Glycogen storage disease type II

Pompe Disease is also referred to as GAA Deficiency, Glycogenesis Type II, and Glycogen Storage Disease Type II. It is a lysosomal storage disorder that must be passed down by both parents due to the fact that it is a recessive mutation in genes (Type II, 2014). As a lysosomal disorder, Pompe Disease is the inability of lysosomes to breakdown glycogen into glucose and causes the glycogen to build up inside the lysosome (Pompe, 2010). The glycogen build up has specific effects on the muscles of the body I chose Pompe Disease because of its effects on the muscular system. Also, I feel that, because of its specific effects directly on the lysosomes of cells causing it to be a rare disorder, it does not receive enough attention.…

Pompe Disease Plan For my graded unit I have chosen a genetic disorder called Pompe disease as my topic to research and write about. After looking at a number of different genetic disorders, I have chosen Pompe disease. This topic relates to the cell biology aspect of my course, where in cell biology we study the structure, the function and the physiological properties of a cell and through out this report I will be writing about the cells that are affected by pompe disease. This report will…

Gaucher Disease In 1882 a French physician, Philippe Charles Ernest Gaucher, first discovered Gaucher disease in a 32 year old woman; she had a swollen liver and spleen. Gaucher disease is a genetic disease meaning it is an abnormality in an individual’s DNA. Gaucher disease (GD) is described as an inherited disorder known to affect many of the body’s organs, such as the liver, spleen, bones, bone marrow and in severe cases the brain. It is also the most common lysosomal storage disease.…

Patients of Gaucher’s disease possess Beta-Glucocerebrosidase enzymes that are deficient in their ability to breakdown glycolipid resulting in enlarged and irregularly shaped cells. Enlarged Gaucher’s cells can cause tissue invasion, posing threatening health problems such as hepatomegaly and splenomegaly as well as glycolipid deposits in the kidneys, lungs, bone marrow, and brain. The symptoms of this autosomal recessive disease, as Dr. Roscoe Brady discovered, are due to a mutation in the GBA…

On April 15th in 1912, one of the most tragic shipwreck happened. The Titanic ship sunk under the Atlantic Ocean after colliding with an iceberg. A lot of people died during the accident. Small number of available lifeboats was one of the main reasons that led to such a high number of deaths. Such factors as sex, class, age, and others also significantly contributed to the likelihood of survival. Introducing different statistical methods, I will classify what sorts of people had a better chance…

With the advancement of medicine and technology, it is evident that there is a growing elderly population in the developed countries such as the United States. Perhaps, some casually phrase it as the “baby boomers getting older.” My experience as a nurse taught me that despite developments in modern medicine, there are challenges such as elderly independence and prevention of falls along with the combination of polypharmacy and multiple comorbidities posing as risks. The Center for Disease…

Denver Developmental Screening Tool II: Explanation and Implementation The Denver Developmental Screening Tool II (DDSTII) is a revision of DDST and DDST-R and is the most widely used developmental screening tool for examining children. It was developed at the University of Colorado Medical Center in Denver, Colorado; hence it’s name. It screens a child for cognitive delays and behavioral problems from birth to 6 years of age. The sooner the delay is picked up the sooner the child can get…

were positives and 3 were false positive. Depending upon the effectiveness of the PET/CT or CT for that matter – one out of three patients that did not have extrahepatic tumour was denied surgery. When it comes to sensitivity, PET was termed to be less sensitive than CT and SPIO-enhanced MR imaging in the detection of LM. It was concluded that the modality of the PET has been the most sensitive non-invasive imaging to detecting LM. Not many of the studies part of meta-analysis reported lesion by…

According to James Blackwell, and Carol Niederhauser “the traditional screening tool, the Denver Developmental Screening Test-II (DDST-II),is lacking in sensitivity and specificity”, this being one of the test that children take when they are young. Next would be asking the parents about their history, and from this doctors can get a better idea of what might be happen and what to look for. James Blackwell, and Carol Niederhauser also mention the “Ages and Stages Questionnaire”, which is a…

particularly used when conducting FBA. Theoretically, however, functional relation should reflect current empirically based theory on cause –effect relations. (Shiver, 2001). Cultural background knowledge is needed when conducting FBA. Often this is essential part that is missing with assessments. Guidelines for conducting and FBA often fail to provide educators with structure for taking into consideration the students’ cultural perceptive of their behavior. The impact of cultural backgrounds…