Multi-color long-wave infrared perfect absorber based on a heavily doped semiconductor that is inverse-designed via machine learning.

Metamaterial perfect absorbers (MPAs) with high absorption, thin thickness, and custom-tailorable spectrum are in great demand in many applications, especially in photoelectric detectors. Presently, infrared (IR) focal plane array detectors based on type-II superlattice (T2SL) still face the challenge of a low absorption coefficient. Moreover, it is still difficult to integrate conventional metal-insulator-metal (MIM) MPA with a T2SL infrared detector, due to the incompatibility of fabrication processes.

CffDNA screening for Niemann-pick disease, type C1: a case series.

Cell-free fetal DNA (cffDNA) screening is a valuable tool in clinical practice for detecting chromosomal abnormalities and autosomal dominant (AD) conditions. This study introduces a novel proof-of-concept assay designed for autosomal recessive (AR) cffDNA screening, focusing on cases involving the NPC1 gene. We aim to illustrate the significant benefits of AR cffDNA screening in managing high-risk pregnancies, specifically where biallelic pathogenic variants in NPC1 cause Niemann-Pick disease, type C1 (NPC), a disorder marked by progressive neurodegeneration.

All-silicon polarization-independent broadband achromatic metalens designed for the mid-wave and long-wave infrared.

Metasurfaces demonstrate excellent capabilities in manipulating the phase, amplitude and polarization of light. Metalens, as a typical kind of metasurface devices, shows great prospect in simplifying imaging systems. However, like diffractive optical elements, intrinsic dispersion of metasurfaces is high.

Directional regulation and mechanism analysis of the surface properties of hydrothermal carbon by circulating liquid in the hydrothermal carbonization procedure.

The complexity of the chemistry behind the hydrothermal conversion is enormous. Components interact with their own physical and chemical structure, making it harsh to understand the conversion as a whole. Herein, the six-water recirculation and loading nano SiO experiment in a one-pot hydrothermal carbonization procedure was designed to elucidate the mechanism of regulating the functional groups and microporous structure of the hydrochar surface.

High-efficiency synthesis of Cu superfine particles via reducing cuprous and cupric oxides with monoethanolamine and their antimicrobial potentials.

Cuprous oxide (CuO) and cupric oxide (CuO) are widely available and low cost raw materials. Their applications as precursors for wet chemical synthesis of metallic Cu materials are greatly limited due to their insoluble in water and most organic solvents. In this work, copper superfine particles (Cu SPs) are synthesized using CuO and CuO as precursors via a heating process in monoethanoamine (MEA).

Snow Depth Estimation on Slopes Using GPS-Interferometric Reflectometry.

Snow is one of the most critical sources of freshwater, which influences the global water cycle and climate change. However, it is difficult to monitor global snow variations with high spatial-temporal resolution using traditional techniques due to their costly and labor-intensive nature. Nowadays, the Global Positioning System Interferometric Reflectometry (GPS-IR) technique can measure the average snow depth around a GPS antenna using its signal-to-noise ratio (SNR) data.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Background: Although mosaic variation has been known to cause disease for decades, high-throughput sequencing technologies with the analytical sensitivity to consistently detect variants at reduced allelic fractions have only recently emerged as routine clinical diagnostic tests. To date, few systematic analyses of mosaic variants detected by diagnostic exome sequencing for diverse clinical indications have been performed.

Methods: To investigate the frequency, type, allelic fraction, and phenotypic consequences of clinically relevant somatic mosaic single nucleotide variants (SNVs) and characteristics of the corresponding genes, we retrospectively queried reported mosaic variants from a cohort of ~ 12,000 samples submitted for clinical exome sequencing (ES) at Baylor Genetics.

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.

Current non-invasive prenatal screening is targeted toward the detection of chromosomal abnormalities in the fetus. However, screening for many dominant monogenic disorders associated with de novo mutations is not available, despite their relatively high incidence. Here we report on the development and validation of, and early clinical experience with, a new approach for non-invasive prenatal sequencing for a panel of causative genes for frequent dominant monogenic diseases.

Improving GNSS Ambiguity Acceptance Test Performance with the Generalized Difference Test Approach.

In Global navigation satellite system (GNSS) data processing, integer ambiguity acceptance test is considered as a challenging problem. A number of ambiguity acceptance tests have been proposed from different perspective and then unified into the integer aperture estimation (IA) framework. Among all the IA estimators, the optimal integer aperture (OIA) achieves the highest success rate with the fixed failure rate tolerance.

Coal tar pitch extract could induce chromosomal instability of human bronchial epithelial cells mediated by spindle checkpoint-related proteins.

Coal tar pitch (CTP) is a byproduct of coal tar distillation. The workers working with coal tar or in aluminum smelters, potrooms and carbon plants have the opportunities of exposing to coal tar pitch volatiles. Coal tar pitches from which polycyclic aromatic hydrocarbons (PAHs) originate have been shown to exhibit lung carcinogenicity in humans.

The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.

Purpose: To investigate pan-ethnic SMN1 copy-number and sequence variation by hybridization-based target enrichment coupled with massively parallel sequencing or next-generation sequencing (NGS).

Methods: NGS reads aligned to SMN1 and SMN2 exon 7 were quantified to determine the total combined copy number of SMN1 and SMN2. The ratio of SMN1 to SMN2 was calculated based on a single-nucleotide difference that distinguishes the two genes.

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

Purpose: When seeking a confirmed molecular diagnosis in the research setting, patients with one descriptive diagnosis of retinal disease could carry pathogenic variants in genes not specifically associated with that description. However, this event has not been evaluated systematically in clinical diagnostic laboratories that validate fully all target genes to minimize false negatives/positives.

Methods: We performed targeted next-generation sequencing analysis on 207 ocular disease-related genes for 42 patients whose DNA had been tested negative for disease-specific panels of genes known to be associated with retinitis pigmentosa, Leber congenital amaurosis, or exudative vitreoretinopathy.

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

Retinitis pigmentosa (RP) is the most common form of retinal dystrophy. The disease is characterized by the progressive degeneration of photoreceptors, ultimately leading to blindness. The exon ORF15 of RP GTPase regulator (RPGR) is a mutation hot spot for X-linked RP and one form of cone dystrophy.

Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations.

Mutations in the MUT gene, which encodes the mitochondrial enzyme methylmalonyl-CoA mutase, are responsible for the mut form of methylmalonic aciduria (MMA). In this study, a next generation sequencing (NGS) based gene panel was used to analyze 53 patients that had been diagnosed with mut MMA by somatic cell complementation analysis. A total of 54 different mutations in MUT were identified in 48 patients; 16 novel mutations were identified, including 1 initiation site mutation (c.

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Objective: To establish and evaluate the effectiveness of a comprehensive next-generation sequencing (NGS) approach to simultaneously analyze all genes known to be responsible for the most clinically and genetically heterogeneous neuromuscular diseases (NMDs) involving spinal motoneurons, neuromuscular junctions, nerves, and muscles.

Methods: All coding exons and at least 20 bp of flanking intronic sequences of 236 genes causing NMDs were enriched by using SeqCap EZ solution-based capture and enrichment method followed by massively parallel sequencing on Illumina HiSeq2000.

Results: The target gene capture/deep sequencing provides an average coverage of ∼1,000× per nucleotide.

Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.

Next generation sequencing (NGS) based gene panel testing is increasingly available as a molecular diagnostic approach for inborn errors of metabolism. Over the past 40 years patients have been referred to the Vitamin B12 Clinical Research Laboratory at McGill University for diagnosis of inborn errors of cobalamin metabolism by functional studies in cultured fibroblasts. DNA samples from patients in which no diagnosis was made by these studies were tested by a NGS gene panel to determine whether any molecular diagnoses could be made.

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Purpose: Next-generation sequencing (NGS) has been widely applied to clinical diagnosis. Target-gene capture followed by deep sequencing provides unbiased enrichment of the target sequences, which not only accurately detects single-nucleotide variations (SNVs) and small insertion/deletions (indels) but also provides the opportunity for the identification of exonic copy-number variants (CNVs) and large genomic rearrangements.

Method: Capture NGS has the ability to easily detect SNVs and small indels.

A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2.

Germline mutations in the DNA mismatch repair gene PMS2 underlie the cancer susceptibility syndrome, Lynch syndrome. However, accurate molecular testing of PMS2 is complicated by a large number of highly homologous sequences. To establish a comprehensive approach for mutation detection of PMS2, we have designed a strategy combining targeted capture next-generation sequencing (NGS), multiplex ligation-dependent probe amplification, and long-range PCR followed by NGS to simultaneously detect point mutations and copy number changes of PMS2.

ABCB1 C3435T polymorphism is associated with leukemia susceptibility: evidence from a meta-analysis.

Introduction And Objective: Many studies have been conducted on the association between the adenosine triphosphate-binding cassette, subfamily B, member 1 (ABCB1) gene C3435T polymorphism and leukemia risk, however, the previously published findings remain controversial. Thus, a meta-analysis was carried out to accurately evaluate the effect of this polymorphism on leukemia susceptibility.

Methods: A computerized literature search was conducted of PubMed, Elsevier database, the China National Knowledge Infrastructure database, and Wanfang Database, to find published case-control studies exploring the relationship between ABCB1 C3435T polymorphism and leukemia risk.

Expression of Helicobacter pylori hspA Gene in Lactococcus lactis NICE System and Experimental Study on Its Immunoreactivity.

Aim. The aim of this study was to develop an oral Lactococcus lactis (L. lactis) vaccine against Helicobacter pylori (H.

CYP3A5 ∗ 3 genetic polymorphism is associated with childhood acute lymphoblastic leukemia risk: A meta-analysis.

Background: Several studies have investigated the association between CYP3A5 FNx01 3 genetic polymorphism and acute lymphoblastic leukemia (ALL) risk in children, but have yielded controversial results. Therefore, we performed a meta-analysis to evaluate synthetically the effect of CYP3A5 FNx01 3 polymorphism on the risk of ALL in children.

Methods: Case-control studies investigating the relationship between CYP3A5 FNx01 3 genetic polymorphism and ALL risk in children were included.

Multidrug resistance gene 1 C1236T polymorphism and susceptibility to leukemia: A meta-analysis.

Several studies have investigated the association between multidrug resistance gene () C1236T polymorphism and leukemia risk, however, these published studies have yielded conflicting results. Thus, the present study carried out a meta-analysis to provide a more precise estimate of the effect of this polymorphism on the susceptibility to leukemia. The published case-control studies regarding the association between C1236T polymorphism and leukemia risk were included following a computerized search of PubMed, Elsevier, The Cochrane Library, China National Knowledge Infrastructure and Wanfang Database.