Tag Archives: Human brain

Gorlin syndrome

Alternative Names:Nevoid basal cell carcinoma syndrome (NBCCS),basal cell nevus syndrome, multiple basal cell carcinoma syndrome and Gorlin–Goltz syndrome

Gorlin syndrome is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancers.

You may click to see more pictures of  Gorlin syndrome

People with the syndrome have a predisposition to multiple basal cell carcinomas (a form of skin cancer), jaw cysts and other generally harmless abnormalities in the bone. The severity of the disease can be wide-ranging.

About 10% of people with the condition do not develop basal cell carcinomas (BCCs). the name Gorlin syndrome refers to researcher Robert J. Gorlin (1923–2006).

First described in 1960, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal cell carcinoma, a malignant type of skin cancer. The prevalence is reported to be 1 case per 56,000-164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm 9q. If a child inherits the defective gene from either parent, he or she will have the disorder

About 750,000 new cases of sporadic basal cell carcinomas (BCCs) occur each year in the United States. Ultraviolet (UV) radiation from the sun is the main trigger of these cancers, and people with fair skin are especially at risk. Most sporadic BCCs arise in small numbers on sun-exposed skin of people over age 50, although younger people may also be affected. By comparison, NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in Australia. One aspect of NBCCS is that basal cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of palmer and plantar pits. One of the prime features of NBCCS is development of multiple BCCs at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.

Some or all of the following may be seen in someone with Gorlin Syndrome:

1.Multiple basal cell carcinomas of the skin
2.Odontogenic keratocyst: Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 yrs average).
3.Rib and vertebrae anomalies
4.Intracranial calcification
5.Skeletal abnormalities: bifid ribs, kyphoscoliosis, early calcification of falx cerebri (diagnosed with AP radiograph)
6.Distinct faces: frontal and temporopariental bossing, hypertelorism, and mandibular prognathism

What genes are related to Gorlin syndrome?
Mutations in the PTCH1 gene cause Gorlin syndrome. This gene provides instructions for making a protein called Patched-1, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. A protein called Sonic Hedgehog is the ligand for the Patched-1 receptor. Patched-1 prevents cell growth and division (proliferation) until Sonic Hedgehog is attached.

The PTCH1 gene is a tumor suppressor gene, which means it keeps cells from proliferating too rapidly or in an uncontrolled way. Mutations in this gene prevent the production of Patched-1 or lead to the production of an abnormal version of the receptor. An altered or missing Patched-1 receptor cannot effectively suppress cell growth and division. As a result, cells proliferate uncontrollably to form the tumors that are characteristic of Gorlin syndrome.

You may click to learn more about the PTCH1 gene.

How do people inherit Gorlin syndrome?
Gorlin syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the features that are present from birth, such as large head size and skeletal abnormalities. An affected person often inherits a PTCH1 mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. For tumors to develop, a mutation in the other copy of the PTCH1 gene must occur in certain cells during the person’s lifetime. Most people who are born with one PTCH1 mutation eventually acquire a second mutation in certain cells and develop basal cell carcinomas and other tumors.

Gorlin syndrome is an autosomal dominant condition. The abnormal gene is found on chromosome 9. New mutations (where neither parent carries the gene) are common.

Diagnosis of NBCCS is made by having 2 major criteria or 1 major and 2 minor criteria.

The major criteria consist of the following:

1.more than 2 BCCs or 1 BCC in a person younger than 20 years;
2.odontogenic keratocysts of the jaw
3.3 or more palmar or plantar pits
4.ectopic calcification or early (<20 years) calcification of the falx cerebri
5.bifid, fused, or splayed ribs
6.first-degree relative with NBCCS.

The minor criteria include the following:

2.congenital malformations, such as cleft lip or palate, frontal bossing, eye anomaly (cataract, colobma, microphtalmia, nystagmus).
3.other skeletal abnormalities, such as Sprengel deformity, pectus deformity, polydactyly, syndactyly or hypertelorism.
4.radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
5.ovarian and cardio fibroma or medulloblastoma (the latter is generally found in children below the age of two).
People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. They should reduce UV light exposure, to minimize the risk of BCCs. They should also be advised that receiving Radiation therapy for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition.

Genetic counseling is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected.

Although there’s no cure, the carcinomas can be treated by surgery, lasers or photodynamic therapy, which reduces scarring.

If there’s a family history of the syndrome, it’s possible for family members to be tested to see if they carry the faulty gene.

Those with Gorlin syndrome are now advised to avoid – or to take advice before undergoing – any radiation treatment, as it’s thought it may exacerbate the condition.

Treatment is usually supportive treatment, that is, treatment to reduce any symptoms rather than to cure the condition.

*Enucleation of the odontogenic cysts can help but new lesions, infections and jaw deformity are usually a result.
*The severity of the basal cell carcinoma determines the prognosis for most patients. BCCs rarely cause gross disfigurement, disability or death .

*Genetic counseling

Advice and support:-
•Gorlin Syndrome Group
•Tel: 01772 496849
•Email: info@gorlingroup.org
•Website: www.gorlingroup.org

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose.


Enhanced by Zemanta

Dimethylaminoethanol (DMAE)

chemical structure of dimethylaminoethanol (DMAE)

Image via Wikipedia

Dimethylaminoethenol (DMAE) is a metabolite, a product produced by the body’s metabolic process of procaine. It is a central nervous system stimulant that has a mild impact. It’s effect is similar to an amphetamine, but it is not such a drug. The term DMAE is actually an abbreviation for dimethylaminoethanol, a naturally occurring chemical produced by the human brain. It is a choline molecule that has one methyl group missing from the nitrogen, and it may be for this reason that it can cross the blood-brain barrier more easily than choline. While choline is known to be the precursor of acetylcholine, a recognized neurotransmitter, DMAE may prove to offer a more direct approach to this function by moving into the brain, being acted on by an enzyme (methylation), and thereby undergoing conversion into choline directly where it is needed.


Although free-radicals are a natural result of the human body’s activity, the human equilibrium may be upset because of modern diet and environmental conditions that add further stressors to the system. These conditions cause a need for additional antioxidants in order for the body to cope with industrialized life. Antioxidants seem to reinforce one another, and for this reason it seems prudent to combine the use of several rather than to rely on only one type.

Dimethylaminoethanol, also known as DMAE or dimethylethanolamine, is an organic compound. This compound also goes by the names of N,N-dimethyl-2-aminoethanol, beta-dimethylaminoethyl alcohol, beta-hydroxyethyldimethylamine and Deanol. It is a liquid with a color that ranges from clear to pale yellow.

DMAE is known chemically as dimethyl-amino-ethanol. DMAE has been known in Europe by the product name Deanol for more than three decades. DMAE has two methyl groups and is chemically similar to choline. DMAE has been popular for many years in those interested in improving mental alertness and clarity of thinking.

Industrial uses
Dimethylaminoethanol is used as a curing agent for polyurethanes and epoxy resins. It is also used in mass quantities for water treatment, and to some extent in the coatings industry. It is used in the synthesis of dyestuffs, textile auxiliaries, pharmaceuticals, emulsifiers, and corrosion inhibitors. It is also an additive to paint removers, boiler water and amino resins.

Biochemical precursor
Dimethylaminoethanol is related to choline and is a biochemical precursor to the neurotransmitter acetylcholine, and found naturally in fish like sardines and anchovies. It is reported to have nootropic effects, although research on this chemical has found both positive and negative potential results.

It is believed that dimethylaminoethanol is methylated to produce choline in the brain[1]. It is known that dimethylaminoethanol is processed by the liver into choline; however, the choline molecule is charged and cannot pass the blood-brain barrier.

Short term studies have shown an increase in vigilance and alertness, with a positive influence on mood. Long term studies are equivocal. Some showed dimethylaminoethanol to increase the lifespan of animals in which it was tested, while others indicate a possible reduction in the average life span of quail.  With the uncertainty of whether this could be extrapolated to humans, dimethylaminoethanol supplementation is not generally recommended. It is possible that dose is a major determining factor in the overall effects of dimethylaminoethanol – a high dose could produce effects opposite to those sought and contribute to life-shortening.

DMAE Research for Alzheimer’s, memory loss, age related mental decline
Studies with DMAE go back to the 1950s. One double blind, placebo-controlled trial performed in twenty-seven patients with severe Alzheimer’s disease did not show significant benefits (Fisman 1981). Another study on twenty-one patients with memory deficits was also discouraging since no improvement was found in memory (Caffarra 1980). However, DMAE was found helpful in patients with age related mental decline. DMAE was given for four weeks to fourteen older patients (Ferris 1977). Ten patients improved and four were unchanged. The patients on DMAE had reduced depression, less anxiety, and increased motivation, but they had no improvement in memory. The researchers say, “the results thus suggest that although DMAE may not improve memory, it may produce positive behavioral changes in some senile patients.” Dementia is a term that is now substituted for senility and is sometimes used to denote a severe case of age related cognitive decline.

DMAE has been touted as an anti-aging nutrient but there have not been any human studies evaluating the claim that DMAE slows aging.

DMAE Positive effects – Benefit of DMAE – DMAE Enhances Mood and Alertness
Most people notice being more alert and focused within a couple of hours after taking DMAE. The DMAE benefit of alertness and focus can last most of the day. A few report a higher sense of wellbeing. DMAE is recommended to be taken in the early part of the day. I also like the mind boosting effect of Acetyl-l-carnitine, but my favorite is a combination of several nutrients and herbs, including DMAE bitartrate, found in Mind Power Rx.

There are dozens of herbs and nutrients available in health food stores that influence mental function. One that has been popular for many years is DMAE, which stands for dimethyl-amino-ethanol. A recent German study evaluated the brain’s electrical reaction during presentation of videoclips of 7 minute duration in 80 subjects with borderline emotional disturbance. The researchers recorded the different emotional states by having the subjects watch these film excerpts. Half of the subjects were then started on a daily dose of DMAE and the testing was repeated after 6 and 12 weeks. The testing included showing the videoclips, filling out mood questionnaires, and also evaluating the brain’s electrical reaction through EEGs (electrodes placed on the scalp that measure brain activity) . The results showed that those who took the DMAE daily had a decrease in theta and alpha1 brain electrical activity indicating that they were more alert. Furthermore, the questionnaires revealed that those on DMAE had a better mood. The researchers conclude, “DMAE can be interpreted to induce a psychophysiological state of better feeling of wellbeing on both levels of analysis mood and electrical pattern of brain activity in subjects suffering from borderline emotional disturbance.”

Dr Sahelian says: Most people notice being more alert and focused within a couple of hours after taking DMAE. DMAE is available in dosages ranging from 100 to 400 mg. It is best to start with a low dose, such as 50 to 150 mg of actual DMAE since high doses can cause anxiety, restlessness, and muscle tenseness in the neck and shoulders. DMAE taken late in the day may cause insomnia.

Efficacy of dimethylaminoethanol (DMAE) containing vitamin-mineral drug combination on EEG patterns in the presence of different emotional states. Dimpfel W. Forschung und Entwicklung -, Kurt-Schumacher-Str. 9, D-35440 Linden, Germany. Eur J Med Res. 2003 May 30;8(5):183-91.

The psychophysiological model of provoking different emotional states by watching film excerpts with various emotional contents was used to characterize drug action in 80 subjects (male /f emale = 50%) with threshold emotional disturbance within a randomized, group-parallel, double-blind, placebo-controlled study. Analyzing the brain’s electrical reaction during presentation of 5 videoclips of 7 min duration followed by 3 minutes pause revealed a content specific representation of topographical frequency changes. This procedure was repeated after 6 and 12 weeks of daily intake of a vitamin-mineral drug combination containing dimethylaminoethanol (DMAE) or placebo. Subjects taking DMAE supplement for 3 months developed significant less theta and alpha1 power in sensomotoric areas of the cortex. Since decreases in theta and alpha1 electrical power have been associated with increased vigilance and attention, subjects taking DMAE combination obviously were more active and felt better. Therefore the vitamin-mineral combination containing DMAE can be interpreted to induce a psychophysiological state of better feeling of wellbeing on both levels of analysis mood and electrical pattern of brain activity in subjects suffering from borderline emotional disturbance.

DMAE Side effects
DMAE is available in varying dosages. It is best to start with a low dose, such as 50 to 150 mg of actual DMAE to avoid DMAE side effects. High doses can cause anxiety, restlessness, and muscle tenseness or stiffness in the neck, jaw, and shoulders. DMAE taken late in the day may cause insomnia. Other DMAE side effects on high dosages include irritability, headache, and overstimulation.

DMAE Availability
DMAE is usually sold by the name of DMAE bitartrate. A 350 mg pill of DMAE bitartrate yields 130 mg of actual DMAE. It is also available as DMAE liquid. One product contains 35 mg of DMAE per drop. Most users notice an effect from 50 to 150 mg of actual DMAE or 150 to 350 mg of DMAE bitartrate.

click to see

DMAE Summary
DMAE can be helpful in the elderly who have cognitive decline. This nutrient can also be taken by an adult of any age who needs to be more focused and alert.

DMAE and Skin
A recent study shows DMAE cream is able to increase firmness of skin. Perhaps DMAE cream has anti-wrinkle potential. See below for the abstract.

The role of dimethylaminoethanol in cosmetic dermatology.
Am J Clin Dermatol. 2005;6(1):39-47. Grossman R.
Johnson and Johnson Consumer Products Worldwide, Skillman, NJ 08558
Skincare formulations for the improvement of aging skin are increasingly important consumer products. Here, we review available data on one such agent – 2-dimethylaminoethanol ( DMAE ) or deanol – that has recently been evaluated in a placebo-controlled trial. DMAE is an analog of the B vitamin choline and is a precursor of acetylcholine. Although the role of acetylcholine as a neurotransmitter is well known, growing evidence points to acetylcholine as a ubiquitous cytokine-like molecule that regulates basic cellular processes such as proliferation, differentiation, locomotion, and secretion in a paracrine and autocrine fashion. Indeed, this modulatory role may contribute to the cutaneous activity of DMAE. In a randomized clinical study, 3% DMAE facial gel applied daily for 16 weeks has been shown to be safe and efficacious in the mitigation of forehead lines and periorbital fine wrinkles, and in improving lip shape and fullness and the overall appearance of aging skin. Conclusions: Thus, the benefits of DMAE in dermatology include a potential anti-inflammatory effect and a documented increase in skin firmness with possible improvement in underlying facial muscle tone. Studies are needed to evaluate the relative efficacy of DMAE compared with other skin-care regimens (e.g., topical antioxidant creams, alpha-hydroxy acids).

Split face study on the cutaneous tensile effect of 2-dimethylaminoethanol (dmae) gel.
Skin Res Technol 2002 Aug;8(3):164-7
Beyond subjective assessments, the effect of skin tensors is difficult to assess. The present 2-phase randomized double-blind split face study was designed to compare the effect of a gel containing 3% 2-dimethylaminoethanol (deanol, DMAE) with the same formulation without DMAE. METHODS: In a first pilot study, sensorial assessments and measures of the skin distension under suction were performed in eight volunteers. In a second study conducted in 30 volunteers, shear wave propagation was measured. RESULTS: Large interindividual variations precluded any significant finding in the first study. The DMAE formulation showed, however, a significant effect characterized by increased shear wave velocity in the direction where the mechanical anisotropy of skin showed looseness. The DMAE formulation under investigation increased skin firmness.


Enhanced by Zemanta

Madness, a Price for Maths

An intact human brain.Image via Wikipedia

Scientists suggest that schizophrenia may be a result of the evolutionary demand for bigger brain size in humans.

Some people might be paying a price for humanity’s capacity to engage in mathematics, philosophy, science and the arts. A new study of brains and genes suggests that schizophrenia, the chronic debilitating brain disorder that sometimes defies treatment and remains a medical mystery, might be an undesirable by-product of evolution that has given humans unique, highly-evolved brains.

Researchers in China, Germany and the UK have discovered a large overlap across key genetic and molecular processes in the brain that have changed during human evolution and the biological processes observed in schizophrenia.

Philipp Khaitovich at the Max Planck Institute of Evolutionary Anthropology, Leipzig (Germany), and his colleagues have found that the activity levels of several genes that are altered in schizophrenia changed rapidly during evolution. Most of these changes involve genes that play a key role in energy consumption by the brain which happens to be the most energy-demanding organ in the body.

The new findings suggest that schizophrenia is a by-product of the increased energy demand brought about during human brain evolution, says Khaitovich, currently at the Partner Institute for Computational Biology, Shanghai Institutes for Biological Sciences, Shanghai. The researchers presented their findings last week in the journal Genome Biology.

The study is part of an effort to search for the molecular changes that can account for the evolution of human cognitive abilities — intellect, higher thinking and reasoning. Scientists believe the human brain has dramatically evolved over the past five to seven million years since the split from the common ancestor of humans and chimpanzees, humans’ closest living relatives.

But efforts to compare gene activity in brains and pinpoint these molecular mechanisms that might account for the differences between the capabilities of human and chimpanzees haven’t thrown up any dramatic insights into what makes humans, well, humans. Such studies have revealed differences in gene activities, but the ones specifically related to higher thought processes remain unknown.

Khaitovich and his colleagues reasoned that an alternative approach would be to study how genes change in disorders of the brain that affect thought processes. They picked schizophrenia, an illness marked by delusions, hallucinations and disordered thinking which, psychiatrists say, affects about one in 100 people.

The researchers studied post-mortem brains of healthy people and of schizophrenia patients and compared them with chimpanzee and rhesus monkey brains. They also looked for differences in gene activity and levels of brain chemicals.

The analysis revealed that selected genes and chemicals relating to the energy needs of the brain are altered in schizophrenia and, simultaneously, appear to have changed during human evolution.

These results suggest that the brain’s energy use could be a key factor underlying its capacity for higher thought processes, not observed in other species. This is not surprising at all. The human brain is an energy guzzler. Humans spend about 20 per cent of their total energy on the brain, compared to only about 12 per cent by non-human primates and about 2 per cent to 8 per cent by other vertebrates.

And several studies have shown that brain energy use is altered in brain disorders such as schizophrenia. They have revealed deficiencies in blood flow — the source of energy to brain cells — in the region called the prefrontal cortex in patients with schizophrenia, who were asked to perform complex tasks. Post-mortem studies of schizophrenia brains also show depressed activity of energy-related genes.

The findings may lead to new ways of investigating the brain mechanisms that make humans humans, and those that account for schizophrenia, a condition recognised as a distinct disorder by German psychiatrist Emil Kraepilin nearly 120 years ago.

“Our brains are unique among all species in their enormous metabolic (energy) demand,” says Khaitovich. “If we can better explain how our brains sustain such a tremendous metabolic flow, we will have a much better chance to understand how the brain works and why it sometimes breaks.”

But some neuroscientists believe the new findings should be viewed as preliminary, requiring further authentication because disruptions in energy use by brain cells isn’t a problem exclusively associated with schizophrenia. “Problems with energy metabolism also show up in a number of other brain disorders,” says Vijayalakshmi Ravindranath, director of the National Brain Research Institute, Gurgaon.

Khaitovich and his colleagues concede that more research involving a wider range of neuropsychiatric disorders would be necessary. Who knows, there might also be other potential penalties the human brain is forfeiting for all its superior capabilities!

Sources: The Telegraph (Kolkata, India)

Zemanta Pixie

Video games could improve eyesight

NEW YORK: Playing video games that involve firing guns could improve eyesight, suggests a study….CLICK & SEE

Playing ‘Gears of War‘, ‘Lost Planet‘, ‘Halo‘ and other action video games can improve eyesight, say Daphne Bevelier of the University of Rochester and other researchers who conducted tests on 10 male college students.

The students started out as non-gamers and then received 30 hours of training on first-person shooter action video games, reports the online edition of FOX News.

The participants showed a substantial increase in their ability to see objects accurately in a cluttered space compared to 10 non-gamers given the same test.

Most aspects of vision have to do with the size of one’s eye and the thickness and shape of the cornea and lens. But some visual defects are neural in nature, said Bevelier, author of the latest study on vision and video games.

Source:The Times Of India