Bits and bobs Flashcards
gene and chromosome cystic fibrosis
CFTR - codes a cAMP-regulated chloride channel
F508 on the long arm of chromosome 7
Organisms which may colonise CF patients?
Staphylococcus aureus
Pseudomonas aeruginosa
Burkholderia cepacia
Aspergillus
Diagnostic test cystic fibrosis
sweat test - high sweat chloride
normal value < 40 mEq/l,
CF indicated by > 60 mEq/l
Cystic fibrosis drug
Lumacaftor/Ivacaftor (Orkambi)
Fluclox to prevent s.aureus
Investigation bronchiolitis
immunoflurescence of nasal secretions may show RSV
Investigation - pyloric stenosis
Ultrasound to visualise thickened pylorus
Blood gas pyloric stenosis
Hypochloric, hypokalaemic metabolic alkalosis
Management pyloric stenosis
laparoscopic pyloromyotomy
known as Ramstedt’s pyloromyotomy
management of transposition of the great arteries
- prostaglandin infusion
- Balloon septostomy
- Open heart surgery
Fever pain score?
A score of 2 – 3 gives a 34 – 40% probability (consider abx) and 4 – 5 gives a 62 – 65% probability of bacterial tonsillitis (give abx)
Fever during previous 24 hours
P – Purulence (pus on tonsils)
A – Attended within 3 days of the onset of symptoms
I – Inflamed tonsils (severely inflamed)
N – No cough or coryza
recurrent tonsilitis tonsilectomy criteria
> 3 episodes per year for 3 years
5 episodes per year for two years
7 episodes in a single year
- refer to ENT
what lobe?
seizure
Hallucinations (auditory/gustatory/olfactory), Epigastric rising/Emotional, Automatisms (lip smacking/grabbing/plucking), Deja vu/Dysphasia post-ictal)
Temporal lobe (HEAD)
What lobe seizure?
Head/leg movements, posturing, post-ictal weakness, Jacksonian march
Frontal lobe (motor)
what lobe seizure?
paraesthesia
Parietal lobe (sensory)
what lobe seizure?
floaters/flashes
Occipital lobe (visual)
What contraceptives are unaffected by enzyme inducing anti-epleptic drugs?
Copper intrauterine device
Progesterone injection (Depo-provera)
Mirena intrauterine system
criteria for diagnosis of rheumatic fever
A diagnosis of rheumatic fever can be made when there is evidence of recent streptococcal infection, plus:
Two major criteria OR
One major criteria plus two minor criteria
The mnemonic for the Jones criteria is JONES – FEAR.
Major Criteria:
J – Joint arthritis
O – Organ inflammation, such as carditis
N – Nodules
E – Erythema marginatum rash
S – Sydenham chorea
Minor Criteria:
Fever
ECG Changes (prolonged PR interval) without carditis
Arthralgia without arthritis
Raised inflammatory markers (CRP and ESR)
investigations rheumatic fever
Throat swab for bacterial culture
ASO antibody titres
Echocardiogram, ECG and chest xray can assess the heart involvement
A diagnosis of rheumatic fever is made using the Jones criteria
Brain scan where does encephalitis classically affect
temporal lobe
inheritance percentages children carrier and affected - autosomal recessive
autosomal recessive condition there is a 50% chance that their next child will be a carrier
25% chance that the child will actually have the disease (be homozygous).
pathophysiology ITP
Antibodies are directed against the glycoprotein IIb/IIIa or Ib-V-IX complex. It is an example of a type II hypersensitivity reaction.
when is management indicated for ITP? what are options?
If the platelet count is very low (e.g. < 10 * 109/L) or there is significant bleeding.
- oral/IV corticosteroid eg prednisolone
- IV immunoglobulins
- platelet transfusions can be used in an emergency (e.g. active bleeding) but are only a temporary measure as they are soon destroyed by the circulating antibodies
when can children with scarlet fever return to school?
24 hours after commencing abx
Hypsarrhythmia on EEG
Infantile spasms (west’s syndrome)