A 59-year-old male patient was followed up for congestive heart failure. Echo cardiogram showed no abnormal findings other than a remarkable dilatation of the bilateral atria. The coronary arteries and left ventricular contraction were normal. Left ventricular endomyocardial biopsy showed no significant abnormal findings. Further, we examined his siblings using dynamic magnetic resonance imaging (MRI) and found that they all also had dilated bilateral atria. After several hospitalizations, the proband died from cardiogenic shock. Pathological findings showed nonspecific change in bilateral atria and ventricles. This is a very rare case of familial idiopathic dilatation of bilateral atria.
had no risk factors. he presented with fulminant septicemia and died 6 hours after hospital admission, despite appropriate supportive care and prompt antibiotic treatment. The second patient, an 8-year-old boy, had had recurrent meningitis. however, several clinical and biologic features are similar between the 2 series. We found a low rate of underlying conditions (17.6% versus 7.1%, P = 0.3). de Almeida Torres et al observed a broad diversity of emm types among GAS isolates recovered from patients with meningitis (9 emm types in 14 isolates). Among the 12 stains with available serotyping in our study, the emm types were emm1 (n = 4), emm6 (n = 3) and 1 case each of emm3, emm12, emm28, emm44 and emm102. Data from cerebrospinal fluid analysis were similar: median leukocyte count (1000 cells/mm 3 ), neutrophil proportion (79%) and protein and glucose values (1.2 g/L and 2.6 mmol/L, respectively). Comparing the 2 series in terms of microbiologic diagnosis would have been of interest. We found CSF positivity on Gram staining and culture in 57% and 85% of cases, respectively, and when CSF culture findings were negative, microbiologic diagnosis was based on positive blood culture and pleiocytosis (12%) and positive CSF PCR results (3%).We have compared clinical and biologic data for GAS meningitis and meningitis caused by other pathogens (data not shown) and found the data indistinguishable. The reason for the high mortality rate (43%) observed in the Brazil series when compared with the literature and with our series is not clear but could be because of differences in socioeconomic conditions, immunogenetics, health-care systems and access to medical care.In conclusion, we point to the wide differences in epidemiologic, clinical and outcome profiles of GAS meningitis between the 2 countries.
ACKNOWLEDGMENTSWe are grateful the following pediatricians and microbiologists:
Pathogenic mitochondrial DNA heteroplasmy has mainly been assessed with bulk sequencing in individuals with mitochondrial disease. However, the distribution of heteroplasmy at the single-cell level in skin fibroblasts obtained from individuals, together with detailed clinical and biochemical information, remains to be investigated. We used the mitochondrial DNA single-cell assay for the transposase-accessible chromatin sequencing method. Skin fibroblasts were obtained from six individuals with mitochondrial disease and pathogenic m.3243A>G variants of differing severity. Different distributions of heteroplasmy at the single-cell level were identified in skin fibroblasts from all six individuals. Four individuals with different outcomes showed similar averaged heteroplasmy rates with normal mitochondrial respiratory chain enzyme activity, while the distribution of single-cell heteroplasmy patterns differed among the individuals. This study showed different heteroplasmy distribution patterns at the single-cell level in individuals with the m.3243A>G variant, who had a similar averaged heteroplasmy rates with normal mitochondrial respiratory chain enzyme activity. Whether such different heteroplasmy distribution patterns explain the different clinical outcomes should be assessed further in future studies. Measuring heteroplasmy of pathogenic mitochondrial DNA variants at the single-cell level could be important in individuals with mitochondrial disease.Atsuko Imai-Okazaki and Kazuhiro R. Nitta contributed equally to this work.
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