Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma

PURPOSE: Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of germ-line and somatic SDHD mutations in patients with parasympathetic PGL. EXPERIMENTAL DESIGH: We studied 57 unselected patients who developed parasympathetic PGLs (n = 105 tumors) and who were treated between 1987 and 1999 at the Erasmus MC (Rotterdam, the Netherlands). Thirty-eight (67%) of these patients (n = 51 tumors) lacked a family history of parasympathetic PGL. We used conformation-dependent gel electrophoresis and sequence determination analysis of germ-line and tumor DNA to identify SDHD mutations. We compared the clinical and molecular characteristics of sporadic and hereditary PGLs. RESULTS: Three different SDHD germ-line mutations were identified in 32 of the 57 (56%) patients. These included 19 of 19 (100%) patients with familial PGL and also 13 of 38 (34%) patients with apparently sporadic PGL. All three mutations were characterized as missense mutations (D92Y, L95P, and L139P) in highly conserved regions of the SDHD gene and were not observed in 200 control alleles. No somatic mutations were found. CONCLUSIONS: Germ-line mutations of the SDHD gene are present in a significant number of patients with apparently sporadic parasympathetic PGL. Somatic SDHD mutations do not play a significant role in the sporadic form of this tumor. Genetic testing for SDHD germ-line mutations should be considered for every patient presenting with this tumor, even if a personal or family history of PGL is absent, to allow appropriate clinical management

A Rapid Detection of Meat Spoilage using an Electronic Nose and Fuzzy-Wavelet systems

Freshness and safety of muscle foods are generally considered as the most important parameters for the food industry. To address the rapid detection of meat spoilage microorganisms during aerobic or modified atmosphere storage, an electronic nose with the aid of fuzzy wavelet network has been considered in this research. The proposed model incorporates a clustering pre-processing stage for the definition of fuzzy rules. The dual purpose of the proposed modelling approach is not only to classify beef samples in the respective quality class (i.e. fresh, semi-fresh and spoiled), but also to predict their associated microbiological population directly from volatile compounds fingerprints. Comparison results against neural networks and neurofuzzy systems indicated that the proposed modelling scheme could be considered as a valuable detection methodology in food microbiolog

Efficacy versus complications in arterial thrombolysis

BACKGROUND: Acute peripheral arterial occlusions threaten life and limb. Thrombolysis is an established, minimally invasive alternative treatment for surgical thromboembolectomy. Yet, there is no consensus regarding an optimal thrombolysis protocol and current knowledge is largely based on studies from the 1990's. This study reviews a contemporary cohort of patients treated with thrombolysis and aims to evaluate the treatment results and to identify possible predictors for outcome and (bleeding) complications. METHODS: The electronic health record data of all consecutive patients who underwent thrombolysis for acute limb ischemia due to thromboembolic lower extremity arterial occlusions between April 2006-June 2012, were analyzed. Endpoints were change in clinical stage of ischemia, incidence of bleeding complications, duration of thrombolysis, predictors of outcome and -complications and mortality and amputation-free rates after 30-day and 6-months follow-up. RESULTS: In total 109 cases were included. Clinical improvement was observed in 79%. Amputation-free rates at 30-days and 6 months were 94% and 90% respectively. The incidence of major bleeding complications was 13%. Median duration of thrombolysis was 27 (4-68) hours. Mortality rates at 30-days and 6-months were 7% and 16% respectively; none bleeding related. In addition to age, popliteal artery occlusions and a progressed chronic vascular stage are predictive for a worse outcome. Age, female sex and cardiac history were risk factors for bleeding. CONCLUSIONS: Treatment of peripheral arterial occlusions with high dose thrombolysis on an intensive-care unit yields high clinical success rates but major bleeding complications are often observed. Strict clinical observation remains essential since intensive monitoring of haemostatic parameters during thrombolysis doesn't predict bleeding complications