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Pfeiffer syndrome

Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. In addition, the thumbs and big toes are broader and often shorter than normal. more...

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Many of the characteristic facial features of Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to bulging and wide-set eyes, an underdeveloped upper jaw, and a beaked nose. About 50 percent of children with Pfeiffer syndrome have hearing loss, and dental problems are also common. Additionally, the thumbs and big toes are broader than normal and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).

Pfeiffer syndrome is divided into three subtypes. Type 1 or "classic" Pfeiffer syndrome has symptoms as described above. Most individuals with type 1 have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome, often involving problems with the nervous system. Type 2 is distinguished from type 3 by more extensive fusion of bones in the skull, leading to a "cloverleaf" shaped head.

Pfeiffer syndrome affects about 1 in 100,000 individuals.

Genetics

Mutations in the FGFR1 and FGFR2 genes cause Pfeiffer syndrome. The FGFR1 and FGFR2 genes play an important role in signaling the cell to respond to its environment, perhaps by dividing or maturing. A mutation in either gene causes prolonged signaling, which can promote early maturation of bone cells in a developing embryo and the premature fusion of bones in the skull, hands, and feet.

Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene.

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Read more at Wikipedia.org


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Hair analysis can permit accurate diagnosis and treatment - Letters to the Editor - Letter to the Editor
From Townsend Letter for Doctors and Patients, 4/1/04 by Jacquie Lynne Lemke

Editor:

It was with the greatest of interest I read the January 2004 TLfDP which highlighted Alternative Laboratory Examinations. In my practice as an Orthomolecular Nutritionist, I began specializing in Hair Tissue Mineral Analysis [HTMA] two years ago after interning with Joseph D. Campbell, PhD one of the great pioneers in HTMA research. I would like to respond to comments made by Richard Malter, PhD regarding, HTMA and will make reference to my own and other clinical data.

Dr. Malter writes, "The test results are nonspecific in the same way that the stress response is general and nonspecific." I do not concur with his opinion and say that HTMA test results can be very specific, pointing to elemental toxicities and deficiencies. For an example, it has been demonstrated that elevated toxic aluminum produces neurological symptomatolgy. (2), (4-6), (7), (9) Biochemical profiles of children with Attention Deficit Hyperactivity Disorder [ADHD] show toxic elevations of heavy metals as well as deficient nutrient elements. (2), (5-7), (9), (10) It has also been evidenced that toxic levels of an essential mineral, e.g., Cu, may produce behavioral abnormalities. (4-7), (9) My own clinical work affirms these findings. Every child diagnosed with ADHD I have done a HTMA for has had intoxication of at least one heavy metal. Two children had intoxication of three heavy metals plus a very high level of copper.

Regarding Dr. Malter's discussion on subclinical hypothyroidism, I agree that this condition is often overlooked by allopathic physicians. It is prudent to take into account, not only symptoms and medical history, but in examining a HTMA report, one must also realize some basic biochemical reasons thyroid function can break down. Iron is a co-factor in the biochemical conversion of phenalalinine to tyrosine. [Thyroid hormone is made from tyrosine.] Manganese is used to help convert tyrosine to thyroxin [T4]. Iodine is also involved. Once thyroxin is produced, it goes to the liver where some is set aside for reserve. This is called reserve T4. In the liver it is changed to T3. This conversion is dependent upon zinc. Mineral imbalances and heavy metal toxicity will interfere with this conversion. Electrolyte balance is imperative for metabolic absorption of T3. Once absorbed by the cell, selenium aids in T3 function. Selenium is also critical in the production of an enzyme that facilitates in the conversion of T4 to T3. Low selenium levels will cause inactivity of the hormone. Nutritional imbalances of one or more of the necessary nutrients in thyroid hormone production can cause a condition where the enzymes involved in T3 conversion and in hormone metabolism can be compromised by reserve T4. The basis for low thyroid conditions that do not show up in blood work is that the nutrients involved in the conversion of T4 to T3 become too low, and heavy metal toxicity may also be involved. So, while the hormone levels may show up normal in the blood, the hormone is of poor quality and does not work well.

Dr. Malter states, "Since TMA data reflect the mind/body connection by means of the stress response, a psychological component needs to be included in any meaningful interpretation of these types of data." [Italics added] Rather than a "psychological component," in my view what is absolutely necessary for a thorough analysis and interpretation of a HTMA is what Leo Galland, MD called "a patient-centered diagnosis." This comprehensive summary includes a patient profile consisting of, a physical examination {if possible}, plus analysis of: present physical environment, past exposure to environmental toxins, medical history, physical symptoms, individual diet and lifestyle, medication history, supplementation, and a stress indication synopsis.

In reference to HTMA, Dr. Abram Hoffer and Dr. Morton Walker write, "The results are reproducible and reliable. They are very valuable for measuring the mineral status of the body using live tissue. The mineral status measured represents the status at the time the hair was still in the follicle. Heavy metal intoxication will produce hyperactivity in children, the schizophrenic syndrome in adults and probably some cases of senility. (7) [Italics added] Again, my own experience concurs with these clinical findings. Adult patients I have seen with HTMA records of toxic copper status have been given allopathic diagnosis of depression, premenstrual syndrome, manic depression, schizophrenia, or have been told "there is nothing wrong with you; it's all in your head!" Many have not sought out conventional medicine fearing these very words.

Much of the controversy with HTMA comes from the laboratory procedures. Different labs presently use different sample preparation, washing procedures to no washing procedure, and quality control procedures. Dr. George Tamari, Director of Anamol Laboratories in Concord, Ontario Canada states, "Unfortunately, there isn't a generally accepted consensus in this matter ... Unless this question is resolved, there is no hope to receive the expected identical results from the different laboratories!" (8)

In conclusion, it has been established that the elemental composition of human scalp hair and animal hair is determined, partially, by a wide variety of external chemical compounds the donor has knowingly and unknowingly been exposed to, including endogenous and exogenous environments. It is equally certain that systemic intoxication of heavy metals is reflected by elevations of their concentrations in the hair and in other tissues.

Thirty-eight years ago, Strain et al. proposed the use of scalp hair as a "reliable, simple, and atraumatic method for assessing zinc body stores." (1) Since that time there have been extensive discussions by Passwater and Cranton, (2) Bland, (3) Chart and Katz, (4) Watts, (5) Campbell, (6) and others too numerous to mention, on personal research and clinical findings regarding how mineral nutrients and elemental pollutants affect human health, and how the determination of trace elements in human scalp hair may identify deficiencies of essential trace elements and exposures to toxic elements.

I wholeheartedly agree with Dr. Malter when he states, "We already have far too many cases of 'clinical' guesswork in standard medical and psychiatric practice, and Dr. Donald Carrow's statement, "There are as many bad doctors in alternative medicine as there is in orthodoxy." Many patients have come to me with HTMA reports handed to them with no explanation, or, with questionable and erroneous evaluations. Without a thorough knowledge of nutritional biochemistry, a background in biomedical science, and familiarity with biochemical research in the field of HTMA, accurate analysis and interpretation of HTMA lab reports will continue to be less than optimal.

References

(1.) Strain, W.H., Steadman, L.T., Lankau, C.A., Berliner, W.P., and Pories, W.J., Lab. Clin. Med., 1966, 68, 244-249

(2.) Passwater, R.A., and Cranton, EM., Trace Elements, Hair Analysis, and Nutrition, Keats Pub. Co., 1983.

(3.) Bland, J., Hair Tissue Mineral Analysis, Northwest Diagnostics, 1980.

(4.) Chatt, A., and Chatt, S.A., Hair Analysis: Applications in the Biomedical and Environmental Sciences, VCH Pub. 1988.

(5.) Watts, D., Trace Elements and Other Essential Nutrients, Writer's B-L-O-C-K, 1999.

(6.) Campbell, JD., Numerous published papers, plus personal communications.

(7.) Hoffer, A., Walker, M., Putting It All Together: The New Orthomolecular Nutrition, Keats Pub. Co. 1996, 153, 156.

(8.) Tamari, G., Anamol Lab Newsletter, Spring 2002.

(9.) Pfeiffer, CC., Nutrition and Mental Illness, Healing Arts Press, 1987.

(10.) LeClair, J.A., and Quig, D.W., Mineral Status, Toxic Metal Exposure and Children's Behavior, 2001, Vol. 16: 13-32, J. of Ortho. Med.; Hair Lead and Cadmium Levels and Depressive and Anxiety-Related Symptomology, 2003, Vol. 18: 97-107, J. of Ortho. Med.

Jacquie Lynne Lemke, Director

Genesis Metabolic Therapy

Professional Services Corporation

112,548 Dallas Road

Victoria, BC, V8V 1B3 Canada

250-382-4793

jllemke@shaw.ca

COPYRIGHT 2004 The Townsend Letter Group
COPYRIGHT 2004 Gale Group

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