Tag Archives: Brain tumor

Gorlin syndrome

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

Definition:
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

Incidence:
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.

Components:-
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.

Causes:-
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:
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.

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The minor criteria include the following:

1.macrocephaly.
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.

Treatment:
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.

Resources:
http://www.bbc.co.uk/health/physical_health/conditions/gorlinsyndrome1.shtml
http://en.wikipedia.org/wiki/Nevoid_basal_cell_carcinoma_syndrome
http://ghr.nlm.nih.gov/condition/gorlin-syndrome
http://dermnetnz.org/systemic/gorlins.html

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Brain Cancer

Animation of an MRI brain scan, starting at th...

Image via Wikipedia

Alternative Names:Glioma, Meningioma

Definition:
Brain cancer is a disease of the brain in which cancer cells (malignant) arise in the brain tissue. Cancer cells grow to form a mass of cancer tissue (tumor) that interferes with brain functions such as muscle control, sensation, memory, and other normal body functions.

 click & see the pictures

There are more than 100 different types of brain tumour, depending on which cells within the brain are involved. The most common (about 50 per cent of brain cancers) is called a glioma, and it is formed not from the nerve cells of the brain but from the glial cells, which support those nerves. The most aggressive form of glioma is known as a glioblastoma multiforme – these tumours form branches like a tree reaching out through the brain and may be impossible to completely remove.

Other tumours include:
*Meningiomas – account for about a quarter of brain cancers and are formed from cells in the membranes, or meninges, that cover the brain

*Pituitary adenomas – tumours of the hormone-producing pituitary gland

*Acoustic neuromas – typically slow-growing tumours of the hearing nerve often found in older people

*Craniopharyngioma and ependymomas – often found in younger people

The treatment and outlook for these different brain tumours varies hugely. Some, such as meningiomas and pituitary tumours, are usually (but not always) benign, which means they don’t spread through the brain or elsewhere in the body. However, they can still cause problems as they expand within the skull, compressing vital parts of the brain. Other types of brain cancer are malignant, spreading through the tissues and returning after treatment.

Brain tumours are also graded in terms of how aggressive, abnormal or fast-growing the cells are. Exactly where the tumour forms is also critical, as some areas of the brain are much easier to operate on than others, where important structures are packed closely together.

Causes:
The cause of brain cancer  remains a mystery, but some risk factors are known. These include:

*Age – different tumours tend to occur at different ages. About 300 children are diagnosed with brain tumours every year, and these are often a type called primitive neuroectodermal tumours (PNETs), which form from very basic cells left behind by the developing embryo. PNETs usually develop at the back of the brain in the cerebellum

*Genetics – as many as five per cent of brain tumours occur as part of an inherited condition, such as neurofibromatosis

*Exposure to ionising radiation – such as radiotherapy treatment at a young age

*Altered immunity – a weakened immunity has been linked to a type of tumour called a lymphoma, while autoimmune disease and allergy seem to slightly reduce the risk of brain tumours

*Environmental pollutants – many people worry that chemicals in the environment (such as from rubber, petrol and many manufacturing industries) can increase the risk of brain cancers, but research has so far failed to prove a link with any degree of certainty. Neither is there clear and irrefutable evidence for risk from mobile phones, electricity power lines or viral infections, although research is ongoing.

Symptoms:
The symptoms and signs of a brain tumour fall into two categories.

Those caused by damage or disruption of particular nerves or areas of the brain. Symptoms will depend on the location of the tumour and may include:

*Weakness or tremor of certain parts of the body

*Difficulty writing, drawing or walking

*Changes in vision or other senses

*Changes in mood, behaviour or mental abilities

Those caused by increased pressure within the skull – these are general to many types of tumour and may include:

*Headache (typically occurring on waking or getting up)

*Irritability

*Nausea and vomiting

*Seizures

*Drowsiness

*Coma

*Changes in your ability to talk, hear or see

*Problems with balance or walking

*Problems with thinking or memory

*Muscle jerking or twitching

*Numbness or tingling in arms or legs

Diagnosis:
The initial test is an interview that includes a medical history and physical examination of the person by a health-care provider.If he or she  suspects a brain tumour, you should be referred to a specialist within two weeks. Tests are likely to include blood tests and the most frequently used test to detect brain cancer is a CT scan (computerized tomography). This test resembles a series of X-rays and is not painful, although sometimes a dye needs to be injected into a vein for better images of some internal brain structures.

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Another test that is gaining popularity because of its high sensitivity for detecting anatomic changes in the brain is MRI (magnetic resonance imaging). This test also resembles a series of X-rays and shows the brain structures in detail better than CT. MRI is not as widely available as CT scanning. If the tests show evidence (tumors or abnormalities in the brain tissue) of brain cancer, then other doctors such as neurosurgeons and neurologists that specialize in treating brain ailments will be consulted to help determine what should be done to treat the patient. Occasionally, a tissue sample (biopsy) may be obtained by surgery or insertion of a needle to help determine the diagnosis. Other tests (white blood cell counts, electrolytes, or examination of cerebrospinal fluid to detect abnormal cells or increased intracranial pressure) may be ordered by the health-care practitioner to help determine the patient’s state of health or to detect other health problems.

Treatment:
The type of treatment offered and the likely response depends on the type, grade and location of the tumour. Unlike many other organs, it’s very difficult to remove parts of the brain without causing massive disruption to the control of body functions, so a cancer near a vital part of the brain may be particularly difficult to remove.

The main treatments for brain tumours include:

*Surgery – to remove all or part of the tumour, or to reduce pressure within the skull

*Radiotherapy – some brain cancers are sensitive to radiotherapy. Newer treatments (stereotactic radiotherapy and radiosurgery) carefully target maximum doses to small areas of the tumour, avoiding healthy brain tissue.

*Chemotherapy – these treatments are limited by the fact that many drugs cannot pass from the bloodstream into brain tissue because of the ‘blood-brain barrier’, but may be useful when tumours are difficult to operate on, or have advanced or returned.

*Biological’ therapies – for example, drugs that block the chemicals that stimulate growth of tumour cells

*Steroids – can help to reduce swelling of the brain and decrease pressure in the skull
Often a combination of treatments will be recommended.

While, as a general rule, brain tumours are difficult to treat and tend to have a limited response, it can be very misleading to give overall survival figures because some brain cancers are easily removed with little long term damage, while others are rapidly progressive and respond poorly to any treatment.

While only about 14 per cent of people diagnosed with a brain tumour are still alive more than five years later, this sombre statistic could be unnecessarily worrying for a person with a small benign brain tumour. What a person diagnosed with brain cancer needs to know will be the outlook for their individual situation, which only their own doctor can tell them.

Treatments do continue to improve – for example, survival rates for young children have doubled over the past few decades, and many new developments are being tested.

Other treatments may include hyperthermia (heat treatments), immunotherapy (immune cells directed to kill certain cancer cell types), or steroids to reduce inflammation and brain swelling. These may be added on to other treatment plans.

Clinical trials (treatment plans designed by scientists to try new chemicals or treatment methods on patients) can be another way for patients to obtain treatment specifically for their cancer cell type. Clinical trials are part of the research efforts to produce better treatments for all disease types. The best treatment for brain cancer is designed by the team of cancer specialists in conjunction with the wishes of the patient.

Prognosis:
Survival of treated brain cancer varies with the cancer type, location, and overall age and general health of the patient. In general, most treatment plans seldom result in a cure. Reports of survival greater that five years (which is considered to be long-term survival), vary from less than 10% to a high of 32%, no matter what treatment plan is used.

So, why use any treatment plan? Without treatment, brain cancers are usually aggressive and result in death within a short time span. Treatment plans can prolong survival and can improve the patient’s quality of life for some time. Again, the patient and caregivers should discuss the prognosis when deciding on treatment plans.

Living with Brain Cancer:
Discuss your concerns openly with your doctors and family members. It is common for brain cancer patients to be concerned about how they can continue to lead their lives as normally as possible; it is also common for them to become anxious, depressed, and angry. Most people cope better when they discuss their concerns and feelings. Although some patients can do this with friends and relatives, others find solace in support groups (people who have brain cancer and are willing to discuss their experiences with other patients) composed of people who have experienced similar situations and feelings. The patient’s treatment team of doctors should be able to connect patients with support groups. In addition, information about local support groups is available from the American Cancer Society at http://www.cancer.org/docroot/home/index.asp.

Prevention:
Although there is no way to prevent brain cancers, early diagnosis and treatment of tumors that tend to metastasize to the brain may reduce the risk of metastatic brain tumors. The following factors have been suggested as possible risk factors for primary brain tumors: radiation to the head, HIV infection, and environmental toxins. However, no one knows the exact causes that initiate brain cancer, especially primary brain cancer, so specific preventive measures are not known. Although Web sites and popular press articles suggest that macrobiotic diets, not using cell phones, and other methods will help prevent brain cancer, there is no reliable data to support these claims.

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.

 

Resources:
http://www.medicinenet.com/brain_cancer/page5.htm
http://www.nlm.nih.gov/medlineplus/braincancer.html
http://commons.wikimedia.org/wiki/File:MRI_head_side.jpg

New Warnings about the Hazards of Cell Phones

Holding a cell phone against your ear, or putting it in your pocket, may be hazardous to your health – or so says the fine print on a little slip that you probably tossed aside when unpacking your phone.
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Apple says your iPhone should come no closer than 5/8 of an inch; BlackBerry recommends about an inch.

Statistics show that, over all, there has not been a general increase in the incidence of brain cancer since cell phones arrived – but the average hides that fact that brain cancer has increased in the 20-to-29 age group while dropping for the older population.

According to the New York Times:

“The largest study of cell phone use and brain cancer has been the Interphone International Case Control Study … The authors included some disturbing data in an appendix available only online. These showed that subjects who used a cell phone 10 or more years doubled the risk of developing brain gliomas, a type of tumor.”

Meanwhile, the Wall Street Journal investigates various methods of cutting down the radiation your cell phone produces. However, they say the most effective one may be the simplest — keep the phone away from your head and body.

Resources:
New York Times November 13, 2010
Wall Street Journal, October 5, 2010
Good Health Nov 15 2010

Posted by: Dr. Mercola | November 29 2010

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Toomuch Use of Cell Phone May Cause Brain Cancer


An epidemiologist and toxicologist who is an expert in environmental health has found evidence linking cell phone usage to an increased rate of certain kinds of brain tumors in young people who were heavy cell phone users.


In her book, Disconnect, Dr. Devra Davis talks about how she found evidence of studies, some decades old, showing that the radio-frequency radiation used by cell phones could have biological effects — enough to damage DNA and potentially contribute to brain tumors.

As reported by Time, Davis also found that many of the studies debunking a link between cell phone usage and adverse events were mostly funded by the industry. According to Time:

“She found that other countries—like France and Israel—had already acted, discouraging the use of cell phones by children and even putting warning signs on handsets. …

“This is about the most important and unrecognized public health issues of our time,” says Davis. “We could avert a global catastrophe if we act.”

“Davis also said that industry resistance would make regulation “harder and harder,” but that the good news is “simply using a wired headset should significantly cut down on radiation exposure to the brain, although Davis recommends that children—whose thinner skulls can absorb higher levels of radiation—avoid using phones altogether.”

Source: Time.com September 27, 2010

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How Sunshine and Vitamin D Can Help You Eliminate Mercury

vitamin D, supplement, sunshine, sunlight, mercury, detoxAccumulating data have provided evidence that vitamin D is involved in brain function. Vitamin D can inhibit the synthesis of inducible nitric oxide synthase and increase glutathione levels, suggesting a role for the hormone in brain detoxification.

The study shows that vitamin D helps remove mercury from your body safely by radically increasing the amount of intracellular glutathione.

Neuroprotective and immunomodulatory effects of this hormone have also been described in several experimental models, indicating the potential value of vitamin D in helping neurodegenerative and neuroimmune diseases. In addition, vitamin D induces glioma cell death, making the hormone of potential interest in the management of brain tumors.

These results reveal previously unsuspected roles for vitamin D in brain function and suggest possible areas of future research.

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