Erdheim-Chester Disease Presenting as Bilateral Facial Masses: A case report and review of literature

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with unknown etiology. It is recently recognized to be neoplastic with genetic mutations affecting the mitogen-activating protein kinase (MAPK) pathway. We here present a case of a 49-year-old female who initially presented in 2012 with bilateral facial masses to a tertiary care center. These were removed but later recurred over a period of ten years. She then presented with xanthelasmas, bone lesions, secondary infertility due to hypothalamic hypogonadism, diabetes insipidus, and Hashimoto’s hypothyroidism. The facial masses were biopsied, and they showed classic morphological features in the form of diffuse infiltration by foamy histiocytes, with scattered Touton type of giant cells, patchy lymphocytic infiltrates, and dense fibrosis. The presented ECD case is particularly interesting due to the recurrent bilateral facial masses.  To the best of our knowledge, this is the first documented case in Oman.  The patient is stable and is being followed up in the clinic. Keywords: Erdheim-Chester disease, Langerhans cell histiocytosis

Local Authority responses to people with NRPF during the pandemic: Interim project findings briefing

This interim briefing presents initial findings from a project exploring the support available to migrants with no recourse to public funds during the COVID-19 pandemic. The research included a survey of local authorities in England, and a call for evidence from migrant support organisations in England, Scotland and Wales. More than 90 percent of local authorities had not shared information about support for people with NRPF during the pandemic, and support organisations reported that service users had struggled to access food, shelter and subsistence support during the pandemic.Paul Hamlyn Foundatio

An inter-platform repeatability study investigating real-time amplification of plasmid DNA

BACKGROUND: The wide variety of real-time amplification platforms currently available has determined that standardisation of DNA measurements is a fundamental aspect involved in the comparability of results. Statistical analysis of the data arising from three different real-time platforms was conducted in order to assess inter-platform repeatability. On three consecutive days two PCR reaction mixes were used on each of the three amplification platforms – the LightCycler(®), ABI PRISM(® )7700 and Rotor Gene 3000™. Real-time PCR amplification using a fluorogenic 5' exonuclease assay was performed in triplicate on negative controls and DNA plasmid dilutions of 10(8)–10(2 )copies to give a total of 24 reactions per PCR experiment. RESULTS: The results of the statistical analyses indicated that the platform with the most precise repeatability was the ABI PRISM(® )7700 when coupled with the FastStart PCR reaction mix. It was also found that there was no obvious relationship between plasmid copy number and repeatability. An ANOVA approach identified the factors that significantly affected the results, in descending order of magnitude, as: plasmid copy number, platform, PCR reaction mix and day (on which the experiment was performed). CONCLUSION: In order to deliver useful, informative genetic tests, standardisation of real-time PCR detection platforms to provide repeatable, reliable results is warranted. In addition, a better understanding of inter-assay and intra-assay repeatability is required

Local authority responses to people with NRPF during the pandemic: research report

Paul Hamlyn Foundatio