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Critical Care 2 > exam 3, deck 4 > Flashcards

exam 3, deck 4 Flashcards

1
Q

where to find prescriptive scope of practice in Texas

A

Texas Administrative Code Rule 222.7

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2
Q

scope of practice is regulated at what level

A

state level by board of nursing

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3
Q

Texas Administrative Code Rule 222.7

A

Authority for APRN who has been issued full licensure and a valid prescription authorization number by the Board may order or prescribe non-prescription dugs, dangerous drugs and devices, including durable medical equipment, in accordance with the standards and requirements set forth in this chapter. however, if the APRN wishes to also order or prescribe controlled substances, the APRN must also meet the additional requirements of 222.8 (relating to Authority to order and prescribe controlled substances

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4
Q

Prescriptive authority to order or prescribe controlled substances is outlined where

A

Texas Administrative Code Rule 222.8

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5
Q

what falls under the category of dangerous drugs

A

Antibiotics
antihypertensives
Antidepressants
Anticoagulants

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6
Q

what schedule drugs are not prescribeable and what are some examples

A

Schedule I
Heroin
Hallucinogens
Marijuana

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7
Q

Opioids are schedule

A

II

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8
Q

Barbiturates are schedule

A

II

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9
Q

Cocaine is schedule

A

II

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10
Q

Amphetamine is schedule

A

II

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11
Q

Methylphenidate is schedule

A

II

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12
Q

Methamphetamine is schedule

A

II

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13
Q

PCP is a schedule

A

II

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14
Q

Opioids (Codeine combinations, Buprenorphine) is a schedule

A

III

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15
Q

Barbiturates combos is a schedule

A

III

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16
Q

Ketamine is a schedule

A

III

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17
Q

GHB is a schedule

A

III

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18
Q

Marinol is a schedule

A

III

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19
Q

Anabolic steroids are a schedule

A

III

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20
Q

Benzodiazepines and other depressants (Zaleplon, Zolpidem, Eszopliconde) is a schedule

A

IV

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21
Q

Modafinil is schedule

A

IV

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22
Q

Fenfluramine is a schedule

A

IV

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23
Q

Butorphanol is a schedule

A

IV

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24
Q

Tramadol is a schedule

A

IV

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25
Q

Opioids in limited quantities and in combinations (Codeine, Dihydrocodeine, Difenoxin) are schedule

A

V

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26
Q

Pregabalin is a schedule

A

V

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27
Q

Lacosamide is a schedule

A

V

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28
Q

what schedule under controlled substances carries the highest risk for severe psych or physical dependence

A

II
schedule I have no medical use

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29
Q

What are nurse practitioners able to prescribe in controlled substances with a DEA number?

A

Schedule III -V have been allowed

legislature is starting to allow schedule II but tightly controlled

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30
Q

methadone is a schedule

A

II

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31
Q

oxycodone is a schedule

A

II

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32
Q

morphine is a schedule

A

II

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33
Q

Hydrocodone is a schedule

A

II

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34
Q

Fentanyl is a schedule

A

II

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35
Q

Adderall is a schedule

A

II

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36
Q

Ritalin is a schedule

A

II

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37
Q

tylenol + codeine is a schedule

A

III

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38
Q

ketamine is a schedule

A

III

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39
Q

Suboxone is a schedule

A

III

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40
Q

testosterone is a schedule

A

III

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41
Q

Xanax is a schedule

A

IV

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42
Q

Klonopin is a schedule

A

IV

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43
Q

Valium is a schedule

A

IV

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44
Q

Ativan is a schedule

A

IV

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45
Q

Versed is a schedule

A

IV

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46
Q

Cough syrup with codeine is a schedule

A

V - we dont prescribe in children

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47
Q

requirements to prescribe schedule III-V medications

A

Must have a DEA number
max amount is 90 day supply
> 2yrs old
<2 yrs old - must have physician consult

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48
Q

requirements to prescribe a schedule II med

A

Must have a DEA number and
-admitted and intended to stay >24 hours
-receiving care in ER
-Hospice care

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49
Q

Can you prescribe a schedule II medication in an outpatient setting or as a discharge prescription

A

no, with the exception of if they are being discharged home, you can have them pick it up in the hospital pharmacy but you cannot send to outside pharmacy

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50
Q

what is the Texas Prescription Monitoring Program

A

online database that tracts controlled medications to help prevent abuse

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51
Q

results in withdrawal symptoms when the drug is no longer received

A

Dependence (tolerance)

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52
Q

Physical dependency + mental/psychological reliance = resulting in craving, drug seeking behavior

A

addiction

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53
Q

diminishing response to repeated stimulus

A

Habituation

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54
Q

the accepted terminology by the American Psychology Association for “addiction” - inclusive way of describing people that have varying degrees of addiction but may not be disabled by it - and ultimately to reduce the stigma and encourage people struggling to get help

A

Substance use disorder

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55
Q

Julies lecture
withdrawal symptoms in children

A

loose watery stools
yawning
sneezing
sweating
Agitation
Low grade fever
Tremors
Retching
Vomiting
Easily startled

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56
Q

Withdrawal symptoms in children can occur how long after weaning/cessation

A

8-48 hours

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57
Q

WAT -I score > ____ is concerning for withdrawal

A

3

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58
Q

youngest age to be able to use WAT -I to assess for withdrawal

A

2 weeks old

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59
Q

Younger than 2 weeks, how to assess for withdrawal

A

Neonatal Abstinence Syndrome (NAS)

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60
Q

How often should you monitor Neonatal abstinence syndrome (NAS)

A

q 3-4 hours

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61
Q

NAS score that indicates need for pharmacologic therapy for withdrawal

A

score of 12 x 2 or 8 x 3

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62
Q

preventing IWS (Iatrogenic withdrawal syndrome) during wean

A

Is your patient ready to wean
Equipotent conversion to same class of drug
-Morphine/Fentanyl -> Methadone/Morphine
-Versed ->Ativan
-Clonidine as Adjunct

Assessment tools
Plan for breakthrough treatment
Tapering percentage 10-20% - based on how long they have been on the med.

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63
Q

treatment for end of dose pain
(palliative pain mgmt)

A

increase frequency of dose or increase size of dose so it lasts longer

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64
Q

what is incident pain

A

the patient has controlled pain when lying down but if they get up to ambulate the pain spikes. need additional coverage to address the incident pain in palliative care

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65
Q

type of pain that is unpredictable. previously controlled but has alot more pain that can be due to progression of illness or temporary

A

True breakthrough pain

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66
Q

concept the sum of various inputs (physical, social, spiritual and emotional) all feed into
community
patient
family
medical team all play a part

A

total pain

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67
Q

QUESTT mnemonic
palliative pain and symptom management

A

Question the child
Use the pain rating scale
Evaluate behavior and physiologic changes
Secure parents’ involvement
Take the cause of pain into account
Take action and evaluate results

68
Q

WHO recommendations for pain treatment in palliative care

A

10 use a 2 step strategy

dose at regular intervals

Use appropriate route of administration

individualized treatment plan

69
Q

sudden onset of escalation or recurrence of pain

A

paroxysmal

70
Q

pain caused by a stimulus that typically does not produce pain such as light touch

A

Allodynia

71
Q

Pain resulting from a lesion or dysfunction in the CNS

A

Central pain

72
Q

abnormal sensation that includes painful numbness, burning, tingling and allodynia

A

Dysesthesia

73
Q

inadequate pain relief hastens death by

A

increasing physiologic stress

74
Q

Palliative care
Dyspnea: distressing shortness of breath

what pharmacologic options do you have
nonpharm?

A

Opioids
Diuretics
Bronchodilators
Benzodiazepines
-Inhaled morphine, furosemide by nebulizer

Opioids are most commonly used to control pain and dyspnea at end of life (50% of pain dose)

Non-pharm: Breathing exercises
fan blowing in face
oxygen - doesnt seem to be very helpful
limiting energy consumption
positioning

75
Q

Palliative care

managing cough

pharm
non-pharm

A

Pharm:
steroids
cough suppressants
antibiotics
anticholinergics

nonpharm
elevate head of bed
sit upright
ambulation

76
Q

Palliative care
managing secretions

Pharm
nonpharm

A

Pharm
oxygen
anticholinergics (atropine, glycopyrrolate, scopalomine)

nonpharm
chest physiotherapy
suctioning as tolerated
positioning

77
Q

palliative care
Anorexia/cachexia

pharm
non-pharm

A

corticosteroids - decrease nausea, improve energy

prokinetis: metoclopramide
dopaminergic such as haloperidol
progestogens
Marijuana

part of dying process
offer small meals
avoid nauseating foods
treat nausea/constipation
Use meds to increase appetite
Cyproheptadine
-Dronabinol
Corticosteroids

treat only if bothersome to pt/family

78
Q

fatigue treatment in palliative care

A

Assess treatable causes

anemia -> transfusion

sleep deprivation -> medications

Maximize energetic times

Stimulant medication - Methylphenidate (Ritalin)

79
Q

palliative care for constipation
pharm, nonpharm

A

Pharm
aggressive therapy is best
-stool softener and laxative
osmotic agents such as Miralax
Stimulants such as Senna and Bisacodyl
use treatments together

Nonpharm
fluids
fruids
fruit juices
fiber if tolerated
ambulation

80
Q

6Es strategy for guiding conversations with dying children

A

Establish the importance of open communication between parents, children and caregivers early in the course of illness

Engage: open a dialogue with the child at the appropriate time, being alert to cues of increased stress

Explore: assess what the child already knows and wishes to know about his or her illness

Explain the childs medical condition in a developmentally appropriate manner

Empathize: allow the child to be upset and express his or her feelings

Encourage: Reassure the child that his or her health care providers will be available and continue to support him or her through the disease process and that their family will be there for them

81
Q

what age range
Do not have a true concept of death, but are aware of subtle changes in the mood and structure of the family at large. May develop sleep or feeding problems, changes in behavior, irritability, become clingy or quiet.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1495). Wolters Kluwer Health. Kindle Edition.

A

up to 2 yrs

82
Q

what age range?
* Operate as “magical thinkers” without logic or ability to reason through situations. *Do not see death as permanent, and may believe that past behavior contributed to their sibling’s death (thoughts such as “did he or she die because I got mad at him or her?”).
* Manifest grief through changes in behavior, including fear, developmental regression, altered sleep patterns, temper tantrums.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (pp. 1495-1496). Wolters Kluwer Health. Kindle Edition.

A

Young children
2-6 years old

83
Q

what age range
* Recognize that death is permanent and believe that death is frightening with preconceived notions. Will ask questions. * May develop worries about imaginary personal illnesses; children at this age may also have fears of loss of their parents.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1496). Wolters Kluwer Health. Kindle Edition.

A

school age
6-9 yrs

84
Q

what age range
* Have a very concrete view of death; understand that death is final and that everyone will eventually die, including them.
* Grieving may exhibit their grief through changes in behavior, sleeping or eating habits, and express feelings of guilt that they are healthy and their sibling has died.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1496). Wolters Kluwer Health. Kindle Edition.

A

older children and adolescents (9-18 yrs old)

85
Q
  • When explaining death and the dying process to any child, it is important to use correct language:

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1496). Wolters Kluwer Health. Kindle Edition.

A
  1. Use frank words such as dying and dead, and be clear about the meaning of these words.
  2. Avoid euphemisms such as: a. “______ passed on” (when are they coming back?) b. “We lost ______” (well, go find them)

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1496). Wolters Kluwer Health. Kindle Edition.

86
Q

phrases to avoid when communicating with the parents of the dying child

A
  • “There’s nothing more we can do.”
  • “We are out of options.”

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1497). Wolters Kluwer Health. Kindle Edition.

87
Q

a focus of care and a medical discipline with the primary goal of reducing the morbidity of illness, slowing the progression of disease, and improving a child’s quality of life at any stage of disease.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1498). Wolters Kluwer Health. Kindle Edition.

A

Palliative care

88
Q

*The American Academy of Pediatrics supports an integrated model of palliative care that focuses on both

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1498). Wolters Kluwer Health. Kindle Edition.

A

curative attempts and aggressive measures of palliation throughout the childs disease course

89
Q

goal of palliative care

A

to add life to the childs years, not simply years to the childs life

90
Q

______ care is both a philosophy of care and a method for delivering compassionate, competent, and consistent care to children with chronic, complex, life-threatening illness, with goal of improving quality of life.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1498). Wolters Kluwer Health. Kindle Edition.

A

Hospice

91
Q

Hospice can be provided where?

A

at home
in the hospital
or any other health care facility

92
Q

eligibility for hospice

A

children who have a life expectancy of 6 mos to 1 year

and would receive a clear benefit from the inclusion of hospice services in their daily plan of care but this is a simple guideline and is not always definitive criteria

93
Q

Do you have to have a DNR to be enrolled in Hospice

A

No you do not have to have a DNR or AND (allow natural death)

94
Q

*An order to withhold or limit medical intervention or therapies

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1499). Wolters Kluwer Health. Kindle Edition.

A

DNR/AND

95
Q

An individual who acts as an advocate for a patient who is unable to make decisions on his or her own (due to age or incompetence).

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1500). Wolters Kluwer Health. Kindle Edition.

A

Medical proxy/surrogate decision maker

By default the parents or legally appointed guardian acts as his or her surrogate decision maker

96
Q

who is the medical proxy/surrogate decision maker for a child older than 18 yrs unable to make their own decisions

A

parents and guardians will continue to be their proxy unless another agent is legally appointed to do so

97
Q

A tool/resource (not legal document) designed for children aged 6 to 13 years to help facilitate conversation and allow children to express how they want to be cared for at the end of their life; available in both English and Spanish.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1500). Wolters Kluwer Health. Kindle Edition.

A

My wishes

98
Q

Resource designed for adults, but also appropriate for older adolescents, considered legal document in 42 states and available in 26 languages.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (pp. 1500-1501). Wolters Kluwer Health. Kindle Edition.

A

Five Wishes

99
Q

*Consultation with the ____committee should be considered whenever there is lack of consensus among medical providers or between parents in regard to any withdrawal of mechanical, medical, or nutritional support

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1502). Wolters Kluwer Health. Kindle Edition.

A

ethics

100
Q

death by neurologic criteria, is a legal manner to declare a patient dead.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1502). Wolters Kluwer Health. Kindle Edition.

A

Brain death

101
Q

a clinical diagnosis describing the physiologic state in which a patient’s central neurologic function is irreversibly absent.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 1502). Wolters Kluwer Health. Kindle Edition.

A

brain death

102
Q

to diagnose brain death
what is required

A

guidelines apply for 37 weeks gestation to 18 yrs old
-free of confounding factors (hypothermia, hypotension, resuscitated shock, metabolic and endocrine disturbances, drug or med toxicities and neuromuscular blockade)

  • 2 examinations of the brain stem function with an obs period in between
    37 weeks gestation - 30 days of age, must wait 24 hours

> 30 days of age
obs period of 12 hours

103
Q

Brain death exam consists of

A

full brain stem eval of cranial nerves II-XII
apnea testing

104
Q

what is monitored during apnea portion of brain death exam

A

close eval for any spontaneous resp effort and pre- and post- Paco2 testing should be observed.

A rise in PaCo2 >20 mmHg and absence of resp effort are confirmatory of brain death

105
Q

when should organ procurement organizations be notified?

A

As soon as brain death is suspected

106
Q

what happens if the family doesnt agree to organ donation

A

the pt is declared legally dead and technological support is withdrawn with timing coordinated with the family

107
Q

In cases when a pt does not meet brain death criteria, but is expected to die within an hour after withdrawal of technological support can organ donation still be considered

A

Donation after Cardiac Death (DCD) may be considered

108
Q

the chemical compound that contains the instructions needed to develop and direct the activities of nearly all living organisms.

A

Deoxyribonucleic acid (DNA)

109
Q

An organism’s complete set of DNA is called its

A

Genome

110
Q

direct the production of proteins with the assistance of enzymes and messenger molecules.

A

genes

111
Q

an enzyme copies the information in a gene’s DNA into a molecule called messenger ribonucleic acid (mRNA). The mRNA travels out of the nucleus and into the cell’s cytoplasm, where the mRNA is read by a tiny molecular machine called a ________, and the information is used to link together small molecules called ________in the right order to form a specific protein.

A

ribosome
amino acids

112
Q

Proteins make up body structures like organs and tissue, as well as control chemical reactions and carry signals between cells. If a cell’s DNA is mutated, an abnormal protein may be produced, which can disrupt the body’s usual processes and lead to a disease such as ____.

A

cancer

113
Q

determining the exact order of the bases in a strand of DNA

A

DNA sequencing

114
Q

most common type of DNA sequencing used today

A

sequencing by synthesis (DNA polymerase (the enzyme in the cells that synthesize DNA) is used to generate a new strand of DNA from a strand of interest.
The enzyme incorporates into the new DNA strand that tags it with a fluorescent label. The nucleotide is excited by a light source and a fluorescent signal is emitted and detected. its different depending on which of the four nucleotides were incorporated. Can generate reads of 125 nucleotides in a row and billions of reads at a time

115
Q

Researchers use DNA sequencing for

A

to look for genetic variations and/or mutations that may play a role in the development or progression of a disease.

116
Q

The Human Genome project was led by who

A

led at the National Institutes of Health (NIH) by the National Human Genome Research Institute

117
Q

produced a very high-quality version of the human genome sequence that is freely available in public databases.

A

The Human Genome Project

118
Q

The Human Genome Project : how did they keep anonymity of DNA donors

A

The sequence is from several individuals. However, more blood samples (nearly 100) were collected from volunteers than were used, and no names were attached to the samples that were analyzed. Thus, not even the donors knew whether their samples were actually used.

119
Q

what was the purpose of The Human Genome Project

A

designed to generate a resource that could be used for a broad range of biomedical studies. One such use is to look for the genetic variations that increase risk of specific diseases, such as cancer, or to look for the type of genetic mutations frequently seen in cancerous cells.

120
Q

involves using information about a patient’s genetic make-up to better tailor drug therapy to their individual needs.

A

pharmacogenomics

121
Q

an individual is either missing one of the chromosomes from a pair or has more than two chromosomes instead of a pair

A

A numerical chromosomal abnormality

122
Q

means the chromosome’s structure has been altered in one of several ways.

A

a Structural chromosomal abnormality

123
Q

the structures that hold genes.

A

chromosomes

124
Q

the individual instructions that tell our bodies how to develop and function

A

Genes

125
Q

Many chromosomes have two segments, called “arms,” separated by a pinched region known as the ______. The shorter arm is called the “” arm. The longer arm is called the “” arm.

A

centromere
p
q

126
Q

where are chromosomes located

A

nucleus

127
Q

A picture, or chromosome map, of all 46 chromosomes is called a

A

karyotype

128
Q

The karyotype can help identify

A

abnormalities in the structure or the number of chromosomes.

129
Q

a test to screen a pregnancy to determine whether a baby has an increased chance of having specific chromosome disorders
The test examines the baby’s DNA in the mother’s blood.

A

noninvasive prenatal testing

130
Q

A portion of the chromosome has broken off, turned upside down, and reattached.

A

Inversions

131
Q

A portion of a chromosome has broken off and formed a circle. This can happen with or without loss of genetic material.

A

Rings

132
Q

There are two kinds of cell division

A

mitosis and meiosis

133
Q

results in two cells that are duplicates of the original cell

A

Mitosis

134
Q

results in cells with half the number of chromosomes, 23, instead of the normal 46.

A

Meiosis

135
Q

This is the type of cell division that occurs in the reproductive organs, resulting in the eggs and sperm.

A

Meiosis

136
Q

This kind of cell division occurs throughout the body, except in the reproductive organs. This is the way most of the cells that make up our body are made and replaced.

A

Mitosis

137
Q

Other factors that can increase the risk of chromosome abnormalities are:

A

maternal age
Environment

138
Q

provides national protections against discrimination for health insurance and employment purposes based on genetic test results.

A

The Genetic Information Non-discrimination Act (GINA)

139
Q

when is the newborn screen done

A

The first test is done 24 to 48 hours after birth. The second one is done at the baby’s checkup at one to two weeks of age.

140
Q

when did the Human Genome Project launch and when did it complete

A

Oct 1990
April 2003

141
Q

a term that refers to the study of genes and their roles in inheritance - in other words, the way that certain traits or conditions are passed down from one generation to another.

A

Genetics

142
Q

the most common, fatal genetic disease in the United States

A

Cystic fibrosis (CF)

143
Q

what does Cystic Fibrosis cause

A

causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas, which stops digestive enzymes from reaching the intestine where they are required in order to digest food.

144
Q

what gene is responsible for cystic Fibrosis

A

Mutations in a single gene - the Cystic Fibrosis Transmembrane Regulator (CFTR) gene - causes CF.

145
Q

“sweat test”

A

which measures the amount of salt in sweat - is the standard diagnostic test for those with symptoms. A high salt level indicates CF.

146
Q

To develop CF, a child must inherit a defective gene from

A

both parents

25% chance that each child will have CF and a 50% chance the child will be a carrier

147
Q

Prenatal testing for CF can be done around the ____th week of pregnancy using

A

11th
chorionic villi sampling (CVS).

or fetus can be tested using amniocentesis around 16th week of pregnancy

148
Q

*A child who presents with hyponatremia and hypochloremia

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (p. 179). Wolters Kluwer Health. Kindle Edition.

A

suspect CF

149
Q

a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence.

A

A genetic disorder

150
Q

Genetic disorders can be caused by a mutation in one gene

A

Monogenetic disorder

151
Q

mutations in multiple genes

A

multifactorial inheritance disorder

152
Q

VACTERL stand for

A
  • V: Vertebral defects. * A: Anal atresia. * C: Cardiac. * TE: Tracheoesophageal fistula (TEF) and/or esophageal atresia. * R: Radial and/or renal dysplasia. * L: Limb malformations.

Kline, Andrea M.; Haut, Catherine. Lippincott Certification Review: Pediatric Acute Care Nurse Practitioner (pp. 1441-1442). Wolters Kluwer Health. Kindle Edition.

153
Q

DNA or RNA?

ATCG

A

DNA

154
Q

DNA or RNA?
AUCG

A

RNA

155
Q

In autosomal dominant patterns of inheritance an affected individual has ____% chance of passing to offspring

A

50%

156
Q

In autosomal recessive patterns of inheritance, an affected individual has a ____% of passing to offspring and up to ___% of offspring can become carriers

A

25%
50%

157
Q

types of genetic screening

A

Carrier screening - preconception

NIPT - non invasive - screening, you can screen positive but baby may be born fine

NBS - newborn screen

FISH - fairly accurate but not 100% - looks for specific genes or portion of genes. Can be done in fetal period (amniocentesis) but can be at any point in life. Typically run in newborn period

Familial variant testing - so if you have a kid who is positive, the family is then tested. targeted for that specific variant

158
Q

for an autosomal recessive pattern of inheritance you need how many copies for it to affect offspring

A

2 copies, one from each parent

159
Q

Confirmatory genetic testing classes and tests

A

Chromosomal abnormalities
-CMA - looking at all chromosomes for missing, duplications
-Karyotype- looks at (maps) specific chromosome

Single gene mutations (chromosome is the book, if we open it up and look at the language of the DNA)
-Panel - can start with this if you have an idea…
-Exome - uncertain of what condition of what they have. Takes all DNA. Is anything wrong with any of them.
-Genome - newer technology (harder to get approved). looks at RNA.

160
Q

Confirmatory genetic testing test results

A

Variant classification
-Pathogenic/Diagnostic - disease causing
-Uncertain significance - we see a difference but uncertain on if this is causing the issue
-Benign - known to not be an issue

161
Q

role of genetic counselor in clinical genetics

A

obtain and interpret family history

test utilization and consent

analyze genetic variation and determine pathogenicity

disclose results

estimate recurrence risk for those affected and families

facilitate cascade testing

162
Q

Dx of 22q 11.2 deletion syndrome (DiGeorge)

A

CMA

FISH is screening tool

163
Q

newborn with cardiac defect
cleft palate
serum calcium low
what should be high on your differential

A

22q 11.2 deletion syndrome (DiGeorge)

164
Q

Angelman syndrome is chromosome ____ deletion which is inherited from mother or father?

A

15
mother

165
Q

Prader-Willi syndrome is chromosome ____ deletion which is inherited from mother or father?

A

15
paternal

166
Q

what disease led to the nb screen being standard in children

A

PKU

167
Q

The urea cycle converts ______ t0 _______

A

ammonia to urea

Critical Care 2 (14 decks)

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