Simultaneous Kidney and Parathyroid Transplantation in the Management of Genetic Hypoparathyroidism in a Child.

Background: Genetically determined hypoparathyroidism can lead to life-threatening episodes of hypocalcemia and, more rarely, to end-stage kidney disease at a young age. Parathyroid allotransplantation is the only curative treatment, and in patients already receiving immunosuppression for kidney transplantation, there may be little additional risk involved. We report the first such case in a child. Methods: An 11-y-old girl, known to have hypoparathyroidism secondary to an activating pathogenic variant in the calcium-sensing receptor, developed end-stage kidney disease and was started on intermittent hemodialysis. Since the age of 2.5 y, she had been receiving treatment with exogenous synthetic parathyroid hormone (PTH). In June 2019, at the age of 11.8 y, she received a living-donor kidney and simultaneous parathyroid gland transplant from her father. The kidney was implanted into the right iliac fossa, followed by implantation of the parathyroid gland into the exposed rectus muscle. Results: The kidney graft showed immediate function while the intrinsic serum PTH level remained low at 3 ng/L. Exogenous PTH infusion was reduced on day 6 posttransplantation to stimulate PTH production by the new gland, which resulted in improving intrinsic PTH concentrations of 28 ng/L by day 9. Twelve months after transplantation, PTH levels remain in normal range and the kidney graft function is stable with a serum creatinine of 110 µmol/L. Conclusions: Simultaneous living donation and transplantation of a kidney and a parathyroid gland into a child is safe and feasible and has the potential to cure primary hypoparathyroidism as well as kidney failure.

Gonadotrophin-independent Precocious Puberty Secondary to an Estrogen Secreting Adrenal Tumor.

BACKGROUND: Adrenal masses are rare in children and most commonly present with clinical features of virilization in the absence of activation of the pituitary axis-gonadotrophin-independent precocious puberty. OBSERVATIONS: We report an unusual case of a 7-year-old girl who presented with clinical signs suggestive of exposure to both androgens and estrogens. Imaging revealed a left-sided adrenal mass with no evidence of metastasis. She underwent successful laparoscopic unilateral adrenalectomy. Histology confirmed an adrenal adenoma. CONCLUSION: We conclude that adrenocortical tumors should be considered in children presenting with gonadotrophin-independent precocious puberty and raised estrogens.

Bridging the impactibility gap in population health management: a systematic review.

OBJECTIVES: Assess whether impactibility modelling is being used to refine risk stratification for preventive health interventions. DESIGN: Systematic review. SETTING: Primary and secondary healthcare populations. PAPERS: Articles published from 2010 to 2020 on the use or implementation of impactibility modelling in population health management, reported with the terms 'intervenability', 'amenability', and 'propensity to succeed' (PTS) and associated with the themes 'care sensitivity', 'characteristic responders', 'needs gap', 'case finding', 'patient selection' and 'risk stratification'. INTERVENTIONS: Qualitative synthesis to identify themes for approaches to impactibility modelling. RESULTS: Of 1244 records identified, 20 were eligible for inclusion. Identified themes were 'health conditions amenable to care' (n=6), 'PTS modelling' (n=8) and 'comparison or combination with clinical judgement' (n=6). For the theme 'health conditions amenable to care', changes in practice did not reduce admissions, particularly for ambulatory care sensitive conditions, and sometimes increased them, with implementation noted as a possible issue. For 'PTS modelling', high costs and needs did not necessarily equate to high impactibility and targeting a larger number of individuals with disorders associated with lower costs had more potential. PTS modelling seemed to improve accuracy in care planning, estimation of cost savings, engagement and/or care quality. The 'comparison or combination with clinical judgement' theme suggested that models can reach reasonable to good discriminatory power to detect impactable patients. For instance, a model used to identify patients appropriate for proactive multimorbid care management showed good concordance with physicians (c-statistic 0.75). Another model employing electronic health record scores reached 65% concordance with nurse and physician decisions when referring elderly hospitalised patients to a readmission prevention programme. However, healthcare professionals consider much wider information that might improve or impede the likelihood of treatment impact, suggesting that complementary use of models might be optimum. CONCLUSIONS: The efficiency and equity of targeted preventive care guided by risk stratification could be augmented and personalised by impactibility modelling.

The collection and reporting of measures of deprivation in musculoskeletal research: An international survey study.

BACKGROUND: The reporting of deprivation measures is typically poor in musculoskeletal (MSK) research. AIMS: To explore MSK researcher's perspectives on the deprivation indices and measures that are, or could be, collected and reported in their studies, and potential barriers and facilitators to collecting these data. MATERIALS & METHODS: An online international survey was undertaken to determine knowledge, use and reporting of deprivation indices and measures by MSK researchers and the factors which influence this. Data were analysed using descriptive statistics. RESULTS: 42 respondents from 16 countries completed the survey. The index of multiple deprivation was the most well-known measure (26%) although only 17% had reported data from this index. Most commonly reported markers of deprivation were: employment (60%), education (60%) and ethnicity (50%). Most common barriers to collecting these data included: uncertainty on perceived importance of deprivation measures (79%), what should be collected (71%), and concerns on missing data and sensitivities from participants reluctant to provide this information (33%). Consensus on necessary measures to be collected and reported (88%) and improved awareness of the relationship between deprivation and MSK health (79%) were considered key activities to improve deprivation recording in MSK research. DISCUSSION & CONCLUSION: There is poor awareness of the collection and reporting of deprivation measures in MSK research. Greater understanding on the importance of these data in reducing inequalities in MSK care is needed to facilitate improvement. This would enable greater assessment of generalisability and to assess whether interventions have different effects in people from different socio-economic groups.

Reasons for discontinuing oral anticoagulation therapy for atrial fibrillation: a systematic review.

INTRODUCTION: Atrial fibrillation (AF) is the most common cardiac arrhythmia and can lead to significant comorbidities and mortality. Persistence with oral anticoagulation (OAC) is crucial to prevent stroke but rates of discontinuation are high. This systematic review explored underlying reasons for OAC discontinuation. METHODS: A systematic review was undertaken to identify studies that reported factors influencing discontinuation of OAC in AF, in 11 databases, grey literature and backwards citations from eligible studies published between 2000 and 2019. Two reviewers independently screened titles, abstracts and papers against inclusion criteria and extracted data. Study quality was appraised using Gough's weight of evidence framework. Data were synthesised narratively. RESULTS: Of 6,619 sources identified, 10 full studies and 2 abstracts met the inclusion criteria. Overall, these provided moderate appropriateness to answer the review question. Four reported clinical registry data, six were retrospective reviews of patients' medical records and two studies reported interviews and surveys. Nine studies evaluated outcomes relating to dabigatran and/or warfarin and three included rivaroxaban (n = 3), apixaban (n = 3) and edoxaban (n = 1). Bleeding complications and gastrointestinal events were the most common factors associated with discontinuation, followed by frailty and risk of falling. Patients' perspectives were seldom specifically assessed. Influence of family carers in decisions regarding OAC discontinuation was not examined. CONCLUSION: The available evidence is derived from heterogeneous studies with few relevant data for the newer direct oral anticoagulants. Reasons underpinning decision-making to discontinue OAC from the perspective of patients, family carers and clinicians is poorly understood.

Clinical and budget impacts of changes in oral anticoagulation prescribing for atrial fibrillation.

OBJECTIVE: To assess temporal clinical and budget impacts of changes in atrial fibrillation (AF)-related prescribing in England. METHODS: Data on AF prevalence, AF-related stroke incidence and prescribing for all National Health Service general practices, hospitals and registered patients with hospitalised AF-related stroke in England were obtained from national databases. Stroke care costs were based on published data. We compared changes in oral anticoagulation prescribing (warfarin or direct oral anticoagulants (DOACs)), incidence of hospitalised AF-related stroke, and associated overall and per-patient costs in the periods January 2011-June 2014 and July 2014-December 2017. RESULTS: Between 2011-2014 and 2014-2017, recipients of oral anticoagulation for AF increased by 86.5% from 1 381 170 to 2 575 669. The number of patients prescribed warfarin grew by 16.1% from 1 313 544 to 1 525 674 and those taking DOACs by 1452.7% from 67 626 to 1 049 995. Prescribed items increased by 5.9% for warfarin (95% CI 2.9% to 8.9%) but by 2004.8% for DOACs (95% CI 1848.8% to 2160.7%). Oral anticoagulation prescription cost rose overall by 781.2%, from £87 313 310 to £769 444 028, (£733,466,204 with warfarin monitoring) and per patient by 50.7%, from £293 to £442, giving an incremental cost of £149. Nevertheless, as AF-related stroke incidence fell by 11.3% (95% CI -11.5% to -11.1%) from 86 467 in 2011-2014 to 76 730 in 2014-2017 with adjustment for AF prevalence, the overall per-patient cost reduced from £1129 to £840, giving an incremental per-patient saving of £289. CONCLUSIONS: Despite nearly one million additional DOAC prescriptions and substantial associated spending in the latter part of this study, the decline in AF-related stroke led to incremental savings at the national level.

Understanding pharmacogenomic testing and its role in medicine prescribing.

When making prescribing decisions, it is important for healthcare professionals to remember that individual patients may respond differently to medicines. For example, some patients may experience a therapeutic benefit while others may experience an adverse drug reaction. The aim of personalised medicine is to tailor treatment based not only on a patient's clinical factors, but also on their genetic profile. Pharmacogenomics is a branch of personalised medicine that is concerned with how differences in people's genomes affect their response to medicines. Pharmacogenomic testing, which recently has become less expensive and increasingly available, can inform nurses' prescribing decisions and improve patient outcomes. This article discusses personalised medicine and pharmacogenomics, including how pharmacogenomic testing can optimise medicine prescribing, and explains the role of nurses in the process.

Persistent inequalities in Hospice at Home provision.

OBJECTIVE: To describe the nature and scope of a new Hospice at Home (H@H) service and to identify its equality of provision. METHODS: Case note review of patients supported by a H@H service for 1 year from September 2012 to August 2013 (n=321). Descriptive analysis to report frequencies and proportions of quantitative data extracted from service logs, referral forms and care records; thematic analysis of qualitative data from care record free text. RESULTS: Demand outstripped supply. Twice as many night care episodes were requested (n=1237) as were provided (n=613). Inequalities in access to the service related to underlying diagnosis and socioeconomic status. 75% of patients using the service had cancer (221/293 with documented diagnosis). Of those who died at home in the areas surrounding the hospice, 53% (163/311) of people with cancer and 11% (49/431) of those without cancer received H@H support. People who received H@H care were often more affluent than the population average for the area within which they lived. Roles of the service identified included: care planning/implementation, specialist end-of-life care assessment and advice, 'holding' complex patients until hospice beds become available and clinical nursing care. CONCLUSION: There is significant unmet need and potentially large latent demand for the H@H service. People without cancer or of lower socioeconomic status are less likely to access the service. Action is needed to ensure greater and more equitable service provision in this and similar services nationally and internationally.

Role of nurses in supporting proactive deprescribing.

Deprescribing is the term used to describe the discontinuation of medicines. It can be either 'reactive', for example in response to an adverse event or therapeutic failure, or 'proactive', when the prescriber and patient decide to discontinue the medicine because its future benefits no longer outweigh its potential for harm. At present, there is a limited amount of proactive deprescribing activity in primary and secondary care. This article provides the rationale for increasing proactive deprescribing activity, lists the medicines this relates to, identifies the barriers and enablers to its implementation, and describes the potential role of the nurse in this process.

The experience of transitions in care in very old age: implications for general practice.

BACKGROUND: It can be challenging for general practitioners to support their oldest old patients through the complex process of relocation. OBJECTIVE: To provide a typology of the experiences of moving in very old age that is clinically useful for practitioners navigating very old people's relocation. METHODS: Qualitative analysis of data from a mixed-methods UK population-based longitudinal study, Cambridge City over-75s Cohort (CC75C), from Year 21 follow-up onwards. Interviews with participants aged ≥95 years old and proxy informants (Year 21: 44/48, 92%, subsequent attrition all deaths). Thematic analysis of qualitative data available from 26/32 participants who moved before they died. RESULTS: Individuals who moved voluntarily in with family experienced gratitude, and those who moved into sheltered house or care homes voluntarily had no regrets. One voluntary move into care was experienced with regret, loss and increased isolation as it severed life-long community ties. Regret and loss were key experiences for those making involuntary moves into care, but acceptance, relief and appreciation of increased company were also observed. The key experience of family members was trauma. Establishing connections with people or place ahead of moving, for example through previous respite care, eased moving. A checklist for practitioners based on the resulting typology of relocation is proposed. CONCLUSIONS: Most of the sample moved into residential care. This study highlights the importance of connections to locality, people and place along with good family relationships as the key facilitators of a healthy transition into care for the oldest old. The proposed checklist may have clinical utility.

When Frail Older People Relocate in Very Old Age, Who Makes the Decision?

BACKGROUND AND OBJECTIVES: Older people are likely to transition to a new home closer to family who can provide assistance or to long-term residential care as their health declines and their care needs increase. A minority choose to move to "age-friendly" housing before the onset of disability, but the majority prefer to "age in place" and defer moving until health crises compel a transition. Older people living with dementia are likely to move into residential care, but not much is known about the role they play in decision making around these moves. This qualitative study addresses this gap in knowledge by examining how a rare cohort of "older old" people, most with some level of cognitive impairment, were involved in decisions surrounding assistance seeking and moving to a care home. RESEARCH DESIGN AND METHODS: Thematic analysis of qualitative interview data from Cambridge City over-75s Cohort (CC75C) study participants aged 95 years and older, who had moved in later life, and their proxy informants (n = 26). RESULTS: Moves at such an old age were made due to a complexity of push and pull factors which had layered dynamics of decision making. In most cases (n = 22), decision making involved other people with varying degrees of decision ownership. Only four older people, who moved voluntarily, had full ownership of the decision to move. Many relatives reported being traumatized by events leading up to the move. DISCUSSION AND IMPLICATIONS: "Older old" people are sometimes unable to make their own decisions about moving due to the urgency of health crisis and cognitive decline. There is a need to support relatives to discuss moving and housing options at timely junctures before health crises intervene in an effort to optimize older people's participation in decision making.

Auditory hallucinations in a 15-year-old boy: an unusual presentation of hypothyroidism.

It is well recognised that thyroid disorders may present with a wide range of symptoms and signs in adults and children. We describe an unusual presentation of thyroid disease in an adolescent with psychiatric symptoms, in whom normalisation of his thyroid function resulted in significant improvement in his mental state. Although agitation and depression are commonly listed as symptoms of hyper- and hypothyroidism, respectively, presentation to psychiatric services is not well documented in the adolescent age group and thyroid function tests are not a routine inclusion as part of a paediatric psychiatric assessment.

Why do patients known to renal services still undergo urgent dialysis initiation? A cross-sectional survey.

BACKGROUND: Unplanned, urgent initiation of renal replacement therapy (RRT) is associated with poorer outcomes than planned initiation. However, in many services worldwide, substantial numbers of patients still do not begin treatment electively. The aim of this study was to identify numbers of and possible risk factors for, patients starting unplanned RRT despite being known to renal services for > or =4 months. METHODS: A retrospective survey of electronic and medical records was conducted of patients starting RRT in a large regional UK renal network in 2003. Data extracted included information on demographic, biochemical and treatment factors. Patients were classified as known acute (starting dialysis urgently yet known to renal services > or =4 months) or elective (starting RRT in a planned manner with a fistula or peritoneal dialysis catheter). Urgent dialysis was defined as starting either with a haemodialysis catheter or as an inpatient. Logistic regression was used to identify factors predicting an urgent dialysis start. RESULTS: Data from 109 of the 126 eligible patients were included; 60 elective, 49 known acute. Reasons for presenting as known acute were illness (21), service (24) and patient related (17). More than one reason was identified for 11 patients. The known acute group had more severe anaemia and lower glomerular filtration rates. Fewer known acute patients had attended dedicated predialysis clinics (90% increased odds of known acute start for non-attendance, P = 0.001) and patient dialysis information sessions (P = 0.020). Dialysis counselling had begun sooner in elective patients (P = 0.003). Odds of an urgent dialysis start increased by 4% with each year of age (P = 0.024). CONCLUSIONS: Early dialysis education and predialysis clinic attendance were associated with greater likelihood of elective dialysis initiation. Further studies are required to determine the cost effectiveness of these interventions, but services that initiate RRT urgently in a high proportion of patients should consider improving predialysis clinic attendance and early dialysis education.

Surgery in sickle cell disease.

Persons with sickle cell disease (SCD) are more likely to undergo surgery than are the general population during their lifetime. For example, cholecystectomy as a consequence of gallstones is more frequent in persons with SCD, as is hip arthroplasty in younger people as a result of avascular necrosis of the femoral head. Because surgery exposes patients to many of the factors that are known to precipitate red blood cell sickling, persons with SCD undergoing surgery require meticulous clinical care to prevent perioperative sickle cell-related complications. Even with meticulous care, approximately 25% to 30% of patients will have a postoperative complication. This article provides readers with information about the role of surgery in SCD and the measures that should be taken to ensure patients are well cared for in the perioperative period.

Preoperative transfusion in sickle cell disease: a survey of practice in England.

OBJECTIVES: To gather data on current preoperative transfusion practice and postoperative complications in sickle cell disease (SCD) as a prelude to a randomised trial. METHODS: A prospective one year survey of 114 SCD patients undergoing elective surgery in 31 English hospitals was undertaken. RESULTS: 43%, 39% and 23% of patients respectively [corrected] received no transfusion, top-up and exchange transfusion preoperatively. Overall postoperative complication rates were 18%, 26% and 17%, with SCD related complications of 12%, 8% and 0% respectively. 85% of patients with [corrected]HbSC/HbSss(+)thalassaemia and 71% of obstetric and gynaecology patients were not transfused preoperatively, whereas 59% patients undergoing ENT procedures and 83% of hip replacements had top-up and exchange transfusions respectively. Multivariable logistic regression analysis revealed that having moderate/high risk procedures was a predictor of postoperative complications (OR 4.9 (95% CL: 1.3 to 18), P = 0.017) [corrected] while preoperative transfusion was not (OR 1.7, (95% CL: [corrected] 0.5 to 6), P = 0.41). CONCLUSION: The lack of clear benefit of transfusion confirms the need for a randomised controlled trial of transfusion vs. no transfusion in patients with HbSS and HbSss(0)thalassaemia.