Week 4 Random Flashcards
Standard stain for blood
Wright or Giemsa stain
Monocytes differentiation
Liver = Kupffer cells
Connective Tissue = Macrophage
Lung = Macrophage
Brain = Microglia
Religion vs. Spirituality
Religion has collective strict approach WHILE Spirituality has individual broad aproach
Cystic Fibrosis
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,
Inheritance complicating factors
- allelic heterogeneity (dominant / recessive) – CF, IGHD, Osteogenesis imperfecta
- 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
IGHD
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)
Osteogenesis imperfecta
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)
Type 1 collagen composition
a1(I) collagen (COL1A1 gene, grey)
a2(I) (COL1A2 gene, black)
Rb
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
NF1
Neurofibromatosis type I
Approximately half of NF1 cases are due to spontaneous new mutations
Most (2/3) have only mild cutaneous involvement.
Marfan
Defect in connective tissue; affects skeletal muscle, eye, and heart.
All affected individuals in one family have the identical mutation
very different manifestation
Rate of allele loss across diseases
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
3 types of standard stains
- Stains that differentiate between acidic and basic components of the cells
- Specialized stains that differentiate the fibrous components of the extracellular matrix
- Metallic salts that precipitate on tissues, forming metal deposits on them
The most common stain
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
Classic blood stain
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
HPI
OLDCARTS: Onset Location Duration Characteristics Aggravating Factors Relieving Factors Treatment
PMH
MASHI: Medications, surgeries, allergies, hospitalizations, immunizations
Fam Hx
CHADS: Cancer, Heart&Hypertension, Astma, Diabetes, Stroke
Soc Hx
SODAS: Smoking, occuptation, diet&drugs, alcohol, sexual history
ROS
Head to toe
Taking history settings
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
H&P characteristics
Legal Document
Patient’s history and exam
Means of communicating information
HPI (class)
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?”
HPI example
Bill is a X yo gentleman/lady who presents with the chief complaint of X for time with PMH of X since X time .