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排序方式: 共有912条查询结果,搜索用时 0 毫秒
911.
Nicolas Pons Gorka Fernández-Eulate Antoine Pegat Marie Théaudin Régis Guieu Paolo Ripellino Manon Devedjian Patrick Mace Marion Masingue Sarah Léonard-Louis Philipe Petiot Pauline Roche Emilien Bernard Françoise Bouhour Jean-Marc Good Annie Verschueren Aude-Marie Grapperon Emmanuelle Salort Anaïs Grosset Jean-Baptiste Chanson Aleksandra Nadaj-Pakleza Anne-Laure Bédat-Millet Ariane Choumert Anne Barnier Ghassen Hamdi Gaëtan Lesca Fabienne Prieur Arnaud Bruneel Philippe Latour Tanya Stojkovic Shahram Attarian Nathalie Bonello-Palot 《European journal of neurology》2023,30(7):2001-2011
Background and purpose
Biallelic variants in SORD have been reported as one of the main recessive causes for hereditary peripheral neuropathies such as Charcot–Marie–Tooth disease type 2 (CMT2) and distal hereditary motor neuropathy (dHMN) resulting in lower limb (LL) weakness and muscular atrophy. In this study, phenotype and genotype landscapes of SORD-related peripheral neuropathies were described in a French and Swiss cohort. Serum sorbitol dosages were used to classify SORD variants.Methods
Patients followed at neuromuscular reference centres in France and Switzerland were ascertained. Sanger sequencing and next generation sequencing were performed to sequence SORD, and mass spectrometry was used to measure patients' serum sorbitol.Results
Thirty patients had SORD peripheral neuropathy associating LL weakness with muscular atrophy, foot deformities (87%), and sometimes proximal LL weakness (20%) or distal upper limb weakness (50%). Eighteen had dHMN, nine had CMT2, and three had intermediate CMT. Most of them had a mild or moderate disease severity. Sixteen carried a homozygous c.757delG (p.Ala253Glnfs*27) variant, and 11 carried compound heterozygous variants, among which four variants were not yet reported: c.403C > G, c.379G > A, c.68_100 + 1dup, and c.850dup. Two unrelated patients with different origins carried a homozygous c.458C > A variant, and one patient carried a new homozygous c.786 + 5G > A variant. Mean serum sorbitol levels were 17.01 mg/L ± 8.9 SD for patients carrying SORD variants.Conclusions
This SORD-inherited peripheral neuropathy cohort of 30 patients showed homogeneous clinical presentation and systematically elevated sorbitol levels (22-fold) compared to controls, with both diagnostic and potential therapeutic implications. 相似文献912.
Masoud Moslehi Sepideh Rezaei Pourya Talebzadeh Mohammad Javed Ansari Mohammed Abed Jawad Abduladheem Turki Jalil Nima Rastegar-Pouyani Emad Jafarzadeh Shahram Taeb Masoud Najafi 《Clinical and experimental pharmacology & physiology》2023,50(1):3-18
The incidence of cancer has been growing worldwide. Better survival rates following the administration of novel drugs and new combination therapies may concomitantly cause concern regarding the long-term adverse effects of cancer therapy, for example, second primary malignancies. Moreover, overcoming tumour resistance to anticancer agents has been long considered as a critical challenge in cancer research. Some low toxic adjuvants such as herb-derived molecules may be of interest for chemoprevention and overcoming the resistance of malignancies to cancer therapy. Apigenin is a plant-derived molecule with attractive properties for chemoprevention, for instance, promising anti-tumour effects, which may make it a desirable adjuvant to reduce genomic instability and the risks of second malignancies among normal tissues. Moreover, it may improve the efficiency of anticancer modalities. This paper aims to review various effects of apigenin in both normal tissues and malignancies. In addition, we explain how apigenin may have the ability to protect usual cells against the genotoxic repercussions following radiotherapy and chemotherapy. Furthermore, the inhibitory effects of apigenin on tumours will be discussed. 相似文献