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Sarcoglycanopathy: Symptoms & Treatments

Sarcoglycanopathy: A form of limb-girdle muscular dystrophy involving abnormalities of the sarcoglycan protein which results in progressive muscle weakness. The severity is greatly variably from wheelchair confinement at the age of 9 years to asymptomatic adults. Most tend to live to their third decade. More detailed information about the symptoms, causes, and treatmentsof Sarcoglycanopathy is available below.

 Symptoms of Sarcoglycanopathy:The list of signs and symptoms mentioned in various sources for Sarcoglycanopathyincludes the 18 symptoms listed below:

  • Delayed motor milestones
  • Calf muscle hypertrophy
  • Abnormal curvature of the spine
  • Weakness of pelvic muscles
  • Weakness of shoulder muscles
  • Wasting of pelvic muscles
  • High creatine kinase level
  • Toe walking
  • Muscle pain
  • Muscle cramps
  • Foot drop
  • Loss of mobility
  • Lordosis
  • Wasting of front of thigh
  • Wasting of back of thighs
  • Wasting of shoulder girdle muscles
  • Hip flexion contractures
  • Unusual smile

 

Treatments:

  • Family Practice
  • Pediatrics (Child Health Specialist)
  • Adolescent Medicine (Teen Health)
  • Geriatric Medicine (Senior Health)
  • Internal Medicine
  • Critical Care Medicine
  • Public Health

Doctors and specialists in areas related to Sarcoglycanopathy:

    • Muscle and Orthopedic Specialists:
      • Neuromusculoskeletal Medicine
      • Orthopedic Surgery

 

Pyeloplasy: Symptoms & Procedure

Pyeloplasty is an operation to correct a blockage that has occurred between the kidney and the ureter. The ureter is the tube which drains the kidney into the bladder. Removing the blockage allows urine to drain freely from the kidney to the bladder.
What is a Laparoscopic Pyeloplasty ? A Laparoscopic Pyeloplasty is a minimally invasive surgical procedure to correct a blockage or narrowing (puj obstruction) of the junction of the kidney to the tube draining urine.Why is Laparoscopic Pyeloplasty performed ?

Obstruction of the ureteropelvic junction (UPJ) can be caused by congenital abnormalities like horseshoe kidney, fibrous scarring due to stone or previous operation, a blood vessel which may cause it to kink or a stone that gets impacted in the upper part of ureter. This can cause damage to kidney tissue and eventually lead to pain, stones, infection, high blood pressure, deterioration of kidney function and kidney failure. Laparoscopic Pyeloplasty is the procedure of choice to relieve all these symptoms.

Who is an ideal candidate for Laparoscopic Pyeloplasty ?

If you have obstruction of the ureteropelvic junction (UPJ) which can be caused by congenital abnormalities like horseshoe kidney, fibrous scarring due to stone or previous operation, or if you have a blood vessel which may cause your ureteropelvic junction (UPJ) to kink or if you have a stone that gets impacted in the upper part of ureter, then you are an ideal candidate for Laparoscopic Pyeloplasty.

Preparation for surgery:
Medications to Avoid Prior to Surgery

Aspirin, Motrin, Ibuprofen, Advil, Alka Seltzer, Vitamin E, Ticlid, Coumadin, Lovenox, Celebrex, Voltaren, Vioxx, Plavix and some other arthritis medications can cause bleeding and should be avoided 1 week prior to the date of surgery (Please contact your surgeon’s office if you are unsure about which medications to stop prior to surgery. Do not stop any medication without contacting the prescribing doctor to get their approval).

Bowel Preparation and Clear Liquid Diet

Do not eat or drink anything after midnight the night before the surgery and drink one bottle of Magnesium Citrate (can be purchased at your local pharmacy) the evening before your surgery.Drink only clear fluids for a 24-hour period prior to the date of your surgery. Clear liquids are liquids that you are able to see through. Please follow the diet below.

Clear Liquid Diet
Remember not to eat or drink anything after midnight the evening before your surgery. Clear liquids are liquids that you are able to see through.

Please follow the diet below :

  • Water
  • Clear Broths (no cream soups, meat, noodles etc.)
  • Chicken broth
  • Beef broth
  • Juices (no orange juice or tomato juice)
  • Apple juice or apple cider
  • Grape juice
  • Cranberry juice
  • Tang
  • Hawaiian punch
  • Lemonade
  • Kool Aid
  • Gator Aid
  • Tea (you may add sweetener, but no cream or milk)
  • Coffee (you may add sweetener, but no cream or milk)
  • Clear Jello (without fruit)
  • Popsicles (without fruit or cream)
  • Italian ices or snowball (no marshmallow)
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Q. How is the operation done ?

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Figure : an illustration of the kidney and ureter before, during and following the procedure.

 

The first part of the operation is to give you an anaesthetic (put you to sleep) so that you will not be aware of anything whilst the operation is being performed.

The operation can take 3-4 hours, but can vary depending upon the individual. Three small cuts (approximately 1cm) are made in your stomach to perform the operation. A small plastic tube (stent) is placed inside the pipe leading from the kidney (ureter) at the beginning of the operation to bridge the surgical repair and help urine to drain freely from the kidney involved.

The tube will be left inside for 4-6 weeks and you will return as a day case to have this removed. This is done under local anaesthesia through the passage where you pass urine.

A tube (catheter) is placed into your bladder to allow urine to drain whilst you recover from your operation. The urine may have blood in it but this is normal and will clear in a day or two. The tube (catheter) will be removed once you are walking around, in a day or two.

You may also have a wound drain in your stomach to drain away any blood. This will be removed when there is little or no fluid draining from it.

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Figure: Traditional open kidney surgery is performed through an 8-12 inch incision extending from the ribs towards the abdomen. A portion of one of the ribs is usually removed as part of the surgery.

 

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Figure : An illustration of 3 incisions during the procedure

 

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Advantages over open surgery
  • Less pain
  • Shorter hospital stay
  • Quicker recovery
  • Better cosmetic result

Q. What is the recovery period like following Laparoscopic Pyeloplasty ?

You will spend the next few hours following Laparoscopic Pyeloplasty, in the recovery room to monitor your vital signs and observe for any immediate post-operative complications. You will be hospitalized for 24 – 48 hours following Laparoscopic Pyeloplasty. Pain medication and antibiotics will be given post-operatively.

The stent will be removed 4 – 6 weeks after Laparoscopic Pyeloplasty. Avoid performing strenuous activities like lifting something heavy, jogging, treadmill or playing sports for at least 2 weeks after Laparoscopic Pyeloplasty. You will be instructed to move around, avoid getting constipated, do some very simple breathing exercises to help prevent respiratory infections. You will be able to perform all your routine daily activities in about 2 – 4 weeks time after Laparoscopic Pyeloplasty.

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Potential Risks and Complications

Although this procedure has proven to be very safe, as in any surgical procedure there are risks and potential complications. The safety and complication rates are similar when compared to the open surgery.

Potential risks include : -

    • Bleeding : – Blood loss during this procedure is typically minor (less than 100 cc) and a blood transfusion is rarely required. If you are still interested in autologous blood transfusion (donating your own blood) prior to your surgery, you must make your surgeon aware. When the packet of information is mailed or given to you regarding your surgery, you will receive an authorization form for you to take to the Red Cross in your area.
    • Infection : – All patients are treated with broad-spectrum intravenous antibiotics prior to starting the surgery to decrease the chance of infection from occurring after surgery. If you develop any signs or symptoms of infection after the surgery (fever, drainage from your incision, urinary frequency, discomfort, pain or anything that you may be concerned about) please contact us at once.
    • Hernia : – Hernias at incision sites rarely occur since all keyhole incisions are closed carefully at the completion of your surgery.
    • Tissue / organ injury : – Although uncommon, possible injury to surrounding tissue and organs including bowel, vascular structures, spleen, liver, pancreas and gallbladder could require further surgery. Injury could occur to nerves or muscles related to positioning.
    • Conversion to open surgery : – this surgical procedure may require conversion to the standard open operation if extreme difficulty is encountered during the laparoscopic procedure. This could result in a larger standard open incision and possibly a longer recuperation period.
  • Failure to correct UPJ obstruction : – Roughly 3 % of patients undergoing this operation will have persistent blockage due to recurrent scarring. If this occurs additional surgery may be necessary.

Q. What is the outcome of Laparoscopic Pyeloplasty ?

Laparoscopic Pyeloplasty almost has a success rate of 95%, there is reduced hospital stay (one day in younger, healthy patients), faster healing and quicker return to normal activity and work.

Trigeminal neuralgia: Symptoms, Causes and Treatments

What Is Trigeminal Neuralgia?

Trigeminal neuralgia (TN), also called tic douloureux, is a condition that is characterized by intermittent, shooting pain in the face.

Trigeminal neuralgia affects the trigeminal nerve, one of the largest nerves in the head. The trigeminal nerve sends impulses of touch, pain, pressure, and temperature to the brain from the face, jaw, gums, forehead, and around the eyes.

What Causes Trigeminal Neuralgia?

The most frequent cause of trigeminal neuralgia is a blood vessel pressing on the nerve near the brain stem. Over time, changes in the blood vessels of the brain can result in blood vessels rubbing against the trigeminal nerve root. The constant rubbing with each heartbeat wears away the insulating membrane of the nerve, resulting in nerve irritation.

What Are the Symptoms of Trigeminal Neuralgia?

Trigeminal neuralgia causes a sudden, severe, electric shock-like, or stabbing pain that lasts several seconds. The pain can be felt on the face and around the lips, eyes, nose, scalp, and forehead. Symptoms can be brought on when a person is brushing the teeth, putting onmakeup, touching the face, swallowing, or even feeling a slight breeze.

Trigeminal neuralgia is often considered one of the most painful conditions seen in medicine. Usually, the pain is felt on one side of the jaw or cheek, but some people experience pain at different times on both sides. The attacks of pain may be repeated one after the other. They may come and go throughout the day and last for days, weeks, or months at a time. At times, the attacks can disappear for months or years. The disorder is more common in women than in men and rarely affects anyone younger than age 50.

How Is Trigeminal Neuralgia Diagnosed?

Magnetic resonance imaging (MRI) can be used to determine whether a tumor or multiple sclerosis is irritating the trigeminal nerve. Otherwise, no test can determine with certainty the presence of trigeminal neuralgia. Tests can, however, help rule out other causes of facial disorders. Trigeminal neuralgia usually is diagnosed based on the patient’s description of the symptoms.

How Is Trigeminal Neuralgia Treated?

Trigeminal neuralgia can be treated with antiseizure drugs such as Tegretol (carbamazepine) or Neurontin (gabapentin). The medications Klonopin (clonazepam) and Depakote (divalproex sodium) may also be effective and may be used in combination with other drugs to achieve pain relief. Some antidepressant drugs also have significant pain relieving effects.

If medications are ineffective or if they produce undesirable side effects, neurosurgical procedures are available to relieve pressure on the nerve or to reduce nerve sensitivity.

Surgery : Micro vascular decompression so patient will be free of all symptoms.

Some patients report having reduced or relieved pain by means of alternative medical therapies such as acupuncture, chiropractic adjustment, self-hypnosis, or meditation.

Myopathy : symptoms, causes and treatments

Signs and Symptoms of Myopathy:

Although symptoms depend on the type of myopathy, some generalizations can be made. Skeletal muscle weakness is the hallmark of most myopathies, with some noticeable exceptions, such as myotonia and paramyotonia congenita. In these two inheritable muscular disorders, the muscles become enlarged, rather than weakened and atrophied, and do not relax after contracting.In most myopathies, weakness occurs primarily in the muscles of the shoulders, upper arms, thighs, and pelvis (proximal muscles). In some cases, the distal muscles of the hands and feet may be involved during the advanced stage of disease.

Other typical symptoms of muscle disease include the following:

  1. Aching.
  2. Cramping
  3. Pain
  4. Stiffness
  5. Tenderness\
  6. Tightnes

Initially, individuals may feel fatigued doing very light physical activity. Walking and climbing stairs may be difficult because of weakness in the pelvic and leg muscles that stabilize the trunk.
Patients often find it difficult to rise from a chair. As the myopathy progresses, there may be muscle wasting.

Treatment for Myopathy:

Treatment for myopathies depends on the cause. The goals of myopathy treatment are to slow progression of the disease and relieve symptoms.

Treatments range from drug therapy for muscular dystrophies and inflammatory myopathies to avoiding situations that work the muscles too hard for metabolic myopathies. Some physicians recommend that patients with myopathy keep their weight down (a lighter body demands less work from the muscles) and avoid overexerting the muscles.
When breathing problems develop, an incentive spirometer can help improve breathing function in some patients. Unfortunately, there is no way to strengthen the breathing muscles.
Treatment for Muscular Dystrophies:
The goals of MD treatment are to slow progression of disease and relieve symptoms. Duchenne MD and Becker MD are the subjects of current medical research and clinical trials may be available for patients with either disease.
Corticosteroids (e.g., deflazacort, prednisone) seem to be the most effective medications. Both improve strength and walking ability for about 6 months in boys with Duchenne dystrophy. Following initial improvement, further progression of the disease may be delayed for 3 to 5 years in some cases.
Prolonged use of corticosteroids can cause severe side effects including the following:

  • Bone loss (osteoporosis)
  • Depression
  • High blood pressure (hypertension)
  • Thinning of the skin
  • Weight gain

Calcium supplements and antidepressants may be prescribed to counteract these side effects.
Preventive treatment for permanent contraction of a muscle (contractures) includes physical therapy and bracing. There are currently no drugs available to prevent or treat contractures.
Heel cord surgery (also called tendon release) and spine-straightening surgery (i.e., rod insertion) may be necessary in cases of severe contractures. Heel cord surgery is performed when the patient is still able to walk. Braces are usually required following surgery.

Treatment for Endocrine Myopathies:

Often, treating the underlying condition helps relieve muscle weakness and pain associated with endocrine myopathies.
Treatment for Inflammatory Myopathies:

Inflammatory myopathies, such as polymyositis and dermatomyositis, are usually treated with drugs that suppress the action of the immune system. Prednisone is most commonly used to treat inflammatory myopathies. It is used initially in high doses (up to 100mg/day) and then slowly tapered to the lowest possible dose that relieves symptoms. Long-term use of prednisone can cause severe side effects, including bone loss, depression, and high blood pressure.

Treatment for Metabolic Myopathies:

The primary goal in treating metabolic myopathies is to avoid situations that tax the muscles and promote muscle pain and weakness, like strenuous exercise.

Dengue fever: Symptoms, causes and treatments

Dengue Symptoms and Signs

Primary symptoms of dengue appear three to 15 days after the mosquito bite and include the following:

  • high fever and severe headache,
  • with severe pain behind the eyes that is apparent when trying to move the eyes.

Other associated symptoms are:

  • joint pain,
  • muscle and bone pain,
  • rash,
  • and mild bleeding.

Many affected people complain of high knee pain and low back pain.

Dengue infection is a leading cause of death and sickness in tropical and subtropical parts of the world. Dengue is caused by one of four viruses that are transmitted by the bite of an infected mosquito. Dengue hemorrhagic fever is a more serious form of dengue infection.

Primary symptoms of dengue appear three to 15 days after the mosquito bite and include high fever and severe headache, with severe pain behind the eyes that is apparent when trying to move the eyes. Other associated symptoms are joint pain, muscle and bone pain, rash, and mild bleeding. Many affected people complain of low back pain. The lymph nodes of the neck and groin may be swollen. Young children and people infected for the first time typically have milder symptoms than older children and adults.

Dengue hemorrhagic fever starts with the typical signs and symptoms of dengue as described above. The fever lasts from two to seven days. After the fever begins to abate, symptoms occur that are related to increased permeability of the capillary blood vessels. These symptoms can include severe abdominal pain, prolonged vomiting, and breathing problems. Bleeding tendencies, including easy bruising, nosebleeds, bleeding gums, skin hemorrhages, and even internal bleeding may occur. The disease may progress to failure of the circulatory system, leading to shock and death.

How is dengue fever contracted?

The virus is contracted from the bite of a striped Aedes aegypti mosquito that has previously bitten an infected person. The mosquito flourishes during rainy seasons but can breed in water-filled flower pots, plastic bags, and cans year-round. One mosquito bite can cause the disease.

The virus is not contagious and cannot be spread directly from person to person. It is mosquito-borne, so there must be a person-to-mosquito-to-another-person pathway. The full life cycle of the virus involves the mosquito as the vector (transmitter) and the human as the source of infection.

What is the incubation period for dengue fever?

After being bitten by a mosquito carrying the virus, the incubation period for dengue fever ranges from three to 15 (usually five to eight) days before the signs and symptoms of dengue appear in stages.

Treatments:

It is found that at present there is no specific vaccine which can kill the virus of dengue fever not even a single antivirus tablets have been manufactured.
Dengue fever is treated by a medicine which is known as Paracetamol, an anti-pyretic.

The pain during the dengue fever in the bones can be relaxed through the pain killing tablets or by analgesics.

Patient must be hospitalized when there is DHF and DSS. The rate mortality is found to be high, about 50%, in the case of not getting hospitalized timely. With the help of hospitals, the treatment makes the mortality rate down to near about 3%. There are some other supportive treatments which help in the treatment of patient suffer from dengue. It includes Fluid of intravenous replacement which helps in preventing the shock.

Now-a-days, vaccines start getting developed for the treatment against four serotypes of dengue. They proved to be the best way to cure the disease of dengue.

In many endemic countries, it is found that the measures in preventing from mosquitoes have been failed. Patients start getting more prone to dehydration after drinking plenty of liquid things. In some of the cases, the prevention can be done through oxygen. And the use of Steroids is not considered useful.

Dengue Fever Testing:

How is it used?

The testing of dengue fever is done to determine whether the recent potential exposure and symptoms of the person body has been infected by dengue or not. It is difficult to diagnose the infection without doing laboratory tests as the symptoms initially may resemble like diseases like malaria. There are 2 types of testing available:

  • Antibody tests— primarily these tests are used to help in diagnosing a recent or current infection. 2 different antibodies classes are detected by them that are produced by body in response to the infection of dengue fever, IgM and IgG. A combination of both these tests is required for diagnosis due to reason that the immune system of the body produces different antibodies levels during the time of illness. IgM antibodies are 1st produced and tests for it are most effective at the time when they are performed 7-10 days later the exposure. For some weeks, the blood levels rise and then decrease gradually. After some months, the IgM antibodies gets fall down below the detectable levels. They are produced slower than the rate of infection. The level rises typically with the acute infection, it stabilizes and then it persists long-term. All those who get exposed to it prior to current infection, maintains IgG antibodies level in the level that affects the diagnostic results’ interpretation.
  • Molecular testing (PCR, polymerase chain reaction)— this test detects dengue virus’s genetic material in blood till 5 daysof the symptom onset.

When is it ordered?

Testing might be ordered at the time when people have symptoms and signs associated with dengue at tropical locations where it is present. Main symptoms and signs include:

  • Low count of white blood cells
  • Easy bruising
  • Nose and gum bleeds
  • Bone, muscle or joint pain
  • Pain behind eyes or severe headache
  • Sudden high fever (40°C or 104°F)

Usually testing is ordered within 1 to 2 weeks of the starting of the symptoms for detecting the infection. If the antibody testing is done, an additional sample of the blood is collected after 2 weeks of the symptoms in order to determine whether the level of antibody is rising.

What does the test result mean?

  • Antibody testing— the test may have negative or positive result or might be reported as the antibody titer having an interpretation of the type of antibody (IgM or IgG) present.

Positive IgG and IgM tests detected for the dengue antibodies in the blood means that the person has become infected within recent weeks with the dengue virus. If IgG comes positive but IgM is negative or low, then it is probably that the person has got an infection earlier in past. If the titer of dengue IgG antibody increases from 1:4 to 1:64 between the initial samples then it is likely to have recent infection.

Negative IgG and/or IgM antibodies means that the person tested is not having any infection and the symptoms are because of any other reason or the antibody level may be very low for measuring. The individual might still have dengue infection- it might be just that it is very soon after the virus exposure to give a detectable antibody level.

The table as follows summarizes the results seen with the antibody testing:

IgM Result IgG Result Possible Interpretation
Positive Negative Current infection
Positive Positive Current infection
Low or negative or not tested Four-fold increase in samples taken 2-4 weeks apart Recent infection
Low or negative Positive Past infection
Negative Negative Too soon after initial exposure for antibodies to develop or symptoms due to another cause

 

  • Molecular testing— the most reliable of all diagnosis is the PCR test that is considered as it detects the virus presence in the body but it is not available widely. A positive PCR result is considered conclusive. A PCR test having negative result indicates no infection present or low level of virus to detect if the test gets performed after the period of 5-day window since the time when the virus being present in the blood sample is collected. If recent exposures are suspected, then repeating the tests may be warranted later.

 

 

Which are the food reduce the dengue fever:

  • Kiwi fruit, fig, Pomogranates, papaya etc( these will increase the blood count )
  • Juice made from young leaves of papaya.(daily have one time 5ml or 3ml- continue for 3-5 days).

 

Sarcoma: Symptoms, Causes and Treatments

A sarcoma is a rare kind of cancer. Sarcomas are different from the much more common carcinomas because they happen in a different kind of tissue. Sarcomas grow in connective tissue — cells that connect or support other kinds of tissue in your body. These tumors are most common in the bones, muscles, tendons, cartilage, nerves, fat, and blood vessels of your arms and legs, but they can happen anywhere.

Sarcoma Symptoms:

Soft tissue sarcomas are hard to spot, because they can grow anywhere in your body. Most often, the first sign is a painless lump. As the lump gets bigger, it might press against nerves or muscles and make you uncomfortable or give you trouble breathing, or both. There are no tests that can find these tumors before they cause symptoms that you notice.

Osteosarcoma can show obvious early symptoms, including:

  • Pain off and on in the affected bone, which may be worse at night
  • Swelling, which often starts weeks after the pain
  • A limp, if the sarcoma is in your leg

Children and young adults get osteosarcoma more often than adults. And because healthy, active children and teens often have pain and swelling in their arms and legs, osteosarcoma might be mistaken for growing pains or a sports injury. If your child’s pain doesn’t get better, gets worse at night, and is in one arm or leg rather than both, talk to a doctor.

Sarcoma Treatments:

How your sarcoma is treated depends on what type you have, where in your body it is, how developed it is, and whether or not it has spread to other parts of your body, or metastasized.

Surgery takes the tumor out of your body. In most cases of osteosarcoma, the doctor can remove just the cancer cells, and you won’t need your arm or leg removed, too.

Radiation can shrink the tumor before surgery or kill cancer cells that are left after surgery. It could be the main treatment, if surgery isn’t an option.

Chemotherapy drugs can also be used with or instead of surgery. Chemo is often the first treatment when the cancer has spread.

Targeted therapies are newer treatments that use drugs or man made versions of antibodies from the immune system to block the growth of cancer cells while leaving normal cells undamaged.

Surviving Sarcoma:
Most people diagnosed with a soft tissue sarcoma are cured by surgery alone, if the tumor is low-grade; that means it is not likely to spread to other parts of the body. More aggressive sarcomas are harder to treat successfully.

The survival rate for osteosarcoma is between 60% and 80% if the cancer has not spread. It is more likely to be cured if all of the cancer can be removed by surgery.