Severe congenital neutropenia in a multigenerational family with a novel neutrophil elastase (<Emphasis Type="Italic">ELANE</Emphasis>) mutation

We have analysed a family with nine congenital neutropenia patients in four generations, several of which we have studied in a long-term follow-up of over 25 years. The patients were mild to severe neutropenic and suffered from various recurrent bacterial infections. Mutations in the genes ELANE, CSF3R and GFI1 have been reported in patients with autosomal dominant congenital neutropenias. Using a small-scale linkage analysis with markers around the ELANE, CSF3R, CSF3 and GFI1 genes, we were able to determine that the disease segregated with markers around the ELANE gene. We identified a novel mutation in the ELANE gene in all of the affected family members that was not present in any of the healthy family members. The mutation leads to an A28S missense mutation in the mature protein. None of these patients developed leukaemia. This is the first truly multigenerational family with mutations in ELANE as unambiguous cause of severe congenital neutropenia SCN.     

Implementing Non-violent Resistance,a Method to Cope with Aggression in Child and Adolescent Residential Care: Exploration of Staff Members Experiences

Staff members in residential care for youth are frequently confronted with aggressive behaviour, which has adverse effects on their stress levels and work satisfaction. This paper describes a qualitative evaluation to find out how staff members benefit from Non-violent Resistance (NVR), a method to create an aggression mitigating residential climate. Staff members were positive about NVR and reported feeling more relaxed. Most valued aspects of this method were the focus on being a team, delayed response and giving up the illusion of control. However, training and the intention to use NVR isn't enough, high quality implementation and maintenance are crucial.     

Managing invasive aspergillosis in haematological patients in the era of resistance polymerase chain reaction and increasing triazole resistance: A modelling study of different strategies

Objectives

Triazole resistance in Aspergillus spp. is emerging and complicates prophylaxis and treatment of invasive aspergillosis (IA) worldwide. New polymerase chain reaction (PCR) tests on broncho-alveolar lavage (BAL) fluid allow for detection of triazole resistance at a genetic level, which has opened up new possibilities for targeted therapy. In the absence of clinical trials, a modelling study delivers estimates of the added value of resistance detection with PCR, and which empiric therapy would be optimal when local resistance rates are known.

Hope as a Moderator of Negative Life Events and Depressive Symptoms in a Diverse Sample

Depression is a significant public health problem for young adults of college age, and negative life events exacerbate risk. Not all individuals who experience negative life events, however, report depressive symptoms, perhaps owing to protective characteristics. We examined one such characteristic, trait hope, a goal‐oriented construct, as a potential moderator of the association between negative life events and depressive symptoms in an ethnically diverse sample of 386 college students. In support of our hypotheses, negative life events were significantly associated with greater levels of depressive symptoms, and higher levels of hope attenuated this relationship, such that those with greater hope reported fewer depressive symptoms related to potentially traumatic events. The moderating effect of hope did not differ across ethnic groups. Our findings have implications for managing the sequelae of negative life events, including depression. Cognitive–behavioural interventions tailored to help young adults identify and attain important life goals might help to overcome psychopathology associated with life stress. Copyright © 2012 John Wiley & Sons, Ltd.     

Method validation and clinical utility of chromogenic factor VIII assay compared to one-stage assay

The chromogenic FVIII assay is currently considered the gold standard for quantitation of factor VIII levels in both haemophilia A patients and as part of screening for thrombophilia. A method validation and evaluation of clinical utility within a routine diagnostic laboratory was undertaken by comparing the currently used one-stage assay to a commercially available chromogenic assay (Siemens, Johannesburg, South Africa). In total, 60 samples were included in this study to encompass the whole diagnostic range of the assay. Both low and high values showed very good correlation on linear regression analysis with correlation coeffients of 0.949 and 0.888 respectively. However, the lower detection limit of the Siemens Chromogenic assay was 1.5 IU/dL rendering it impossible to utilize in the setting of classifying a haemophilia A patient in terms of disease severity. Although the Siemens FVIII chromogenic assay shows excellent correlation to the currently used one-stage assay, the relatively high detection limit restrict implementation as a stand-alone assay in a routine diagnostic laboratory.