Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Genetic Health Across the Lifespan > Topic 8 Group presentations > Flashcards

Topic 8 Group presentations Flashcards

1
Q

Sickle cell disease - primary health problem

A

Severe hemolytic anemia due to defective

hemoglobin - sickled cells are malformed, so they are often prematurely destroyed in the spleen.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Sickle cell disease - pattern of inheritance

A

SCD is a group of inherited red blood cell disorders and is autosomal recessive.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Sickle cell disease - screening

A

Sickledex detects Hemoglobin S and thus screens for the presence of either sickle cell trait or disease (does not distinguish between the two).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Sickle cell disease - diagnosis

A

Hemoglobin electrophoresis test is required for actual diagnosis of sickle cell disease.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

An individual inheriting two copies of Hb S (Hb SS) is considered to have _

A

Sickle cell anemia.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

An individual inheriting one copy of Hb S plus another deleterious β-globin variant (e.g., Hb C or Hb β-thalassemia) is considered to have _

A

Sickle cell disease.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

An individual who has one copy of the normal β-globin gene and one copy of the sickle variant (Hb AS) is considered to have _

A

Sickle cell trait (carrier status).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

_ helps prevent formation of sickle-shaped red blood cells.

A

Hydroxyurea.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Avoidance of triggers for sickle cell crisis

A

High altitude, maintain adequate fluid intake, treat infections promptly, obtain immunizations, treat chronic leg ulcers.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

During genetic counseling, you know your sickle trait carrier parents need more education if they say _ (“My child won’t have sickle cell disease because neither of us have it”; “All of our children will be affected because we are both carriers”; “50% of our children will have sickle cell disease”; All of the above.)

A

All of the above.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is considered to be the only cure for SCD?

A

Hematopoietic stem cell transplantation.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

What are some of the economic barriers SCD patients face?

A

Stable employment and high health care costs.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Essential tremor - manifestations

A
  1. Characterized by shakiness in the hands, head, voice, arms, trunk, and legs.
  2. Seen during purposeful movements, whereas Parkinson’s is associated with a shake at rest.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Essential tremor - gene implicated

A

LINGO - involved in regulation of CNS anatomy.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Essential tremor - prevention

A

Avoid caffeine and stimulants, use alcohol in moderation, utilize assistive devices as needed.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

(True or false) Essential tremor is currently thought to be highly heritable due to high monozygotic twin concordance, but the specific mechanism of inheritance has not been definitively identified.

A

True.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

Essential tremor is distinguishable from Parkinson’s disease in that _

A

Shakiness caused by essential tremor is seen during purposeful movements, but shakiness caused by Parkinson’s is seen at rest.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

Treatment options for essential tremor include all of the following except _ (Benzodiazepines; alcohol; deep brain stimulation; caffeine.)

A

Caffeine.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

Usher syndrome

A
  1. An autosomal recessive genetic condition that involves sensorineural hearing loss and retinitis pigmentosa (vision loss).
  2. No known cure; treatment focuses on use of hearing aids, sign language, etc. May involve two distinct periods of grieving due to hearing loss followed by later vision loss.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

Sensorineural hearing loss

A

Type of hearing loss which involves a problem in the inner ear, the vestibulocochlear nerve, or the central auditory processing centers of the brain.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

Retinitis pigmentosa

A

A degenerative disease of the retina that leads to progressive vision loss and eventual blindness.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

Usher syndrome is usually diagnosed at _ years of age.

A

5-10 years.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

Usher syndrome Type I

A

Profoundly deaf at birth; severe balance issues; little to no benefit from hearing aids; develop vision problems in early childhood (usually by 10 years of age).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Usher syndrome Type II

A

Moderate to severe hearing loss at birth; normal balance; hearing aids are useful; retinitis pigmentosa onset normally not until adolescence.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

Usher syndrome Type III

A

Normal hearing at birth; normal balance; develop hearing loss by adolescence and will need hearing aids by mid- to late-adulthood; slow, but progressive blindness (usually legally blind by mid-adulthood).

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

Which of the following is true regarding the types of Usher syndrome?

A

Type I is characterized by a profound amount of hearing loss at birth.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is unique about the grieving process for a patient with Usher syndrome and their family?

A

They may experience two distinct grieving periods for the loss of sight and vision.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

Why is early diagnosis key for the treatment of Usher syndrome?

A

To allow children to begin early specialization training for hearing and vision loss.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

Which statement regarding Fraser syndrome is true?

A

Consanguinity is associated with an increased incidence of this disorder.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

You are a nurse in the New Orleans area talking with a couple whose pregnancy has received a prenatal diagnosis of Fraser syndrome based on ultrasound findings. Your interactions with this couple will be based upon which knowledge?

A

The life expectancy for an affected child is usually less than 1 year; this couple may benefit from information and assistance supplied by NORD.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

What is the most common physical malformation observed in Fraser syndrome?

A

Cryptophthalmos.

32
Q

Cerebral palsy - manifestations

A

Decreased locomotion; musculoskeletal pain; increased fractures; issues with balance; fatigue; problems with communication and minor learning disabilities.

33
Q

Two things that can increase the risk for cerebral palsy

A

Consanguinity and advanced paternal age.

34
Q

Cerebral palsy - diagnosis

A

Typically diagnosed early in childhood, via: (1) Developmental monitoring; (2) developmental screening; and (3) developmental and medical evaluations.

35
Q

What is the most common cause of cerebral palsy?

A

Brain injury in utero.

36
Q

At what age range is cerebral palsy typically diagnosed?

A

1-5 years old.

37
Q

Which of the following actions are most commonly performed in physical therapy for cerebral palsy patients?

A

Active and passive range of motion exercises.

38
Q

Albinism

A
  1. Lack of melanin production causes little or no pigment in the skin, eyes, and hair. Occurs across all races.
  2. Protective clothing and creams should be used whenever outside because these individuals are at high risk for skin cancer.
  3. Abnormal development of the retina and nerve connections between the eye and brain causes vision problems - legally blind and photophobic. “Red” looking eyes are due to the lack of pigment in the iris, causing the blood vessels to be more visible.
39
Q

Oculocutaneous albinism (OCA)

A

Autosomal recessive; most common type that affects the skin, hair and eyes.

40
Q

Ocular albinism (OA)

A

X-linked recessive; more rare type that primarily affects the eyes.

41
Q

Hermansky-Pudlak Syndrome (HPS)

A
  1. A type of albinism caused by a mutation in the HPS1 gene.
  2. Those with HPS have the same symptoms as other forms of albinism, with the addition of breathing problems and inability to clot blood.
42
Q

Gene therapy and tissue engineering through transplantation of _ is currently being researched as a possible treatment for albinism.

A

Cultured melanocytes.

43
Q

What type of albinism is the most severe and often causes breathing and blood clotting problems?

A

Hermansky-Pudlak Syndrome (HPS).

44
Q

What are some ways to help children with albinism?

A

Sunglasses; sunblock; protective clothing.

45
Q

Which of the following statements is true of albinism?

A

Persons with albinism are lacking the substance melanin.

46
Q

Trisomy 18 is also known as _

A

Edwards syndrome.

47
Q

Trisomy 18

A
  1. Can be diagnosed during pregnancy by low levels of AFP, uE3, and hCG; identification of septal defects.
  2. Frequently the child is small for gestational age, and 50% have hearing problems.
48
Q

Final confirmation of trisomy 18 occurs through chorionic villus sampling or amniocentesis, followed by _

A

Karyotyping.

49
Q

The majority of patients affected by trisomy 18 do not inherit the disorder; it is a result of _

A

Nondisjunction.

50
Q

Genetic carrier testing is available to those with _ to identify balanced translocations and carrier status.

A

Partial trisomy 18.

51
Q

Treatment for trisomy 18 is palliative, with an objective to achieve some _

A

Developmental milestones.

52
Q

Which manifestations may be found along with the chromosomal abnormalities associated with trisomy 18? (Small for gestational age; choroid plexus cysts; rocker bottom feet; all of the above.)

A

All of the above.

53
Q

When the healthcare provider is explaining what follows a diagnosis of trisomy 18, he would include all of the following, except _ (Referral to genetic counselor; life expectancy averages 13 years of age; palliative care; surgical options, if any.)

A

Life expectancy averages 13 years of age.

54
Q

Which of these support resources could a parent of a patient with trisomy 18 visit for links to available clinical trials?

A

Genetics Home Reference.

55
Q

Which of the following couples is most likely to have a child with beta thalassemia?

A

A man and a woman who just moved here from Greece.

56
Q

If both parents are carriers for beta thalassemia, what chance do they have of having a child that is completely unaffected?

A

25%.

57
Q

Which of these statements indicates the parent of a newborn requires no further teaching?

A

“The hospital will automatically test my baby for thalassemia at 24 hours old so I don’t have to take my baby to get tested.”

58
Q

A 7 year old patient presents with scoliosis, problems walking, impaired breathing, and cognitive impairment. The blood test shows elevated creatine kinase levels. What genetic disorder does this patient suffer from?

A

Duchenne muscular dystrophy (DMD).

59
Q

Duchenne muscular dystrophy is caused by _ (Absence or lack of dystrophin; mutation in the DMD gene; mutation on the X chromosome; all of the above.)

A

All of the above.

60
Q

What is the most important goal of nursing care for Duchenne muscular dystrophy (DMD)?

A

Preserve mobility and independence through exercise, physical therapy, and orthopedic appliances.

61
Q

Regarding Friedreich’s ataxia, parents need more education when they state that _

A

“My first child did not have FA therefore my second child won’t.”

62
Q

True or false - All patients affected with Friedreich’s ataxia will eventually develop diabetes.

A

False.

63
Q

Patients with Friedreich’s ataxia commonly experience which symptoms?

A

Scoliosis and dysarthria.

64
Q

Charcot-Marie-Tooth can be inherited through which of the following mechanisms? (Autosomal dominant; autosomal recessive; X-linked dominant; all of the above.)

A

All of the above.

65
Q

Which statement is true about Charcot-Marie-Tooth?

A

Phenotypic manifestations are due to demyelination of peripheral nerves.

66
Q

Which of the following is not a phenotypic manifestation of Charcot-Marie-Tooth?

A

Cognitive impairment.

67
Q

What is/are the main symptom(s) associated with Sjogren’s syndrome?

A

Dry eyes and dry mouth.

68
Q

How many of the six criteria must be met to confirm a positive diagnosis of Sjogren’s syndrome?

A

Four.

69
Q

Of the following, which statement is true concerning Sjogren’s syndrome?

A

Average onset is in the late 40s and 90% of women diagnosed with the disorder are postmenopausal.

70
Q

Symptoms of multiple sclerosis are caused by _

A

Progressive damage to the myelin sheath of nerve cells.

71
Q

Which of the following is usually not a symptom of multiple sclerosis?

A

Polyuria.

72
Q

Treatment of multiple sclerosis and its associated symptoms can include _ (Corticosteroids; rehabilitation programs; antidepressants; all of the above.)

A

All of the above.

73
Q

How is fatal familial insomnia diagnosed? (Various, adult-onset neurologic signs and symptoms; examining cells and tissues of the brain under a microscope; a family history consistent with autosomal dominant inheritance; PRNP disease-causing mutation; all of the above.)

A

All of the above.

74
Q

What is the method of management for fatal familial insomnia (FFI)?

A

Promote comfort; promote safety; alleviate symptoms that accompany FFI.

75
Q

Which stage of fatal familial insomnia includes dementia and unresponsiveness?

A

Stage 4.

Genetic Health Across the Lifespan (15 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions