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Aicardi syndrome

Aicardi syndrome is a congenital disorder thought to result from an abnormality of the X chromosome and characterized by absence of the corpus callosum, retinal abnormalities, and seizures (often infantile spasms). more...

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History

It was first described by Jean Aicardi, a french neurologist in 1965.

Epidemiology

There are about 500 cases worldwide, almost all of them in females, because it is thought to be lethal in otherwise genetically normal males. It has been identified in males with Klinefelter syndrome, who have an extra X chromosome.

Pathophysiology

Features

Children are most commonly identified with Aicardi Syndrome between the ages of three and five months. A significant number of these girls are products of normal births and seem to be developing normally until around the age of three months, when they begin to have infantile spasms. The onset of infantile spasms at this age is due to closure of the final neural synapses in the brain, a stage of normal brain development.

Prognosis varies widely, though all experience developmental delays of some degree, typically moderate to profound mental retardation. They are often happy, friendly girls, and many enjoy stimming with their hands.

Diagnosis

Aicardi syndrome is characterized by the following "markers":

  1. Absence of the Corpus callosum, either partial or complete (Agenesis of the corpus callosum).
  2. Infantile spasms
  3. Lesions or "lacunae" of the retina of the eye that are very specific to this disorder
  4. Other types of defects of the brain such as microcephaly, enlarged ventricles, or porencephalic cysts

Treatment

Treatment of Aicardi syndrome primarily involves management of seizures and early/continuing intervention programs for developmental delays.

Prognosis

The known age range of affected children is from birth to the mid 40’s.

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Infectech Inc. Chief Scientists Published in BioTechniques on a Potential Cancer Treatment and Research Tool
From Business Wire, 5/17/99

SHARON, Pa.--(BW HealthWire)--May 17, 1999--

Thomas A. Kelly, Ph.D., a research scientist of Infectech Inc. (National Quotation Service:IFEC), a Sharon, Pa. biotechnology company, in collaboration with Mitchell S. Felder, M.D. and Robert A. Ollar, Ph.D., has filed a patent for a novel method of inducing apoptosis -- also called Programmed Cell Death (PCD) by using hydrophobic hydrocarbons, notably paraffin -- a common household substance found in candles.

Apoptosis, which can be thought of as "cell suicide," is a natural process that occurs in the body to eliminate unwanted cells. It is a necessary and natural process -- nature's way of pruning her cellular garden. If the mechanism of inducing apoptosis can be understood, this would be enormously useful in a variety of disease states to eliminate undesirable cells, including cancer.

Many modalities for cancer therapy use drugs that in themselves are toxic, not only to cancer cells, but to healthy cells as well. Dr. Kelly's use of paraffin to induce cell death has an important advantage in that paraffin is non-toxic and its effect is local -- cells die only in contact with paraffin.

Dr. Kelly's article, "The Induction of Cell Death by Hydrophobic Hydrocarbons" appears in the May 1999 issue of BioTechniques, the leading biotechnology journal.

Dr. Kelly stated that, "We believe hydrophobic hydrocarbons are inducing cell death by changing the cyto-architecture of the cell, causing the cell to die, just as altering the structure of a building causes it to collapse.

"We are all tremendously excited about this work, as it may point to a better, less toxic, easier and safer way to kill cells in the body -- the hallmark of therapeutic modalities in the future."

Dr. Felder stated that, "This is very exciting to us as it could theoretically be used for inducing apoptosis in leukemic cells and other types of cancer cells. It could also serve as a possible experimental model in investigating many other devastating medical conditions such as Spinal Muscular Atrophy, certain birth defects such as Aicardi's Syndrome and T-cell apoptosis associated with HIV infection. What is most exciting about this method is its potential for a nontoxic cancer treatment."

Infectech Inc., founded in 1989, is a biotechnology company which owns 26 patents for the rapid identification and antibiotic sensitivity testing of 34 disease-causing bacteria. Among these bacteria are Tuberculosis, Pseudomonas, M. avium and Nocardia. These bacteria play a prominent role in causing the death of patients with cancer, Cystic Fibrosis and AIDS and also patients undergoing surgery. The company's main thrust is the development of a system for rapidly identifying bacteria infecting hospital patients utilizing its patented baiting technology in combination with fluorescent amplification. Infectech has been working with Breakthru Technologies, LLC, an Alexandria, Va. consulting firm which assists new and emerging companies. The Infectech Website is www.infectech.com. J. Alexander Securities Inc., Los Angeles, Calif., is the market maker for Infectech Inc. whose stock symbol is IFEC.

The above news release contains forward-looking statements. These statements are based on assumptions concerning production and sales, operating expenses, and other costs that management believes are reasonable based on currently available information. However, management's assumptions and the company's future performance are both subject to a wide range of business risks and there is no assurance that these goals and projections can or will be met.

COPYRIGHT 1999 Business Wire
COPYRIGHT 2000 Gale Group

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