目的提高临床医师对线粒体脑肌病伴高乳酸血症和卒中样发作综合征(mitochondrial encephalomyopathy with lactic academia and stroke-like episodes,MELAS)的认识,以早期诊断及治疗,改善患者预后。方法结合MELAS既往的文献报道,总结ME...目的提高临床医师对线粒体脑肌病伴高乳酸血症和卒中样发作综合征(mitochondrial encephalomyopathy with lactic academia and stroke-like episodes,MELAS)的认识,以早期诊断及治疗,改善患者预后。方法结合MELAS既往的文献报道,总结MELAS患者的临床表现、实验室及影像学检查、病理特点、基因检测、诊断标准及鉴别诊断、治疗与预后情况。结果MELAS患者主要表现为运动不耐受、卒中样发作、癫痫、失明、眼外肌瘫痪、听力下降、癫痫,肌酸激酶正常或者增高,运动后血乳酸增高。肌肉活检见破碎红纤维(RRF)和SDH染色肌间小血管强染(SSV),ATP酶染色可见肌纤维呈棋盘格样分布,HE染色可见边缘嗜碱性肌纤维。头MRI表现皮层卒中样改变、脑萎缩。结论 MELAS患者主要以脑和肌肉受累为主要临床表现,RRF、SSV、肌纤维呈棋盘格样分布、嗜碱性肌纤维为肌肉活检的主要特点。展开更多
With the ever increasing complexity of active pharmaceutical ingredient (API) preparations, more potential genotoxic impurities (PGI’s) are being observed. It is thus necessary to determine if these PGI’s are presen...With the ever increasing complexity of active pharmaceutical ingredient (API) preparations, more potential genotoxic impurities (PGI’s) are being observed. It is thus necessary to determine if these PGI’s are present in the final API’s, and if they are present, to ensure the levels are acceptable for any clinical uses. For PGI’s that have authentic standards available, quantitation can be accomplished in a straightforward manner. However, for PGI’s that are expected to form through rearrangements or side reactions, authentic standards may not be readily available, significantly complicating the analysis. In this study we describe a surrogate standard approach for quantifying PGI’s that allows for relative response factor calculations of PGI species utilizing both gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-mass spectrometry (LC-MS).展开更多
文摘目的提高临床医师对线粒体脑肌病伴高乳酸血症和卒中样发作综合征(mitochondrial encephalomyopathy with lactic academia and stroke-like episodes,MELAS)的认识,以早期诊断及治疗,改善患者预后。方法结合MELAS既往的文献报道,总结MELAS患者的临床表现、实验室及影像学检查、病理特点、基因检测、诊断标准及鉴别诊断、治疗与预后情况。结果MELAS患者主要表现为运动不耐受、卒中样发作、癫痫、失明、眼外肌瘫痪、听力下降、癫痫,肌酸激酶正常或者增高,运动后血乳酸增高。肌肉活检见破碎红纤维(RRF)和SDH染色肌间小血管强染(SSV),ATP酶染色可见肌纤维呈棋盘格样分布,HE染色可见边缘嗜碱性肌纤维。头MRI表现皮层卒中样改变、脑萎缩。结论 MELAS患者主要以脑和肌肉受累为主要临床表现,RRF、SSV、肌纤维呈棋盘格样分布、嗜碱性肌纤维为肌肉活检的主要特点。
文摘With the ever increasing complexity of active pharmaceutical ingredient (API) preparations, more potential genotoxic impurities (PGI’s) are being observed. It is thus necessary to determine if these PGI’s are present in the final API’s, and if they are present, to ensure the levels are acceptable for any clinical uses. For PGI’s that have authentic standards available, quantitation can be accomplished in a straightforward manner. However, for PGI’s that are expected to form through rearrangements or side reactions, authentic standards may not be readily available, significantly complicating the analysis. In this study we describe a surrogate standard approach for quantifying PGI’s that allows for relative response factor calculations of PGI species utilizing both gas chromatography-mass spectrometry (GC-MS) and liquid chromatography-mass spectrometry (LC-MS).
