Juvenile Dermatomyositis: what comes next? Long-term outcomes in childhood myositis from a patient perspective.

Background: To describe long-term outcomes in JDM using patient questionnaires and link to longitudinal, prospectively collected data for each patient within the Juvenile Dermatomyositis Cohort and Biomarker Study, UK and Ireland (JDCBS) to determine outcome predictors.  METHODS: JDCBS participants aged ≥ 16y completed the SF36, HAQ and a questionnaire regarding current disease features, medications, education and employment. Data collected from the JDCBS included disease subtype, demographics, clinical and laboratory features.

Experiences of living with juvenile idiopathic arthritis: a qualitative systematic review.

Objective: The objective of this review was to investigate the available qualitative evidence to enhance understanding of the experiences of children and young adults living with juvenile idiopathic arthritis, and their carers, in any setting.

Introduction: Juvenile idiopathic arthritis is the most common chronic rheumatic disease in childhood. Despite the availability of effective treatments, persistent pain, growth retardation, physical disability, and psychological problems can occur.

Experiences of living with juvenile idiopathic arthritis: a qualitative systematic review protocol.

Objective: The objective of this review is to identify, critically appraise and synthesize the available qualitative evidence to understand the experiences of children, young adults and their carers living with juvenile idiopathic arthritis in any setting.

Introduction: Juvenile idiopathic arthritis is the most common rheumatic disease in childhood. Despite the availability of effective treatments, the disease still has negative impacts on patients' and carers' lives.

Defective Protein Prenylation in a Spectrum of Patients With Mevalonate Kinase Deficiency.

The rare autoinflammatory disease mevalonate kinase deficiency (MKD, which includes HIDS and mevalonic aciduria) is caused by recessive, pathogenic variants in the gene encoding mevalonate kinase. Deficiency of this enzyme decreases the synthesis of isoprenoid lipids and thus prevents the normal post-translational prenylation of small GTPase proteins, which then accumulate in their unprenylated form. We recently optimized a sensitive assay capable of detecting unprenylated Rab GTPase proteins in peripheral blood mononuclear cells (PBMCs) and showed that this assay distinguished MKD from other autoinflammatory diseases.

The frequency of molecular detection of virulence genes encoding cytolysin A, high-pathogenicity island and cytolethal distending toxin of Escherichia coli in cases of sudden infant death syndrome does not differ from that in other infant deaths and healthy infants.

Consistent pathological findings in sudden infant death syndrome (SIDS) are seen which display similarities to the pathogenesis of toxaemic shock and/or sepsis. A key candidate infectious agent that is possibly involved is Escherichia coli, given its universal early colonization of the intestinal tract of infants and an increased frequency of toxigenic and mouse-lethal isolates from SIDS compared with comparison infants. An explanation for these findings has yet to be identified.

Sterile site infection at autopsy in sudden unexpected deaths in infancy.

Objective: To examine and compare bacteriological findings at autopsy of cases of sudden unexpected infant death and those of deaths from other cause.

Design: Autopsy report review of 130 sudden infant death syndrome (SIDS) cases (2004 definition), 32 cases of sudden unexpected death in infancy (SUDI) due to infection and 33 cases of non-infectious sudden deaths.

Setting: Qualitative assessment of normally sterile site (NSS; heart blood, spleen or cerebrospinal fluid) bacteriology in SIDS and age-matched comparison deaths that occurred in the late 1980s and early 1990s.