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Patho Mid term Chamberlain nr507

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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 congeni...

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  • August 14, 2022
  • 31
  • 2022/2023
  • Exam (elaborations)
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Patho Mid term Chamberlain nr507


Housekeeping genes are vital to the function and maintenance of all the body's cells. What characteristic
is associated with these genes? - ANSWERD. They are transcriptionally active.



Mutations in the encoding of histones modifying proteins have been shown to influence the development
of what congenial condition - ANSWERHeart disease



Signals to change or modify epigenetic tags are ... from where? - ANSWERSignals 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 - ANSWERA. In utero



The difference between DNA sequence mutations and epigenetic modifications is? - ANSWEREpigenetic
modifications are REVERSIBLE



Explain the characteristics of totipotent stem cells and the sources of it - ANSWERTotipotent 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 - ANSWERA zygote

Cells in the early embyro up to 5 days



What is a Totipotent cell? - ANSWERTotipotent cells are cells that can differentiate into any type of body
cell and extra embryonic tissue

,What are the characteristics of Prader-Willi syndrome? - ANSWER1. 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? -
ANSWER1. 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? - ANSWERA 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? - ANSWERA 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? - ANSWERPrader-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? - ANSWERObservation 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? -
ANSWERDNA Damage is left unrepaired



When considering abnormal epigenetic modifications, what factor is currently being viewed as strongly
associated with the development of some cancers? - ANSWEREnvironmental Stressors



42. The most common cause of pathologic hyperbilirubinemia is: - ANSWERHemolytic disorders in the
newborn are the most common cause of pathologic jaundice.



Which infant is most likely to express Rh incompatibility? - ANSWERInfant of an Rh-negative mother
and a father who is Rh positive and homozygous for the Rh factor



Rh-positive offspring of an Rh-negative mother are at risk for Rh incompatibility



Rh hemolytic disease is suspected in a mother's second baby, a son. Which factor is important in
understanding how this could develop? - ANSWERThe first child was Rh positive



The nurse is caring for an infant with hemolytic disease. Which medication should the nurse anticipate to
be prescribed to decrease the bilirubin level? - ANSWERPhenobarbital



Which of the following combinations may result in the hemolytic disease of the newborn? -
ANSWERmother Rh negative, baby Rh positive



The nurse is caring for a newborn with hemolytic disease of the newborn who is receiving phototherapy.
Which of the following nursing interventions would be most appropriate for the nurse to do? -
ANSWERThe nurse turns the newborn every 3 or 4 hours

, A patient diagnosed with acute primary HIV infection is in the clinic. What treatment should be initiated
for this patient? - ANSWERCombination antiretroviral therapy



Didanosine therapy once daily

Zidovudine therapy once daily

Monotherapy protease inhibitor therapy



A patient has human immunodeficiency virus (HIV). A nurse realizes the HIV will attack: - ANSWERC)
helper T cells.



The nursing instructor is discussing the development of human immunodeficiency disease (HIV) with the
students. What should the instructor inform the class about helper T cells? - ANSWERFighting infection
*



A patient has DiGeorge syndrome. Which assessment findings should the nurse monitor for in this
patient? - ANSWERLow calcium levels and tetany



A nurse is caring for a client who is deficient in T cells. Which result of this T cell deficiency does the
nurse anticipate? - ANSWERB) Decrease in leukocytes

C) Impaired cellular immunity



T cells are subtypes of leukocytes, and they are a key factor in cellular immunity; therefore the client may
experience impaired cellular immunity and a decrease in leukocytes.



What is the purpose of pulmonary function testing - ANSWERTo identify and measure pulmonary
disease.



What is the role of pulmonary function testing? - ANSWERIt serves both a diagnostic and therapeutic
role.

It determines how well the lungs work.

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