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Week 4 Random Flashcards

1
Q

Standard stain for blood

A

Wright or Giemsa stain

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2
Q

Monocytes differentiation

A

Liver = Kupffer cells

Connective Tissue = Macrophage

Lung = Macrophage

Brain = Microglia

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3
Q

Religion vs. Spirituality

A

Religion has collective strict approach WHILE Spirituality has individual broad aproach

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4
Q

Cystic Fibrosis

A

Pleiotropic

Allelic Heterogenity

Affects multiple organs exocrine pancreas, intestine, respiratory tract, male genitalia, hepatobillary system, and exocrine glands.

CFTR mutations: nonsense, block in processing deltaF508 (70%), regulation block, altered conductance, reduced synthesis

Obstruction of lungs, pancreating inefficiency,

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5
Q

Inheritance complicating factors

A
  1. allelic heterogeneity (dominant / recessive) – CF, IGHD, Osteogenesis imperfecta
  2. locus heterogeneity (X-linked / autosomal) – OI, Hemophilia, Charcot-Marie-Tooth disease

reduced-penetrance – Retinoblastoma, Van der Woude Syndrome

variable expressivity – NF1, Marfan, Van der Woude Syndrome

pleiotropy

new mutations - Achrondroplasia

germline mosaicism - NF1, OI, DMD

delayed age of onset - Hunington disease

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6
Q

IGHD

A

Familial isolated growth deficiency

Mutation in GHI gene csome 17 that encodes pituitary growth hormone

GHI protein acts as a dimer

LOF (recessive) and GOF dominant negative (dominant)

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7
Q

Osteogenesis imperfecta

A

Clinically heterogeneous disease characterized by brittle bones.

All forms caused by defects in type I collagen.

All forms autosomal dominant, but differ in severity.

Two forms mild (recessive 50% expression) and severe (DN) caused by one mutation in COL1A1 gene on csome 17

Also can be caused by COL1A2 mutations (locus heterogenity)

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8
Q

Type 1 collagen composition

A

a1(I) collagen (COL1A1 gene, grey)

a2(I) (COL1A2 gene, black)

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9
Q

Rb

A

Retinoblastoma

Mutation in tumor supressor RB gene

60% sporadic 40% familial

Rb is a “two-hit” process.

Penetrance: 10% of obligate (familial) carriers do not express the disease

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10
Q

NF1

A

Neurofibromatosis type I

Approximately half of NF1 cases are due to spontaneous new mutations

Most (2/3) have only mild cutaneous involvement.
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11
Q

Marfan

A

Defect in connective tissue; affects skeletal muscle, eye, and heart.

All affected individuals in one family have the identical mutation

very different manifestation

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12
Q

Rate of allele loss across diseases

A

DMD 1/3 lost every generation

Achondroplasia 7/8 lost every generation

Tay Sachs all alleles are lost

CF loss is low

OI type II all alleles are lost

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13
Q

3 types of standard stains

A
  1. Stains that differentiate between acidic and basic components of the cells
  2. Specialized stains that differentiate the fibrous components of the extracellular matrix
  3. Metallic salts that precipitate on tissues, forming metal deposits on them
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14
Q

The most common stain

A

Hematoxylin and Eosin

Nucleus, rER - blue;

Cytoplasm-varying shades of red;

Collagen-very pale pink;

Cartilage and calcium deposits-dark blue;

Red blood cells-bright red

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15
Q

Classic blood stain

A

Wright and Giemsa Stains

Erythrocytes, eosinophilic granules- pink

Neutrophilic granules-pink to purple

Basophilic granules-dark blue

Leukocyte nuclei, basophilic granules-purple

Cytoplasm of monocytes and lymphocytes-blue

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16
Q

HPI

A

OLDCARTS: Onset Location Duration Characteristics Aggravating Factors Relieving Factors Treatment

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17
Q

PMH

A

MASHI: Medications, surgeries, allergies, hospitalizations, immunizations

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18
Q

Fam Hx

A

CHADS: Cancer, Heart&Hypertension, Astma, Diabetes, Stroke

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19
Q

Soc Hx

A

SODAS: Smoking, occuptation, diet&drugs, alcohol, sexual history

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20
Q

ROS

A

Head to toe

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21
Q

Taking history settings

A

Introduce yourself

Address patient properly

Eye contact

Respectful to symptoms & pain

Flexible

No assumptions

Comfort for all involved

Removal of physical barriers

Sit dow

Good lighting

Privacy

Noise level

Simple Talk

Simple Notes

No leading questions

Clarify uncertainty

Verify and Summarize

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22
Q

H&P characteristics

A

Legal Document

Patient’s history and exam

Means of communicating information

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23
Q

HPI (class)

A

O – onset – “when did it start?”

P - provocation/palliation – “anything make it better or worse?”

Q – quality – “what do you mean by ‘tired’?”

R – radiation – (best for pain) “does the pain radiate anywhere?”

S – severity – “how bad is it on a scale of 1-10…” or “what can you do now vs what could you do before this started?”

T – timing – “when did this start?”

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24
Q

HPI example

A

Bill is a X yo gentleman/lady who presents with the chief complaint of X for time with PMH of X since X time .

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25
Sensitive Issues
Ensure Privacy Direct Act comfortable Explain why No preaching Remain respectful
26
Clinic introduction
Introduce yourself Explain who you are Explain the purpose of the interview/exam Ask for permission to proceed My name is X and I am a first year medical student working in the clinic today with X. I will be taking your initial history and doing a physical exam, if that is okay with you.
27
Sticky ends
Cohesive ends
28
Electrophoresis probes and medium
probes: Ethidium Bromide, SYBR green medium: -agarose and polyacrylamide
29
Vectors (cloning)
Double Stranded circular molecules Occur naturally in bacterial cells Self-replicating Small size advantage
30
Plasmid vectors
ORI Multiple Cloning Site Antibiotic Resistance Small Size Screening Marker
31
2 types of genetic libraries
Genomic DNA library cDNA library
32
Hybridization detail
Probes are complementary ssDNA/RNA Must be single stranded to hybridize Can be labeled with fluorescent dyes Very sensitive = can detect 1 molecule per cell Very selective = difference in 1 base pair
33
Recombinant DNA Techniques
Restriction Enzymes DNA cloning Nucleic acid hybridization Sequencing of DNA fragments Genetic engineering
34
RT-PCR
Quanitification in real time absolute number of relative to normalized genes Methods: (1) Fluoresence dye that interacalate with dsDNA (2) Fluoresent problem when hybridized
35
Mapping two types
Genetic (linkage), markers used SNP, SSLP, RFLP Physical (DNA): restriction mapping, FISH, STS (unique sequences)
36
Analyzing region
DNA Probe PCR Primers
37
Requirements for mammalian cell expression
cells: HeLa, HEK, 3T3 Mammalian promoter must be present in the plasmid Antibiotic selection
38
Regulated gene expreesion
Tet repressor protein and inducer tetracycline
39
Transgenic mouse
1. Embryonic Stem cell technology (homologous recombination) - Cre recombinase \* including IRES 2. Pronucleus micro-injection
40
Describe the term genetic engineering.
manipulation of DNA sequences and re-introduction into viable organisms
41
recombinant DNA
DNA molecules that are generated by splicing together 2 or more fragments
42
Application of Southern and Norther blot
Identify the presence of a product Determine the size Detect the abundance Map the positon of introns and exons and stop and start sites of transcription Detect SNPs
43
Application of Microarrays
Study thousands genes at the same time Determine gene expression Determine expression patterns Diagnostic and screening tool Tumor classification, risk assestment, prognosis, drug development, monitoring
44
Application of PCR
Carrier screening Prenatal diagnostic testing Newborn Screening Forensic/identity testing
45
Why allelic heterogeneity is important in cystic fibrosis?
One allele might cause pancrease to be sufficient, while another not (affect median age).
46
If no mutation is detected in a patient, does it mean that the patient is not affected?
Not, 2% of alleles are unknown. 70% are dF508 and 28% account for 96 mutations
47
What is important IGHD in terms of allelic heterogenity?
It can be both recessive (haplosufficient) and domiant (DN).
48
What is important about OI in terms of allelic heterogeneity?
Both forms are dominant but differ in severity Type I = Reduce the alpha1 production (by 50%), and some alpha2 are degraded (Haploinsuficient) Type II = All alpha2 that bind to alpha1 mutant are degraded
49
What is important about Hemophila in terms of locus heterogenity?
Two types of hemophila are due to the mutation in factor VIII and XI - type A and B.
50
What is important about congenital deafness in terms of locus heterogenity?
autosomal recessive = congenital deafness Two individuals that are affected might produce health children.
51
What is important about Dwarfism (achondroplasmia vs. diastrophic dwarfism) in terms of locus heterogeneity?
Achondroplasia is autosomal dominant and nearly all (7/8 cases are sporadic). Diastrophic dwarfism is autosomal recessive.
52
What is important about reinoblastoma in terms of non-penetrance?
An autosomal dominant disease where penetrance is 90% 10% of obligate carriers do not express the disease \* 60% are sporadic and 40% are familial
53
Penetrance
All or none phenomenon; refers to the frequency of expression of a dominant disorder in an obligate heterozygote Defined quantitatively as the proportion of obligate heterozygotes that express the disease (determined empirically from population data).
54
Variable expressivity
Penetrance is complete But the severity is variable Individuals with mild forms of the disease may not be diagnosed. Mildly affected parent can have a severely affected child.
55
What is important about neurofibromatosis in terms of variable epxressivity?
Some cases might be mild and go unnoticed. Children of mildly affected parents might severe effects. 2/3 of cases have mild effects.
56
What is important about Marfan Syndrom in terms of variable expressivity?
All individuals have one identical mutation. However, the manifestation of the disease is very different.
57
Disease with both penetrance and variable expressivity
Van der Woude Syndrome
58
Disease associated with both Variable expressivity and penetrance
Van der Woude Synrome | (Cleft lip/palate)
59
Which disease are example of germline mosaicism?
DMD, NF1, and O1
60
Which disease is associated with nearly all new mutations?
Achondroplasia O1 type II (possible germline mosaicism)
61
Germline mosaicism
The risk is elevated

Block 1 (25 decks)

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