"Joining the dots" for patients with systemic lupus erythematosus: personal perspectives of health care from a qualitative study

OBJECTIVES: To examine the perceptions of patients with systemic lupus erythematosus (SLE) about their health care provision in the United Kingdom. METHODS: Semistructured interviews were conducted with 10 women aged 26 to 68 years who were diagnosed with SLE one to 12 years earlier. Interviews were audio recorded, transcribed verbatim, and analysed using interpretative phenomenological analysis to organise the themes of importance to participants. RESULTS: Four themes emerged: diagnostic difficulties; understanding; communication; and integrated health care. Before diagnosis there was concern to appear legitimately ill and to have a label for the condition. After diagnosis participants still encountered health care professionals who were poorly informed about SLE. Family, friends, and employers did not understand the fluctuating nature of SLE, which often led to isolation. Participants felt that even health care professionals who specialised in SLE could not fully understand the psychosocial impact of the condition, and therefore did not provide information to meet those needs. Participants did not know which of the many health care professionals they had contact with to approach about their concerns. Lack of communication at an interdisciplinary level left them feeling that nobody was "joining the dots" for their health care. CONCLUSIONS: Patients with SLE do not feel understood by health care providers or people close to them. Support from trained volunteers with SLE, as available at the open access lupus clinic in Dudley (West Midlands, UK), would ensure more adequate information from someone with personal experience. Such services may improve communication and help minimise SLE patients' isolation.     

A multicenter study of 210 rotator cuff tears treated by arthroscopic acromioplasty.

We followed 210 cases of rotator cuff tears treated in four French centers by arthroscopic acromioplasty in 195 cases and by a tenotomy of the Long Head of Biceps (LHB) in 15 cases. All patients were evaluated by means of the Constant score (CS) and radiographic imaging. The mean age was 61 years and the mean follow-up period was 26.6 months (range, 12 to 93 months). The preoperative CS was 38.2 points; 41% were supraspinatus tears, 40.2% were supra and infraspinatus tears, 10.5% were three-tendon tears, and 8.1% were supraspinatus and subscapularis tears. The LHB was altered or disrupted in 77% of cases, dislocated or subluxated in 44% of cases. Acromioplasty was associated to tear debridement in 183 cases (88%) and to a tenotomy of the LHB in 38 cases (19%) of which 15 did not benefit from an associated acromioplasty. Global objective results shown by the corrected CS reached 79.7% and were satisfying in 73% of cases. Poor clinical factors were preoperative shoulder stiffness, postoperative painful crises, worker compensation, a preoperative history longer than 4 years, and young age. The poor anatomic factors were osteoarthritis, a lesion of the acromioclavicular joint or of the LHB tendon. An isolated supraspinatus tear will produce much better results than a triple-tendon tear. The persistence of an aggressive acromion was a prejudicial factor. The benefits of LHB tenotomy were evident and could be isolated in case of massive rotator tears. It seems that LHB tenotomy was particularly effective for massive tears of two or more tendons. Arthroscopic acromioplasty is an excellent indication for elderly patients without professional activity, functionally less demanding that a younger patient.     

The Next Wave: Confexting

Radiology conferences enable participants the opportunity to ask experts questions through question and answer (Q and A) sessions or individually. Given the time limitations and intimidating circumstances, we incorporated conference text messaging (confexting) as a method of increasing interactivity between the audience and speakers. During a 5-day radiology conference, text messaging was utilized for anonymous interactivity between the audience and speakers during Q and A sessions. There were 324 text messages; 76 of these were either follow-up statements or questions related to earlier text messages. Forty-two questions were submitted via paper notes. There was a general trend of an increasing number of text messages and a decreasing number of paper notes. The anonymous text messaging system was found to be an effective method for interactivity between the audience and the speakers. The questions and answers could be presented in a PowerPoint format at the formal Q and A sessions. Questions texted to the authors during their talks could be immediately answered or addressed in subsequent talks. Although difficult for some individuals to embrace technology, confexting allows for interactivity and prompts discussion. Confexting is an effective method for interactivity between the audience and speakers not previously utilized in a conference setting. The anonymity and asynchronous communication enable conference participants to submit more questions than in the traditional setting. The speakers may be able to explain more thoroughly difficult concepts more thoroughly with additional slides at Q and A sessions or may immediately answer texted questions during their talks.     

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

Neuronal ceroid lipofuscinoses (NCLs) comprise a heterogeneous group of metabolic storage diseases that present with the accumulation of autofluorescent lipopigment, neurodegeneration and premature death. Nine genes have been thus far identified as the cause of different types of NCL, with ages at onset ranging from around birth to adult, although the underlying etiology of the disease still remains elusive. We present a family with typical NCL pathology in which we performed exome sequencing and identified a single homozygous mutation in ATP13A2 that fully segregates with disease within the family. Mutations in ATP13A2 are a known cause of Kufor-Rakeb syndrome (KRS), a rare parkinsonian phenotype with juvenile onset. These data show that NCL and KRS may share etiological features and implicate the lysosomal pathway in Parkinson's disease.     

Granulocyte colony-stimulating factor administration to healthy volunteers: analysis of the immediate activating effects on circulating neutrophils

In four healthy volunteers, we analyzed in detail the immediate in vivo effects on circulating neutrophils of subcutaneous administration of 300 micrograms of granulocyte colony-stimulating factor (G-CSF). Neutrophil activation was assessed by measurement of degranulation. Mobilization of secretory vesicles was shown by a decrease in leukocyte alkaline phosphatase content of the circulating neutrophils. Furthermore, shortly postinjection, Fc gamma RIII was found to be upregulated from an intracellular pool that we identified by immunoelectron microscopy as secretory vesicles. Intravascular release of specific granules was shown by increased plasma levels of lactoferrin and by upregulation of the expression of CD66b and CD11b on circulating neutrophils. Moreover, measurement of fourfold elevated plasma levels of elastase, bound to its physiologic inhibitor alpha 1- antitrypsin, indicated mobilization of azurophil granules. However, no expression of CD63, a marker of azurophil granules, was observed on circulating neutrophils. G-CSF--induced mobilization of secretory vesicles and specific granules could be mimicked in whole blood cultures in vitro, in contrast to release of azurophil granules. Therefore, we postulate that the most activated neutrophils leave the circulation, as observed shortly postinjection, and undergo subsequent stimulation in the endothelial microenvironment, resulting in mobilization of azurophil granules. Our data demonstrate that G-CSF should be regarded as a potent immediate activator of neutrophils in vivo.     

Treatment of progressive Hodgkin's disease with intensive chemoradiotherapy and autologous bone marrow transplantation

Twenty-six patients with progressive Hodgkin's disease after conventional chemotherapy received intensive chemoradiotherapy and autologous bone marrow transplantation (ABMT); 19 also received additional involved-field radiotherapy. Twenty-one patients [81%, 95% confidence intervals (CI) 61% to 94%] attained complete (n = 18) or partial responses. Ten patients (38%, 95% CI 20% to 59%) are disease- free a median of 4.5 years later (range 3.5 to 7.0 years), including seven patients with continuous complete responses. The likelihood of overall response was not significantly influenced by any clinical or treatment variable examined. However, there was a trend favoring patients with higher Karnofsky scores, and higher scores were associated with attainment of complete responses (P = .06 and P = .02, respectively, Mann-Whitney U test). Both higher Karnofsky scores and shorter durations of disease before transplantation were associated with improved survival in a stepwise Cox multivariate analysis. The chief cause of failure was progression at sites previously involved with Hodgkin's disease. No patient relapsed in the marrow, and two of three patients with a history of marrow involvement with Hodgkin's disease achieved durable complete responses after transplantation. These data suggest that inadequate pretransplant conditioning, and not the reinoculation of occult tumor cells in the autologous marrow, caused most relapses. Fatal treatment-related toxicity occurred in six patients. Three patients died of idiopathic interstitial pneumonitis; each had previously received local mediastinal irradiation before intensive chemoradiotherapy. Intensive chemoradiotherapy and ABMT produces durable responses in some patients with Hodgkin's disease incurable with conventional therapy. Use of such therapies at the first sign of failure with conventional chemotherapy and development of more effective conditioning regimens should further improve results.     

Urinary oestrogen excretion after the menopause in relation to age and body mass

We have measured urinary excretion of free immunoreactive oestrone and oestradiol and their respective glucuronides in relation to creatinine in early morning samples in 132 fit, active postmenopausal women. None of the oestrogen/creatinine ratios was significantly correlated either with age or with years since menopause. However, we did demonstrate significant positive correlations between the levels of all four oestrogens and the body mass index, weight and fat mass. These results are similar to those obtained by other workers for plasma or serum oestrogen levels. Since assessment of oestrogenic status from plasma or serum may call for several samples to allow for the rapid minute-to-minute variation in levels, urinary oestrogenic assays as described may provide a valuable non-invasive measurement of oestrogenic status. Such measurements may have a place in the identification of women at greater risk of developing symptomatic osteoporosis in later life.