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Complete Test Bank Porth's Pathophysiology: Concepts of Altered Health States 10th Edition Test Bank Chapter 1-52 | Complete Guide 2024
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Test bank For Porths Pathophysiology 10th Edition Norris |9781496377555 | All Chapters with Answers and Rationals
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? -
ANSWER: 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? -
ANSWER: Marfan syndrome
What assessment finding supports the diagnosis of Turner syndrome? - ANSWER: Short stature
How is fetal alcohol syndrome (FAS) unlike other teratogens in regard to the harmful effects on the
fetus? - ANSWER: 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? - ANSWER: 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? - ANSWER: 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? - ANSWER: 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. - ANSWER: • Amniocentesis
• Percutaneous umbilical cord blood sampling
• Chorionic villus sampling
What should the nurse teach the patient about an autosomal dominant disorder? - ANSWER: It has
varied gene penetration and expression.
Which of the following health problems may be identified by a TORCH screening test? - ANSWER:
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? - ANSWER: 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. - ANSWER: • 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. - ANSWER: • 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? -
ANSWER: 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. - ANSWER: • 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? -
ANSWER: 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? -
ANSWER: cardiovascular
Polydactyly may be expressed in either the fingers or toes. This is an example of which of the
following? - ANSWER: variable expressivity
Which statement is true of autosomal recessive disorders? - ANSWER: Effects are typically the result
of alterations in enzyme function.
With autosomal recessive disorders, the age of onset is frequently early in life; the symptomatology
tends to be more uniform than with autosomal dominant disorders; and the disorders are
characteristically caused by loss-of-function mutations, many of which impair or eliminate the
function of an enzyme. Mutations typically occur in nuclear, rather than mitochondrial, DNA
The provider receives fetal karotype results on one of his patients. The karotype describes an absence
of all or part of the X chromosome. Which condition does the fetus exhibit? - ANSWER: Turner
syndrome
The nurse teaches the pregnant radiation technologist that excessive levels of radiation have been
shown to cause which of the following? Select all that apply. - ANSWER: • Microcephaly
• Skeletal malformations
• Mental retardation
The nurse teaches a pregnant woman about screening tests for her newborn. The nurse teaches that
which test will assess for the risk of mental retardation and impaired neurological development? -
ANSWER: Serum phenylalanine test
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