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Hicham Charoute Halima Nahili Omar Abidi Khalid Gabi Hassan Rouba Malika Fakiri Abdelhamid Barakat 《European journal of human genetics : EJHG》2014,22(3):322-326
National and ethnic mutation databases provide comprehensive information about genetic variations reported in a population or an ethnic group. In this paper, we present the Moroccan Genetic Disease Database (MGDD), a catalogue of genetic data related to diseases identified in the Moroccan population. We used the PubMed, Web of Science and Google Scholar databases to identify available articles published until April 2013. The Database is designed and implemented on a three-tier model using Mysql relational database and the PHP programming language. To date, the database contains 425 mutations and 208 polymorphisms found in 301 genes and 259 diseases. Most Mendelian diseases in the Moroccan population follow autosomal recessive mode of inheritance (74.17%) and affect endocrine, nutritional and metabolic physiology. The MGDD database provides reference information for researchers, clinicians and health professionals through a user-friendly Web interface. Its content should be useful to improve researches in human molecular genetics, disease diagnoses and design of association studies. MGDD can be publicly accessed at http://mgdd.pasteur.ma. 相似文献
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Mainigi SK Almuti K Figueredo VM Guttenplan NA Aouthmany A Smukler J Sheeron B Meldrum B Saenz AD Tran G Greenspan AM 《The American journal of cardiology》2012,109(2):231-237
Inappropriate implantable cardioverter-defibrillator (ICD) therapies can lead to significant adverse events and increased mortality. These therapies are often the result of supraventricular tachycardias (SVTs). The objective of this study was to evaluate the incidence of SVT leading to inappropriate shocks in a large cohort of patients with ICDs and assess the efficacy of radiofrequency ablation (RFA) in decreasing these therapies. Patients with ICDs and recurrent SVTs were identified. A cohort of patients with ICD therapies subsequently underwent electrophysiologic study and RFA. Eighty-four patients (13%) were found to have SVT leading to 122 inappropriate ICD shocks and 130 episodes of antitachycardia pacing therapies. Median time to SVT onset after ICD implantation was 269 days. Electrophysiologic studies were performed in 30 patients. Successful RFA was performed for atrial tachycardia, atrial flutter, or atrioventricular nodal reentrant tachycardia in 22 patients. Ninety-five percent of patients who underwent successful SVT ablation had no further inappropriate ICD therapies compared to 63% of patients in whom ablation was not performed during a mean follow-up of 20.7 ± 11.9 months. In conclusion, SVT is responsible for a significant number of inappropriate ICD therapies. RFA is an effective strategy to substantially decrease subsequent inappropriate ICD therapies. 相似文献
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Feng Y Zhao JW Liu M Wang TJ Qi ZP Wang XT Ling LM Gao L Hou S Chang S Feng JC Wang YF Li YQ 《The Journal of craniofacial surgery》2012,23(3):909-912
The objective of this study was to measure the related parameters of intercarotid artery (ICA) in the operative plane of endonasal transsphenoidal approach for hypophyseal surgeries. Nine parameters of the ICA were examined in the computed tomographic angiographic (CTA) scan of 101 patients. The shortest distance between the middle point of the nasal columella and the projective point of the ICA (D(3)) was 85.50 (5.79) mm. The shortest distance between the anterior wall of the sphenoid sinus and the projective point of the ICA (D(4)) was 16.93 (3.50) mm. The distance between the bilateral projective points of the ICA (D(5)) was 21.60 (3.45) mm. The shortest distance from the anterior wall of the sphenoid sinus to the line between the bilateral projective points of the ICA (D(6)) was 12.1 (3.91) mm. The shortest distance between the middle point of nasal columella and the anterior wall of the sphenoid sinus (D(7)) was 72.67 (5.99) mm. The width of the angle between the bilateral ICA projective point from the middle point of the nasal columella (A(1)) was 14.9 (2.32) degrees. The width of the angle between the bilateral ICA projective points from the anterior-most point of sphenoid sinus (A(2)) was 85.49 (18.12) degrees. Clinically, it is relatively safe to work within the distances and angles measured in this research, and these results may provide information for clinical surgery of pituitary tumor. 相似文献
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