Development of EBV Related Diffuse Large B-cell Lymphoma in Deficiency of Adenosine Deaminase 2 with Uncontrolled EBV Infection.

Deficiency of Adenosine Deaminase 2 (DADA2) patients presenting with primary immunodeficiency are at risk of uncontrolled EBV infection and secondary malignancies including EBV-related lymphoproliferative disorders (LPD). This paper describes the first case of EBV related diffuse large B-cell lymphoma in a patient with DADA2 and uncontrolled EBV infection. Consideration should be given to monitoring for EBV viraemia and to preventative EBV specific therapy in DADA2 and patients with at risk primary immunodeficiencies. A type I interferon (IFN) gene signature is associated with DADA2 though its association with immune dysregulation is unclear.

Mental health problems associated with idiopathic anaphylaxis.

BACKGROUND: Idiopathic Anaphylaxis (IA) is the most common anaphylactic syndrome in adults. Mental health problems associated with IA are not well recognised. We aimed to assess if patients diagnosed with IA were more likely to experience mental health problems compared to a normative Australian population. We additionally hypothesised that the number of anaphylactic episodes would correlate with symptoms of anxiety. METHODS: A total of 34 patients with at least one episode of IA were recruited from an adult immunology clinic. Patients were recruited as part of a separate study evaluating alternative aetiologies in IA. Mental health problems were measured using the Depression, Anxiety and Stress Scale (DASS-21). An extension of the survey included questions specifically focused on the psychological impact of IA. RESULTS: Compared to population norms, those with IA had significantly higher levels of mental health problems. Statistically significant DASS-21 scores were identified for depression 4.24 vs. 2.57 (p < 0.001), anxiety 4.76 vs. 1.74 (p < 0.012), stress 7.35 vs. 3.95 (p < 0.001) and total score 16.35 vs. 8.00 (p < 0.001). There was no association between two or more episodes of anaphylaxis and increased anxiety levels (ß = 0.52, CI -2.59-3.62, p = 0.74). CONCLUSIONS: This is the first paper to demonstrate that patients living with idiopathic anaphylaxis are more symptomatic for mental illness than those in the community. Screening for mental illness and referral for psychological support should be undertaken in people with IA.

Hepatic predominant presentation of Kawasaki disease in adolescence case report and review of literature.

BACKGROUND: Kawasaki Disease (KD) is the most common paediatric vasculitis affecting small to medium arteries. Although the average age of diagnosis is 3.4 years with a well-defined clinical presentation, older patients with KD including adolescent and adult patients demonstrate a less classical presentation with prominent findings including hepatitis, cervical lymphadenopathy, and arthralgia. We describe a case of an adolescent presentation of Kawasaki Disease presenting with a predominantly cholestatic hepatic picture. CASE PRESENTATION: We describe a case of KD in a 16-year-old Caucasian female with predominately hepatic disease that showed resistance to intravenous immunoglobulin (IVIG). The formal diagnosis of KD was made on her 8th day of symptoms. She displayed classical symptoms commencing with fever, followed by peripheral desquamation, strawberry tongue, cervical lymphadenopathy. She became clinically jaundiced with evidence of hepatic artery narrowing on ultrasound that resolved with treatment. Her disease was biphasic and required further IVIG for non-hepatic symptoms. She did not develop coronary aneurysms. CONCLUSION: Significant hepatic dysfunction with clinical jaundice is rare in KD without associated gall bladder hydrops and tends to occur in older patients. We describe such a case and review the five described cases in the literature. Diagnostic delay is more common in adolescent patients and given that the prognosis of KD is closely correlated to diagnostic timing and provision of care, it is important to consider Kawasaki Disease in older demographics especially with undiagnosed hepatic disease.

Admission glycaemia and its association with acute coronary syndrome in Emergency Department patients with chest pain.

BACKGROUND: This study aims to evaluate admission blood glucose level (BGL) in patients presenting to the emergency department (ED) as a risk factor for a major adverse cardiac event (MACE) on presentation and up to 30 days post discharge. Admission BGL is a prognostic indicator in patients with confirmed acute coronary syndrome (ACS). It is unclear if admission BGL improves the diagnosis and stratification of patients presenting to the ED with suspected ACS. METHODS: This study is an analysis of data collected from a prospective observational study. The study population consisted of ED patients from Brisbane, Australia and Christchurch, New Zealand. Patients were enrolled between November 2007 and February 2011. Admission BGL was taken as part of routine admission blood with fasting status unknown. The primary end point for this study was a MACE at presentation and up to 30 days post discharge. Logistic regression analyses examined the relationship between admission hyperglycaemia and MACE. A hyperglycaemic threshold of 7 mmol/L was chosen based on WHO standards. RESULTS: A total of 1708 patients were eligible. A MACE was identified in 336 patients (19.7%) within 30 days. Of these 98 had confirmed unstable angina and 232 had non-ST elevation myocardial infarction. Hyperglycaemia was identified in 476 (27.9%) patients with 147 (30.9%) having a MACE. Admission BGL >7 mmol/L was demonstrated as an independent predictor of a MACE (OR1.51 CI 1.06 to 2.14). Gender, age, hypertension, dyslipidaemia, family history, ischaemic ECG and positive troponin remained important factors. CONCLUSIONS: Admission BGL is an independent risk factor for a MACE in patients with suspected ACS. Hyperglycaemia should be considered a risk factor for MACEs and consideration be given to its inclusion in existing diagnostic tools.