Essentials of Pathophysiology Concepts of Altered States 4th Edition Porth By Porth RN MSN PhD -Test Bank Instant Download - Complete Test Bank With Answers Sample Questions Are Posted Below 1. Genetic disorders that involve a single-gene trait are characterized by: A) Multifactorial gene mutations B) Chromosome rearrangements …
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Essentials of Pathophysiology Concepts of Altered States 4th Edition Porth By Porth RN MSN PhD -Test Bank
Instant Download – Complete Test Bank With Answers
Sample Questions Are Posted Below
| 1. | Genetic disorders that involve a single-gene trait are characterized by: | |
| A) | Multifactorial gene mutations | |
| B) | Chromosome rearrangements | |
| C) | Mendelian patterns of transmission | |
| D) | Abnormal numbers of chromosomes | |
| Ans: | C | |
| Feedback: | ||
| Single-gene disorders are characterized by patterns of transmission that follow the Mendelian patterns of inheritance. Multifactorial inheritance involves more than one gene mutation, rearrangement of groups of genes, and uneven numbers of some chromosomes in each cell. | ||
| 2. | In one family, a son was born with polydactyly toes while his sister had polydactyly fingers. In explaining this phenomenon in genetic terms to the parents, which concept should be addressed? | |
| A) | Aneuploidy of genes in all cells | |
| B) | Deficiencies in enzyme synthesis | |
| C) | Heterozygote dominant trait | |
| D) | Variable expressivity of a gene | |
| Ans: | D | |
| Feedback: | ||
| Autosomal dominant disorders are characterized by variable gene penetrance (degree to which the trait is displayed) and expression (differences in how the trait is displayed). Aneuploidy is not a single-gene disorder and does not follow the Mendelian pattern of inheritance. Deficiencies of enzyme synthesis are common in autosomal recessive disorders. X-linked inheritance can be dominant or recessive, but it is not autosomal. | ||
| 3. | A woman who is a carrier for which of the following diseases possesses the greatest likelihood of passing the disease to her future children when heterozygous pairing exists? | |
| A) | Phenylketonuria (PKU) | |
| B) | Tay-Sachs disease | |
| C) | Neurofibromatosis | |
| D) | Cystic fibrosis | |
| Ans: | C | |
| Feedback: | ||
| Neurofibromatosis is an autosomal dominant genetic disorder with a consequent 50% chance of passing the disease to offspring. Tay-Sachs disease, PKU, and cystic fibrosis are autosomal recessive disorders and are manifested only when both members of the gene pair are affected. | ||
| 4. | A 16-year-old male presents to the clinic complaining of headaches, trouble hearing the teacher in the front of the classroom, and ringing in the ears. He also revealed that every time he goes swimming underwater, he gets disorientated (which never happened when he was younger). Given these manifestations, the health care provider is going to start testing for: | |
| A) | Deafness | |
| B) | Neurofibromas | |
| C) | Tay-Sachs disease | |
| D) | Fragile X syndrome | |
| Ans: | B | |
| Feedback: | ||
| NF-2, which is characterized by tumors of the acoustic nerve and multiple meningiomas, is much less common than NF-1. The disorder is often asymptomatic through the first 15 years of life. The most frequent symptoms are headaches, hearing loss, and tinnitus. Infants with Tay-Sachs disease appear normal at birth but begin to manifest progressive weakness, muscle flaccidity, and decreased attentiveness at approximately 6 to 10 months of age. Fragile X syndrome, an abnormality in the X chromosome, is the common cause of inherited intellectual disability. | ||
| 5. | Which of the following statements is true of autosomal recessive disorders? | |
| A) | Onset is typically late in childhood or early in adulthood. | |
| B) | Symptomatology is less uniform than with autosomal dominant disorders. | |
| C) | Mitochondrial DNA is normally the site of genetic alteration. | |
| D) | Effects are typically the result of alterations in enzyme function. | |
| Ans: | D | |
| Feedback: | ||
| 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. | ||
| 6. | Following routine newborn testing, an infant has been diagnosed with an elevated phenylalanine level. The nurse teaches the parents to follow a strict low-protein diet to prevent which of the following major complications for the infant? | |
| A) | Kidney failure | |
| B) | Impaired brain development | |
| C) | Thyroid metabolism errors | |
| D) | Cardiac valvular disorders | |
| Ans: | B | |
| Feedback: | ||
| Infants and children with classic and mild PKU require dietary protein restrictions to prevent mental retardation, microcephaly, and other signs of impaired neurologic development. Affected infants are normal at birth but within a few weeks begin to develop a rising phenylalanine level and signs of impaired brain development. Seizures, other neurologic abnormalities, decreased pigmentation of the hair and skin, and eczema often accompany the mental retardation in untreated infants. | ||
| 7. | When a male child inherits an X-linked disorder from his heterozygous carrier mother: | |
| A) | His sons will be carriers. | |
| B) | His father has the disorder. | |
| C) | Some of his sisters will be carriers. | |
| D) | His daughters will have the disorder. | |
| Ans: | C | |
| Feedback: | ||
| A male who has a recessive X-linked disorder will have daughters who are carriers and sons who are unaffected. Male children of a carrier mother have a 50% risk of having the disorder and cannot be carriers. Female children of a carrier mother have a 50% risk of being carriers and are not affected by the disorder. | ||
| 8. | When quizzing obstetrical nursing students regarding tissues affected by mitochondrial DNA mutations, the instructor accepts which of the following responses? Select all that apply. | |
| A) | Retinal degeneration | |
| B) | Deafness | |
| C) | Cardiac valve abnormalities | |
| D) | Absent testes | |
| E) | Palatal abnormalities | |
| Ans: | A, B | |
| Feedback: | ||
| Mitochondrial DNA mutations generally affect tissues and organs that are highly dependent on oxidative phosphorylation to meet their high needs for metabolic energy. Thus, mitochondrial diseases frequently affect the brain and neuromuscular system and produce encephalomyopathies, retinal degeneration, loss of extraocular muscle function, lactic acidosis, and deafness. | ||
| 9. | Which of the following statements about multifactorial inheritance disorders are accurate to share with a family of a child born with a cleft lip and palate? Multifactorial inheritance disorders: Select all that apply. | |
| A) | Can be predicted with the same degree of accuracy as Mendelian single-gene mutations | |
| B) | Usually involve more than a single organ or tissue | |
| C) | Carry the same risk for recurrence with future pregnancies | |
| D) | Have an increased risk among first-degree relatives of the affected person | |
| E) | Carry no additional risk with increasing incidence of the defect among relatives | |
| Ans: | C, D | |
| Feedback: | ||
| Although multifactorial traits cannot be predicted with the same degree of accuracy as Mendelian single-gene mutations, characteristic patterns exist. First, multifactorial congenital malformations tend to involve a single organ or tissue. Second, the risk of recurrence in future pregnancies is for the same or a similar defect. This means that parents of a child with a cleft palate defect have an increased risk of having another child with a cleft palate. Third, the increased risk (compared with the general population) among first-degree relatives of the affected person is 2% to 7%. The risk increases with increasing incidence of the defect among relatives. This means that the risk is greatly increased when a second child with the defect is born to a couple. | ||
| 10. | The parents of a newborn infant are relieved that their baby was born healthy, with the exception of a cleft lip that will be surgically corrected in 10 or 12 weeks. Which of the nurse’s following statements to the parent’s best conveys the probable cause of the infant’s cleft lip? | |
| A) | “Though you are both healthy, you likely both carry the gene for a cleft lip.” | |
| B) | “Provided one of you had the gene for a cleft lip, your baby likely faced a 50/50 chance of having one.” | |
| C) | “Your child’s cleft lip likely results from the interplay between environment and genes.” | |
| D) | “A cleft lip can sometimes result from taking prescription drugs, even when they’re taken as ordered.” | |
| Ans: | C | |
| Feedback: | ||
| A cleft lip is considered to be a multifactorial disorder, in which both environment and genes contribute to the condition. It does not depend solely on Mendelian patterns of inheritance and is not known to result from teratogenic drugs. | ||
| 11. | Which of the following practitioners is most likely to be of immediate assistance in the first 24 hours following delivery of an infant with a cleft lip? | |
| A) | Lactation consultant | |
| B) | Respiratory therapist | |
| C) | Occupational therapist | |
| D) | Social worker | |
| Ans: | A | |
| Feedback: | ||
| Infants with a cleft lip typically have difficulty with feeding, and the assistance of a lactation consultant may be of help in establishing feeding patterns. Oxygenation is not a typical problem, while activities of daily living and assistive devices are not relevant considerations. While social work is often of assistance when a child is born with a congenital condition, a cleft lip has fewer implications than most other inherited disorders. | ||
| 12. | The newborn has been born with distinctive physical features of trisomy 21, Down syndrome. The mother asks the nurse, “What is wrong? My baby looks different than his brother.” The nurse assesses the infant and notes which of the following characteristics that correlate with trisomy 21? Select all that apply. | |
| A) | Upward slanting of eyes | |
| B) | Large, protruding ears | |
| C) | Large tongue sticking out the mouth | |
| D) | Long fingers with extra creases | |
| E) | Flat facial profile | |
| Ans: | A, C, E | |
| Feedback: | ||
| The physical features of a child with Down syndrome are distinctive, and therefore the condition usually is apparent at birth. These features include growth failure and a small and rather square head. There is a flat facial profile, small nose, and somewhat depressed nasal bridge; upward slanting of the eyes; small, low-set, and malformed ears; and a large, protruding tongue. The child’s hands usually are short and stubby, with fingers that curl inward, and there usually is only a single palmar crease (simian crease). | ||
| 13. | A 41-year-old woman has made the recent decision to start a family and is eager to undergo testing to mitigate the possibility of having a child with Down syndrome. Which of the following tests is most likely to provide the data the woman seeks? | |
| A) | Genetic testing of the woman | |
| B) | Genetic testing of the woman and the father | |
| C) | Prenatal blood tests | |
| D) | Ultrasonography | |
| Ans: | C | |
| Feedback: | ||
| Down syndrome is a result of chromosomal abnormality and is not a single-gene disorder. As a result, genetic testing of the mother and/or father is not relevant. Ultrasonography does not have predicative value for Down syndrome, but blood tests such as a-fetoprotein, human chorionic gonadotropin (HCG), unconjugated estriol, inhibin A, and pregnancy-associated plasma protein A have helped ascertain the risks. | ||
| 14. | Aneuploidy of the X chromosome can result in a monosomy or polysomy disorder. The clinical manifestations of a female with monosomy X include: Select all that apply. | |
| A) | A short-stature female individual | |
| B) | Difficulty with fine motor skills | |
| C) | Large heavy breasts | |
| D) | Early-onset (age 8) puberty | |
| E) | Nonpitting lymphedema of the feet | |
| Ans: | A, B, E | |
| Feedback: | ||
| Turner syndrome produces a female individual who is short, has no secondary sex characteristics, has normal intelligence, and fails to go through puberty due to an absence of ovaries. Polysomy X is a XXY male. XXY males have tall slim stature with breast enlargement, lack of sperm, and normal intelligence. They may have problems with visuospatial organization (driving a car, working math problems, psychomotor skills, etc.). There are variations in the syndrome, with abnormalities ranging from essentially none to webbing of the neck with redundant skin folds and nonpitting lymphedema of the hands and feet. | ||
| 15. | Genetic testing has revealed that a male infant has been born with an extra X chromosome. What are the most likely implications of this finding? The child: | |
| A) | Is unlikely to survive infancy | |
| B) | Is likely to have no manifestations of this chromosomal abnormality | |
| C) | Will have significant neurological and cognitive defects | |
| D) | Will be unable to reproduce | |
| Ans: | B | |
| Feedback: | ||
| An extra X chromosome is associated with Klinefelter syndrome, but a majority of XXY males do not exhibit visible effects of this chromosomal abnormality. | ||
| 16. | A teratogenic environmental agent can cause birth defects when: | |
| A) | Inherited as a recessive trait | |
| B) | Intense exposure occurs at birth | |
| C) | Disjunction occurs during meiosis | |
| D) | Exposed during early pregnancy | |
| Ans: | D | |
| Feedback: | ||
| Teratogenic environmental agents cause birth defects when the fetus is exposed directly during fetal development. Recessive single-gene disorders are inherited from carriers or affected parents and are not affected by toxic agent exposures. Exposure to teratogenic agents at birth will not cause genetic defects in that infant. Disjunction during first or second meiosis is characteristic of aneuploidy disorders such as trisomy 21, Down syndrome, and is unrelated to maternal environment or in utero exposures. | ||
| 17. | Which of the following variables determine the extent of teratogenic drug effects? Select all that apply. | |
| A) | Maternal health history | |
| B) | Molecular weight of the drug | |
| C) | Stage of pregnancy when the drug was taken | |
| D) | Duration of drug exposure | |
| E) | Fetal blood type | |
| Ans: | B, C, D | |
| Feedback: | ||
| The nature and extent of teratogenic effects are the result of numerous factors, including the timing and molecular weight of the drug and the gestational age of the embryo or fetus. Fetal blood type and the health history of the mother are not key variables. | ||
| 18. | Fetal alcohol syndrome (FAS) is unlike other teratogens in that the harmful effects on the fetus: | |
| A) | Directly result in liver damage | |
| B) | Extend throughout the pregnancy | |
| C) | Are most noticeable in adulthood | |
| D) | Cause death in early childhood | |
| Ans: | B | |
| Feedback: | ||
| Unlike other teratogenic exposures that cause abnormalities during a short period of time during fetal development (usually in the early weeks), fetal alcohol (FAS) 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. | ||
| 19. | A woman who has just learned that she is pregnant for the first time has sought advice from her health care provider about the safe use of alcohol during pregnancy. What advice should the clinician provide to the woman? | |
| A) | “It’s likely best to eliminate alcohol from your diet while you’re pregnant.” | |
| B) | “Moderation in alcohol use is critical while you are pregnant.” | |
| C) | “You should limit yourself to a maximum of one drink daily while you’re pregnant.” | |
| D) | “You should drink no alcohol until you are in your second trimester.” | |
| Ans: | A | |
| Feedback: | ||
| Safe intake levels of alcohol during pregnancy are unknown. Even small amounts of alcohol consumed during critical periods of fetal development may be teratogenic. As a result, it is best for pregnant women to forego alcohol use throughout pregnancy. | ||
| 20. | A newly pregnant female is worried about her baby. She recently returned from a mission trip to Africa. She was told there was a rubella outbreak in the next village. She has been given a TORCH screening test. If she has exposed her fetus to rubella, the nurse would expect the infant to display which of the following possible birth defects? | |
| A) | Blindness | |
| B) | Missing limbs | |
| C) | Hydrocephalus | |
| D) | Encephalitis | |
| Ans: | A | |
| Feedback: | ||
| 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. Although rubella has virtually been eliminated, it remains endemic in many developing countries, where it is the major preventable cause of hearing impairment, blindness, and adverse neurodevelopmental outcome. | ||
| 21. | Which of the following meals would be considered high in folic acid intake? | |
| A) | Deep-fried mushrooms with creamy horseradish sauce, hot dogs without bun, and potato salad | |
| B) | Fried chicken, mashed potatoes with gravy, and corn on the cob | |
| C) | Green leafy salad, beef and bean burrito on whole-wheat shell | |
| D) | Steak, baked potato with sour cream, and cheesecake | |
| Ans: | C | |
| Feedback: | ||
| To achieve an adequate intake of folic acid, pregnant women should couple a diet that contains folate-rich foods (e.g., orange juice; dark, leafy green vegetables; and legumes) with sources of synthetic folic acid, such as fortified food products. | ||
| 22. | A first-time pregnant mother asks, “Why do I need an ultrasound? I’m worried that my insurance won’t cover it.” The nurse responds that an ultrasonography can diagnose prenatal abnormalities like which of the following? Select all that apply. | |
| A) | Cytogenic abnormalities | |
| B) | Skeletal defects like facial structural problems | |
| C) | Chromosomal deficits | |
| D) | Abnormal levels of a-fetoprotein | |
| E) | Congenital heart defects | |
| Ans: | B, E | |
| Feedback: | ||
| Ultrasonography is the primary method for assessing fetal size and screen for structural abnormalities that include the heart, skeleton, face, diaphragm, and gastrointestinal tract. Cytogenic studies and chromosomal analysis require amniocentesis, chorionic villus sampling, or umbilical cord blood. a-Fetoprotein (AFP) requires a maternal blood sample that is analyzed for serum markers associated with neural tube defects. | ||
| 23. | A pregnant client’s a-fetoprotein (AFP) returns elevated. The couple ask the health care worker to explain what this means. Which of the following is the best response? | |
| A) | “This means you need to decrease your protein intake to prevent renal problems in your baby.” | |
| B) | “Elevated levels means your baby is at risk of having a neural tube defect like spina bifida (an opening in the spine).” | |
| C) | “This means your baby has Down syndrome. We won’t know how severe until after you give birth.” | |
| D) | “This is normal. The problem is if it is low, that means your baby will be born with trisomy 18 and will be retarded.” | |
| Ans: | B | |
| Feedback: | ||
| Maternal and amniotic fluid levels of AFP are elevated in pregnancies where the fetus has a neural tube defect (i.e., anencephaly and open spina bifida) or certain other malformations such as an anterior abdominal wall defect in which the fetal integument is not intact. Screening of maternal blood samples usually is done between weeks 16 and 18 of gestation. Although neural tube defects have been associated with elevated levels of AFP, decreased levels have been associated with Down syndrome. | ||
| 24. | An older mother (age 41) is worried about having a baby with birth defects. She wants to get tested so she can be prepared for the outcome. Which of the following tests should the clinic nurse prepare the client for? Select all that apply. | |
| A) | A blood test (circulating cell-free DNA) will tell if the baby is mentally retarded. | |
| B) | Abdominal x-ray can detect skeletal abnormalities. | |
| C) | Withdrawing a sample of amniotic fluid will reveal any chromosomal defects. | |
| D) | Ultrasonography will reveal any single-gene disorders like fragile X syndrome. | |
| E) | PET scanning to see if there are any areas of accelerated growth of tissue. | |
| Ans: | A, C | |
| Feedback: | ||
| During pregnancy, there are cf-DNA fragments from both the mother and fetus in maternal circulation. It is possible to analyze cf-DNA from maternal blood to detect common fetal trisomies such as Down syndrome as early as 10 weeks. Amniocentesis involves the withdrawal of a sample of amniotic fluid from the pregnant uterus. The procedure is useful in women older than 35 years of age, who have an increased risk of giving birth to an infant with Down syndrome, and in parents who have another child with chromosomal abnormalities. Ultrasonography allows the visualization of body structures, revealing such defects as skeletal malformations. It is only able to identify chromosomal disorders, genetic disorders, and neural tube defects by way of their anatomic effects. PET scanning is used to assess for cancer metastasis or inflammatory diseases. It is not used in pregnancy testing. | ||
| 25. | A pregnant mother (16 weeks’ gestation) forgot and emptied her cat’s litter box without gloves. She is extremely anxious and wants tested right away. Which test would the nurse prepare her for that would give rapid cytogenic analysis? | |
| A) | Ultrasonography | |
| B) | Fetal biopsy | |
| C) | Chorionic villus sampling | |
| D) | Percutaneous umbilical cord blood sampling | |
| Ans: | D | |
| Feedback: | ||
| Percutaneous umbilical cord blood sampling involves the transcutaneous insertion of a needle through the uterine wall and into the umbilical artery. It is used for prenatal diagnosis of hemoglobinopathies, coagulation disorders, metabolic and cytogenetic disorders, and immunodeficiencies. Fetal infections such as rubella and toxoplasmosis can be detected through measurement of immunoglobulin M antibodies or direct blood cultures. Results from cytogenetic studies usually are available within 48 to 72 hours. Fetal biopsy is used to detect certain genetic skin defects that cannot be diagnosed with DNA analysis. The tissue that is obtained following sampling of the chorionic villi can be used for fetal chromosome studies, DNA analysis, and biochemical studies. Ultrasonography makes possible the in utero diagnosis of hydrocephalus, spina bifida, facial defects, congenital heart defects, congenital diaphragmatic hernias, disorders of the gastrointestinal tract, and skeletal anomalies. Cardiovascular abnormalities are the most commonly missed malformation. | ||
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Original price was: $30.00.$20.00Current price is: $20.00.
Original price was: $30.00.$20.00Current price is: $20.00.
Original price was: $30.00.$20.00Current price is: $20.00.
Original price was: $30.00.$20.00Current price is: $20.00.
Original price was: $30.00.$20.00Current price is: $20.00.
