Glucose 6 phosphate dehydrogenase deficiency. X-linked.
Can present with prolonged jaundice in babies. Otherwise with haemolysis (causing jaundice and anaemia).
Haemolysis triggered by infections, but also drugs and chemicals. Classically sulfonamides, but most relevant are:
Geographical risk areas –
Liminality in medicine is the idea that you can be between illness and wellness.
Paul Turner et al give the example of having a food allergy: people with allergies do not consider themselves fully ‘ill’ or entirely ‘well’, but something in between. They are typically “well” so long as they apply food safety skills to avoid their trigger food(s) – but a slip or mistake can lead to a reaction and potentially death from anaphylaxis.
With liminality, a young person feels set apart, or a family feels their child is different from others – this can impact on self image, social interaction, which in turn can lead to denial or other unhealthy coping strategies and adverse health outcomes.
[Sanders, Soc Sci Med 2019]Aerosol and droplet transmission are no longer in fashion – to be replaced by single term “air transmission”.
Similarly, no longer a list of defined “aerosol generating procedures” – flowchart to come that looks at whether coughing is induced and whether “high speed device” used.
[First letter from new Public Services Delivery body?!]
Non-disclosure of use of traditional, complementary and/or alternative medicine (TCAM) is found in 20 to 77% of studies. This has been attributed to an anticipated negative or dismissive response; assumption that health care professionals lack knowledge on the subject; or the HCP not asking.
HCPs who take the time to listen attentively and respectfully are more likely to have patients disclose TCAM use.
Some cultures/religions are more likely to use TCAM, and are also more likely to suffer from heath inequalities and stigma. If seen as ‘alternative’ and contrary to mainstream medicine, discussion might be perceived by both patient and doctor as irrelevant. If perceived within a more ‘integrative’ framework, it is more likely that TCAM use will be a topic for discussion. The transition from a “traditional-alternative” to a “traditional-integrative” approach to care is being promoted by the World Health Organization’s Traditional Medicine Strategy (2014–2023).
Tangkiatkumjai et al. suggested that TCAM use can be accompanied by an expectation of benefit; perception of safety; and dissatisfaction with conventional medicine. Perception of safety can of course be very misguided, eg interactions between herbal products and cancer drugs.
In oncology, integrative programs focus on quality of life-related concerns, eg chemotherapy-induced peripheral neuropathy, preoperative anxiety and postoperative pain. These programs have been shown to increase patient adherence to oncology treatment regimens, within a safe and effective environment.
Patient trust in their HCP has been shown to increase when asked directly about TCAM use.
Try the LEARN (Listen, Explain, Acknowledge, Recommend, and Negotiate) model, proposed by Berlin and Fowkes.
Non-judgmental approach essential – stereotypes, prejudices, and misconceptions may compromise the therapeutic relationship.
Other family/community voices that can be included?
“What are your goals of treatment with TCAM? Is your primarily goal to relieve your symptoms and improve your quality of life? Or is it to “fight” or cure the disease, prolong life, “strengthen” your immune system, or another goal?”
[Humility about failures/faults of conventional medicine!] [Ben-Arye, 2024]2020 interview study with GPs in the Midlands –
Giving letters to patients has benefits of a sense of patient inclusion, increased patient understanding, patient autonomy, enhanced communication transparency. The letter can act as a memory-aid (for example, medication). Paper-held summary may also act as a physical record of the admission for future encounters and communications, particularly if the patient sees a team who do not have access to the letter (for example, out-of-hours GP).
But if discharge letter is no longer simple summary, but exercise in patient education. GP then has to wade through a lot of excess information.
Letter to patient can alarm patients (especially if inaccuracies), language barriers and patient low literacy lead to health inequalities. GP may be asked to explain letters to patients. Ethics of cases where the diagnosis had not been disclosed, confidentiality breaching if the letter contains third-party information or if patient loses the letter. Patient can be upset by sensitive issues (eg, obesity).
Tips therefore include:
What GPs Actually Want:
Using AI safely, effectively and critically is a skill that all doctors need to develop!
Generative AI tools have a significant carbon footprint.
Doctors are expected to demonstrate their ability to be a reflective practitioner by developing both written and verbal reflection skills. AI should only be considered as a supplement to writing skills and not as a substitute.
While AI might help with creating an outline for reflection, using AI to create artificial patient encounters or to take a purely mechanistic ‘cut and paste’ approach to ePortfolio entries risks raising concerns surrounding probity.
Educational supervisors should explore reflective ePortfolio entries with their supervisee during supervision meetings and should routinely discuss reflection and encourage verbal reflection, an essential skill for trainees. [esp serious incidents].
Doctors in training should expect to have some of their ePortfolio entries explored by their educational supervisor and/or the ARCP panel.
Feedback and self-reflection in MSF should not be generated by AI.
Paul Turner’s 2024 review of food allergies and commercial flights –
66% of kids grow out cow’s milk allergy, even if they completely avoid it. But rate rises to nearly 90% if baked milk introduced. And less restrictive diet good for everyone, of course.
Salmivesi RCT from Finland 2012 – n=28, age 6-14. 81% using daily milk 6400mg protein at 12 months. First dose milk 0.06mg – 8 further observed doses (0.12mg day 8; 0.24mg day 15; 2.0mg day 36 [big jump!]; 4.0mg day 38 [2 days later!?]; 8.0mg day 42; 40mg [big jump again!] day 57; 80mg day 64; and 160mg on day 78) with other dose increases done at home. Monitored for 2hr in clinic. Final dose of 6400mg (=200ml) was given at home (!) on day 162.
Oral immunotherapy (OIT) for severe milk allergy (IgE >85 or low eliciting dose): at 1yr 36% tolerated 150ml, 54% 5-150ml (good enough for accidental exposure). 10% could not complete protocol. [reference?]
DRACMA update on milk immunotherapy (2021) mostly fresh milk used in research. Randomized trials looked at kids aged 2-14, mean 8. Non randomized had wider range. 67% tolerated 150ml (cf 2.2% of controls), 78% tolerated 5-150ml (=swig protection) (cf 3.3% of controls). Anaphylaxis rate of 5.5 per person-years (although not always defined, and not always usual definition). 63% used IM adrenaline!?
6.9% developed EOE but rarely biopsy confirmed. No deaths.
2–8 weeks after discontinuation of successful OIT, tolerance of cow’s milk persisted in only 36% (20%–91%). So you have to persevere life long, probably.
Quality of life badly reported – only 5 studies. 1 study found parents reported better QOL in 37%, worse in 26%, and unchanged in 38%! 2 conference abstracts reported improved QOL or at least reduced anxiety in general and reduced fear of unexpected reaction. Some studies found worse QOL! Certainty of evidence overall v low…
Only 1 trial and 2 non randomized studies of baked milk OIT! In the 1 RCT of baked milk, 73% achieved tolerance at 12 months (cf none of control group) – other studies did not find evidence of effectiveness however (meta-analysis of Anagnostou. Tolerance to heated or baked milk may be temporary and diminish within a few years. Dantzer. 20% required adrenaline! Only some children assessed for QOL, with evidence of benefit – of the parents studied, no improvement in QOL! [Dantzer and Dunlop 2021]. Low desensitization rate for unheated milk means persisting concern about exposure in real life despite less frequent adverse reactions (8%–33%).
Other studies did not find this relationship, which is consistent with the meta-analysis results of Anagnostou et al. (41). Tolerance to heated or baked milk may be temporary and diminish within a few years. Dantzer et al. found that a protocol involving gradually increasing doses of baked milk was effective in promoting desensitization (73% achieved end dose of 4000mg cf 0% of controls). Mean age 11. “This suggests that the initial dose [and then building] may influence the efficacy of desensitization.” [Yan Wang, China – Front. Immunol., 04 June 2025]
4% rate of biopsy proven EOE – note EoE typically emerges approximately 2.8 years after initiating the maintenance phase so many studies will miss…
Longer duration better. None of the studies reported on sustained unresponsiveness.
Only Dantzer study reported quality of life!
Highlights “a dire need for a standardization in outcome assessment and reporting,” and that successful completion of OFC needs to be validated as a predictor of “real world” success. [Natasha trial will hopefully clarify further…]
Separate article on OIT recommendations – apart from balancing risks and benefits, recommends using omalizumab (monoclonal anti-IgE) in advance and in initial stages of oral immunotherapy with unheated cow’s milk. Inferring from limited evidence (use in other food allergies, mostly) that risk of anaphylaxis reduced (RR0.34 but not significant!). Not really any downside? (But costs at least £256 per dose, maybe double? Lasts a month?). Plus, does not recommend baked milk OIT as very low certainty of benefit. More evidence on effect, risks, QOL benefit obviously required.
Sublingual/epicutaneous immunotherapy (SLIT) for milk? Not much evidence – low rate of success and high rate of relapse.
[EGPHAN 2023, Frontiers in Pediatrics 2019; BMJ cmpa article sept 2013]
Rush study from Japan used microwaved milk – microwaved for 100s at 550W (!). Dosing was 2–4 times a day in hospital for several days (frequent adverse events) aiming for 200 mL dose (total daily, I assume). If not achieved, dose increases changed to 1ml per day. At 200ml, dosing changed to once a day. After 2 months of maintenance, length of time in the microwave gradually reduced.
Another Japanese study looked at using heated milk powder (3 mins at 125degC) vs unheated milk. Rush protocol (5 days in hospital) up to maintenance of just 3ml daily. At 1 year, 35% and 18% in the HM group and 50% and 31% in UM group passed the 3 and 25 mL OFCs, respectively, so not great efficacy. Rates of moderate or severe symptoms significantly lower (halved) in the heated milk group however.
Natasha Trial is looking at Peanut or cow’s milk OIT in UK – groups are Peanut age 6-23yrs, Peanut age 2-3yrs, Cow’s milk age 3-23yrs. Using everyday food products. Final results expected 2027.
In small Korean study of kids aged 3-10, 83% has sustained unresponsiveness (stopped cow’s milk for 4 weeks, following 12 months of maintenance.
In a study of OIT plus omalizumab, about half had sustained unresponsiveness.
Duration of treatment appears to be key – in Japanese study, 2 years treatment had significantly more SU cf 1 yr treatment. Review here.
Used for epilepsy and migraine.
MHRA 2024 introduced pregnancy prevention programme, given risk of significant harm to unborn fetus (congenital malformation, low birth weight, potential increased risk of intellectual disability, autism/ADHD).
This stipulates that never used in pregnancy, but also not used in women of childbearing potential unless the conditions of the Pregnancy Prevention Programme are fulfilled, viz:
If used, women of childbearing potential must sign a Risk Awareness Form.
To make things more complicated, topiramate interacts with pretty much all oral contraceptives to decrease their effectiveness…
Autonomy is relational. A credible choice cannot be made without an appreciation of one’s situation and all the variables. That does not simply mean provision of information and options, because there is more going on in the consultation room, perhaps unexpressed: fear, shame, sadness, anger, doubt.
Time matters. Immediate impulse may not be how you ultimately decide if information shared in a paced, careful, caring, gentle way.
Don’t underestimate the power of written leaflets! Nothing compares to being able to explore in your own time, in your own home.
Being in touch with others who have navigated the same territory themselves is a uniquely therapeutic contribution when having to make choices in circumstances no one would choose.
Autonomy is not solely intellectual. To be vulnerable enough to express fears, to be confident enough to convey personal priorities, to be respected enough to have questions answered truthfully depends on trust in other human beings.
(Deborah Bowman)