Miscellaneous

Question 1

Telomeropathy syndrome:

Answer 1

• TERT, TERC, RTEL1 and PARN
  
  • Telomeropathy syndrome:
    
    • High turnover:
      § Premature greying
      § Aplastic anaemia
      § Macrocystosis
      § Thrombocytopenia
      § Opportunistic infections in B, T, NK cell immunodeficiency
    • Low turnover:
      § Pulm fibrosis
      § Premature onset of emphysema
      § Cryptogenic cirrhosis
      § Osteoporosis
      § Avascular necrosis
    • Cancer:
      § Epithelial cancers
      § Haemotological cancers
    • Disease onset becomes younger with generations
      Evolving of disease phenotype

Question 2

PTPN22

Answer 2

associated with RA and T1DM

Question 3

Male to male transmission

Answer 3

Likely AD

Marfans
NF
TS
Achondroplasia
Myotronic dystrophy (triple repeat disorder - maternal anticipation)
Huntington disease (triple repeat disorder CAG - paternal anticipation)
Family cancer syndrome - BRCA, Lynch

Question 4

Lab interference with biotin

Answer 4

affects lab reading for TSH (low), T4/T3 (high), making it look like hyperthyroidism.
mainly due to significant amount of biotin supplement

Also in HepB and troponin assays

now not a problem

Question 5

Hook effect

Answer 5

Rare
Detected and subjected to autodilution/flagging

due to occupying capture to the extend there is not enough for the amount in the blood

Question 6

free hormone hypothesis

Answer 6

Free hormone levels may not be accurate due to influence on it’s affinity (i.e. acidosis, pregnancy, renal failure)

Good example is vitamin D being low in pregnancy

Question 7

Liquid chromotomagray

Answer 7

very sensitive
but very slow
used for mTOR levels
Stroid hormones

Question 8

Harmonisation

Answer 8

no source of truth
All assays agree with each other
Benefits: comparable results between lab with single reference range

Risks of missing method peculiarities

i.e. HbA1c

Question 9

Sideeffects of MMF

Answer 9

GI upset
Leukopenia
Thrombocytopenia
Anaemia
Infection
Malignancy

Question 10

independent CV RF in CKD

Answer 10

Albuminuria and eGFR

Question 11

ADR of LAMAs

Answer 11

DRY MOUTH - most common
Dyspepsia
Gastroenteritis
Insomnia
Irritationof nasal and throat
Rhinitis
Sinusitis

Glycopyrronium - LAMA, it also has some anticholinergic action