সোমবার, ২৮ মার্চ, ২০১৬

Osteosarcoma

Osteosarcoma
Osteosarcoma is a cancerous tumor in a bone. Specifically, it is an aggressive malignant neoplasm that arises from primitive transformed cells of mesenchymal origin (and thus a sarcoma) and that exhibits osteoblastic differentiation and produces malignantosteoid.
Osteosarcoma is the most common histological form of primary bone cancer. It is most prevalent in children and young adults.


Signs and symptoms

Many patients first complain of pain that may be worse at night, and may have been occurring for some time. Also, teenagers who are active in sports tend to complain about pain in their lower femur, or right below the knee. If the tumor is large, it can appear as a swelling. Sometimes a sudden fracture of bone is the first symptom because affected bone is not as strong as normal bones and may fracture with minor trauma (a pathological fracture). According to Bone Cancer Research Trust, the pain may come and go and vary in intensity. The swelling will not be visible if it is not near the surface of the body such as on the pelvis.

Causes

Several research groups are investigating cancer stem cells and their potential to cause tumors. Radiotherapy for unrelated conditions may be a rare cause.
·         Familial cases where the deletion of chromosome '13q14' inactivates the retinoblastoma gene is associated with a high risk of osteosarcoma development.
·         Bone dysplasias, including Paget's disease, fibrous dysplasia, enchondromatosis, and hereditary multiple exostoses, increase the risk of osteosarcoma.
·         Li–Fraumeni syndrome (germline TP53 mutation) is a predisposing factor for osteosarcoma development.
·         Rothmund–Thomson syndrome (i.e. autosomal recessive association of congenital bone defects, hair and skin dysplasias, hypogonadism, and cataracts) is associated with increased risk of this disease.

Diagnosis

Family physicians and orthopedists rarely see a malignant bone tumor (most bone tumors are benign). The route to osteosarcoma diagnosis usually begins with an X-ray, continues with a combination of scans (CT scan, PET scan, bone scan, MRI) and ends with a surgical biopsy. A characteristic often seen in an X-ray is Codman's triangle, which is basically a subperiosteal lesion formed when the periosteum is raised due to the tumor. Films are suggestive, but bone biopsy is the only definitive method to determine whether a tumor is malignant or benign.
The biopsy of suspected osteosarcoma should be performed by a qualified orthopedic oncologist. The American Cancer Society states: "Probably in no other cancer is it as important to perform this procedure properly. An improperly performed biopsy may make it difficult to save the affected limb from amputation." It may also metastasise to the lungs, mainly appearing on the chest X-ray as solitary or multiple round nodules most common at the lower regions.

 

Variants

·         Conventional: osteoblastic, chondroblastic, fibroblastic OS
·         Telangiectatic OS
·         Small cell OS
·         Low-grade central OS
·         Periosteal OS
·         Paraosteal OS
·         Secondary OS
·         High-grade surface OS
·         Extraskeletal OS

Treatment

A complete radical, surgical, en bloc resection of the cancer, is the treatment of choice in osteosarcoma. Although about 90% of patients are able to have limb-salvage surgery, complications, particularly infection, prosthetic loosening and non-union, or local tumor recurrence may cause the need for further surgery or amputation.
Mifamurtide is used after a patient has had surgery to remove the tumor and together with chemotherapy to kill remaining cancer cells to reduce the risk of cancer recurrence. Also, the option to have rotationplasty after the tumor is taken out exists.
Patients with osteosarcoma are best managed by a medical oncologist and an orthopedic oncologist experienced in managing sarcomas. Current standard treatment is to useneoadjuvant chemotherapy (chemotherapy given before surgery) followed by surgical resection. The percentage of tumor cell necrosis (cell death) seen in the tumor after surgery gives an idea of the prognosis and also lets the oncologist know if the chemotherapy regimen should be altered after surgery.
Standard therapy is a combination of limb-salvage orthopedic surgery when possible (or amputation in some cases) and a combination of high-dose methotrexate with leucovorinrescue, intra-arterial cisplatin, adriamycin, ifosfamide with mesna, BCD (bleomycin, cyclophosphamide, dactinomycin), etoposide, and muramyl tripeptide. Rotationplasty may be used. Ifosfamide can be used as an adjuvant treatment if the necrosis rate is low.
Despite the success of chemotherapy for osteosarcoma, it has one of the lowest survival rates for pediatric cancer. The best reported 10-year survival rate is 92%; the protocol used is an aggressive intra-arterial regimen that individualizes therapy based on arteriographic response. Three-year event-free survival ranges from 50% to 75%, and five-year survival ranges from 60% to 85+% in some studies. Overall, 65-70% patients treated five years ago will be alive today. These survival rates are overall averages and vary greatly depending on the individual necrosis rate.
Fluids are given for hydration, while antiemetic drugs (such as the 5-HT3 receptor antagonists e.g. granisetron and ondansetron) help with nausea and vomiting. Filgrastim orpegfilgrastim help with white blood cell counts and neutrophil counts. Blood transfusions and epoetin alfa help with anemia.



শুক্রবার, ২৫ মার্চ, ২০১৬

Hemophilia


Hemophilia

Definition

Hemophilia is a rare disorder in which your blood doesn't clot normally because it lacks sufficient blood-clotting proteins (clotting factors). If you have hemophilia, you may bleed for a longer time after an injury than you would if your blood clotted normally.
Small cuts usually aren't much of a problem. The greater health concern is deep bleeding inside your body, especially in your knees, ankles and elbows. That internal bleeding can damage your organs and tissues, and may be life-threatening.


Hemophilia is an inherited (genetic) disorder. There's no cure yet. But with proper treatment and self-care, most people with hemophilia can maintain an active, productive lifestyle.

Symptoms

Signs and symptoms of hemophilia vary, depending on your level of clotting factors. If your clotting-factor level is mildly reduced, you may bleed only after surgery or trauma. If your deficiency is severe, you may experience spontaneous bleeding.
Signs and symptoms of spontaneous bleeding include:
·         Unexplained and excessive bleeding from cuts or injuries, or after surgery or dental work
·         Many large or deep bruises
·         Unusual bleeding after vaccinations
·         Pain, swelling or tightness in your joints
·         Blood in your urine or stool
·         Nosebleeds without a known cause
·         In infants, unexplained irritability
Emergency signs and symptoms of hemophilia include:
·         Sudden pain, swelling and warmth in large joints, such as knees, elbows, hips and shoulders, and in your arm and leg muscles
·         Bleeding from an injury, especially if you have a severe form of hemophilia
·         Painful, prolonged headache
·         Repeated vomiting
·         Extreme fatigue
·         Neck pain
·         Double vision

Causes

When you bleed, your body normally pools blood cells together to form a clot to stop the bleeding. The clotting process is encouraged by certain blood particles (platelets and plasma proteins). Hemophilia occurs when you have a deficiency in one of these clotting factors.
Hemophilia is inherited. However, about 30 percent of people with hemophilia have no family history of the disorder. In these people hemophilia is caused by a genetic change (spontaneous mutation).
There are several types of hemophilia. They are classified according to which clotting factor is deficient:
·         Hemophilia A, the most common type, is caused by insufficient clotting factor VIII.
·         Hemophilia B, the second most common type, is caused by insufficient clotting factor IX.
·         Hemophilia C, in which signs and symptoms are often mild, is caused by insufficient clotting factor XI.

Hemophilia inheritance

Everyone has two sex chromosomes, one from each parent. A female inherits an X chromosome from her mother and an X chromosome from her father. A male inherits an X chromosome from his mother and a Y chromosome from his father.
Hemophilia inheritance depends on your type of hemophilia:
·         Hemophilia A or B. The gene that causes them is located on the X chromosome, so it can't be passed from father to son. Hemophilia A or B almost always occurs in boys and is passed from mother to son through one of the mother's genes. Most women with the defective gene are simply carriers and experience no signs or symptoms of hemophilia. Women can experience bleeding symptoms if their factor VIII or IX is moderately decreased.
·         Hemophilia C. This disorder can be passed on to children by either parent. Hemophilia C can occur in girls and boys.

Complications

Complications of hemophilia may include:
·         Deep internal bleeding. Bleeding that occurs in deep muscle can cause your limbs to swell. The swelling may press on nerves and lead to numbness or pain.
·         Damage to joints. Internal bleeding may also put pressure on your joints, causing severe pain. Left untreated, frequent internal bleeding may cause arthritis or destruction of the joint.
·         Infection. People with hemophilia are likelier to have blood transfusions, increasing their risk of receiving contaminated blood products. Blood products became safer after the mid-1980s due to screening of donated blood for hepatitis and human immunodeficiency virus (HIV). The risk of infection through blood products also has decreased substantially since the introduction of genetically engineered clotting products (recombinant factor concentrates).
·         Adverse reaction to clotting factor treatment. In some people with hemophilia, the immune system has a negative reaction to the clotting factors used to treat bleeding. When this happens, the immune system develops proteins (known as inhibitors) that inactivate the clotting factors, making treatment less effective.

Treatments and drugs

While there's no cure for hemophilia, most people with the disease can lead fairly normal lives.

Treatment for bleeding episodes

Therapies to stop bleeding depend on the type of hemophilia:
·         Mild hemophilia A. Slow injection of the hormone desmopressin (DDAVP) into a vein can stimulate a release of more clotting factor to stop bleeding. Occasionally, DDAVP is given as a nasal medication.
·         Moderate to severe hemophilia A or hemophilia B.Bleeding may stop only after an infusion of recombinant clotting factor or clotting factor derived from donated human blood. Repeated infusions may be needed if internal bleeding is severe.
·         Hemophilia C. Clotting factor XI, the factor missing in this type of hemophilia, is available only in Europe. In the United States, plasma infusions are needed to stop bleeding episodes.

Ongoing treatment

Your doctor may recommend:
·         Regular infusions of DDAVP or clotting factor. The infusions can help prevent bleeding. This approach may reduce time spent in the hospital and limit side effects such as damage to joints. Your doctor can show you how to perform the infusions.
·         Clot-preserving medications (antifibrinolytics). These medications help prevent clots from breaking down.
·         Fibrin sealants. These medications can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are especially useful in dental therapy.
·         Physical therapy. It can ease signs and symptoms if internal bleeding has damaged your joints. If internal bleeding has caused severe damage, you may need surgery.
·         First aid for minor cuts. Using pressure and a bandage will generally take care of the bleeding. For small areas of bleeding beneath the skin, use an ice pack. Ice pops can be used to slow down minor bleeding in the mouth.
·         Vaccinations. Although blood products are screened, it's still possible for people who rely on them to contract diseases. If you have hemophilia, consider receiving immunization against hepatitis A and B.

Hemophilia Physical Therapy

Physical Therapy Role:

Physical therapy for the child with hemophilia is aimed at maintaining ROM and strength in all joints and at preventing or diminishing disability. Specific goals include:
PRICE protocol in case of acute Bleeding: 
  • PRICE (Protection, Rest, Ice, Compression, Elevation)- PRICE is a treatment many health care professionals recommend for joint bleeds. It also reduces swelling and tissue damage when used together with clotting factor concentrates.
Prevention of contractures:
  • Manual traction and mobilization.
  • Progressive/dynamic splinting.
  • Serial casting/drop-out casts.
  • Active ROM exercises (passive ROM is generally contraindicated).  
Maintaining strength:
  • Isometric strengthening exercises initially, then graded progressive exercises.
  • Exercise in a pool, hot soaks in a tub, or whirlpool baths.  It is easier to move the body in water. Good for aerobic conditioning. 
Preventing or diminishing disability:
  • Gait training.
  • Proprioceptive training.
  • Bracing/splints-provides stabilization and protection.

Additional Therapy Measures and the Use of Assistive Devices

The use of additional modalities to facilitate an exercise program is also recommended. Although some of these treatments require a visit to a physical therapist, most can be learned by the patient and incorporated into a home exercise program.
o   ASSISTIVE DEVICES: Assistive devices, such as canes and crutches may be necessary to help rest a joint or muscle, especially during an acute bleeding episode. Assistive devices should be used only when necessary. If used for a prolonged period of time, assistive devices can increase the chance of causing bleeds in the upper extremities, especially the elbows.

·         ELECTRICAL STIMULATION: Electrical stimulation can be used to stimulate a muscle contraction for muscle strengthening. A process called transcutaneous electric nerve stimulation, or TENS, may be used for pain control.
o   HEAT: Heat can be used to help relieve pain and promote relaxation. DO NOT use heat during the acute phase of a bleeding episode.
o   ICE: The use of ice has been mentioned in the treatment of acute joint and muscle bleeds. Ice may also be effective before or after an exercise session to reduce inflammation.
o   MASSAGE and RELAXATION: Massage, relaxation and visual imagery can help relax tense muscles. This may alleviate stress and decrease pain related to bleeding episodes.
o   SPLINTS and BRACES: Elastic, neoprene, splints and arch supports may be used to support a joint and some adjacent muscles. These devices help protect the joint; however, some can restrict joint movement. Restricted joint movement may result in muscle wasting and weakness and thus an active strengthening program is necessary to maintain normal strength.
The ultimate objective in physical therapy and hemophilia care is to restore each individual to their highest level of musculoskeletal performance and activity after a bleeding episode. To do this, it is important to incorporate regular exercise or sports into your everyday life. Specific sports such as swimming, weight lifting, golf, tennis, bicycling, and brisk walking are recommended for those with hemophilia to maintain muscle strength and cardiovascular fitness. A healthier body is linked to a healthier mind and this improves your quality of life.


Cauda Equina Syndrome



Cauda Equina Syndrome
Although leg pain is common and usually goes away without surgery, cauda equina syndrome, a rare disorder affecting the bundle of nerve roots (cauda equina) at the lower (lumbar) end of the spinal cord, is a surgical emergency.
An extension of the brain, the nerve roots send and receive messages to and from the pelvic organs and lower limbs. Cauda equina syndrome occurs when the nerve roots in the lumbar spine are compressed, cutting off sensation and movement. Nerve roots that control the function of the bladder and bowel are especially vulnerable to damage.
If patients with cauda equina syndrome do not seek immediate treatment to relieve the pressure, it can result in permanent paralysis, impaired bladder and/or bowel control, loss of sexual sensation, and other problems. Even with immediate treatment, some patient may not recover complete function.

Causes
Cauda equina syndrome may be caused by a herniated disk, tumor, infection, fracture, or narrowing of the spinal canal.

Symptoms
Although early treatment is required to prevent permanent problems, cauda equina syndrome may be difficult to diagnose. Symptoms vary in intensity and may evolve slowly over time.
See your doctor immediately if you have:
  • Bladder and/or bowel dysfunction, causing you to retain urine or be unable to hold it.
  • Severe or progressive problems in the lower extremities, including loss of or altered sensation between the legs, over the buttocks, the inner thighs and back of the legs (saddle area), and feet/heels.
Treatment
If you have cauda equina syndrome, you may need urgent surgery to remove the material that is pressing on the nerves. The surgery may prevent pressure on the nerves from reaching the point at which damage is irreversible.

Living With Cauda Equina Syndrome
Surgery may not repair permanent nerve damage. If this occurs as a result of cauda equina syndrome, you can learn how to improve your quality of life.
Some suggestions:
·         In addition to medical personnel, you may want to get help from an occupational therapist, social worker, continence advisor, or sex therapist.
·         Involve your family in your care.
·         To learn all you can about managing the condition, you may want to join a cauda equina syndrome support group.

Managing Bladder and Bowel Function
Some bladder and bowel function is automatic, but the parts under voluntary control may be lost if you have cauda equina syndrome. This means you may not know when you need to urinate or move your bowels, and/or you may not be able to eliminate waste normally.
Some general recommendations for managing bladder and bowel dysfunction:
·         Empty the bladder completely with a catheter 3 to 4 times each day. Drink plenty of fluids and practice regular personal hygiene to prevent urinary tract infection.
·         Check for the presence of waste regularly and clear the bowels with gloved hands. You may want to use glycerin suppositories or enemas to help empty the bowels. Use protective pads and pants to prevent leaks.