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Is There A Cure For Albinism?

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Albinism or congenital hypopigmentary disorder is a genetic disorder characterized by partial or complete absence of the pigment melanin in the skin, hair, and eyes. The production of melanin is impaired due to a dysfunction in the melanin-producing cells called melanocytes. Just like many human genetic diseases, there is no cure for albinism or ways to make an albinistic person normal. However, there are ways to alleviate the symptoms of albinism so that the quality of life of an affected individual improves.

Albinistic people lack the pigment melanin which protects skin cells from the damaging effects of sunlight. They should minimize their exposure to the sun and use sunscreen to prevent premature skin aging or skin cancer. UV proof clothing and swimsuits are also available for albinistic people to reduce the excessive use of sunscreen products.

To allow the best possible development of the eyes, ophthalmologists recommend the use of glasses from early childhood. Older children can use bifocal glasses to improve their vision. Special reading glasses and contact lenses are also available for people with albinism.

To manage photophobia or sensitivity to light,                 ophthalmologists prescribe the use of dark glasses that shield the eyes from bright light.

For affected children with esotropia or “crossed eyes”, a medical surgeon can operate on the eyes to expand the visual field or the area that the eyes can see while looking at one point. Usually, the surgery is performed when an affected child is only 6 months old, before the eyes developed fully.

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Nystagmus or the involuntary movement of the eyeball is another symptom of albinism that can be treated with surgery of the eye muscle. The surgery reduces the movement of the eyes but it may not improve vision because of other associated eye abnormalities like defects in the retina and optic nerves.

One of the hardest things to treat is the social and cultural stigma to albinism. It is hard to treat millions of brains that think of albinistic people as “cursed”, “freaks”, “maladjusted”, “undersocialized”, and “evil”. In some eastern African countries, especially Tanzania, human albinos are hunted and killed for their highly priced body parts, which are used by witchdoctors to make “magical potions” that promises wealth and good luck to those who will consume them. This is a barbaric act that should be stopped.[ad#afterpost]

Symptoms of Albinism

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Albinistic man portrait, Image from Wikimedia CommonsAlbinism is a rare genetic disorder characterized by a partial or complete absence of pigmentation in the skin, hair, and the eyes. The condition was first discovered as a disease by Sir Archibald Garrod, an English physician. Albinism is caused by a genetic mutation affecting an enzyme involved in the production of the pigment melanin. Albino people have extremely light skin and hair. They are sensitive to sun exposure and are at increased  risk of developing skin cancer.

The symptoms of albinism are detected as early as a child is born. The symptoms can be observed in the skin, hair, and the eyes. Below are the symptoms of albinism.

  • The skin pigmentation of  infants born with albinism does not change even if they grow up. Melanin production in normal infants may begin or increase during childhood and adolescence resulting to slight changes in their pigmentation.
  • When the child is exposed to sun, he or she could develop freckles, freckle-like spots, and moles (with or without pigment). The skin can also be tanned by the sun. An albino person should minimize his exposure to the sun to avoid developing skin diseases. Melanin, which an albino lacks, protects the skin cells from the damaging effects of the sun.
  • The hair color of individuals with albinism ranges from very white to brown. Albinos born with Asian or African descent may have hair color that is yellow, reddish, or brown.
  • The eye color of people with albinism ranges from very light blue to brown and may change with age. Albinos have little pigmentation in the irises of their eyes. As a result, the irises may not completely block light from entering the eye.
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  • Albinos have the condition called nystagmus, which is the rapid involuntary back-and-forth movement of the eyes.
  • Strabismus or lack of coordination between the eyes is also a symptom of albinism. A person with strabismus has eyes that look in different locations and do not focus at the same time on a single point.
  • Extreme farsightedness or nearsightedness can also be observed in an albino person.
  • Photobia or light sensitivity is a common symptom of albinism.
  • Astigmatism is another eye disorder observed in people with albinism.
  • Caucasian parents may not easily detect albinism in their new born child based on skin and hair color. The best way to detect albinism is to observe nystagmus in your child’s eyes. As mentioned above, it is the rapid  involuntary back-and-forth shifting in the eyes.
  • If you observe any of these symptoms of albinism in your child, visit your doctor and let him/her check your child.


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References

Normal Platelet Count and the Causes of Low and High Platelet Count

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Blood Platelets and their Functions

Platelets or thrombocytes are the smallest cells in the blood and designed for one important purpose – to initiate the process of coagulation, or blood clotting, whenever a blood vessel is broken. As soon as a vein or artery is broken, the platelets in the broken area begin to clump together and stick to the edges of the cut. In other words, the platelets work together to seal the injured area of the blood vessel to prevent bleeding.

The platelets also initiate the transformation of the plasma protein fibrinogen into fibrin, a long sticky protein that works with the platelets in creating blood clot to the injured area of the blood vessel. Moreover, the platelets release chemical messengers that initiate constriction of the blood vessels to reduce bleeding. The chemical messenger also attracts other platelets to the broken part of the blood vessel to assist in blood clotting.

By reducing and stopping blood loss in the event of blood vessel injury, blood platelets are important to human survival.                Diseases associated to platelets and blood clotting are deadly. It is therefore important to monitor the health of the platelets by ordering laboratory tests such as Platelet Count and Mean Platelet Volume (MPV).
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What is Platelet Count Test?

Platelet count test is a part of a regular Complete Blood Count (CBC), a panel of laboratory tests that examine different components of the blood such as white blood cell (WBC) count, red blood cell (RBC) count, or mean platelet volume (MPV). Platelet count is a measure of the number of platelets in a given sample of blood. The test result is interpreted by a doctor to determine if a patient has bleeding disorders, bone marrow diseases (e.g. leukemia), and other health problems.

Platelet count test is also ordered by the doctor if a patient has unexplained bruises in his/her body and it takes an unusually long period of time to stop bleeding from a small cut or wound in the skin.

What is Normal Platelet Count?

Normal platelet count ranges from 150,000 to 450,000 platelets per microliter (X106/L) of adult blood. Platelet count that falls below 20,000 per microliter of blood can cause spontaneous bleeding which is life-threatening. There are different reasons why platelet count decreases (thrombocytopenia). One of these reasons is leukemia or cancer of the bone marrow. The bone marrow is the site of production of new platelets that would replace old and used platelets. Therefore, no new platelets are produced if normal bone marrow cells are transformed to cancer cells.

Decrease in platelet count does not only indicate leukemia but can also indicate underlying health conditions which are discussed below.

What Causes of Low Platelet Count?

  • Low platelet count (thrombocytopenia) is observed in patients with long-term bleeding problems like chronic stomach bleeding due to ulcer.
  • Decline in platelet count is seen in patients with gram-negative sepsis.
  • Low platelet count is also observed in patients with lupus erythematosus, a rare autoimmune disorder characterized by the production of antibodies that attack the patients’ platelets and other tissues and organs of their body.
  • Decreased platelet count is observed in cancer patients who undergone chemotherapy and radiation.
  • Certain drugs were found to lower platelet count such as acetaminophen, valium, digoxin, sulfa drugs, nitroglycerine, quinidine, and among others.
  • Sequestration of platelets in the spleen decreases the number of platelets that circulates around the body.
  • Platelet count decrease is observed in kidney diseases that cause thrombocytopenic urea and hemolytic uremic syndrome.
  • Women could have low platelet count before their menstruation.

What Causes High Platelet Count?

  • Increase in platelet count or thrombocytosis has been observed in people who don’t have any health problem. However, some people with platelet count increase could have disorders like myeloproliferative disorder, a bone marrow disease in which excess cells are produced.
  • There is an increase in platelet count after undergoing splenectomy or spleen removal.
  • Reactive thrombocytosis due to inflammatory diseases such as rheumatoid arthritis and inflammatory bowel disease could cause high platelet count.
  • Estrogen and oral contraceptives could cause high platelet count.
  • Living in high altitude can increase an individual’s blood platelets.
  • Heavy exercise also causes blood platelets to soar up.
  • People who have increased platelet count can still experience bleeding problem if their platelets do not stick together to create a blood clot that will plug a broken blood vessel.
  • Unregulated blood clotting and increase in platelets could result to throboembolism, wherein a blood clot blocks the flow of blood in a blood vessel. Thromboembolism in blood vessels that supply blood to the brain and heart muscles can cause death.

Disclaimer

The information provided in this article should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical doctor should be consulted for diagnosis and treatment of any and all medical conditions.[ad#afterpost]

References

Platelet Count – Laboratory Test Online – American Association For Clinical Chemistry

Platelet Count – Medline Plus Medical Encyclopedia – National Institute of Health Website

Interpreting MPV Blood Test – What’s Normal Mean Platelet Volume?

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MPV or Mean Platelet Volume blood test is a part of a regular Complete Blood Count (CBC), a panel of tests that examine different components of the blood. MPV blood test uses a machine to measure and calculate the average size (by volume) of the platelets. MPV is usually interpreted with platelet count, or the number of platelets in a given volume of blood. There is a normal range for the values of mean platelet volume as well as platelet count. Any increase or decrease to the numerical values may indicate underlying health conditions. So what is a normal mean platelet volume?

Normal Mean Platelet Volume

The normal range for MPV is 7.5 to 11.5 femtolitre (1 femtolitre is equal to 1 cubic micrometer). Anything below 7 or over 12 may indicate that there is something wrong with your platelets especially if your platelet count is also not within the normal range of 150,000 to 450,000 platelets per microliter (X106/L) of adult blood. New platelets produced by the bone marrow are usually larger than older ones.

A very low MPV and platelet count can be an early indication of leukemia, a bone marrow cancer that affects the production of red blood cells and blood platelets. Shortage of platelets can cause you a bleeding problem whenever you have damage to your epithelial tissues, structural proteins that line your blood vessels, organs, and skin.

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Blood platelets circulate around our body to fix damages to our blood vessels (arteries and veins). For example, if we have a cut in a portion of our skin, platelets work by creating a clot to the damaged epithelial tissue to prevent the further escape of blood. Without normal platelets around, we could bleed to death. Indeed, platelets are important component of our blood; therefore, knowing the status of their health is a necessity.

The best person who could interpret the result of your mean platelet volume (MPV) and the other results in your complete blood count (CBC) is your doctor. Doctors are trained to interpret laboratory test results. Don’t try to interpret the results yourself because blood work often has false positive and negatives based on different factors. So when you see your MPV is too low or too high, don’t overreact without asking your doctor first.

Disclaimer

The content of this article is not a substitute for professional medical advice. Please consult your doctor before taking any action suggested in this article.[ad#afterpost]

Reference

Complete Blood Count from Laboratory Tests Online by the American Association for Clinical Chemistry

Causes and Home Remedies for Metallic Taste in Mouth

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Mouth_illustration, Image from Wikimedia CommonsMetallic taste in mouth or medically known as dysgeusia is an alteration or distortion of the sense of taste in which an individual feels like there is something metallic inside his or her mouth. The foul taste could either be sour (acidic) or bitter (alkaline) that doesn’t go away even a person doesn’t eat anything. Most cases of metallic taste in mouth are not serious but the illness negatively affects the comfort of eating to people with the condition. It may temporarily reduce a person’s appetite. There are different causes of metallic taste in mouth which are discussed below.

To give you light on what causes metallic taste in your mouth, you better visit your doctor to examine you. Before you make that doctor’s appointment you might also want to check on the status of your health insurance. Most packages cover doctor’s fees at least partially. Ask your health or life insurance provider for more information on what you should be paying and what you will get in return. Your doctor will give you professional advices on how to treat your metallic taste in mouth. The best time to seek medical help is when the metallic taste in your mouth becomes persistent or doesn’t go away for many days.

Causes of Metallic Taste in Mouth

  • Aging – Taste bud number decreases with age affecting taste perception.
  • Mouth dryness – Inadequate amount or absence of saliva in the mouth causes mouth dryness, with metallic taste in mouth as a consequence. The saliva is important in taste perception because it distributes food molecules into the taste buds. Dry mouth is also associated to bad breath since saliva is involved in regulating mouth bacteria.
  • Fungal infection in the tongue or the mouth area – Fungi act negatively on the taste buds affecting taste perception.
  • Various medical conditions such as Parkinson’s disease, Bell’s Palsy, Sjogren’s syndrome, diabetes, gastro-esophageal reflux disease (GERD), jaundice, and others are associated to metallic taste in mouth.
  • Injuries to the mouth, nose, or head resulting to the damage of nerves that relay taste information in brain centers.
  • Chemotherapy or radiation treatment can also cause metallic taste in mouth.
  • Certain medications such as anti-thyroid drugs, antidepressants, antibiotics (e.g. Flagyl), zinc preparations, neurologic drugs, and others could also cause metallic taste in mouth as a side effect.
  • Dietary ketosis caused by high protein diet has been associated to metallic taste in mouth.
  • Leakage of metals such as gold, silver, and mercury from dental fillings can cause metallic taste.
  • Bleeding in the gum due to gingivitis can also cause metallic taste in mouth because blood hemoglobin contains iron metals.
  • Deficiency to certain vitamins like Vitamin 12 and minerals like zinc.
  • Illnesses that affect the sense of smell such as nasal infection, nasal polyps, sinusitis, flu, cold, etc. can cause metallic taste in mouth. It is because the sense of smell is needed for a normal taste perception.
  • Metallic taste can also be an indication of copper toxicity, mercury poisoning, lead poisoning, and selenium overdose. Note that metal poisoning needs immediate medical attention because it can be fatal.
  • Steel welders and workers in brass foundries reported metallic taste in mouth.
  • Heavy smoking is also linked to metallic taste in mouth since tobacco contains metal residues.
  • Head and neck cancers affecting important nerves.
  • Copper ions from copper cookware and copper pipes can leak into food and drinking water respectively. This will result to copper taste in mouth. Note that too much intake of iron (iron overload) can cause health problems.
  • Drinking unfiltered underground water can also cause metallic taste in mouth because the water contains trace metals such as calcium and magnesium.

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When to Seek Doctor’s Help?

Note that any medical illness or disease can not be treated without first knowing its root cause. Let your doctor examine you. The doctor will ask you few questions that could help him in diagnosing the cause of your illness. What questions would you expect in your visit?

  • Do you smoke?
  • Do all drinks and foods taste the same?
  • How long has the metallic taste lasted?
  • Does the metallic taste affect your ability to eat?
  • Do you have any problem with your sense of smell?
  • Have you recently changed the brand of your mouthwash or toothpaste?
  • Have you been ill or injured lately?
  • What drugs or food supplements do you take?
  • Besides from metallic taste, do you notice other symptoms like breathing problems?
  • Do you have gum problem, tooth decays, and dental plaques? When is the last time you visited your dentist?

Home Remedies for Metallic Taste in Mouth

If the metallic taste is bothering you, here are soem home remedies that will give you temporary relief from metallic taste:

  • Counter the metallic taste by consuming citrus juices, lemonade, and other sour substances (e.g. vinegar). Sour substances stimulate salivation which facilitates washing away of the metallic taste. You need to salivate especially when your mouth is dry.
  • Try rinsing your mouth with a salt solution containing a teaspoon of table salt and eight ounces of water. You can also use baking soda, but dissolve only ¼ teaspoon.
  • Eat small portions of raw condiments such as clove and cinnamon. Doing so can give you temporarily relief from metallic taste.
  • When you brush your teeth, make sure to brush the tongue area. This can help lessen the metallic taste in your mouth.

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References

Taste Impairment – NIH WebsiteA Bad Taste In Her Mouth – Dr. Rob of MSN Health & Fitness

Causes, Treatment, and Survivors of Mermaid Syndrome – A Fatal Birth Defect

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Mermaid syndrome, also known as sirenomelia, is a rare congenital birth defect in which an infant’s legs are fused as one. The fused legs resemble that of the lower limb of a mermaid, a Greek mythological character that has a head and upper body of a woman, and the tail of a fish.   What makes mermaid syndrome fatal before or immediately after birth is the incomplete development, malformation, or absence of vital organs in the infant’s body.

The frequency of babies born with Mermaid syndrome is 1 for every 70, 000 births; this statistical data shows that Mermaid syndrome is such a very rare birth defect. Interestingly, of the thousands of babies born with Mermaid syndrome, only 300 of them has been reported alive after birth. Moreover, out of these 300 alive babies, majority of them die few days after birth because of fatal complications as a result of deformation or total absence of vital organs such as kidneys and bladder. The uterus, vagina, urinary tracts, genitals, anal opening and other parts of the lower body may be missing or being misplaced.

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How Mermaid Syndrome is Developed?

Mermaid syndrome develops in the early period of fetal development due to a malfunction in the circulatory system of the fetus. The lower limbs and some caudal organs (e.g. kidneys, bladder, genitals) did not fully developed because they are deprived with adequate supply of oxygen and nutrients. There is low or blocked blood flow in the blood vessels going to the lower region of the body; hence, the lower limbs and organs did not develop completely.

Causes of Mermaid Syndrome

Scientists could not yet explain what initiates the development of Mermaid syndrome but they have proposed various hypotheses:

  • The birth defect can be a result of an illness suffered by the mother or the fetus during pregnancy.
  • The expectant mother may have rendered poor prenatal care by drinking alcohol, using narcotics, bad nutrition, smoking, etc.
  • Mermaid syndrome can also be the result of the mother’s exposure to radiation and other environmental agents that caused mutations of genes involved in the normal development of the fetus.
  • Spontaneous mutations or naturally occurring mutations in the fetus may have also caused the birth defect. This explains why Mermaid syndrome incidences have occurred as isolated cases in families.

More researches are needed to find out whatever the genetic, biological, or environmental cause of Mermaid syndrome.

Treatment of Mermaid Syndrome

If the two legs were only fused through the skin and the three main bones are fully and correctly formed, surgery is used to separate the two legs. However, successful separation of the fused legs does not guarantee that the child will be able to walk normally. The child can survive as long as the vital organs are complete and fully functional.

In severe Mermaid syndrome, the two legs are completely joined, appear tapered, and are poorly formed.  One of the three major bones may be missing and there is complete absence of foot structures. Defects in internal structures can also be observed through medical tests and x-rays. Infants having severe Mermaid syndrome have little chance for survival.

As mentioned earlier, the fused legs are not the main cause of death for babies with Mermaid syndrome; it is the absence or deformity of important internal organs such as the kidneys. Successful organ transplants are needed to save the babies.

Mermaid Syndrome Survivors

Babies born with Mermaid syndrome alive usually last for days even though surgeries and organ transplants were performed to them. However, medical mysteries do happen as three females were able to celebrate their birthdays. These three female survivors of mermaid syndrome are Shiloh Pepin of Maine, USA, Tiffany Yorks of USA, and Milagros Cerron of Peru.

Shiloh Pepin was born on August 4, 1999 but died on October 23, 2009 due to a serious case of pneumonia. Shiloh was born with missing uterus, bladder, and vagina and her colon is only 6 inches long. She has only one ovary (instead of 2) and one quarter kidney. Her legs is fused but did not undergo surgery to separate them. Pepin has successfully survived multiple operations at her ten years of existence, including two successful kidney transplants. She has appeared in the Oprah Winfrey show and other television programs. As a result of her exposure to media, she raised people’s awareness and understanding to Mermaid syndrome. Pepin will always be remembered by people who were touched by her story.

Tiffany York, born on May 7, 1988, is the longest living Mermaid syndrome survivor. Besides from having fused legs, she was born with missing bladder so she underwent bladder transplant which turned on to be successful. Her legs was later on separated (at the age of 26) but until now she has difficulty walking because her legs are very fragile; she depends on wheelchair and crunches for movement.  Like Shiloh Pepin, Tiffany has undergone various operations too.

Peruvian Milagros Cerron, born April 27, 2004, was the daughter of poor couple from the Andes Mountain of Peru. She was born with fused legs that were separated successfully on February 8, 2005. She has a deformed left kidney and a small right kidney located very low her body. Moreover, her urinary and digestive tracts as well as genitals, share a single tube. Milagros (Spanish for ‘miracle’) was traumatized by her surgical operation to separate her fused legs but she is recovering with the help of her parents. The City of Lima has pledged to pay many of Milagros’ operations. The city has also provided a decent job for Milagros’ father in the city.
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Pictures of Mermaid Syndrome

Shilo pepin, Image from Wikimedia Commons
Another Photo of Shiloh Pepin
Milagros cerron, Image from Wikimedia Commons
Milagros Cerron

Shiloh pepin, frm Wikimedia
Shiloh Pepin