11-beta-hydroxylase deficiency

11-beta-hydroxylase deficiency, also known as congenital adrenal hyperplasia (CAH), is a rare condition that causes the adrenal glands superior to the kidneys to produce excess hormones.  The hormones that are produced in excess are particularly androgens, or male sex hormones.  Both females and males normally produce androgens; however, females produce them at a significantly lower level.  this disorder, however, can affect both men and women equally.

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Males with CAH produce external male genitalia normally, however they are higher levels of androgens.  Females, on the other hand, have ambiguous external genitalia, which is a mix of male and female genitalia.  Internally,females are normal in terms of female reproductive organs such as ovaries, fallopian tubes, and a uterus.  Both males and females often begin puberty at an earlier age than most other children, but growth spurts occur much later in puberty.  This causes the growth plats to have a chance to close which prevents individuals with CAH from growing tall.  One oddity that occurs within the first year of life in most individuals with 11-beta-hydroxylase deficiency is a increase in blood pressure to the point of high blood pressure.

Congenital adrenal hyperplasia is a condition caused by a genetic mutation where both parents have to pass down the autosomal allele for the child to have the disorder.  Research has been conducted in this specific area of disorders and scientists have been able to identify the specific gene responsible for the disorder.  CYP11B1 is the mutated gene in individuals with the disorder.  With research such as this, a cure is even closer to reality than if the gene was unknown.  Since the gene is not a mystery, embryos can be tested for congenital adrenal hyperplasia before they are born.  This gives parents the heads up to the condition of the fetus, which can present them with a difficult decision.  If they choose to continue with the pregnancy, they realize that the individual will have ambiguous external genitalia, which could inhibit the possibility of predicting the sex of the baby pre-birth.

There are many other symptoms of congenital adrenal hyperplasia than just hypertension within the first year after birth.  For the more common symptoms, individuals often have an abnormal rate of hair growth, abnormal menstrual cycles (for females only), decreased circulating renin (regulating blood pressure by changing osmolarity), delays skeletal maturation, and finally enlarged polycystic ovaries (for females only).  Although these symptoms might seem manageable, people with congenital adrenal hyperplasia live with the constant thought process of “what if someone finds out the truth about me.”  This can be a source of not only anxiety among teens, but also additional stress that is most definitely not needed in individuals.  Consider the event of a romantic relationship, especially for the first time.  Someone with congenital adrenal hyperplasia would be extremely anxious on what their date would think about them, especially if they are the female.

There is research in progress for CAH, and there is potential for a cure in the near future.


Progeria, also known as Hutchinson-Gilford progeria syndrome, is a very interesting disorder because not only is it progressive, but it gives the appearance of aging.  As you can see in the image below, you can see the individual in the center seems older and has distinct symptoms; however, the background will hint that the individual is a child on the inside interested in playing with legos and other childhood toys.Image result for progeria

The disease is most often characterized by the early onset of extreme aging, but they seem normal at birth.  The individuals with with Progeria do not grow like most other children do, which often leads to the more well known characteristics.  They often have protruding ears, eyes that are very close together, and comparatively small chins.  There are no intellectual difficulties when individuals have the disorder, nor any decrease in motor function of any kind.

One side effect of the disorder is early onset of atherosclerosis.  Atherosclerosis is the hardening of arteries when plaque builds up.  This plaque then attracts various aspects of the individual’s immune system, such as macrophages, which build up and cause the plaque to grow in side.  In severe cases, the plaque can grow to decrease blood flow to the extent of cutting flow altogether.  This is when a heart attack can occur.  If the clot is dislodged and moves throughout the body, the clot can get stuck anywhere causing other medical emergencies such as pulmonary vein thromboses or even pulmonary embolisms to name two.

This disorder is autosomal dominant, which means the individual will become affected if only one parent gives the allele.  Even though it only requires one parent’s allele, it is still extremely rare; only about 1 in every 4 million newborn children have the disorder.

Sadly, individuals with Progeria do not have a long life span.  Due to the early and severe development of atherosclerosis, individuals usually do not live past approximately 13 years.  One cause of death that you would assume from atherosclerosis is a heart attack.  Depending where the hardening occurs, a stroke can also occur causing death.  There are some cases, however, where individuals with the disorder prove the life expectancy wrong and live past 13, sometimes even past 20 years of age.  In these rare cases, the individuals are studied in ways with the hopes of making progress in the treatment and possibly a cure.

Currently, there is no cure for progeria.  The best thing for individuals with progeria is medicine to prevent atherosclerosis.  This works to help extend the lifespan by slowing down the buildup of plaque in the arteries and their hardening.  Such drugs often include statins to reduce cholesterol, or anticoagulants such as Coumadin or Warfarin to prevent the blood from clotting.

Other than specific medications, there are no specific restrictions of lifestyle required.  The only aspect close to a restriction is consuming smaller meals in higher frequencies.  This is typical for a young child, and since development is slow for individuals with the disorder, the same type of meals are best.

Apert Syndrome

Acrocephalosyndactyly type I (ACS1), the scientific name for Apert Syndrome, is a congenital genetic disorder where the bones in the skull fuse prematurely.  When this occurs, the rest of the body develops abnormally in specific patterns.  The eyes bulge, and the eyelids tilt downward at the ends away from the nose.  The face has an abnormal appearance with a sunken-in appearance, the upper jaw slopes backward, and the lower teeth project in front of the upper teeth.  This is classified as an underbite.  Finally, the hands and feet are webbed, sometimes including the fusion of finger bones, toe bones, and joints of fingers and toes.Image result for Apert syndrome

More problems begin to arise when the brain continues to develop after the skull is already fused.  This is why the head becomes distorted as brain creates pressure within the skull.  Since there is nowhere for the brain to go, it presses outward on the most thin areas of the skull, causing deformations.  The interesting thing about this disorder is that it is caused by a mutation.  Estimated calculations show that approximately 95% of all cases are caused by these random mutations.  The other 5% is actually due to a heritable autosomal dominant trait.  This means that if a single allele from the mother or father is passed down, the individual will have the disorder.  That is the typical method of an autosomal dominant disorder.  Apert Syndrome is very different because the dominant allele only causes the disorder 50% of the time.

Sometimes the diagnosis Apert syndrome is extremely difficult because there are other disorders such as Carpenter syndrome, Crouzon’s syndrome, and Jackson-Weiss syndrome to name a few that have very similar if not exactly the same symptoms.  They are all very rare, which makes the diagnosis even more difficult.

One amazing advancement for identification of this disease actually occurs pre-birth.  There are a few tests that doctors can conduct as the fetus develops in the embryo to identify the disorder.  If the results are positive, the mother has the option to abort, given all of the information by the doctor.  After birth, there are other DNA tests, along with CT scans that can detect the fusion of the skull.  This gives insight to the syndrome, and the family has treatment options after the diagnosis.

There are various treatments that individuals can undergo, and it all depends on the symptoms.  The difficulty that arises with this is the doctors are treating the symptoms, not the disorder.  Of the treatments available, they all include some form of surgeons that treat disorders of skeleton, joints, muscles, and related tissues; these are also known as orthopedic surgeons.  Due to the possibility of heart problems, such as holes developing in the heart, cardiologists are often needed.  Finally, otolaryngologists are needed to treat the ear, nose, and throats of individuals.

There are obvious difficulties that arise when these individuals have to interact in society; however, people are becoming increasingly tolerant and accepting of the abnormalities.  Often, people are extra nice to individuals with the syndrome.  Although this might seem like a special treatment, people are just trying to act kindly.

Creutzfeldt-Jakob Disease

Creutzfeldt-Jakob Disease, or CJD, is a rare degenerative disorder that is fatal to the brain.  It is extremely rare that only about 1 in every million people develop the disorder.  The sad aspect about this disease is it is not detected until later in life, but once the symptoms are presented there is only about a 10% chance of living past one year.

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This symptoms for CJD span over a very wide spectrum.  Some of the possible symptoms are blindness, weakness of the extremities, and even a coma.  All of these symptoms are due to the degenerative nature of the brain that causes pronounced and involuntary movements.  These symptoms often come later in the disease, which meas there are other symptoms that come earlier.

The symptoms that occur earlier in the disease are more minor symptoms such as behavioral changes, failing memory, lacking coordination, and lacking visual disturbances.  There can be many other diseases that present these symptoms, which makes diagnosis of the disease extremely difficult.

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There are a few causes of the diseases that are known.  First there can be absolutely no cause.  This is in fact the most common “cause” to CJD.  There are no signs or symptoms early in life that can lead to an early diagnosis.  Other causes for the disease are from parents, or heredity.  This only accounts for 5-10% of cases; however, there can be tests that come up positive for a genetic mutation associated with CJD.  The final known cause for CJD is transmission.  This can only occur when the brain tissue or central nervous system tissue is contacted with an uninfected individual.  Such cases arise when a doctor or nurse is prepping an individual for surgery, or conducting the actual surgery.  Furthermore, if the cause of death to a person is unknown, an autopsy can cause the spread of the disease to the coroner or medical examiner.

The absolute worst part of the disease is the lack of a definitive test.  Like I said previously, when the first symptoms present themselves, the symptoms can be caused from a very wide variety of diseases and disorders.  The only definitive way to conclude the diagnosis of CJD is a brain biopsy or autopsy.  Obviously, an autopsy requires the individual to be deceased, which makes diagnosis and treatment slightly difficult.  Then of course, there is the difficulty that arises from a brain biopsy.  Not only does the doctor need to be sure to take a part of the brain that wont affect functionality of the individual, but they must also be sure that they get a specimen from the infected area of the brain.  There is no visible physical difference in living tissue of the disease, which makes everything significantly more difficult to detect.

There is luckily research being conducted in this area because there is no treatment or cure as of now.  Therefore any money donated to this type of research is extremely important and could lead to incredible discoveries for the disease.


Mucopolysaccharidosis is a metabolic disorder that prevents the breakdown of glycosaminoglycans, a group of molecules that I will later describe.  These molecules cannot be broken down because the disorder causes either the formation of malfunctioning lysosomal enzymes, or an absence of such enzymes all together.  This rare disease prevents individuals from breaking down and recycling very important materials inside the cells.  If an individual is born with the disorder, they will look like the individual in the following image.

The reason that individuals with mucopolysaccharidosis (MPS) look like this is a malfunction in their connective tissue.  The long chains, glycosaminoglycans, which are complex carbohydrates are unable to serve their purpose.   These molecules help build bone, cartilage, tendons, corneas, skin, in addition to connective tissue.  This causes all of the aforementioned areas of the body to develop incompletely.

Since the glycosaminoglycans are not broken down, every cell in the body has to store these molecules which can have extremely negative effects on individuals.  In fact, these molecules accumulate and cause even worse effects in the heart, joints, respiratory systems, and nervous systems.  The difficult with this disorder is that there are no signs or symptoms at birth.  The individual develops normally, or so it seems, until the levels of glycosaminoglycans build up in the cells to cause damage and noticeable changes.

The symptoms of this disorder cover a broad range of areas.  Individuals can have mental retardation, hearing impairment, speech impairment, cloudy corneas, stiff joints, short stature, incontinence, chronic runny nose, hernia, hyperactivity, depression, heart disease, pain, and worse of all, a significantly shortened life span.

Luckily, the disorder can be tested and if the baby is born, treatment is available since no cure currently exists.  During pregnancy, amniocentesis and chorionic villus sampling can be performed between certain intervals to test the genetic composition of the developing fetus.  If you didn’t guess, this disorder is genetic, more specifically autosomal recessive.  This means if both parents are carriers for the disease, there is a 25% chance that their child will have the disorder.  In the entire country, there are approximately 1 in every 25,000 births positive for the disorder.

Since there is no current cure, scientists are attempting to develop as many variations of treatment as they can to help work their way to the cure.  Although this is an extremely difficult endeavor, progress is being made.  The only “cure” for now is carrier detection before conceivement and detection in the developing fetus.  As for treatment, gene therapy is looking extremely likely because the field of gene therapy is growing exponentially.  Not only would this disorder be significantly aided with developments in gene therapy, but so would hundreds or even thousands of other diseases and disorders.  This means investing in gene therapy could help a large number of people not only in this country, but also in the world.

Everybody should do what they can to help the fight against any disease and/or disorder that they can.  Research is lighting up the path for the future, and the only obstacle that researcher run into is lack of funding.  Therefore, if anyone has any change whatsoever, it is never a bad idea to donate to any disease or disorder foundation because you can be sure the money is going somewhere good.

Marfan Syndrome

Marfan syndrome, also referred to as MFS, is genetic disorder that affects connective tissues in infected individuals.  This connective tissue is found throughout the entire body, and often leads to problems later in life.  This connective tissue can be seen when examining the heart, blood vessels, as well as bones.  The connective tissue in bones is the most visible symptom of Marfan syndrome, as you can visualize in the image below.  Bones in individuals affected by MFS have abnormally long bones, which gives them abnormal height, and an abnormal arm span.

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Interestingly enough, there are multiple accounts of individuals claiming that Abraham Lincoln had MFS.  If this is true, it will help those who are affected by the disease have more confidence that they can function normally in society.  Lincoln was able to put this disease behind him, as if he was forgetting about it, in order to continue with his life.  One of the main differences between the disease now and the disease in Lincoln’s time is its popularity.  More people know about the disease now, and can categorize the symptoms as marfan syndrome.

This leads into an entirely separate, yet important, aspect to rare diseases – public opinion.  When people see “oddities” in society, they often have the inclination to avoid or ignore those that are “strange” to them.  This, seemly innocent action for unaffected individuals, can be extremely hurtful and cause a plethora of psychiatric issues.  Getting ostracized from society has extremely negative effects on individuals, especially when it is not wanted.  Some people enjoy, even prefer, being alone; however, it is wrong to just assume that the people with rare diseases feel the same way.

The disease, as previously stated, is a decrease in connective tissue in the body.  This occurs when an individual’s DNA is mutated for a specific gene and causes the malformed protein fibrillin-1.  Since this is a genetic mutation, about 3 in every 4 people that have MFS are children to parents of those of who also have Marfan Syndrome.  According to genetics, if an individual is positive for Marfan syndrome, there is a 50% chance that they will pass the mutated gene on to their child, who will then develop the syndrome.  This may or may not discourage parents from having children if they are positive for Marfan Syndrome.  There are many diseases that cause parents to question whether or not they should have children, and this syndrome is just another name to that list.

Of all of the Marfan Syndrome, aortic enlargement is by far the most dangerous.  This is when the main artery that carries blood directly away from the left ventricle of the heart to the body.  The artery itself runs from the heart, around the top, and then descends through the abdomen and splits around approximately the belly button.  At any point along the ascending or descending aorta, enlargement or bulging can lead to an aneurism, which is life threatening almost instantly.  This is why diagnosis and treatment of MFS is important.

Click here for more information on this disease.

Werewolf Syndrome

No, this disease is not actually called werewolf syndrome; however, if you take a look at this picture you might think it should be.

This disease, known as hypertrichosis, causes excess hair growth all over the body of the individual.  As you can see by the picture, “all over” is taken quite literally.  this disease occurs in both males and females; moreover, the cause is unknown.  Many people believe there is some genetic aspect, if one parent has the gene for it, they will pass it down.  Others believe that it is a random mutation that occurs, at a higher frequency than most random mutations, and causes the symptoms that are categorized as hypertrichosis.

This disease actually became a fascination among society as the features and symptoms were almost “crowd-drawing” and “money-making.”  In fact, this may be the origin of the werewolf concept that has been in theaters and books longer than people can remember.  Over the years, people have referred to these people as animals, dogs, and other derogatory terms that have caused these people to often kill themselves.  This disease does not even have a specific name because people are hesitant on classifying the disease because the cause is unknown.

The actual diagnosis of this disease may seem simple; however, the contrary is true.  Excess hair growth can occur for a plethora of reasons; moreover, there is no definitive test that confirms hypertrichosis.  This means that people receive the same stigma regardless if they actually have the disease, and may undergo extreme ridicule for NOT having the disease.  Often, these people do not like going out in public because of the stigma attached to them.  Children look at them with a sense of fear, almost as if they are comparing them to the werewolves they have seen in movies.  They are frightened that these people, yes people, will attack and kill them.  The saddest aspect to this stigma is that it does not apply to just children.  Adults feel the same way against the infected people.  They are scared of them, and avoid them as often as possible.  Some accounts write that they would rather exert any other effort just so they can avoid contact or even closeness to the person.

This disease is on its way on being cured; however, it is taking significantly longer than expected.  The newest research claims that it is associated with the X sex chromosome, which is in both male and female humans.  This is just another sex linked disease that can be added to the list if this discover is confirmed.  Furthermore, research is extremely difficult because there are different types of hypertrichosis.  Based on the type of hair present on the person, doctors have the potential to determine which part of the disease they have and possible prevent both symptoms and death.

This is a rare disease that will most likely be treated, or even cured in the future, but until then there will most likely be hate against this group of individuals who cannot help their appearance.


Tea In All Its Forms

Tea is one of the most common drinks shared among different cultures.  Within each of these distinct cultures, individuals have their own practices of flavor and temperature.  For this post, I want to briefly explore some of the ways people use tea, and how it acts as a civic artifact in bringing people together.


Image result for tea leavesTea is not a complicated drink.  In fact, it is one of the most easily produced drinks.  Once you collect leaves from specific plants, you then cure them.  This curing process can take a very long time; however, the reward at the end is almost always worth it.  Once the leaves are cured, or dried, one can pour boiling water over the leaves.  This activates the leaves to release their flavoring, giving the water a different smell, taste, and even color.

Once the tea is steeped, the personal preferences really take control.  You can sugar in any of the dozen different forms, you can add milk, cream, or half and half to change the color and flavor.  Everything that you add to the tea at this point is used to enhance the already powerful and delicious flavor of the tea.  Furthermore, more advanced tea makers incorporate different blends of teas into their drink to create a more complex flavor.

One of the words that I have repeatedly used is flavor.  Flavor is not a single sense; in fact, it is broken down into two specific senses: taste and smell.  When both of these senses are stimulated, the brain combines the two signals to project a single depiction – flavor.  Therefore, it is important that the tea not only has amazing taste, but also delicious smells.

Green tea is one of the most popular teas.Image result  The tea itself comes from Camellia sinensis leaves that are classified at a stage similar to “immature”.  One of the reasons that green tea is increasingly popular is due to its various positive effects on the human body.  It is excellent for the brain; it increases the working memory aspect to the brain, as well as helps inhibit the formation of plaques that eventually lead to Alzheimer’s disease.  Moving away from the brain, the rest of the body is positively affected due to the glycemic regulation that green tea creates.  Furthermore, the catechins  in the tea help lower cholesterol and blood pressure.

The benefits from drinking just green tea are clearly positive, and it isn’t that difficult to find tea.  There are so many different types of green tea, all for different prices.  So there should not be any worry that you cannot afford tea.  On campus, especially, there is tea almost everywhere.  If you go to a store, you can pick up iced tea.  If you eat at any of the dining halls, you can make your own hot tea.  If you do this, you can choose from a plethora of tea options, a few of them including green tea.  Never be afraid to try a different tea because you might be surprised you found your new and healthy best drink.



The Big Fat Dilla

I have always been crazy about mexican food; however, I never liked quesadillas.  I always felt there were flattened burritos that were sub-par.  It was not until this year that I was introduced into the deliciousness of the dish.Image resultIt never crossed my mind that this dish would contain the immense flavors of all other mexican dishes, in a flattened pancake so to speak.  I was able to experience this for the first time at the dining halls just a few weeks ago.  A friend of mine was working behind the counter at the mexican style restaurant.  I asked him for the best thing he could make me.  Instead of making me my usual burrito, he told me it would be a surprise.  After selecting all of the ingredients I wanted, he put it on the grill.  I was very confused at this point.  When he called my number, I had this plate of stuff in my hands.  I asked him what he made me, and he said it was a Big Fat Dilla.  Not a quesadilla, no.  A Big Fat Dilla.

From the moment I began to eat it, my eyes widened with extreme excitement.  This was one of the best mexican dishes I have ever had, and it was loaded with meat, vegetables, and flavor.  It would not surprise me if the invention of the quesadilla arose after people made a burrito and it somehow was flattened.  That is essentially what a quesadilla is.  The only difference is the quantity of cheese.  Again, it wouldn’t surprise me if the reason for the extra cheese was to act as a binding factor for the dilla.

Regardless on the motivation for its creation, it is definitely increasing in popularity around the world.  On a more local level, the quesadilla is also picking up speed.  In the beginning of the year, there were very few people that ate, or even knew that the dish existed.  Now, there is often a very long line that one must wait for someone to get their hands on this masterpiece.  This could be for a few reasons, other than its intense flavor.  First, the portability of the dish is advantageous for people that do not have time to dine in.  Second, this is a food that people can eat with their hands, so there is no need for any utensils, making the dish increasingly portable.  Finally, there is a versatility of ingredients just like a burrito, but now it it is warmed so the cheese is melted.

I personally enjoy my big fat dilla with chicken, black olives, rice, black beans, onions and peppers, and salsa.  Furthermore, I like to have sour cream, chipotle ranch, and guacamole on the side for dipping at my convenience.  Feel free to respond with some of your favorite add ins, and if you haven’t had a quesadilla just say what you would put in a burrito.  But more importantly, if you have not had a dilla yet, make sure you get one as soon as possible.  They are definitely something that should not be missed.

Soup for All

One of the most comforting dishes that you can ever make is soup.  The types of soup that are not only available to purchase, but also that you can make are limitless.  That is the true beauty of soup, you can make it your own.  Whether you are simply cold and want something warm to eat, or enjoy a specific flavor in your soup, you cannot go wrong with this staple of a dish.

There is no actual recording of the first time soup was ever made.  Honestly, the first soup probably arose as early as the first humans did.  The fact of placing various ingredients in a large container and adding water is not difficult.  In fact, its simplicity is most likely the reason there is no initial creation date.  Back then, whatever ingredients could be collected were placed into the soup (especially in the winter) because it was a nice way to incorporate a multitude of flavors and textures all in one dish.

Personally, my favorite soup is old fashioned chicken noodle.  The best part – it is super easy to make!  All you need are some carrots, celery, onions, butter, water, and chicken.  You can of course add various other seasonings, but these vegetables and chicken are the base of the soup.  You saute the vegetables in the butter until the onions become translucent.  This technique is called sweating.  Then, you add the water and chicken bones and bring the mixture to a boil.  Then the fun part: letting the pot simmer for a few hours.  After the soup seems flavorful enough, you remove it from the heat, remove the bones, and place it in the refrigerator.

If you did not know, soup always tastes best the following day (as long as it is refrigerated).  There is a simple explanation for this: the soup flavors join together to become more complex in their nature.  With time, the chemical compounds interact with each other, sometimes bonding in specific areas.  This can create, as said previously, a compound taste, which intensifies the flavor.  To better the soup, you cannot go wrong by adding noodles, potatoes, dumplings, or really any other vegetable or starch.

The base of the soup is almost always the three vegetables mentioned above: carrots, celery, and onions.  These three vegetables combined have been coined the name mirepoix.  This usually has the ratio of 1:1:2, respectively.  This mixture is excellent in creating a flavor base for soups, stocks, broths, sauces, and many other foods.  One additional benefit to these ingredients, in addition to their flavor, is the smell, or aroma, that are released.  Mirepoix has been used for centuries, and allows for a plethora of other flavors to accompany it.

Some other great flavors in soup include thyme, rosemary, oregano, and dill.  One must never forget to include some of the most important seasonings: salt and pepper.  The salt aids in removing water from the vegetables during their sweat and pepper acts as a taste bud opener for the consumer intensifying the flavor.  I am curious to know some of your favorite soups, so feel free to talk about them below!

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