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Fabiana Fattori Lorenzo Maggi Claudio Bruno Denise Cassandrini Valentina Codemo Michela Catteruccia Giorgio Tasca Angela Berardinelli Francesca Magri Marika Pane Anna Rubegni Lucio Santoro Lucia Ruggiero Patrizio Fiorini Antonella Pini Tiziana Mongini Sonia Messina Giacomo Brisca Irene Colombo Guja Astrea Chiara Fiorillo Cinzia Bragato Isabella Moroni Elena Pegoraro Maria Rosaria D’Apice Enrico Alfei Marina Mora Lucia Morandi Alice Donati Anni Evilä Anna Vihola Bjarne Udd Pia Bernansconi Eugenio Mercuri Filippo Maria Santorelli Enrico Bertini Adele D’Amico 《Journal of neurology》2015,262(7):1728-1740
Centronuclear myopathies (CNMs) are a group of clinically and genetically heterogeneous muscle disorders. To date, mutation in 7 different genes has been reported to cause CNMs but 30 % of cases still remain genetically undefined. Genetic investigations are often expensive and time consuming. Clinical and morphological clues are needed to facilitate genetic tests and to choose the best approach for genetic screening. We aimed to describe genotype–phenotype correlation in an Italian cohort of patients affected by CNMs, to define the relative frequencies of its defined genetic forms and to draw a diagnostic algorithm to address genetic investigations. We recruited patients with CNMs from all the Italian tertiary neuromuscular centers following clinical and histological criteria. All selected patients were screened for the four ‘canonical’ genes related to CNMs: MTM1, DNM2, RYR1 and BIN1. Pathogenetic mutations were found in 38 of the 54 screened patients (70 %), mostly in patients with congenital onset (25 of 30 patients, 83 %): 15 in MTM1, 6 in DNM2, 3 in RYR1 and one in TTN. Among the 13 patients with a childhood–adolescence onset, mutations were found in 6 patients (46 %), all in DNM2. In the group of the 11 patients with adult onset, mutations were identified in 7 patients (63 %), again in DNM2, confirming that variants in this gene are relatively more common in late-onset phenotypes. The present study provides the relative molecular frequency of centronuclear myopathy and of its genetically defined forms in Italy and also proposes a diagnostic algorithm to be used in clinical practice to address genetic investigations. 相似文献
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RE1 silencing transcription factor/neuron‐restrictive silencing factor regulates expansion of adult mouse subventricular zone‐derived neural stem/progenitor cells in vitro 下载免费PDF全文
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Eraldo Occhetta Gianluca Quirino Lara Baduena Rosaria Nappo Chiara Cavallino Emanuela Facchini Paolo Pistelli Andrea Magnani Miriam Bortnik Gabriella Francalacci Gabriele Dell’Era Laura Plebani Paolo Marino 《World journal of cardiology》2015,7(8):490-498
AIM: To evaluate the safety and efficacy of the permanent high interventricular septal pacing in a long term follow up, as alternative to right ventricular apical pacing.METHODS: We retrospectively evaluated: (1) 244 patients (74 ± 8 years; 169 men, 75 women) implanted with a single (132 pts) or dual chamber (112 pts) pacemaker (PM) with ventricular screw-in lead placed at the right ventricular high septal parahisian site (SEPTAL pacing); (2) 22 patients with permanent pacemaker and low percentage of pacing (< 20%) (NO pacing); (3) 33 patients with high percentage (> 80%) right ventricular apical pacing (RVA). All patients had a narrow spontaneous QRS (101 ± 14 ms). We evaluated New York Heart Association (NYHA) class, quality of life (QoL), 6 min walking test (6MWT) and left ventricular function (end-diastolic volume, LV-EDV; end-systolic volume, LV-ESV; ejection fraction, LV-EF) with 2D-echocardiography.RESULTS: Pacing parameters were stable during follow up (21 mo/patient). In SEPTAL pacing group we observed an improvement in NYHA class, QoL score and 6MWT. While LV-EDV didn’t significantly increase (104 ± 40 mL vs 100 ± 37 mL; P = 0.35), LV-ESV slightly increased (55 ± 31 mL vs 49 ± 27 mL; P = 0.05) and LV-EF slightly decreased (49% ± 11% vs 53% ± 11%; P = 0.001) but never falling < 45%. In the RVA pacing control group we observed a worsening of NYHA class and an important reduction of LV-EF (from 56% ± 6% to 43% ± 9%, P < 0.0001).CONCLUSION: Right ventricular permanent high septal pacing is safe and effective in a long term follow up evaluation; it could be a good alternative to the conventional RVA pacing in order to avoid its deleterious effects. 相似文献