Dwarfism

Dwarfism is a medical or genetic condition of short stature. The average height of an adult with dwarfism is 4 feet. There are two main types of dwarfism: disproportionate and proportionate. Disproportionate dwarfism is characterized by an average-size torso and shorter arms and legs or a shortened trunk with longer limbs. In proportionate dwarfism, the body parts are in proportion but shortened. 

Causes

There are more than 200 conditions that may cause dwarfism. Causes of proportionate dwarfism include metabolic and hormonal disorders (like hormone growth deficiency).

Skeletal dysplasias,the most common types of dwarfism, are genetic. They are conditions of abnormal bone growth that cause disproportionate dwarfism.  

They include:

Achondroplasia. This is the most common form of dwarfism, and is evident at birth. Achondroplasia occurs in about one out of 26,000 to 40,000 babies. People with this condition have a long trunk and shortened upper arms and upper legs. Other features of achondroplasia include:

• a large head with a prominent forehead
• a flattened nose bridge
• protruding jaw
• crowded and crooked teeth
• lower spine curved forward
• bowed legs
• short, flat, broad feet
• double-jointed

Spondyloepiphyseal dysplasias (SED). Is a less common form of dwarfism. It affects approximately one in 95,000 babies. SED is a group of conditions that cause a shortened trunk (which may no-show until a child is between 5 and 10 years old). Other features can include:

• club feet
• cleft palate
• severe hip osteoarthritis
• weak hands and feet
• barrel-chested appearance

Diastrophic dysplasia. A rare form of dwarfism, diastrophic dysplasia occurs in about one in 100,000 births. People who have it tend to have mesomelic shortening, which means they have shortened forearms and calves.

Other signs can include:

• deformed hands and feet
• limited range of motion
• cleft palate
• cauliflower appearance of the ears   

Dwarfism Genetics

Skeletal dysplasia is caused by a genetic mutation that can be spontaneous or inherited.

Diastrophic dysplasia and spondyloepiphyseal dysplasias are inherited in a recessive manner (child must receive a copy of the mutated gene from the mother, and a copy from the father to be affected).  

Achondroplasia is inherited in a dominant manner (only needs one copy). There is a 25% chance that a child born to a couple in which both members have achondroplasia will be of normal height. But there is also a 25% chance the child will inherit both dwarfism genes (double-dominant syndrome). This is a fatal condition that usually results in a miscarrige. 

Many times, parents of children with achondroplasia do not carry the mutated gene; the mutation occurs randomly during conception.

Diagnosis
 Dwarfism of any of there types can be diagnosed through genetic testing. Sometimes, prenatal testing is done if there is concern for certain conditions.

Some signs/ symptoms are:

• late development of some motor skills, like sitting or walking

 ear infections

• breathing problems
• weight problems

spine curvature

• bowed legs
• joint stiffness and arthritis
• lower backpain or leg numbness
• teeth crowding

Dwarfism Treatments

Early diagnosis and treatment can help prevent some problems that come with dwarfism. People with dwarfism related to growth hormone deficiency can be treated with growth hormone. 

Other treatment may include:

• Physical therapy to stretch joints and strengthen muscles
• Back braces

Draining tubes in the middle ear.

• Orthodontic treatment to fix teeth crowding
• exercise

Many times, people with dwarfism have orthopaedic or medical complications, so they need more/other treatments.




 source: http://www.webmd.com/children/dwarfism-causes-treatments

Muscular Dystrophy

Muscular dystrophy (MD) is a group of diseases that are inherited from parents, and that affects the voluntary muscles (the ones that control movement), as well as other organs in the body. MD can appear at different ages, and goes from mild to severe. The severity is determined in part by the age when it occurs. MD is progressive and some people die young. Nine major forms of muscular dystrophy:
 • MMD, Myotonic, or Steinert's disease.
o Most common form in adults.
o Rarely appears in newborns (congenital MMD).
 o Symptom is a prolonged stiffening of muscles after use, being worse in cold temperatures.
o It causes muscle weakness and affects the central nervous system, heart, gastrointestinal tract, eyes, and hormone-producing glands.
o Short life expectancy.
 • Duchenne.
 o Most common form in children.
 o Affects only males.
o It appears between 2 and 6 years old.
o Muscles decrease in size and get weaker (over time they may appear larger).
o Progression can be different, but 1 in 3,500 will need a wheelchair by age 12.
o Very often, the arms, legs, and spine become progressively deformed.
o There may be some cognitive impairment.
o When very advanced, people develop severe breathing and heart problems.
o People die young.
 • Becker.
 o This form is similar to Duchenne MD, but much milder.
o Symptoms appear later and progress more slowly.
 o It affects only males in a ratio of 1 in 30,000.
 o Causes heart problems.
o Severity varies.
o Can reach their 30s and live further into adulthood.
 • Limb-girdle.
o Appears in the teens to early adulthood.
 o Affects males and females.
 o Causes progressive weakness in the hips and extends to legs, arms, and shoulders.
o Around 20 years in the disease it affects walking to the point of paralysis.
o Affected people may live to middle age, and late adulthood.
• Facioscapulohumeral.
o Refers to the muscles that move the face, shoulder blade, and upper arm bone.
 o Appears from the teen years to early adulthood.
o Affects males and females.
 o Progresses slowly, with short periods of rapid muscle deterioration and weakness.
o Severity ranges from mild to disabling.
o Walking, chewing, swallowing, and speaking problems may occur.
o About 50% of those with this disease can walk and go with their lives.
o Most live a normal life span.
• Congenital MD.
o Means present at birth.
 o Progress slowly and affect males and females.
 o Two forms identified -- Fukuyama and Congenital MD with Myosin deficiency –
 o Cause muscle weakness at birth or in the first few months of life.
 o Causes severe and early shrinking of muscles that will cause joint problems.
o Fukuyama Congenital MD causes abnormalities in the brain and often seizures.
• Oculopharyngeal.
 o Means eye and throat (Muscles affected).
 o This form appears in men and women in their 40s, 50s, and 60s.
o Progresses slowly, causing weakness in the eye and face muscles, which may lead to difficulty swallowing.
 o Weakness in pelvic and shoulder muscles may occur later.
 o Choking and recurrent pneumonia may occur.
 • Distal.
 o Affects adults.
 o Causes weakness and wasting of the distal muscles of the forearms, hands, lower legs, and feet.
o It is less severe, progresses more slowly, and affects fewer muscles than other forms of muscular dystrophy.
• Emery-Dreifuss.
o This is a rare form of MD.
o Appears from childhood to the early teens.
o Affects only males.
o Causes muscle weakness and wasting in the shoulders, upper arms, and lower legs, and can spread to chest and pelvic muscles.
o Heart problems are common; they are life threatening.
 o Muscle shortening (contractures) occurs early in the disease.
o It progresses slowly and causes less severe weakness than other forms of MD.

Illusions

Look at this image for 30 seconds, then look at a white surface (paper, wall, etc.) and blink really quick. 

You should have seen the image in color. Why? Well, it's called a negative afterimage. It occurs because the brain, and the retina in the eye process the negative image. Its an adaptation of photo receptors in the retina. Fixating one's eyes on one spot (in this case, the red dot) reduces the micro saccades that we usually use to see everything. These micro saccades let us see these everyday things without keeping those images constantly on our mind(by keeping the image attached to a group of photo receptors). When we transfer our vision from the image to the blank/white space, photo receptors that get accustomed to the image, don't signify effectively anymore, but the photo receptors (surrounding adapted photo receptors) signal opponent cells in the lateral geniculate nucleus (LGN) that are involved in color vision. I believe that the 3 colored dots on the nose, stimulate the color receptors in the retina, and it reflects the negative image, letting your eyes see it in color.

http://webvision.med.utah.edu/2012/06/your-brain-develops-the-negative/

Sickle Cell Anemia

http://www.nhlbi.nih.gov/health/health-topics/topics/sca/
Sickle cell anemia is the most common form of sickle cell disease (SCD).
SCD is a serious disorder in which the body makes sickle-shaped red blood cells. 
Sickle cells contain abnormal hemoglobin called sickle hemoglobin or hemoglobin S.
 It causes the cells to develop a sickle, or crescent, shape.
Sickle cells are stiff and sticky. They often block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain and organ damage and raise the risk for infection. Normal red blood cells live about 120 days in the bloodstream and then die.

In sickle cell anemia, the abnormal sickle cells usually die after only about 10 to 20 days. The bone marrow can't make new red blood cells fast enough to replace the dying ones.

Sickle cell anemia is an inherited, lifelong disease.

What Causes Sickle Cell Anemia?

Sickle cell anemia is an inherited disease. People who have the disease inherit two genes for sickle hemoglobin—one from each parent.

 People who have the disease are born with it. They inherit two genes for sickle hemoglobin—one from each parent.

 People who have sickle cell trait don't have the disease, but can still pass the sickle hemoglobin gene to their children.

In the United States, it's estimated that sickle cell anemia affects 70,000–100,000 people, mainly African Americans. The disease occurs in about 1 out of every 500 African American births. Sickle cell anemia also affects Hispanic Americans. The disease occurs in more than 1 out of every 36,000 Hispanic American births.

More than 2 million Americans have sickle cell trait. The condition occurs in about 1 in 12 African Americans.

What Are the Signs and Symptoms of Sickle Cell Anemia?

 Some people have mild symptoms. Others have very severe symptoms and often are hospitalized for treatment.

Many infants don't show any signs until after 4 months of age.

The most common signs and symptoms are linked to anemia and pain. 

Signs and Symptoms Related to Anemia

• fatigue
• Shortness of breath
• Dizziness
• Headaches
• Cold hands and feet
• Paler than normal skin or mucous membranes 
• Jaundice (a yellowish color of the skin or whites of the eyes)

Signs and Symptoms Related to Pain

Sudden pain throughout the body is a common symptom of sickle cell anemia. This pain is called a sickle cell crisis. Sickle cell crises often affect the bones, lungs, abdomen, and joints.

These crises occur when sickled red blood cells block blood flow to the limbs and organs. This can cause pain and organ damage.

The pain from sickle cell anemia can be acute or chronic, but acute pain is more common. Acute pain is sudden and can range from mild to very severe. The pain usually lasts from hours to as long as a week or more.

Many people who have sickle cell anemia also have chronic pain, especially in their bones. Chronic pain often lasts for weeks or months and can be hard to bear and mentally draining. Most people who have sickle cell anemia have painful crises at some point in their lives. Some have these crises less than once a year. Others may have crises once a month or more. Repeated crises can damage (more likely to adults) the bones, kidneys, lungs, eyes, heart, and liver.

Many factors can play a role in sickle cell crises. Often, more than one factor is involved and the exact cause isn't known.

You can control some factors. For example, the risk of a sickle cell crisis increases if you're dehydrated (your body doesn't have enough fluids). Drinking plenty of fluids can lower the risk of a painful crisis.

You can't control other factors, such as infections.

Painful crises are the leading cause of emergency room visits and hospital stays for people who have sickle cell anemia.

Diagnosis

A simple blood test, done at any time during a person's lifespan, can detect whether he or she has sickle hemoglobin. However, early diagnosis is very important.
In the United States, all States mandate testing for sickle cell anemia as part of their newborn screening programs. 
If the test shows some sickle hemoglobin, a second blood test is done to confirm the diagnosis. 
Doctors also can diagnose sickle cell disease before birth. This is done using a sample of amniotic fluid or tissue taken from the placenta. 
Testing before birth can be done as early as 10 weeks into the pregnancy. This testing looks for the sickle hemoglobin gene, rather than the abnormal hemoglobin that the gene makes.

Treatment

Sickle cell anemia has no widely available cure. However, treatments can help relieve symptoms and treat complications. The goals of treating sickle cell anemia are to relieve pain; prevent infections, organ damage, and strokes; and control complications (if they occur). Blood and marrow stem cell transplants may offer a cure for a small number of people who have sickle cell anemia.

New Treatments

Research on blood and marrow stem cell transplants, gene therapy, and new medicines for sickle cell anemia is ongoing. The hope is that these studies will provide better treatments for the disease. Researchers also are looking for a way to predict the severity of the disease.

Blood and Marrow Stem Cell Transplant

 This treatment may offer a cure for a small number of people.
The stem cells used for a transplant must come from a closely matched donor. 
The transplant process is risky and can lead to serious side effects or even death. However, new transplant approaches may improve treatment for people who have sickle cell anemia and involve less risk.
These transplants are usually used for young patients who have severe sickle cell anemia. However, the decision to give this treatment is made on a case-by-case basis.
Researchers continue to look for sources of bone marrow stem cells—like, blood from babies' umbilical cords. They also continue to look for ways to reduce the risks of this procedure.

Gene Therapy

Gene therapy is being studied as a possible treatment for sickle cell anemia. Researchers want to know whether a normal gene can be put into the bone marrow stem cells of a person who has sickle cell anemia. This would cause the body to make normal red blood cells.
Researchers also are studying whether they can "turn off" the sickle hemoglobin gene or "turn on" a gene that makes red blood cells behave normally.

Prevention

You can’t prevent sickle cell anemia, because it’s an inherited disease. If a person is born with it, steps should be taken to reduce complications.

People who are at high risk of having a child with sickle cell anemia and are planning to have children may want to consider genetic counseling.

Living With Sickle Cell Anemia

With good health care, many people who have sickle cell anemia can live productive lives. They also can have reasonably good health much of the time and live longer today than in the past. Many people who have sickle cell anemia now live into their forties or fifties, or longer.
If you have sickle cell anemia, it's important to:

• Adopt or maintain a healthy lifestyle
• Take steps to prevent and control complications
• Learn ways to cope with pain

Follow a healthy diet including a variety of vegetables, fruits, whole grains, fat-free or low-fat dairy products, and protein foods.
A healthy diet is low in sodium, sugars, solid fats, and refined grains. 

- take folic acid (a vitamin) every day to help your body make new red blood cells. 
- drink at least 8 glasses of water every day, especially in warm weather.(to prevent dehydration)
-  regular physical activity(avoid activity that makes you very tired) 
- get enough sleep and rest.  Sleep apnea is a common disorder in which you have one or more pauses in breathing or shallow breaths while you sleep.
- avoid smoking and second hand smoke