured, and of educational value. Such a note is an effective note. It is not one that is "optimally reimbursed" by today's payers...

Done correctly, a consultant's note can challenge both the requesting and the providing physicians (or nonphysicians) to think more fully and broadly, improve patient care and outcomes, and reduce unnecessary testing or treatment while also being educational. Unless and until payers recognize that it isn't the length of the consult that matters as much as how the consult is created and used, the system as a whole and both patients and providers will continue to suffer.

The reality is that insurers also suffer under the current system. After all, they are paying for volumes of lower-quality information, much of which may be only cursorily reviewed, if not left unread.

See:  http://www.medscape.com/viewarticle/840561_2

Expensive prescription

When a CBS News employee was recently prescribed a nutritional supplement to boost his energy, he was astonished when he saw the claim the pharmacy submitted -- and his insurance approved -- for a one month supply: $44,707.

For the cost of a BMW convertible, he got 180 capsules of powdered resveratrol, an antioxidant found in red grapes, available at any local nutrition store.
In fact, two bottles of another brand of resveratrol contain roughly the same amount as the $44,000 prescription, which raises an even more puzzling question: Why does the over-the-counter resveratrol cost just $157.38?

We wanted to ask Warner West Pharmacy in Los Angeles -- the pharmacy that filled the prescription and submitted the claim -- why theirs cost so much more, but they declined our repeated requests for an interview...

"For $44,000 a month for a nutritional supplement -- I don't see what that could be other than a scam," said Dr. Jeff Blumberg, the director of the Antioxidants Research Laboratory at Tufts University and a leading expert on nutritional supplements.

"It's not the cost of the ingredients, it's not the cost of formulating them, it's not the cost of shipping them," he added. "This is thousands of times more expensive than what you can buy it for anywhere else."

In fact, you can buy it for thousands less at Warner West, the very same pharmacy that filled the $44,000 prescription.

Wearing hidden cameras, we asked their pharmacist about buying resveratrol without insurance and were quoted a very different price...

We wanted to ask CVS/caremark why they would ever pay that much for a non-FDA approved nutritional supplement, but they refused to discuss it on camera.

As for whether this is legal, there is no indication any law has been broken in this case. A lawyer for Warner West pharmacy told us Warner West submitted a government billing code. He said the insurance company arrived at $44,000 based on the manufacturer's recommended price associated with that billing code.

See:  http://www.cbsnews.com/news/prescription-resveratrol-supplement-expensive-investigation/
Courtesy of: http://www.medpagetoday.com/InfectiousDisease/GeneralInfectiousDisease/52133?isalert=1&uun=g906366d4144R5793688u&xid=NL_breakingnews_2015-06-15