Gaucher Disease

Gaucher Disease by Brooke Gentry

Gaucher disease is a rare, inherited metabolic disorder. It is also the most common of the lysosomal storage disorders. It is caused by the deficiency of the enzyme glucocerebrosidase.This results in the accumulation of dangerous quantities of lipids throughout the body.These lipids, specifically the glycolipid glucocerebroside, build up within the bone marrow, spleen, and liver.

The symptoms (or etiology) associated with Gaucher disease vary greatly. Some people will develop few or no symptoms (asymptomatic), while others may have serious complications. Common side effects of Gaucher disease include an abnormally enlarged liver and spleen, low levels of circulating red blood cells, low levels of platelets, and skeletal abnormalities.Three separate forms of Gaucher disease have been identified and are distinguished by the absence of, or the presence and extent of, neurological complications. All three forms of Gaucher disease are inherited as autosomal recessive traits.

Glucocerebrosidase is an enzyme found within lysosomes.These enzymes are responsible for breaking down nutrients including fats like glycolipids.Those with a deficiency in glucocerebrosidase will accumulate to many glycolipids ad contract Gaucher disease.

To treat Gaucher disease, an intravenous glucocerebrosidase enzyme replacement treatment is currently available. However, this treatment must be used for one's entire life, as there is no getting rid of Gaucher disease. Additionally, this treatment costs 200,000 dollars a year.

After doing much research about a possible cure for Gaucher disease, I still did not have any definite answers. However, because the ‘Gaucher lipids’ build up in the bone marrow, I would propose that those with the disease seek bone marrow transplants. This is a very risky procedure, and should be approached with caution. If an individual with Gaucher disease already has a low chance of survival, they may as well try everything they can, including bone marrow transplants. 

source: http://www.webmd.com/a-to-z-guides/gaucher-disease-symptoms-causes-treatments

PERCY LAVON JULIAN

     Percy Lavon Julian


Percy Levon Julian contributed medical discoveries with his study on synthesizing  Physostigmine which is a chemical compound.
His study became successful in 1935.
His discovery is used to help treat patients with Glaucoma.
The picture above shows Percy Lavon Julian's Steps into synthesizing Physotigmine

Percy Levon Julian lived in Vienna to work with Ernst Spth who was an Austrian chemist to synthesize a variety of naturally
accruing  chemicals. While in Vienna he got his PhD at University of Vienna.
After getting his PhD he returned to De Pauw University in Greencastle Indiana
to become a professor but was denied cause of his race.

During World War Two Percy used soya protein to produce aero -foam which was used to suffocate gasoline and oil fires.
He was also a director of research for the Glidden Company.
Percy Lavon Julian is important to science for medical and safety contribution.
I choose Percy Lavon Julian because I wanted to learn more about his contributions.
and at the time that he lived in his contributions weren't really expected to come from an African American.

Vitamin D

   


      Vitamin D is an essential fat-soluble vitamin that is found naturally in very few foods (i.e cheese, butter, cream, fortified milk, oysters, etc.). Vitamin D promoted calcium absorption in the gut and maintains adequate serum calcium and phosphate concentrations to enable normal mineralization of bone and to prevent hypocalcemic tetany. Vitamin D also plays roles in regulation of the modulation of cell growth, neuromuscular and immune function, and reduction of inflammation. Vitamin D is found as a dietary supplement, in foods such as milk, and from sun exposure to the skin. People with darker skin tones or religious affiliations that require covering of large areas of skin (such as Islam) must be more conscious of their vitamin D intake  especially in colder seasons when people tend to stay inside more and the sun tends to be clouded over.
      If you don't receive enough Vitamin D inyour diet then you'll develop a bone disease called Rickets. It's more common in breastfed infants, older adults, people with little sun exposure, people with dark skin, people with fat malabsorption,  and people who are obese or have undergone gastric bypass surgery.  Other dieases associated with Vitamind Are osteoperosis, cancer, type 1 and type 2 diabetes , hypertension , glucose intolerance , multiple sclerosis, and others.
 
     There have been talks about how much of Serum25 D - the type of vitamin D needed to prevent deficiency- is actually needed. The Institute of Medicine concluded that the amount of Serum 25 needed to maintain is at levels ≥50 nmol/L (≥20 ng/mL). The Institute stated that 50 nmol/L is the serum 25(OH)D level that covers the needs of 97.5% of the population. Also, Serum concentrations >125 nmol/L (>50 ng/mL) are associated with potential adverse effects, such as recieving to much Vitamin D then, becoming deficient in Vitamin D when returning to regular Vitamin D levels.  
Here are the Vitamin D study results

Table 1: Serum 25-Hydroxyvitamin D [25(OH)D] Concentrations and Health* [1]

nmol/L**	ng/mL*	Health status
<30	<12	Associated with vitamin D deficiency, leading to rickets in infants and children and osteomalacia in adults
30–50	12–20	Generally considered inadequate for bone and overall health in healthy individuals
≥50	≥20	Generally considered adequate for bone and overall health in healthy individuals
>125	>50	Emerging evidence links potential adverse effects to such high levels, particularly >150 nmol/L (>60 ng/mL)

* Serum concentrations of 25(OH)D are reported in both nanomoles per liter (nmol/L) and nanograms per milliliter (ng/mL).

** 1 nmol/L = 0.4 ng/mL

Optimal Serum25 intake values have not been established seeing as they might change at each stage in life. The FNB established an RDA for vitamin D representing a daily intake that is sufficient to maintain bone health and normal calcium metabolism in healthy people.

Table 2: Recommended Dietary Allowances (RDAs) for Vitamin D [1]

Age	Male	Female	Pregnancy	Lactation
0–12 months*	400 IU (10 mcg)	400 IU (10 mcg)
1–13 years	600 IU (15 mcg)	600 IU (15 mcg)
14–18 years	600 IU (15 mcg)	600 IU (15 mcg)	600 IU (15 mcg)	600 IU (15 mcg)
19–50 years	600 IU (15 mcg)	600 IU (15 mcg)	600 IU (15 mcg)	600 IU (15 mcg)
51–70 years	600 IU (15 mcg)	600 IU (15 mcg)
>70 years	800 IU (20 mcg)	800 IU (20 mcg)

* Adequate Intake (AI)

       

More Vitamin D info here

Vitamin D info relating to everyday health

     

Breast Milk

Breast Milk
Breast milk also known as human milk is produced from the breasts to be given to the offspring. Milk is the primary source of nutrition in newborns before they are able to eat and digest other foods; older toddlers and infants may continue to breastfeed.

Diabetes

In the stomach carbohydrates are broken down into glucose. That glucose then moves to the blood streams. And, the pancreas releases insulin. Insulin allows glucose to move into cells to release energy. For every glucose is insulin. When glucose and insulin levels are uneven people develop diabetes.

Type 1 Diabetes

Insulin producing beta- cells in the pancreas are destroyed, so no insulin is produced. Carbohydrates are broken down into glucose and travel to cells, but can't get in without insulin. So, glucose level rises, to lower this level the kidneys remove the glucose. 

Symptoms/ Reactions:

• Thirsty
• Genital itching
• Slow healing
• Blurred vision
• Fatigue 
• Weight loss
• Urination

Treatment:

Insulin

Type 2 Diabetes

There is not enough insulin or insulin is not working properly due to over weight/ obesity. Carbohydrates are broken down to glucose and moves into blood stream. The pancreas produces insulin, but not all of the insulin can get  through cells because  they are filled with fat. Glucose and insulin begin to build up and both glucose and insulin levels rise. 

Symptom/ Reactions:

• Thirsty
• Genital itching
• Slow healing
• Blurred vision
• Fatigue 
• Weight loss
• Urination

Treatment:

Dieting, physical activity and medication. 

Diabetes Animation

Links:

Diabetes 1

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001350/

Diabetes 2

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001356/

Explore The Digestive System

Starting from the mouth to the anus, the Digestive system helps to break down the food we consume into smaller pieces so that the body can absorb the nutrients the body needs. The digestive system consists of the mouth, esophagus, stomach, liver, gall bladder, pancreas, small intestine, large intestine, rectum, and anus.

The Mouth:

Digestion first takes place in the mouth. The mouth is the first organ In the  mouth, food is broken down into smaller pieces by the teeth and saliva. Saliva is produce by the salivary glands. Saliva also breaks down starch into mono or disaccharide because saliva contains amylase enzymes that breakdown starch.

The Esophagus:

After food is is broken down into smaller pieces, the food is transported by the esophagus, which is a long tube that goes from the mouth to the stomach. Food is move by the wave-like muscle movement also known as peristalsis. 

The Liver:

Bile is produce in the liver, which helps to break down fats in the small intestine and carries away waste. It also helps with the production of cholesterol and special proteins to carry fat through the body.

The Pancreas:

When food enters the stomach, enzymes such as lipase, which break down fats, help break down other macromolecules such as carbohydrates, proteins and acids. After a rise in blood sugar levels, the pancreas secretes insulin, which regulates the amount of glucose in the body.

The Gall Bladder:

Bile is stored and secretes in the Gall Bladder. It also keeps excess bile when there is pressure in the bile ducts.

The Stomach:

Hydrochloric acid produced by parietal cells  in the stomach helps to kill bacteria and denature proteins. It also helps to store food. Pepsin enzymes starts proteins. Peristalsis helps other enzymes to be release. The gastric pits release gastric acid, protective mucus, and enzymes. Muscular spinsters helps to control the entry of food and the exit of chyme. The hormone PPY, is secreted in the small intestine after meals, that acts as an appetite suppressant.

The Small Intestine:

Divided into three parts the duodenum, jejunum, and the ileum, the small intestine completes the digestion of food molecules. Chyme enters the duodenum. Bile is emptied in the duodenum, which neutralizes the acid from the stomach and emulsifies fats. Pancreas enzymes such as amylase and trypsin released in the jejunum. In the last stage of of the stage of the small intestine ( the ileum) digestion food food takes place. Villi; finger- like projections, help with absorption by increasing the surface area.

The Large Intestine:

Once absorption has taken place in the ileum, the undigested food goes to the large intestine. The large intestine reclaims as much water as possible to the blood, before allowing egestion of the solid feces. By being long and folded,  the large intestine maximizes its surface area for better water absorption. Bacteria breaks down undigested molecules. The large intestine secretes mucus to lubricate the passage of the feces and peristalsis keeps the feces moving.

The Rectum:

Feces is temporary stored in the rectum until it is eliminated through the anus.The rectum is made up of muscular walls that expand to hold feces. When expanded, nerves in the rectum send signals to the brain that lets you know to have a bowel movement.

The Anus:

The last part of the digestive track is the anus. It keeps us continent when we are asleep or unaware of the presence of feces. We rely on the external sphincter to keep feces in until we can it is released.

Videos

Links:

http://www.webmd.com/digestive-disorders/digestive-system

http://science.nationalgeographic.com/science/health-and-human-body/human-body/digestive-system-article/

The Digestive System: How It Works!

Learning about the digestive system is a unique and exciting way to discover the things your body go through on a daily basis. Let's see how it works!

Mouth
The mouth is the beginning of the digestive tract. As a matter of fact, the first time you chew something, digestion starts here. Chewing food breaks down food molecules into smaller food molecules so that it can be digested more easily. Saliva, produced by the salivary glands, mixes with food to begin the process of digestion. The saliva contains an enzyme called amylase, which digests starch molecules into smaller molecules of the disaccharide maltose.

Esophagus
The esophagus is a thick-walled muscular tube that runs from the neck and leads to the stomach. The bolus of food moves through the esophagus with the help of peristalsis, which is a series of muscle contractions and relations which occur along the course of the intestinal tract to push food and waste products through.
Stomach
The stomach is like a sac-lunch-like organ with strong muscular walls. The stomach stores food and prepares it for further digestion. The stomach contains hydrochloric acid as well as gastric juices. The hydrochloric acid in the stomach lowers the pH to around 2, killing bacteria and denaturing proteins. Gastric pits release gastric acid, protective mucus, and enzymes. The muscular spincters control entry of the food exit of chyme (partially digest mixture). The lumen is the space in which food is stored while inside the stomach.
Small Intestine
The small intestine completes the digestion of food molecules. It contains three parts which are called the duodenum, the jejunum, and the ileum. The small intestine continues the process of breaking down food by using enzymes released by the pancreas and bile from the liver. Bile is a compound that aids in digestion of fat and eliminates waste products (stool) from the blood. Peristalsis is also at work in this organ, moving food through and mixing it up with digestive secretions. The duodenum is largely responsible for continuing the process of breaking down food, with the jejunum and ileum being mainly responsible for the absorption of nutrients into the bloodstream. Absorption is the uptake of molecules in the blood and assimilation is how the tissues are carried.

Pancreas

The pancreas aids chemical digestion by producing an alkaline solution rich in bicarbonate as well as several enzymes. These enzymes break down protein, fat, and carbohydrates from the food we eat. Among the pancreatic enzymes are trypsin and chymotrypsin, proteases secreted into the duodenum in inactive forms. 

Liver

The liver has several functions, but its two main functions in the digestive system are to make and secrete bile. Bile contains bile salts, which act as emulsifiers that aid in digestion and absorption of lipids. Bile is stored and concentrated in the gallbladder. The liver also breaks down toxins that enter the body and helps balance nutrient utilization.

Gall Bladder

The gall bladder is a pear-shaped object that just sits under the liver and stores bile (as previously stated). During a meal, the gall bladder contracts, sending bile to the small intestine.

Large Intestine

The large intestine, or colon, is a 5- to 6- foot-long muscular tube that connects the cecum (the first part of the large intestine) to the rectum (the last part oft he large intestine). It is divided into ascending, transverse, and descending portions, each about one foot in length. The colon's chief functions are to absorb water and to store, process, and eliminate the residue following digestion and absorption. The intestinal matter remaining after water has been reclaimed is known as feces. Feces consist of nondigested food (such as cellulose), billions of harmless bacteria, bile pigments, and other materials. The feces are stored in the rectum and passes out through the anus to complete the digestion process.

Rectum

The rectum is an 8-inch chamber that connects the colon to the anus. It is the rectum's job to recieve waste from the colon, to let you kow there is waste to be evacuated, and to hold the waste until evacuation happens. When anything (gas or waste) comes to the rectum, sensors send a message to the brain. The brain the decides if the rectal contents can be released or not. 

Anus

The anus is the last part of the digestive tract. It consists of the pelvic floor muscles and the two anal sphincters. The lining of the upper anus is specialized to detect rectal contents. It lets us know whether the contents are liquid, gas, or solid, The pelvic floor muscle creates an angle betweent he rectum and the anus that stops stool form coming out when it is not supposed to. The anal sphincters provide fine control of stool. The internal sphincter keeps us from going to the bathroom when we are asleep, or otherwise unaware of the presence of stool. When we get the urge to go to the bathroom, we rely on our external sphincter to keep the stool in until we can get to the toilet.

Videos! --->

 Links : http://digestive.niddk.nih.gov/ddiseases/pubs/yrdd/

            http://www.ama-assn.org/ama/pub/physician-resources/patient-education-materials/atlas-of-human-body/digestive-system.page