Symptoms And Treatment Of Pompe 's Disease

40 year old man presents to A&E with lip swelling. Over the next 20 minutes he develops itching of the hands and feet, increasing breathlessness and chest tightness, fall in PEFR (peak expiratory flow rate) to 200l/min, fall in BP to 80/30mmHg and Oxygen saturations are 88% on room air.

Gaucher Disease is a type of lysosomal storage disorder. The importance is that they are meant to keep everything in order. Lysosomes are microscopic organelles that have a primary function to serve as digestion compartments. According to Davidson, (1) “lysosomes help break down many different materials such as fats, proteins, waste products, and more to transfer those compounds to become new cell building materials”. Consequentially, making lysosomes an important factor to our daily functions in life.

Gaucher’s disease is a lipid storage disease similar to Tay Sach’s because its deficiency of a lytic lysosomal enzyme. Gaucher’s disease is in regards to which parts of the body it affects. Tay Sach’s affects the CNS while Gaucher’s affects the spleen and liver. The main treatment option of Gaucher’s is enzyme replacement therapy (ERT). The deficient lytic enzyme (glucoserebrosidase) is injected intravenously and directed toward the lysosomes in

The patient in room four came in the other day for pneumonia and his right leg/foot were extremely swollen with brownish yellow blisters on the surface. He was diagnosed with polio at the age of five and ever since the illness continuously affects his right foot. Since this patient also had venous stasis, or slowed blood flow in the veins, his feet were elevated. With the patient having poor blood flow in his legs, he was put on a fluid restriction of 1200 cc’s a day and a sodium restriction. The fluid and sodium restriction merely helps the heart. When a person hold fluids, it is called edema. Edema can make it more difficult for the heart to function. He also was placed on a dysphagia diet. Before Amy and I could enter the room, we had to put on a gown, face mask, and gloves to insure the infection would not spread. While I was there, I got to assist Amy take off both casts wrapped around the patient's legs.

Green Fluorescent Protein (GFP) is a fluorescent protein found in jellyfish that causes organisms to fluoresce. This protein was the first fluorescent protein to be discovered and has been highly useful in a broad range of cell biology disciplines; because of it’s highly useful reporter genes and the ability to use multicolor protein tracking in living cells it has been useful in many scientific experiments such as E. Coli transformations. There have been many other fluorescent proteins that have been cloned from a wide variety of marine invertebrates, therefore making GFP not the only standing fluorescent protein present. (Shaner 2014). The scientific uses of GFP have included

If my hypothesis is supported, the images of PKCγ-Cγ1 will show the PKCγ spread towards the edges of the cell and be less concentrated in the middle. The images of fascin-FTIC will show that the fascin has moved toward the edges of the cell along with the PKCγ. Layered images will show the overlapping of of PKCγ and fascin, suggesting a strong interaction between the two proteins. A magnified inspection of the edges of the cell will show both PKCγ and fascin have concentrated in the protrusions of the cell

06/02/15 Progress report documented that the patient was unable to come to the appointment due to his physical condition and distance. Phone conversation with the patient was noted. He reported being frustrated that his Klonopin was not filled the last time and was feeling very anxious. He noted mild depression. He was sleeping poorly and noted 4-5 hours of sleep each night and was using a CPAP machine. He was hopeless about his future and had psychomotor agitation. However, he denied any suicidal ideations. His appetite was good and he weighed 427 pounds. He was keeping himself busy and was doing yoga. No side effects from his medications were noted. The patient was advised to continue Pristiq 100 mg daily for depression and was started on Valium 5 mg up to 2 times a day as needed for anxiety.

Introduction: Hunter syndrome is a rare, X-linked disease caused by the deficiency of iduronate 2-sulfatase enzyme- a lysosomal enzyme responsible for a step in the degradation of glycosaminoglycans (GAGs). The disease is characterized by the accumulation of GAGs in all body tissues leading to progressive neurological deterioration, skeletal deformities, limited joints movements, cardiomyopathy, airway obstruction and hepatosplenomegaly. An already available treatment of Hunter syndrome is enzyme replacement therapy by idursulfase which was approved by the United States food and drug administration (US FDA) in 2006 to be taken by slow intravenous (IV) infusion and with a dose of 0.5 mg/kg/week.

What is interesting about the disease is that it is the mutation in a single gene called GBA, in which prevents the production of an enzyme called Glucocerebroside (1). In our BIS 102 class, we have discussed the importance of enzymes since enzymes help speed up chemical reactions, especially in our body since enzymes are vital for our bodies to function. Without enzymes, some reactions may take years even hundreds years to react as with enzymes it may take a fraction of a second. Glucocerebrosidase is need to break down a type of lipid that is found in cell membranes called glucocerebroside (2). Glucocerebroside plays a big role in cell membrane since it links to many important functions such as cell to cell interaction, and regulation within the membrane. However, the liver and spleen tend to over produce glucocerebroside, and needs to be to be reduced into adequate amount to have a normal function, in which the enzyme glucocerebrosidase to degrade some of the lipid away. Gaucher disease prevents with the production of the enzyme, and the lipid will accumulate to a point in which affects the functions throughout

Finally, the enzyme replacement therapy has been limited in Pompe disease and therefore it has led to an evaluation of the pathology of the skeletal muscle which revealed discoveries exposing the new pathogenic mechanism involving the role of autophagy. I believe that understanding this disease will open new avenues for therapeutic targets that will guide researchers toward developing new ideas apart from or in sync to ERT.

Fluorescence imaging is visualization of fluorescent probe labeled processes or structures with the help of various fluorescence imaging techniques such as time-lapse microscopy, confocal microscopy, fluorescence microscopy, etc. In recent years, fluorescence imaging has received much attention especially in the field of biology and medicine due to the increasing availability of fluorescent dyes, proteins, and probes which provides ease to the noninvasive study of many biological processes. Fluorescent labeling using usual organic dyes, fluorescent proteins and lanthanide chelates are the preferred methods due to its low cost, availability and ease of use. However, they posses some inherent drawbacks such as poor photochemical stability, short

Phosphorylase Deficiency is a rare inherited disease where the body is not able to break down glycogen in muscle cells. Glycogen is an important source of energy that is stored in all tissues, especially in the muscles and liver. It is also known as McArdle’s disease. People who get this disease experience fatigue and failure during activities such as jogging, swimming or even walking. It is first present in a person's teens or twenties, but they can appear anytime from infancy to adulthood and experience some symptoms. It is usually diagnosed in adulthood. The National Organization for Rare Disorders states, “The prevalence of GSD-V in the Dallas-Fort Worth, TX area has been estimated at 1:100,000 and the prevalence in Spain has been reported at 1:170,000” (NORD). The condition is caused by a recessive gene. This means that one abnormal copy of the gene is passed from each parent to the affected child. The child will then have inherited two abnormal copies of the gene. People who have

NGLY1 deficiency is a rare genetic disorder that was first discovered in 2012 and has been diagnosed in less than 100 individuals worldwide. This disease is caused by a lack of the enzyme N-glycanase 1, which helps break down defective proteins, explained by Clement Y. Chow, PhD, Assistant Professor in the Department of Human Genetics at the University of Utah. People with this disease tend to experience global developmental delays, seizures, difficulty with movement, problems with liver function, and the difficulty to produce tears. The symptoms of this disease can vary since not all the information has been gathered about NGLY1 deficiency.

Simvastatin is a drug in the statin group. It is used in patients at risk of cardiovascular disease, due to to high levels of cholesterol and low density lipoprotein (LDL). Statins are used to lower LDL levels and subsequently cardiovascular events\citep{pmid23440795}. Patients using statins may experience ADRs involving the muscles, including various levels of myopathy\citep{pmid25069381, pmid24918167}. Statins have a PGx connection with their transporter \textit{solute carrier organic anion transporter family member B1}(SLCO1B1) and target protein\citep{pmid24918167,pmid21355415}.

NRTIs on the other hand, inhibits the mitochondrial DNA polymerase-γ in fat cells, this interferes with the respiratory chain reactions, thus reducing the cells ability to produce energy. As a result, the cell’s ability to oxidise fatty acids declines, causing a build-up of lactic acid and triglycerides within the cell (Sattler, 2008). Currently there are no clinically proven therapies for lipodystrophy and so AIDS patients usually need to change HIV drugs until a suitable combination is found. Lifestyle factors can also be controlled in order to reduce the effects of lipodystrophy, for example, exercising and having a healthy diet. These changes may help reduce fat build up and build muscle.