Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of childre...Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing(NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015. In our study, 40 cases of gene confirmed mitochondrial disease including eight kinds of mitochondrial disease, among which Leigh syndrome was identified to be the most common type, followed by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS). The age-of-onset varies among mitochondrial disease, but early onset was common. All of 40 cases were gene confirmed, among which 25 cases(62.5%)with mitochondrial DNA(mtDNA) mutation, and 15 cases(37.5%) with nuclear DNA(nDNA) mutation. M.3243A>G(n=7)accounts for a large proportion of mtDNA mutation. The nDNA mutations include SURF1(n=7),PDHA1(n=2),and NDUFV1,NDUFAF6, SUCLA2, SUCLG1, RRM2 B, and C12orf65, respectively.展开更多
1.The post code for the fourth address in the affiliation should be 050031.2.Three items are missing in the first row of Table 1.The correct form of the first row is as follows:3.The second "55%"in the fourt...1.The post code for the fourth address in the affiliation should be 050031.2.Three items are missing in the first row of Table 1.The correct form of the first row is as follows:3.The second "55%"in the fourth paragraph of DISCUSSION should be 50% 4."MLEAS"in the sixth paragraph of DISCUSSION should be MELAS.展开更多
THE HISTORY AND FRIENDSHIP BETWEEN BEIJING CHILDREN’S HOSPITAL AND THE JOHNS HOPKINS HOSPITAL The founder of modern pediatric medicine in China and the first president of Beijing Children’s Hospital(BCH),academician...THE HISTORY AND FRIENDSHIP BETWEEN BEIJING CHILDREN’S HOSPITAL AND THE JOHNS HOPKINS HOSPITAL The founder of modern pediatric medicine in China and the first president of Beijing Children’s Hospital(BCH),academician of Chinese Academy of Sciences,Prof.Fu-Tang Chu(Prof.Futang Zhu’s name was spelled as Fu-Tang Chu since early 1930s until 1964,later on as universal use of Chinese Phonetic Alphabet for people’s name,his name has been spelled as Futang Zhu),developed a close relationship with his mentor,Prof.Charles F.McKhann,when he studied and worked in Boston Children’s Hospital,the teaching hospital of Harvard Medical School in Boston in the early 1930s.He also became a good friend of Prof.Guy M.McKhann(son of Prof.Charles F.McKhann),the founder and the first director of neurology at the Johns Hopkins Hospital(JHH)years later.展开更多
文摘Mitochondrial disease was a clinically and genetically heterogeneous group of diseases, thus the diagnosis was very difficult to clinicians. Our objective was to analyze clinical and genetic characteristics of children with mitochondrial disease in China. We tested 141 candidate patients who have been suspected of mitochondrial disorders by using targeted next-generation sequencing(NGS), and summarized the clinical and genetic data of gene confirmed cases from Neurology Department, Beijing Children's Hospital, Capital Medical University from October 2012 to January 2015. In our study, 40 cases of gene confirmed mitochondrial disease including eight kinds of mitochondrial disease, among which Leigh syndrome was identified to be the most common type, followed by mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes(MELAS). The age-of-onset varies among mitochondrial disease, but early onset was common. All of 40 cases were gene confirmed, among which 25 cases(62.5%)with mitochondrial DNA(mtDNA) mutation, and 15 cases(37.5%) with nuclear DNA(nDNA) mutation. M.3243A>G(n=7)accounts for a large proportion of mtDNA mutation. The nDNA mutations include SURF1(n=7),PDHA1(n=2),and NDUFV1,NDUFAF6, SUCLA2, SUCLG1, RRM2 B, and C12orf65, respectively.
文摘1.The post code for the fourth address in the affiliation should be 050031.2.Three items are missing in the first row of Table 1.The correct form of the first row is as follows:3.The second "55%"in the fourth paragraph of DISCUSSION should be 50% 4."MLEAS"in the sixth paragraph of DISCUSSION should be MELAS.
文摘THE HISTORY AND FRIENDSHIP BETWEEN BEIJING CHILDREN’S HOSPITAL AND THE JOHNS HOPKINS HOSPITAL The founder of modern pediatric medicine in China and the first president of Beijing Children’s Hospital(BCH),academician of Chinese Academy of Sciences,Prof.Fu-Tang Chu(Prof.Futang Zhu’s name was spelled as Fu-Tang Chu since early 1930s until 1964,later on as universal use of Chinese Phonetic Alphabet for people’s name,his name has been spelled as Futang Zhu),developed a close relationship with his mentor,Prof.Charles F.McKhann,when he studied and worked in Boston Children’s Hospital,the teaching hospital of Harvard Medical School in Boston in the early 1930s.He also became a good friend of Prof.Guy M.McKhann(son of Prof.Charles F.McKhann),the founder and the first director of neurology at the Johns Hopkins Hospital(JHH)years later.
