1) What is the primary cause of death for patients with Duchenne muscular dystrophy?
2) Describe two promising treatments (be specific as to the mechanism of action, not hand waving) for curing patients with Duchenne muscular dystrophy (2 pts).
1) What is the primary cause of death for patients with Duchenne muscular dystrophy? 2) Describe...
1) Explain why elevated blood creatine kinase levels are a good proteomic marker for Duchenne muscular dystrophy. 2) What is a disadvantage of the genomic assay(PCR deletion screen in Duchenne muscular dystrophy)? 3) If you were to do transcriptomics on a patient of Duchenne muscular dystrophy, where would you get the sample and what result would you expect?
Duchenne muscular dystrophy (DMD) is a recessive X-linked disorder, which results in symptoms before the age of 6. A young girl, diagnosed with DMD has a 46 XX karyotype. The young girl’s brother is also living with DMD. Curiously, both parents are normal. Given the information in the question, why does this young girl have DMD? (1 sentence) How does this young girl have DMD? What mechanisms and how did this mechanism lead to this girl exhibiting DMD? (1 or...
1a. A boy has Duchenne muscular dystrophy, an X-linked recessive trait. His maternal uncle had died of muscular dystrophy at the age of 21 years. What is the probability that this child's siblings will be affected? i. It depends whether his mother is a carrier or not ii. 50% iii. 25% iv. 75% v. 0% 1b. Neurofibromatosis type 1 is one of the most common autosomal dominant disorders. A woman with neurofibromatosis type 1 has an unaffected partner. Which of...
1) Explain why immunohistochemical staining for dystrophin protein is patchy in a female carrier? 2)Develop a flowchart for diagnosis of muscular dystrophy (including distinction between the two major types – 2 pts) 3) What is the standard of care for patients with Duchenne muscular dystrophy?
Genetics Worksheet Week 3: Gene Regulation and Epigenetics 1. Duchenne muscular dystrophy is caused by a mutation in a gene that is 2.5 million nucleotides in length and encodes a protein called dystrophin. The dystrophin protein itself is 3684 amino acids in length. Calculate below the approximate size of the mRNA that encodes dystrophin. Approximately what percentage of the gene that encodes dystrophin is intron sequence? The human genome encodes a much greater variety and number of proteins than the...
1.What does an uncoupler do? 2.Cyanide is a potent poison and can cause rapid death in humans. Explain its mechanism! 3.Explain the coupling between the electron transport chain and oxidative phosphorylation. Include a description of the mechanism of ATP synthase PLEASE ANSWER ALL QUESTIONS
Medical error is the third leading cause of death in the US, describe and summarize what benefits from better data and health priorities will create a more reliable healthcare system. Submit 2 to 3 paragraphs with your ideas.
Medical error is the third leading cause of death in the US, describe and summarize what benefits from better data and health priorities will create a more reliable healthcare system. Submit 2 to 3 paragraphs with your ideas.
Part II – Autopsy Report • Immediate cause of death was hypoxia (suffocation or lack of oxygen). • Tissue sections from heart, lung, kidney, and liver all show massive cell death. • Staining with specific dyes showed major mitochondrial damage within the affected tissues. • Oxygen levels in the patients’ blood were approximately 110 mm Hg (normal range is 75 – 100 mm Hg). Questions 1. Recalling your knowledge of the function of organelles, what function of the cells was...
5. What teaching is necessary, with regard to hygiene, for patients receiving anticoagulant therapy? 6. What dietary teaching should be given to patients receiving Warfarin therapy? Antiplatelet Drugs: 1. Describe the basic mechanism of action for this class of drugs: 2. What are the contraindications for this class? 3. Is administration of a combination of antiplatelet drugs frequently done? 4. What specific adverse events can occur with the administration of aspirin in combination with certain other medications? Anti-lipemic Medications: 1....