NR 507
PATHOPHYSIOLOGY
MIDTERM EXAM.
- Housekeeping genes are vital to the function and maintenance of all the body’s cells.
What characteristic is associated with these genes?
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
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 embryo 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?
- Chronic feeling of hunger (severe, even life-threatening obesity)
- Low muscle tone
- Short
- Poor sex characteristic development
- Behavioral problems
- Poor cognitive development
- Angelman syndrome is sometimes called “happy puppet syndrome.” What are the
signs of this disorder? - Severe mental retardation
- No speech
- Abnormal gait
- Wide stance
- 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. - 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 - The most common cause of pathologic hyperbilirubinemia is: