Robert Klaber

Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism

Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.E26RfsX68). Analysis detected no CPE expression in whole blood-derived RNA from the proband, consistent with nonsense-mediated decay. The morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism seen in this individual recapitulates phenotypes in the previously described fat/fat and Cpe knockout mouse models, evidencing the importance of this peptide/hormone-processing enzyme in regulating body weight, metabolism, and brain and reproductive function in humans.

Low levels of knowledge on the assessment of underweight in children and adolescents among middle-grade doctors in England and Wales

Background Safe assessment of severe underweight in children is important but experience suggests a frequent lack of understanding. Here we sought evidence from a wide spectrum of trainees. Methods Cross-sectional telephone survey of an on-call middle-grade paediatric doctor in hospitals providing acute inpatient general paediatric care in England and Wales. Results Response rate was 100%. Only 50% identified BMI as the appropriate measure for underweight in children. Most did not identify any clinical cardiovascular complications of severe underweight. Only 13% identified corrected QT time (QTc) as an important ECG finding. Knowledge of the refeeding syndrome was poor with 20% unable to define it at all, 21% able to identify some clinical features and 57% aware of potential phosphate abnormalities. Conclusions Knowledge base among middle-grades doctors in England and Wales on this topic is worryingly poor, particularly in relation to several life-threatening features. Existing and new training approaches should recognise this.

Exploiting opportunities for leadership development of surgeons within the operating theatre

It is increasingly recognised that leadership skills are a key requirement in being successful in surgery, regardless of speciality and at all levels of experience and seniority. Where the emphasis was previously on technical ability, knowledge and diagnostic acumen, we now know that non-technical skills such as communication and leadership contribute significantly to patient safety, experience and outcomes, and should be valued. The operating theatre is a unique micro-environment which is often busier, noisier, more stressful and more physically demanding than the clinic or ward setting. As a result surgeons and their trainers, who are striving to develop leadership skills require an in-depth awareness of the challenges in this environment and the opportunities that arise from them to develop leadership effectively. This article outlines why leadership learning is so beneficial in the operating theatre, both for the team and the patient as well as what elements of daily routine activity such as the WHO checklist use, list-planning and audit can be exploited to transform the average busy operating theatre into a rich, learning environment for future leaders in surgery.

Child Health General Practice Hubs: a service evaluation

Objective To evaluate the impact of an integrated child health system. Design Mixed methods service evaluation. Setting and patients Children, young people and their families registered in Child Health General Practitioner (GP) Hubs where groups of GP practices come together to form ‘hubs’. Interventions Hospital paediatricians and GPs participating in joint clinics and multidisciplinary team (MDT) meetings in GP practices, a component of an ‘Inside-Out’ change known as ‘Connecting Care For Children (CC4C)’. Main outcome measures Cases seen in clinic or discussed at MDT meetings and their follow-up needs. Hospital Episode data: outpatient and inpatient activity and A&E attendance. Patient-reported experience measures and professionals’ feedback. Results In one hub, 39% of new patient hospital appointments were avoided altogether and a further 42% of appointments were shifted from hospital to GP practice. In addition, there was a 19% decrease in sub-specialty referrals, a 17% reduction in admissions and a 22% decrease in A&E attenders. Smaller hubs running at lower capacity in early stages of implementation had less impact on hospital activity. Patients preferred appointments at the GP practice, gained increased confidence in taking their child to the GP and all respondents said they would recommend the service to family and friends. Professionals valued the improvement in knowledge and learning and, most significantly, the development of trust and collaboration. Conclusions Child Health GP Hubs increase the connections between secondary and primary care, reduce secondary care usage and receive high patient satisfaction ratings while providing learning for professionals.

Whole population integrated child health: moving beyond pathways

Integrated care pathways have been used over the last 20 years to deliver health services for many different conditions.1 ,2 There is growing evidence that integrated care can positively impact on the quality of care;3 ,4 policy makers and commissioners are increasing the funding available for integrated approaches.5 Integration may take many different forms: vertical integration brings together elements of healthcare such as primary and secondary care services; horizontal integration brings together different agencies, for example, health and education and social care. It might also link services for physical and mental health. Childrens healthcare additionally benefits from longitudinal integration, which aims to smooth transition across the life course.6 Much recent debate has considered whether such connections need to be absolute, such as through the formation of joint ventures or takeovers; or whether they can be achieved virtually, through cooperative partnerships. On the whole, emphasis tends to remain on well-defined condition-specific pathways of integrated care and there are few initiatives concentrating on whole system integrative approaches.7–10 Wolfe et al s recent review gives a good analysis of these wider debates11 and there is a strong argument in favour of integrated care for children and young people to move beyond pathways and take a whole population ‘segmentation’ approach. There are a number of initiatives in the USA that have begun to use segmentation models to deliver high-quality, cost-effective care to populations of patients. The ‘Bridges to Health’ model12 was devised around 10 years ago to enable a rational customisation of healthcare around important and coherent segments of the population. It advocates an approach to stratifying risk in segments of the population and aims to go beyond the usual focus on diagnoses or provider types. The authors argue that ‘in a healthcare system designed around the …

Shape of Training: the right people with the right skills in the right place

A medical student entering medical school in 2014 will become a consultant sometime around 2027. The whole face of healthcare will have changed by then. The population is ageing, there are increasing numbers of people with multiple comorbidities and patients are increasingly demonstrating greater expectations of the quality of healthcare they receive. In addition, rapid technological and therapeutic advancement is counterbalanced by growing financial pressures. How we best adapt our workforce development and education strategies to be able to meet the future healthcare needs of the population is a huge challenge. The training of doctors has received a lot of public and professional attention in the last decade with a series of in-depth reviews of various aspects of medical training both in the UK and internationally.1 ,2 A common thread in each of these has been to highlight the lack of flexibility in medical training and the slow response of the profession to change. Where change has been introduced, problems with consultation, implementation and other process issues3 ,4 have led to a sense of suspicion, if not outright resistance to change, among some medical professionals. It is against this backdrop that the most recent review of medical training in the UK, the Shape of Training Review (SOT), chaired by Professor David Greenaway, was published in November 2013.5 The key messages for postgraduate medical education from this review are the following:

An introduction to quality improvement in paediatrics and child health

Quality improvement is a focus on changing the way in which patient care is delivered. Central to this is developing a more rounded, patient-focused approach to the design and delivery of care. Here, in the first of a series, we introduce the concepts of quality improvement, explain why quality improvement should matter to paediatricians and give some pointers as to where and how paediatricians can learn and do more.

Understanding healthcare processes: how marginal gains can improve quality and value for children and families.

Understanding how to identify and improve clinical pathways has proven a key tool in quality improvement. These techniques originated beyond healthcare, but are increasingly applied to healthcare. This paper outlines the history of the technique transfer and how to use in clinical practice.

Using an email advice line to connect care for children

There is a well recognised need to shift a significant proportion of hospital-based care to the community,1 and a corresponding increase in out-of-hospital specialist presence is needed to facilitate this.2 Potentially avoidable paediatric hospital referrals indicate the need for further support for primary care health professionals,3 especially given that many have limited formal paediatric training.4 Connecting Care for Children (http://www.cc4c.imperial.nhs.uk), an integrated child health programme, brings specialist expertise and support into primary care. One component of the service is ‘open access’, which includes an email advice line for community health professionals to contact paediatricians for advice and guidance on patients presenting to primary care. Email advice lines have been explored in other specialties, and in international rural paediatric settings.5 …

‘Coal miner's ankle’ in a child: bilateral malleolar bursitis

A systemically well 11-year-old girl presented with a long history of bilateral ankle swelling (figure 1). Palpation revealed soft, well circumscribed masses anterior to each of the lateral malleoli, accompanied by smaller swellings over the fifth metatarsal heads. Gait and range of movement were unaffected. Investigations were largely unremarkable, but ultrasound of the …