#lb321

[dminerhps-blog]

Cartilage-hair Hypoplasia

Another day, another disease of the day! Today we are going to be talking about cartilage-hair hypoplasia. This is a bone growth disorder that is most prominently characterized by dwarfism, or short stature. People with cartilage-hair hypoplasia may also have other skeletal abnormalities, fine and sparse hair, and abnormal immune system function. This is a spectrum disorder which means that there is a range of conditions associated with the disease.

Starting with dwarfism, people with cartilage-hair hypoplasia often have very short limbs and a small stature, starting at birth. It is common that they will have malformations in the cartilage near the end of long bones such as arms and legs. Many people with cartilage-hair hypoplasia are very flexible in some joints but may have problems elsewhere, like extending their elbows. The malformation in this cartilage affects the development of the bone itself.

The hair of people with cartilage-hair hypoplasia is often lighter in color as well as much thinner than usual because some of the core of each hair is missing. This makes the hair look very sparse, unusually thin and very light-colored. It is possible that their skin may also be very light in color and have misshaped nails and dental abnormalities.

Abnormal immune system function is common in people with cartilage-hair hypoplasia. However, the extent varies from case to case. The more severe immune problems are categorized as severe combined immunodeficiency (SCID). People diagnosed with SCID have almost no immune protection from bacteria, viruses, or fungi. People with SCID often have repeated and persistent infections which can be serious or even life-threatening. For those who have cartilage-hair hypoplasia but not SCID, they may experience infections of the respiratory system, ears, and sinuses. Some people may even have autoimmune disorders which is when the immune system malfunctions and attacks the healthy tissues and organs in the body. People with cartilage-hair hypoplasia are also at an increased risk for developing various cancers.

All of the symptoms seen in cartilage-hair hypoplasia are caused by mutations in the RMRP gene. The RMRP gene does not code for a protein but rather a molecule called a noncoding RNA. This RNA attaches to several proteins which forms an enzyme complex called mitochondrial RNA-processing endoribonuclease (RNase MRP). This enzyme helps to copy the DNA that is found in mitochondria. It also processes ribosomal RNA which is required for assembling amino acids into functioning proteins. Lastly, this enzyme help to control the cell cycle which is how it replicates itself. Mutations in the RMRP gene will result in a noncoding RNA that is unstable. This means that it cannot bind to the proteins that it needs to in order to form the RNase MRP enzyme complex. This will interfere with its ability to carry out all of the important things that it does in the cell. This is what causes all the symptoms in people with cartilage-hair hypoplasia.

Cartilage-hair hypoplasia is an autosomal recessive inheritance pattern. This means that there needs to be mutations in both copies of the RMRP gene. This allows for some people to be carriers of the disease without showing symptoms.

Treatment is different for everyone based on the symptoms that the individual is displaying. Surgery may be needed to help individuals with significant cartilage and bone deformations. Surveillance is also important to make sure that serious damage is prevented where possible. For those who have immune deficiency, treatments include dealing with symptoms of infections as the person gets them. People with SCID may even undergo a bone marrow transplant.

Sources: https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia#,

https://www.ncbi.nlm.nih.gov/books/NBK84550/

[dminerhps-blog]

Achondrogenesis: 1A, 1B, & 2

Hey guys, we’re back with another disease of the day! Today we’re going to be talking about achondrogenesis. Achondrogenesis is an extremely dangerous disease that affects infants. Due to the severity of the condition, most infants die before or shortly after birth.

Achondrogenesis is a group of disorders that affect the cartilage and bone development. Infants with achondrogenesis usually die before birth or die soon after due to respiratory failure. It is rare that some infants live for a short time after birth. This is normally only with the help of medical support. The characteristics of achondrogenesis are a small body, short limbs, and other skeletal abnormalities. Achondrogenesis is usually diagnosed during pregnancy with further testing to distinguish between the three types. These different types are distinguished by the sign and symptoms.

The three types of achondrogenesis are type 1A, type 1B, and type 2. Type 1A and 1B are the more similar of the three. Type 1A causes infants to have extremely short limbs, narrow chest, short ribs, and a lack of normal bone formation in the skull and spine. The TRIP11 gene provides the instructions for the making of a protein called GMAP-210. This protein plays an important role in the Golgi apparatus. Mutations in the TRIP11 alter the GMAP-210 and therefore alter the structure and function of the Golgi apparatus. This is what could lead to problems with bone formation as commonly seen in type 1A.

Type 1B causes extremely short limbs, a narrow chest, and rounded abdomen. The fingers and toes are often short and the feet may turn in and upward. Type 1B is caused by mutations in the SLC26A2 gene. This gene is responsible for making proteins that aid in the development of cartilage and its conversion to bone. This is what causes the skeletal problems that is seen in type 1B. This mutation prevents bones from properly forming.

Type 2 causes short arms and legs, narrow chest with short ribs, and underdeveloped lungs. There is also a lack of ossification in the spine and pelvis as well as an enlarged abdomen. Facial features include a prominent forehead, and small chin. Type 2 is a combination of 1A and 1B and is caused by mutations in the COL2A1 gene. This gene makes a protein that forms type II collagen. This collagen is what is found in cartilage. Cartilage is essential for the development of bones and connective tissues that support the body. Without COL2A1 working properly, bones and other connective tissues do not form properly.

Achondrogenesis type 1A and type 1B have an autosomal recessive inheritance. This means that a person would need both copies of the TRIP11 or SLC26A1 gene in order to have the mutations. Achondrogenesis type 2 is an autosomal dominant inheritance because they only need one copy of the mutant gene. There are no treatments that can cure achondrogenesis. Rather, treatments focus on relieving pain. It is recommended that families affected by achondrogenesis seek genetic counseling.

Due to the sensitivity of this disease, I will not be including a picture of the characteristics. Achondrogenesis causes serious deformations and complications in infants. Achondrogenesis type 2 occurs in approximately 40,000 to 60,000 newborns.

Sources: https://ghr.nlm.nih.gov/condition/achondrogenesis#diagnosis, https://rarediseases.info.nih.gov/diseases/2882/achondrogenesis

[dminerhps-blog]

Why You Should Know the Signs of Marfan Syndrome

Time for another disease of the day! Today we’re going to be talking about Marfan syndrome. Marfan syndrome is a connective tissue disorder. Connective tissue is important because it provides strength and flexibility to various parts of your body including bones, muscles, ligaments, blood vessels and heart valves.

Marfan syndrome is caused by mutations in the FBN1 gene. This gene provides instructions for making the protein, fibrillin-1. This protein attaches to other fibrillin-1 proteins to form microfibrils. These become part of the fibers that provide strength and flexibility to connective tissue. Microfibrils also bind to growth factors and release them at certain times to control growth and repair of tissues and other organs throughout the body. A mutation in the FBN1 gene can decrease the amount of fibrilin-1 that is available which may lead to overgrowth and instability in tissues throughout the body. This condition is an autosomal dominant disease which means that you only need one copy of the mutant gene to cause the disorder. You are at a higher risk for Marfan syndrome if someone in your family has previously been diagnosed with Marfan syndrome. Marfan syndrome affects both men and women equally.

Marfan syndrome may affect many systems in the body but often causes abnormalities in the heart, blood vessels, eyes, bones, and joints. The biggest features of Marfan syndrome are dislocated lenses in the eyes which causes vision problems and defects in the aorta which is responsible for distributing blood from the heart to the rest of the body. The aorta can weaken and stretch, causing an aneurysm in the blood vessel. Stretching of the aorta may cause it to leak which could lead to tears in the wall of the aorta which could be life threatening. People with Marfan syndrome may also have leaks in other valves in the heart which could cause irregular heartbeat, shortness of breath, and fatigue.

The most recognizable characteristic of people who have Marfan syndrome is that they are tall and slender. They often have elongated fingers and toes, which is known as arachnodactyly as well as a disproportionate arm span. Other symptoms may include a long and narrow face, crowded teeth, loose joints, scoliosis, flat feet, nearsightedness, stretch marks not related to weight loss or weight gain, and a sunken or protruding chest.

Treatment may include medication to keep their blood pressure low in order to reduce additional strain on the aorta. People with Marfan syndrome may require regular monitoring to make sure that their symptoms do not progressive to a dangerous level. Some people with Marfan syndrome may require surgery to repair the aorta or other tissues and bones.

If you suspect that you or someone you know may display some of the features common to Marfan syndrome, see a doctor or specialist for evaluation. It is important to diagnose Marfan syndrome early on. Many people with Marfan syndrome can live a normal life. Regular check-ups can make sure that symptoms do not increase to a more dangerous situation that may not be detectable from the outside.

Image: http://www.philipcaruso-story.com/marfan-syndrome/

Sources: https://ghr.nlm.nih.gov/condition/marfan-syndrome, https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782

[celiacdisease1]

Effects of Celiac Disease

Celiac disease is an autoimmune disease. An autoimmune disease is a disease in which the immune system attacks healthy cells. If you have one autoimmune disease you are more likely to develop others. Therefore, those who have celiac disease are at a higher risk of developing some other autoimmune disorders. The disorders that can be developed share a genetic and immunological linkage with celiac disease. Those with celiac disease have a 10% higher chance of developing an autoimmune disorder compared to people who do not have celiac disease. The longer you wait to be diagnosed with celiac disease, the higher your chance of developing another disorder is.

The two most common diseases associated with having celiac disease are thyroid disease and type 1 diabetes. There are two types of thyroid disease most commonly related to celiac disease. These include Hashimoto’s disease and Grave’s disease. Hashimoto’s disease is when the thyroid is underactive, and Grave’s disease is when the thyroid is overactive. In addition to this, these can lead to Addison’s disease which is a condition that causes not enough hormones to be produced. Type 1 diabetes is a disease where the pancreas does not produce insulin to break down food. The likelihood of having celiac disease and type 1 diabetes is 9%. While these are the most common associated diseases to celiac disease, there are more.

Autoimmune chronic active hepatitis is a disease that can be associated with celiac disease. This disease causes a swelling of the liver due to it being attacked by the immune system. In addition to this, pernicious anemia can be correlated to celiac disease. Pernicious anemia is a deficiency in vitamin B-12 that is caused due to damage in the lining of the stomach. Raynaud’s disease can be developed from celiac disease and is a condition that causes some limbs to be abnormally cold and numb. Sjogren’s disease, which causes a decrease in the amount of tears and saliva that your body produces, can be brought out from celiac disease. In addition to this, lupus and rheumatoid arthritis can also be developed.

In addition to other autoimmune disorders, some people can be at a higher risk for developing cancers as a result of celiac disease. However, the likelihood of developing some cancers tend to decrease with strict adherence to a gluten-free diet. One type of cancer that can be present due to celiac disease is non-Hodgkin lymphoma. This cancer develops in the lymphatic system of the intestine region of the body. In addition to this cancer, small intestinal adenocarcinoma is another type of cancer that is more prevalent to those who have celiac disease. This type of cancer causes the small intestine to be blocked so that nothing can pass through due to the presence of tumors. Cancer in the esophagus, which is a tube-like structure that food travels from your mouth to stomach though, is eight times more likely. Papillary thyroid cancer and melanoma are both more common in those with celiac than those without.

By realizing all of the complications that can occur as a result of celiac disease, it shows how important following a gluten-free diet is. By following this diet, these diseases and cancers are less likely to occur. Therefore, it is important to take care of your body and eat gluten-free!

[celiacdisease1]

Treatment of Celiac Disease

Due to the amount of damage ingesting gluten does to those who have celiac disease it is important to immediately change your diet. Some people may wonder if there is any type of medication that could cure the effects that celiac disease brings, the answer is no. The only way to avoid the health problems that celiac disease can cause is to go on a completely gluten-free diet. This can be very difficult at first because many do not realize how many foods actually contain gluten, however, your doctor will go through foods that are gluten-free with you to make this easier. In addition to this, there are many resources that can also aid in your treatment. Following this diet will help to heal damage to the small intestine and prevent any further damage. However, it is necessary that you stick to this diet for your whole life as celiac disease does not go away after it develops.

Foods that contain gluten are usually made with wheat or wheat flour. In addition to this, there are a number of other grains that contain gluten. These include rye, barley, malt, semolina, graham flour, farina, durum, and some oats. In addition to having these grains, some common foods that contain gluten are those that are processed. Processed foods that contain gluten include some yogurt, processed meats, candy bars, some ice cream, canned soups, pasta, and pastries. Other common foods that contain gluten are croutons, soy sauce, udon, beer, cereal, bread, spice mixes, and crackers.

While it may seem like an abundance of the food you usually eat contains gluten, it is important to know there are ingredients that you can use to make these common foods gluten-free. Some of these gluten-free alternatives include potato flour, millet, quinoa, cornstarch, corn, almond meal, rice, coconut flour, potatoes, amaranth, buckwheat, teff, and pea flour. Unprocessed meat, fish, fruits, and vegetables are also gluten-free.

When shopping for foods it is important that you read food labels for ingredients that contain gluten. Most times when shopping, gluten-free foods will be labeled as gluten-free. However, most of these gluten-free foods tend to be more expensive and this can be very frustrating. When going out to eat you should always ask the servers what foods they have that are gluten-free or if a gluten-free menu is available.

Symptoms of celiac disease should improve after changing your diet. However, if they do not improve it is possible that you are ingesting very small amounts of gluten without even realizing it. Some hidden sources of gluten can be found in modified food starch, malt flavoring, and preservatives. After making sure that you are not eating any hidden sources of gluten if your symptoms still persist it is important that you contact your doctor as there may be something else going on in your body.

There are multiple online resources that can help you adjust to your new gluten-free diet. Some of the most helpful resources that I have found would be the diet plans that you can follow for anywhere from a week all the way to a few months. I felt that not only did these make me feel better, but they also helped me to realize what was gluten free and what was not. In addition to this, I learned how to use gluten-free ingredients in different ways to create more dishes that I did not know where even possible to be made gluten-free. Overall, the transition can be difficult but it is important to stick to it for your own health and to reach out to your doctor if you need help.

[celiacdisease1]

Celiac Disease Screening and Diagnosis

There are several ways to know if you should get tested for celiac disease. The first, most obvious one would be if you are showing symptoms of the disease. In addition to this, another reason for getting tested would be if you have a first relative who has celiac disease. This is because celiac disease is hereditary and those who have parents, siblings, or children with the disease are at a higher risk of having the antibodies. Finally, the last reason some should get tested is if they have other autoimmune disorders as it has been shown that they can be linked.

If you feel like you fit into one of these categories. It is important to know what they are testing for when they screen you for celiac disease. The first way that doctors will go about testing for celiac disease is through a blood test. Those who have celiac disease and eat gluten have higher levels of specific antibodies in their blood. These antibodies are produced by the immune system due to the fact that it sees gluten as a harm. However, prior to being tested, it is important to remain on a gluten-containing diet so that these antibodies are present otherwise the blood test will not be accurate. It is important to realize that a positive result does not ensure that you have celiac disease, but they do show potential for having it. Therefore, after obtaining a positive result in any of these tests, further screening must be performed.

The most common blood test used to test for celiac disease is the Tissue Transglutaminase IgA and IgA antibody test. These blood screenings check to see if your body is producing the antibodies as an effect of the ingestion of gluten. While this test is accurate for 98% of patients with celiac disease and 95% of people without celiac disease, there is still the chance of a negative test result even if you have celiac disease. In addition to this, those who have other autoimmune disorders are at risk of having a false positive test result.

In cases where there is a potential of a false positive or negative, other antibody tests can be used. These include a total serum IgA test which checks for IgA deficiency, a symptom of celiac disease, a deaminated gliadin peptide test which is used in those who test as a false negative, and a IgA endomysial antibody test which is not as accurate because some people who have celiac disease do not produce positive results anyways.

In addition to these blood tests, your doctor may want to do genetic testing. In this genetic testing, doctors look for HLA DQ2 and DQ8 genes. People who have celiac disease have one or both of these. Positive results of this testing mean that you carry the genes that may cause you to develop celiac disease some time in your life. However, you may not. Negative test results, in which neither of the genes is present, exclude the possibility of developing celiac disease. Therefore, genetic testing cannot be used as a diagnosis for if you have celiac disease or not but more so as a way to know if you will ever have it.

Once one of these tests show that you have the possibility of having celiac disease, your doctor will need to do an endoscopy. From this endoscopy, your doctor will be able to see any inflammation or damage done to your small intestine by looking at the state of your villi. They will also take a biopsy of the small intestine to be used to diagnose if you have celiac disease or not.

An important aspect of celiac screening is to acknowledge negative results. Personally, I have found this side of the spectrum somewhat frustrating. Acknowledging negative results means that if you are still expressing symptoms, especially if you have a first relative with the disease, you need to talk to your doctor about further testing. Further testing would include an endoscopy with a biopsy, even though bloodwork comes back negative. It is also important to remember that you can develop celiac disease at any age. So even though you got tested before and it came back negative, if a few years later you feel symptoms then getting tested again may show different results. Celiac disease is a condition that you want to catch early on before it does a lot of damage and to do this you need to pay attention to what your body is telling you.

[celiacdisease1]

Symptoms of Celiac Disease

Celiac disease has a wide variety of symptoms that vary from person to person. While some people can have constipation others may have the complete opposite, diarrhea. In addition to this, in some cases, people show no signs at all. Because of this range of symptoms, around 83% of people with celiac disease go undiagnosed or misdiagnosed. In addition to this, people also differ in when they develop celiac disease. Depending on whether the disease is developed as a child or adult, symptoms may be different. Failure to diagnose celiac disease can lead to other serious health problems such as weak bones, certain cancer, and other autoimmune diseases.

For adults who develop celiac disease, there are more symptoms that are unrelated to the digestive system compared to those of children. These symptoms include anemia which is a decrease in red blood cells due to a lack of iron, anxiety, bloating, constipation, depression, diarrhea, tiredness, migraines, infertility, irritability, skin rash, mouth sores, failure to gain weight, thinning of the bones, and the feeling of numbness in limbs. A lot of these symptoms are directly related to the damaged villi in the small intestine as a result of ingesting gluten, which causes malnutrition.

For children who develop celiac disease, symptoms that are more related to growth. These symptoms include; short stature, failure to thrive, frequent bone fractures, delayed puberty, and loss of appetite. In addition to these, children also have some symptoms in common with those of adults. These include; chronic diarrhea or constipation, abdominal pain, vomiting, bloating, tiredness, anemia, and rashes. If celiac disease is caught early enough, some of its effects to the small intestine may be reversible. It is important to realize these signs and bring them up with the doctor early on.

The symptoms of celiac disease can be present in many different ways. There is a total of three types of celiac disease. The first type is classical celiac disease. Those who have this show mainly signs of the malnutrition. These signs are usually diarrhea, constipation, weight loss, thinning of bones, growth failure, and delayed puberty. The second type of celiac disease is non-classical celiac disease. Those who develop this time do not show as much malabsorption symptoms but show digestion problems and a variety of other signs. For example, those with non-classical celiac disease show abdominal pain, anemia, tiredness, headaches, numbness in limbs, thinning of bones, infertility, depression, anxiety, and skin rashes. Finally, the third type of celiac disease is silent celiac disease. Patients with this type show no symptoms. However, when they ingest products containing gluten there is still damage being done to their small intestine.

With all of these symptoms, it is important to keep track of what is going on in your body. If you notice any of these occurring, it is important to talk to your doctor so you can obtain a diagnosis. Early diagnosis is the best way to prevent any irreversible damage to your small intestine. In addition to this, it is also important to realize that even though you may not show any symptoms, you may still have celiac disease.

[celiacdisease1]

What is Celiac Disease and where did it come from?

Celiac disease is an autoimmune disorder that is caused by the body’s reaction to ingesting gluten. Gluten is a protein that is found in wheat, barley, and rye. When people with this disease eat products that contain gluten, their body has an immune response. This immune response causes an attack on their small intestine. A repercussion of this immune response is that the villi of the intestine end up being damaged. Villi are small hair-like structures that project inwards from the lining of the small intestine. Villi play a crucial role in nutrient absorption, therefore, the damage done on the villi can ultimately lead to malabsorption.

The start of this disease dates back more than 2 million years ago during the agricultural revolution. During this time, a large number of new food antigens were being discovered. The introduction of these new sources of nutrients caused the need for adaptation. Most of the individual’s bodies were able to do so. Those who could not, however, developed food intolerances such as celiac disease.

Celiac disease is one type of autoimmune disorder that is genetic. This means it is passed down through genes. Recently when looking at genetic disorders, researchers have addressed the question of natural selection. If natural selection is the survival of the fittest, how can a disease with detrimental effects on fitness continue to persist? The answer to this question is the heterozygote advantage. This happens when those who are heterozygote have a greater fitness than those that are homozygote. However, in most cases, there is some sort of trade-off. In the case of celiac disease, doctors hypothesize that “celiac disease is directly related to an increased immune activity.” This immune activity increased individual’s fitness because they were more capable of fighting off infections. The tradeoff, in this case, is the fact that the immune system also reacts to substances containing gluten.

While this hypothesis does make sense, there are some issues with it. This hypothesis compares celiac disease to other genetic diseases such as sickle cell anemia. In reality, however, these two disorders are not that similar in their genetic make-up. For those diseases like sickle cell anemia, if you have the gene you end up having the disease. In contrast, for celiac disease, there are two alleles that carry the disorder yet only around 1% of the population is diagnosed with celiac disease. This shows that the expression of celiac disease is very low. In addition to this, there are around 40 genes that are shown in those with celiac disease. Scientists find it difficult to believe that 40 genes are due to an increased fitness or failure to adapt.

Overall, it is important to realize that celiac disease is a serious disorder that is passed down from generation to generation. Whether this disease causes an increased fitness in some or not, it is important to acknowledge and live accordingly. If gone undiagnosed or misdiagnosed, there are serious health risks that can occur as a result of the injuries to the villi in the small intestine.