Patient experiences of an ankle fracture and the most important factors in their recovery : a qualitative interview study

Objective The objective of this qualitative research study is to explore patient experiences of ankle fracture and the factors most important to them in recovery. Design Semistructured interviews exploring patient experiences of ankle fracture recovery at 16–23 weeks following injury. Interviews followed a topic guide and were recorded with an encrypted audio recorder and then transcribed verbatim. Thematic content analysis was used to identify themes in the data. Setting Individuals were recruited from a sample of participants of a UK-based clinical trial of immobilisation methods for ankle fracture (ISRCTN15537280 at the pre-results stage at time of writing). Interviews were conducted at the participants’ own homes or on a university campus setting. Participants A purposive sample was used to account for key variables of age, gender and fracture management. Participants recruited from the clinical trial sample were adults aged 18 years or over with a closed ankle fracture. Results Ten participants were interviewed, five of whom were female and six of whom needed an operation to fix their ankle fracture. The age range of participants was 21–75 years with a mean of 51.6 years. Eight themes emerged from the data during analysis; mobility, loss of independence, healthcare, psychological effects, social and family life, ankle symptoms, sleep disturbance and fatigue, and activities of daily living. Factors of importance to participants included regaining their independence, sleep quality and quantity, ability to drive, ability to walk without walking aids or weight-bearing restrictions, and radiological union. Conclusions The results of this research demonstrates the extensive impact of ankle fracture on individuals’ lives, including social and family life, sleep, their sense of independence and psychological well-being. The results of this study will enable an increased understanding of the factors of relevance to individuals with ankle fracture, allowing collection of appropriate outcomes in clinical studies for this condition. Ultimately these results will help formulate appropriate patient-centred rehabilitation plans for these patients

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY). To date, mutation screening has been limited to patients with a family history consistent with MODY. In this study, we investigated the prevalence of HNF4A mutations in a large cohort of patients with diazoxide responsive hyperinsulinemic hypoglycemia (HH). Subjects and methods: We sequenced the ABCC8, KCNJ11, GCK, GLUD1, and/or HNF4A genes in 220 patients with HH responsive to diazoxide. The order of genetic testing was dependent upon the clinical phenotype. Results: A genetic diagnosis was possible for 59/220 (27%) patients. KATP channel mutations were most common (15%) followed by GLUD1 mutations causing hyperinsulinism with hyperammonemia (5.9%), and HNF4A mutations (5%). Seven of the 11 probands with a heterozygous HNF4A mutation did not have a parent affected with diabetes, and four de novo mutations were confirmed. These patients were diagnosed with HI within the first week of life (median age 1 day), and they had increased birth weight (median +2.4 SDS). The duration of diazoxide treatment ranged from 3 months to ongoing at 8 years. Conclusions: In this large series, HNF4A mutations are the third most common cause of diazoxide responsive HH. We recommend that HNF4A sequencing is considered in all patients with diazoxide responsive HH diagnosed in the first week of life irrespective of a family history of diabetes, once KATP channel mutations have been excluded

Communicating biopsy results from breast screening assessment::current practice in English breast screening centres and staff perspectives of telephoning results

Objective To record how breast screening centres in England deliver all biopsy results (cancer/non-cancer) from the breast assessment visit.Design Online survey of 63 of 79 breast screening centres in England from all regions (East Midlands, East of England, London, North East Yorkshire & Humber, North West, South East, South West, West Midlands). The survey contained quantitative measures of frequency for telephoning biopsy results (routinely, occasionally or never) and optional qualitative free-text responses. Surveys were completed by a staff member from each centre.Results There were no regional trends in the use of telephone results services, (X² (14, n=63)=11.55, p=0.64), Centres who telephoned results routinely did not deliver results sooner than centres who deliver results in-person (X² (16, n=63)=12.76, p=0.69).When delivering cancer results, 76.2% of centres never telephone results and 23.8% of centres occasionally telephone results. No centres reported delivering cancer results routinely by telephone. Qualitative content analysis suggests that cancer results are only telephoned at the patient request and under exceptional circumstances.When delivering non-cancer results, 12.7% of centres never telephoned results, 38.1% occasionally telephoned results and 49.2% routinely telephoned results. Qualitative content analysis revealed different processes for delivering telephone results, including patient choice and scheduling an in-person results appointment for all women attending breast assessment, then ringing non-cancer results unexpectedly ahead of this prebooked appointment.Conclusions In the National Health Service Breast Screening Programme, breast assessment results that are cancer are routinely delivered in-person. However, non-cancer breast assessment results are often routinely delivered by telephone, despite breast screening policy recommendations. More research is needed to understand the impact of telephoning results on women attending breast assessment, particularly women who receive a non-cancer result. Future research should also consider how women themselves might prefer to receive their results

The role of octadecanoids and functional mimics in soybean defense responses

Oxylipins of the jasmonate pathway and synthetic functional analogs have been analyzed for their elicitor like activities in an assay based on the induced accumulation of glyceollins, the phytoalexins of soybean (Glycine max L.), in cell suspension cultures of this plant. Jasmonic acid (JA) and its methyl ester showed weak phytoalexininducing activity when compared to an early jasmonate biosynthetic precursor, 12-oxophytodienoic acid (OPDA), as well as to the bacterial phytotoxin coronatine and certain 6-substituted indanoylLisoleucine methyl esters, which all were highly active. Interestingly, different octadecanoids and indanoyl conjugates induced the accumulation of transcripts of various defenserelated genes to different degrees, indicating distinct induction competencies. Therefore, these signaling compounds and mimics were further analyzed for their effects on signal transduction elements, such as the transient enhancement of the cytosolic Ca2+ concentration and MAP kinase activation, which are known to be initiated by a soybean pathogenderived {[}beta]glucan elicitor. In contrast to the {[}beta]glucan elicitor, none of the other compounds tested triggered these early signaling elements. Moreover, endogenous levels of OPDA and JA in soybean cells were shown to be unaffected after treatment with {[}beta]glucans. Thus, OPDA and JA, which are functionally mimicked by coronatine and a variety of 6-substituted derivatives of indanoylLisoleucine methyl ester, represent highly efficient signaling compounds of a lipidbased pathway not deployed in the {[}beta]glucan elicitorinitiated signal transduction