eLetters

118 e-Letters

  • CONGENITAL DISORDERS OF GLYCOSILATION IN THE DIFFERENTIAL DIAGNOSIS OF DISORDERS OF COPPER METABOLISM

    We read with interest the article by Jane Armer and Christian De Goede appearing in a recent issue of the Journal (1). We congratulate the Authors for their superb job in summarizing such a difficult field represented by the differential diagnosis of disorders of copper metabolism. However, we noticed that in their accurate recognition of the causes of reduced serum values of ceruloplasmin, the Authors missed to mention the Congenital Disorders of Glycosylation (CDGs), which are rare as single disorders but not as a group. CDGs in fact represent nowadays more than 100 distinct genetic multisystem disorders characterized by defective glycosylation of glycoconjugates.(2) We previously signaled that patients with some types of CDGs may have low ceruloplasmin values and abnormal copper metabolism. (3, 4) Presently we know that in at least 3 types of CDGs with prevalent hepatic presentation ± CNS minor signs (TMEM199-CDG, CCDC115-CDG; ATP6AP1-CDG) and 2 with prevalent neurological presentation ± minor signs of hepatic involvement (PMM2-CDG, COG2-CDG) there is a documented disturbance of copper metabolism (Table 1). The mechanisms underlying these abnormalities are unclear, and may probably depend on the biochemical nature of ceruloplasmin itself (a glycoprotein with 6 N-linked glycans) and/or involve at least partial loss of copper transporting proteins. (5) In conclusion, in addition to the group of rare conditions signaled by the Authors, we suggest that the diagnostic algor...

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  • Reply to: Psychological Interventions have a place in Management of Paediatric Headache

    Reply to: Psychological Interventions have a place in Management of Paediatric Headache
    Michael J Morton, Honorary Clinical Senior Lecturer in Child & Adolescent Psychiatry, University of Glasgow

    We are very grateful to Dr Morton for highlighting the importance of CBT and other psychological / talking therapies for children and young people with headaches, and for drawing our attention to the recent systematic review by Ng et al. Where resources exist and permit referral, this can be offered as an adjunct to acute / rescue treatment advice and as an alternative or adjunct to preventative drug therapies and acupuncture for migraine, and may be transformative for worrying tension-type headaches. Even for the trigeminal autonomic cephalalgias (including paroxysmal hemicranias) and idiopathic stabbing headache, CBT and psychological support for the child and young person and their family and carers can be really helpful. Where access to psychological interventions is difficult or inadequate, we should still request it and support the development of these crucial services. Thank you for this important contribution.

    William Whitehouse and Shakti Agrawal

  • Patient reported outcome measures as important tool for the non pharmacological management of preschool children with recurrent wheeze

    Preschool recurrent wheeze affects many children in the UK and causes great strain in their families (1). The pharmacological management during the acute episodes of wheeze offers significant relief. However, the evidence around the maintenance therapy is not conclusive.
    The majority of these children grow out of the condition. The current pharmacological treatment though has not been shown to change the natural course of the disease (2, 3). Therefore, it could be argued that addressing the actual concerns of their parents/carers should be the focus that makes a significant difference to their everyday lives.
    Defining personalised outcomes for preschool children with recurrent wheeze requires an understanding of what really matters for these families. A major step towards an efficient treatment would then involve reaching these outcomes and a measurement tool could monitor this.
    Asthma Action Plans for children with a diagnosis of asthma have been shown to reduce the rates of hospital admissions, emergency department visits and school absence rates (4). In Australia, the introduction of a personalised wheeze action plan shows the potential to reduce the treatment with corticosteroids and to improve the education of these families around acute management but this is not clear as to whether this is related to a decrease in emergency department admissions (5).
    Although education and management plans are an important part of the non-pharmacological mana...

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  • A response to Iniobong and Itoro Udo

    We thank Iniobong and Itoro Udo for their interest in our article and their comments. Issues of cost (in the broadest sense, financial, personal, service provision etc.) are of course important when we consider CPD. This is also more challenging in the current financial climate with likely pressure on study leave budgets. Other specific issues and costings they raise, however, concern a separate (although related) issue, the costs of postgraduate training to trainees. We specifically did not consider this group as they are excluded from the definitions of CPD we used. We have underlined the specific phrases from the GMC and the Academy of Medical Royal Colleges respectively;
    “any learning outside of undergraduate education or postgraduate training that helps you maintain and improve your performance. It covers the development of your knowledge, skills, attitudes and behaviours across all areas of your professional practice. It includes both formal and informal learning activities.”[1]
    “A continuing process, outside formal undergraduate and postgraduate training, that enables individual doctors to maintain and improve standards of medical practice through the development of knowledge, skills, attitudes and behaviour. CPD should also support specific changes in practice” [2]
    [1] Guidance on Continuing Professional Development. 2012; Available from: www.gmc-uk.org/education/co...

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  • Suggestions post review

    Dear Rachael,

    I am very impressed indeed with your sound advice for trainees.

    Senior trainees should spend more time in clinic.
    Access to Outpatient referral console for all tier 2 trainees.
    Suggest that senior trainees should manage all general paediatric referrals as we already do it as part of CAU referral form.
    Senior trainees should be able to suggest to GP’s any investigations that might make the first consultation a one stop shop.
    Admin sessions should not be eaten into because of service provision responsibilities for trainees.
    Telemedicine for more urgent referrals and to avoid falsification of referrals
    Every GP trainee to conduct at least one new patient clinic to understand paediatric OP dynamics and procedure.

    Kindest regards,

    Dr Sripriya Eachempati
    ST6 Paediatrics, NNUH

  • Pathologic calcification

    There are two types of pathologic calcification. They are metastatic and dystrophic. Dystrophic calcification is deposition of calcium phosphate in necrotic tissue. Calcium deposition is unrelated to serum calcium and phosphate levels, which are normal . Examples include periventricular calcification in congenital cytomegalovirus infection, calcified atherosclerotic plaques, etc. Metastatic calcification is deposition of calcium phosphate in the interstitium of normal tissues. This is due to increased serum levels of calcium and/or phosphate. Examples include primary hyperparathyrodisim (due to hypercalcemia) and chronic renal failure and primary hypoparathyroidism (due to hyperphosphatemia).
    In this epilogue, the subcutaneous calcifications are due to metastatic calcification rather than dystrophic calcification as there is no necrosis but serum calcium and phosphate levels are deranged.

  • Psychological Interventions have a place in Management of Paediatric Headache

    The management of headache should be imbued with a psychological understanding that is not sufficiently emphasised in the ADC review by Whitehouse & Agrawal. Like all pain disorders, headache has an important psychological component, which should be acknowledged as part of the assessment in order to open up a conversation that may lead to an effective non-pharmacological intervention. The recent review of treatments for paediatric migraine (Ng et al, 2017) confirms the power of one specific model of intervention in relation to one specific headache diagnosis. A creative use of mental health expertise in the Headache Clinic has the potential to change practice in relation to a range of presentations.

    A Systematic Review and Meta-analysis of the Efficacy of Cognitive Behavioral Therapy for the Management of Pediatric Migraine
    Qin Xiang Ng, MBBS; Nandini Venkatanarayanan, BMedSci, BMBS; Lakshmi Kumar, MBBS
    Headache, 2017;57(3):349-362.

  • What about the Cost of CPD?

    We studied the review by Macdougall et al with interest.1 In our comment, we have chosen to view continuous professional development in the later, “broader” terms described by Macdougall et al, as learning and development always incur costs.1

    In considering the culture of CPD, the influence of costs on professional development has been omitted. This is a rarely researched area but of growing importance in our opinion. A recent joint statement by the Association of Surgeons in Training and British Orthopaedic Trainees Association criticised an increase in training fees, stating that it was “extremely disappointed” at this action, directed solely at trainees.2 This is against the backdrop of evidence showing that cost of junior doctor training is astronomical, averaging £17, 114, most of which are footed privately by junior doctors.3, 4 Dentists have also identified costs as possible impediment to continuing development.5

    The context in the National Health Service is the continuing challenging health economic situation and declining resources in which to provide cover for practitioners’ time to study. The situation described above is more likely to be acute amongst trainees, part-time healthcare staff and doctors in non-substantive positions. This may be the reason why this issue has not gained prominence in the CPD discussions. The high cost of professional development may influence choice of personal development plans and the resulting learning activities un...

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  • Re: 'medically unexplained symptom' means that the doctor has a problem
    David Cottrell

    Dr Kraemer is correct in pointing out that the presence of a child mental health team integrated into the paediatric team in the hospital is, where resources allow, often the best way to manage children and young people with medically unexplained symptoms, and indeed with a range of other physical and psychological presentations. See also Cottrell, 2015, http://adc.bmj.com/content/100/4/308

    Conflict of Interest:...

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  • 'medically unexplained symptom' means that the doctor has a problem
    S KRAEMER

    Professor Cottrell's guidance for paediatricians confronted with patients whose symptoms cannot be explained minimises the real problem that arises when a mental health opinion may be required. He says "the use if words like 'psychological' is unhelpful and is associated with making things up" which is indeed the case. A very useful study by Furness et al (2009) interviewed hospital paediatricians and child health nurses...

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