Abnormal renal excretion, leading to low potassium.
Presents in early childhood with failure to thrive. Could also be constipation, muscle cramps and weakness (potassium needed for membrane potential, so these are all neuromuscular) and non-specific dizziness and fatigue.
Characteristic hypokalemic, hypochloremic metabolic alkalosis. High plasma renin activity and high aldosterone concentration seen.
Gitelman syndrome is similar, less severe (distal tubule, rather than ascending limb of loop of Henle) – less failure to thrive, in fact often asymptomatic detected incidentally. Might present with nocturia/polyuria.
Urinary calcium excretion distinguishes the two syndromes. Bartter’s waste calcium (more severe, after all), Gitelman retain.
Treatment is with supplementation.
Decompensation can be precipitated by diarrhoea or vomiting. Acute treatment can include potassium-sparing diuretics (spironolactone), cyclo-oxygenase inhibitors and renin-angiotensin blockers.
Proteins responsible for a minority of allergic reactions to peanut, hazelnut, sesame among others – hydrophobic, so tend not to be well represented in skin prick and IgE test solutions. May explain false negatives.
Specific IgE tests have been developed, but otherwise you just have to challenge.
Dutch study however didn’t find that specific testing for oleosins helped much.
FMR1 gene is on X chromosome, obviously, and is a trinucleotide repeat disorder (along with Friedrich’s ataxia, myotonic dystrophy, Huntington disease etc), so inheritance is interesting.
Dads can carry gene, but only pass it on to their daughters (who will all get it).
Mums will carry gene on 1 chromosome, so sons and daughters can both get it, but 50:50 chance.
As with other trinucleotide repeat disorders, gene expands with each generation, so risk of disease increases from 1 generation to the next, and this is somewhat predictable: intermediate gene (so 45-54 copies) won’t expand to cause disease (200+ copies) in 1 generation, but premutation gene (55-199) copies probably will.
Moderately severe learning disability
Facial features – long face, midface hypoplasia, large lips and jaw, small ears
WHO 2019 definition – occupational experience characterized by:
Exhaustion (feelings of energy depletion)
Cynicism – increased mental distance from one’s job, or feelings of negativism related to one’s job
Reduced professional efficacy
The MBI-Human Services Survey (MBI-HSS) was published, followed by other versions, including one for teachers and one for medical personnel (MBI-MP). Gives scores for each of the 3 fields. No cut offs, just a continuum, although higher scores across all 3 would clearly fit with the WHO definition.
Attempts have been made to use the tool to then define or screen for burnout. But WHO never called it a disease or disorder, but “a legitimate occupational experience”.
Better to talk about the actual feelings – Overextended, Ineffective, Disengaged – cf Engaged – high scores across all 3 fields.
Organizations should not use the MBI in isolation. Other tools exist such as Areas of Worklife Survey (AWS), which looks at workplace culture in terms of workload, control, reward, community, fairness, values.
Raanan Gillon campaigned successfully for fairness to be added to the World Medical Association’s International code of medical ethics (with respect to both patients and professionals).
It therefore joins beneficence, non-maleficence and respect for autonomy as one of the cardinal principles (Beauchamp and Childress).
What fairness means is debatable, however. And these different principles can conflict.
But it still has value as a way of analysing ethical problems. Hopefully in advance of the problem becoming real for someone.
Aristotle’s theory of justice or fairness is a good place to start – “equals should be treated equally” is straightforward, but it also includes “unequals should be treated unequally, in proportion to their inequalities). In other words, some people may need to be treated differently (“unequally”) because they need the treatment more.
First do no harm – parents tend to overestimate risk of anaphylaxis, whereas there are clear consequences to restricting the child’s ability to sit with other children at snack/meal times, or restricting the food choices of other children.
Probably better to increase allergy awareness (which varies widely) than rely on classroom or school-wide bans [Dave Stukus editorial]
George Raptis has shown how allergy training can improve allergy awareness, not just confidence in managing an allergic emergency.