It Takes Two (or More) to Tango with Multiple Myeloma

It Takes Two (or More) to Tango with Myeloma

Tim Gavallas, a police officer in Watertown, Connecticut, used to lead a pretty active lifestyle; he enjoyed lifting weights and running obstacle races, often finishing in the top of the pack. But several years ago, he slowly realized something wasn’t quite right. He started losing weight, and his back began to hurt.

Those symptoms led to a diagnosis of multiple myeloma in 2013, when Gavallas was just 38 years old. He was immediately prescribed a combination of therapies shown to work together to treat myeloma. As a result, things began improving, and within six months he was back on duty full time. He is currently on a different combination but still doing well.

“I’m two and a half years into it now, and I feel pretty good,” Gavallas said. “I can’t lift heavy weights like I used to, but I’m still active and can play with my two young boys.”

Tim Gavallas was prescribed a combination therapy for multiple myeloma following his diagnosis in 2013.

Gavallas is just one of the many patients who are benefiting from a shift in how physicians treat multiple myeloma, as they are increasingly using combinations meant to attack multiple myeloma on multiple fronts.

As the interest in a variety of combination therapies continues to grow, data presented at this year’s Annual Meeting of the American Society of Hematology (ASH) should provide better insight into which groups of medicines hold the most promise.

We’re seeing not only more studies on combination therapies, but also updated follow-up data on the studies we saw last year at ASH.

“We’re seeing not only more studies on combination therapies, but also updated follow-up data on the studies we saw last year at ASH,” Mohamad Hussein, vice president, Global Medical Affairs, Multiple Myeloma at Celgene, said. “Doctors now have more information to help them make the best treatment decisions for their patients.”

Although the potential was initially recognized about a decade ago, only now are researchers seeing the data from studies of combination therapies.

That really speaks to how dramatically new therapies have improved survival over the last decade; with 47 percent of patients now living longer than 5 years after diagnosis, it takes studies at least that long to show that combinations can further improve survival.

The success of combinations doesn’t seem surprising when we consider the complexity of myeloma. Evidence is mounting that multiple myeloma is actually the result of several factors acting together and spurred on by a variety of genetic mutations.

So while one treatment may kill a majority of myeloma cells, other cancerous cells may not be affected at all; those remaining myeloma cells may be the basis of relapse. But combining therapies that target different cell subpopulations could decimate myeloma cell populations that one therapy could never do on its own. Now researchers just need to identify the best combinations.

“Immunomodulators are attractive partners in myeloma combination treatments,” Hussein said. “They enhance the activities of other therapies and their control of the multiple myeloma pathophysiology.”

Although combination therapies are helping transform myeloma into a long-term, manageable illness, we still need to better understand which patients would respond best to which specific combinations.

And since 15 to 20 percent of myeloma patients do not respond well to any of the current treatments—even combinations—we need more options.

New therapeutic classes will lead to new, possibly more effective combinations, which can provide hope for myeloma patients. Gavallas remembers how powerful a bit of hope can be. “When I was first diagnosed, I was scared,” he said. “But then I met someone in my support group who had been living with myeloma for over 15 years because of these new therapies and combinations. At that moment, I felt a huge sense of relief.”



EC approves Alprolix for the treatment of haemophilia

Swedish Orphan Biovitrum AB (Sobi) and Biogen have announced that the European Commission (EC) has approved Alprolix (rFIXFc) for the treatment of haemophilia B and maintained its orphan designation.

haemophilia B

Alprolix is the only recombinant factor IX Fc Fusion protein therapy for haemophilia B to offer people in the EU prolonged protection against bleeding episodes with fewer prophylactic injections.

Alprolix is indicated for both on-demand and prophylaxis treatment of people with haemophilia B in all ages. Prophylactically, it can be administered with an initial dose every seven days or every 10 days with the ability to adjust the dosing interval based on individual response.

Commenting on the approval, Krassimir Mitchev, M.D., Ph.D., vice president and medical therapeutic area head of Haemophilia at Sobi, said: “With the approval of Alprolix, people with haemophilia B in Europe now have the potential to experience prolonged protection from bleeds with fewer injections. We are working to make Alprolix available in Europe as quickly as possible. Along with Biogen, we’re excited to continue offering innovative therapies to people with haemophilia around the world.”

Approval based on results from two Phase III trials

The EC’s approval of Alprolix was based on results from two Phase III clinical trials that demonstrated the efficacy, safety and pharmacokinetics of Alprolix for haemophilia B: the pivotal B-LONG study for previously treated adults and adolescents, and the Kids B-LONG study for previously treated children under age 12. The adverse drug reactions with an incidence of ≥ 0.5 percent for Alprolix were nasopharyngitis (common cold), influenza, arthralgia (joint pain), upper respiratory tract infection, headache, and hypertension. The majority of these events were judged as not related or likely not related to study drug.

Sobi and Biogen collaborate on the development and commercialisation of Alprolix for haemophilia B. Sobi has final development and commercialisation rights in the Sobi territory (essentially Europe, North Africa, Russia and most Middle Eastern markets). Biogen leads development and manufacturing for Alprolix and has commercialisation rights in North America and all other regions in the world excluding the Sobi territory.



Turmeric Curcumin and Its Affect on Multiple Myeloma

Multiple myeloma is one of our most dreaded cancers. It’s a cancer of our antibody producing plasma cells and has been considered one of the most intractable blood diseases for many years. The precursor disease is called monoclonal gammopathy of undetermined significance (MGUS).

When it was named, it’s significance was undetermined, but now we know that multiple myeloma is almost always preceded by MGUS. This makes MGUS one of the most common premalignant disorders, with a prevalence of about 3 percent in the older white general population and about 2 to 3 times that in Black populations.

MGUS itself is asymptomatic, you might not even know you have it until your doctor finds it incidentally doing routine bloodwork. But should it progress to multiple myeloma, you only have about four years to live.

We need to find ways to treat MGUS before it turns into cancer. Unfortunately, no such treatment exists. Rather, patients are just placed in a kind of holding pattern with frequent check-ups. If all we’re going to do is watch and wait, researchers figured they might as well try some dietary changes.

One such dietary change is adding curcumin, the yellow pigment in the spice turmeric. Why curcumin? It’s relatively safe, considering that it has been consumed as a dietary spice for centuries. And it kills multiple myeloma cells.

If you click on the video below, you can see the unimpeded growth of four different cell lines of multiple myeloma. We start out with about 5,000 cancer cells at the beginning of the week, which then doubles, triples and quadruples in a matter of days. If we add a little bit of curcumin, growth is stunted. If we add a lot of curcumin, growth is stopped. But this is in a petri dish. Still, it is exciting enough to justify trying curcumin in a clinical trial.

We can measure the progression of the disease by the rise in blood levels of paraprotein, which is what’s made by MGUS and myeloma cells. About 1 in 3 of the patients responded to the curcumin with dropping paraprotein levels, whereas there were no responses in the placebo group. These positive findings prompted researchers to commence a double-blind, randomized, controlled trial. The same kind of positive biomarker response was seen in both MGUS patients as well as those with so-called “smoldering” multiple myeloma, an early stage of the cancer. These findings suggest that curcumin might have the potential to slow the disease process in patients, delaying or preventing the progression of MGUS to multiple myeloma. However, we won’t know for sure until longer larger studies are done.

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The best way to deal with multiple myeloma is to not get it in the first place. In my 2010 video Meat & Multiple Myeloma, I profiled a study suggesting that vegetarians have just a quarter the risk of multiple myeloma compared to meat-eaters. Even just working with chicken meat may double one’s risk of multiple myeloma, the thinking being that cancers like leukemias, lymphomas and myelomas may be induced by so-called zoonotic (animal-to-human) cancer-causing viruses found in both cattle and chickens. Beef, however, was not associated with multiple myeloma

There are, however, some vegetarian foods we may want to avoid. Harvard researchers reported a controversial link between diet soda and multiple myeloma, implicating aspartame. Studies suggest french fries and potato chips should not be the way we get our vegetables, nor should we probably pickle them. While the intake of shallots, garlic, soy foods and green tea was significantly associated with a reduced risk of multiple myeloma, intake of pickled vegetables three times a week or more was associated with increased risk.



Vestibular system and sensory processing disorder

So where is this vestibular system? And what does it do? Why is it so important in the Sensory Integration approach?

Vestibular system is present in the inner ear and plays a very important role in detecting movement of head in relation to the rest of the body. It works very much in unison with the visual and the auditory system.

So, what does that mean?  In simple terms-you may close my eyes and make me sit on a swing or in the car or in the  roller coaster ride or a revolving chair or think of anything that moves, this system will tell me where I am and in which direction I am moving and the speed at which I am moving. All this complex information with just the vestibular system. Amazing !!

Vestibular system and sensory processing disorder

So from the example above, it is very clear that the vestibular system will sense movements

  1. In a vertical plane like jumping or bouncing on a ball.
  2. In an angular plane-like sitting on a swing
  3. In an orbital plane- sitting on the merry go round which goes round like earth around the sun.
  4. In the horizontal plane- sitting in a car or riding a bicycle.
  5. Rotation –moving around in rotations as we used to do when we were kids –go round and round and round till the world goes round and fall down and still see the world moving.

Also, we are very clear with our body and also very accurate about which direction feels comfortable and what speed is comfortable. When my son plays down on the swings and I swing him fast, he tells me –“So do you want me to fall off the swing?” or when I go slow , he would say “Am I a baby?” So you can see how well the vestibular system checks speed and also knows what speed is comfortable and which is not.

Another amazing thing that it does is tells me when it is enough – so I went to my sisters house and she had a swing in the living room. I kept swinging and chatting for more than an hour and then I can sense and alarm inside telling me to get off the swing and that it was enough for me. This is the body’s way to protect the system.

Vestibular system has very strong connections with

  1. Eyes-have you noticed that the world moves round and round after we go round in circles-so it is not actually the world moving but the vestibular system moving the eyes-telling us “Ok, you have stimulated me enough!! Just stop now”. Technically, it is called as Nystagmus.
  2. Brain-we feel giddy after we go round in circles-the vestibular system tells the brain- “come on dear! It’s enough for me for now”. This is its way to stop excessive input and to prevent what is technically called as “Vestibular Overload”
  3. Autonomic nervous system- How many of you have felt nausea after going round in circles or feel some “weird” feeling in the stomach? This is one more connection that it has to stop excessive input.
  4. Muscles of the back- Have you noticed that we sit on a swing- we automatically get erect. This is one more connection by which this system maintains the tone in the postural muscles.
  5. Strong connections with the cerebellum-This is how the vestibular system helps us to balance. So, when we are giddy after a lot of spinning, we lose our balance.
  6. Proprioceptors- The vestibular system has strong connections with the proprioceptors and they work like hand in a glove.
  7. Reticular activating system- This is like a switch which either makes us alert or dulls us down.

So why do we need to know so much about this VESTIBULAR SYSTEM??? Until now we spoke of what the vestibular system does and now what if it is not doing what is meant to do????? CHAOS!!!!!

One important thing about this system is that the imbalance of the vestibular system effects is felt in other systems.

  • Visual spatial map-which in simple terms means an understanding of the world and the space around us- is distorted. They will have difficulty learning movements or actions that require timing and sequencing.
  • The child will also have a difficulty in moving in dark places because he relies on vision for the map. There will be an underlying anxiety and depression.
  • A person with sensory processing issues will have difficulties with visual perception- words are all scrambled-spellings do not make sense. Sequence of spellings is difficult to remember and retrieve giving an appearance of learning disability
  • Child may go round in circles and will not get a signal when to stop so the protective mechanism to protect the brain is not working which will lead to overload symptoms-headaches, nausea, vomiting, changes in heart rate and respiration, yawning and changes in skin color.
  • Feeling of fatigue and very low stamina or not sensing that the body is tired and needs rest so they seem to be filled with lot of energy.
  • Some kids may completely avoid movement to some others who would always seek movement. They may rock themselves.
  • Movements of the kids would be very clumsy and uncoordinated.

But, we can work and improve the functioning of the vestibular system and help these individuals.

Isn’t it really amazing to understand how big a role this little vestibular system plays in our life!!!




Implantable cardioverter-defibrillators can reduce sudden death in young patients with hypertrophic cardiomyopathy

A multicenter registry has demonstrated that the use of implantable cardioverter-defibrillators (ICDs) to combat sudden cardiac death in high-risk pediatric patients suffering from hypertrophic cardiomyopathy (HCM). The study is being presented Nov. 5 at the 2012 Scientific Sessions of the American Heart Association (AHA) in Los Angeles.

While the study found that the rate of possible device complications adds a level of complexity to this age group, it also demonstrated that life-saving ICD interventions were common in younger patients when terminating irregular heart rhythms, called ventricular tachyarrhythmias or fibrillation.

“While HCM is the most common cause of sudden death in the young,existing research has shown that the use of ICDs in adult patients with HCM have been very effective,” said the study’s lead author Barry J. Maron, MD, director of the Hypertrophic Cardiomyopathy Center at the Minneapolis Heart Institute Foundation in Minneapolis. “This registry is continuing to reveal important implications for younger patients suffering from this disease .”

For the study, the researchers evaluated an international registry of ICDs, implanted from 1987 to 2011, and found 224 patients with HCM judged at high risk for sudden death who received ICDs. They found that 188 patients received ICDs for primary prevention and 36 for secondary prevention after undergoing evaluation at 22 referral and non-referral institutions in U.S., Europe and Australia.

ICDs terminated ventricular tachycardia/fibrillation in 19 percent of patients over 4.3 years, according to the study authors. Also, primary prevention discharge rate terminating ventricular tachycardia/fibrillation was the same in patients implanted for one, two, three or more risk factors.

Extreme LV hypertrophywas most frequently associated with appropriate interventions in patients experiencing primary prevention interventions (65 percent). Also, ICD-related complications, particularly inappropriate shocks and lead malfunction, occurred in 41 percent of the patients at 17 years.

ICDs are a potential life-saving device in children with HCM, the most common cause of sudden death in the young.


The above post is reprinted from materials provided by Minneapolis Heart Institute Foundation


New research unlocks a mystery of albinism

Newly published research provides the first demonstration of how a genetic mutation associated with a common form of albinism leads to the lack of melanin pigments that characterizes the condition.

About 1 in 40,000 people worldwide have type 2 oculocutaneous albinism, which has symptoms of unsually light hair and skin coloration, vision problems, and reduced protection from sunlight-related skin or eye cancers. Scientists have known for about 20 years that the condition is linked to mutations in the gene that produces the OCA2 protein, but they hadn’t yet understood how the mutations lead to a melanin deficit.

In the new research a team led by Brown University biologists Nicholas Bellono and Elena Oancea shows that the protein is necessary for the proper functioning of an ion channel on the melanosome organelle, the little structure in a cell where melanin is made and stored. The ion channel is like a gate that lets electrically charged chloride molecules flow into and out of the melanosome. When the melanosome lacks OCA2 or contains OCA2 with an albinism-associated mutation, the researchers found, the chloride flow doesn’t occur and the melanosome fails to produce melanin, possibly because its acidity remains too high.

The discovery could inspire new ideas for treating albinism, said Elena Oancea, assistant professor of medical science and senior author of the paper published in the journal eLife.

“From a therapeutic point of view, we now have a channel that’s a possible drug target,” she said. Another potential treatment suggested by the research could be to alter melanosome acidity to make up for the lack of the protein.

A biology discovery

More generally, the study is also significant for being the first to show that ion channels are important for melanosomes to function properly. This wasn’t known before because melanosomes are generally too small for their electrical properties to be measured with the the technique of “patch clamping.” Such electrical readings are how biologists discover the comings and goings — the currents — of ions in cells, which is a fundamental process in cell physiology.

“I think it is a big step forward because not only did we make progress in understanding the function of one protein important in pigmentation, but we kind of opened up a new way to study how the melanosome operates,” said Bellono, a graduate student and the paper’s lead author. “There hasn’t been much research on ion channels in the melanosome.”

Because melanosomes are so small, Oancea and Bellono had to begin their study of the OCA2 protein and its mutant forms in organelle cousins of the melanosome, such as the endolysosome, because those can be made large enough for patch clamping. In experiments where they made endolysosomes express OCA2, for example, they measured currents related to the passing of chloride ions. That provided their first key evidence that the protein was associated with an ion channel.

They also used endolysosomes to find that that the OCA2 mutation V443I specifically affects the ion channel. That mutation decreased the chloride ion current by 85 percent compared to normal versions of the protein.

In another experiment Oancea and Bellono showed that expression of normal OCA2 in the endolysosomes, which are acidic organelles, reduced acidity to above 6 on the pH scale, which is required in a melanosome for the protein tyrosinase to trigger melanin production.

Into the melanosome

But to truly understand the role of OCA2 and the V443I mutation in albinism, the researchers needed to look directly at melanosomes. They were able to turn to helpful colleagues. Co-author Michael Marks at the University of Pennsylvania introduced them to a line of mutant mouse skin cells that had unusually large melanosomes. Anita Zimmerman, professor of medical science who works down the hall at Brown University, tipped them off that bullfrogs happen to have especially large melanosomes in their retinas.

Patch clamp experiments with those large melanosomes confirmed the role of the V443I mutation in the failure of chloride ion channels. First, they compared chloride currents in normal melanosomes and ones in which they used interference RNA (a method of blocking gene expression) targeted to prevent OCA2 production. They found that the melanosomes without OCA2 produced much less current and much less melanin. Then they added either normal OCA2 or OCA2 with the V443I mutant, and they found that only the normal OCA2 protein could restore current and melanin production.

They did another experiment to ensure that melanin itself wasn’t responsible for the chloride current. It wasn’t.

Many details of the OCA2 protein’s role in the melanosome’s ion channels are still not known, the authors said, but the research points to the key mechanism that breaks down when it fails.

“OCA2 activity modulates the melanin content of melanosomes, most likely by regulating organellar pH,” they wrote in eLife. “We propose that OCA2 contributes to a novel melanosome-specific anion current that modulates melanosomal pH for optimal tyrosinase activity required for melanogenesis.”


The above post is reprinted from materials provided by Brown University.


A real eye-opener: Narcolepsy bears classic autoimmune hallmarks

Narcoleptics suffer from bouts of sleepiness and sleep attacks, which impair their ability to function in daily life. But the precise cause of narcolepsy has long eluded scientists, and the cure for the devastating neurological disorder afflicting an estimated three million people worldwide — and one in 3,000 Americans — remains at bay.

A new study published in Pharmacological Research by the world’s leading autoimmune disease expert, Tel Aviv University’s Prof. Yehuda Shoenfeld, finds that narcolepsy bears the trademarks of a classic autoimmune disorder and should be treated accordingly. The research, led by Prof. Shoenfeld, the Laura Schwarz-Kipp Chair for Research of Autoimmune Diseases at TAU’s Sackler Faculty of Medicine and Head of Zabludowicz Center for Autoimmune Diseases at Chaim Sheba Medical Center, Tel Hashomer, and conducted by doctoral student María-Teresa Arango, points to a particular autoimmune process as the trigger for the specific loss of orexin neurons, which maintain the delicate equilibrium between sleep and wakefulness in the brain.

Not just the genes

“Narcolepsy is interesting, because although it has been considered to be strictly genetic, it is induced by environmental factors, such as a burst of laughter or stress,” said Prof. Shoenfeld. “Narcolepsy is devastating to those suffering from it and debilitating to children, in particular. There is no known therapy to treat it.”

Narcolepsy first strikes people aged 10 to 25, plaguing them for life. Narcoleptics may experience any or all of the following symptoms: falling asleep without warning, anywhere, anytime, making it difficult to concentrate and fully function; excessive daytime sleepiness; the sudden loss of muscle tone; slurred speech or weakness of most muscles for a few seconds or a few minutes; a temporary inability to move or speak while falling asleep or upon waking; and hallucinations.

Prof. Shoenfeld first became interested in the subject after an avalanche of narcolepsy diagnoses swept Finland in 2009 following the administering of the H1N1 flu vaccine. “Following the H1N1 vaccine, 16 times the average incidence of narcolepsy was reported,” said Prof. Shoenfeld.

Prof. Shoenfeld discovered that a group of researchers from the Sleep Control Project at the Tokyo Metropolitan Institute of Psychiatry in Japan had published a study on an autoantibody presence attacking tribbles, small granules in our brains containing regulatory orexin neurons, which maintain the balance between sleep and wakefulness in the brain.

Fingering the culprit

“In patients and animals that develop narcolepsy, we have seen an evident depletion of orexin in the brain, and therefore a lack of balance, and later attacks of narcolepsy,” said Prof. Shoenfeld. “Why is the orexin disappearing? We think the culprit is an autoimmune reaction — the binding of autoantibodies to the tribble granules to destroy them.”

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For the purpose of the new study, Prof. Shoenfeld and his team collaborated with the Japanese research group led by Dr. Makoto Honda to isolate the specific antibodies. These antibodies were then injected directly into laboratory mice. Ms. Arango monitored their behavior for several months, tracking their sleep patterns. “What we saw was an increased number of sleep attacks and irregular patterns of sleep in mice,” said Prof. Shoenfeld. “Mice fall asleep like dogs, circling around before going to sleep. Suddenly, in this experiment, the mice just dropped off to sleep and then, just two minutes later, woke up as though nothing had happened.

“Our hope is to change the perception and diagnosis of narcolepsy, to define it as the 81st known autoimmune disease, because a better understanding of the mechanism causing this disease, which debilitates and humiliates so many people, will lead to better treatment and, maybe one day, a cure,” Prof. Shoenfeld says. He is currently collaborating with Dr. Honda and his team to locate the area of the brain to which the targeting autoantibodies bind.


The above post is reprinted from materials provided by American Friends of Tel Aviv University


What is Dermatillomania, Excoriation Disorder?

Skin picking disorder, aka excoriation disorder, is a perplexing psychological condition. Merriam-Webster defines excoriation as the act of abrading or wearing off the skin. This can happen inadvertently in any number of ways, such as scratching an insect bite, or wearing ill-fitting shoes, or even popping a pimple. This seems innocuous in and of itself, but the darker side of skin picking, excoriation disorder, is getting increasing attention from medical experts these days.

Getting To The Point: What Is Excoriation Disorder?

Trusted info on skin picking disorder aka excoriation disorder. Discover how picking skin becomes a disorder and what causes people to skin pick.Excoriation disorder is the act of compulsively picking skin. People refer to this disorder by several other names, including dermatillomania, skin picking disorder or compulsive skin picking. This skin picking disorder has long been recognized by mental health professionals, but now excoriation disorder officially appears in theDiagnostic and Statistical Manual for Mental Disorders, Fifth Edition (DSM-V). The DSM-V lists the disorder in the new chapter entitled, Obsessive Compulsive and Related Disorders.

People with excoriation disorder have trouble controlling very strong urges to skin pick. Viewed by experts as a form of self-mutilation, this condition falls in the same family as compulsive nail biting and hair pulling. Although it’s a separate condition, it’s frequently seen in people who suffer from obsessive compulsive disorder.

Classified as a body focused repetitive behavior, it targets the face, but affects other areas of the body as well. The causes of this mental illness still require research and examination, but the results create definite concern in family members and mental health professionals who deal with skin picking patients.

Flaws in the skin, real or imagined, can trigger an impulse for the people who suffer with this disorder. The victim feels the impulse to remove the flaw and proceeds to pick at it. Sometimes prompted by a bump, an itch, or just an area where the skin looks or feels different, the repeated skin pick action can lead to bruising, bleeding, or infections. Subsequent scars and permanent disfigurement can result.

Picking Your Skin –A Cause For Concern?

Generally, picking your skin as a form of hygiene should not cause concern. People often find they need to squeeze a pimple, scrub off dead skin, or remove a hangnail. Even the unconscious act of scratching an irritation until it gets worse does not pose a serious problem. According to the International OCD Foundation, “Skin picking is not considered a disorder unless it is often and/or bad enough to cause significant distress or problems in other areas of life.” Sufferers of picking disorders focus on various parts of the body, including the face, scalp, cuticles, and back. All the extremities – hands, feet, arms and legs – can become the focus of this behavior as well.

Reasons vary, but stress most often triggers the episodes. Sufferers resort to skin picking to relieve stress, but then experience increased stress from guilt or shame. Others, perfectionists, seek to eliminate flaws in their skin. Paradoxically, picking your skin leads to more flaws. Both of these examples show different self-perpetuating cycles that help lead to excoriation disorder.

Permanent physical damage stands as the biggest concern for skin picking disorder sufferers. In addition, sufferers eventually find they have to take measures to hide the physical evidence of their condition. They become ashamed, less social. Relationships become strained, potentially creating problems with family, friends, and at work. Left untreated, excoriation disorder at its worst debilitates its victims. If you have concerns that your tendency to skin pick could require medical attention, do not hesitate to bring it up to your doctor


Stress and frustrated woman with hands in her long hair pulling.

Trichotilomania caused by faulty gene in some families

Scientists at Duke University Medical Center have identified gene mutations that cause trichotillomania, a psychiatric disorder that triggers people to compulsively pull their hair.

The disorder affects between 3 percent and 5 percent of the population and is considered an impulse control disorder. Patients with trichotillomania have noticeable hair loss or patches of baldness, but they often mask their habit. As a result, the disorder often goes undiagnosed and untreated, said researchers.

The relatively unknown disorder is often accompanied by other psychiatric conditions, such as anxiety, depression, obsessive compulsive disorder or Tourette syndrome, which are better known than the hair-pulling behavior.

The Duke team found two mutations in a gene called SLITKR1 that were implicated in trichotillomania patients. The mutations account for only a small percentage of trichotillomania cases, said the scientists.

However, their findings are significant because they validate a biological basis for mental illnesses. Such illnesses have long been blamed on a person’s upbringing or life experiences, said lead study investigator Stephan Züchner, M.D., assistant professor of psychiatry and researcher at the Duke Center for Human Genetics.

“Society still holds negative perceptions about psychiatric conditions such as trichotillomania. But, if we can show they have a genetic origin, we can improve diagnosis, develop new therapies and reduce the stereotypes associated with mental illness,” Züchner said.

Currently, there is no specific treatment for trichotillomania, although it is sometimes successfully managed with drugs used for depression and anxiety disorders.

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Results of this study will appear in the October 2006 issue of the journal Molecular Psychiatry. The research was self-funded through Duke University.

The Duke scientists studied 44 families with one or more members who had trichotillomania. The researchers studied SLITRK1 because it was linked last year to a related impulse-control disorder called Tourette syndrome, which causes repetitive behaviors such as blinking, throat-clearing or shouting obscenities. The parent of one Tourette patient carried the SLITRK1 mutation but displayed only symptoms of trichotillomania, not Tourette.

The Duke team further studied SLITRK1 and found two mutations in the SLITRK1 gene among some individuals with trichotillomania but not in their unaffected family members. Mutations are changes in the structure of a gene that alter how the gene behaves. The researchers estimate that the SLITRK1 mutations account for 5 percent of trichotillomania cases.

The SLITRK1 gene is involved in forming connections among neurons, or brain cells. The researchers hypothesize that the two mutations in SLITRK1 cause neurons to develop faulty connections and that this faulty “wiring” produces the urge to pull one’s hair.

While SLITRK1 is the first gene linked with trichotillomania, numerous other genes likely contribute to this disorder and other psychiatric conditions, said senior study investigator Allison Ashley-Koch, Ph.D., assistant professor of medical genetics and researcher in the Duke Center for Human Genetics.

“The SLITRK1 gene could be among many other genes that are likely interact with each other and environmental factors to trigger trichotillomania and other psychiatric conditions,” Ashley-Koch said. “Such discoveries could open the door for genetic testing, which is completely unheard of in the field of psychiatry.”

Compared with neurological diseases, the identification of genes which underlie psychiatric disorders have only just begun, she said. Few other examples exist where a specific gene is known to trigger a psychiatric condition, although it is generally accepted that genetic factors play an important role.

Psychiatric illnesses are widespread, affecting one in four Americans, according to the National Institutes of Mental Health. They are the leading cause of disability for Americans between the ages of 15 and 44. The most common disorders are depression and anxiety disorders, such as panic disorder, obsessive compulsive disorder and social phobia.

October 1-8, 2006, is National Trichotrillomania Awareness Week.

Other researchers involved in this study were Michael L. Cuccaro, Khanh Nhat Tran-Viet, Heidi Cope, Ranga R. Krishnan and Margaret A. Pericak-Vance of Duke and Harry H. Wright of the University of South Carolina.


The above post is reprinted from materials provided by Duke University Medical Center.


Dermatologist offers unique treatment for vitiligo skin discoloration

A UT Southwestern Medical Center dermatologist has improved a technique to transplant pigment cells that can repair the affected area of skin discoloration from vitiligo.

Dr. Amit Pandya, Professor of Dermatology at UT Southwestern, refined and enhanced this technique, which uses a less painful process rather than cutting into the skin to obtain the cells needed for the transplant. The cells are harvested from a painless blister raised on the skin, then transferred to the area of involvement to replace the missing pigment cells and restore the individual’s natural skin color. UT Southwestern is the only center in the United States to use this technique and one of only two to perform this type of cell transplant surgery, called non-cultured epidermal suspension (NCES) grafting, cellular grafting or melanocyte keratinocyte transplant procedure (MKTP).

“This provides new hope for patients with vitiligo,” said Dr. Pandya, who holds the Dr. J.B. Shelmire Professorship in Dermatology. “The unique aspect of our procedure, which no one else in the world is doing, is the formation of blisters as the source of donor cells combined with laser surgery to prepare the grafted areas. The older method of cutting the skin leaves a scar.”

Dr. Pandya, the only full-time pigmentary disorders specialist in Texas, has spent more than a decade treating vitiligo patients in the Pigmentation Disorders Clinic at UT Southwestern.

Vitiligo affects about 2 million people in the United States. Vitiligo occurs when the body is triggered to look at melanocytes, cells which give color to the skin, as foreign or abnormal. With vitiligo, the body’s own immune system starts attacking those cells, which is why it’s considered an autoimmune disease. Traditional treatments include phototherapy, requiring different types of machines to shine ultraviolet light on the whole body, localized areas, or the hands and feet. UT Southwestern also uses an excimer laser to treat smaller lesions.

For the transplant procedure, Dr. Pandya uses a syringe and a heat lamp to create a small blister graft on the thigh. Thousands of cells are removed from the blister roof and those cells are then applied to the affected area.

“It doesn’t even hurt. It feels like something is sucking on your skin. Then using heat lamps we’re able to form blisters about the size of a dime,” explained Dr. Pandya, who traveled to China, India, and Detroit to be trained in non-cultured epidermal suspension grafting. Many patients seeking these treatments previously had traveled across continents to Europe and Asia, where the treatments were initially developed.

Blistering leaves pigmentation, which slowly fades over time. Dr. Pandya can use a blister only 0.7 centimeters to cover an area 10 times as large. After the cells are extracted from the blister roof they are put into a solution in a syringe that is dripped on the affected area. Thousands of melanocytes are transplanted into the areas of vitiligo with each procedure. How many procedures are required depends on the size of the area affected.

Good candidates for the NCES procedure have stable vitiligo, in which not more than 10 percent worsening has been seen in the last year and patients with segmental vitiligo, a type that appears on only one side of the face or body.

“The best candidates have improved with previous treatments but have reached a standstill in which they are neither improving nor worsening,” said Dr. Pandya.

The donor blisters can come from the abdomen, thighs, or buttocks. Areas that respond well include the cheeks, forehead, neck, back, chest, abdomen, arms, and legs. The nose, skin around the mouth, lips, elbows, wrists, fingers, knees, ankles, and toes have a lower response. While most patients see at least 50 percent of their normal color returning to the treated area, success is not guaranteed and sometimes no pigmentation is seen after the procedure. The color of the new pigmentation may be lighter, darker, or blotchier than the normal surrounding skin, he said. Repigmentation can be sped up by using phototherapy once bandages have been removed in one week.

Dr. Pandya served as co-editor of the recently-published Dermatology Atlas for Skin of Color, which includes 50 chapters, more than 400 images, and concise discussions to address the presentation of common skin disorders in pigmented patients. Dr. Pandya also serves as medical director for the DFW Vitiligo Support Group, whose mission is to educate those with vitiligo about the diagnosis and treatment of vitiligo, to provide support for those affected by vitiligo, and to increase awareness of this disorder in the general public.

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In addition to ongoing research to find an eventual cure for vitiligo, Dr. Pandya is compiling one of only five vitiligo registries in the world that collects data on patients and the disease. The Dallas Vitiligo Registry (DVR) is a national registry for vitiligo patients. Its goal is to enroll a large number (hundreds) of patients in order to better understand the causes of vitiligo, how it evolves over time, and how to treat vitiligo optimally. Among the goals is to follow patients receiving various therapies to determine which work best and for which types of vitiligo. Patients also are evaluated for disease associations such as thyroid disease, which occur in greater frequency in patients with vitiligo. The creation of a unified database that measures and tracks these factors over a long period of time will provide greater insight into the disease process and advance the boundaries of current research in the field. Additionally, measuring response or progression of disease with different treatments over longer periods of time will help physicians to improve their treatment protocols for affected patients.


The above post is reprinted from materials provided by UT Southwestern Medical Center