Miscellanous Flashcards
1
Q
What is the defective gene in Marfans?
A
Fibrillin-1
2
Q
What are the characteristics of Fragile X syndrome?
A
- Learning difficulties (IQ <70)
- Developmental delay
- Large jaw and forehead
- Long ears
- Dental overcrowding
- High-arched palate
- Macro-orchidism
- Focal seizures
- Hyper-mobile joints
- Pectus excavatum
- Mitral valve prolapse
- Anxiety disorders
- ADHD and Autism
- Recurrent otitis media
- Sleep disturbance
3
Q
What are the features of Turners syndrome?
A
- Short stature
- Delayed development of secondary sexual characteristics
- Primary amenorrhoea
- Dyspraxia
- Poor spatial awareness
- Mild intellectual impairment
- Aortic stenosis
- Bicuspid aortic valve
- Coarctation of the aorta (+/-)
4
Q
Which is the only antibody to cross the placenta?
A
IgG
5
Q
What are the treatment options in gonorrhoea?
A
1st line= IM ceftriaxone
2nd line= cefixime PO and azithromycin PO
6
Q
What is the treatment for tetanus?
A
- Pencilin or Metronidazole
- IV tetanus Ig
- Debridement of the wound
7
Q
Which antibodies are associated with neonatal complete heart block?
A
Anti-Ro and Anti-La
8
Q
What are the different phases of a trial?
A
- Phase I: establish human toxicity of a drug
- Phase II: establish targeted effect of the drug
- Phase III: compare a new drug with the best conventional therapy
- Phase IV: determine long term toxicity of a drug
