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.     

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.     

MRI技术对高原人群颅脑脱髓鞘疾病回顾性研究

目的研究高原地区,脱髓鞘疾病与中老年人疾病等因素的关系。方法对我院所有接受过磁共振头部扫描的病人进行评估,确诊出40位脱髓鞘疾病患者,并对大脑7个部位的脱髓鞘疾病按严重性分4级打分,统计临床数据,最后运用统计学方法分析其相关性。结果在40例患者中,出现在大脑半球、放射冠、半卵圆中心和脑室前后角的脑白质损伤频率最多,分别占总量的50%、67.5%、77.5%和87.5%。脑白质损伤患者的平均年龄为47.1岁,这比世界其他地区都有明显的提前。男性患者将近是女性患者的3倍(29∶11)。年龄、慢性高原红细胞增多症、收缩压、脑梗塞与脑白质损伤正相关(P<0.05)。结论对于高海拔地区,有效控制高原心血管疾病的发生对于减少颅脑脱髓鞘疾病的发生具有重要意义。     

Contribution of hypoxia-measuring molecular imaging techniques to radiotherapy planning and treatment

Hypoxia is related to poor prognosis because it is associated to chemo-and radioresistance. During recent years the evolution of imaging methods like PET/CT and MRI has meant the appearance of new perspectives with direct implications in radiation therapy. We discuss previous experiences in staging, planning and in the follow-up process with these techniques for measuring tumour hypoxia.