BACKGROUND Mitochondrial diseases are a heterogenous group of multisystemic disorders caused by genetic mutations affecting mitochondrial oxidation function. Brain involvement is commonly found in most cases but rarel...BACKGROUND Mitochondrial diseases are a heterogenous group of multisystemic disorders caused by genetic mutations affecting mitochondrial oxidation function. Brain involvement is commonly found in most cases but rarely as the unique clinical manifestation. Since the knowledge of its clinical manifestation combined with genetic testing is important for preventing misdiagnosis and delay in treatment,we report here how we diagnosed and managed a very unusual case of mitochondrial encephalopathy.CASE SUMMARY We report a 52-year-old woman with recurrent stroke-like episodes carrying the m.10158 T>C mutation in the MT-ND3 gene, which is also responsible for fatal infant-onset Leigh syndrome. Despite the common mutation, the present case featured a distinct clinical and neuroimaging manifestation from Leigh syndrome. This patient presented with sudden onset of right-sided hemiparesis and hemilateral sensory disturbance accompanied by a left temporal cluster-like headache and later developed epilepsy during hospitalization, with no other signs suggestive of myopathy, lactate acidosis, or other systemic symptoms. Brain magnetic resonance imaging revealed variable lesions involving multiple cortical and subcortical regions. Furthermore, a negative genetic test obtained from peripheral blood delayed the diagnosis of mitochondrial disease, which was eventually established through second-generation DNA sequencing using biopsied muscle.CONCLUSION Based on this report, we suggest that clinicians pursue proper genetic testing for patients when the clinical phenotype is suggestive of mitochondrial diseases.展开更多
As an important geophysical tool,high density electrical technique infers the underground geological structures by processing and inverting the apparent resistivity data.Currently,the false anomalies have been frequen...As an important geophysical tool,high density electrical technique infers the underground geological structures by processing and inverting the apparent resistivity data.Currently,the false anomalies have been frequently occurred in the graph of apparent resistivity pseudo-section or inverted geoelectrical section obtained from high-density electrical technique,and are difficult to remove.In this study,the authors explain the mechanism of the false anomalies and put forward the horizontal differential field method to identify the false anomalies.Based on the analysis of modeling results,this method is applied in the surveying data in Xinlei Quarry of Jiuquan,and the results confirm the effectiveness of the horizontal differential field method.展开更多
基金Supported by the Socioeconomic Development Project of Dongguan Science and Technology Bureau,No.2016108101002
文摘BACKGROUND Mitochondrial diseases are a heterogenous group of multisystemic disorders caused by genetic mutations affecting mitochondrial oxidation function. Brain involvement is commonly found in most cases but rarely as the unique clinical manifestation. Since the knowledge of its clinical manifestation combined with genetic testing is important for preventing misdiagnosis and delay in treatment,we report here how we diagnosed and managed a very unusual case of mitochondrial encephalopathy.CASE SUMMARY We report a 52-year-old woman with recurrent stroke-like episodes carrying the m.10158 T>C mutation in the MT-ND3 gene, which is also responsible for fatal infant-onset Leigh syndrome. Despite the common mutation, the present case featured a distinct clinical and neuroimaging manifestation from Leigh syndrome. This patient presented with sudden onset of right-sided hemiparesis and hemilateral sensory disturbance accompanied by a left temporal cluster-like headache and later developed epilepsy during hospitalization, with no other signs suggestive of myopathy, lactate acidosis, or other systemic symptoms. Brain magnetic resonance imaging revealed variable lesions involving multiple cortical and subcortical regions. Furthermore, a negative genetic test obtained from peripheral blood delayed the diagnosis of mitochondrial disease, which was eventually established through second-generation DNA sequencing using biopsied muscle.CONCLUSION Based on this report, we suggest that clinicians pursue proper genetic testing for patients when the clinical phenotype is suggestive of mitochondrial diseases.
文摘As an important geophysical tool,high density electrical technique infers the underground geological structures by processing and inverting the apparent resistivity data.Currently,the false anomalies have been frequently occurred in the graph of apparent resistivity pseudo-section or inverted geoelectrical section obtained from high-density electrical technique,and are difficult to remove.In this study,the authors explain the mechanism of the false anomalies and put forward the horizontal differential field method to identify the false anomalies.Based on the analysis of modeling results,this method is applied in the surveying data in Xinlei Quarry of Jiuquan,and the results confirm the effectiveness of the horizontal differential field method.
