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Foundations > Genetic pedigree and family history > Flashcards

Genetic pedigree and family history Flashcards

1
Q

what can constructing a pedigree with accurate family history be used for?

A

Identifying hereditary disorders, determining inheritance patterns, determining recurrence risks, identifying at risk individuals and not at risk individuals

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2
Q

What does the SCREEN Mneumonic stand for?

A

SC- some concerns about diseases that run in family
R- Reproduction problems
E- a history of early disease death or disability in family
E- Ethnicity of patient
N- Non-genetic risk factors or medical conditions that run in family

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3
Q

What is the Correct documentation of family history?

A

Correct diagnosis or disease
Age of onset
Cause of death
Relationships between family members
Whether there is a consanguinity
Ethnic background of both sides

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4
Q

What does Consanguinity mean?

A

Blood related

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5
Q

What are some barriers for correct family history?

A

Lack of time
Incomplete records
Inaccessible family members
Incorrect or vague diagnosis
Blame or guilt
Multiple caretakers for child
Poor answer to questions
Fear of discrimination and stigmatization
Lack of physician reimbursement
Difficulty finding family history in patient records
Difficulty entering and updating comprehensive information into EMR

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6
Q

What are red flags in family history?

A

Too and two
Ex two tumors, two generations, two birth defects
Ex too tall, too short, too early, too many

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7
Q

How many generations in pedigree is ideal?

A

3

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8
Q

What is the order of making a pedigree

A

Core family
Aunts uncles
Cousins
Grandparents and siblings
Identify individuals with genetic conditions to understand disorders in family

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9
Q

What are the most common inheritance patterns?

A

autosomal dominant
autosomal recessive
x-linked recessive
multifactoral

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10
Q

Autosomal dominent

A

Seen in consecutive generations in females and males
Presentation can vary among those family members who are affected
Male to male transmission implies dominant transmission

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11
Q

Autosomal recessive

A

Usually not found in every generation of the family and sometimes affects only one member of an entire extended family. Can be males and females

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12
Q

X-linked recessive

A

If only males in the extended family are affected by genetic condition or condition more severe in males than females than x linked recessive condition should be considered

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13
Q

Multifactoral

A

Set pattern not evident, so multiple individuals can be affected in multiple generations. Multifactoral conditions can be caused by a combination of genetic and environmental factors

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14
Q

What is the incidence of birth defects?

A

3%

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15
Q

When can birth defects present?

A

Later in infancy, childhood, or adulthood

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16
Q

what percent of pediacric hospitalizations are due to genetic causes?

A

12%, and 71% of these are due to disorder with significant genetic component

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17
Q

about what percent of families have tried to gather and organize families health histories?

A

33%

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18
Q

What risk categories do clinicians classify individuals into after this analysis?

A

Average, moderage, and high risk

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19
Q

What can early identification of individuals at high risk do?

A

improve, delay, or prevent adverse outcomes in many cases

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20
Q

Can you draw an autosomal dominant pedigree?

A

Yes

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21
Q

Can you draw and autosomal recessive pedigree?

A

Yes

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22
Q

Can you draw an x-linked pedigree?

A

Yes

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23
Q

QOD

A

Every other day

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24
Q

q

A

every

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25
Q

HS

A

at bedtime

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26
Q

gtt

A

Drops

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27
Q

ABX

A

antibiotics

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28
Q

OCP

A

Oral contraceptive pills

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29
Q

HTN

A

hypertension

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30
Q

DM

A

Diabetes mellitus

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31
Q

HIV

A

Human Immunodeficiency syndrome

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32
Q

AIDS

A

Aquired immunodificiency syndrome

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33
Q

CAD

A

Coronary artery disease

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34
Q

CHF

A

Congestive heart failure

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35
Q

CA

A

Cancer

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36
Q

LUL

A

Left upper lobe

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37
Q

LLL

A

Left lower lobe

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38
Q

RML

A

Right middle lobe

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39
Q

-osis

A

disease process or condition

39
Q

-otomy

A

incision

39
Q

-ectomy

A

surgical removal of something

39
Q

-ostomy

A

stoma or opening/ a new opening

40
Q

pathognomic

A

sign or symptom specifically characterized by disease

40
Q

gold standard (hint: pertains to labs/diagnosis)

A

diagnostic test or benchmark best available under reasonable conditions, most accurate test possible

40
Q

differential diagnosis

A

differentiating between 2 or more conditions which share symptoms or present similarly

40
Q

Fistula

A

Abnormal connection between 2 body parts such as organ or vessels, results usually of injury or surgery

41
Q

Morbidity

A

condition suffering from disease or medical condition, total number of conditions/total population is morbidity rate

42
Q

mortality

A

number of deaths due to disease/ total poplation is the rate

43
Q

secondary to

A

caused by

44
Q

Demographics

A

address, name, sex, race, phone number, email

45
Q

Multifactorial

A

more than 1 factor that causes trait or health problems

46
Q

etiology

A

cause or causes of disease

47
Q

Hx
h/o
S/S

A

History
History of
Signs and symptoms

48
Q

Sx
Tx
Dx
Rx

A

symptoms
treatment
diagnosis
perscription

49
Q

ddx
bx
fx
pt

A

differential diagnosis
biopsy
fracture
patient

50
Q

rxn
dz
2/2

A

reaction
disease
secondary to (caused by)

51
Q

POD #_
c/o
d/c

A

post-op day _#
complaints of
discontinue or discharge

52
Q

ED

A

Emergency department
or erectile disfunction

53
Q

H&P
NPO
MVA/MVC

A

History and physical
nothing by mouth
Motor vehicle accident/motor vehicle crash

54
Q

NK(D)A
RF
WNL

A

No known (drug) allergies
Risk factor
Within normal limits

55
Q

CXR
FB
FNA

A

Chest x-ray
Foreign body
Fine needle aspiration

56
Q

I&D
A&O
F/C
N/V

A

Incision and drainage
Alert and oriented
fever and chills
Nausea and vomitting

57
Q

CP
GI
GU
HA
GSW

A

Chest pain (or cerebral paulsy)
Gastrointestinal
Genitourinary
Headache
Gunshot wound

58
Q

Hgb/Hb
Hct
H/H

A

Hemoglobin
Hematocrit
hemoglobin/hematocrit

59
Q

LBP
NAD
SOB
URI

A

Lower back pain
No Acute distress
Shortness of breath
Upper respiratory infection

60
Q

OD
OS
OU

A

OD= right eye
OS= left eye
OU= both eyes

61
Q

Details of comprehensive health history

A
  1. patient information (demographics)
  2. Chief complaints
  3. History of present Illness (HPI)
  4. Past medical history
  5. Concomitent meds and allergies
  6. Family history
  7. Personal and social history
  8. Review of systems (document presence or absence of common symptoms of each major body system)
62
Q

what is CC?

A

chief complaint

63
Q

How to elaborate on CC

A

HPI (history of present illness) shows how CC came to be; onset of problem, setting which it developed, manifestations, treatments to date

64
Q

how to ask about CC; attributes of a symptom

A

1.Location
2. Quality- describe pain for me
3. Quantity/severity- can you rate pain on scale of 1-10 with 10 being worst pain?
4. Onset- setting it occurs or circumstances cause pain to worsen or improve
5. Duration- how long does it last
6. Frequency- how often does it happen
7. Modifying factors- what helps or hurts it?
8. Other signs or symptoms concomitantly occurring

65
Q

what does pneumonic OLD CARTS stand for with symptoms?

A

Onset
Location
Duration
Character
Aggravating or Alleviatingfactors
Radiation
Timing
Setting

65
Q

Past medical history, what are the 4 categories you need to ask about?

A

Medical
Surgical
Obsetric/gynelogic
Psychiatric

Health maintence
(childhood as well)

65
Q

What do you need to ask about when taking a PMH for childhood histories?

A

History of measles, rubella, mumps, whooping cough, chicken pox, rheumatic fever, scarlet fever, polio, asthma, diabetes

66
Q

when taking PMH, what history do you need to ask about in the “medical” category?

A

Diabetes mellitus, High BP, Heart attack, hepatitis, asthma, HIV, seizures, arthritis, TB, Cancer time frames and hospitalizations

67
Q

when taking PMH, what history do you need to ask about in the “Surgical” category?

A

Dates and types of operations

68
Q

when taking PMH, what history do you need to ask about in the “Obsetric/gynelogic” category?

A

Obstetric and menstrual history, contraception and sexual function

69
Q

when taking PMH, what history do you need to ask about in the “Psychiatric” category?

A

Depression, anxiety, suicidal ideations and attempts; time frame, diagnoses, hospitalizations and treatments

70
Q

when taking PMH, what history do you need to ask about in the “Health Maintenence” category?

A

Immunizations and screening tests they are due for

tetanus, pertussis,
diphtheria, polio, measles, rubella, mumps, influenza,
varicella, hepatitis B virus (HBV), human papillomavirus
(HPV), meningococcal disease, Haemophilus influenzae
type B, pneumococci, and herpes zoster. For screening
tests, review tuberculin tests, Pap smears, mammograms,
stool tests for occult blood, colonoscopy and cholesterol
tests, together with results and when they were last
performed.

71
Q

what falls under the category of personal and social history that can be discussed?

A

This is to personalize relationship with patient. Ask about Education level, Sexual orientation and gender identity, safety in relationships, financial situation, leisure activities, social support systems, baseline level of function for ADLs, also about history of tobacco, alcohol or recreational drug use, and sexual history

72
Q

For personal and social history, what type of screening questions are used for alcohol history?

A

CAGE- cutting down, annoyance when criticized, guilty feelings, and eye openers

A more
preferred well-validated short screening test is the Alcohol
Use Disorders Identification Test-Concise (AUDIT-C)- identifies not only harmful drinkers but Hazardous drinkers who have not been harmful yet and respond better to interventions of reducing consumption

73
Q

for personal and social history, when asking about sexual history what do you need to ask?

A

Partners
Practices- what kind of sex
Protection from STIs
Past history of STIs
Pregnancy plans
Plus- assessment of trauma and violence

74
Q

for social and personal history, what do you need to ask about for spiritual history?

A

Faith or Beliefs- do they have faith or religion

Importance and Influence- in their life

Community - are you apart of spiritual or religious community

Address - How would you like me as a healthcare provider to address these issues in your health care?

can refer a hospital chaplain

75
Q

How to prepare for a physical examination

A

1.Reflect on your patient- greet them and explain things will take longer as you are student
2. Adjust lighting and environment
3. Check equipment
4. Make patient comfortable
5. Observe universal precautions
6. Choose sequence, scope, and positioning of physical exam

76
Q

What position is patient laying in in Lithotomy?

A

on their back with feet in the air

77
Q

What position is patient laying in for Dorsal recumbent

A

on their back with knees bent

78
Q

What position is patient laying in for Trendelburg

A

flay, table is angled up with their head on lower side 15-30 degrees

79
Q

What position is patient laying in for reverse Trendelburg

A

flay, table is angled up with their feet on lower side 15-30 degrees

80
Q

What position is patient laying in for Lateral Recumbent

A

on their front with their legs off to one side bent

81
Q

What angle is table with semi-fowlers? With standard fowlers? With high fowlers?

A

30 degrees
45 degrees
90 degrees

82
Q

Cardinal techniques for examination

A

Inspection
Palpatation
Percussion
Auscultation

83
Q

pyrexia

A

elevated body temperature

84
Q

hyperexia

A

extreme body temperature greater than 106 degrees F

85
Q

somatic (nociceptive) pain

A

tissue damage to
the skin, musculoskeletal system, or viscera (visceral pain),
but the sensory nervous system is intact, as in arthritis or
spinal stenosis. It can be acute or chronic. It is mediated by
the afferent A-delta and C-nerve fibers of the sensory
system.

It is usually described as dull, pressing, pulling, throbbing,
boring, spasmodic, or colicky.

86
Q

neuropathic pain

A

direct consequence of a lesion or
disease affecting the somatosensory system. Over time,
neuropathic pain may become independent of the inciting
injury. It may persist even after healing from the initial injury
has occurred.

It is often described as electric shock-like, stabbing, burning,
or “pins and needles.”

87
Q

Primary (essential) hypertension

A

is the most common
cause of hypertension: risk factors include age, genetics,
black race, obesity and weight gain, excessive salt intake,
physical inactivity, and excessive alcohol use

88
Q

Secondary hypertension

A

accounts for <5% of
hypertension cases. Causes include obstructive sleep
apnea, chronic kidney disease, renal artery stenosis,
medications, thyroid disease, parathyroid disease,
Cushing syndrome, hyperaldosteronism,
pheochromocytoma, and coarctation of the aorta

Foundations (3 decks)

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