NR 507 Pathophysiology Mid term Exam Questions and Answers 2026/2027 (27pages)

Housekeeping genes are vital to the function and maintenance of all the body's cells. What characteristic is associated with these genes? D. They are transcriptionally active. Mutations in the encoding of histones modifying proteins have been shown to influence the development of what congenial condition Heart disease Signals to change or modify epigenetic tags are ... from where? Signals come from inside the cell, from neighboring cells or the environment During which stage of human development does the role of epigenetics have the greatest impact on the development of epigenetic abnormalities A. In utero The difference between DNA sequence mutations and epigenetic modifications is? Epigenetic modifications are REVERSIBLE Explain the characteristics of totipotent stem cells and the sources of it Totipotent cells are cells that can mature into any type of body cell in an organism including the cells that make up the placenta in mammals. Totipotent cells are only present in mammals in the first few cell divisions of an embryo. Give 2 examples of totipotent cells A zygote Cells in the early embyro up to 5 days What is a Totipotent cell? Totipotent cells are cells that can differentiate into any type of body cell and extra embryonic tissue What are the characteristics of Prader-Willi syndrome? 1. Chronic feeling of hunger (severe, even life-threatening obesity) 2. Low muscle tone 3. Short 4. Poor sex characteristic development 5. Behavioral problems 6. Poor cognitive development Angelman syndrome is sometimes called "happy puppet syndrome." What are the signs of this disorder? 1. Severe mental retardation 2. No speech 3. Abnormal gait 4. Wide stance 5. Arms held out kinda weird What is the most common genetic cause of Prader-Willi syndrome? A deletion of a segment of PATERNAL chromosome 15q. The maternal counterpart is methylated via genomic imprinting. What is the most common genetic cause of Angelman syndrome? A deletion of a segment of MATERNAL chromosome 15q. The paternal counterpart is methylated via genomic imprinting. A child with Prader-Willi syndrome has been hospitalized. Which assessment findings does the nurse expect with this syndrome? Prader-Willi syndrome is characterized by insatiable hunger that can lead to morbid obesity in childhood. Abnormal, puppetlike gait, paroxysms of inappropriate laughter, and nonverbal are characteristics seen in Angelman syndrome. The nurse is examining an 8-year-old boy with chromosomal abnormalities. Which sign or symptom suggests the boy has Angelman syndrome? Observation shows jerky ataxic movement Angelman syndrome is characterized by jerky ataxic movements, similar to a puppet's gait. Hypotonicity is a symptom of Angelman syndrome as well as Prader Willi syndrome, and Cri-du-chat. Cleft palate is a symptom of velo-cardio-facial/DiGeorge syndrome What is the role of inactive MLH1 in the development of some forms of inherited colon cancer? DNA Damage is left unrepaired When considering abnormal epigenetic modifications, what factor is currently being viewed as strongly associated with the development of some cancers? Environmental Stressors 42. The most common cause of pathologic hyperbilirubinemia is