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1.
认知功能障碍在肌萎缩侧索硬化(ALS)患者中是普遍存在的,ALS伴认知功能障碍常提示预后不良。近年来对ALS患者认知功能障碍的研究取得了一定的进展,本文对ALS伴认知功能障碍的临床特点、生物标志物、遗传学特征和最新治疗进展进行综述,以期为ALS伴认知功能障碍的临床诊疗提供新思路。 相似文献
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This commentary focuses on the emerging intersection between BMP/TGF-β signaling roles in nervous system function and the amyotrophic lateral sclerosis (ALS) disease state. Future research is critical to elucidate the molecular underpinnings of this intersection of the cellular processes disrupted in ALS and those influenced by BMP/TGF-β signaling, including synapse structure, neurotransmission, plasticity, and neuroinflammation. Such knowledge promises to inform us of ideal entry points for the targeted modulation of dysfunctional cellular processes in an effort to abrogate ALS pathologies. It is likely that different interventions are required, either at discrete points in disease progression, or across multiple dysfunctional processes which together lead to motor neuron degeneration and death. We discuss the challenging, but intriguing idea that modulation of the pleiotropic nature of BMP/TGF-β signaling could be advantageous, as a way to simultaneously treat defects in more than one cell process across different forms of ALS. 相似文献
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《Clinical neurophysiology》2021,132(9):2003-2011
ObjectiveA large N20 and P25 of the median nerve somatosensory evoked potential (SEP) predicts short survival in amyotrophic lateral sclerosis (ALS). We investigated whether high frequency oscillations (HFOs) over N20 are enlarged and associated with survival in ALS.MethodsA total of 145 patients with ALS and 57 healthy subjects were studied. We recorded the median nerve SEP and measured the onset-to-peak amplitude of N20 (N20o-p), and peak-to-peak amplitude between N20 and P25 (N20p-P25p). We obtained early and late HFO potentials by filtering SEP between 500 and 1 kHz, and measured the peak-to-peak amplitude. We followed up patients until endpoints (death or tracheostomy) and analyzed the relationship between SEP or HFO amplitudes and survival using a Cox analysis.ResultsPatients showed larger N20o-p, N20p-P25p, and early and late HFO amplitudes than the control values. N20p-P25p was associated with survival periods (p = 0.0004), while early and late HFO amplitudes showed no significant association with survival (p = 0.4307, and p = 0.6858, respectively).ConclusionsThe HFO amplitude in ALS is increased, but does not predict survival.SignificanceThe enlarged HFOs in ALS might be a compensatory phenomenon to the hyperexcitability of the sensory cortex pyramidal neurons. 相似文献
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Discoid lupus erythematosus (DLE) is the most common skin manifestation of lupus; however, the molecular mechanisms underlying DLE remain unknown. Therefore, we aimed to identify key differentially expressed genes (DEGs) in discoid lupus skin and investigate their potential pathways.To identify candidate genes involved in the occurrence and development of the disease, we downloaded the microarray datasets and GSE52471 from the Gene Expression Database (GEO). DEGs between discoid lupus skin and normal controls were selected using the GEO2R tool and Venn diagram software ( GSE72535http://bioinformatics.psb.ugent.be/webtools/Venn/). The Database for Annotation, Visualization, and Integrated Discovery (DAVID), Enrichr, and Cytoscape ClueGo were used to analyze the Kyoto Encyclopedia of Gene and Genome pathways and gene ontology. Protein-protein interactions (PPIs) of these DEGs were further assessed using the Search Tool for the Retrieval Interacting Genes version 10.0.Seventy three DEGs were co-expressed in both datasets. DEGs were predominantly upregulated in receptor signaling pathways of the immune response. In the PPI network, 69 upregulated genes were selected. Furthermore, 4 genes (CXCL10, ISG15, IFIH1, and IRF7) were found to be significantly upregulated in the RIG-I-like receptor signaling pathway, from analysis of Enrichr and Cytoscape ClueGo.The results of this study may provide new insights into the potential molecular mechanisms of DLE. However, further experimentation is required to confirm these findings. 相似文献
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目的 探究原发灶定位与甲状腺乳头状微小癌(PTMC)颈侧区淋巴结转移的关系,评估超声检查预测颈侧区淋巴结转移的准确率。方法 回顾性分析2014年1月至2015年12月天津医科大学肿瘤医院收治的134例PTMC病人的临床资料,均行中央区淋巴结清扫+改良颈侧区淋巴结清扫。依据超声定位分组,分析癌灶位置与颈侧区淋巴结转移的关系。结果 颈侧各分区淋巴结转移发生率分别为:Ⅱ区30.6%、Ⅲ区50.7%、Ⅳ区57.5%、Ⅴ区11.3%。癌灶位于中上极者颈侧区淋巴结转移发生率高于癌灶位于下极者(89.7% vs. 75.7%,P=0.038),靠近外侧者较内侧者更易出现颈侧区淋巴结转移(93.7% vs. 81.4%,P=0.049)。超声检查判定Ⅱ、Ⅲ、Ⅳ、Ⅴ区淋巴结转移的敏感度分别为43.9%、85.3%、85.7%、14.3%;特异度为91.4%、57.6%、35.1%、99.1%。超声预测Ⅲ、Ⅳ区淋巴结转移敏感度较高,Ⅱ、Ⅴ区淋巴结转移特异度较高。结论 癌灶位置与甲状腺微小癌颈侧区淋巴结转移密切相关,超声可为临床确定颈侧区淋巴结的清扫范围提供依据。 相似文献
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Background: Spasticity and pain in the masticatory muscles or mouth opening limitation have been reported as early signs and symptoms of amyotrophic lateral sclerosis (ALS). These signs and symptoms are also frequently seen in, and thus mistaken for, temporomandibular disorders (TMD).
Clinical presentation: The authors report a case of ALS initially presenting with signs and symptoms of TMD. The TMD was followed by dysarthria of insidious onset, leading to the diagnosis of ALS. This case highlights the importance of considering TMD as a potential early form of presentation of ALS, requiring multidisciplinary treatment, especially by dental professionals.
Conclusion: A review of the literature was conducted to elucidate the oral and facial signs and symptoms of ALS and to identify ways of improving the quality of life of patients through a multidisciplinary approach. 相似文献
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