Clinical practice along with further trials will have to prove their value, along with other compounds that are still in their early phase of development.”
“The prevalence of fatty liver is rising not only in adults but also in children and adolescents. The authors describe the ultrastructure of 12 biopsies from 10 males and 2 females aged 7-18 years. All subjects had fatty liver by ultrasonography and were overweight or obese according to BMI classification. They all had elevated aminotransferases and/or lipid/cholesterol levels, ultimately confirmed by biopsy. Steatosis was mild in 2, moderate in 3, and severe in 7 cases. Nonalcoholic steatohepatitis was diagnosed in 7 and nonalcoholic
fatty liver disease in 5 patients. Lipolysosomes, identified in all 17-AAG 12 biopsies, were defined as fat droplets surrounded by a trilaminar membrane and lipofuscin-like deposits within or adjacent to the enveloping membrane. The lysosome marker CD68 revealed lysosomal activity in all lipolysosomes PD0332991 mw identified by electron microscopy. The ultrastructural features, here illustrated in diverse human biopsies, enabled lipolysosome classification in 3 types: monolocular (type I), multilocular (type II), and giant multilocular (type III). Type II, previously described in some conditions with abnormal lipid metabolism, was found in all biopsies, though with variable frequency. Type III was
observed only in severe steatosis and associated with prominent connective tissue and conspicuous lipofuscin deposits. These new findings demonstrate the presence of lipolysosomes
in a variety of fatty livers, in conditions hitherto unknown, in relation to the severity of steatosis, fibrogenic process, autophagy, lipolysis, and lipofuscin formation.”
“OBJECTIVE: To prospectively determine the diagnostic accuracy of massively parallel sequencing to detect whole chromosome fetal aneuploidy from maternal plasma.
METHODS: Blood samples were collected in a prospective, blinded study from 2,882 women undergoing prenatal diagnostic procedures at 60 U.S. sites. An independent biostatistician selected all singleton pregnancies with any abnormal karyotype and a balanced number of randomly selected pregnancies with euploid karyotypes. Chromosome classifications were made for each sample by massively parallel sequencing and compared with fetal karyotype.
RESULTS: Within an analysis cohort of Ipatasertib mw 532 samples, the following were classified correctly: 89 of 89 trisomy 21 cases (sensitivity 100%, 95% [confidence interval] CI 95.9-100), 35 of 36 trisomy 18 cases (sensitivity 97.2%, 95% CI 85.5-99.9), 11 of 14 trisomy 13 cases (sensitivity 78.6%, 95% CI 49.2-99.9), 232 of 233 females (sensitivity 99.6%, 95% CI 97.6 to more than 99.9), 184 of 184 males (sensitivity 100%, 95% CI 98.0-100), and 15 of 16 monosomy X cases (sensitivity 93.8%, 95% CI 69.8-99.8). There were no false-positive results for autosomal aneuploidies (100% specificity, 95% CI more than 98.5 to 100).