Symptomatic scrotoliths in a child

Amelanotic/hypomelanotic variant of cellular blue naevus (CBN) can present a challenge for the clinician and histopathologist. We report a case of amelanotic/hypomelanotic variant of CBN that presented as a painless scrotal swelling in a child. We review the literature on amelanotic/hypomelanotic CBN, the key histological features and important differential diagnoses

Placental histology findings in relation to pre-eclampsia: implications for interpretation of retrospective studies

In this issue Khalil et al. report the findings of a systematic review of studies reporting placental histological features in relation to pre-eclampsia (PET).(1) The main findings of this study were first, that whilst certain histological patterns were more common in PET than controls, similar features were also noted in unaffected cases, and secondly, that the results were related to whether the histological features in the studies were assessed blindly, with significantly greater apparent differences between groups reported in unblinded studies

Plasma-cell-rich infiltrates in paediatric renal transplant biopsies are associated with increased risk of renal allograft failure

BACKGROUND: Increased plasma cell infiltration in renal allograft biopsies is a rare finding associated with poor outcome in adult renal transplant recipients. The clinical impact of increased plasma cell infiltrates in paediatric renal transplant recipients (pRTR) remains unknown. METHODS: We conducted a retrospective case-control study from April 1996 to March 2014 comparing the outcome of pRTR with increased (>10 % of infiltrate) plasma cells in renal transplant biopsies to a control cohort of pRTR without increased plasma cell infiltration but similar grade of rejection according to Banff classification. RESULTS: Increased plasma cell infiltrates were present in 14 of 162 (9 %) reviewed pRTR aged 3.2-17.5 (median 13.4) years at time of transplantation. Compared with 14 pRTR renal transplant biopsies without significantly increased plasma cells, there were no significant differences in mismatch and baseline estimated glomerular filtration rate (eGFR). Plasma cells were present in case biopsies at a maximal density of 14-116 (median 33) plasma cells/HPF. Increased plasma cells were associated with decreased eGFR at biopsy (22 vs. 49 ml/min/1.73 m(2); p < 0.001) and 4 weeks post-biopsy (26 vs. 56 ml/min/1.73 m(2); p < 0.001) despite comparable eGFR 4 weeks prior to biopsy. Increased plasma cells were further associated with significantly increased frequency of renal allograft loss (71 % vs. 7 %; p < 0.001) at 0-27 (median 2) months after biopsy. CONCLUSION: Increased plasma cell infiltrates in pRTR are uncommon but associated with significantly reduced renal allograft survival as well as significantly reduced allograft function in surviving grafts

When is biopsy-proven TIN not simply TIN? Answers

This article refers to the article that can be found at doi: 10.1007/s00467-016-3465-7

Granulomatosis with polyangiitis mimicking infective endocarditis in an adolescent male

Granulomatosis with polyangiitis (GPA) is a rare but serious small vessel vasculitis with heterogeneous clinical presentation ranging from mainly localised disease with a chronic course, to a florid, acute small vessel vasculitic form characterised by severe pulmonary haemorrhage and/or rapidly progressive vasculitis or other severe systemic vasculitic manifestations. Cardiac involvement is, however, uncommon in the paediatric population. We report a case of a 16-year-old male who presented with peripheral gangrene and vegetation with unusual location on the supporting apparatus of the tricuspid valve, initially considered to have infective endocarditis but ultimately diagnosed with GPA. We provide an overview of the limited literature relating to cardiac involvement in GPA, and the diagnostic challenge relating to infective endocarditis in this context, especially focusing on the interpretation of the antineutrophil cytoplasmic antibody (ANCA) and the characteristic clinical features to identify in order to promptly recognise GPA, since timely diagnosis and treatment are essential for this potentially life-threatening condition

Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report

Background: Mevalonate kinase deficiency (MKD) is a rare autoinflammatory condition caused by biallelic loss-of-function (LOF) mutations in mevalonate kinase (MVK) gene encoding the enzyme mevalonate kinase. Patients with MKD display a variety of non-specific clinical manifestations, which can lead to diagnostic delay. We report the case of a child presenting with vasculitis that was found by genetic testing to be caused by MKD, and now add this autoinflammatory disease to the ever-expanding list of causes of monogenic vasculitides. Case presentation: A 2-year-old male presented with an acute 7-day history of high-grade fever, abdominal pain, diarrhoea, rectal bleeding and extensive purpuric and necrotic lesions, predominantly affecting the lower limbs. He had been suffering from recurrent episodes of fever from early in infancy, associated with maculopapular/petechial rashes triggered by intercurrent infection, and after vaccines. Extensive infection screen was negative. Skin biopsy revealed small vessel vasculitis. Visceral digital subtraction arteriography was normal. With a diagnosis of severe idiopathic cutaneous vasculitis, he was treated with corticosteroids and mycophenolate mofetil. Despite that his acute phase reactants remained elevated, fever persisted and the vasculitic lesions progressed. Next-generation sequencing revealed compound heterozygous mutation in MVK c.928G > A (p.V310M) and c.1129G > A (p.V377I) while reduced mevalonate enzyme activity was confirmed suggesting a diagnosis of MKD as a cause of the severe vasculitis. Prompt targeted treatment with IL-1 blockade was initiated preventing escalation to more toxic vasculitis therapies and reducing unnecessary exposure to cytotoxic treatment. Conclusions: Our report highlights the broad clinical phenotype of MKD that includes severe cutaneous vasculitis and emphasizes the need to consider early genetic screening for young children presenting with vasculitis to exclude a monogenic vasculitis which may be amenable to targeted treatment

Health professionals’ and coroners’ views on less invasive perinatal and paediatric autopsy: a qualitative study

OBJECTIVE: To assess health professionals’ and coroners’ attitudes towards non-minimally and minimally invasive autopsy in the perinatal and paediatric setting. METHODS: A qualitative study using semistructured interviews. Data were analysed thematically. RESULTS: Twenty-five health professionals (including perinatal/paediatric pathologists and anatomical pathology technologists, obstetricians, fetal medicine consultants and bereavement midwives, intensive care consultants and family liaison nurses, a consultant neonatologist and a paediatric radiologist) and four coroners participated. Participants viewed less invasive methods of autopsy as a positive development in prenatal and paediatric care that could increase autopsy rates. Several procedural and psychological benefits were highlighted including improved diagnostic accuracy in some circumstances, potential for faster turnaround times, parental familiarity with imaging and laparoscopic approaches, and benefits to parents and faith groups who object to invasive approaches. Concerns around the limitations of the technology such not reaching the same levels of certainty as full autopsy, unsuitability of imaging in certain circumstances, the potential for missing a diagnosis (or misdiagnosis) and de-skilling the workforce were identified. Finally, a number of implementation issues were raised including skills and training requirements for pathologists and radiologists, access to scanning equipment, required computational infrastructure, need for a multidisciplinary approach to interpret results, cost implications, equity of access and acceptance from health professionals and hospital managers. CONCLUSION: Health professionals and coroners viewed less invasive autopsy as a positive development in perinatal and paediatric care. However, to inform implementation a detailed health economic analysis and further exploration of parental views, particularly in different religious groups, are required

It's Good to Talk: A Comparison of Using Voice Versus Screen-Based Interactions for Agent-Assisted Tasks

Voice assistants have become hugely popular in the home as domestic and entertainment devices. Recently, there has been a move towards developing them for work settings. For example, Alexa for Business and IBM Watson for Business were designed to improve productivity, by assisting with various tasks, such as scheduling meetings and taking minutes. However, this kind of assistance is largely limited to planning and managing user's work. How might they be developed to do more by way of empowering people at work? Our research is concerned with achieving this by developing an agent with the role of a facilitator that assists users during an ongoing task. Specifically, we were interested in whether the modality in which the agent interacts with users makes a difference: How does a voice versus screen-based agent interaction affect user behavior? We hypothesized that voice would be more immediate and emotive, resulting in more fluid conversations and interactions. Here, we describe a user study that compared the benefits of using voice versus screen-based interactions when interacting with a system incorporating an agent, involving pairs of participants doing an exploratory data analysis task that required them to make sense of a series of data visualizations. The findings from the study show marked differences between the two conditions, with voice resulting in more turn-taking in discussions, questions asked, more interactions with the system and a tendency towards more immediate, faster-paced discussions following agent prompts. We discuss the possible reasons for why talking and being prompted by a voice assistant may be preferable and more effective at mediating human-human conversations and we translate some of the key insights of this research into design implications

HoloLens for medical imaging using post-mortem fetal micro-CT data

AIM AND OBJECTIVES: Demonstrate applicability of HoloLens technology for viewing post-mortem fetal micro-CT imaging data. Develop a pipeline focusing on the required editing of 3D segmentations for rendering in virtual reality (VR), file format and storage needs for medical holographic applications and the necessary functionality of a holographic application interface