High-Performance Flexible Single-Crystalline Silicon Nanomembrane Thin-Film Transistors with High‑<i>k</i> Nb₂O₅–Bi₂O₃–MgO Ceramics as Gate Dielectric on a Plastic Substrate

A novel method of fabricating flexible thin-film transistor based on single-crystalline Si nanomembrane (SiNM) with high-<i>k</i> Nb₂O₅–Bi₂O₃–MgO (BMN) ceramic gate dielectric on a plastic substrate is demonstrated in this paper. SiNMs are successfully transferred to a flexible polyethylene terephthalate substrate, which has been plated with indium-tin-oxide (ITO) conductive layer and high-<i>k</i> BMN ceramic gate dielectric layer by room-temperature magnetron sputtering. The BMN ceramic gate dielectric layer demonstrates as high as ∼109 dielectric constant, with only dozens of pA current leakage. The Si–BMN–ITO heterostructure has only ∼nA leakage current at the applied voltage of 3 V. The transistor is shown to work at a high current on/off ratio of above 10⁴, and the threshold voltage is ∼1.3 V, with over 200 cm²/(V s) effective channel electron mobility. Bending tests have been conducted and show that the flexible transistors have good tolerance on mechanical bending strains. These characteristics indicate that the flexible single-crystalline SiNM transistors with BMN ceramics as gate dielectric have great potential for applications in high-performance integrated flexible circuit

Ultra High-Resolution Gene Centric Genomic Structural Analysis of a Non-Syndromic Congenital Heart Defect, Tetralogy of Fallot

<div><p>Tetralogy of Fallot (TOF) is one of the most common severe congenital heart malformations. Great progress has been made in identifying key genes that regulate heart development, yet approximately 70% of TOF cases are sporadic and nonsyndromic with no known genetic cause. We created an ultra high-resolution gene centric comparative genomic hybridization (gcCGH) microarray based on 591 genes with a validated association with cardiovascular development or function. We used our gcCGH array to analyze the genomic structure of 34 infants with sporadic TOF without a deletion on chromosome 22q11.2 (n _male = 20; n _female = 14; age range of 2 to 10 months). Using our custom-made gcCGH microarray platform, we identified a total of 613 copy number variations (CNVs) ranging in size from 78 base pairs to 19.5 Mb. We identified 16 subjects with 33 CNVs that contained 13 different genes which are known to be directly associated with heart development. Additionally, there were 79 genes from the broader list of genes that were partially or completely contained in a CNV. All 34 individuals examined had at least one CNV involving these 79 genes. Furthermore, we had available whole genome exon arrays from right ventricular tissue in 13 of our subjects. We analyzed these for correlations between copy number and gene expression level. Surprisingly, we could detect only one clear association between CNVs and expression (<i>GSTT1</i>) for any of the 591 focal genes on the gcCGH array. The expression levels of <i>GSTT1</i> were correlated with copy number in all cases examined (r = 0.95, p = 0.001). We identified a large number of small CNVs in genes with varying associations with heart development. Our results illustrate the complexity of human genome structural variation and underscore the need for multifactorial assessment of potential genetic/genomic factors that contribute to congenital heart defects.</p></div

Correlation between copy number and gene expression of <i>GSTT1</i>.

<p><i>GSTT1</i> expression in tissue from the right ventricle of infants with TOF relative to controls. Pearson correlation coefficient; r = 0.95, p = 0.001.</p

Postnatal Identification of Trisomy 21: An Overview of 7,133 Postnatal Trisomy 21 Cases Identified in a Diagnostic Reference Laboratory in China

<div><p>This study describes the cytogenetic characteristics of 7,133 trisomy 21 (Tri21) identified from 247,818 consecutive postnatal cases karyotyped in a single reference laboratory in China for a period of 4 years. The average detection rate of Tri21 is 2.88% ranging from 3.39% in 2011 to 2.52% in 2014. The decreased detection rates over the years might reflect a possible impact of noninvasive prenatal testing applied rapidly in China and elective termination of affected pregnancies. 95.32% of the Tri21 karyotypes are standard Tri21, 4.53% are Robertsonian Tri21, and less than 1% are other Tri21 forms. There are more mosaic Tri21 in older children and adults, consistent with previous observations that clinical features in individuals with mosaic Tri21 are generally milder and easily missed during perinatal period. The male/female (M/F ratio) for the total 7,133 Tri21 cases and for the 6,671 cases with non-mosaic standard Tri21 are 1.50 and 1.53 respectively, significantly higher than the 0.93 for all the 247,818 cases we karyotyped, the 1.30 for the Down syndrome (DS) identified during perinatal period in China, and the 1.20 for the livebirth in Chinese population. In contrast, the mosaic standard Tri21 case has a significantly lower proportion of males when compared with the non-mosaic standard Tri21, indicating different underlying mechanisms leading to their formations. Opposite M/F ratios in different subtypes of ROB Tri21 were observed. A long list of rare or private karyotypes where Tri21 are concurrently present was identified. The large collection of Tri21 cases with a diversity of clinical findings and a wide age range allowed us to determine the frequency of the different karyotypes of Down syndrome in China, given the fact that this kind of national epidemiological data is lacking currently.</p></div

Total cases of mosaic/complex Robertsonian translocations (ROBs) detected in this study.

<p>Total cases of mosaic/complex Robertsonian translocations (ROBs) detected in this study.</p

Additional file 1 of Establishment of early diagnosis models for cervical precancerous lesions using large-scale cervical cancer screening datasets

Additional file 1. Other details of this study