Brugada syndrome

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    Brugada Syndrome

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    rare cardiovascular disease known as Brugada syndrome. Not only will I discuss the disease itself, but I will also discuss the limited treatment options and the abundant amount of research and scientific facts found by several different organizations on whether or not we can predict the risks of this disease. Brugada syndrome is a disease that is characterized by an abnormal heartbeat. This cardiovascular disease mostly occurs in the later years of one’s life, it is overwhelmingly more common in men than women, and it is most likely to be seen in South-east Asia. This disease consists of a “ST segment elevation in the right precordial electrocardiogram (ECG),” which is some cases can lead to a death related to cardiovascular issues. According to researchers, if the patient’s ST segment elevation is 2 mm or higher and they have “a negative T wave in right precordial leads,” this is indicative of Brugada syndrome. Another indicator of this disease would be that the electrocardiogram would show change occurring with the electrical activity of the heart and it will oftentimes be concealed. One way to fix the concealed ECG would be to conduct a sodium channel blocker. Studies were…

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    Williams Syndrome

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    This is a test to screen a pregnancy to determine whether a baby has an increased chance of having specific chromosome disorders. The test examines the baby's DNA in the mother's blood. Williams Syndrome Williams syndrome is a rare disorder that can lead to problems with development. It is passed down in the offsprings of families. One of the 25 missing genes is the one that produces elastin, a protein that allows blood vessels and other tissues in the body to stretch. It is likely that…

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    Rhett Disease Case Study

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    disabilities, what sickle cell does in children with neurodevelopment disorders, and what psychiatric disorders and down syndrome does in adolescents and young adults. This paper will only contain abstracts of my own doings for each journal I have obtained for this study. I will not be going into depth with every single disorder that is within a neurodevelopment disorder such as Mendelsohn’s Syndrome or…

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    Angelman Syndrome

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    Angelman syndrome is a rare genetic disorder that affects around 1 in around 12,000-20,000 live births and affects both males and females equally. Angelman syndrome is very often misdiagnosed as autism or cerebral palsy. Angelman syndrome is not an inherited disease, and is instead caused by a change in the E3 ubiquitin protein ligase gene (UBE3A) on the maternal chromosome 15. This change prevents the chromosome from functioning properly. It occurs as a random event during the formation of eggs…

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    Williams Syndrome Essay

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    Overview: What is Williams Syndrome? Definition: Williams Syndrome is a genetic disorder, resulting from the deletion of 26 or more genes one chromosome number 7 (Mervis et al., 2000). That seemingly small loss can affect numerous parts of a person’s physical and mental health, as well as social behavior and sensory perception (Genetics Home Reference, 2014). Diagnosis: Williams Syndrome is a genetic condition that a child is born with and it can impact a child’s prenatal development as well…

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    Williams Syndrome (WS) is a rare genetic disorder that affects approximately 20,000 people in the United States. This condition is present at birth. The causes of Williams syndrome is due to the deletion of 26 plus genes on one of an individual’s chromosome #7. Individuals born with Williams syndrome share a number of common neurological, medical, and behavioral characteristics as well as common facial features. Some of the individuals experience mild cardiovascular disorders that may…

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    Adrienne Bashista Speech

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    The speaker Adrienne Bashista gave a very insightful speech about what Fetal Alcohol Syndrome is and how it is caused. Before our speaker told us about her son, I had very little knowledge about what FASD was. I now realize how severe FASD is and how even the slightest consumption of alcohol can affect a fetus during pregnancy. I became aware that FASD is a rare syndrome that only 2 to 5 percent of the population have. This statistic surprised me due to a large amount of woman who may drink when…

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    Angelman Syndrome Description of the Disease An extremely rare and uncommon disease known as Angelman Syndrome is a very complex neurodevelopmental and monogenic disorder (Bailus, 2014). The term neurodevelopmental refers to the shape, reshape, state and generation of the nervous system during the embryonic stages of life, while the term monogenic can be explained as a disease, which is controlled and inherited, by a single pair of genes (Gentile, 2009). It is estimated that Angelman Syndrome…

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    Fragile X Research Paper

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    Fragile X is a syndrome that I had little to no knowledge about before the presentation that Denise Devine gave us. From the presentation, I learned an array of information that will be helpful in my future. Denise touched upon a few topics that are important when understanding Fragile X syndrome. Fragile X the most common forms of mental impairment and is an inherited syndrome that is one of the leading developmental disabilities. One significant fact that is surprising is that Fragile X became…

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    Dr Keith Case Summary

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    hip is somewhat reduced with external and internal rotation being tender and internal rotation particularly being limited at about 5 degrees. There is no definite synovial thickening in either of his knees or in his ankles. He is somewhat tender over the left suprapatellar bursa on the left knee, but he cannot appreciate any definite synovial thickening or effusion in either knee. The exam of the MTP joints in his feet, again reveals some tenderness but no definite synovial thickening, I can…

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