KEY Flashcards
Inheritance of haemophilia
X linked recessive
haemophilllia A
factor VIII deficiency
haemophillia B
factor IX deficiency
inheritance of cystic fibrosis
autosomal recessive
genetics of trisomy 14
errors of chromosomal separation (non disjunction)
What is meant by mosaic?
some cells contain the extra chromosome while others are normal
Downs syndrome?
trisomy 21
what is chromosome translocation?
chromosome abnormality caused by rearrangements between non homologous chromosomes
What is meant by balanced and unbalanced translocation?
an even exchange of information
uneven exchange of information resulting in extra or missing genes
Cause of downs syndrome extra 21 chromosome?
non disjunction (failure of 21st chromosome to separate in egg or sperm) or robertsonian translocation
main neurotransmitter involved in sleep?
melatonin
treatment of cervical cancer stage 2?
chemoradiation (cisplatin)
surgery
what is stage 2 cervical cancer?
cancer has spread outside the cervix
what does prothrombin time measure and when is it used?
warfarin
extrinsic pathway
I/fibrinogen, II/prothrombin, V, VII, X
what does APTT measure and when is it used?
un fractioned heparin
intrinsic pathway
I/fibrinogen, II/prothrombin, V, VIII, IX, X
formation of fibrin clot?
TF/VIIa initiates
V/Xa - prothrombin to thrombin- fibrin to fibrinogen
VIII/IXaamplified by thrombin
what are the vit k dependent clotting factors?
II(prothrombin), VII, IX, and proteins C, S
What is stage 1B ovarian Ca?
tumour limited to both ovaries
How do you treat stage 1B ovarian Ca?
salpingo oopherectomy and hysterectomy
what are the treatments for advanced ovarian Ca?
surgery and chemo
reed sternbergs cells?
hodgekins lymphoma
radial nerve damage?
humerous fracture
wrist drop
loss of sensation in back of hand except little finger and half of ring (ulnar)
median nerve damage?
injuries to forearm
loss of ability to abduct and oppose the thumb- ape hand deformity
sensory loss in thumb to half of ring finger
Axiliary nerve damage?
during shoulder dislocation
loss of sensation in badge area
philadelphia chromosome?
reciprocal translocation between chromosome 22 and 9. new material on 22 codes for a tyrosine kinase signalling protein that causes the cell to divide uncontrollably
seen in CML
syndenhams chorea?
rapid uncoordinated jerky movements primarily in hands face and feet
results from childhood infection of Group A strep resulting 6 months after
What is lie?
relationship of fetal longitudinal axis to longitudinal axis of uterus
longitudinal
transverse
oblique
What is presentation?
leading part presenting into pelvis
What is the vertex?
part of the fetal head lined by ant and post frontanelles and parietal emnences
what is the position?
position of the presenting part in relation to mother
OA, OP
what is the station?
location of presenting part in birth canal-5 to -1 above imaginary line at ischial spines 1 to 5 below