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Inspired by Benjamini et al. (2010) and Windisch (2010), we consider the entropy of the random walk ranges Rnformed by the first nsteps of a random walk Son a discrete group. In this setting, we show the existence of hR:=limn→∞H(Rn)ncalled the asymptotic entropy of the ranges. A sample version of the above statement in the sense of Shannon (1948) is also proved. This answers a question raised by Windisch (2010). We also present a systematic characterization of the vanishing asymptotic entropy of the ranges. Particularly, we show that hR= 0 if and only if the random walk either is recurrent or escapes to negative infinity without left jump. By introducing the weighted digraphs Гnformed by the underlying random walk, we can characterize the recurrence property of Sas the vanishing property of the quantity limn→∞H(Γn)nwhich is an analogue of hR.

Rare earth doped 12CaO·7Al2O3(C12A7) glass-ceramics are one of attractive photonic materials due to their high transparency, high luminescent efficiency and eco-friendly nature. A series of C12A7 glasses with different Tb3+doping concentrations was prepared by aerodynamic levitation method. The C12A7:Tb glass-ceramics were obtained via in-situgrowth from the glasses with the identical chemical composition at 800 °C. The microstructure observation demonstrates that the elemental distributions of Ca and Al are homogeneous in the glass-ceramics and the grain size of C12A7 is 4–70 nm. The in-line transmittance of glass-ceramics reaches as high as 82% at 1500 nm. The emission spectra of the C12A7:Tb glass-ceramics present characteristic Tb3+emission peaks at 486 nm (5D4→7F6), 541 nm (5D4→7F5), 585 nm (5D4→7F4) and 621 nm (5D4→7F3). The photoluminescence lifetime of C12A7:0.3%Tb glass-ceramic is 1.9 ms. Compared with the emission intensity of the glasses, that of the glass-ceramics increases due to the reducing in concentration of oxygen vacancy associated with network forming (NWF) cations. The highly transparent C12A7:Tb glass-ceramics may be a promising candidate for green light source in solid state lighting.

Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a rare and severe disorder characterized by functional obstruction in the urinary and gastrointestinal tract. The molecular basis of this condition has been defined recently. Heterozygous variants in ACTG2, homozygous mutations in LMOD1, MYLK, and MYH9were related to the pathogenesis of the syndrome, which encodes proteins involved in the process of smooth muscle contraction, supporting a myopathic basis for the disease. Recent studies have identified homozygous or compound heterozygous variants in MYH11as a candidate gene of MMIHS. In this report, we described a nonconsanguineous Chinese family with three male fetuses affected with megacystis. Trio-targeted exome sequencing identified compound heterozygous variants, c.2051 G > A (p.R684H) and c.3540_3541delinsTT (p.(E1180D, Q1181Ter)), in MYH11(NM_001040114). The variants were inherited from the parents, respectively. Western blotting showed a marked decrease in MYH11protein in the proband’s umbilical cord tissue compared with the control sample. The study’s results confirmed that MYH11is a candidate gene for MMIHS with autosomal recessive (AR) inheritance and expanded the mutation spectrum for this clinical condition. Combining clinical phenotype with molecular diagnosis may enable the identification of candidate genes for potential monogenic diseases and facilitate accurate genetic counseling, informed decision-making, and prenatal diagnosis.

In this note we present a simple approach to SLLN. The original approach implicitly appeared in a joint work of Dvoretzky and Erdös in 1950, which was recorded by the first author in other co-works over sixty years later. We prove the redundancy of a condition in the previously recorded statement of the result, obtaining the current simpler one. [ABSTRACT FROM AUTHOR]

Purpose:Chromosomal microarray analysis is the gold standard for copy-number variant (CNV) detection in prenatal and postnatal diagnosis. We aimed to determine whether next-generation sequencing (NGS) technology could be an alternative method for CNV detection in routine clinical application.Methods:Genome-wide CNV analysis (>50?kb) was performed on a multicenter group of 570 patients using a low-coverage whole-genome sequencing pipeline. These samples were referred for chromosomal analysis; CNVs (i.e., pathogenic CNVs, pCNVs) were classified according to the American College of Medical Genetics and Genomics guidelines.Results:Overall, a total of 198 abortuses, 37 stillbirths, 149 prenatal, and 186 postnatal samples were tested. Our approach yielded results in 549 samples (96.3%). In addition to 119 subjects with aneuploidies, 103 pCNVs (74 losses and 29 gains) were identified in 82 samples, giving diagnostic yields of 53.2% (95% confidence interval: 45.8, 60.5), 14.7% (5.0, 31.1), 28.5% (21.1, 36.6), and 30.1% (23.6, 37.3) in each group, respectively. Mosaicism was observed at a level as low as 25%.Conclusions:Patients with chromosomal diseases or microdeletion/microduplication syndromes were diagnosed using a high-resolution genome-wide method. Our study revealed the potential of NGS to facilitate genetic diagnoses that were not evident in the prenatal and postnatal groups.Genet Med 18 9, 940–948.

Autophagy is an evolutionarily conserved process in eukaryotes that eliminates harmful components and maintains cellular homeostasis in response to a series of extracellular insults. However, these insults may trigger the downstream signaling of another prominent stress responsive pathway, the STAT3 signaling pathway, which has been implicated in multiple aspects of the autophagic process. Recent reports further indicate that different subcellular localization patterns of STAT3 affect autophagy in various ways. For example, nuclear STAT3 fine-tunes autophagy via the transcriptional regulation of several autophagy-related genes such as BCL2family members, BECN1, PIK3C3, CTSB, CTSL, PIK3R1, HIF1A, BNIP3,and microRNAs with targets of autophagy modulators. Cytoplasmic STAT3 constitutively inhibits autophagy by sequestering EIF2AK2 as well as by interacting with other autophagy-related signaling molecules such as FOXO1 and FOXO3. Additionally, the mitochondrial translocation of STAT3 suppresses autophagy induced by oxidative stress and may effectively preserve mitochondria from being degraded by mitophagy. Understanding the role of STAT3 signaling in the regulation of autophagy may provide insight into the classic autophagy model and also into cancer therapy, especially for the emerging targeted therapy, because a series of targeted agents execute antitumor activities via blocking STAT3 signaling, which inevitably affects the autophagy pathway. Here, we review several of the representative studies and the current understanding in this particular field.

The increasing number of disease-causing mutations demands a simple, direct, and cost-effective diagnostic genotyping technique capable of detecting multiple mutations. This study validated the efficacy of a novel melting curve analysis–based genotyping assay (MeltPro HBB assay) for 24 β-thalassemia mutations in the Chinese population. The diagnostic potential of this assay was evaluated in 1022 pretyped genomic DNA samples, including 909 clinical cases of β-thalassemia minor or major, using a double-blind analysis in a multicenter validation study. Reproducibility of the assay was 100%, and the limit of detection was 10 pg per reaction. All 24 β-thalassemia mutations were accurately genotyped, and β-thalassemia genotypes were correctly determined in all 1022 samples, yielding overall sensitivity and specificity of 100%. The concordance rate was 99.4% between this assay and the reference method. It was concluded that the MeltPro HBB assay is useful for reliable genotyping of multiple β-thalassemia mutations in clinical settings and may have potential as a versatile method for rapid genotyping of known mutations because of its high throughput, accuracy, ease of use, and low cost.

This study was conducted to explore whether acute lymphoblastic leukemia (ALL)-derived exosomes affect natural killer (NK) cells. Exosomes were isolated and identified from Jurkat cells and co-cultured with NK cells. Then, the cytotoxicity, viability, and release of perforin and granzyme B in NK92-MI cells were measured. PCR arrays were used to detect gene expression alterations in the transforming growth factor (TGF)-β pathway of NK92-MI cells treated or not treated with exosomes. The morphology and size of the exosomes isolated from Jurkat cells showed typical characteristics of exosomes, and the expression of cluster of differentiation 63 was detected. Jurkat-derived exosomes were internalized by NK92-MI cells, further inhibiting the proliferation and cytotoxicity of NK92-MI cells. An enzyme-linked immunosorbent assay revealed that the release of perforin and granzyme B from NK92-MI cells decreased after co-culture with exosomes. Similarly, western blot and immunofluorescence staining verified that Jurkat-derived exosomes inhibited the expression of granzyme B and perforin. Furthermore, Jurkat-derived exosomes enhanced the signaling of the TGF-β pathway in NK92-MI cells via the MDS1 and EVI1 complex loci and homeodomain interacting protein kinase 2. In conclusion, we found that ALL-derived exosomes inhibit the biological function of NK cells and provide support for the immunotherapy of ALL.

Bulk La2O3-Ga2O3-ZrO2(LGZ) glass and Tm3+/Yb3+co-doped LGZ glasses were synthesized successfully using containerless technique. Raman spectra result reveals that the matrix sample possesses the low highest phonon energy of ∼ 642 cm–1. The glasses show good compatibility between large Abbe numbers (>31) and high refractive indices (nd> 1.93). Moreover, transmittance measurements reflect the glasses have high infrared transmittance of ∼ 81.9%, small OH–absorption coefficient and long mid-infrared cut-off wavelengths (∼7.5 μm). The surface morphology of host glass was characterized by SEM micrograph and EDS tests reflect that the doped compositions are distributed into the matrix glass homogeneously. The results of thermal analysis show that the glasses have good thermal properties (Tg> 769 °C). Excited by 980 nm laser, an intense 1810 nm fluorescence is obtained originating from the transition: 3F4→ 3H6of Tm3+ion, accompanied by upconversion emission. It can be observed that 1810 nm fluorescence has the highest intensity at 1 mol% Yb2O3and owns broad full width at half-maximum (>245 nm), the luminescence intensity of 3F4→ 3H6transition increases with rising temperature from 300 to 550 K. Furthermore, the value of energy transfer efficiency shows that Yb3+can transfer energy to Tm3+effectively. By fitting the attenuation curves, the lifetimes of 1810 and 474 nm emission can be acquired.