Pre-clinical SAQs (Foundation topics) Flashcards
young girl, PMH of long bone fractures, resulting from minor injuries.
sclerae appears blue, skin is hyperextensible and she has difficulty hearing.
patient most likely has
- osteogenesis imperfecta
- type 1 collagen defect
effect of dietary deficiency of vitamin C on collagen
- ascorbic acid required as a co-factor
- required for hydroxylation of amino acids in collagen (proline and lysine)
- hydroxylation allows increased hydrogen bonding
- to stabilise triple helix
- lack of vitamin C –> weak tropocollagen triple helices –> scurvy
how might you screen for CF?
- newborn screening via immunoreactive trypsinogen
- The concentration of IRT is elevated in babies with CF since pancreatic ducts are partially blocked leading to abnormal enzyme drainage.
penetrance
proportion of individuals carrying a particular variant of a gene that also expresses an associated phenotype
CF briefly caused by
- autosomal recessive
- CFTR mutation on chromosome 7
Duchennes muscular dystrophy is inherited as
X-linked recessive
skeletal muscle
- striated
- peripheral located nuclei
- multi-nucleated
- voluntary
smooth muscle
- non-striated
- centrally located nuclei
- spindle shaped cells
- involuntary
Smooth criminal in central station ;)
cardiac muscle
- striated
- centrally located nuclei
- branching cells
markers of muscle cell damage
- myoglobin
- troponin
- AST
Duchenne muscular dystrophin
no dystrophin protein produced,
dystrophin needed for sarcolemma stability
progressive proximal muscular dystrophy
distinctive psuedohypetrophy of calves
Beckers muscular dystrophy
abnormal dystrophin produced
which cells form collagen in cartilage
chondrocytes
factors that cause a right shift of the oxygen dissociation curve
- increased temp
- decreased pH
- increased 2,3 DPG
60 y/o male, sudden dysponea, pleuritic chest pain. D-Dimer elevated. resp rate 32. BP 95/60mmHg
pulmonary embolism
summarise 4 neurological cells in brain
- astrocytes
- oligodendrocytes (myelin sheath in CNS)
- microglial cells (scavenger cells that remove cellular debris from sites of injury)
- ependymal cells (production of CSF)
by which process is bone formed directly without using cartilage as a template?
- intramembranous ossification
- process uses mesenchymal tissue in development of long bones
endochondral ossifcation
- uses hyaline cartilage
- as a model for formation of long bones