Discover and read the best of Twitter Threads about #valuevignettes
Most recents (2)
1/
PNH. Paroxysmal Nocturnal Hemoglobinuria. One of those diseases we read about, but perhaps don’t see as often.
Why does it get a disproportionate amount of attention?
Because the pathophysiology is SPECTACULAR!!
Read on to explore.
#valuevignettes
PNH. Paroxysmal Nocturnal Hemoglobinuria. One of those diseases we read about, but perhaps don’t see as often.
Why does it get a disproportionate amount of attention?
Because the pathophysiology is SPECTACULAR!!
Read on to explore.
#valuevignettes
2/
PNH is caused by an acquired (somatic) mutation in the PIGA gene (PhosphatidylInositol Glycan anchor biosynthesis, class A) in hematopoietic stem cells.
This gene is located on the X- chromosome.
Since it is ‘X-linked’, the incidence is?
PNH is caused by an acquired (somatic) mutation in the PIGA gene (PhosphatidylInositol Glycan anchor biosynthesis, class A) in hematopoietic stem cells.
This gene is located on the X- chromosome.
Since it is ‘X-linked’, the incidence is?
3/
Since one of the X chromosomes is physiologically inactivated in women in somatic cells early on (lyonization/ X-inactivation), all somatic cells have only 1 working copy of X.
‘1 hit’ on this active copy is enough to cause disease.
Risk of PNH is thus = in women and men.
Since one of the X chromosomes is physiologically inactivated in women in somatic cells early on (lyonization/ X-inactivation), all somatic cells have only 1 working copy of X.
‘1 hit’ on this active copy is enough to cause disease.
Risk of PNH is thus = in women and men.
1/
M protein ?!?
Ever ordered an SPEP and been uncertain whether to get a UPEP as well?
Should one obtain any other tests?
How does one interpret the results?
Read on for a quick journey evaluating M proteins.
#valuevignettes
M protein ?!?
Ever ordered an SPEP and been uncertain whether to get a UPEP as well?
Should one obtain any other tests?
How does one interpret the results?
Read on for a quick journey evaluating M proteins.
#valuevignettes
2/
SPEP is a screening test for monoclonal gammopathies+ related disorders.
Some indications include:
- Suspected plasma cell disorder (myeloma, amyloid)
- Unexplained
CRAB (Calcemia/ Renal disorder/ Anemia/ Bony lesions),
Neuropathy
- Bence Jones proteinuria
SPEP is a screening test for monoclonal gammopathies+ related disorders.
Some indications include:
- Suspected plasma cell disorder (myeloma, amyloid)
- Unexplained
CRAB (Calcemia/ Renal disorder/ Anemia/ Bony lesions),
Neuropathy
- Bence Jones proteinuria
3/
An SPEP separates serum proteins by their physical properties (charge, size) when electric current is applied.
A nice spread of ‘bands’ of different proteins/ classes forms.
Here is a ‘normal’ SPEP. Notice the different bands.
An SPEP separates serum proteins by their physical properties (charge, size) when electric current is applied.
A nice spread of ‘bands’ of different proteins/ classes forms.
Here is a ‘normal’ SPEP. Notice the different bands.
