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Ailmemts & Remedies

Achondroplasia

Definition:
Achondroplasia is a genetic (inherited) bone disorder that occurs in one in 25,000 live births. Achondroplasia is the most common type of dwarfism, in which the child’s arms and legs are short in proportion to body length. Further, the head is often large and the trunk is normal size. The average height of adult males with achondroplasia is 52 inches (or 4 feet, 4 inches). The average height of adult females with achondroplasia is 49 inches (or 4 feet, 1 inch).

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When a baby is developing in the womb, the skeleton first forms out of cartilage, which then this develops into bone (except in certain areas such as the nose or ears where cartilage remains).

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In achondroplasia, this process doesn’t happen as it should, especially in the long bones of the arms and legs. Instead, the cartilage cells in the growth plates turn only very slowly into bone.


Symptoms:
The following are the most common symptoms of achondroplasia. However, each child may experience symptoms differently. Symptoms may include:

*shortened arms and legs, with the upper arms and thighs more shortened than the forearms and lower legs

*large head size with prominent forehead and a flattened nasal bridge

*crowded or misaligned teeth

*curved lower spine – a condition also called lordosis (or “sway-back”) which may lead to kyphosis, or the development of a small hump near the shoulders that usually goes away after the child begins walking.

*small vertebral canals (back bones) – may lead to spinal cord compression in adolescence. Occasionally children with achondroplasia may die suddenly in infancy or early childhood in their sleep due to compression of the upper end of the spinal cord, which interferes with breathing.

*bowed lower legs

*flat feet that are short and broad

*extra space between the middle and ring fingers (Also called a trident hand.)

*poor muscle tone and loose joints

*frequent middle ear infections which may lead to hearing loss

*normal intelligence

*delayed developmental milestones such as walking (which may occur between 18 to 24 months instead of around one year of age)

These bone abnormalities can lead to a range of health problems, as well as psychological trauma caused by the stigma of looking different from the crowd. Most children with achondroplasia have normal intelligence.

Babies with achondroplasia may have poor muscle tone and be slow to stand and walk. Spinal problems can develop, and the lower part of the legs may become bowed. There may be dental problems because teeth are often crowded and poorly aligned. Middle ear infections occur frequently and can cause mild to moderate hearing loss.

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Causes:
Achondroplasia is inherited by an autosomal dominant gene that causes abnormal cartilage formation. Autosomal dominant inheritance means that the gene is located on one of the autosomes (chromosome pairs 1 through 22). This means that males and females are equally affected. Dominant means that only one gene is necessary to have the trait. When a parent has a dominant trait, there is a 50 percent chance that any child they have will also inherit the trait. So, in some cases, the child inherits the achondroplasia from a parent with achondroplasia. The majority of achondroplasia cases (80 percent), however, are the result of a new mutation in the family – the parents are of average height and do not have the abnormal gene.

As mentioned, persons with achondroplasia have a 50 percent chance to pass the gene to a child, resulting in the condition. If both parents have achondroplasia, with each pregnancy, there is a 50 percent chance to have a child with achondroplasia, a 25 percent chance that the child will not inherit the gene and be of average height, and a 25 percent chance that the child will inherit one abnormal gene from each parent, which can lead to severe skeletal problems that often result in early death.

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Geneticists have found that fathers who are older than 45 have a higher chance of having children with certain autosomal dominant conditions such as achondroplasia, but no cause for the new mutations in sperm has been discovered at this time.

The gene responsible for achondroplasia was discovered in 1994 making accurate prenatal diagnosis available, in most cases.

There are two other syndromes with a genetic basis similar to achondroplasia: hypochondroplasia and thanatophoric dysplasia.

In approximately 75 per cent of cases the problem results from a new mutation of a gene (that is, neither parent carries the faulty gene), but in some cases a child inherits achondroplasia from a parent who also has the condition. There is also a link with older fathers, over the age of 40.

Diagnosis:
Achondroplasia can be diagnosed before birth by fetal ultrasound or after birth by complete medical history and physical examination. DNA testing is now available before birth to confirm fetal ultrasound findings for parents who are at increased risk for having a child with achondroplasia.A DNA test can be performed before birth to detect homozygosity, wherein two copies of the mutant gene are inherited, a lethal condition leading to stillbirths.
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Radiologic findings:
A skeletal survey is useful to confirm the diagnosis of achondroplasia. The skull is large, with a narrow foramen magnum, and relatively small skull base. The vertebral bodies are short and flattened with relatively large intervertebral disk height, and there is congenitally narrowed spinal canal. The iliac wings are small and squared,[4] with a narrow sciatic notch and horizontal acetabular roof. The tubular bones are short and thick with metaphyseal cupping and flaring and irregular growth plates. Fibular overgrowth is present. The hand is broad with short metacarpals and phalanges, and a trident configuration. The ribs are short with cupped anterior ends. If the radiographic features are not classic, a search for a different diagnosis should be entertained. Because of the extremely deformed bone structure, people with achondroplasia are often double jointed.

The diagnosis can be made by fetal ultrasound by progressive discordance between the femur length and biparietal diameter by age. The trident hand configuration can be seen if the fingers are fully extended.

Another distinct characteristic of the syndrome is thoracolumbar gibbus in infancy.


Treatment :
Currently, there is no way to prevent or treat achondroplasia, since the majority of cases result from unexpected new mutations. Treatment with growth hormone does not substantially affect the height of an individual with achondroplasia. Leg-lengthening surgeries may be considered in some very specialized cases.

Detection of bone abnormalities, particularly in the back, are important to prevent breathing difficulties and leg pain or loss of function. Kyphosis (or hunch-back) may need to be surgically corrected if it does not disappear when the child begins walking. Surgery may also help bowing of the legs. Ear infections need to be treated immediately to avoid the risk of hearing loss. Dental problems may need to be addressed by an orthodontist (dentist with special training in the alignment of teeth).

There is research into the family of genes called fibroblast growth factors, in which the gene that causes achondroplasia is included. The goal is to understand how the faulty gene causes the features seen in achondroplasia, in order to lead to improved treatment. These genes have been linked to many heritable skeletal disorders.

However, if desired, the controversial surgery of limb-lengthening will lengthen the legs and arms of someone with achondroplasia.

Usually, the best results appear within the first and second year of therapy.  After the second year of GH therapy, beneficial bone growth decreases. Therefore, GH therapy is not a satisfactory long term treatment.

Prognosis:
People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range. Infants who receives the abnormal gene from both parents do not often live beyond a few months.

Complications:
* Clubbed feet
* Fluid build up in the brain (hydrocephalus)

Epidemiology:
Achondroplasia and is one of several congenital conditions with similar presentations, such as osteogenesis imperfecta, multiple epiphyseal dysplasia tarda, achondrogenesis, osteopetrosis, and thanatophoric dysplasia. This makes estimates of prevalence difficult, with changing and subjective diagnostic criteria over time. One detailed and long-running study in the Netherlands found that the prevalence determined at birth was only 1.3 per 100,000 live births.  However, another study at the same time found a rate of 1 per 10,000.


Prevention:
Genetic counseling may be helpful for prospective parents when one or both have achondroplasia. However, because achondroplasia most often develops spontaneously, prevention is not always possible.

* Reviewed last on: 11/2/2009
* Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

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.yalemedicalgroup.org/stw/Page.asp?PageID=STW026342
http://en.wikipedia.org/wiki/Achondroplasia
http://www.bbc.co.uk/health/physical_health/conditions/achondroplasia1.shtml
http://www.umm.edu/ency/article/001577all.htm

http://wikis.lib.ncsu.edu/index.php/Group_6_HYALOS_(hyaline_cartilage)

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Bone Marrow ‘Cures AIDS Patient’

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A bone marrow transplant using stem cells from a donor with natural genetic resistance to the AIDS virus has left an HIV patient free of infection for nearly two years, German researchers.

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The patient, an American living in Berlin, was infected with the human immunodeficiency virus that causes AIDS and also had leukemia.

The best treatment for the leukemia was a bone marrow transplant, which takes the stem cells from a healthy donor’s immune system to replace the patient’s cancer-ridden cells.

Dr Gero Hutter and Thomas Schneider of the Clinic for Gastroenterology, Infections and Rheumatology of the Berlin Charite hospital said on Wednesday the team sought a bone marrow donor who had a genetic mutation known to help the body resist AIDS infection.

The mutation affects a receptor, a cellular doorway, called CCR5 that the AIDS virus uses to get into the cells it infects.

When they found a donor with the mutation, they used that bone marrow to treat the patient. Not only did the leukemia disappear, but so did the HIV.

“As of today, more than 20 months after the successful transplant, no HIV can be detected in the patient,” the clinic said in a statement. “We performed all tests, not only with blood but also with other reservoirs,” Schneider told a news conference. “But we cannot exclude the possibility that it’s still there.”

The researchers stressed that this would never become a standard treatment for HIV. Bone marrow stem cell transplants are rigorous and dangerous and require the patient to first have his or her own bone marrow completely destroyed.

Patients risk death from even the most minor infections because they have no immune system until the stem cells can grow and replace their own.

HIV has no cure and is always fatal. Cocktails of drugs can keep the virus suppressed, sometimes to undetectable levels. But research shows the virus never disappears — it lurks in so-called reservoirs throughout the body.

Hutter’s team said they have been unable to find any trace of the virus in their 42-year-old patient, who remains unnamed, but that does not mean it is not there. “The virus is tricky. It can always return,” Hutter said.

The CCR5 mutation is found in about 3% of Europeans, the researchers said. They said the study suggests that gene therapy, a highly experimental technology, might someday be used to help treat patients with HIV.

Sources: The Times Of India

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Leukemia

Definition:

Leukemia or leukaemia (Greek leukos “white”; aima “blood”) is a cancer of the blood or bone marrow and is characterized by an abnormal proliferation (production by multiplication) of blood cells, usually white blood cells (leukocytes). Leukemia is a broad term covering a spectrum of diseases. In turn, it is part of the even broader group of diseases called hematological neoplasms.
Leukemia is a type of cancer. Cancer is a group of many related diseases. All cancers begin in cells, which make up blood and other tissues. Normally, cells grow and divide to form new cells as the body needs them. When cells grow old, they die, and new cells take their place.

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Sometimes this orderly process goes wrong. New cells form when the body does not need them, and old cells do not die when they should. Leukemia is cancer that begins in blood cells.

Leukemia is a malignant cancer of the blood and bone marrow that affects thousands of children and adults. Acute leukemia progresses quickly while chronic leukemia develops more slowly.

The immune system protects the body from potentially harmful substances. The inflammatory response (inflammation) is part of innate immunity. It occurs when tissues are injured by bacteria, trauma, toxins, heat or any other cause.

Normal blood cells

Blood cells form in the bone marrow. Bone marrow is the soft material in the center of most bones.

Immature blood cells are called stem cells and blasts. Most blood cells mature in the bone marrow and then move into the blood vessels. Blood that flows through the blood vessels and heart is called the peripheral blood.

The bone marrow makes different types of blood cells. Each type has a special function:

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White Blood Cell…..Red Blood Cell……. Platelets for blood cloting…………..Leukemia

Leukemia cells:-
In people with leukemia, the bone marrow produces abnormal white blood cells. The abnormal cells are leukemia cells. At first, leukemia cells function almost normally. In time, they may crowd out normal white blood cells, red blood cells, and platelets. This makes it hard for blood to do its work.

Types Of Leukemia:-
The types of leukemia are grouped by how quickly the disease develops and gets worse. Leukemia is either chronic (gets worse slowly) or acute (gets worse quickly):

Chronic leukemia—Early in the disease, the abnormal blood cells can still do their work, and people with chronic leukemia may not have any symptoms. Slowly, chronic leukemia gets worse. It causes symptoms as the number of leukemia cells in the blood rises.

Acute leukemia—The blood cells are very abnormal. They cannot carry out their normal work. The number of abnormal cells increases rapidly. Acute leukemia worsens quickly.
The types of leukemia are also grouped by the type of white blood cell that is affected. Leukemia can arise in lymphoid cells or myeloid cells. Leukemia that affects lymphoid cells is called lymphocytic leukemia. Leukemia that affects myeloid cells is called myeloid leukemia or myelogenous leukemia.

There are four common types of leukemia:

1.Chronic lymphocytic leukemia (chronic lymphoblastic leukemia, CLL) accounts for about 7,000 new cases of leukemia each year. Most often, people diagnosed with the disease are over age 55. It almost never affects children.

2.Chronic myeloid leukemia (chronic myelogenous leukemia, CML) accounts for about 4,400 new cases of leukemia each year. It affects mainly adults.

3.Acute lymphocytic leukemia (acute lymphoblastic leukemia, ALL) accounts for about 3,800 new cases of leukemia each year. It is the most common type of leukemia in young children. It also affects adults.

4.Acute myeloid leukemia (acute myelogenous leukemia, AML) accounts for about 10,600 new cases of leukemia each year. It occurs in both adults and children.

Hairy cell leukemia is a rare type of chronic leukemia. This booklet does not deal with hairy cell leukemia or other rare types of leukemia. Together, these rare leukemias account for about 5,200 new cases of leukemia each year. The Cancer Information Service (1-800-4-CANCER) can provide information about these types of leukemia.

Causes:
No one knows the exact causes of leukemia. Doctors can seldom explain why one person gets this disease and another does not. However, research has shown that people with certain risk factors are more likely than others to develop leukemia. A risk factor is anything that increases a person’s chance of developing a disease.

Studies have found the following risk factors for leukemia:

Very high levels of radiation —People exposed to very high levels of radiation are much more likely than others to develop leukemia. Very high levels of radiation have been caused by atomic bomb explosions (such as those in Japan during World War II) and nuclear power plant accidents (such as the Chernobyl [also called Chornobyl] accident in 1986).
Medical treatment that uses radiation can be another source of high-level exposure. Radiation used for diagnosis, however, exposes people to much lower levels of radiation and is not linked to leukemia.

Working with certain chemicals—Exposure to high levels of benzene in the workplace can cause leukemia. Benzene is used widely in the chemical industry. Formaldehyde is also used by the chemical industry. Workers exposed to formaldehyde also may be at greater risk of leukemia.
*Chemotherapy—Cancer patients treated with certain cancer-fighting drugs sometimes later develop leukemia. For example, drugs known as alkylating agents are associated with the development of leukemia many years later.
*Down syndrome and certain other genetic diseases—Some diseases caused by abnormal chromosomes may increase the risk of leukemia.
*Human T-cell leukemia virus-I (HTLV-I)—This virus causes a rare type of chronic lymphocytic leukemia known as human T-cell leukemia. However, leukemia does not appear to be contagious.
*Myelodysplastic syndrome—People with this blood disease are at increased risk of developing acute myeloid leukemia.

Symptoms:-
Like all blood cells, leukemia cells travel through the body. Depending on the number of abnormal cells and where these cells collect, patients with leukemia may have a number of symptoms.

Common symptoms of leukemia:

*Fevers or night sweats
*Frequent infections
*Feeling weak or tired
*Headache
*Bleeding and bruising easily (bleeding gums, purplish patches in the skin, or tiny red spots under the skin)
*Pain in the bones or joints
*Swelling or discomfort in the abdomen (from an enlarged spleen)
*Swollen lymph nodes, especially in the neck or armpit
*Weight loss
Such symptoms are not sure signs of leukemia. An infection or another problem also could cause these symptoms. Anyone with these symptoms should see a doctor as soon as possible. Only a doctor can diagnose and treat the problem.

In the early stages of chronic leukemia, the leukemia cells function almost normally. Symptoms may not appear for a long time. Doctors often find chronic leukemia during a routine checkup—before there are any symptoms. When symptoms do appear, they generally are mild at first and get worse gradually.

In acute leukemia, symptoms appear and get worse quickly. People with this disease go to their doctor because they feel sick. Other symptoms of acute leukemia are vomiting, confusion, loss of muscle control, and seizures. Leukemia cells also can collect in the testicles and cause swelling. Also, some patients develop sores in the eyes or on the skin. Leukemia also can affect the digestive tract, kidneys, lungs, or other parts of the body.
Click to see :->Tips to know the symptoms of Leukemia

Diagnisis:
If a person has symptoms that suggest leukemia, the doctor may do a physical exam and ask about the patient’s personal and family medical history. The doctor also may order laboratory tests, especially blood tests.

The exams and tests may include the following:

*Physical exam—The doctor checks for swelling of the lymph nodes, spleen, and liver.

*Blood tests—The lab checks the level of blood cells. Leukemia causes a very high level of white blood cells. It also causes low levels of platelets and hemoglobin, which is found inside red blood cells. The lab also may check the blood for signs that leukemia has affected the liver and kidneys.

*Biopsy—The doctor removes some bone marrow from the hipbone or another large bone. A pathologist examines the sample under a microscope. The removal of tissue to look for cancer cells is called a biopsy. A biopsy is the only sure way to know whether leukemia cells are in the bone marrow.
There are two ways the doctor can obtain bone marrow. Some patients will have both procedures:

*Bone marrow aspiration: The doctor uses a needle to remove samples of bone marrow.

*Bone marrow biopsy: The doctor uses a very thick needle to remove a small piece of bone and bone marrow.
Local anesthesia helps to make the patient more comfortable.

*Cytogenetics—The lab looks at the chromosomes of cells from samples of peripheral blood, bone marrow, or lymph nodes.

*Spinal tap—The doctor removes some of the cerebrospinal fluid (the fluid that fills the spaces in and around the brain and spinal cord). The doctor uses a long, thin needle to remove fluid from the spinal column. The procedure takes about 30 minutes and is performed with local anesthesia. The patient must lie flat for several hours afterward to keep from getting a headache. The lab checks the fluid for leukemia cells or other signs of problems.

Chest x-ray—The x-ray can reveal signs of disease in the chest.

A person who needs a bone marrow aspiration or bone marrow biopsy may want to ask the doctor the following questions:-

*Will you remove the sample of bone marrow from the hip or from another bone?
*How long will the procedure take? Will I be awake? Will it hurt?
*How soon will you have the results? Who will explain them to me?
*If I do have leukemia, who will talk to me about treatment? When?

Treatment:-
Many people with leukemia want to take an active part in making decisions about their medical care. They want to learn all they can about their disease and their treatment choices. However, the shock and stress after a diagnosis of cancer can make it hard to think of everything to ask the doctor. Often it helps to make a list of questions before an appointment. To help remember what the doctor says, patients may take notes or ask whether they may use a tape recorder. Some also want to have a family member or friend with them when they talk to the doctor—to take part in the discussion, to take notes, or just to listen.

The doctor may refer patients to doctors who specialize in treating leukemia, or patients may ask for a referral. Specialists who treat leukemia include hematologists, medical oncologists, and radiation oncologists. Pediatric oncologists and hematologists treat childhood leukemia.

Whenever possible, patients should be treated at a medical center that has doctors experienced in treating leukemia. If this is not possible, the patient’s doctor may discuss the treatment plan with a specialist at such a center.

Getting a second opinion
Sometimes it is helpful to have a second opinion about the diagnosis and the treatment plan. Some insurance companies require a second opinion; others may cover a second opinion if the patient or doctor requests it. There are a number of ways to find a doctor for a second opinion:

The patient’s doctor may be able to suggest a doctor who specializes in adult or childhood leukemia. At cancer centers, several specialists often work together as a team.
The Cancer Information Service, at 1-800-4-CANCER, can tell callers about nearby treatment centers.
A local or state medical society, a nearby hospital, or a medical school can usually provide the names of specialists.

The American Board of Medical Specialties (ABMS) has a list of doctors who have met certain education and training requirements and have passed specialty examinations. The Official ABMS Directory of Board Certified Medical Specialists lists doctors’ names along with their specialty and their educational background. The directory is available in most public libraries. Also, ABMS offers this information on the Internet .
Preparing for treatment

The doctor can describe treatment choices and discuss the results expected with each treatment option. The doctor and patient can work together to develop a treatment plan that fits the patient’s needs.

Treatment depends on a number of factors, including the type of leukemia, the patient’s age, whether leukemia cells are present in the cerebrospinal fluid, and whether the leukemia has been treated before. It also may depend on certain features of the leukemia cells. The doctor also takes into consideration the patient’s symptoms and general health.

These are some questions a person may want to ask the doctor before treatment begins:
*What type of leukemia do I have?
*What are my treatment choices? Which do you recommend for me? Why?
*What are the benefits of each kind of treatment?
*What are the risks and possible side effects of each treatment?
*If I have pain, how will you help me?
*What is the treatment likely to cost?
*How will treatment affect my normal activities?
*Would a clinical trial (research study) be appropriate for me? Can you help me find one?

People do not need to ask all of their questions or understand all of the answers at one time. They will have other chances to ask the doctor to explain things that are not clear and to ask for more information.

Methods of treatment:-
The doctor is the best person to describe the treatment choices and discuss the expected results. Depending on the type and extent of the disease, patients may have chemotherapy, biological therapy, radiation therapy, or bone marrow transplantation. If the patient’s spleen is enlarged, the doctor may suggest surgery to remove it. Some patients receive a combination of treatments.

People with acute leukemia need to be treated right away. The goal of treatment is to bring about a remission. Then, when signs and symptoms disappear, more therapy may be given to prevent a relapse. This type of therapy is called maintenance therapy. Many people with acute leukemia can be cured.

Chronic leukemia patients who do not have symptoms may not require immediate treatment. The doctor may suggest watchful waiting for some patients with chronic lymphocytic leukemia. The health care team will monitor the patient’s health so that treatment can begin if symptoms occur or worsen. When treatment for chronic leukemia is needed, it can often control the disease and its symptoms. However, chronic leukemia can seldom be cured. Patients may receive maintenance therapy to help keep the cancer in remission.

A patient may want to talk to the doctor about taking part in a clinical trial, a research study of new treatment methods. The section on “The Promise of Cancer Research” has more information about clinical trials.

In addition to anticancer therapy, people with leukemia may have treatment to control pain and other symptoms of the cancer, to relieve the side effects of therapy, or to ease emotional problems. This kind of treatment is called symptom management, supportive care, or palliative care.

Chemotherapy
Most patients with leukemia receive chemotherapy. This type of cancer treatment uses drugs to kill leukemia cells. Depending on the type of leukemia, the patient may receive a single drug or a combination of two or more drugs.

People with leukemia may receive chemotherapy in several different ways:

*By mouth
*By injection directly into a vein (IV or intravenous)

*Through a catheter (a thin, flexible tube) placed in a large vein, often in the upper chest—A catheter that stays in place is useful for patients who need many IV treatments. The health care professional injects drugs into the catheter, rather than directly into a vein. This method avoids the need for many injections, which can cause discomfort and injure the veins and skin.

*By injection directly into the cerebrospinal fluid—If the pathologist finds leukemia cells in the fluid that fills the spaces in and around the brain and spinal cord, the doctor may order intrathecal chemotherapy. The doctor injects drugs directly into the cerebrospinal fluid. This method is used because drugs given by IV injection or taken by mouth often do not reach cells in the brain and spinal cord. (A network of blood vessels filters blood going to the brain and spinal cord. This blood-brain barrier stops drugs from reaching the brain.)
The patient may receive the drugs in two ways:

*Injection into the spine: The doctor injects the drugs into the lower part of the spinal column.

*Ommaya reservoir: Children and some adult patients receive intrathecal chemotherapy through a special catheter called an Ommaya reservoir. The doctor places the catheter under the scalp. The doctor injects the anticancer drugs into the catheter. This method avoids the discomfort of injections into the spine.
Patients receive chemotherapy in cycles: a treatment period, then a recovery period, and then another treatment period. In some cases, the patient has chemotherapy as an outpatient at the hospital, at the doctor’s office, or at home. However, depending on which drugs are given, and the patient’s general health, a hospital stay may be necessary.

Some people with chronic myeloid leukemia receive a new type of treatment called targeted therapy. Targeted therapy blocks the production of leukemia cells but does not harm normal cells. Gleevec, also called STI-571, is the first targeted therapy approved for chronic myeloid leukemia.

*Biological therapy
People with some types of leukemia have biological therapy. This type of treatment improves the body’s natural defenses against cancer. The therapy is given by injection into a vein.

For some patients with chronic lymphocytic leukemia, the type of biological therapy used is a monoclonal antibody. This substance binds to the leukemia cells. This therapy enables the immune system to kill leukemia cells in the blood and bone marrow.

For some patients with chronic myeloid leukemia, the biological therapy is a natural substance called interferon. This substance can slow the growth of leukemia cells.

Patients may want to ask these questions about chemotherapy or biological therapy:-
*Why do I need this treatment?
*What drugs will I get?
*Should I see my dentist before treatment begins?
*What will the treatment do?
*Will I have to stay in the hospital?
*How will we know the drugs are working?
*How long will I be on this treatment?
*Will I have side effects during treatment? How long will they last? What can I do about them?
*Can these drugs cause side effects later on?
*How often will I need checkups?

Radiation therapy
Radiation therapy (also called radiotherapy) uses high-energy rays to kill leukemia cells. For most patients, a large machine directs radiation at the spleen, the brain, or other parts of the body where leukemia cells have collected. Some patients receive radiation that is directed to the whole body. (Total-body irradiation usually is given before a bone marrow transplant.) Patients receive radiation therapy at a hospital or clinic.

These are some questions a person may want to ask the doctor before having radiation therapy:-
*Why do I need this treatment?
*When will the treatments begin? How often will they be given? When will they end?
*How will I feel during therapy? Will there be side effects? How long will they last? What can we do about them?
*Can radiation therapy cause side effects later on?
*What can I do to take care of myself during therapy?
*How will we know if the radiation is working?
*Will I be able to continue my normal activities during treatment?
*How often will I need checkups?

Stem cell transplantation:-

Some patients with leukemia have stem cell transplantation. A stem cell transplant allows a patient to be treated with high doses of drugs, radiation, or both. The high doses destroy both leukemia cells and normal blood cells in the bone marrow. Later, the patient receives healthy stem cells through a flexible tube that is placed in a large vein in the neck or chest area. New blood cells develop from the transplanted stem cells.

There are several types of stem cell transplantation:-

*Bone marrow transplantation—The stem cells come from bone marrow.

*Peripheral stem cell transplantation—The stem cells come from peripheral blood.

*Umbilical cord blood transplantation—For a child with no donor, the doctor may use stem cells from umbilical cord blood. The umbilical cord blood is from a newborn baby. Sometimes umbilical cord blood is frozen for use later.
Stem cells may come from the patient or from a donor: –

*Autologous stem cell transplantation—This type of transplant uses the patient’s own stem cells. The stem cells are removed from the patient, and the cells may be treated to kill any leukemia cells present. The stem cells are frozen and stored. After the patient receives high-dose chemotherapy or radiation therapy, the stored stem cells are thawed and returned to the patient.

*Allogeneic stem cell transplantation—This type of transplant uses healthy stem cells from a donor. The patient’s brother, sister, or parent may be the donor. Sometimes the stem cells come from an unrelated donor. Doctors use blood tests to be sure the donor’s cells match the patient’s cells.

*Syngeneic stem cell transplantation—This type of transplant uses stem cells from the patient’s healthy identical twin.
After a stem cell transplant, patients usually stay in the hospital for several weeks. The health care team protects patients from infection until the transplanted stem cells begin to produce enough white blood cells.

These are some questions a person may want to ask the doctor before having a stem cell transplant:-
*What kind of stem cell transplant will I have? If I need a donor, how will we find one?
*How long will I be in the hospital? What care will I need when I leave the hospital?
*How will we know if the treatment is working?
*What are the risks and the side effects? What can we do about them?
*What changes in normal activities will be necessary?
*What is my chance of a full recovery? How long will that take?
*How often will I need checkups?

Click to see the side effect of Leukemia treatment

Click to see :->Leukemia and Treatment options for leukemia by type

What happens after treatment for leukemia.

What does the future hold for patients with leukemia.

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/leukemia/article.htm
http://www.nortonhealthcare.com/specialties/cancer/leukemia/leukemia.aspx

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Decoding Diseases

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The 1000 Genome Project promises to provide genetic clues to all the major ailments plaguing humankind.

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For a long time in the history of science, scientists had relied on tact and finesse in their investigations into Nature. They designed ingenious experiments and constructed exquisite theories to probe into Nature’s patterns. But some of them are now combining finesse with brute force, and in the process uncovering some of Nature’s most profound mysteries.

At the Wellcome Trust Sanger Institute in Cambridge in the United Kingdom, biologists are using brute force like never before in the history of biology. They are sequencing genomes (the full complement of genes in a person) at breakneck speed: about 300 million bases of DNA an hour, seven billion a day, 50 billion a week. In the last six months, scientists there have sequenced more than one trillion letters of genetic code. That is the equivalent of 300 human genomes. Every two minutes, the institute generates as much sequence as was done in the first five years of genome mapping (from 1982-1987).

While sequencing at such a speed, which will itself keep going up each year, biologists are getting closer to answering some critical questions. At a fundamental and philosophical level, it will tell us why we are all so similar and yet so different. At a more practical level, it will tell us why some of us get sick while others don’t. Or to be precise, we will soon know how genetic variation contributes to disease. Says Richard Durbin, co-leader of the three-year 1000 Genome Project that the Institute launched with two other institutions: “At the end of the project, we will have a much clearer picture of what the human genome really looks like.”

The first draft of the human genome, produced by US and UK scientists in 2000, was a major breakthrough in biology. However, there were many gaps in the draft that have still not been plugged. It turns out that the gaps contain the crucial data that we need to understand health and disease. Moreover, the draft was based only on primary data. It is the secondary data, the variations in the reference sequence, which will tell us about risk factors for diseases. That is what biologists are after now.

The 1000 Genome Project was launched in January this year with the aim of producing a map of the human genome that is medically relevant. There are three institutions in the project: the Wellcome Trust Sanger Institute, the Beijing Genomics Institute at Shenzen in China, and the National Human Genome Research Institute at Bethesda, Maryland, in the US. Later, three US based companies — 454 Life Sciences, Illumina and Applied Biosystems — joined the project by providing sequencing equipment. This sequencing equipment has been developed recently and has not been tested in actual research. It has provided what biologists there call the next generation sequencing technology.

The power of this technology was unimaginable even two years ago. At that time the institute had 75 machines and could sequence 50 billion bases a year. Now it has 25 machines and can sequence 50 billion bases a week. “We had a major shift in technology last year,” says Harold Swerdlow, head of sequencing technology at the Wellcome Trust Sanger Institute. “The speed of sequencing has gone up 100 times and the cost has gone down by 100 times.”

Without this improvement in technology, the 1000 Genome Project may not have been possible or would have taken too long. As the plans stand now, the first year is for a pilot project. It will do two things: learning to work with the technology, and test the technology itself. Scientists in the project are now sequencing the DNA of 180 people in three equal sets of 60: people of European origin (the sample came from Utah in the US), Africans (sample from Nigeria) and East Asians (sample from China and Japan). The sequencing is at a low depth, a term biologists use to denote the number of times they sequence a gene and thus its accuracy. By the end of the project, they would have sequenced 1000 genomes at an accuracy unavailable so far. They would have had to sequence a genome at least about 40 times to reach this stage.

Maps of genetic variation that exist now are called HapMap. The scientists already have about 130 places of genetic variation that can increase the risk of diabetes, breast cancer, arthritis, inflammatory bowel disease and so on. However, this map identifies variations at a frequency of 5 per cent or more. The 1000 Genome Project will identify gene variations at a frequency of 1 per cent or even less. It will then open up possibilities of developing markers and treatment for a large number of diseases. Says Sameer Brahmachari, a biologist and director general of the Council of Scientific and Industrial Research, New Delhi: “If the physical traits of the sequenced individuals are studied and correlated with their genome, the 1000 genome sequence can be an invaluable resource.”

Sources: The Telegraph (Kolkata, India)

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Ailmemts & Remedies

Thalassemia

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Thalassemia (British spelling, “thalassaemia”) is an inherited autosomal recessive blood disease. In thalassemia, the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains causes the formation of abnormal hemoglobin molecules, and this in turn causes the anemia which is the characteristic presenting symptom of the thalassemias.

Thalassemia is not synonymous with hemoglobinopathies, like sickle-cell disease. Thalassemias result in under production of globin proteins, often through mutations in regulatory genes. Hemoglobinopathies imply structural abnormalities in the globin proteins themselves . The two conditions may overlap, however, since some conditions which cause abnormalities in globin proteins (hemoglobinopathy) also affect their production (thalassemia). Either or both of these conditions may cause anemia.

The disease is particularly prevalent among Mediterranean peoples, and this geographical association was responsible for its naming: Thalassa (θάλασσα) is Greek for the sea, Haema (αίμα) is Greek for blood.

There is no cure for thalassemias, and the best treatment available today consists of frequent blood transfusions (every two to three weeks) with iron chelation therapy (e.g. deferoxamine) administered subcutaneously. Bone marrow transplants (hematopoietic stem cell transplantations) and cord blood transplantation with pre-operative myeloablation are potentially curative, though the latter requires further investigation.

Prevalence
Generally, thalassemias are prevalent in populations that evolved in humid climates where malaria was endemic, but effects all races. Thalassemias are particularly associated with Arab-Americans, people of Mediterranean origin, and Asians. The estimated prevalence is 16% in people from Cyprus, 3-14% in Thailand, and 3-8% in populations from India, Pakistan, Bangladesh, and China. There are also prevalences in descendants of people from Latin America, and Mediterranean countries (e.g. Spain, Portugal, Italy, Greece and others). A very low prevalence has been reported from black people in Africa (0.9%), with those in northern Africa having the highest prevalence and northern Europe (0.1%).

Pathophysiology
The thalassemias are classified according to which chain of the hemoglobin molecule is affected (see hemoglobin for a description of the chains). In α thalassemias, production of the α globin chain is affected, while in β thalassemia production of the β globin chain is affected.

Thalassemia produces a deficiency of α or β globin, unlike sickle-cell disease which produces a specific mutant form of β globin.

β globin chains are encoded by a single gene on chromosome 11; α globin chains are encoded by two closely linked genes on chromosome 16. Thus in a normal person with two copies of each chromosome, there are two loci encoding the β chain, and four loci encoding the α chain.

Deletion of one of the α loci has a high prevalence in people of African-American or Asian descent, making them more likely to develop α thalassemias. β thalassemias are common in African-Americans, but also in Greeks and Italians.

Alpha (α) thalassemias
The α thalassemias involve the genes HBA1 (Mendelian Inheritance in Man (OMIM) 141800) and HBA2 (Mendelian Inheritance in Man (OMIM) 141850), inherited in a Mendelian recessive fashion. It is also connected to the deletion of the 16p chromosome. α thalassemias result in decreased alpha-globin production, therefore fewer alpha-globin chains are produced, resulting in an excess of β chains in adults and excess γ chains in newborns. The excess β chains form unstable tetramers (called Hemoglobin H or HbH) which have abnormal oxygen dissociation curves.

There are four genetic loci for α globin, two of which are maternal in origin and two of which are paternal in origin. The severity of the α thalassemias is correlated with the number of affected α globin loci: the greater the number of affected loci, the more severe will be the manifestations of the disease.

If one of the four α loci is affected, there is minimal effect. Three α-globin loci are enough to permit normal hemoglobin production, and there is no anemia or hypochromia in these people. They have been called silent carriers.
If two of the four α loci are affected, the condition is called alpha thalassemia trait. Two α loci permit nearly normal erythropoiesis, but there is a mild microcytic hypochromic anemia. The disease in this form can be mistaken for iron deficiency anemia and treated inappropriately with iron. Alpha thalassemia trait can exist in two forms: one form, associated with Asians, involves cis deletion of two alpha loci on the same chromosome; the other, associated with African-Americans, involves trans deletion of alpha loci on different (homologous) chromosomes.
If three loci are affected, the condition is called Hemoglobin H disease. Two unstable hemoglobins are present in the blood: Hemoglobin Barts (tetrameric γ chains) and Hemoglobin H (tetrameric β chains). Both of these unstable hemoglobins have a higher affinity for oxygen than normal hemoglobin, resulting in poor oxygen delivery to tissues. There is a microcytic hypochromic anemia with target cells and Heinz bodies (precipitated HbH) on the peripheral blood smear, as well as splenomegaly. The disease may first be noticed in childhood or in early adult life, when the anemia and splenomegaly are noted.
If all four loci are affected, the fetus cannot live once outside the uterus and may not survive gestation: most such infants are dead at birth with hydrops fetalis, and those who are born alive die shortly after birth. They are edematous and have little circulating hemoglobin, and the hemoglobin that is present is all tetrameric γ chains (hemoglobin Barts).

Beta (β) thalassemias
Beta thalassemias are due to mutations in the HBB gene on chromosome 11 (Mendelian Inheritance in Man (OMIM) 141900), also inherited in an autosomal-recessive fashion. The severity of the disease depends on the nature of the mutation. Mutations are characterized as (βo) if they prevent any formation of β chains; they are characterized as (β+) if they allow some β chain formation to occur. In either case there is a relative excess of α chains, but these do not form tetramers: rather, they bind to the red blood cell membranes, producing membrane damage, and at high concentrations they form toxic aggregates.

Any given individual has two β globin alleles.

If only one β globin allele bears a mutation, the disease is called β thalassemia minor (or sometimes called β thalassemia trait). This is a mild microcytic anemia. In most cases β thalassemia minor is asymptomatic, and many affected people are unaware of the disorder. Detection usually involves measuring the mean corpuscular volume (size of red blood cells) and noticing a slightly decreased mean volume than normal.
If both alleles have thalassemia mutations, the disease is called β thalassemia major or Cooley’s anemia. This is a severe microcytic, hypochromic anemia. Untreated, this progresses to death before age twenty. Treatment consists of periodic blood transfusion; splenectomy if splenomegaly is present, and treatment of transfusion-caused iron overload. Cure is possible by bone marrow transplantation.
Thalassemia intermedia is a condition intermediate between the major and minor forms. Affected individuals can often manage a normal life but may need occasional transfusions e.g. at times of illness or pregnancy, depending on the severity of their anemia.
The genetic mutations present in β thalassemias are very diverse, and a number of different mutations can cause reduced or absent β globin synthesis. Two major groups of mutations can be distinguished:

Nondeletion forms: These defects generally involve a single base substitution or small deletion or inserts near or upstream of the β globin gene. Most commonly, mutations occur in the promoter regions preceding the beta-globin genes. Less often, abnormal splice variants are believed to contribute to the disease.
Deletion forms: Deletions of different sizes involving the β globin gene produce different syndromes such as (βo) or hereditary persistence of fetal hemoglobin syndromes.

Delta (δ) thalassemia
As well as alpha and beta chains being present in hemoglobin about 3% of adult hemoglobin is made of alpha and delta chains. Just as with beta thalassemia, mutations can occur which affect the ability of this gene to produce delta chains. A mutation that prevents formation of any delta chains is termed a delta0 mutation, whereas one that decreases but does not eliminate production of delta chain is termed a delta+ mutation. When one inherits two delta0 mutations, no hemoglobin A2 (alpha2,delta2) can be formed. Hematologically, however, this is innocuous because only 2-3% of normal adult hemoglobin is hemoglobin A2. The individual will have normal hematological parameters (erythrocyte count, total hemoglobin, mean corpuscular volume, red cell distribution width). Individuals who inherit only one delta thalassemia mutation gene will have a decreased hemoglobin A2, but also no hematological consequences. The importance of recognizing the existence of delta thalassemia is seen best in cases where it may mask the diagnosis of beta thalassemia trait. In beta thalassemia, there is an increase in hemoglobin A2, typically in the range of 4-6% (normal is 2-3%). However, the co-existence of a delta thalassemia mutation will decrease the value of the hemoglobin A2 into the normal range, thereby obscurring the diagnosis of beta thalassemia trait. This can be important in genetic counseling, because a child who is the product of parents each of whom has beta0 thalassemia trait has a one in four chance of having beta thalassemia major.

In combination with other hemoglobinopathies
Thalassemia can co-exist with other hemoglobinopathies. The most common of these are:

hemoglobin E/thalassemia: common in Cambodia, Thailand, and parts of India; clinically similar to β thalassemia major or thalassemia intermedia.

hemoglobin S/thalassemia, common in African and Mediterranean populations; clinicallysimilar to sickle cell anemia, with the additional feature of splenomegaly

hemoglobin C/thalassemia: common in Mediterranean and African populations,hemoglobin C/βo thalassemia causes a moderately severe hemolytic anemia withsplenomegaly; hemoglobin C/β+ thalassemia produces a milder disease.

Treatment and complications:
Anyone with thalassemia should consult a properly qualified hematologist.

Thalassemias may co-exist with other deficiencies such as folic acid (or folate, a B-complex vitamin) and iron deficiency (only in Thalassemia Minor).

Thalassemia Major and Intermedia
Thalassemia Major patients receive frequent blood transfusions that lead to iron overload. Iron chelation treatment is necessary to prevent iron overload damage to the internal organs in patients with Thalassemia Major. Because of recent advances in iron chelation treatments, patients with Thalassemia Major can live long lives if they have access to proper treatment. Popular chelators include deferoxamine and deferiprone. Of the two, deferoxamine is preferred; it is associated with fewer side-effects.[4]

The most common complaint by patients is that it is difficult to comply with the intravenous chelation treatments because they are painful and inconvenient. The oral chelator deferasirox (marketed as Exjade) was recently approved for use in some countries and may offer some hope with compliance.

Untreated thalassemia Major eventually leads to death usually by heart failure, therefore birth screening is very important.

In recent years, bone marrow transplant has shown promise with some patients of thalassemia major. Successful transplant can eliminate the patients dependencies in transfusions.

All Thalassemia patients are susceptible to health complications that involve the spleen (which is often enlarged and frequently removed) and gall stones. These complications are mostly prevalent to thalassemia Major and Intermedia patients.

Thalassemia Intermedia patients vary a lot in their treatment needs depending on the severity of their anemia.

Thalassemia Minor:
Contrary to popular belief, Thalassemia Minor patients should not avoid iron-rich foods by default. A serum ferritin test can determine what their iron levels are and guide them to further treatment if necessary. Thalassemia Minor, although not life threatening on its own, can affect quality of life due to the effects of a mild to moderate anemia. Studies have shown that Thalassemia Minor often coexists with other diseases such as asthma, and mood disorders.

Thalassemia prevention and management:
α and β thalassemia are often inherited in an autosomal recessive fashion although this is not always the case. Reports of dominantly inherited α and β thalassemias have been reported the first of which was in an Irish family who had a two deletions of 4 and 11 bp in exon 3 interrupted by an insertion of 5 bp in the β-globin gene. For the autosomal recessive forms of the disease both parents must be carriers in order for a child to be affected. If both parents carry a hemoglobinopathy trait, there is a 25% chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families that carry a thalassemia trait.

………….thalasemia-carrier.png
………………………………….Autosomal recessive inheritance

There are an estimated 60-80 million people in the world who carry the beta thalassemia trait alone. This is a very rough estimate and the actual number of thalassemia Major patients is unknown due to the prevalence of thalassemia in less developed countries in the Middle East and Asia. Countries such as India, Pakistan and Iran are seeing a large increase of thalassemia patients due to lack of genetic counseling and screening. There is growing concern that thalassemia may become a very serious problem in the next 50 years, one that will burden the world’s blood bank supplies and the health system in general. There are an estimated 1,000 people living with Thalassemia Major in the United States and an unknown number of carriers. Because of the prevalence of the disease in countries with little knowledge of thalassemia, access to proper treatment and diagnosis can be difficult.

As with other genetically acquired disorders, aggressive birth screening and genetic counseling is recommended.

A screening policy exists on both sides of the island of Cyprus to reduce the incidence of thalassemia, which since the program’s implementation in the 1970s (which also includes pre-natal screening and abortion) has reduced the number of children born with the hereditary blood disease from 1 out of every 158 births to almost zero.
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Click to learn Homeopath, Dr.P.Banerji’s  view on Thalassemia

Benefits:
Being a carrier of the disease may confer a degree of protection against malaria, and is quite common among people from Italian or Greek origin, and also in some African and Indian regions. This is probably by making the red blood cells more susceptible to the less lethal species Plasmodium vivax, simultaneously making the host RBC environment unsuitable for the merozoites of the lethal strain Plasmodium falciparum. This is believed to be a selective survival advantage for patients with the various thalassemia traits. In that respect it resembles another genetic disorder, sickle-cell disease.

Epidemiological evidence from Kenya suggests another reason: protection against severe anemia may be the advantage.
People diagnosed with heterozygous (carrier) Beta-Thalassemia have some protection against coronary heart disease.

Notable patients:
Pete Sampras
Zinedine Zidane
Amitabh Bachchan
John Maguire

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://en.wikipedia.org/wiki/Thalassemia

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