Cookie Monster Is Not Autistic

In 1984, an article was written in the publication, Children Today, in which Cookie Monster was labelled by children with disabilities as autistic because he ate messy and only said "Cookie." Scientific understanding of this condition has greatly improved since then and at this point, I do not believe Cookie Monster would meet diagnostic criteria for autistic disorder (also known as autism).

RECOMMENDED BOOK: Autism: A Practical Guide for Parents

One of the essential criteria for autistic disorder is that the affected individual has a qualitative impairment in social interaction. This can be manifested by at least two of the following: a) marked impairment in nonverbal behaviors to regulate social interaction, b) failure to develop peer relationships appropriate to developmental level, c) lack of spontaneous seeking to share enjoyment, interests, or achievements with people (e.g., by pointing out objects of interest), or d) lack of social or emotional reciprocity.

Cookie Monster clearly demonstrates adequate social interaction. For example, in the interaction below with Kermit The Frog, he uses very good eye contact and hand gestures to facilitate communication. He clearly demonstrates social reciprocity in playing the guessing game with Kermit and it is clearly established in Sesame Street that he has developed good relationships with other Muppets such as Kermit, The Count, and Prairie Dawn.



The next criteria that would need to be met is a qualitative impairment in communication. This would be evidenced by at least two of the following: a) delay or total lack of the development of spoken language, b) marked impairment in the ability to initiate or sustain a conversation with others, c) stereotyped and repetitive use of language or idiosyncratic language, or d) lack of varied, spontaneous make-believe play or social imitative play appropriate to developmental level.

While Cookie Monster does have some problems speaking with proper grammar (e.g., “Me Want Cookie!”) he does not truly meet any of the criteria mentioned above. Someone may want to make an argument that his language is idiosyncratic and that he can sometimes be repetitive (e.g., “Om, om, om, om, om”) when he eats a cookie, but I just chalk that up to him being extremely happy that he is eating cookies. Clearly, Cookie Monster is very capable of carrying on lengthy conversations, initiating them (as he does in the video clip with Kermit), and sustaining them.

Lastly, to meet criteria for autistic disorder, Cookie Monster would need to have a repetitive or stereotypes pattern of behavior, interests, and activities, as manifested by at least one of the following: a) an encompassing preoccupation with one of more stereotypes and restricted pattern of interest that is abnormal in intensity and focus, b) an apparently inflexible adherence to specific, nonfunctional routines or rituals, c) stereotyped and repetitive motor mannerisms, and d) persistent preoccupation with parts of objects.

Cookie Monster can be said to meet some of the latter criteria (a and b) because he is clearly pre-occupied with cookies to an abnormal degree and it seems that he has to eat his cookies each day and is not too flexible on the matter. However, anyone can meet one or two criteria of various mental health disorders without having the condition of interest due to not meeting full diagnostic criteria. That is the case with Cookie Monster. I have not seen any convincing evidence that he meets criteria c or d.

So what does our furry little blue friend have wrong with him? Obsessive compulsive disorder (OCD) is technically possible in which his compulsive cookie eating may be a way to relieve anxiety caused by recurrent and persistent thoughts to devour cookies. However, to answer this would really require a good clinical interview with him to see if he meets all the criteria of true obsessions and compulsions. Furthermore, he would need to engage in compulsive cookie eating for more than an hour a day and we do not know if he does that. Another possibility is bulimia nervosa, in which someone binge eats a large amount of food and then uses inappropriate mechanisms to prevent weight gain, such as vomiting or laxative use. We have no idea if Cookie Monster is running to the bathroom afterwards but if he is trying to prevent weight gain, it does not seem that it is working as he does seem overweight.

My impression is that Cookie Monster has impulse control disorder not otherwise specified.  This is a failure to resist an impulse, drive, or temptation to perform an act that is harmful (e.g., causing obesity, diabetes mellitus) to the individual or others. Most people with this condition feel an increasing sense of tension or arousal before committing the act and then experience pleasure, gratification, or relief at the time of committing the act.

Related Blog Entry: Why Kermit the Frog Rules.

Whitney Houston Death Photo Is No Surprise

A major controversy has erupted over the National Enquirer publishing a supposed death photo of Whitney Houston on the cover. Some people are upset because they believe that it is disrespectful to the dead to publicize such photos. However, so many people have a fascination with death and morbidity that even though they may agree that there is something wrong with publicizing the photo, they will look anyway.

RECOMMENDED BOOK: Remembering Whitney

This is why people rubberneck at car accidents. They don’t really want to see an injury or death, but they look anyway. This public fascination with death is why we Michael Jackson’s death photos can be found on the internet, why there was a public broadcasting of the dead bodies of Saddam Hussein’s adult children, why the documentaries The Faces of Death were so popular, why horror movies are popular, and why there was a clamoring for the release of Osama bin Laden’s death photos, the latter of which the U.S. government did not release.

But back to Whitney Houston and the National Enquirer. This was all so predictable. It is well known in psychology that past behavior is a great predictor of future behavior. In 1977, the National Enquirer posted a death photo of another famous singer, Elvis Presley. As you can see from the photo below, even the same exact catch phrase (“The Last Photo”) was used on the cover:

A Doctor's Touching Experience on Ash Wednesday

Today is Ash Wednesday. Whether you are religious or not, below is a touching story of one medical doctor’s (Dr. Richard Pesce’s) experience on Ash Wednesday with a patient named Drew.

Entering the intensive care unit (ICU) to begin rounds after a weekend off call, I found a patient of mine had been admitted in respiratory distress. We had known each other since his coronary bypass surgery several months earlier. This surgery had been followed by multiple complications, including sternal breakdown due to staphylococcal infection. This was followed by four sternal repair attempts and finally omental flap closure before Drew could be weaned from the ventilator. The repairs were more difficult than usual because he had received radiation therapy to his mediastinal area for Hodgkin's disease many years before. This left him with a compromised blood supply to the sternum and a restrictive cardiomyopathy. After 2 months and many hours of worry on both sides, he could finally be discharged to home. He had been at the office a half dozen times since to control his pleural effusions by thoracentesis. The effusions finally began responding to combination diuretic therapy. The last time I saw him prior to admission he had improved and, although still weak, he was beginning to enjoy life and being with his family.

As I entered his ICU room I saw that things had quickly deteriorated. Staphylococcal endocarditis, acute and bacteremic, had taken hold. Drew looked gray, he was barely able to whisper, and his breath sounds were hardly audible.

"Drew, I have to help you breathe!"-he nodded in response. As we laid his head down for intubation he calmly submitted. I could not use any sedatives because of his hemodynamic instability. I needed to place an endotracheal tube and obtain venous access, but sternal surgery had caused contraction of his neck muscles, so no usual access was available. I continued, however, through radiation-toughened skin, and with care because his clavicles were out of alignment. I was able to obtain a femoral artery blood gas and place a femoral intravenous line. But I saw that this had caused him discomfort despite local anesthetic.

"My God," I thought. "I am taking part in a crucifixion." This man lay in front of me awake and suffering. I was unable to relieve his pain just then and had to continue to do procedures to stabilize him.

Drew's family had arrived, and quick exchanges took place. We had met many times before and had discussions regarding the "what ifs" of his condition. His family was wonderful and supportive. There was not anything they would not try to accomplish for their father and husband. His daughter asked if anything else could be done, knowing what the answer would be. (Even during his first surgery his aorta could not be cross-clamped because it was so friable. To attempt valve replacement was not possible.) As the patient's pressure continued to fall, episodes of bradycardia began. He would respond to boluses of epinephrine and then fade again. His wife asked that their priest be called to administer the Sacrament of the Sick and that comfort measures be taken.

They were. Father Mike arrived quickly. He had known this family for many years and had been in school with some of the children. As he began the service, Drew's family gathered at his bedside and prayed out loud the Lord's Prayer. Each person told Drew that he should feel free to go to his reward, thanking him for having loved and cared for them so well. As the priest continued the annointment, I could see the heart monitor record slower and slower beats. They all then kissed him goodbye. At the end of the last word of the last prayer the monitor became flatline. At 9:20 AM, it was over.

As the family said their last goodbye, each one thanked me for trying to help Drew. I was speechless. Seldom had I witnessed such closeness in a family, and seldom had I felt so powerless to do anything that may have been of benefit. Yet to have these people thank me was more than I could bear.

Later that morning, I attended the Ash Wednesday service at the hospital's chapel. Drew's family was there and Father Mike was saying the Mass. Ash Wednesday is the day most Christians begin to spiritually prepare themselves for the celebration of the death and resurrection of Christ on Easter Sunday. It culminates in the placement of ashes on the forehead to remind us that we are from the earth and shall return to it when we die. It is a time of sacrifice and reflection. I was the last person to receive the ashes. Father Mike looked at me and said, "From dust thou art and to dust thou shall return, Doctor."

As I acknowledged him, I thought, "Yes, I will accomplish this. But have I accomplished my mission 'To cure sometimes, alleviate suffering often, and comfort always'?" At that moment, Drew's wife approached me: "Thank you for always being there for us, you will always be in our prayers." At that moment my question was answered and doubt resolved.

On this Ash Wednesday, I felt the uplifting spirit of a family's love for their father and husband and the hope for a better life. I have been privileged. Thank you, Drew.

The above article is publicly available here.

Did Abraham Lincoln Have a Genetic Disorder?

February is a month where we not only celebrate the birth of George Washington, but also Abraham Lincoln. In a recent blog entry, I discussed some fascinating aspects surrounding Washington’s death. Today, attention turns to Abraham Lincoln. Unlike Washington’s death, many people are aware of Lincoln’s untimely demise via assassination.

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Many people are also aware that Lincoln had a distinguished yet unusual look about him. As you can see from the picture above, Lincoln’s distinguished look consisted of hollow eye sockets, long thin lips (with an m-shaped curve on the upper lip and a blubbery lower lip), and a long drawn out face. He was also tall (6’4), thin, and had large feet.

It has long been suggested that Lincoln had Marfan syndrome. Marfan syndrome is a genetic disorder of connective tissue which causes unusual tallness, long limbs, and long thin fingers and toes. Cardiac problems are common, with shortness of breath during exertion. While Lincoln was tall, he was not abnormally tall.  His fingers seemed proportional to his body (as is seen in the picture to his left) but did not look as long as what fingers typically look like in Marfan syndrome (see picture to the right). He was known as an excellent axeman, rail fence builder, and wrestler, which would have required good cardiac functioning. Geneticists now think it is unlikely that Lincoln actually suffered from Marfan syndrome.


More recently, a new theory emerged from Dr. John Sotos in a book known as The Physical Lincoln. The theory is that Lincoln actually suffered from a different genetic disorder that has skeletal features almost identical to Marfan syndrome, known as multiple endocrine neoplasia type 2B (MEN2B). Individuals with this condition tend to be tall, thin, with a long face, and protruding blubbery lips. All patients develop benign tumors of the mouth, eyes, and connective tissue that supports mucous membranes throughout the body. Cancer of the thyroid almost always occurs and cancer of the adrenal grand occurs in about half of the cases. Chronic constipation is a common symptom.

Lincoln clearly was tall and thin, had a long face, and protruding lips. Other characteristics Lincoln was known to have that occur in MEN2B include constipation, low muscle tone, lumpy lips, and possible cancer. The right cheek mole, facial asymmetry, droopy-eyelids, and depressive-like symptoms were also considered to be consistent with the diagnosis. Lincoln may have also grown a long beard later in life to cover up benign facial tumors. People with the condition usually die young, which is the main challenge to this theory. However, Dr. Sotos believes that Lincoln would have died within a year from cancer if he was not assassinated at age 56.

Genetic testing can confirm a diagnosis of MEN2B. The “problem” is that no one is going to allow for a U.S. President’s body to be exhumed (especially not someone as iconic as Lincoln) to test such a hypothesis. In addition, Lincoln’s coffin was encased in steel and concrete after a theft attempt and the last wishes of his family was for Lincoln’s body to be left alone. However, there is one other possibility where a DNA sample can be taken from: a blood stained Lincoln relic. One option was the bloodstained pillow (pictured below) that Lincoln laid on after being assassinated, which is stored in a Philadelphia museum. The museum eventually denied a request to test it.

Dr. Sotos eventually joined forces with a geneticist at the Cleveland Clinic (Dr. Charis Eng) and they were able to secure a sample of a dress worn by Laura Keen. Keen was an actress who rushed to Lincoln’s side after he was shot, causing blood stains to transfer to her dress. After months of work the testing was only able to find some genetic mutations that could be minor contributors to MEN2B but no conclusive evidence that he had the disease. Only by obtaining further samples from other sources will it be possible to come to a definitive answer.

Did Physicians Kill George Washington?

President’s Day, also known as Washington’s birthday, is a celebration of the life of George Washington. While it is well known that he was the first U.S. President, crossed the Delaware River, and helped defeat the British, many people do not know about the noble and fascinating medical aspects surrounding his death (see comparison story on Abraham Lincoln).

On December 12, 1799, Washington had been riding his horse at Mt. Vernon for a prolonged period of time (10:00 am to 3:00 pm) in cold weather and precipitation. He came in and ate dinner without changing his clothes. Washington denied that his clothes were wet but his secretary, Tobias Lear, stated his neck seemed wet and that there was snow in his hair. At night, he reportedly appeared well.

The next day, it snowed heavily. Despite developing a cold and sore throat, Washington still went outside to do some yard work. According to George Washington Custis (a relative), Washington came inside, developed chills and nausea in the afternoon, changed his wet clothes, and continued to work. At night, he did not feel well and drank a cup of tea to soothe his hoarse throat, which had worsened. Lear told him to take something for his cold at night, but Washington declined. He tried to rest at night, but he tossed and turned with fever and pain. He awoke his wife between 2 to 3 am to say he was sick. He could barely speak and had labored breathing. Despite his discomfort, he did not want outside help to be called because he did not want to disturb anyone else’s rest.

On 12/14/79, Washington allowed for help to be sought at dawn. Lear came to the scene and stated he could hardly utter an intelligible word. He requested that an employee be called to help him by bloodletting. Bloodletting was a common medical practice for over 2,000 years and involved drawing blood out of the patient’s body (usually through a vein in the arm or neck) with the hopes that it would cure or prevent disease by removing the offending agent. This ancient medical practice was based on the belief that a woman’s menstruation purged the body of bad substances. Despite the good intentions of bloodletting, it was usually harmful to patients. As such, it was not helpful to Washington and his conditions worsened.

A molasses-butter-vinegar mixture was prepared for his sore throat, but he could not swallow it. Any attempt to do so caused distress, convulsions, and near-suffocation. He was bled again. His wife tried to intervene, questioning whether this was appropriate treatment, but Washington insisted more blood be let out. After half of a pint of blood was removed, the blood letting was stopped as it provided no relief and his wife remained uneasy.

Since oral intake was impossible and the standard treatment of the day (bloodletting) was not working, his throat was gently bathed with a salve. His feet were bathed in warm water. neither treatment helped. Another doctor tried to treat his throat with a blister of Cantharides, more blood letting, and inhaling steam from water and vinegar. He almost suffocated when trying to gargle. As the day progressed, Washington did not speak much but stated he was very ill. He was bled two more times. The blood came out slow and thick at this point, but he did not faint. His multiple doctors then treated him with calomel and tartar emetic.

A book in 2002 entitled Doctors Killed George Washington alleged that doctors took a “mild” complaint and bled Washington to death. It has been suggested that the focus of bloodletting may have killed Washington by preventing a search for other remedies. However, Washington did not have a mild complaint, but had clearly been severely ill before the bloodletting. He likely became ill in the first place by making his body more vulnerable to illness after prolonged exposure to the winter elements. Third, other remedies were indeed tried as noted above and by Custis:

“The medical gentlemen spared not their skill, and all the resources of their art were exhausted in unwearied endeavors to preserve this noblest work of nature.”

While the bloodletting was clearly excessive and would not be done today, doctors were treating Washington with the limited medical techniques of colonial times and should not be accused of killing him anymore than doctors of today should be accused of killing patients who have incurable diseases with current technology yet attempt to treat it with methods that will be considered outdated hundreds of years from now.

At 4:00 pm, Washington provided instructions for his will and wake. He was in great pain and distress in the afternoon, had difficulty breathing, and was restless. When his secretary tried to reposition him for comfort, he was concerned about causing his secretary fatigue. He thanked his doctors and others for help but asked that they let him die in peace. Regardless, at 8:00 pm, the doctors tried to treat him with a hot medicated cloth and applied wheat brain to his legs and feet.

Custis describes Washington’s very last moments in such an elegant way that it would be a disservice to paraphrase it. As you will read, the founding father left the world between 10 and 11pm that evening in the noble way that he lived it,

“The patient bore his acute sufferings with fortitude and perfect resignation to the Divine will, while as the night advanced it became evident that he was sinking, and he seemed fully aware that 'his hour was nigh.' He inquired the time, and was answered a few minutes to ten. He spoke no more - the hand of death was upon him, and he was conscious that 'his hour was come.' With surprising self-possession he prepared to die. Composing his form at length, and folding his arms on his bosom, without a sigh, without a groan, the Father of his Country died. No pang or struggle told when the noble spirit took its noiseless flight; while so tranquil appeared the manly features in the repose of death, that some moments had passed ere those around could believe that the patriarch was no more."

The Heart Attack Grill

If you go to Las Vegas, one of the many restaurants you will encounter is the Heart Attack Grill. It is probably the most extreme and unhealthy place to eat in the United States and deliberately courts controversy with its use of extreme menu item names, unusual promotions, and unique themes. An example of the extreme food names include Flatliner Fries (French fries made with pure lard), Butter-Fat Shakes, and the Bypass Burger (which comes in Single, Double, Triple, or Quadruple Bypass sizes), the latter of which contains 12 slices of bacon, two pounds of beef, and four layers of cheese. No lettuce is allowed. Burgers can be as high as 8,000 calories (i.e., 4 days worth of calories in one burger). Obese customers over 350 pounds eat for free if they weigh in with a scantily clad “nurse” (waitress) or “doctor” (waiters). Orders are called “prescriptions” and customers are called “patients.” Finishing a triple or quadruple bypass burger allows customers to be wheeled out to their car by their own personal nurse. On 2/11/12, one customer was wheeled out a real stretcher when he suffered an apparent heart attack after eating a triple bypass burger.

The knee jerk reaction to the Heart Attack Grill concept is to either laugh or become angry. Either reaction plays into the hands of the owner (Jon Basso), which is to gain attention by purposely and cleverly courting public controversy by turning political correctness about medical issues on its face.

For those who are upset by the Heart Attack Grill concept, it is important to remember that the owner is at least being blatantly out front and honest about the food he serves, rather than other fast food restaurants that do not take this approach. For example, should you be more upset at The Heart Attack Grill’s Bypass Burgers that blatantly indicates how bad it is for you based or at Burger King’s Triple Whopper Sandwiches which requires some searching to find out that they are 1140 calories?

To be clear, I am not saying people should not be bothered about the Heart Attack Grill. Personally, I have mixed and vacillating feelings about it. On the one hand, it is certainly justified to be upset that someone would sell an 8,000 calorie menu item but on the other hand we do live in a free country where people have the right to eat unhealthy if they want to.

While eating one burger during your life time from the Heart Attack Grill on vacation will likely not kill you, eating these burgers on a regular basis likely will, a point the owner readily admits. However, if someone does dies from eating at the Heart Attack Grill regularly the primary blame falls to the patient for doing so despite knowing the risks. After all, the slogan of the Heart Attack Grill is “Taste Worth Dying For.” All of thie being said, Basso cannot absolve himself from all blame because he is peddling this type of extreme food to the public.

Ultimately, the success or failure of the Heart Attack Grill depends on market forces. That is, if enough people decided not to eat there due to the health risks, then the company will go out of business. If people flock to the restaurant, then it will flourish. It’s as simple as that. The Heart Attack grill has been open since 2006, indicating that the concept attracts customers.

Heart-shaped lesion in the brain: Neurosarcoidosis

Yesterday was Valentine’s Day. A day of love and happiness, often symbolized by Cupid, chocolate, and of course hearts. Just about everything you can imagine can be found in a heart shape for Valentine's Day. While heart-shaped objects are expected within this context, it is not something you expect to see when taking a picture of the inside of someone’s brain. But that is exactly what two neurologists from Baylor School of Medicine found when a 27-year old man underwent a brain MRI (magnetic resonance imaging) scan.

The picture to the left shows an axial slice of the brain, which is a top-down view. The heart shaped lesion (abnormal area) can be seen on the bottom. The picture to the right is a saggital slice of the brain, meaning it shows the brain from the side. The heart-shaped lesion is clearly visible in white towards the right of the image.

So what are these heart shaped areas? They are areas of inflammation caused by an inflammatory condition known as neurosarcoidosis. Headache is the most common symptom but seizures can also occur. Both occurred in this patient. The final diagnosis in this case was made upon a biopsy. The condition is treated with medications that reduce inflammation (corticosteroids) such as Prednisose but chemotherapy drugs or medications that suppress the immune system are used in some cases that do not respond to corticosteroids.

The reference for the study is: Suárez Zambrano GA, Hutton GJ. (2008). Heart-shaped lesion secondary to neurosarcoidosis.Arch Neurol. Oct;65(10):1388-9. The images are copyrighted by the American Medical Association.

The Trick to Low Sodium Chicken Soup

It’s winter in Syracuse in NY, and although it has been a very mild winter, a nice bowl of chicken soup always feels good this time of year. I headed off to the grocery store this weekend to make a batch of chicken soup for the family. Obviously, one of the key ingredients in chicken soup is broth. Chicken soup recipes almost always call for chicken broth and if you are not going to make your own broth, then you need to purchase some in the store. So I was looking at the sodium levels for every chicken broth brand I could find (including the one reduced sodium item), including those in the all-natural section of the store. On average, each product had about 500 mg of sodium per serving (some over 700 mg), with each product containing 4 to 5 servings. If you are making enough soup for a small family that means you will use about 24 ounces of broth. That translates to a whopping 4000 to 5600 mg of sodium in the soup, which is completely unnecessary.

Then I picked up a box of low sodium vegetable broth, which only contained 140 mg of sodium per serving with 4 servings per 12 ounce box. That’s only 1120 mg of sodium for 24 ounces of soup. Compared to 4000 to 5600 mg of sodium for chicken broth, that is a big difference. So, I figured why not just toss all the ingredients into the vegetable broth, let the natural juices of the chicken cook out, which would then make the broth taste like chicken broth anyway, with much less sodium. I tried it out and it was a rousing success. The broth was delicious, was infused with the juices of the chicken, and best of all, I knew I was feeding my family something much healthier. Please pass this on to others, try it yourself and comment here on how it went, and feel free to pass on your own health eating tips for others.

Progeria: Children with an Elderly Body

If you have ever seen the movie, The Curious Case Of Benjamin Button, you may have been under the impression that it has no connection to reality. In fact, however, there a medical condition known as progeria (technical name = Hutchinson-Gilford Progeria Syndrome).

RECOMMENDED BOOKS ON PROGERIA:

Old Before My Time: Hayley Okines' Life with Progeria
 
Old at Age 3, the story of Zachary Moore

Progeria comes from the Greek words “pro” meaning “before” and “geras” meaning “old age”. It is a reference to a disorder in which the signs of old age are present before they should be -- when the person is a young child. In essence, in progeria, an elderly person is present in a child’s body, both physically and genetically. Progeria is extremely rare, only occurring in one out of every 8 million births. There are only 80 known children with progeria in the entire world.

Diagnosis of progeria is based on clinical examination of the child and can be confirmed with a genetic test. Signs of progeria include hair loss, wrinkles, missing teeth, delayed growth, lack of weight gain, dry scaly skin, vision loss, fragile bodies, pinched nose, and a small jaw. As the child ages, signs of progeria become more advanced. Interestingly, cognitive impairment is usually intact despite the increased risk of cognitive impairment in the normal aging population. Motor functioning is usually also preserved. Most children with the condition only live until 12 years of age. The main cause of death is atherosclerosis (hardening of the arteries), which can lead to a heart attack or stroke. Ninety percent of children with progeria die from one of these two causes.

The cause of progeria itself is caused by a mutation (change) in the LMNA gene. This gene provides instructions for the Lamin A protein, which holds the skeleton of the cell’s nucleus (headquarters) together. The changed gene alters instructions to the Lamin a protein, causing instability of the cell’s nucleus, which leads to premature aging. Unfortunately, there is no treatment of cure for progeria although attempts are made to reduce cardiovascular problems.

Ayumu the Chimpanzee, Incredible Memory, and Skepticism

One of my Facebook friends recently posted an article about Ayumu the chimpanzee, who is world renowned for his memory feats in the laboratory setting. If you watch the video of what Ayumu can do in the laboratory, it seems absolutely incredible and is no doubt impressive. You can see a good demonstration that is well worth watching below of what Ayumu can do.



As impressive as this video is, I could have sworn I remembered some controversy over this after seeing this several years ago. So I went to PubMed, which is the best online repository for peer-reviewed research articles and I found the following.

Silberberg A, Kearns D. Anim Cogn. 2009 Mar;12(2):405-7. Epub 2008 Dec 30.  

Memory for the order of briefly presented numerals in humans as a function of practice.

Inoue and Matsuzawa (Curr Biol 17: R1004-R1005, 2007) showed that with an accuracy of approximately 79%, the juvenile chimpanzee Ayumu, could recall the position and order of a random subset of five Arabic numerals between one and nine when those numerals were presented for only 210 ms on a computer touch screen before being masked with white squares. None of nine humans working on the same task approached this level of accuracy. Inoue and Matsuzawa (2007) claimed this performance difference was evidence of a memorial capacity in young chimpanzees that was superior to that seen in adult humans. While the between-species performance difference they report is apparent in their data, so too is a large difference in practice on their task: Ayumu had many sessions of practice on their task before terminal performances were measured; their human subjects had none. The present report shows that when two humans are given practice in the Inoue and Matsuzawa (2007) memory task, their accuracy levels match those of Ayumu.

Moral of the story: When sometimes seems very out of the ordinary, approach with a degree of skepticism. Nevertheless, I'm still very impressed with Ayumu!

Neurocysticercosis: Tapeworm Infestation of the Brain

One of the most frightening medical conditions in the neurosciences is neurocysticercosis. In this condition, the brain becomes infested with the larvae of the pork tapeworm, known as Taenia solium. It is called a pork tapeworm because it infects pigs as well as humans. It has several hundred segments that are capable of releasing thousands of eggs when it reaches maturity. To the top left is a picture of the pork tapeworm under the microscope.

Pigs eat the eggs of these tapeworms when they eat food contaminated with feces. The eggs hatch in the pig intestines and develop into cysticerci in the muscles. Cysticerci are the larval form of the tapeworm.When people eat undercooked meat that is contaminated by cystocerci, they develop into adult tapeworms in the small intestines of humans and release thousands of eggs. Cysterici can also travel to the brain and form cysts when this happens it is known as neurocysticercosis. To appreciate what this looks like, first, here is a picture of a normal slice through the middle of the brain:

Here is a picture of a similar area of the brain contaminated with the pork tapeworm showing cysts:

On the left is a normal picture of the brain on a brain MRI (magnetic resonance imaging) scan. On the right is a brain MRI showing neurocysticercosis:


The appearance of neurocysticercosis in the brain depends on which of the four stages the person is in. In stage 1 (vesicular stage), the worm is alive and there is not a significant response from the immune system so there is minimal edema (fluid build up). In stage 2 (colloidal stage), the worm dies, causing the cyst to weaken, the worm to leak out, and the immune system responds, causing significant inflammation. In stage 3 (granular nodular stage), the immune response causes the cysts to harden and collapse. In stage 4 (calcified stage), the cysts calcify and the immune response/inflammation decreases. At any point, abnormal areas in different parts of the brain can be all in one stage or at either of the 4 stages.

Neurocysticercosis is the most common parasite disease of the nervous system and the main cause of acquired epilepsy (repeated seizures) for people in developing countries. This is because of poor hygiene in many developing countries, especially where pigs and humans live close together. The condition rarely happens in Muslim countries, where eating pork is forbidden. In addition to seizures, other signs and symptoms include headaches, dizziness, stroke (rupture or blockage of a blood vessel in the brain), increased blood pressure in the brain, severe impairment of thinking skills, double vision, difficulty speaking, weakness and/or sensory loss on one side of the body, increased or decreased reflexes, difficulty walking, movement disorders, and increased fluid in the brain.

Neurocysticercosis is treated by administering medications to kill the tapeworms, although these medications are often not used in patients with severe edema because the medication causes additional inflammation. Corticosteroids are administered to reduce inflammation. If seizures occur, anticonvulsants will be used to treat them. In some cases, neurosurgery is performed to remove accessible cysts.

Related Story: Stupid Diets: Infesting Yourself with Tapeworms

Bizarre Images of Cutaneous Horns

If you thought that people could only have horns growing out of their body in science fiction movies, think again. Many people do not know that some people can literally grown horn-like projections out of their body. The reason many people are unaware of this is because the stigma associated with the condition leads people to try to conceal it from others with clothing, bandages, or becoming a recluse until they can be surgically removed. When horn-like structures grow out of people’s skin, they are referred to as cutaneous (skin) horns and sometimes referred to as Devil’s horns. Below is a picture of a 69-year old lady with a 17-cm cutaneous horn protruding from her forehead. This is why she is known as The Unicorn Lady.

RECOMMENDED BOOK: Skin Disease Diagnosis and Treatment

Cutaneous horns are a mysterious medical condition but they may be caused by radiation exposure since they occur more in sunlight exposed areas (face, hands). They could arise from burn scars and some have reported an association with a common disease known as human papillomavirus (HPV). Probably the largest cutaneous horn was the one that was on Madame Dimanche, a French woman from the 19th century whose forehead horn measured 9.8 inches (24.9 cm). It was successfully removed via surgery. A wax model of her head was taken before surgery and is pictured here:

Cutaneous horns are benign in 80% of cases but malignant (cancerous) in 20% of cases. Pain at the bottom of the horn usually indicates malignancy. Believe it or not, these horns can also be present on the penis and when this happens, it presents almost double the risk of cancer. Here is one example of a cutanoeus horn growing out of a 102-year-old woman’s head in China. As of last year, this horn measured 10-cm in length.

Cutaneous horns are made of keratin, which is the same substance that hair and fingernails are made of. While the horns can be removed with a sterile razor, the underlying condition still needs treatment.
The most severe case, however, is that of The Tree Man, whose real name is Dede Koswara and lives in Indonesia. His body has been taken over by warty growths and cutaneous horns because of a genetic defect that prevents his body from containing them:

As you can see, the horns also took over the feet and toes:

Related blog entry: Lionel the Lion Man: A Case of Hypertrichosis 

Superbowl Loss for Your Team? You May Be Dead in Two Weeks Research Suggests

If your team lost in the Superbowl last night, research suggests that you are at increased risk of dying in the next two weeks. One known risk of cardiac failure is acute stress, be it physical stress, emotional stress, or both. This is because puts part of the nervous system into overdrive and causes a release of chemicals known as catecholamines that prepare the body for the “fight or flight response.” The result can be increased heart rate, blood pressure, blood sugar (i.e., glucose), abnormal heart rhythms, too many platelets (leading to blood clots), and/or contractures of the heart’s ventricles (which pump blood to the body). Increased oxygen demand can occur and oxygen supply to the heart can be decreased. If a person has a buildup of plaque in the arteries (a condition known as atherosclerosis) increased blood pressure can shear off a piece of plaque and lead to a heart attack or ischemic stroke. In an ischemic stroke, there is a blockage of an artery, preventing enough blood from getting to the brain.   

Researchers have noted that there was an increase in total deaths and cardiac related deaths in Los Angeles when the L.A. Rams lost the Superbowl on 1/20/1980. Of note, that game was played locally in Pasadena, California. The game was high-intensity, involved 7 lead changes, and the game was decided in the last quarter (final score 31-19). The team was much loved by the fans and had been in the city since 1946. By contrast, the number of total deaths in Los Angeles decreased when the L.A. Raiders won the Superbowl on 1/22/1984. The L.A. Raiders had only been in the city since 1982 (having moved from Oakland) so there was less emotional attachment by the L.A. fans. The game was not played locally (it was played in Tampa, FL) and was also a blow-out, with the Raiders winning 38-9.

Researchers from Los Angeles studied the degree to which age (65 or older vs 65 or less), sex (men vs women), or race (white vs Hispanic) played a role in deaths shortly after the Superbowl. They examined death certificates from 1980 to 1988. They considered Superbowl days (days in which the effects of a the Superbowl may be felt) to be the date of the Superbowl and the next 14 days. The other days in January and February of 1980, 1981, 1982, and 1983 were considered non-Superbowl days. The same analyses were done for the 1984 Superbowl. Total and cardiac deaths from January 1 to January 14 were not analyzed due to a known increase in deaths around the holidays.

The researchers used statistical techniques to assess if there was a difference in total and cardiac related deaths on Superbowl days vs non-Superbowl days. They also used a statistical procedure known as regression analysis to determine which variables best predicted death rate: Superbowl days vs non-Superbowl days, race, sex, age, or combinations of race, sex, and age with Superbowl vs non-Superbowl days.

The results showed that after the Superbowl loss, daily death rates increased for both males and females. The circulatory death increase was 15% for men and 27% for women. People aged 65 or older had a larger increase in all causes of death during Superbowl days compared with those who were less than 65 years old. Whites and Hispanics had increased death rates on Superbowl loss days. There were statistical trends suggesting less death in older patients and females associated with a Superbowl win but the findings were not statisitically strong enough to state this association more firmly.

The researchers concluded that a Superbowl loss triggered increased deaths in both men and women and especially in older patients, whereas a Superbowl win reduced death more in those aged ≥65 years and in women.

However, Dr. Viktor Culic from Croatia was not so impressed with these conclusions based on a criticism with how the study was conducted. Specifically, he published a response saying that the 2-week post-Superbowl period was too long for one to reasonably be able to associate deaths during that period to the Superbowl. He stated that the true risk of death after an emotionally related stressor is one to two hours after the stressor. He stated that any extension of the period to two weeks would be purely based on hypothetical disease mechanisms. He stated that cold weather and air pollution could be associated with the increased deaths after the Superbowl, especially in the elderly. He stated that perhaps the weather was colder and the air more polluted in two weeks after the Superbowl loss than the comparison days. He also stated that there may have even been more deaths in the weeks that were excluded before the Superbowl because it may have been even colder then.

The authors of the original study replied that they picked a 14 day period after the Superbowl because they believed that the emotional effects may linger after the day of the game. They stated that most of the deaths occurred in the first week after the game. They disputed the usefulness of examining death rates in the weeks before the Superbowl. They stated that cold weather and air pollution could not explain their findings. They correctly point out that the two Superbowl games were played at nearly identical times of the year, yet there were different death rates. The temperatures were also mild in L.A. both times, with an average of 52.9 on the day of the 1980 Superbowl and 54.5 on the day of the 1984 Superbowl. Temperatures were also very close in January and February of 1980 and 1984. In addition, analysis of air pollution data did not show more air pollution in 1980 than 1984.

The reference for the original study is:

Kloner RA, McDonald SA, Leeka J, Poole WK. Clinical Cardiology. 2011 Feb;34(2):102-7. Role of age, sex, and race on cardiac and total mortality associated with Super Bowl wins and losses.

The reference for the response and author reply are:

Culić V. Clinical Cardiology. 2011 Jul;34(7):461-2; author reply 462. Response to 'Role of age, sex, and race on cardiac and total mortality associated with Super Bowl wins and losses'.

Women's Health and Politics: Planned Parenthood vs Susan G. Komen

Despite the adversarial political climate that divides so many Americans, there are some topics that most people can agree on regardless of politics. One of those is that early detection and screening for cervical cancer and breast cancer are important initiatives that should be supported because early detection leads to earlier treatment which, in turn, saves lives. While many women have such exams paid for by their health care insurance, those without insurance often rely on funding from non-profit organizations to fund these types of early clinical, screening, and diagnostic exams.

Problems emerge, however, when one of these health care organizations takes a position on a topic as controversial as abortion, either pro or con. For example, Planned Parenthood is a non-profit organization that relies heavily on donors to fund women’s healthcare services, which includes clinical breast exams and mammograms. However, the organization also conducts about 300,000 abortions a year and lobbies for pro-abortion legislation. In doing so, Planned Parenthood intertwines funding for activities that almost everyone would support (breast exams) with funding for an activity (abortions) that deeply divides Americans.

When this happens, such an organization can expect to be the target of people who have strong opposing views on abortion. This is exactly what has happened to Planned Parenthood, as they have been frequently audited and targeted for defunding by Congressional Republicans. Most recently, the largest breast cancer organization in the U.S. (Susan G. Komen for the Cure) decided to cut its funding to Planned Parenthood. Although the money donated from Susan G. Komen was for clinical breast exams and mammograms, Republicans criticized the group for supporting a group that supported abortions. Susan G. Komen claimed that the reason for their decision was because they developed a new rule prohibiting donations to organizations that are under congressional investigation. However, critics claim that this is a contrived excuse, especially since it only affected funding of Planned Parenthood.

Delving into the politics of this issue in more detail gives reason to suspect that this was a contrived excuse by Susan G. Komen when the real issue involved giving into political and financial pressures. Specifically, the founder of Susan G. Komen is Nancy Brinker, who has long-standing connections to the Republican party, served as an Ambassador for George W. Bush, donating money to the Republican party (including George W. Bush’s first presidential campaign), and partnered with the policy-making branch of the George W. Bush presidential library. In fact, the decision to cut off funding to Planned Parenthood was made soon after the latter partnership was established. To make the situation even more politically interesting, the leader of Planned Parenthood is Cecile Richards, who was the daughter of former Texas Democratic governor, Anne Richards. Richards is widely remembered for ridiculing George W. Bush when he ran against her for governor. Thus, it is not much a stretch to imagine that a condition for partnership with Susan. G. Komen (which is worth 3 million dollars and is funded by Merck, a known campaign donor to current Texas governor, Rick Perry) could have been dependent on defunding Planned Parenthood. Susan G. Komen has denied that their decision has anything to do with politics, which is hard to believe, and this brings me to my last point.

If Susan G. Komen truly wanted to defund Planned Parenthood because they did not want to support a group that also funded abortions, that is well within their right to do. Planned Parenthood has to understand that when they fund both non-controversial healthcare services and controversial services, that the non-controversial services will suffer funding cuts from organizations who are pressured to stop contributing to them. Separating these services into different groups would at least prevent this problem from occurring, regardless of one’s position on abortion. In cases where funding is cut off, it is misleading to paint the organization that cuts the funding as creating barriers to women’s health because the problem would not exist if Planned Parenthood did not simultaneously fund controversial and non-controversial health services. They are within their right to do so, but it will cause problems as a result.

At the same time, it is not a mystery that Planned Parenthood pays for abortions. Thus, if another organization is truly opposed to abortions, they should simply not make a contribution in the first place. Once an organization makes a contribution and then stops contributing after known pressure and associations with opponents of Planned Parenthood, the decision is going to appear politically and financially motivated even if by some chance it was not. Interestingly, due to political pressure (particularly on social media), Susan G. Komen announced a restoration of funds on 2/3/12. Komen had successfully been cast as an organization not committed to saving women's lives and did what they had to do to reverse what had become a public relations nightmare. This is an excellent case study on how politics on both sides of the aisle affects women's health care.

Birth Control Recall and the Impact of Litigation on Medication Costs

On 1/31/12, the world’s largest research-based drug company, Pfizer, announced that an automated packaging error led to a recall of the birth control medication, Lo/Ovral-28 and the generic counterpart, Norgestrel/Ethinyl Estradiol. The packaging issue had to do with the placebo pill being placed in the wrong order in the 28-day cycle and an inexact number of placebo (should be 7) or active forms (should be 21) of the medication. The placebo pill is one that does not contain the drug’s active ingredient, and thus, does not lead to birth control. The placebo pills are a different color than the active pills. This led a consumer to detect the error when she noticed a discolored pill in the middle of the package. Pfizer has advised that women who have taken these medications over the last several months to talk with their physician about beginning a non-hormonal barrier method (e.g., condoms) of birth control immediately. Switching pills would be another option of course, although Pfizer does not mention this for obvious reasons.

One million packs were recalled throughout the U.S. even though only 30 packages were affected and there are no known immediate health risks besides according to Pfizer. However, Pfizer does acknowledge that an unplanned pregnancy could result. An unplanned pregnancy does come with possible health risks, with the worst case scenario being death of the mother and/or child. Pfizer stated the following in a press release the next day:

“Because of our high quality standards, should we identify even one package that does not meet our high standards, we will voluntarily recall the entire lot.”

While this quote sounds good from a customer relations perspective, one is left to wonder if this recall still would have happened if it was not for the threat of litigation. Plaintiff attorneys did not waste any time trying to find women to sue Pfizer who may have suffered an unplanned pregnancy or health problems as a result of the unplanned pregnancy. Imagine, for example, the type of lawsuit that would emerge from a man alleging that he is widowed due to his wife dying in labor as a result of a pregnancy caused by a packaging error? Or the type of lawsuit that would emerge from a parent claiming that they want Pfizer to reimburse them for the entire cost of raising a child, including a college education?

Examining this in more specific financial detail, one online drugstore sells a pack of Lo/Ovral for 59.99. Other sites charge more and generics will cost less so for the sake of this example, take $60.00 as the average cost per package. This means Pfizer takes a roughly 60 million dollar loss as a result of this recall. A 60 million dollar loss for 30 packs? A 60 million dollar loss to maintain high quality business standards? Or a 60 million dollar loss to reduce the chance of one or more (e.g., class action) lawsuits for hundreds of millions of dollars that could literally end a company's existence. Lawsuits regarding unplanned pregnancies from faulty vasectomies, for example, have sought awards of over 600 million dollars. If you are the largest drug company in the world, would you rather take a 60 million dollar loss or increase the risk of a 600 million dollar loss? The answer is easy, especially for a drug marketed as being almost 100% effective in eliminating pregnancies.

Although Pfizer will take a temporary financial loss in this instance, the cost of the recall will likely be made up for by increasing the prices of other medications in the future. This is one reason why medications in the U.S. are generally more expensive than they are in other countries. One can have cheaper medications if they are willing to accept less research on their safety and efficacy and fewer attempts to quickly correct packaging errors when they arise.

The Top 5 January 2012 MedFriendly Blog Entries

January was a terrific month for the MedFriendly Blog. Articles from the blog continue to be featured on KevinMD and recently formed the basis of a news article on whether or not healthcare providers should hug patients. This month also featured the most popular MedFriendly Blog article to date, with well over 2000 page views. More people are retweeting blog posts on Twitter or posting them on Facebook. Please note that all MedFriendly Blog posts are always accessible to read by clicking in the Blog Archive to the right. Just click on 2011 and then the month and you will see the blog posts for that month listed.

Without further ado, the most popular MedFriendly Blog Posts in January 2012 were:

1.    New York Neuropsychologists Leave State Neuropsychological Association: This entry was so popular because it benefitted from mass distribution by members of my profession. Result: 2438 page views to date.

2.    Have You Seen the MedFriendly Message Board?: Reintroducing the MedFriendly Message Board (the largest medical message board in the world) brought in 180 page views.

3.    The Bizarre “Morgellon’s Disease,” Psychosis, and Exaggeration. This is one of the most interesting blog entries to date as it shows how science can be used to explore bizarre medical claims. Result: 114 page views.

4.    Why Sports Leagues Need to Pay Attention to Malingering: An interesting entry with several video clips documenting the problem of faked injuries in sports. Result: 112 Page views.

5.    What Is Trisomy 18: An Explanation of Rick Santorum’s Daughter’s Condition: Just posted a few days ago, this medical explanation entry already has 100 page views and counting.

Cyber Bullying to a Dying Child with Huntington's Disease: A New Low for Society

In the old days, bullying used to consist of name calling and/or physical aggression from someone in a position of power over another, typically from a roughly similarly aged peer group. The bullying could be mild such as occasional name calling and having one’s books knocked down when walking in the hallway.

This does not mean the effects of the bullying were mild but comparatively speaking, this is generally not regarded as significant as being thrown off a bicycle on the way home from school and being kicked and punched by a group of older children while others stand around, watch, and laugh.

As communications technology progressed, new forms of bullying emerged. One form was phone bullying in which an anonymous caller would call someone’s house and make mean and degrading comments to someone and/or that person’s family. This form of bullying increased the feeling of powerlessness because unlike more traditional forms of bullying, the victim did not know for sure who the offender was. The victim may have suspicions but often lacked definitive proof. Fortunately, phone bullying was vastly curtailed with the invention of caller ID.

While writing letters was largely replaced by phone conversations, phone conversations have largely been replaced by internet communications (such as Facebook posts, Twitter posts, YouTube postings) and text messages (which often contain links to internet posts). Along with this form of communication has come a new form of bullying known as cyber bullying. Cyberbullying is the use of the Internet and similar technologies (e.g., cell phones) to hurt others in a deliberate, repetitive, and hostile manner. Common examples include spreading false rumors, ridiculing comments, editing photographs of someone in an embarrassing and humiliating manner and posting them online, making anonymous threats, and disclosing highly personal information (such as private medical information).

What makes cyber bullying so different from other forms of bullying is that it exposes the victim to potentially millions of people with the push of the button as opposed to it being a localized event within one class or school. In addition, whereas other forms of bullying can be seen as temporary events in time, cyber bullying is often permanent in the sense that once something has been posted to the internet there is usually always a trace of it that can be found (e.g., through archival caches) if it has been posted online long enough. Even if there is a way to permanently remove the offensive online content, the victim may initially perceive otherwise.

While cyberbullying is most common from one child to another, it sometimes occurs between adults, and can have deadly consequences. One example was the death of Tyler Clementi, 18, a freshman at Rutgers University who committed suicide by jumping off a bridge in 2010, days after his romantic encounter with another man was recorded secretly by his roommate and streamed over the internet.

While all of these examples of cyber bullying are wrong, harmful, and should be repudiated, I find that the most disgraceful form of cyberbullying comes in when it is directed from an adult to a child. This is because the adults should know better and because the adult is already in a much higher position of power with no need to resort to bullying. One famous case was that of Megan Meir, a teenager with major depressive disorder and attention deficit hyperactivity disorder who had poor self-esteem due to being overweight. The mother of a friend allegedly created a MySpace account under a fake name and sent her demeaning messages such as those that said everyone hated her and that the world would be a better place without her. Twenty minutes after receiving one these messages over an internet instant message service, she killed herself via hanging in a closet.

Of all of the cases of cyber bullying though, one of the most despicable is what happened to a cute, 9-year-old girl named Laura Edward. Laura, along with her mother, suffered from a deadly condition known as Huntington’s disease. Huntington's disease is a genetic motor disorder that results in chorea and deterioration of mental functioning. Chorea is involuntary, irregular, dance-like movements of the arms, legs, and face. The condition normally affects young adults but in 6% of cases, people under age 21 can be affected.

One of Laura’s neighbors (Jennifer Petkov) got into a dispute with Laura’s grandmother over a birthday invitation and tensions escalated from there. To express her anger and hurt the family’s feelings, the neighbor posted pictures on the internet of Laura and her (now) deceased mother in a skull and crossbones being embraced by the grim reaper. The pictures and original interview with Jennifer Petkov where she brazenly admits doing this with no remorse ignited can be seen here in the embedded video. In addition to the cyber-bullying, the neighbor would reportedly drive a truck with a coffin in it back and forth in front of the house to taunt the girl and her mother, opening the casket and gunning the engine.

No matter what kind of dispute two adults have, a child (let alone one who is dying and/or medically ill) should never be used as a pawn as part of that dispute. Adults need to act like adults and resolve problems between themselves without involving children in such a manner. Unfortunately, with society being so more and more focused on impersonal forms of communication, some people may lack the ability to resolve disputes through person to person interactions. But more impersonal communication is not the only factor leading to such incidents. At the end of the day, people need to follow common sense, a sense of moral decency, and the Golden Rule. Unfortunately, many people never develop these as guiding principles due to a faulty upbringing combined with immautrity.

If you are interested in fighting cyberbullying, please stop by the website STOP Cyberbullying to learn more. For those wishing to donate money to find a cure for Huntington’s disease, you may do so at the Huntington’s Disease Society of America.

Suggested reading: Cyberbullying: Bullying in the Digital Age

Related blog entry: Adult Psychiatric Effects of Childhood Bullying

What is Trisomy 18? An explanation of Rick Santorum's Daughter's Condition

For those who follow politics, you may have heard Republican presidential hopeful talk about his daughter, Isabllea (Bella), and how he never expected her to live to her first birthday but that she is now three years old. On Sunday, it was announced that Santorum had to cancel some planned appearances because his daughter was hospitalized at the Children’s Hospital in Philadelphia for double pneumonia (pneumonia in both lungs).

What is not often mentioned on television is what condition his daughter is actually suffering from and why it is so serious.

The name of the condition that Bella suffers from is a genetic disorder called trisomy 18 (also known as Edward’s syndrome). To understand trisomy 18, it is helpful to understand the importance of the word “trisomy.” Trisomy is when there is an extra set of chromosomes so that there are three chromosomes of a certain number instead of the usual two. This is where the word “trisomy” comes from since “tri” mean “three.” Chromsomes are structures that contain genes. Genes are units of material contained in a person's cells that contain coded instructions for how certain bodily characteristics will develop. Each person normally has 23 pairs of chromosomes, meaning that there are 46 chromosomes in total. A person with trisomy has 47 chromosomes, since there is one extra chromosome. One of each pair of chromosomes is inherited from the mother and one of each pair is inherited from the father.

Conditions in which there is an extra chromosome are medically defined based on where the extra chromosome is. For example, the most common trisomy is trisomy 21 (also known as Down’s syndrome) because there is an extra 21st chromosome. In trisomy 18 (Edwards syndrome), the 2nd most common trisomy, there is the presence of all or part of an extra 18th chromosome. The condition was named after John H. Edwards (not the former Democratic presidential candidate) who first described the condition in 1960.

Like Bella, about 80% of children affected by trisomy 18 are females. The older the mother at the time of conception, the greater the risk of trisomy 18. Santorum’s wife was 48 when she gave birth to Bella, well past the recommended age for child conception. About 1 in 6,000 live births have a diagnosis of trisomy 18. The average age of mother’s who give birth to children with trisomy 18 is 32.5.

The reason why trisomy 18 is so serious and often deadly is because it causes damage to the heart, kidneys, intestines (which can protrude outside the body), and/or other internal organs. Other problems can include but are not limited to overlapping fingers, restricted growth, an abnormally small head (microcephaly), webbing of the 2nd and 3rd toes, an upturned nose, narrow eyelid folds, underdeveloped thumbs and nails, clenched hands, low-set and malformed ears, mental retardation, widely spaced eyes, droopy eyelids, difficulties breathing, eating, and drinking. In males, there can be undescended testicles.

Most fetuses with this condition die before birth.  Common causes of death are heart damage and respiratory problems. Half of children born with this condition do not live past the first week. About 8% live longer than one year. Only 1% will live to age 10, although these are the less severe cases. Fortunately, after being in and out of the hospital for most of the first year of her life, Bella has not been hospitalized since this most recent event and is reportedly improving.

For those wishing to make a donation to the Trisomy 18 Foundation, you can do so at this link.

Suggested reading: I Am Not a Syndrome - My Name is Simon

The Bizarre "Morgellons Disease," Psychosis, and Exaggeration

If you are like most people, you have probably never heard of “Morgellon’s disease” or “Morgellons.” The first reason you have likely never heard if it is because it is so bizarre and uncommon. Most of what is known about it is based on rare case reports or anecdotal stories. The second reason is because it is not recognized in the medical community as a legitimate medical disease. It is a layperson’s term coined by a child’s mother (see end of entry).

People who claim to have this once mysterious condition report that all sorts of substances are excreted from their skin such as colored fibers, specks, dots, fuzzballs, worms, eggs, grainy substances, and other assorted solid materials. They report that they develop sores that are slow to heal and feel like bugs are crawling under their skin or have sensations of being bitten, stung, or experience pins and needles.

In addition to the dermatological (skin) symptoms reported, there are other non-specific symptoms reported (meaning they can have many possible causes) such as fatigue, concentration problems, memory difficulties, and depressed mood. Some of these patients have documented psychiatric disorders, some have genuine neurological conditions such as multiple sclerosis, and others have more controversial diagnoses such as fibromyalgia. Some of these patients claim to be disabled by their condition. No known medical cause has ever been discovered.

Most dermatologists consider the condition to be a psychotic disorder, which means that the person is detached from reality. Specifically, it is widely considered to be a form of delusional parasitosis, in which a person falsely believes they are infested with parasites.

Perplexed, the Centers for Disease Control and Prevention (CDC) ordered a study based on a request from Democrat Senator Dianne Feinstein due to an increasing number of people reportedly having this condition in her state of California.

A set of researchers conducted a search for patients in a managed care system with 3.3 million enrollees. 115 patients were found. The average age was 52 (range = 17-93), 77% were female, and 77% were Caucasian. 70% reported chronic fatigue. 54% reported poor health. 50% had drugs detected in hair samples. 78% reported solvent exposure. 24% had clinically significant histories of past or present drug or alcohol use.

But the most interesting part of the study was an analysis of skin samples. The most common finding was increased skin elasticity due to sunburn. Abnormal areas on the skin were most consistent with insect bites and scratched skin. There were no parasites or bacteria found. If there was something on the skin, it was usually was cotton from clothes.

When psychologicaly tested, 59% were reported as having cognitive deficits on a full battery of neuropsyhological tests in at least one area. Attention and memory were the most common areas assessed. Unfortunately, no tests were reported on that were used to confirm the reliability and validity of the cognitive test results and so one is left to wonder to what degree these poor test results are the result of poor effort to do well. This is important to consider because it is unknown how many of these patients were seeking compensation for these symptoms (e.g., litigation, disability application), which would increase the possibility of exaggeration.

Along these same lines, while a personality test known as the Personality Assessment Inventory (PAI) was administered, the authors only reported the results of the clinical scales (showing a high focus on physical symptoms). The results of scales on the test designed to measure the reliability and validity of the test results were not reported. Thus, it is unknown the degree to which some symptoms are over-reported, accurately reported, or underreported. Some of the test performance was almost certainly exaggerated, especially when one considers that of those patients with clinically significant somatic complaints on the PAI, 50% had elevated personality test scores that were at the 99.99%ile, meaning that such scores are essentially never seen in the normal population. In fact, these scores represent extreme symptom endorsement even for patient populations.  Researchers, as well as clinicians, should almost always include methods to assess whether the test performance and symptom presentation is reliable and valid.

Overall, Morgellons shares a number of features with delusional infestation beliefs and based on my read of the study, there is very likely to be an exaggerated component to the condition (at least in some people). It is interesting to note that over 75% of patient’s symptoms occurred after 2002, which was around the time that Internet postings about the topic began. This indicates that there is a suggestible or copy-cat component to Morgellons symptoms in some individuals, although some cases may truly represent psychosis (detachment from reality). The condition can also be considered a form of somatoform disorder, in which psychological distress is converted into physical symptoms that cannot be explained by a medical cause.

As to the origin of the term, it was coined in 2002 by Mary Leitao, who stated she had noticed "balls of fiber" coming out of her 2-year-old's skin prior to sores developing. She found the word "Morgellons" in a 17th century book describing an condition in which black hairs were said to appear on the backs of children in France. However, there is no evidence that the two conditions are related.

Source: Click here to read the research study.

Why Was Demi Moore Hospitalized?

Famous actress, Demi Moore, was recently hospitalized and the media has been busy trying to figure out why. It has been reported that there are three main problems: 1) substance abuse, 2) anorexia, and 3) collapsing due to a seizure.

Anorexia is excessive weight loss associated with an obsessive fear of weight gain. Pictures such as this one lend credence to the anorexia claim because she appears extremely thin.

A seizure is an overexcitable state of nerve cells in the brain. Seizures sometimes manifest as sudden, violent, involuntary contractions of a group of muscles but can also manifest as brief periods of loss of awareness and blinking. Seizures have many possible causes such as a very high fever, bleeding in the brain, drug overdose, and withdrawal from drugs, and anorexia. 

Due to alleged infidelity, Moore released a statement on 11/7/11 that she intended to divorce her much younger husband, Ashton Kutcher. Being a spouse who is the victim of infidelity, especially when placed in the public spotlight, is a very stressful experience. The same is true for divorce. Combine this with the wild Hollywood lifestyle and all of the factors are present for someone to turn to substance abuse as a maladaptive way to ease emotional pain. Anorexia involves the control of food and provides the individual with a sense of control when coping with uncontrollable events (e.g., infidelity). This is another maladaptive coping mechanism, however. Eventually, the body can no longer take the strain of such an unhealthy lifestyle (such as reported exhaustion), brain cells become desynchronized and over-excitable, and a seizure can result. Fortunately, once the underlying cause is treated in cases of substance abuse and anorexia, the person would be expected to become seizure free. She is reportedly being treated for anorexia. Treatment for anorexia involves psychological counseling, medications to reduce obsessions and increase weight, and dietary changes to increase weight gain. Substance abuse treatment primarily relies upon psychological counseling and she is reportedly receiving such treatment. 

Source: Radaronline.com article