Exam (elaborations)

Chapter 7 Porths Pathophysiology Exam Questions With Verified Answers

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Porth\'s Essentials of Pathophysiology

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Porth\'s Essentials Of Pathophysiology

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chapter 7 porths pathophysiology exam questions wi

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Chapter 7 Porths Pathophysiology Exam
Questions With Verified Answers
While examining a patient, the practitioner notices large, flat, cutaneous pigmentations. They are a
uniform light brown with sharply demarcated edges. He uses a Wood lamp to better detect the lighter
spots. The practitioner knows that the pigmentations may be a component of which disorder?
Von Recklinghausen disease

A second major component of type 1 neurofibromatosis, or von Recklinghausen disease, is the
presence of large, flat cutaneous pigmentations known as cafe' au lait spots. A Wood lamp, which
uses ultraviolet light, can be used to detect lighter spots.

Mendelian inheritance characteristics are most closely associated with which one of the following?
Marfan syndrome

What assessment finding supports the diagnosis of Turner syndrome?
Short stature

How is fetal alcohol syndrome (FAS) unlike other teratogens in regard to the harmful effects on the
fetus?
It extends throughout the pregnancy

Unlike other teratogenic exposures that cause abnormalities during a short period of time during fetal
development (usually in the early weeks), fetal alcohol damages the chromosomes of the developing
fetus as long as alcohol continues to circulate through the fetal bloodstream. FAS is diagnosed by the
presence of three findings that do not include liver abnormalities, and are not life-threatening. Facial
features characteristic of FAS are most noticeable during childhood.

Which assessment finding assists the nurse in confirming that a prepubertal male may have fragile X
syndrome?
Enlarged testes

A newborn has been diagnosed with phenylketonuria (PKU). The nurse teaches the mother about a
special diet to restrict phenylalanine intake. When does this diet need to be initiated?
7-10 days of age

Dietary treatment of PKU must be started early in neonatal life to prevent brain damage. Infants with
elevated phenylalanine levels should begin treatment by 7-10 days of age.

The nurse is explaining congenital defects to a newly pregnant patient. She explains that one of the
most common birth defects is which of the following?
Cleft lip with or without cleft palate

Which of the following procedures can be used to collect cells that can be used for fetal karyotyping?
Select all that apply.
• Amniocentesis
• Percutaneous umbilical cord blood sampling
• Chorionic villus sampling

, What should the nurse teach the patient about an autosomal dominant disorder?
It has varied gene penetration and expression.

Which of the following health problems may be identified by a TORCH screening test?
Rubella and herpes

The acronym TORCH stands for toxoplasmosis, other, rubella (i.e., German measles), cytomegalovirus,
and herpes, which are the agents most frequently implicated in fetal anomalies. The TORCH screening
test examines the infant's serum for the presence of antibodies to these agents.

What is the percentage risk that a mother with a mutant allele on the X chromosome will pass it on to
her daughter?
50%

The common pattern of inheritance is one in which an unaffected mother carries one normal and one
mutant allele on the X chromosome. This means that she has a 50% chance of transmitting the
defective gene to her sons, and her daughters have a 50% chance of being carrier of the mutant gene

When preparing educational materials on autosomal dominant disorders, the nurse will include
information on which of the following? Select all that apply.
• Huntington Chorea
• von Willebrand disease
• Marfan syndrome
• Osteogenesis imperfecta

Which of the following statements is true concerning percutaneous umbilical cord blood sampling
(PUBS)? Select all that apply.
• A PUBS is an invasive procedure.
• A PUBS requires ultrasonographic guidance.
• A PUBS results are available in 48-72 hours.
• A PUBS can assist in the diagnosis of fetal coagulation disorders.

Maternal serum alpha-fetoprotein (AFP) is a screening test for which of the following conditions?
Downs syndrome

The nurse is preparing a presentation on disorders of organ systems associated with mitochondrial
DNA (mtDNA) mutations. Which disorders will she include? Select all that apply.
• Leigh disease
• Kearns-Sayre syndrome
• Myoclonic epilepsy with ragged red fibers

A diagnosis of Klinefelter syndrome would be supported by proof of which chromosome pattern?
47, XXY

Marfan syndrome, which is a connective tissue disorder, affects several organ systems. The most life-
threatening aspects of the disorder are caused by defects in which of the following systems?
cardiovascular

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Exam (elaborations)

Chapter 7 Porths Pathophysiology Exam Questions With Verified Answers

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