Monthly Archives: January 2012

Recent Advances in Tourettes syndrome research – hope for 12 LeRoy girls?


A recent review in 2006 of current research knowledge on Tourette’s syndrome, in the Journal Trends in Neuroscience by Dr Albin and Dr Mink from University of Michigan and University of Rochester, respectively.

Salient features: It emphasizes that Tourettes is in more boys than girls (which makes it more significant and scientifically puzzling that it was 12 girls in LeRoy high school who have developed Tourettes like syndrome and around the same time after September 2011);
Basal ganglia models have made it easier to study this disease;
Genes have been found to be associated but none have been found in all Tourettes patients;
Treatment research is may hone in on D1 receptor antagonists.

Contact the authors and encourage them and let them know that you care about their work and their knowledge. They will truly appreciate it. You may support their work by fund raising for them. You may inspire them by inviting them to give talks on current status of world wide Tourettes research.

Rochester is not too far from LeRoy high school. It would be wise to have a scientific presentation in LeRoy by the author of this paper, who is based in Rochester.

Corresponding author is Jonathan Mink and his contact information:
Corresponding author: Mink, J.W. (jonathan_mink@urmc.rochester.edu).

Addresses of both authors, if you prefer to shower them with snail mail and one dollar bills:

Roger L. Albin1 and Jonathan W. Mink2
1
Geriatrics Research, Education, and Clinical Center, Ann Arbor VAMC, Department of Neurology, University of Michigan, MI 48109,
USA
2
Departments of Neurology, Ne\urobiology & Anatomy, and Pediatrics, University of Rochester School of Medicine and Dentistry,
601 Elmwood Avenue, Box 631, Rochester, NY 14642, USA

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Heavy periods as a side reaction to Juvenile Rheumatoid Arthritis treatment


Scientist Noah Scheinfeld advises in journal article that Physicians should be aware that heavy bleeding is a side reaction to Adalimumab treatment and could consider birth control pills as a treatment.

Heavy periods can be caused by other reasons too and they are covered by excellent sites in great detail:
1) Menstruation in adolescents – whats normal
2) Iron deficiency anemia – because heavy bleeding can be one cause of anemia and this would need both nutrition and medical attention.
3) Causes of iron deficiency anemia – because one form of anemia may be from iron deficiency from a range of specific causes. This a New York Times health article and is very thorough.

The articles list in detail many causes and details of heavy bleeding. One of them is pregnancy and miscarriage. So rule that out first before continuing to investigate a medical issue. These articles are amazing in their depth of coverage.

Nutrition is above all most important for a healthy iron level. Take good advice on nutrition, but remind the nutritionist that you could have low haemoglobin anemia and yet have a high iron overload. This may be true in cases of Juvenile Rheumatoid Arthritis.

Anemia can cause heavy bleeding: It is possible to have heavy bleeding from anemia. So, it is a vicious cycle – anemia causes heavy bleeding and this could cause anemia. So, it could be dangerous if nutrition is not monitored and managed to cure the anemia with iron rich foods and mineral rich fruits.

Iron Absorption: The articles cover the range of minerals that aid in iron absorption like Magnesium, Vit C and B 12. So, include this in your diet. Oranges and limes are a must with an iron rich diet of Spinach and meat. Include with stress release to help relax and rest. Anemia needs rest and relaxation and food.

Encourage your scientists in this field: Noah Schienfeld is a leader in this field of research of heavy bleeding and adalimumab. He would be encouraged and inspired by your words of encouragement and your specific questions. Scientists work in isolation and are often not rewarded directly by the people they reach. If you have been bleeding heavily after a treatment of MAbs that healed another serious inflammatory issue, and

Do shower him with accolades and gratefulness and encourage him and his colleagues to speak at your invited gathering and treat him like a celebrity. He will be surprised and happy. Trust me!
Correspondence: Noah Scheinfeld, St Luke’s Roosevelt Hospital Center, Department of Dermatology, New York, NY 10029, USA, NSS32@columbia.edu

Read More: http://informahealthcare.com/doi/abs/10.1080/09546630801955143

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12 LeRoy, NY high school girls with sudden, similar symptoms -Tackling the issue with scientific methodology


When twelve LeRoy high school students, all teenage girls aged around 17 years, suddenly presented with similar symptoms after September 2011, the medical community was baffled. It was a real diagnosis of an illness, and yet, did not appear to follow any of Koch’s rules of a cause or infection.

The girls are obviously still sick three months later and they are distraught, missing out on the best, albeit reasonably stressful, year of school life. Their parents simply want them cured.

The school community was concerned enough to call in the responsible authorities. The parents were informed the school is safe to attend. All was back to normal, except for the fact that the twelve girls are still sick and being told that “it is all in their heads”, “mass hysteria”, “get over it” and others have simply not taken them seriously. One Amherst Psychiatrist has labeled it the “consumption disease” or mass hysteria. A 2013 TV documentary follows the story of these school girls and one boy with similar symptoms:
The Town That Caught Tourettes? (10 PM, TLC):

How do you “catch” Tourettes? I guess we’ll find out:

In the fall of 2011, in a small town in upstate New York, a group of teenage girls from the same high school mysteriously developed symptoms resembling Tourette’s. This documentary follows the lives of the girls at the heart of the baffling outbreak.

It is time to take these girls seriously. Tomorrow, this could happen to another cluster of children or adults and we would still have no scientific system to deal with the results. A country that can send a man to walk on the moon can surely figure out what will trigger such a cluster phenomenon.

Consider the following and get your voice head to get answers now:
1) Tics, and sudden involuntary movements as seen in these girls is usually found in 4:1 ratio in boys, and not girls; why girls and why 12 girls here? Did the hormone estrogen play a role?
2) We know all the 12 girls did not know each other as friends. Did they share a common home product? A new tampon which can give toxic shock syndrome leading to an infection trigger.
3) The group of triggers – it is time to demand mass large scale studies of a group of triggers. It is scientifically not allowed to study a group of triggers in relationship to each other. Only single triggers can be studied, one at a time. In the case of these girls, all known plausible single triggers have been ruled out. Hence, the next obvious step is to study a group of triggers in various combinations. Any maths student can figure out the various combinations to study for Tourettes. For eg:
a: Gardasil and toxic shock syndrome
b: Gardasil and strep throat infection
c: Gardasil and >>>>>
d: A household cleaner and >>>>
e: A soccer field pesticide and an energy drink and >>>>
The community should become more aggressive and demand thorough research. No doctor should be allowed to dismiss a real disease calling it “consumption”. Rise and fight for the health and safety of your communities. You have it inside you. Find your voice.

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Could the vaccine Gardasil cause neurological symptoms as an adverse reaction?


The Lyme Disease vaccine was removed from the market after patients complained about severe arthritis and neurological symptoms after receiving the vaccine.  Is Gardasil not getting enough public anger yet. Nobody died from the Lyme vaccine and the public got attention. Is the Connecticut public simply more intellectual than the rest of America? Or is the rest of America extremely accepting of medical harm, injected by their trusted family Pediatrician in all good faith?

A registered nurse commenting on an article on PANS on Mailonline.com certainly has observed neurological adverse reactions following the Gardasil vaccine. Most of the other comments implicated gardasil.

A mother commented on my article on “LeRoy high school…Tourettes…” that her daughter has been chronically ill since she took her third gardasil shot in 2009. Most of the other comments implicated a vaccine, either gardasil or a swine flu vaccine.

An organization dedicated to gardasil’s adverse reaction lists the names of our young girls with their own or their mother’s version of the history of the development of their symptoms. One common theme in these stories is ‘brain fog’ and stomach pain so severe that doctors recommend operations which parents indicate were unwarranted. If you care and have noticed that adverse reaction reporting is not being done in a scientific manner, or surprised why doctors do not understand the vaccine are dangerous when improperly designed by non-dedicated scientists, then:

write to the people who have provided their emails and leave them messages of support and then use your own voice to be active to protect your own community from negligence.

Henrietta Lacks died from cervical cancer and donated unknowingly her cancer cells to research. She died at the age of thirty and was often infected with STDs by a philandering husband. Her HeLa cells have given so much help to our society. Cancer research progressed with HeLa cells at a fast pace because HeLa cells multiplied faster than any known and available cancer cells in culture. Before HeLa it was difficult to grow a cancer cell in culture.

The Gardasil vaccine’s goal is to prevent the early death from cervical cancer. The aim is commendable. However, the vaccine researchers may have simply taken the virus strains and decided to use standard procedures to create a bottled product.

They would have done well to have heeded the reaction to the Lyme Disease vaccine which was developed by non-dedicated Yale scientists. They had the literature which would have advised against developing a vaccine to OspA protein and could have gone with the OspB bacterial protein. But instead they rushed in their eagerness to fame and licensed the rights to big Pharma, whose regulators did not do their job and apply their expertise to check the literature and earnestly began marketing the drug. Fortunately, the public in Connecticut, where Lyme disease was originally recognised and a vaccine developed, rose against the vaccine in a large group and took the matter to the attention of the Attorney General. The Lyme vaccine was having side effects of rheumatoid arthritis and neurological issues and the vaccine had to be removed from the market. Read the articles published in 2002 by washington medical writer Lauren Neergaard and Dr Andrea Gateo’s comment on the side bar of the article by Lymeinfo.net an advocacy group urging caution with a new vaccine.
Glaxo Smith Kline, the marketer of this vaccine Limerix was miffed.

Is there a pattern emerging here?
1)It is obvious that Gardasil (or swine flu vaccine) alone is not the cause of neurological adverse reactions, otherwise all who receive the vaccine would have similar symptoms.
2) Also, a genetic basis has been ruled out because all who show adverse symptoms appear so far to lack an obvious common genetic profile.
3) Yet, when an online community of concerned parents are observing serious neurological issues following some vaccinations, then their collective observations can no longer be ignored.

What should a community do? As a responsible community, we must begin to ask:
What are the common factors when a cluster of people present with the same symptoms? Please, keep in mind that although logically a number of factors together cause a signal cascade presenting the said neurological symptoms, current scientific methodology allows for testing of only single factors at a time.

Our community should begin to demand large scale multi-factorial cause-effect studies. Trust me, we have the computer tools and the scientists capable of interpreting the results. For example, the New York Department of Health has collected data on some symptoms which have more than 80,000 students. Yet, they lack qualified or even unqualified personnel to simply add more columns with data points asking “Did you get a vaccine x,y or z when you had the common cold or strep throat infection?” They lack scientists to summarize the data collected and interpret it. They have a hiring freeze at a critical time when mass vaccinations are being enforced nationally and internationally.

What can you do? Are you a responsible adult who cares to ensure that we do not harm our children, adolescents and young adults? Then add your voice and begin to question. Just begin. The questions will form.

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Why would twelve LeRoy New York school girls suddenly develop Tourette syndrome – like symptoms?


Jim Dupont and Beth Miller both have daughters who have presented with the tic like symptoms and both do not have a clue why this is happening reports Berkeley Brean of WHEC.com. Tourette is a neurological condition with an uncontrollable tic feature.

Early January 2012, the parents of LeRoy New York students were updated by Dr Gregory Young of the New York State Health Department, the state office of Mental Health and the LeRoy school authority. The parents were informed that although the symptoms presented were real, no cause could be pinpointed. Stress is one factor being blamed.

What factor or a group of factors could trigger a signal cascade to cause a cluster of Tourette like syndromes in one school district?

The parents of the twelve girls who came down around the same time in 2011 with Tourette like symptoms are quite concerned. These were twelve normal girls earlier. Not today. Jim Dupont, a parent interviewed is very upset and not optimistic about his 17 year old daughter’s future. His daughter was ready to drive and now cannot. Beth Miller found that her healthy daughter woke up one morning with twitches.

If you can help these families or help prevent future clusters please let us know by commenting here. We want to hear from you and know that you care. Please read Berkeley Brean’s article which has more from one of the young girls herself. You may also call Jim Dupont or Beth Miller at the numbers below and let them know that you care:
Dupont and Miller are starting a support group for all the parents. They think if they work together they can get somewhere.

Here is the contact information:

Jim Dupont: (585) 746-2001
Beth Miller: (585) 356-7508

We’ve posted the unedited interview with the commissioner from the health department here at http://www.whec.com. We encourage people to watch it. It may not answer all of your questions but it might answer a few.

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Mutations in our genes responsible for higher iron loads


Diagnosing a genetic predisposition for a higher iron load could prevent damage to tissues and organs in the future, which is a complication of long-term higher iron loads. My earlier article summarizes higher iron load with breast cancer and more.

Patent Several scientists have discovered mutations in a gene recently named SLC40A1. One recently awarded United States patent to an Italian scientist (patent number 7718785) awarded May 2010, describes higher iron load issues in general, the existing literature published in the field and the diagnostic tools available in the future should companies be interested in marketing them. Hopefully, this patient pool is taken care of by discerning family physicians.

Detailed description of Invention: The authors of the present invention have identified new mutations in the SLC40A1 gene (Solute Carrier Family) coding for ferroportin 1 (IREG1 or MTP1), previously also named SLC11A3, genetically linked to Hereditary Hemochromatosis or to an Impaired non-HFE iron homeostasis (Hereditary Hemochromatosis).

Mutations cause aminoacid substitutions in the corresponding protein whose expression as a mutated form causes abnormal iron overload in carrier subjects. From the functional point of view indeed ferroportin has a key role in at least two different but correlated aspects of iron homeostasis: in the enterocytes ferroportin causes the uptake of iron introduced by diet, whereas in the reticular endothelial cells particularly in macrophages, it causes the iron release from intracellular stores. Said new mutations are responsible for the Hemochromatosis and are characterized by clinical traits at least partially similar to those already described in Pietrangelo et al. New England Journal of Medicine 1999, 341 (10): 725-732, caused by the mutation of the aminoacid 77 in the ferroportin sequence (A77D mutation) described In WO 02/033119.

Therefore, a first aspect of the invention refers to polymorphic polynucleotides related to mutated SLC40A1 sequences, which encode for mutated forms of the wild type ferroportin 1 and in particular to at least one of the following polymorphisms: polymorphism of the nucleotide corresponding to the nucleotide 238 of the IDN 1 sequence, preferably related to the substitution of a Guanine with an Adenosine (G.fwdarw.A), which causes the replacement of aminoacid 80 with an aminoacid different from Glycine and preferably with Serine (G80S) in the coded protein: the cDNA derived from such polymorphic gene has preferably the IDN3 sequence; polymorphism of the nucleotide corresponding to the nucleotide 521 of the IDN 1 sequence, preferably related to the substitution of an Adenine with a Tymine (A.fwdarw.T), which causes the replacement of aminoacid 174 with an aminoacid different from Asparagine and preferably with Isoleucine (N174I) in the coded protein: the cDNA derived from such polymorphic gene has preferably the IDN5 sequence; polymorphism of the nucleotide corresponding to the nucleotide 744 of the IDN1 sequence, preferably related to the substitution of a Guanine with a Tymine (G.fwdarw.T), which causes the replacement of amino acid 248 with an amino acid different from Glutamine and preferably with Hystidine (Q248H) in the coded protein: the cDNA derived from such polymorphic gene has preferably the IDN7 sequence; or their oligonucleotide fragments comprising the polymorphic nucleotide of at least 10 base pairs.

Example 1

Identification of the Mutations in the Ferroportin Gene

Genomic DNA of index cases, of family members and of control subjects, was extracted from leucocytes obtained by blood samples using a blood DNA extraction kit (Quiagen).

Obtained DNA was then amplified by PCR using primers pair able to amply the whole coding region including exon/intron boundary regions of the ferroportin.

Primers pairs used herein are the following:

TABLE-US-00001 Exon 1: Fw.1: 5′-GGTGCTATCTCCAGTTCCTT-3′ (IDN 9) Rv.1: 5′-GTTCACAGCAGAGCCACATT-3′ (IDN 10) Exon 2: Fw.2: 5′-CAGCTCATTAAGTGACTACCATCGC-3′ (IDN 11) Rv.2: 5′-GGCTTAATACAACTGGCTAGAACG-3′ (IDN 12) Exon 3: Fw.3: 5′-CATAATGTAGCCAGGAAGTGCCC-3′ (IDN 13) Rv.3: 5′-TCCAGAGGTGGTGCCATCTAAG-3′ (IDN 14) Exon 4: Fw.4: 5′-GAGACATTTTGATGTAATGTACAC-3′ (IDN 15) Rv.4: 5′-CTACCAGATATTCAATTTTCTGCC-3′ (IDN 16) Exon 5: Fw.5: 5′-CCACCAAAGACTATTTTAAACTGC-3′ (IDN 17) Rv.5: 5′-TCACCACCGATTTAAAGTGAATCC-3′ (IDN 18) Exon 6: Fw.6: 5′-GTATTGTGTAAATGGGCAGTCTC-3′ (IDN 19) Rv.6: 5′-CCCCACTGGTAATAATAAAACCTG-3′ (IDN 20) Exon 7: Fw.7: 5′-GGCTTTTATTTCTACATGTCCTCC-3′ (IDN 21) Rv.7: 5′-ACATTTAGGGAACATTTCAGATC-3′ (IDN 22) Exon 8: Fw.8: 5′-AAGGTGACTTAAAGACAGTCAGGC-3′ (IDN 23) Rv.8: 5′-GCTGACTTAGGTTTCCTAAACAGC-3′ (IDN 24)

The amplification of the regions corresponding to each exon was performed as follows: 200 ng of genomic DNA were amplified in 50 .mu.l of reaction buffer 1.times. containing dNTPs 200 .mu.M, MgCl2 1.5 mM, 25 pmoles of each of the aforementioned oligonucleotides, 1 U of Taq polymerase (Applied Biosystems).

In the amplification reaction was used a program of 30 cycles, each characterized by the following thermal profile:

94.degree. C. for 1 minute,

58.degree. C. for 40 seconds,

75.degree. C. for 5 minutes.

Obtained fragments were purified and sequenced by automatic sequencing with the Backman Coulter Sequencer. The sequence analysis allowed the identification of the G80S mutation in the exon 3 and the N174I and Q248H mutations in the exon 6, as compared to the wild type sequence (GenBank accession number; AF231121) that was not detected in any of the control subjects.

A further evaluation of the mutations was performed by the digestion of an aliquote of the same first PCR product with endonucleases whose restriction site is modified by the nucleotide substitution.

In particular, the Q248H mutation was verified by digestion according to the Manufacturers Instructions (New England Biolabs), the first product of PCR with the PvuII enzyme, which cut into GC in the 5’CAGCTG 3′ sequence. The G.fwdarw.T base substitution in the mutated sequence removes the restriction site of the enzyme.

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A young girl holding the pink breast cancer ribbon

Dr Miller and colleagues from cancer centers of North Carolina studied the genetic signatures of 674 breast cancer patients to predict how regulation of iron by an individual is linked to recovery. They published their work in the November issue of the journal Cancer Research in 2011.

Genes involved: There are 61 genes involved in regulation of iron and of them 49% appeared to be significantly associated with metastasis -free survival. This has a potential to affect therapeutic decision making.

Regulators of iron efflux: Dr. Nemeth and colleagues from California and Boston hospitals reported in an article in the journal Science in 2004 on how the liver regulates cellular iron levels. Hepcidin is a hormone secreted by the liver in response to iron loading and inflammation. Decreased hepcidin leads to tissue iron overload whereas increased hepcidin leads to hypoferremia and the anaemia of inflammation. (cancer research 71:6728)

The hormone hepcidin binds to a protein ferroportin on the surface of cells. This signals the cells to internalize the protein ferroportin and degrade it. This leads to decreased export of cellular iron. This is a loop. Iron regulates the secretion of hepcidin from the liver, which regulates internalization of the protein ferroportin on cell surfaces, which controls iron export from cells. Less export leads to overload of iron in cells.

Iron overload disorders: It is important to have a balanced amount of iron in the cells. Too much or too little iron is bad. The amount of iron differs during different stages in one’s life with a menstruating woman needing far more iron than a post menopausal woman. An excellent 2011 review in the journal, Internal Journal of Hematology by Dr  Kaplan and colleagues at Utah school of Medicine summarizes the current knowledge on levels of iron in cells, disorders and anaemia.

Special Diet for iron overload: Read the Hemochromatosis cookbook and this excellent blog from the Iron Disorders Institute:: Iron overload. Find a doctor immediately who will listen to you and is knowledgeable about this topic. Usually a gastroenterologist or hematologist. Blood donation is often the suggested therapy for iron overload and appears to help.

Scientist to encourage in this field: If research in this field is important to you then do write to the researchers involved in such research and encourage them. The value of Dr Miller’s work can be emphasized by emailing her colleague Dr Torti E-mail: ftorti@wakehealth.edu

Dr Kaplan to encourage and for questions on iron overload Email:  jerry.kaplan@path.utah.edu

Scientists work alone, often long hours in isolated settings. Letting them know that you consider their work important inspires them and spurs them to undertake often risky research. Help them find funding. Shower them with accolades.

If you found this article useful, please let me know by either hitting the like button here or in the “About” section (if you enjoyed more than one article here). It would help me to know which topics you would want me to research and write here.

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January 5, 2012 · 4:20 pm