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Cobalamin related metabolic disorders

General paediatrics, Genetics, Haem/Oncology, Neurology, Renal

Amino acid homocysteine is converted to methionine (“remethylated”) – cobalamin is involved in some of these processes, folate metabolism also important.

Various disorders.

Variety of presentations, at different ages:

  • Neurological (central and peripheral)
    • Feeding difficulties, apnoea in babies
    • Seizures
    • Subacute combined degeneration of spinal cord (peripheral neuropathy, ataxia, incontinence)
    • Acute and/or chronic encephalopathy – hypotonia, regression
    • Neuropsychiatric problems
  • vascular problems (stroke/embolism)
  • bone marrow (megaloblastic anaemia, cytopenia) – folate related
  • Atypical HUS
  • Glomerulopathy

Investigations

  • High homocysteine, usually
  • Vitamin B12 and folate, for differential
  • Methylmalonic acid (in urine)
  • Acylcarnitine
  • Methionine (usually goes low)

Treatment

Start intramuscular B12 (hydroxocobalamin) as soon as samples collected, to prevent end organ damage.

Betaine should be started if high homocysteine with low methionine found, helps push conversion to methionine.

Homocystinuria

Autosomal recessive condition of high homocysteine in blood and urine, causing similar neurological problems, thrombosis, Marfanoid appearance, downward subluxing lenses.

Needs low methionine diet. Betaine supplements help.

Clinical teaching techniques

Generic, Teaching and training

Teachers generally believe they give regular and sufficient feedback, but this is often not how it is perceived by learners!

Set expectations – that most learning happens during daily patient care as part of the team. That teachers expect and welcome feedback themselves, and that feedback is normal everyday component of teacher-student relationship – else can generate defensiveness.

Feedback is a conversation about performance, rather than a 1 way lecture.

Modelling – think aloud, to externalize reasoning (in short spells!)

1-2 minutes direct observation.  Feedback perhaps after a number of episodes – one thing done well, one thing that could be done differently? Beware a list of demoralising fails. Avoid using the word “but” between the two, which seems to diminish the positive praise.

Balance feedback by asking for student’s own perceptions of their performance, and their ideas for improvement.

Send student ahead (“scouting“).

Self- explanation – without any instructions, student finds own explanations for results, obs, management plan etc.

SNAPPS – summarize case, narrow differential, analyse differential, probe [ask questions] where uncertain, plan, select an issue related to case for self directed learning.  1-2 mins only.

Tell me story backwards – Diagnosis, then supporting evidence, then why other diagnoses excluded.  Only then plan.

Contrastive example – ask student to give alternative diagnosis and balance probabilities.

Post it Pearls – record thoughts (not just pearls!) during clinic/ward round, review at end.

Diagnostic challenge – one person/team defends working diagnosis. Other asks about worse case scenario, or alternative diagnosis, investigations done or not done, and checks with patient themselves!

[Operation Colleague, from University of Glasgow; HPE Bytes]

GIRFEC

Community, Ethics, General paediatrics

Getting it right for every child. A framework for dealing with children and young people, looking at a range of values (SHANARRI).

Children and Young People (Scotland) Act 2014 made provision for Named Person and Child’s plan, but after review in 2019, amid privacy concerns (brought by Christian Institute, among others), government decided not to pursue legislation. Supreme court found that “duty to share information”, although well intentioned, was potentially at odds with article 8 of European convention on Human rights (“Privacy and family life”).

[https://www.gov.scot/publications/getting-right-child-practice-development-panel-report/]

Diet and mental health

General paediatrics, Mental health, Nutrition

Longitudinal research shows association between progressively higher glycaemic index diet and incidence of depressive symptoms. Experimental exposure to diets with high glycaemic load increases depressive symptoms in healthy volunteers, with moderately large effect.

Mechanism could be repeated and rapid changes in blood glucose, triggering counter regulatory hormones such as cortisol, adrenaline, growth hormone, glucagon.

Appears to be an inflammatory response to high glycaemic index foods too. Adherence to Mediterranean diet reduces markers. Mood disorders have been linked to heightened inflammation, although only in a minority. Observational studies show people with depression score higher for “dietary inflammation” viz trans fats, refined carbohydrates, lower intake of omega 3 fats. Mediated through polyphenols, polyunsaturated fatty acids?

Diet also affects microbiome, which interacts with the brain in bidirectional ways using neural, inflammatory and hormonal signalling pathways. High fibre, polyphenol, unsaturated fats promotes microbial taxa that generate anti-inflammatory metabolites such as short chain fatty acids.

Study of probiotics in healthy volunteers found altered response to a task that requires emotional attention, and may even reduce symptoms of depression.

But no benefit in large trial of Medierranean diet with subclinical depressive symptoms, only small trials of current depression showed benefit. Note context of people’s expectations regarding food/diet, which will likely have a marked effect on wellbeing.

Danger too of stigmatisation if trying to change an individual’s dietary choices.

[Joseph Firth, BMJ 2020;369:m2382]]

Remote consultations – use of images

Ethics

Clinical images are part of the medical record. Especially when they are being used to make clinical judgments, they should be retained, which means discussing transfer, storage and use of images.

Transfer – not subject to information governance and data protection rules until received! Whatsapp automatically uses end to end encryption.

Storage – needs to be deleted from your phone/device. NB Whatsapp has option to automatically save to phone. Arrange storage with NHS approved service, or else ask family to retain.

Use – needs specific consent to reproduce in any form, for specified purpose.

Document verbal consent.

If patients are unsure of sharing images, you could try sending illustrative images of the suspected condition.

Remote consultations

Clinical governance, Communication, Generic

Schedule time, rather than fit in between jobs.

Confidentiality: where you are, where they are! “Are you somewhere private?”

Consent before you proceed. “Are you happy for us to talk just now?” “Can you hear me clearly?”

Contemporaneous notes.  Explain why there may be typing noises during conversation.

Beware if not your usual patient, and long term medication/condition.  Consult with GP or other appropriate professionals.

Prob not appropriate where Safeguarding issues or doubt about mental capacity of adults.

“You may need to justify a decision to consult remotely” – not for your convenience!!!

If speaking with a child, use speaker so parents can hear.

Since you can’t see cues and can’t nod in agreement, good to check understanding and summarise what has been said to you.

Say when you will phone back if you need to discuss with someone else.

Easy to become over focussed on one particular issue and forget to assess more fully.

If becomes emotional, respond by showing you have noticed “It sounds as though you are worried/angry/frustrated about…”.  Apologise if becomes hostile.  Focus on what you can do rather than what you can’t do.  Avoid pre-empting what someone is going to say.

If parents not reassured, or your assessment of the seriousness of the condition differs from theirs, err on the side of caution and arrange a face to face consultation.

For long term conditions, it may be helpful for family to have a list of concerns before hand.

When ordering tests, discuss how these will be fed back – consider whether likely to need face to face follow up to discuss results and treatment options.

Wait until the other party has hung up.

See also Remote consultations – use of images.

Audit

Clinical governance, Generic

Process of collecting data against a set of standards, in an attempt to improve compliance with those standards. But often ineffective – especially when no changes made (“closing audit loop”) to improve performance. And slow – by the time you’ve collected the data and summarized it, you’ve wasted time that could be been used to improve things you’ve already seen going wrong.

Often just turns into criticism, with intervention being no more than “perform better”. And then just induces resistance.

Cochrane review of audits in general found median 4.3% improvement with compliance, which isn’t much, but potentially more with incremental gains and repeated audit. And potentially scalable. And about a quarter achieve nothing.

Audit chain only as strong as weakest link – awareness of standards, reliability of processes, feedback.  All aspects of programmed should be designed with a focus on desired change in behaviour, and barriers should be anticipated.

Checklist for doing audit well –

  • Can you recommend actions consistent with established goals and priorities
  • Actions that are under audience’s control?
  • Actions that are specific
  • Can you provide multiple data points as feedback ASAP – and as often as frequency allows
  • Individual as well as general feedback if possible
  • Can you provide comparators that reinforce desired behaviour change
  • Format of feedback – link visuals with summary message, multiple methods, minimize distractions.
  • Actionable plan along with feedback
  • Address barriers
  • Short, actionable message with optional detail
  • Realistic goals.
  • Address credibility. 
  • Anticipate defensive reactions
  • Construct feedback through social interaction

Feedback to clinicians, who all think they’re great, requires careful thought.  Trying to improve already high performance may be a waste of effort, there is a ceiling for most things where organisation close to max capacity.

Patients and the public often surprised by the extent of variation.  They express frustration at difficulties in routinely measuring less technical aspects of care, such as consultation skills and patient centredness.  Patients are an untapped force for change which audit could learn to harness.

[ Revitalising audit, BMJ 2020;368:m213]

Mesial temporal sclerosis

General paediatrics, Neurology

= scarring in hippocampal area of temporal lobe. Commonly found on MRI in focal epilepsy (although focal EEG changes not always indicative of MRI abnormality, and other MRI lesions can account for temporal lobe epilepsy).

Often a history of febrile convulsions but unclear which comes first. Brain injury in early years from viral encephalitis or other cause often explains it.

Adjacent to language areas (assuming same side as language areas, which are usually on the left side in people who are right handed, but can be either side in people who are left handed) so seizures may affect speech. Also close to memory area so may not remember afterwards.

In people with drug resistant temporal lobe epilepsy, surgery can be useful.

COVID19 treatment

General paediatrics, Infectious disease, Rheumatology

Death from COVID19 usually from cytokine storm and multi-organ failure (often resulting in secondary haemophagocytic lymphohistiocytosis).

NICE has risk factors for young people 12-16yrs:

  • Complex life limiting neurodisability

Otherwise you need 2 of the following to justify treatment in ill (hospitalised) patient:

  • Primary immunodeficiency:
  • Secondary immunodeficiency viz:
    • HIV with CD4 count less than 200 cells per mm3
    • solid organ transplant
    • stem cell transplant (HSCT) within 12 months, or with graft versus host disease (GVHD)
    • CAR-T cell therapy in last 24 months
    • induction chemotherapy for ALL etc
  • Immunosuppressive treatment:
    • chemotherapy within the last 3 months
    • cyclophosphamide within the last 3 months
    • corticosteroids greater than 2 mg per kg per day for 28 days in last 4 weeks
    • B-cell depleting treatment in the last 12 months
  • Other conditions:
    • high body mass index (BMI; greater than 95th centile)
    • severe respiratory disease (for example, cystic fibrosis or bronchiectasis with FEV1 less than 60%)
    • tracheostomy or long-term ventilation
    • severe asthma (paediatric intensive care unit [PICU] admission in 12 months)
    • neurodisability and/or neurodevelopmental disorders
    • severe cardiac/chronic kidney/liver disease
    • sickle cell disease or other severe haemoglobinopathy
    • trisomy 21
    • complex or chromosomal genetic or metabolic conditions associated with significant comorbidity, multiple congenital anomalies associated with significant comorbidity
    • bronchopulmonary dysplasia – decisions should be made taking into account degree of prematurity at birth and chronological age
    • infants less than 1 year with cyanotic CHD, or haemodynamically significant acyanotic CHD with history of prematurity, or those due for corrective surgery (to avoid complications or delay)

Steroids

WHO recommends dexamethasone 150mcg/kg once daily for 10 days for severe/critical COVID19 disease, on basis of REACT metanalysis.

Severe defined as any of:

  • Sats <90%
  • Tachypnoea (>30 in over 5s, >40 over 2 etc)
  • Severe respiratory distress

Critical defined as ARDS, septic shock or anything else that would require critical care.

Remdesivir

For Patients at ‘high risk’ of complications (as above, in particular immunocompromise) plus:

  • >4 weeks of age and at least 3kg 
  • Within 10 days of symptoms onset

NOT for patients requiring ventilatory support unless high risk, and not for ALT > 5x upper limit of normal .

5mg/kg loading dose on day 1, followed by 2.5mg/kg once a day for 4 days. May be extended to 10 days in immunocompromised.

Toculizimab is an option for pneumonitis.

Prophylaxis for high risk patients is available:

  • Remdesivir 3 days once daily infusions
  • Paxlovid (Nirmatrelvir +Ritonavir) 300/150mg BD for 5 days

Neutralising antibodies have also been tried but not in guidance.

Sotrovimab [NO LONGER AVAILABLE] – for 12-16yrs, pre-hospitalisation, PCR positive and onset of symptoms within previous 5 days. Not if new oxygen requirement or weight under 40kg. 1% vs 7% placebo hospitalisation or death (85% reduction).