Gastroschisis in Fetal Development and the Rising Rates of Prevalence

By: Jana Andersson

Gastroschisis (gas-troh-skee-sis) may not be a term you are familiar with until you or someone you know has been given this terrifying diagnosis. While the better news is that in most cases with access to modern care this otherwise lethal condition is highly treatable. But the alarm call to all is that the prevalence of gastroschisis is on the rise. The cause of the disease remains unknown as does the reason for its increase. The following provides an overview of this congenital birth defect and also serves to increase public awareness and concern.

What is gastroschisis?

Gastroschisis belongs in the category of  “ventral wall defects” (ventral meaning “front of abdomen”) and is the most common disease in this class. Due to a malformation of the abdominal wall just to the right of the umbilical insertion the fetal intestines extrudes into the amniotic fluid. The event is generally isolated with rare instances of accompanying birth defects and few instances of genetic or chromosomal abnormalities. However, the number of new cases of has been markedly increasing. Gastroschisis is fatal without access to modern treatment. With treatment the survival rate is 95%.

Image Courtesy of the Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities

How is gastroschisis diagnosed?

Gastroschisis may be diagnosed by pregnancy screenings in the 2^nd trimester. Due to the abdominal wall defect Alpha-fetoprotein (AFP) from the fetus is released into the amniotic fluid and crosses the placenta. The elevated levels in maternal blood will register on a blood test in 77-100 % of cases. A follow up ultrasound may identify gastroschisis. Additionally, a routine 2^nd trimester ultrasound may independently diagnose the condition if no blood-work was performed or if previous levels were undetectable. There are no other maternal signs or symptoms.

Fetal signs in utero

·       AFP released into amnion from fetal tissues.

·       Sections of bowel float free in the amniotic sac and may include other organs.

·       In early pregnancy the bowel is of normal size but later the diameter may increase leading to obstruction, perforation, and lack of blood-flow.

·       Due to exposure the bowel may become irritated causing it to shorten, twist, or swell.

·       Primary nutrient loss is from membrane and muscular dysfunction.

·       Growth restriction occurs in 38-77% of cases

·       48% of fetuses/births are small size

·       Shortened gestation period of 35-37 weeks (40 is normal)

Treatment begins immediately after birth

Actions include:

·       Placement of IV for antibiotics, pain relief, and nutrition

·       Access to ventilator

·       Insertion of nasogastric tube to decompress/draw out bowel contents which could otherwise be taken up into the lungs.

·       Maintaining a temperature controlled environment

·       Maintaining sterile conditions

If the the amount of exposed bowel is small the organ can be put back in and the hole sutured within a day of birth.

If the amount of exposed bowel is large it may be repaired in stages. In such cases the intestines are put into a sterile plastic cylindrical bag called a silo. Utilizing spring tension the base of the bag seats tightly around the abdominal opening and the top of the bag mounts to a hook and is suspended over the infant much like an IV drip. The intestinal feed works by gravity and every 48 hours physical pressure is applied to the bag with a twist from the top. Over the course of 7-10 days a once large and swollen herniation will eventually fit back inside the cavity. The surgeon will then remove the silo and close up the wound.

The next challenge is recovery. The intestines may delay in working. Furthermore infants may experience disinterest in feeding, reflux, serious infections, and areas of intestinal death. Ultimately babies go home when they are feeding entirely by mouth, gaining weight and intestinal function has returned. The best case scenario for hospitalization is about a month but this can extend up to four.

Many afflicted infants go on to lead normal lives but 40% will need additional treatment at some point. Gastroschisis is the leading cause of intestinal transplantation.

What causes gastroschisis and why is there a hole in the abdominal wall to the right of the cord insertion?

The cause for gastroschisis is unknown. In normal early development the primitive gut evolves from the yolk sac and becomes the midgut – basically a long narrow tube. Thereafter this tube elongates faster than the embryonic body which forces an embryonic loop into the amnion. Later, this loop recedes back into abdomen. Earlier but in a different area of development the right umbilical vein regresses and dissolves in order to make way for an improved vascular system required for expanding growth. In gastroschisis the vascular disruption theory suggests a premature withdrawal of this right side umbilical vein before 28-32 conceptual days may lead to ischemia (cell death due to lack of blood flow) thereby adversely affecting the early evolving tissues that ultimately give rise to the abdominal defect specific to that region. Similarly it is also thought that ischemic injury to the mesenteric artery gives rise to the high rates of intestinal artresia (intestinal death) associated with gastroschisis.

What is the risk of having a baby with this birth defect?

According to the CDC

Cases per Births: 1 in 2,229

Estimated Annual Cases: 1871

·       Since the 1980s, the number of babies born with gastroschisis has increased, especially among young mothers aged younger than 20 years.

·       Between 1995-2005 cases of gastroschisis nearly doubled.

·       The prevalence of gastroschisis increased from 1995 to 2012 among mothers in every age group and for each racial/ethnic group that was studied (non-Hispanic whites, non-Hispanic blacks, and Hispanics).

FIGURE. Trends in gastroschisis prevalence, by maternal age group — 14 states,* 1995–2012

Graph image: CDC, Morbidity Mortality Weekly Report Weekly / January 22, 2016 / 65(2);23–26

Can gastroschisis be prevented?

Because the cause is unknown prevention is difficult to identify. Risk lessens after maternal age 25. Furthermore use of vasoconstrictors such as aspirin, ibuprofen, nasal decongestants, alcohol, and cigarettes during the first trimester of pregnancy can be related to the vascular pathology of the disease. More research is needed to explore genetic and environmental influences.

References

  

Ali Nawaz Khan, Sunaira Macdonald, Duree Sabih. 2015 Sept 25. Gastroschisis. Available from http://emedicine.medscape.com/article/403800-overview#a1

Chabra, Shilpi, Gleeson, Christine A.. 2006. Gastroschisis: Embryology, Pathogenesis, Epidemiology. NeoReviews Vol 6 No 11. Retrieved from: http://pedsurg.com.pe/Gastroquisis%20embriologia %20patogenesis%20y%20epidemiologia.pdf

Debich-Spicer, Diane E., Gilbert-Barness, Enid. Embryo and Fetal Pathology. 2004 May 31. Retrieved from: https://books.google.com/books?id=os_NQOiTu_4C&pg=PA510&lpg=PA510&dq=embryo+involution+veins+arteries&source=bl&ots=BX5Mji-ayl&sig=U3tknYr_vRr-hDyHdYqXAi5P8fg&hl=en&sa=X&ved=0ahUKEwif-suajuzKAhVU72MKHbsjCPMQ6AEIKjAD#v=onepage&q=embryo%20involution%20veins%20arteries&f=false

Facts about gastroschisis 2015 Nov 12. Retrieved from: http://www.cdc.gov/ncbddd/birthdefects/gastroschisis.html

Feldkamp, M. L., Carey, J. C. and Sadler, T. W. (2007), Development of gastroschisis: Review of hypotheses, a novel hypothesis, and implications for research. Am. J. Med. Genet., 143A: 639– 652. doi: 10.1002/ajmg.a.31578 Retreived from: http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.31578/abstract
Glasser, James G.. 2015 April 28. Pediatric Omphalocele and Gastroschisis. Retrieved from: http://emedicine.medscape.com/article/975583-overview

Ionescu, S., Mocanu, M., Andrei, B., Bunea, B., Carstoveanu, C., Gurita, A., ... & Selleh, M. (2014). General Report. Chirurgia, 109, 7-14. http://www.revistachirurgia.ro/pdfs/2014-1-7.pdf

Jones AM, Isenburg J, Salemi JL, et al. Increasing Prevalence of Gastroschisis — 14 States, 1995–2012. MMWR Morb Mortal Wkly Rep 2016;65:23–26. DOI: http://dx.doi.org/10.15585/mmwr.mm6502a2.
Key findings: gastroschisis – a serious birth defect - continues to increase. 2016 Jan 21. Retrieved from: http://www.cdc.gov/ncbddd/birthdefects/features/keyfindings-gastroschisis-increase.html
Key Findings: Updated National Birth Prevalence Estimates for Selected Birth Defects in the United States, 2004-2006. Reviewed 2016 Jan 21. Retrieved from: http://www.cdc.gov/ncbddd/birthdefects/features/birthdefects-keyfindings.html

National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD): The Library; 2016 Feb 08. Abdominal Wall Defect; [reviewed 2012 Aug]. Available from: http://ghr.nlm.nih.gov/condition/abdominal-wall-defect

The Children's Hospital of Philadelphia (Producer). (2011, July 01) Inside out: understanding abdominal wall defects (AWD) [Video transcript] http://www.chop.edu/video/inside-out-understanding-abdominal-wall-defects-awd#.Vr9tD-YYFKm

Thomas, Kayle. Gastroschisis. Retrieved from http://averysangels.org/gastroschisis/

Cholera

By: feedmeee3

"When your stomach is a rolling, and your cleaning out your colon, diarrhea…diarrhea!"

While Americans are able to joke about experiencing diarrhea after consuming spicy or foreign food, diarrheal diseases remain to be the leading cause of preventable deaths for those in developing countries. Although diarrheal diseases are most common to children under the age of five in developing countries, anyone can be affected. Diarrheal diseases are prone to people in poverty since these diseases are associated with individuals who live in areas of inadequate sanitation and hygiene, no safe water treatment. During the 1800s, Cholera, a particular diarrheal illness was once prevalent in the United States, but was quickly resolved with our water and sewage system. While the United States was able to control and diminish this disease, Cholera epidemics occur all around the world today. Centers for Disease Control and Prevention (CDC) estimated 3-5 million cases and over 100,000 deaths that occur each year due to Cholera. Here we will discuss what exactly Cholera is, how an individual can obtain this diarrheal illness, the affects on the human body, and how the world plans on put an end to Cholera epidemics.

Cholera is an acute diarrheal illness caused by infection of the intestine with the comma shaped bacterium Vibrio cholera. It is transmitted by water or food that has been contaminated with the feces containing this bacterium, not by person-to-person contact. Once the bacterium is in the small intestine, it secretes a Cholera Toxin that causes the large intestine to secrete and lose large amounts of water and salt (Silva and Benitez et al. 2016). This leads to the symptoms of this disease, which include watery diarrhea, vomiting, cramping, abdominal pains and etc. If untreated, severe dehydration can rapidly lead to death in hours! Since Cholera symptoms are similar to symptoms of other bacterium, diagnosis and detection is based on a stool sample to see if the bacterium Vibrio cholera is present.

The reason why this bacterium, Vibrio cholera is still around today is due to evolution. Vibrio cholera evolved to effectively withstand diverse physical, chemical, and biological stresses such as extreme temperatures and pH levels and other harsh conditions in both aquatic environment and small intestine of humans (Silva and Benitez et al. 2016). Silva and Benitez et al. (2016) also propose that Vibrio cholera have the ability to switch from motile to non-motile allowing them to successfully survive and colonize in the small intestines of humans as well as in aquatic environments outside the human body. In other words, certain environmental cues will trigger Vibrio cholera to transition their mobility from being sessile (non-motile) to motile and vice versa. This could easily relate to migrating birds. Birds migrate to areas (environments) that supply them everything they need to survive, which would be sufficient amounts of food, water and good living conditions. When their environment no longer supplies these necessities, they migrate until they find another suitable area where they will then stay put, until they need to search for a new home. Since the intestinal gut provides a nutritious environment, it is thought that Vibrio Cholera would like to stay in the small intestine so they transition to non-motile form and cling to the walls of the small intestine. Why leave, when they have everything they need to survive and thrive!

Because nutritional balance is such an important necessity for growing infants, when infected by Cholera, infants are more prone to death. While diarrhea causes dehydration and loss of nutrition and electrolytes, the body loses the energy to grow and protect itself. According to the World Health Organization (WHO), Cholera is the leading cause of malnutrition in children in developing countries. Majority of Cholera deaths are children under the age of five, but Cholera can affect any individual in any age group. To prevent Cholera epidemics to those in developing countries, WHO Cholera groups as well as health experts in the area do their best to provide access to safe drinking water and food, as well as promoting better sanitation practices and hygiene. To resolve deaths of children under the age of five, mothers in developing countries are advised to breastfeed their children for till six months. Reason being, being breastfed allows infants to be 6.1 times less likely to die of diarrhea than infants who are not breastfed. Breast milk contains both immune (specific) and non-immune (nonspecific) antimicrobial factors as well as the necessary vitamins and minerals. In other words, mothers’ breast milk contains everything an infant needs to be a strong, healthy six month infant. According to WHO, by promoting exclusive breast feeding for the first six months through hospital policies, counseling, education, mass media, and mother support groups, this could decrease all-cause mortality in children under five by 13 percent! On top of being preventable, Cholera is also treatable. WHO also states that 80% of cases are be successfully treated with oral rehydration. There is also vaccines that help prevent Cholera, although does not guarantee 100% protection.

Every fifteen seconds, a child dies from bad water and sanitation.. According to WHO, 65% of infant deaths due to cholera and related illnesses in developing countries could be prevented with clean drinking water and sanitation. Hygiene education to create a locally sustainable solution to the global water and sanitation issue is another crucial aspect of the prevention of cholera. Even if we are not directly affected by it, Cholera is still a very active disease that is affecting the whole world.

Citations

Cholera. (2015, July). Retrieved February 12, 2016, from http://www.who.int/mediacentre/factsheets/fs107/en/

Cholera- Vibrio cholerae infection. (2014 October/November). Retrieved November/December, 2014, from http://www.cdc.gov/cholera/index.htm

Silva AJ, Benitez JA (2016) Vibrio cholerae Biofilms and Cholera Pathogenesis. PLoS Negl Trop Dis 10(2): e0004330. doi:10.1371/journal.pntd.0004330

Hepatic Portal Hypertension

By: Medic 1

A large, perfectly round, soft, and jiggly belly is very desirable in some parts of the world. It can also be a precursor to an extremely quick and bloody death. Hepatic portal hypertension is a syndrome that is linked to diseases that effect the liver. In the following paragraphs, we’ll talk about how people get hepatic portal hypertension, how those people are effected, and what exactly is going on inside of the body when it develops. We’ll also explore what treatment options are available, and what can be done to prevent the problem. Finally, we’ll talk about how hepatic portal hypertension can lead to that big, round belly, and end your life in a scene bloody enough for a horror film.

Let’s go over some basics, and breakdown what hepatic portal hypertension means. The word hepatic, simply means anything referring to the liver. Portal, is referring to the portal vein (also referred to as the hepatic portal vein). It is one of the major blood vessels in the body, and it essentially carries blood from many of our organs and intestines back to the liver for filtration. Hypertension refers to a high amount of pressure found inside our blood vessels. In this case, we are talking about having a high degree of pressure, inside our hepatic portal vein.

Hepatic portal hypertension develops when we have problems with our liver. The most common cause is cirrhosis. Hepatitis, cancer, and anything else that causes the liver to function poorly can lead to hepatic portal hypertension. Problems can develop with our liver in several ways, but the most common are through lifestyle choices. The liver is our bodies major filtration system. Anything we put into our bodies must pass through the liver. When we drink alcohol or take drugs (either illicit or medications), the liver works hard to remove these products from our blood stream, so we can eventually get them out of our body. People who use alcohol or drugs for long periods of time, eventually overwork the liver, and disease develops. For this reason, alcoholics and drug addicts often have liver failure. People who share needles are also susceptible because they are at a high risk of contracting hepatitis, which literally translates to inflammation of the liver. Infections, parasites, and cancers can also debilitate the liver and lead hepatic portal hypertension.

As we mentioned earlier, the liver takes care of filtering the bodies blood. If we think of all of the blood vessels in the body as water pipes, the liver would be the water treatment plant. When the liver is not functioning properly, it either slows down or stops the filtration process. Just as you would expect if the water treatment plant was running slowly or stopped all together, there is a backup in the system. Water backing up would put additional pressure on the pipes, and could eventually cause one to burst. The same thing happens in the portal vein. The backup exerts more pressure on not only the portal vein, but all of the veins that are offshoots of it. This leads to swollen veins, also known as varices. Too much pressure on these veins can eventually lead to them bursting, which can be an extremely life threatening situation.

Remember that large, perfectly round, soft, and jiggly belly we talked about earlier. This is one of the symptoms of hepatic portal hypertension. In addition to the liver being the bodies water treatment plant, it’s also the bodies protein factory. When the liver fails, it’s ability to manufacture proteins suffers. A very key protein related to our topic is albumin. Albumin plays a major role in regulating the pressure inside of our blood vessels. As the force of blood pushes against the walls of our blood vessels, albumin regulates the pressure that pushes back, and keeps the blood inside of the vessels. Our blood vessels actually have little, tiny holes in them, so without this pressure, blood will leak out. This is what happens with a symptom called ascites. Our liver is not functioning properly so blood has backed up into the hepatic portal vein, increasing its pressure. Because the liver isn’t working properly, we don’t have the albumins we need to create enough pressure to push back against the additional pressure caused by the backup, and the portal vein and associated vessel begin to leak blood. This blood builds up in the abdomen, and creates a large, perfectly round, soft, jiggly belly.

As some of the associated vessels become engorged, they can provide us with additional signs of hepatic portal hypertension. They can become visible in the abdomen, anus, and even in the throat. When they burst, blood can make its way into our intestines and show up as black tarry stools. Blood vessels in the anus can burst presenting as blood in our stool. Blood vessels in the esophagus can burst and cause us to vomit blood. This brings us to that bloody scene worthy of a horror movie I described earlier. An esophageal varices, which is a direct result of hepatic portal hypertension, blood vessels is the lower esophagus burst. If the vessels are large enough, we can rapidly lose blood. People have been known to vomit up to 1 liter of blood at a time, which is approximately 15% of the bodies total blood volume. If something isn’t done to stop the broken vessel from bleeding, death can occur within a matter of minutes.

Unfortunately, there is no cure for hepatic portal hypertension. Most of the treatments revolve around managing the effects that it has on your body. The best treatment is to prevent yourself from getting it in the first place. Prevention means taking good care of your liver, which means making healthy lifestyle choices. Eat healthy, exercise, don’t smoke, don’t do drugs, and most importantly, avoid excessive alcohol consumption. There’s no guarantee that you can completely avoid hepatic portal hypertension, but healthy lifestyle choices will certainly increase your odds of prevention.

References Cited

"What Is Portal Hypertension?" WebMd.com. Ed. Malinda Ratini. N.p., 16 Dec. 2014. Web. <http://www.webmd.com/digestive-disorders/digestive-diseases-portal>.

Herrine, Steven K., MD. "Portal Hypertension - Liver and Gallbladder Disorders." Merck Manuals Consumer Version. N.p., July 2014. Web. <https://www.merckmanuals.com/home/liver-and-gallbladder-disorders/manifestations-of-liver-disease/portal-hypertension>.

Bosch, Jaume, MD, Pilar Pizcueta, PhD, Faust Feu, MD, Mercedes Frernandez, PhD, and Juan C. Garcia-Pagan, MD. "Pathophysiology of Portal Hypertension." Gastroenterolgy Clinics of North America (1992): n. pag. Researchgate.net. Web. <https://www.researchgate.net/profile/Mercedes_Fernandez2/publication/21586497_Pathophysiology_of_portal_hypertension/links/553e31480cf20184050ddc8b.pdf>.

"Liver and Intrahepatic Bile Ducts-nontumor - Ascites." Pathologyoutlines.com. Ed. Komal Arora. N.p., Oct. 2014. Web. <http://www.pathologyoutlines.com/topic/liverascites.html>.

Chronic Kidney Disease

By: coconut dreams

Imagine that half the worlds population older than 70 has chronic kidney disease (CKD). This is the reality suggested by new international guidelines adapted in 2012 (International Society of Nephrology). The purpose of this essay is to define chronic kidney disease and identify its pathogenesis, clinical manifestations, etiology, epidemiology, and current treatments.

Kidneys filter wastes and excess fluids from blood, which are then excreted in urine. However, gradual loss of kidney function occurs when a disease or condition impairs kidney function, causing kidney damage to worsen over several months or years, leading to CKD. CKD is similar to a malfunctioning lint catcher in a dryer – the lint catcher catches lint to ensure the dryer runs properly and efficiently. However, if the lint catcher is not properly cleaned after each use, then lint and other debris continues to build up, decreasing the dryers efficiency, leading to potential explosion or malfunction. Similarly, CKD causes the buildup of fluid and waste products in the body, which affects other body systems and functions, typically leading to other issues, such as high blood pressure and low blood cell count (NIH).

According to the results of the 1999-2004 National Health and Nutrition Examination Survey (NHANES), in the United States alone, an estimated 26 million people, approximately 13% of the adult U.S. population, have CKD. This is approximately a 13% increase from the estimated 20 million adults affected in 1994. In this study, adults older than 20 years were randomly surveyed and kidney function was tested. Of those surveyed, only 11.6% of men and 5.5% of women were aware that they had kidney disease (moderate stage 3). Awareness increased to 42% among those with severed Stage 4 kidney disease. The NHANES study and a study conducted by J. Coresh et al (2007) also found that although racial and ethnic minorities do not appear to have an increased prevalence of CKD in the U.S. compared with non-Hispanic whites, the risk of progression from CKD to ESRD is higher for African Americans, Hispanics, Pacific Islanders, and Native Americans. The reasons for this disparity are unclear and are currently under investigation.

Despite the increased prevalence of CKD, it continues to be under-recognized by both healthcare providers and patients, especially during the early stages when patients are generally asymptomatic. According to Andrew S. Narva, M.D., F.A.C.P., a kidney specialist at the National Institute of Health, he states “kidney disease is often silent until late stages, but if we can find it early we can do a lot to prevent kidney failure” (NIH). Currently there is no cure for CKD. However, depending on the underlying cause, some variations of kidney disease can be treated. Efforts are primarily focused on managing and slowing the progression through various medical treatments, procedures, and lifestyle changes (NIH).

Diabetes and high blood pressure are the two most common causes of CKD. According to Paul Eggers, Ph.D, director of kidney disease epidemiology at the National Institute of Diabetes and Digestive and Kidney Diseases, he states that “increases in diabetes, hypertension, obesity, and the aging U.S. population explain at least some of the increase, [however] we don’t know what may be responsible for the rest” (NIH). However, there are many other diseases and conditions that can damage the kidneys, which may significantly contribute to the development of CKD, including autoimmune disorders, congenital birth defects, such as polycystic kidney disease, reflux nephropathy (the backward flow of urine into the kidneys), glomerulonephritis (inflammation of the glomeruli, structures responsible for filtering blood in the kidneys), and pyelonephritis (inflammation of the kidneys) (Mayo Clinic).

According to Andrew S. Narva, M.D., F.A.C.P., a kidney specialist at the National Institute of Health, he recommends that those with diabetes, high blood pressure, or a family history of kidney problems should be screened for kidney damage with routine blood and urine tests because they are at higher risk for developing CKD. Narva, along with other medical professionals also recommend medications, such as angiotensin converting enzyme inhibitor or angiotensin receptor blockers to address heart complications, and dietary modifications, including low protein and salt diets. The Mayo Clinic recommends those afflicted with CKD to ask their health care providers if they also require cholesterol-lowering medication because those with CKD often experience high levels of cholesterol, which can increase the risk of heart disease (Mayo Clinic). The Mayo Clinic also recommends patients investigate whether or not they should be taking diuretics, or water pills. Often those with CKD retain fluid, which causes swelling in the legs. It may also cause high blood pressure.  These medications, which relieve swelling by increasing urination help to maintain fluid balance (Mayo Clinic). Finally, the Mayo Clinic recommends low protein diets as this would be one option that may help reduce the amount of work the kidneys must do, helping preserve them (Mayo Clinic).

Over time, CKD will overwhelm these medications and treatments and patients will develop end-stage renal disease (ESRD), or complete or near-compete kidney failure. ESRD occurs when the kidney’s can no longer keep up with waste and fluid clearance on its own. At this point, dialysis or a kidney transplant is needed. Dialysis is the process of removing waste products and extra fluid from the blood. There are two types of dialysis. Hemodialysis utilizes a machine to filter waste and excess fluids from the blood. Peritoneal dialysis utilizes a catheter (a thin tube) that is inserted into the abdomen and fills the abdominal cavity with a dialysis solution that absorbs waste and excess fluids. After a period of time, the dialysis solution drains from the body, carrying the waste and excess fluid with it. A kidney transplant is a surgical procedure that involves the removal of the diseased kidney and replacing it with a healthy kidney from a donor (Mayo Clinic).

Ultimately, successful management of CKD depends on optimal management of common comorbid conditions, such as diabetes and cardiovascular disease, patient education, and a multidisciplinary approach to disease management that utilizes dieticians and social workers, in addition to physicians, is crucial to the successful management of CKD (University of Michigan). 

Works Cited

"Chronic Kidney Disease." Mayo Clinic Health Letter. Mayo Foundation for Medical

Education and Research, 30 Jan. 2015. Web. 12 Feb. 2016.

J. Coresh et al. "Prevalence of Chronic Kidney Disease in the United States," Journal of the

American Medical Association, November 7, 2007; 298(17): 2038-2047.

KDIGO 2012 Clinical Practice Guideline for the Evaluation and Management of Chronic

Kidney Disease. New York, NY: Nature Publ. Group, 2013. Kidney Internation

Supplements. Official Journal of the International Society of Nephrology, Jan. 2013.

Web.

"Kidney Disease of Diabetes." Kidney Disease of Diabetes. National Institutes of Health

National Institute of Diabetes and Digestive and Kidney Disease, Apr. 2014. Web. 10

Feb. 2016.

Lukela, Jennifer Reilly, R. Van Harrison, Masahito Jimbo, Rajiv Saran, and Annie Z. Sy.

“Management of Chronic Kidney Disease.” University of Michigan Ambulatory

Clinical Guidelines Oversight. November 2013.

Got the baby itch?

By: Call the Midwife

No, I don’t mean baby fever. I mean a physical itch so debilitating, relentless, and unbearable that you’ve scratched or rubbed your skin raw ‒ all while pregnant. That’s what can be experienced by around 1 in 1,000 pregnancies and is often an indicator of: intrahepatic cholestasis of pregnancy (ICP) or obstetric cholestasis. The following post will demonstrate an overview of the causes and features of ICP, keeping in mind that more research is constantly developing and that not all details can be explained in one post.

The term “cholestasis” refers to any bodily condition that obstructs the flow of the digestive fluid, bile, which is created in the liver and stored in the gallbladder. Bile is important in the absorption and excretion of toxic substances therefore with ICP there is  a risk of accumulating toxins and waste products in the body. The exact causes of ICP are unknown and seem to be composed of genetic, hormonal, and environmental factors.

ICP can be genetically inherited as a sex-chromosome linked dominant trait meaning that it could be passed on from generation to generation if you're either of your parents have experienced the disease or are carries of the genetic component. Your genetic code acts as a recipe and takes ingredients from your parents to make up a new twist. It is also thought that the elevated hormone levels, such as increased estrogen, experienced during reproduction may trigger an incidence of ICP by unmasking or flipping the switch on that genetic marker that you already possess.

What you may be experiencing:

The most common symptom women with ICP experience is a severe itchy feeling throughout the body, especially in the hands and feet. Other symptoms can include darkened urine, light stools, loss of appetite, depression, and anxiety. A rare but possible symptom is jaundice which is yellowing of the skin.

Itching alone is not a direct indicator of ICP, as itching during pregnancy can occur for a variety of reasons. In order to diagnose, a physician will usually order a blood test, a liver function test and bile acid test to identify signs and indicators of ICP

Although the condition does little long-term harm to the mother, there are a number of possible fetal complications including fetal distress, fetal oxygen deprivation and stillbirth. It’s common that the itching becomes so unbearable to the mother that delivery as early as 36-37 weeks is common. A particular toxin to be aware of for the sake of the baby's development is the buildup of bilirubin, which is a byproduct of blood recycling. A buildup of bilirubin can be toxic to developing a fetal nervous system which causes a syndrome called kernicterus which is a form of nervous system damage caused by severe jaundice. The general approach is to conduct twice-weekly non-stress testing to monitor the baby and induce labor after 37 weeks if the baby’s lungs are adequately developed. There is a low risk of hemorrhaging during delivery which is usually addressed at birth with a vitamin K shot before and after birth to promote blood clotting.

Why the itch?

The Great Itch ‒ itself, is caused by the bodies lack of ability to excrete cholesterol from the body. Cholesterol is normally converted to bile salts and excreted with them but with the buildup of bile salts in cholestasis, cholesterol and bile salt serum deposits can collect under the skin and cause severe irritation and itching.

Photo credit: momjunction.com

Am I the only one going through this horror?

Exact incidence of ICP is difficult to identify because understanding of ICP is just recently on the rise. Data shows that familial clustering is prominent which supports the theory of both genetic and environmental components. The incident rate in the United States varies between 1-5% while incidences are much higher in areas like Chile at 16%. Advanced maternal age seems to increase risk and pregnancies with multiples can make the mother 5 times more likely to develop ICP.

Treatment & Prevention

There is not a cure for ICP but rather methods to make the symptoms more comfortable. Anti-itch creams and cold baths are generally recommended although they are mildly effective. Diet can be a big component in both prevention and treatment.

Since bile is important in the digestion of fatty acids, eating a diet lower in fats will signal your body that not as much bile is needed and it will therefore make less bile because it is not needed. Healthy fats (unsaturated and polyunsaturated) are recommended because they are biochemically easier to break down in comparison to less healthy fats (saturated or trans-fats) and will therefore need less bile. Supplements such as refined fish oils, milk thistle, and dandelion root are recommended as both prevention and treatment because of their liver detoxifying properties.

Gallbladder removal for the mother is also common after birth because an incidence of ICP can be a good indicator of future complications such as gallstones.

ICP generally resolves after birth but studies have shown that there is possibility for increased risks of liver and immune diseases for both mother and baby.

There is still much research to be done that could help identify more preventative actions and develop more understanding for this challenging condition. There have been major advances in the information available on ICP in the past decade and it continues to grow.

As with most medical conditions, there really is no ceiling to the amount of information available on the topic. For more information, check out the following resources:

Dixon PH, Williamson C. The pathophysiology of intrahepatic cholestasis of pregnancy. Clin Res Hepatol Gastroenterol (2016), http://dx.doi.org/10.1016/j.clinre.

Jones, Pip. "Obstetric Cholestasis In Pregnancy: Symptoms And Treatment." The Huffington Post UK. N.p., 14 Aug. 2014. Web. 11 Feb. 2016. http://www.huffingtonpost.co.uk/2014/08/14/obstetric-cholestasis-in-pregnancy-symptoms-and-treatment_n_7359240.html.

Kim, Steven. "Obstetric Cholestasis: Is This Complication Dangerous?" Healthline. N.p., 18 Sept. 2015. Web. 11 Feb. 2016. http://www.healthline.com/health/pregnancy/obstetric-cholestasis.

Rigby, Fidelma B. "Intrahepatic Cholestasis of Pregnancy." Medscape. N.p., 23 Apr. 2014. Web. 11 Feb. 2016. http://emedicine.medscape.com/article/1562288-overview#a.


Photo credits: momjunction.com http://cdn2.momjunction.com/wp-content/uploads/2014/10/Obstetric-Cholestasis-454x255.jpg

https://upload.wikimedia.org/wikipedia/commons/thumb/3/32/Diagram_showing_the_position_of_the_distal_bile_ducts_CRUK_348.svg/2000px-Diagram_showing_the_position_of_the_distal_bile_ducts_CRUK_348.svg.png

Myocardial Infarction (Heart Attack)

By: BigFudge

Breast cancer organizations in the United States receive more funding than any other disease,
despite the fact that Heart Disease is the number one killer in the United States. Heart Disease
kills more than ten times as many people as breast cancer, while breast cancer organizations
receive about 5 times the amount of funding compared to heart disease (6). One fatal result of
heart disease is a heart attack, which the medical community calls a myocardial infarction (MI).
Many have heard of a heart attack, but a large proportion of them do not know exactly what they
are.

To understand what is going on in a heart attack, we need to understand the basics of the heart in normal situation. The heart pumps the blood around the body, bringing nutrients and oxygen to
all the cells in your body. Because the cells can’t use any nutrients from the blood on the inside
being pumped, the heart has very specific blood vessels that receive the freshest blood. These
blood vessels go around the heart, making sure it is always supplied with oxygen.

The way the heart pumps blood is very similar to the way one pushes toothpaste out of the tube:
from the bottom of the tube. The only difference is the mechanical action pushes the blood in
the heart from the top to bottom, and then out. As for the actual contraction, the cells use tiny
electrical currents to contract. As the electricity travels top to bottom, the heart contracts, forcing
blood to get pushed out. It is important to know that this electrical current is very organized and
travels and a very specific pattern in healthy individuals. Thus, the blood circulates and the body
and heart is happy.

Understanding a myocardial infarction goes back to the blood vessels surrounding the heart,
because the heart cells cannot receive oxygen from the blood inside being pumped. Before a
heart attack even happens, the blood throughout the body has plaque and fat naturally circulating.  If there is too much plaque and fat in the blood, it will deposit on the walls of the vessels, limiting the blood flow through it. Fat and plaque can also stick together and form little balls which can become lodged and cut off blood flow as vessels become narrow, which is called ischemia. An MI is where these fat and plaque deposits cut off blood flow to the blood vessels surrounding the heart, preventing blood from oxygenating the heart tissue. Without the oxygen from the blood, the heart tissue begins to die in the area affected. In severe heart attacks, damage to the heart from ischemia progresses and the electrical conduction, which is normally extremely organized, becomes extremely chaotic. This causes the heart to quiver, rather than rhythmically pumping. Blood stops moving, and the body runs out of oxygen, including more heart tissue. Net result: death.

Signs and symptoms are provided in textbooks, but in reality, they are very diverse and vary
person to person. Most commonly, patients express the following complaints: chest pain which
radiates to other parts of the body, profuse sweating, nausea, vomiting, shortness of breath or
difficulty breathing, and/or abdominal pain. Some show none of these signs, and an MI is
diagnosed by an electrocardiogram or levels of troponin in the blood.

As for treatments, there are anticoagulants like heparin and coumadin, and platelet aggregation
inhibitors like aspirin. Nitroglycerin is commonly prescribed to patients who have a history of
heart problems, and makes the blood vessels bigger which can alleviate the chest pain associated. Antihypertensives like Lisinopril and Amlodipine are showing limited long term benefits (5). Improvements to diet and activity level are important, both to prevent initial and future MI’s. Once an MI is discovered within the hospital, it is critical to get the patient to a catheterization lab, where there are a few options. One option is using blood vessels from elsewhere in the body to replace or redirect the blood flow around the blockage. Another way is to put a stent in, a metal object which forces the vessel wide enough for blood flow. Lastly, they can pass a wire through the blood vessels and destroy the clot mechanically or with chemicals.

According to the American Heart Association, Mayo Clinic, and the National Heart, Lung, and
Blood Association, the best way to prevent an MI is through diet and exercise (1) (3) (4). A
healthy lifestyle may not completely prevent it, especially with a family history of heart disease,
but use of blood thinners is more common to prevent it. Avoiding other risk factors is important
as well, including but not limited to smoking, drinking, stress, and lack of sleep,

Here are some numbers to scare you into making healthier choices. According to the CDC, heart
disease claims over 610,000 victims every year in the United States alone, attributing to over a
quarter of all the deaths in the country. Furthermore, “Every year about 735,000 Americans have
a heart attack. Of these, 525,000 are a first heart attack and 210,000 happen in people who have
already had a heart attack” (2). They go on to note that almost half of the country has at least
one high risk factor for heart disease, such as high blood pressure, high cholesterol, or smoking.

Hopefully by now you get a sense of what a myocardial infarction is, some common signs, and
some treatments. If the numbers of how prevalent didn’t scare you, millions of americans share
the same disposition. Now I recognize that not all have access to the information or the financial
means to necessarily act on this, but that doesn’t mean you can’t use this information to help
your loved ones. I should also note that I am not saying breast cancer shouldn’t receive less, but
merely pointing out the discrepancy in how common the diseases are.

Bibliography

1) American Heart Association. (2014, April). How to Help Prevent Heart Disease At
Any Age. Retrieved February 01, 2016, from http://www.heart.org/HEARTORG/HealthyLiving/HowtoHelpPreventHeartDiseaseAtAnyAge_
UCM_442925_Article.jsp#.VqoFLIrLIU

2) Center for Disease Control. (2015, August 10). Heart Disease Facts. Retrieved February
01, 2016, from http://www.cdc.gov/heartdisease/facts.htm

3) Mayo Clinic. (2014, November 15). Heart attack. Retrieved February 01, 2016, from
http://www.mayoclinic.org/diseasesconditions/heartattack/basics/prevention/con20019520

4) National Heart, Lung, and Blood Institute. (2015, November 6). How Can a Heart Attack
Be Prevented? Retrieved February 01, 2016, from http://www.nhlbi.nih.gov/health/healthtopics/topics/heartattack/prevention

5) Psaty, B. M. (2003). Major outcomes in high-risk hypertensive patients randomized to
angiotensin-converting enzyme inhibitor or calcium channel blocker vs diuretic: The Antihypertensive and Lipid-Lowering Treatment to Prevent Heart Attack Trial
(ALLHAT). American College of Physicians Journal Club, 139 , 7. Retrieved February
11, 2016, from acpjc.acponline.org/Content/139/1/issue/ACPJC20031391007.htm

6) Vox. (2014, August 20). The truth about the Ice Bucket Challenge: Viral memes
shouldn't dictate our charitable giving. Retrieved February 01, 2016, from
http://www.vox.com/2014/8/20/6040435/alsicebucketchallengeandwhywegivetocharitydonate

Long QT Syndrome: Scared to Death

By: Pretty Momma

Imagine yourself as the parent of a child. Your hopes and dreams take shape as you see them grow and conquer their fears. You feel success from their successes and when they fall your heart aches to console them. Imagine yourself the parent of a young teenager. You see the frustration in them on a daily basis, trying desperately to cope with expectations, stress, and pressure in a rapidly changing environment, while they themselves are racing to grow into their own shoes. Imagine yourself as a proud, attentive mother of an athletic teenage son nearing the prime of his life. One morning you find that your son has slept in. You call and knock at his door to no response. You open the door, and panic, finding the son you have raised and nurtured, cared for, and disciplined lying lifeless and cold; a result of Sudden Arrhythmia Death Syndrome. Heart conditions such as Long QT Syndrome need to be advocated more for patient education to raise awareness in preventing such sudden deaths.

Long QT syndrome is a condition that affects the heart's rhythm that can cause fast and chaotic heartbeats. The heart can only beat erratically for so long before it causes sudden death. Prolonged QT, “LQTS” can be an inherited dormant error in a person’s genetic code or can be acquired due to certain medications and medical conditions. Inherited LQTS has been associated with 17 genes so far, with hundreds of mutations. Although genetic test can identify those with this disease, it does not pick up 20% of people who do have the disease. A known parent with LQTS has a 50% chance of passing the gene down to their child. LQTS may also be acquired. Acquired LQTS can be caused by certain medications of medical conditions. There are more than 75 medications that are known to lengthen the QT interval causing drug induced Long QT Syndrome (Mayo).

Often LQTS is discovered by accident by being picked up on an ECG. An ECG measures the electrical impulse as they travel through the heart. Long QT syndrome results from abnormalities in the heart’s electrical charging system (Mayo). Imagine each heart muscle has tiny holes called ion
channels. These holes open and close to allow important substances (sodium, calcium and potassium) to flow in and out of the heart muscle cells. In LQTS the holes in the cells that allow these important substances either do not properly open and close, or there is not enough holes to allow for the proper amount of substances or more through the cell to create the heart’s electrical activity (NHLBI).

A person with LQTS may not experience any symptoms and may be diagnosed posthumously. When diagnosis does occur it is usually after a person has some type of event such as: unexplained fainting, drowning or near-drowning (due to fainting while swimming) or unexplained cardiac arrest (NHLBI). This could cause a patient to seek diagnosis; however the first symptom could be the only symptom as LQTS can cause sudden death.

Treatments include education for awareness, lifestyle changes and medications. Lifestyle changes include avoiding medications that could cause prolonged QT intervals, staying well hydrated during illness, reducing loud or startling noises (including alarm clocks), staying away from situations that make you angry or excited, and avoiding prolonged strenuous activity (especially swimming). The most common medication class used for treatment is beta blockers. These drugs slow the heart rate and work by blunting the way the heart reacts to adrenaline, which can cause the heart to beat faster in times of fear, stress and/or exertion (Mayo). LQTS cannot be cured but these treatments can help to prevent these dangerous arrhythmias.

Long QT syndrome is an under-diagnosed disorder. The prevalence of LQTS is difficult to estimate. It may be expected to occur in 1 in 10,000 individuals. LQTS is more prevalent in female patients and usually presents in childhood, adolescence and early adulthood. Sudden death occurs more in boys than girls. LQTS is thought to cause about 4,000 deaths in the United States each year (Sovari).

To reduce the cases of sudden death by LQTS, first degree family members should be offered genetic testing, clinical evaluation, and treatment with the ultimate goal to prevent sudden death (Statton); this will identify those who have the genetic code for LQTS so they may take preventative measures to reduce their chance of this deadly arrhythmia. Raising awareness of this disease is paramount for individuals to gain the knowledge they need in order to watch for the tell-tale signs and symptoms in themselves and their family members. Once this disease is well known we can start to identify those who carry the gene, and we can create personalized medicine for each individual. This would help reduce the number of children suddenly dying at the hands of this disease.

References

Mayo Clinic Staff. (2015, October 27). Long QT syndrome. Retrieved February 10, 2016, from <http://www.mayoclinic.org/diseases-conditions/long-qt-syndrome/basics/definition/con-20025388>

NHLBI. (2011, September 21). Long QT Syndrome. Retrieved February 10, 2016, from
<https://www.nhlbi.nih.gov/health/health-topics/topics/qt>

Sovari, A. A., MD. (2015, December 31). Long QT Syndrome. Retrieved February 10, 2016, from <http://emedicine.medscape.com/article/157826-overview>

Statton, EL, IM Weston, K. Cederquist, J. Jonasson, BA Jonasson, S. Mörner, A. Norberg, P. Krantz, and A. Wisten. "Genetic Screening in Sudden Cardiac Death in the Young Can save Future Lives." Int J Legal Med (2015): 59-66. Jan. 2016. Web. 10 Feb. 2016. <http://www.ncbi.nlm.nih.gov/pubmed/26228265>

Shingles (Herpes zoster)

By: The Patient

Shingles is a nerve pain that usually becomes painful blistering rash on the skin. Shingles is caused by zoster virus, the same virus that causes chickenpox.

Shingles is reactivation of the chickenpox virus. When you have chickenpox as a young child the virus stays inactive, it becomes a dormant in certain nerves in the body. Shingles occur after the virus becomes active again years later. The virus is activated when stress, aging, certain diseases and medicine weakens the immune system. Shingles can develop in any age group but usually develops in people who are 60 years and older and had chickenpox before they were one year old. Statistic has shown that one in three people will have shingles. Symptoms can happen in stages before any rash appear, usually it starts with one-sided pain, tingling or burning sensation, itching, flu like symptoms and headache. When rash appears it looks like red patches on the skin or small blisters that can stay on the skin for 2 to 3 weeks. The rash is usually around the spine, belly area and chest area but it can also be around face, eyes, mouth, ears and neck. Sometimes the blisters can leave permanent scars and nerve pain can be long-term. Shingles is treated with antiviral and pain medications. If detected in early stage shingles can be treated with antiviral medication to help with rash and pain relief. Shingles cannot be passed on unless a person is in direct contact with liquid from the blisters and didn’t have chickenpox as young child or chickenpox vaccine.

Shingle vaccine is recommended for people 60 and older, younger than that will need a prescription from the doctor.

Work Cited:

PubMedHealth. (2015, November 19). Shingles. Retrieved February 09, 2016, from http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001861/

WebMD. (2014, September 11). Shingles. Retrieved February 10, 2016, from http://www.webmd.com/skin-problems-and-treatments/shingles/shingles-topic-overview

Cdc. (2015, August 05). Prevent Shingles. Retrieved February 10, 2016, from http://www.cdc.gov/features/shingles/

Dental Caries

By: Seahawks Gal

Most people do not know what the word caries means. Dental Caries is another word for tooth decay or cavities. In the United States children between the ages of 6-19, with untreated dental caries was 16.2% during the years 2005-2008, and for adults over the age of 19 with untreated dental caries that were untreated were 23.7%. Dental Caries is a currently huge problem in the United States. Many people have a lack of knowledge, along with not caring or taking proper care of their teeth. Dental caries is one of the most common diseases seen in the human body second to the common cold. There must be more education taught to try and prevent this problem. 

Dental caries is a clinical term for tooth decay. Dental caries starts as buildup of plaque that is formed by tiny bacteria and food particles built up on the tooth surface. Bacteria adhere to the tooth surface in a biofilm called dental plaque. The two main types of bacteria responsible for most tooth decay is Streptococcus Mutans and Lactobacillus. A professor at a University says "Teeth become susceptible to decay when the enamel is softened.”(Academic Onefile) Although there are different types of bacteria that cause tooth decay there are several ways to both treat it and prevent it.

I didn’t realize how serious of a problem tooth decay was in this country until I went to school for dental assisting ten years ago. After working in both pediatric dentistry as well as oral surgery I have seen some of the worst cases both in children as well as adults. I have also seen firsthand how quickly tooth decay can develop and how bad it can get in a short amount of time. Dental caries is a topic that more people need to be aware of and more education needs to be provided about it.

Statistics show that only 56.8% of women and 49% of men actually follow the ADA recommended guidelines and brush their teeth twice a day, along with flossing once a day and using fluoridated mouth wash. I have seen severe dental decay in children as young as 10 months and if not taken care of and prevented this can lead to a life time of dental problems. “Among 4-year-olds in 2005, approximately 37 percent of children had at least one decayed baby tooth. On average, there were 1.84 decayed, missing or filled baby teeth, of which 84 percent comprised of untreated dental decay.”

Tooth Decay-Treatment Overview

Starting at the age of about one when a child gets their first teeth it is vital to start good oral hygiene. Children should be seen by a Pedodontist as soon as they get their first tooth and continue to see a dentist every six months for regular checkups, cleaning and x rays. At the child’s first dental appointment their dentist will cover proper nutrition, proper brushing technique, oral habits as well as any concerns the parent may have. (Your Child's First Visit to the Dentist) Children should also have help with brushing until about the age of eight or when they can write cursive because before that they lack the ability to reach all areas that need to be brushed properly. (“What Is Good Oral Hygiene?") It is essential that parents make it a priority to teach their children good dental habits when they are young, so they are able to continue with good oral hygiene throughout their adult lives.



Untreated tooth decay can lead to a lot of more serious problems. A simple cavity that may just need a filling, if left un treated can lead to needing a root canal which involves removing the nerves from the tooth just like you would in trying to kill a tree. This process is one option to try and save the tooth. Another option is a crown placed over the tooth, or even extraction of the tooth. Also if dental caries is left untreated it can lead to the tooth becoming infected which can spread to other parts of the body through the blood stream. As we can see dental decay is nothing to mess around with as it can be very serious.

As we can see tooth decay also known as dental Caries is a very serious problem. This is a problem that affects people all over the world on a day to day basis. Dental decay can be easily prevented with the use of good oral hygiene. If a person does develop dental decay they need to make sure it is properly taken care of as soon as possible to avoid further problems. Simple steps can be taken to keep your teeth looking and feeling their best. With the proper knowledge and resources there should be no excuse for so many people to be living with dental decay which is both unattractive as well a painful and dangerous.

Work Cited

Aarow Peter, Raheb Joseph, Miller Margret. “Brief oral health promotion intervention among parents of young children to reduce early childhood dental decay.” BMC Public Health. 20 March. 2014. Academic Onefile . Web. 08 Feb. 2016

Edelstein Burton. “New approach needed to reduce caries in children” Public Health Reports. July-August 1997.Web. Academic Onefile. 08. Feb 2016

"Foods and Drinks Best for Your Teeth." WebMD. WebMD, n.d. Web. 09 Feb. 2016.

Journal of family health care. “Early Nutrition and Dental Health” June. 2009. Pavilion Publishing and Media Ltd. Web. Acedemic Onefile. 09. Feb. 2016.

"Tooth Decay-Treatment Overview." WebMD. WebMD, 10 Dec. 2014. Web. 10 Feb. 2016.

"Your Child's First Visit to the Dentist." WebMD. WebMD, 04 Jan. 2014. Web. 09 Feb. 2016.

"What Is Good Oral Hygiene?" Oral Hygiene Basics. N.p., n.d. Feb. 10 Feb. 2016.

Sickle-Cell Disease

By: OMGmbz

Affecting approximately 90,000 to 100,000 Americans, Sickle Cell Disease (SCD) is a genetic disorder that affects hemoglobin in red blood cells. Though commonly found in people of African, Hispanic, Mediterranean and Middle Eastern ancestry, SCD is relatively rare. Because of its rareness, doctors may not know how to properly treat this disease or how to generate a cure. Nevertheless, more information about the disease is surfacing. Information such as the cause, treatment, and how common it is will help those affected better understand their disease and potentially improve their quality of life.

In order for your red blood cells (RBC) to carry oxygen to the rest of your body, the hemoglobin protein found in RBC must be soluble. Hemoglobin transports oxygen from the lungs to the rest of the body. Normal hemoglobin (hemoglobin-A) is smooth and round, allowing easily movement through the blood vessels. In people with sickle cell disease, there is a mutation in the hemoglobin-beta gene found on chromosome 11, which results in the production of abnormal hemoglobin molecules (hemoglobin-S). When hemoglobin-S is deoxygenated, interaction with other hemoglobin cells become hydrophobic, which trigger polymerization of deoxygenated hemoglobin-S allowing them to stick together. This creates their long, rod-like shape. These hemoglobin structures cause RBC to become stiff, maintaining their sickle shape. These irregular shaped cells can stick to the walls of the blood vessels, which can slow or block blood flow and oxygen to the rest of the body. It is like trying to spray water and sand through a hose. Some will get through, but eventually the sand will stop the water from escaping.

Some clinical manifestations of sickle cell disease include anemia, periodic pain, frequent infections, delayed growth, and vision problems. Anemia is a lack of healthy RBC in the blood. Sickle cells are fragile due to its shape. They break apart easily and die, leaving your blood with inadequate RBC supply. Because sickle cells die at a faster rate than normal RBC, a person with SCD is left with lasting anemia. This decreases the amount of oxygen in your body, which in turn can cause fatigue and potentially organ failure.

Episodes of pain can occur because sickle cells can block blood flow in tiny vessels in your chest, bones, muscles, and joints. Some people experience this pain for up to a few hours, while others experience it up to weeks. Depending on the severity, some people may need to be hospitalized.

Due to lack of oxygenated blood to the organs, the immune system may also be compromised. Organs such the spleen plays a vital part in your immune system. It helps fight infection. People with SCD are more prone to infections. In addition, vision problems can occur because tiny blood vessels to your eye can be clogged by sickle cells. This blockage can damage the retina, which is the part of your eye that processes images.

Because this is a genetic mutation of the hemoglobin- beta gene, it can be passed on to offspring. It is an autosomal recessive inheritance, which means that both parents must pass on the mutated gene in order for the child to be affected. If only one parent passes on the mutation, then the child will produce both normal and sickle cells. Though they have sickle cells in their blood, they usually do not show any symptoms.

As previously stated, approximately 100,000 Americans have SCD. The number of cases in the world is unknown. However, according to the CDC, SCD occurs in 1 out of every 500 African-American births, 1 out of every 36,000 Hispanic-American births, and 1 in every 12 African-American.

Unfortunately, there is no cure for SCD and because it is a genetic disease, there is no way of preventing it if you have the mutated gene. However, there are some treatments that could subdue the symptoms of SCD. Bone marrow transplant, though very difficult process and procedure, could help for the body to produce healthy RBCs, which can reduce some of the symptoms of SCD. Antibiotics and vaccines are used to help fight infections due to the compromised immune cells. Doctors may begin to administer antibiotics as early as 2 months and continue administering it until they are 5 years old. Pain relieving medications are used when patients are experiencing episodes of pain from the disease.

A new drug being studied is Hydroxyurea. Studies suggest that it could help reduce the frequency of pain and the need for blood transfusions. It seems to work by stimulation the production of fetal hemoglobin, which is found in newborns. It helps prevent the formation of sickle cells. However, this is still being tested.

Interventions can also be taken to help reduce the symptoms and prevent other conditions. Maintaining a healthy diet may reduce the risk of a stroke due to blockage. Exercise could increase circulation, and help reduce pain. Avoiding infectious areas and maintaining cleanliness could help prevent infections among other things.

It is important to understand as much as possible about the disease. Though there is no cure and it cannot be prevented, education can help those with SCD live a sustainable lifestyle. There are many sources that could help those with the disease deal with its ramifications. Studies today are focused on finding a way to alter this mutation, and hopefully prevent this disease.

References

Brousseau, D. C., Scott, J. P., Badaki-Makun, O., Darbari, D. S., Chumpitazi, C. E., Airewele, G. E., Panepinto, J. A. (2015). A multicenter randomized controlled trial of intravenous magnesium for sickle cell pain crisis in children. Blood, 126(14), 1651-1657. doi:10.1182/blood-2015-05-647107

Data & Statistics. (2015, July 08). Retrieved from http://www.cdc.gov/ncbddd/sicklecell/data.html

Epstein, F. H., & Bunn, H. F. (1997). Pathogenesis and Treatment of Sickle Cell Disease. New England Journal of Medicine N Engl J Med, 337(11), 762-769. doi:10.1056/nejm199709113371107

Rees, D. C., FRCP, Williams, T. N., PhD, & Gladwin, M. T., MD. (2010). Sickle-cell Disease. The Lancet, 376(9757), 2018-2031. doi:10.1016/S0140-6736(10)61029-X

Schultz, C. L., Tchume-Johnson, T., Schapira, M. M., Bellamy, S., Smith-Whitley, K., & Ellison, A. (2015). Adherence to prompt fever evaluation in children with sickle cell disease and the health belief model. Pediatric Blood & Cancer Pediatr Blood Cancer, 62(11), 1968-1973. doi:10.1002/pbc.25634

Sickle cell anemia. (2014, June 11). Retrieved from http://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/basics/prevention/con-20019348