Electrophysiologic evaluation of Emery-Dreifuss muscular dystrophy. A single fiber and quantitative EMG study

A 16-year-old boy, the only affected member of the family, noticed early onset contracture of the elbows, and developed slowly progressive humeroperoneal weakness and atrophy, and bilateral equinus. The severe restriction of the forward flexion of the neck and thoracolumbar spine, resembled a rigid spine syndrome. An electrocardiogram showed atrioventricular conduction abnormalities. Muscle biopsy was consistent with mild myopathy. The overall conventional findings of a detailed electromyographic study in the limbs and erector trunci muscles, as well as the results of conduction velocity, automatic analysis of the voluntary pattern and single fiber electromyography studies were consistent with myopathy, although some atypical findings were found. The controversy about neurogenic and myopathic features in Emery-Dreifuss disease is discussed. The unspecific value of the flexion limitation of the spine, and the uncertain nosological position of the rigid spine syndrome are also commented.     

Usefulness of 2-dimensional echocardiography in detecting intraventricular thrombi in patients with acute myocardial infarction

The purpose of this study is to determine the importance of two-dimensional echocardiography performed soon after admission to the coronary care unit to provide useful information concerning wall-motion abnormalities, and to detect and characterize left ventricular thrombi. A major goal is to identify a subgroup of patients with acute myocardial infarction who are at risk for systemic embolization; in this subgroup the benefits of anticoagulation treatment would theoretically outweigh the associated risks. We studied 7 consecutive male patients, age range from 32 to 60 years, with acute myocardial infarction. Five patients had antero-septal infarction, 1 anterolateral and another had anterior wall infarction. We performed two-dimensional echocardiography within the first week after admission. All patients had severe apical-wall-motion abnormalities (akinesis or dyskinesis) and left ventricular thrombi. All patients received anticoagulation therapy. Two-dimensional echocardiography, performed one month after the first study, showed that the thrombi had decreased in size in 6 patients and could not be visualized in 1 patient. The noninvasive nature of echocardiography allows serial evaluations of patients with known left ventricular thrombi and permits assessment of the effect of therapy.     

Prevalence of Artemisia species pollinosis in western Poland: impact of climate change on aerobiological trends, 1995-2004.

BACKGROUND: Artemisia species pollen represents a major cause of allergy in Central Europe. Variations in the pollen season, the influence of climate variables and the prevalence of pollinosis to it were analyzed in Poznan, in western Poland between 1995 and 2004. METHODS: A Hirst volumetric spore trap was used for atmospheric sampling. Pollination date trend analysis and Spearman correlation tests were performed. Skin prick tests (SPT) and allergen specific immunoglobulin (lg)E antibody measurements were performed in 676 and 524 patients, respectively. RESULTS: The Artemisia species pollen season grew longer due to a clear advance in the starting day and only a slightly earlier end point; the peak day also came slightly earlier. Rainfall in the first fortnight of July highly influenced pollen season severity. Temperature was directly correlated with daily Artemisia species pollen levels; relative humidity was inversely correlated. Twelve percent of patients had a positive SPT reaction to Artemisia species. Their symptoms were rhinitis and conjunctivitis (15%), atopic dermatitis (15%), chronic urticaria (14.3%), bronchial asthma (2.4%), and facial and disseminated dermatitis (1.3%). Elevated specific IgE concentrations were detected in the sera of 10.1% of patients. CONCLUSIONS: Artemisia species pollen is an important cause of pollinosis in western Poland. Pollen season intensity is highly influenced by rainfall in the previous weeks. Trends towards earlier season starts and longer duration, possibly caused by climate change, may have an impact on the allergic population.     

Seasons and other factors affecting the quality of life of asthmatic children.

OBJECTIVE: To study the effect of seasons on the health-related quality of life (HRQL) of asthmatic children. METHODS: Four groups of asthmatic children 7 to 14 years old were recruited by pediatricians during each season of the year. Their HRQL was assessed by means of the Paediatric Asthma Quality of Life Questionnaire (PAQLQ). Other factors surveyed were asthma severity, atopy, medical treatment, immunotherapy, obesity, parental smoking, and anti-allergic measures. RESULTS: The mean (SD) overall PAQLQ score was highest in summer at 6.2 (1.0) and lowest in autumn at 5.5 (1.2). The same trend was found for domains in summer and autumn, respectively: symptoms, 6.2 (1.0) vs 5.4 (1.4); emotions, 6.5 (0.8) vs 6.0 (1.0); and activities, 5.9 (1.4) vs. 5.0 (1.5). Factors such as male gender (odds ratio [OR], 0.60; 95% confidence interval [CI], 0.41-0.87), being on immunotherapy (OR, 0.59; 95% CI, 0.38-0.92), living in an urban environment (OR, 0.56; 0.33-0.93), and residing on the northern coast of Spain along the Bay of Biscay (OR, 0.56; 0.36-0.89) were independent protective factors against having a total PAQLQ score in the lower tertile. Conversely, being recruited in a primary care setting (OR, 1.55; 1.01-2.38) and having more severe asthma were risks for being in the lower tertile. CONCLUSIONS: Irrespective of the severity of the disease, season has a significant influence on the HRQL of asthmatic children.     

Selective hypersensitivity to boiled razor shell.

Many types of seafood require cooking before ingestion and it has been demonstrated that this cooking process may affect the antigenicity and allergenicity of the food. We describe a case of anaphylaxis caused by selective sensitization to razor shell, a mollusc. In vivo and in vitro studies confirmed sensitization to boiled razor shell. Analysis of the nature of the allergen yielded results that were consistent with the findings of other authors and suggested that allergens involved in seafood allergy are commonly high molecular weight proteins that, in most cases, are heat stable.     

Expression of activation molecules in neutrophils, monocytes and lymphocytes from patients with unstable angina treated with stent implantation.

Coronary angioplasty is known to mediate an inflammatory response. Recently, we have characterized the transient systemic inflammatory response after coronary stent implantation in patients with unstable angina by measuring different soluble protein markers. In the present study we have characterized the expression of various cellular activation markers in neutrophils, monocytes and lymphocytes from the same group of patients. Peripheral blood samples were taken before and 24 h, 48 h and 7 days after successful coronary stenting in 58 patients. Cell surface markers (CD11b/CD18 and CD38) were analyzed by flow cytometry to determine the activation of neutrophils, monocytes and T lymphocytes. We found that coronary angioplasty with stent implantation produces an increase in the cell surface expression of CD11b/CD18 in neutrophils and CD38 in monocytes, following a similar time-course with a peak after 24 h, returning to basal levels after 48 h and a second peak after 7 days. However, T lymphocytes were not found to be activated. These results suggest that coronary stent implantation induces a different pattern inducing soluble and cellular inflammation markers, and therefore, they should be taken into account in patients undergoing stent implantation to study clinical correlations.     

Opioid receptor binding in parahippocampus of patients with temporal lobe epilepsy: its association with the antiepileptic effects of subacute electrical stimulation.

Opioid receptor binding was evaluated in parahippocampal cortex (PHC) obtained from patients with intractable mesial temporal lobe epilepsy (MTLE) with and without subacute high frequency electrical stimulation (HFS) in this brain area. Mu, delta and nociceptin receptor binding was determined by autoradiography in PHC of five patients (ESAE group) with MTLE history of 14.8 +/- 2.5 years and seizure frequency of 11 +/- 2.9 per month, two of them (40%) with mesial sclerosis. This group demonstrated antiepileptic effects following subacute HFS (130 Hz, 450 micros, 200-400 microA), applied continuously during 16-20 days in PHC. Values were compared with those obtained from patients with severe MTLE (history of 21.7 +/- 2.8 years and seizure frequency of 28.2 +/- 14 per month) in whom electrical stimulation did not induce antiepileptic effects (ESWAE group, n = 4), patients with MTLE in whom no electrical stimulation was applied (MTLE group, n = 4) and autopsy material acquired from subjects without epilepsy (n = 4 obtained from three subjects). Enhanced 3H-DAMGO (MTLE, 755%; ESAE, 375%; ESWAE, 693%), 3H-DPDPE (MTLE, 242%; ESAE, 80%; ESWAE, 346%) and 3H-nociceptin (MTLE, 424%; ESAE, 217%; ESWAE, 451%) binding was detected in the PHC of all epileptic groups. However, tissue obtained from ESAE group demonstrated lower opioid receptor binding (3H-DAMGO, 44.5%, p < 0.05; 3H-DPDPE, 47%, p < 0.05; 3H-nociceptin, 39.3%, p < 0.5) when compared with MTLE group. The present results indicate that a high effectiveness to the antiepileptic effects induced by HFS is associated with reduced opioid peptide binding.     

Endoscopic treatment of oesophageal leiomyoma: four new cases

Abstract Background and study aims: The advent of endoscopic techniques in the last decades has produced a change in the approach of the oesophageal leiomyoma. The aim of the study is to explain our experience in the laparoscopic surgery of the oesophageal leiomyoma. Materials and methods: We realised a retrospective study of the oesophageal leiomyoma operated on in our centre by the endoscopic approach between 2001 and 2004. There were two females and two males. All were symptomatic and pyrosis was the most frequent symptom. The preoperative study was an oral endoscopy and barium swallow. In all the cases enucleation was performed, two by thoracoscopy and two by laparoscopy approach. Results: The mean operating time was 230 min. No deaths or intraoperative complications occurred and there were no cases of conversion to open surgery either. The mean postoperative hospital stay was 3.25 days (range 2–4 days). There was no case of recurrence. Conclusions: The enucleation is an easier procedure and constitutes the therapy of choice of the oesophageal leiomyoma. We think that muscle borders should be closed after enucleation and that biopsy is not indicated preoperatively.