Charcot-Marie-Tooth disease(CMT)is a hereditary peripheral neuropathy causing muscle weakness/wasting and sensory dysfunction predominantly in limb extremities.CMT patients display gait abnormalities,foot deformities,...Charcot-Marie-Tooth disease(CMT)is a hereditary peripheral neuropathy causing muscle weakness/wasting and sensory dysfunction predominantly in limb extremities.CMT patients display gait abnormalities,foot deformities,loss of sensation and decreased/absent deep tendon reflexes,with motor symptoms usually being more prominent than sensory.展开更多
Dear Editor,Charcot-Marie-Tooth disease,the most common inherited peripheral neuropathology,is highly heterogeneous among patients and associated with mutations in~100 different genes at an incidence of at least 1:2,5...Dear Editor,Charcot-Marie-Tooth disease,the most common inherited peripheral neuropathology,is highly heterogeneous among patients and associated with mutations in~100 different genes at an incidence of at least 1:2,500[1].Over 30 mutated genes have been identified in CMT2,which is characterized by peripheral axon degeneration and distal deficits in motor function[2].The aminoacyl-tRNA synthetase is the largest family in CMT2 and includes tyrosyl-tRNA synthetase(YARS,tyrosyl-tRNA synthetase).展开更多
The movement of the Iron&Steelmaking(I&S)industry towards Net-Zero emissions and digitalized processes through disruptive,breakthrough technologies will be achieved through the use of Hydrogen.The biggest chal...The movement of the Iron&Steelmaking(I&S)industry towards Net-Zero emissions and digitalized processes through disruptive,breakthrough technologies will be achieved through the use of Hydrogen.The biggest challenge for the refractory industry is to continue to meet the performance expectations while,at the same time,moving to a more sustainable production direction.The complexity and urgency of these technological changes,highlighted by the European Green Deal,requires ambitious,international,interdisciplinary and intersectoral projects,bringing together institutes from across the global value chain,to carry out cutting edge research.The European Union,through its flagship doctoral training program,MSCA,has,and continues to support research and development as well as the promotion of the refractory industry in Europe.An introduction to two MSCA projects and some of the results achieved are highlighted within this article.展开更多
Introduction: A thyroid nodule is a localized hypertrophy within the thyroid parenchyma. The aim of our study was to study the benefit of ultrasound in the Ti-rads classification of thyroid nodules. Methodology: This ...Introduction: A thyroid nodule is a localized hypertrophy within the thyroid parenchyma. The aim of our study was to study the benefit of ultrasound in the Ti-rads classification of thyroid nodules. Methodology: This was a prospective study with a descriptive aim, with prospective collection, which took place over a period of 17 months at the “Marie Curie” medical clinic. The ultrasound machine used was a Voluson E8 from 2011 and the examinations were carried out by two radiologists and two experienced sonographers. The parameters studied were sociodemographic data;clinical data and ultrasound aspects of the Ti-rads classification in the management of nodules. Results: We collected 235 patients out of 738 patients referred to the service for a cervical ultrasound, i.e. a frequency of 31.84% of cases. There was a female predominance with 95.7% of cases and a sex ratio of 0.04. The average age of our patients was 50 years. We found on cervical ultrasound: Isthmo-lobar glandular hyperplasia in 99 patients, i.e. a frequency of 42.1%. The Ti-rads 3 classification was the most represented in 69.4% of cases. The benignity criterion represented 85.6% of cases in our patients and the malignancy criterion represented 14.4% of cases. Conclusion: The precise description of a thyroid nodule provided by ultrasound (Ti-rads) is essential in the management of nodules.展开更多
Q:What kinds of things do youtake pictures of?A:I love taking pictures of food!I like to visit cute cafés and try new foods.Before I take the first bite,I always snap a photo first!
1文献来源
[1] Zhang X J, Huang W, Yang S, et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21 [J]. Nat Genet, 2009,41（2）：205-210.
基金supported by the funding from the Medical Research Council(MR/S006990/1)the Wellcome Trust(103191/A/13/Z)+3 种基金the Rosetrees Trust(M806)the UCL Neurogenetic Therapies Programme funded by The Sigrid Rausing Trustnamed inventor on patent GB2303495.2(patent applicant,UCL Business Ltd.,status pending)which describes and protects AAV-BDNF technology for treatment of CMT。
文摘Charcot-Marie-Tooth disease(CMT)is a hereditary peripheral neuropathy causing muscle weakness/wasting and sensory dysfunction predominantly in limb extremities.CMT patients display gait abnormalities,foot deformities,loss of sensation and decreased/absent deep tendon reflexes,with motor symptoms usually being more prominent than sensory.
基金supported by the National Natural Science Foundation of China(32370825,92249302,92049301,31821002)the Hubei Provincial Natural Science Foundation 2020CFB668.
文摘Dear Editor,Charcot-Marie-Tooth disease,the most common inherited peripheral neuropathology,is highly heterogeneous among patients and associated with mutations in~100 different genes at an incidence of at least 1:2,500[1].Over 30 mutated genes have been identified in CMT2,which is characterized by peripheral axon degeneration and distal deficits in motor function[2].The aminoacyl-tRNA synthetase is the largest family in CMT2 and includes tyrosyl-tRNA synthetase(YARS,tyrosyl-tRNA synthetase).
基金the European Union's Horizon 2020 research and innovation program under grant agreement No.764987.The CESAREF project has received funding from the European Union's Horizon Europe research and innovation programunder grant agreement No.101072625.
文摘The movement of the Iron&Steelmaking(I&S)industry towards Net-Zero emissions and digitalized processes through disruptive,breakthrough technologies will be achieved through the use of Hydrogen.The biggest challenge for the refractory industry is to continue to meet the performance expectations while,at the same time,moving to a more sustainable production direction.The complexity and urgency of these technological changes,highlighted by the European Green Deal,requires ambitious,international,interdisciplinary and intersectoral projects,bringing together institutes from across the global value chain,to carry out cutting edge research.The European Union,through its flagship doctoral training program,MSCA,has,and continues to support research and development as well as the promotion of the refractory industry in Europe.An introduction to two MSCA projects and some of the results achieved are highlighted within this article.
文摘Introduction: A thyroid nodule is a localized hypertrophy within the thyroid parenchyma. The aim of our study was to study the benefit of ultrasound in the Ti-rads classification of thyroid nodules. Methodology: This was a prospective study with a descriptive aim, with prospective collection, which took place over a period of 17 months at the “Marie Curie” medical clinic. The ultrasound machine used was a Voluson E8 from 2011 and the examinations were carried out by two radiologists and two experienced sonographers. The parameters studied were sociodemographic data;clinical data and ultrasound aspects of the Ti-rads classification in the management of nodules. Results: We collected 235 patients out of 738 patients referred to the service for a cervical ultrasound, i.e. a frequency of 31.84% of cases. There was a female predominance with 95.7% of cases and a sex ratio of 0.04. The average age of our patients was 50 years. We found on cervical ultrasound: Isthmo-lobar glandular hyperplasia in 99 patients, i.e. a frequency of 42.1%. The Ti-rads 3 classification was the most represented in 69.4% of cases. The benignity criterion represented 85.6% of cases in our patients and the malignancy criterion represented 14.4% of cases. Conclusion: The precise description of a thyroid nodule provided by ultrasound (Ti-rads) is essential in the management of nodules.
文摘Q:What kinds of things do youtake pictures of?A:I love taking pictures of food!I like to visit cute cafés and try new foods.Before I take the first bite,I always snap a photo first!
文摘1文献来源
[1] Zhang X J, Huang W, Yang S, et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21 [J]. Nat Genet, 2009,41（2）：205-210.
