Correlation between retinal nerve fiber layer thickness and visual prognosis in patients of Leber Hereditary optic neuropathy with 11778 mutation / 国际眼科杂志(Guoji Yanke Zazhi)

@#AIM: To study the correlation between retinal nerve fiber layer(RNFL)thickness changes and long-term visual function in Leber hereditary optic neuropathy(LHON)patients with 11778 mutations, and evaluate the role of early RNFL thickness in predicting long-term visual function.<p>METHODS: A retrospective analysis with 44 eyes from 23 LHON patients who were diagnosed with 11778 G>A/ND4 mutations by mt-DNA sequencing were included. The patients were divided into two groups based on whether BCVA is above LogMAR 0.5(equivalent to 0.3 decimal,WHO Low Vision standard)or not at 30mo follow up. Then, when the RNFL data of the two groups of patients at each predetermined time point(course of disease)were obtained, the candidate cutoffs of RNFL thickness were obtained by comparing the mean RNFL thicknesses of the two groups. Based on the obtained candidate cutoff values, the eyes with different RNFL values were divided into two groups for statistical analysis to determine whether the cutoff values can be used to predict prognosis of BCVA and visual field. Finally, the earliest cutoff value of RNFL thickness that can predict both BCVA and visual field is the target value. <p>RESULTS: According to the distribution of mean RNFL values in the eyes of patients with different BCVA groups, the candidate cut-off values of RNFL were determined as: 130μm after 2mo, 100μm after 4mo, 80μm after 8mo, and 65μm after 12mo from onset. Further analysis revealed that the RNFL value exceeds 80μm of 8mo after onset can be a better cutoff value to distinguishes the long-term vision, and which can predict both MD and MS of visual field with good distinction(all <i>P</i><0.05). It was found that the long-term BCVA of 100% of the eyes with RNFL values less than 80μm after 8 months from onset was lower than LogMAR 0.5(equivalent to 0.3 decimal); while for eyes with RNFL thickness higher than 80μm after 8mo from onset, 31% of patients had vision greater than LogMAR 0.1(equivalent to 0.8 decimal), and only 34% of patients had long-term prognosis of low vision. In addition, the BCVA, MD and MS of visual field of the eyes with RNFL value exceeded 80μm were significantly better than those with eyes with RNFL less than 80μm.<p>CONCLUSION: In this study, whether the RNFL value exceeded 80μm after 8mo from onset can be used as the best predictive cut-off value for judging long-term BCVA and visual field.

Mitochondrial cardiomyopathy / 临床儿科杂志

Mitochondria are the energy factory of all the cells, the center of aerobic metabolism, and essential for the me-tabolism of cells. Mitochondrial cardiomyopathy refers to myocardial damage caused by mitochondrial dysfunction and is char-acterized by cardiac structural and (or) functional abnormalities. The typical clinical feature of mitochondrial cardiomyopathy is hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmias, noncompaction of left ventricular and heart failure. This article focuses on the pathophysiology, clinical manifestations and possible treatments of mitochondrial cardiomyopathy.

Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness / Prevalência de 15 mutações no DNA mitocondrial entre pacientes diabéticos tipo 2 com ou sem características clínicas de diabetes e surdez herdados maternalmente

The aim of the present study is to investigate the prevalence of ten described mitochondrial DNA (mtDNA) mutations in patients with type 2 diabetes, and search for new mutations in four mtDNA genes in a subgroup of patients with characteristics of maternally inherited diabetes and deafness (MIDD). These mutations were investigated in 407 type 2 diabetic patients without characteristics of mitochondrial diabetes ("classical" type 2 diabetes group) and in 38 type 2 diabetic patients with characteristics suggestive of MIDD. Through sequencing of four mtDNA genes in MIDD patients, we selected five others potentially pathogenic mutations that were also screened in the remaining patients. Overall, the frequency of the fifteen analyzed mutations was 36.84 percent in the MIDD group and 2.45 percent in the "classical" type 2 diabetes group (p < 0.001). In conclusion, our study reinforces the importance of mtDNA mutations in the pathogenesis of MIDD.

Os objetivos deste estudo foram investigar a prevalência de dez mutações conhecidas no DNA mitocondrial (mtDNA) em pacientes com diabetes tipo 2, e procurar por novas mutações em quatro genes mitocondriais em um subgrupo de pacientes com características de MIDD (Maternally Inherited Diabetes and Deafness). Estas mutações foram investigadas em 407 pacientes diabéticos tipo 2 sem características de diabetes mitocondrial (grupo de diabetes tipo 2 clássico) e em 38 pacientes com diabetes tipo 2 e com características sugestivas de MIDD. Através do seqüenciamento de quatro genes mitocondriais nos pacientes com MIDD, selecionou-se cinco outras mutações potencialmente patogênicas que também foram investigadas no restante dos pacientes. De uma forma geral, a freqüência total das 15 mutações analisadas foi de 36,8 por cento no grupo de pacientes com MIDD e de 2,4 por cento no grupo de diabetes tipo 2 clássico (p < 0,001). Em conclusão, nosso estudo reforça a importância de mutações mitocondriais na patogênese do MIDD.