Carrier Rate Research Articles

Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age

Objective: To determine the carrier frequency and hot-spot variants of a custom-designed expanded carrier screening (ECS) panel with 216 diseases (216-ECS panel) within a Chinese population of childbearing age. Methods: Whole-exome sequencing data from a cohort of 3 097 unrelated healthy individuals (including 1 424 couples) from Peking Union Medical College Hospital between January 2013 and December 2023 were analyzed. Totally 220 genes which inherited in a recessive manner of 216-ECS panel were included in the analysis. The analysis included variant carrier rate, gene carrier rate, cumulative carrier rate, at-risk couple rates, and variant spectrum. Results: (1) Pathogenic variants were identified in 1 472 (47.53%, 1 472/3 097) individuals, with an average of 0.65 pathogenic variants per individual. The rate of at-risk couples was 3.93% (56/1 424). (2) A total of 180 genes were identified, with 16 genes exhibiting a gene carrier rate of ≥1% and 33 genes having a rate of ≥0.5%, most of which were associated with inherited metabolic diseases. Noteworthy genes with higher gene carrier rates and high-frequency variants included GJB2: c.235del, PAH: c.728G>A, ATP7B: c.2333G>T, SLC26A4: c.919-2A>G, GALC: c.1901T>C, POLG: c.2890C>T, SLC22A5: c.1472C>G, USH2A: c.2802T>G, SLC25A13: c.852_855del, GAA: c.761C>T and c.752C>T. Conclusion: This study offers a focused analysis of carrier frequencies and hot-spot variants of 216 diseases of the ECS panel constructed by our laboratory among the Chinese population, laying a foundation for the development of ECS programs tailored to the Chinese population.

Clinical utility of expanded carrier screening in the preconception and prenatal population: A Chinese cohort study

ObjectivesTo evaluate the clinical utility of expanded carrier screening (ECS) in Chinese preconception and prenatal populations, focusing on carrier frequency and the impact on at-risk couples (ARCs). MethodsData from 6,298 Chinese individuals from 4,420 families who underwent a 149-gene ECS panel at a single center were analyzed. The prevalence of positive carriers and ARCs was determined, with follow-up on reproductive decisions and pregnancy outcomes for ARCs. ResultsOf the individuals screened, 2,673 (42.4 %) were carriers of at least one pathogenic or likely pathogenic variant, and 98 (2.22 %) ARCs were identified. GJB2-related deafness and Duchenne muscular dystrophy were the most common autosomal recessive (AR) and X-linked disorders. Screening the top 11 (gene carrier rate [GCR] ≥ 1/100), 22 (GCR ≥ 1/200), and 41 (GCR ≥ 1/331) AR genes could identify 53.5 %, 67.9 %, and 81.3 % of variants, respectively. The corresponding ratios for identified ARCs were 90.4 %, 94.0 %, and 100 %. Follow-up data from 80 ARCs indicated that 75.0 % (60/80) took significant action based on the ECS results. Additionally, four families (3.5 %, 4/115) were identified at risk for a second disease unrelated to their initial family monogenic history. ConclusionsThis study, representing the largest cohort of a moderate-sized ECS panel test in the Chinese population, demonstrates the clinical utility of ECS in both healthy individuals and those with a family history of monogenic disorders. The data obtained provide valuable insights for developing a Chinese-specific ECS panel. Tailored approaches are critical for wider adoption and successful routine application of ECS.

Construction of LDH-derived CoNiP modified W/Z-CdS homojunction for improved photocatalytic hydrogen evolution: Achieving broad solar light response and multiple phases charge transfer

Heterojunction engineering represents a robust strategy for accelerating carrier transfer, thereby enhancing the activity of photocatalytic hydrogen evolution. In this work, a series of innovative CoNiP@W/Z-CdS heterojunctions were prepared for the purpose of investigating the photocatalytic hydrogen evolution activity under visible light-driven. To achieve high efficiency, lamellar CoNiP was first synthesized through the phosphatisation of CoNi LDH precursor. Subsequently, the W/Z-CdS homojunction was in-situ grown on the CoNiP via the hydrothermal method, resulting in the formation of the CoNiP@W/Z-CdS homojunction/heterojunction. The hydrogen evolution rate of 3% CoNiP@W/Z-CdS composite reaches 60.6 mmol/g/h, which is 3.6 times, 7.0 times and 11.9 times higher than that of W/Z-CdS, W-CdS and Z-CdS, respectively. The enhanced photocatalytic performance of 3% CoNiP@W/Z-CdS can be attributed to the introduction of an ultra-thin CoNiP bimetallic phosphide as cocatalyst, which increases the specific surface area to provide a large number of active sites for the catalytic reaction, and broadens the absorption range of sunlight. In particular, the synergistic effect between homojunction and Schottky junction in 3% CoNiP@W/Z-CdS further accelerates separation and migration rate of double interfacial carriers, improving photocatalytic H2 rate. This work offers a new perspective for the rational design of three-phase binary photocatalysts with high activity and stability.

Prevalence of thalassaemia among childbearing-age Li and Han populations in Hainan Province.

Accurate epidemiological data are crucial for effective disease prevention and treatment. We conducted a large-scale survey to explore the thalassaemia prevalence and spectrum among the two major ethnic groups in Hainan Province. A total of 399,053 childbearing-age individuals of Li (n = 77,563) and Han(n = 321,490) ethnic groups were recruited from 18 cities and counties in Hainan, and their thalassemia genotypes were systematically screened and statistically analysed. This study revealed a significantly higher thalassaemia carrier rate in the Li (55.39%) than that in the Han (13.13%). Specifically, the carrier rate of α-thalassaemia was 46.39% in the Li and 10.02% in the Han. The predominant α-thalassaemia mutations were - α3.7 and - α42. in Li, whereas the main mutation were - SEA and - α4.2 in Han. For β-thalassaemia, the carrier rates were 1.68% in Li and 2.38% in Han, with CD41-42(-CTTT) the most prevalent mutation in both groups. The carrier rates of β-/α-compound thalassaemia were 7.32% in Li and 0.73% in Han. Additionally, there were regional differences in the distribution of thalassemia among the Li and Han within Hainan Province. Epidemiological characteristics and molecular spectrum of thalassaemia among the Li and Han ethnic groups in Hainan were revealed in this study. These findings can provide a scientific basis to develop and implement prevention strategies for thalassaemia in Hainan.

Homo-Nuclear Hetero-Atomic Conjugated Reticular Oligomers for Heterojunction: A Novel "Electron Medium" for Panel Photoelectrocatalysis.

A substantial challenge in employing covalent organic frameworks (COFs) for photoelectrochemical (PEC) water splitting lies in improving their solution-processability while concurrently facilitating the transfer of charges and mass to the catalytic sites. Herein, we synthesize a solution-processable conjugated reticular oligomers (CROs), and further embed ruthenium (Ru) into the CRO, forming a CRO-Ru with homo-nuclear hetero-atomic. Thereafter, CRO and CRO-Ru construct an organic-organic heterojunction membrane at the nanoscale. Thisdesign achieves perfect lattice matching, significantly reducing the energy barrier of mass transfer, and effectively lowering the recombination rate of charge carriers. The optimized photocathode, CuI/CRO-Bpy:CRO-Bpy-Ru-1:1+P3HT/SnO2/Pt, exhibits an efficiency of 111.0µAcm-2 at 0.4V versus a reversible hydrogen electrode (RHE). Compared with the original bulk COFs and CROs, the efficiency is significantly improved. The apparent improvements in charge carrier separation and transfer are responsible for the high PEC activity. In the heterojunction, the incorporation of CRO-Bpy-Ru with a longer excited-state lifetime and a substantial built-in electric field has effectively accelerated the photo-induced electron transfer from the conduction band (CB) of CRO-Bpy to the valence band (VB) of CRO-Bpy-Ru, effectively suppressing the recombination of charges. These findings offer significant guidance for the design and optimization of high-performance photoelectrochemical catalysts.

Interface induced photoluminescence enhancement from heterojunction BaMoO4/HEAs phosphors: Experiment, theory and anti-counterfeiting application

The BaMoO4/FeCoNiCrMo (BMO/HEA(Mo)), BMO/FeCoNiCrTi (HEA(Ti)) and BMO/FeCoNiCrTiAl (HEA(Al)) phosphors were synthesized by an integrated technology. The structural characterization showed that except the main lattice phase, only the characteristic peak of high-entropy alloys (HEAs) appeared in BMO/HEAs phosphors and the existence of lattice distortion for [MoO4]2- in BMO. The microstructure analysis confirmed that there is a special interface contact between BMO and HEAs, which makes the metal in HEAs easy to have a certain connection with BMO, which causes the lattice distortion of [MoO4]2- to intensify, thus accelerating the recombination rate of charge carriers in BMO/HEAs phosphors. The BMO/HEAs phosphors have a strong emission peak at 445 nm under the excitation wavelength of 285 nm. Theoretical calculations and experiments confirmed that the luminescence of BMO/HEAs phosphor is caused by the lattice distortion of [MoO4]2-, the interface defect of BMO/HEAs and the recombination of charge carriers. The Mo in HEA(Mo) can accelerate the recombination rate of charge carriers between BMO and HEAs, thus enhancing the luminescence performance of BMO/HEA(Mo) phosphor and exhibit dynamic fluorescence anti-counterfeiting applications. However, the Ti in HEA(Ti) and Al in HEA(Al) can easily separate the charge carriers between BMO and HEAs, thus reducing the luminescence of BMO/HEA(Ti) and BMO/HEA(Al) phosphors.

Lewis Acid Regulation Strategy for Constructing D-A-A Covalent Organic Frameworks with Enhanced Photocatalytic Organic Conversion.

Owing to their excellent photoelectric properties, donor-acceptor (D-A) type photocatalytic covalent organic frameworks (COFs) have attracted significant research interest in recent years. However, the limited D-A structural units of existing COFs restrict the development of novel and efficient photocatalytic COF materials. To solve this problem, we developed a series of D-A-A-type COFs utilizing a Lewis acid regulation strategy, in which Lewis acids act as the coordination centers, and pyridine and cyano groups act as ligands. Lewis acid sites in COFs serve as electron acceptors, facilitating the separation and transfer of photogenerated electron-hole pairs. This process is crucial for photocatalysis because it significantly increases the efficiency of the catalytic reaction by reducing the recombination rate of charge carriers. The developed Lewis acid-activated D-A-A COFs efficiently catalyzed the hydroxylation of various phenylboronic acid compounds under visible light. The developed catalysts are expected to contribute to increasing the fabrication efficiency of industrially important organic materials.

Recent innovations in engineering Zinc Oxide (ZnO) nanostructures for water and wastewater treatment: Pushing the boundaries of multifunctional photocatalytic and advanced biotechnological applications

Owing to its rapid advancement in nanotechnology, latest publications (recent 5 years) related to zinc oxide (ZnO) in various aspects and applications have been reviewed. Trend has shifted to the innovation of pristine ZnO nanostructures functionalized with elemental dopants and heterojunction to improve the photoactivities on micropollutant degradation and heavy metals removal as well as the antibacterial effect towards microorganisms. The fundamentals of improved photoactivities (i.e., low recombination rate of charge carrier and effective charge transfer) and enhanced antibacterial properties (i.e., dissolution of ions and generation of reactive oxygen species) are accentuated. Subsequently, a detailed examination is undertaken to elucidate the key impacts of ZnO on actual wastewater treatment systems. This review concludes with a consolidated overview on the recent advances of ZnO for environmental wastewater decontamination and the future prospects on tailoring ZnO based on their photocatalytic and antibacterial properties to match various expectations from practical applications while minimising the adverse impacts on surrounding environment.

Adrenaline Auto-Injectors for Preventing Fatal Anaphylaxis.

Anaphylaxis affects up to 5% of people during their lifetime. Although anaphylaxis usually resolves without long-term physical consequences, it can result in anxiety and quality of life impairment. Rarely and unpredictably, community anaphylaxis can cause rapid physiological decompensation and death. Adrenaline (epinephrine) is the cornerstone of anaphylaxis treatment, and provision of adrenaline autoinjectors (AAI) has become a standard of care for people at risk of anaphylaxis in the community. In this article, we explore the effectiveness of AAIs for preventing fatal outcomes in anaphylaxis, using information drawn from animal and human invivo studies and epidemiology. We find that data support the effectiveness of intravenous adrenaline infusions for reversing physiological features of anaphylaxis, typically at doses from 0.05 to 0.5 μg/kg/min for 1-2 h, or ~ 10 μg/kg total dose. Intramuscular injection of doses approximating 10 μg/kg in humans can result in similar peak plasma adrenaline levels to intravenous infusions, at 100-500 pg/mL. However, these levels are typically short-lived following intramuscular adrenaline, and pharmacokinetic and pharmacodynamic outcomes can be unpredictable. Epidemiological data do not support an association between increasing AAI prescriptions and reduced fatal anaphylaxis, although carriage and activation rates remain low. Taken together, these data suggest that current AAIs have little impact on rates of fatal anaphylaxis, perhaps due to a lack of sustained and sufficient plasma adrenaline concentration. Effects of AAI prescription on quality of life may be variable. There is a need to consider alternatives, which can safely deliver a sustained adrenaline infusion via an appropriate route.

Clinical significance of Spinal Muscular Atrophy carrier detection in Guangdong Province, China: Insights from quantitative polymerase chain reaction and multiplex ligation-dependent probe amplification analysis

ObjectiveThis study aimed to identify carriers of Spinal Muscular Atrophy (SMA) among 10,630 pregnant women in Guangdong Province and provide prenatal diagnoses for high-risk fetuses from carrier couples. The goal was to prevent the birth of children affected by SMA. We evaluated the effectiveness of quantitative PCR (qPCR) and multiplex ligation-dependent probe amplification (MLPA) in detecting deletions in the SMN1 gene, with MLPA as the reference standard. MethodsFluorescent qPCR was used for initial SMA carrier screening, followed by confirmatory testing with MLPA for all detected carriers. ResultsOf the 10,630 women screened, 219 were identified as carriers (2.06 % detection rate). This included 17 cases of heterozygous deletion of exon 7 (E7), 145 cases with deletions of both E7 and exon 8 (E8), and 57 cases of E8 deletion alone. The carrier rate for E7 heterozygous deletion was established at 1.5 %. Prenatal diagnosis for seven carrier couples revealed five fetuses as carriers and one affected by SMA. The diagnostic concordance between qPCR and MLPA was 100 %. ConclusionThe combined use of qPCR and MLPA is vital in identifying SMA carriers, allowing for early diagnosis and informed reproductive decisions. The high sensitivity and specificity of qPCR, matching MLPA, demonstrate its value in clinical settings for SMA screening and prenatal diagnosis. Our findings emphasize the critical importance of selecting precise diagnostic methods to enhance clinical outcomes in genetic screening programs.

Impact of COVID-19 health precautions on asymptomatic Streptococcus pyogenes carriage in palestinian children: a pre- and post-pandemic study

BackgroundStreptococcus pyogenes (Group A Streptococcus, GAS) is a significant pathogen that causes diverse infections, ranging from pharyngitis to severe invasive diseases. Asymptomatic carriage in children is pivotal for transmission. The COVID-19 pandemic’s health measures, including mask wearing and enhanced hand hygiene, likely influenced GAS transmission dynamics. This study evaluated the impact of these precautions on the prevalence of asymptomatic pharyngeal GAS carriage among schoolchildren in the southern West Bank, Palestine.MethodsThis cross-sectional study was conducted in two phases: pre-COVID-19 (November 2019–January 2020) and post-COVID-19 (November 2023–April 2024). Throat swabs were collected from 701 children (345 pre-COVID-19, 356 post-COVID-19) via cluster sampling. The samples were tested with the ABON Strep A rapid test and confirmed by culture. Sociodemographic, health, and household data were also collected. The statistical analyses included descriptive statistics, chi-square tests, and binary logistic regression.ResultsThe prevalence of asymptomatic pharyngeal GAS carriage declined from 15.7% pre-COVID-19 to 10.4% post-COVID-19 (p = 0.038). Significant reductions were observed among urban residents (23.5–10.1%, p = 0.003) and those from medium socioeconomic backgrounds (16.0–9.1%, p = 0.008). Compared with urban residents, rural residents had lower GAS carriage rates (adjusted OR = 0.505, p = 0.023). Carriage rates also decreased among children with frequent sore throats (17.6–7.3%, p = 0.007) and those using private wells (52.5–14.9%, p < 0.001). Higher BMI was a significant risk factor (adjusted OR = 17.68, p < 0.001), whereas frequent tooth brushing (adjusted OR = 0.055, p < 0.001) and hand washing (adjusted OR = 0.367, p < 0.001) were protective factors.ConclusionsCOVID-19-related health precautions were correlated with a significant reduction in asymptomatic GAS carriage among Palestinian children. These findings suggest that public health measures, such as mask wearing and hand hygiene, can influence the transmission of respiratory pathogens. Ongoing surveillance and targeted interventions are essential for managing GAS infections, particularly in resource-limited settings.

Advances in Factors Affecting ALDH2 Activity and its Mechanisms.

Aldehyde dehydrogenase 2 (ALDH2) is a mitochondrial enzyme primarily involved in the detoxification of alcohol-derived aldehyde and endogenous toxic aldehydes. It exhibits widespread expression across various organs and exerts a broad and significant impact on diverse acute cardiovascular diseases, including acute coronary syndrome, acute aortic dissection, hypoxic pulmonary hypertension, and heart failure. The ALDH2 rs671 variant represents the most prevalent genetic variant in East Asian populations, with carriage rates ranging from 30 to 50% among the Chinese population. Given its widespread presence in the body, the wide range of diseases it affects, and its high rate of variation, it can serve as a crucial tool for the precise prevention and treatment of acute cardiovascular diseases, while offering individualized medication guidance. This review aims to provide a comprehensive overview of the latest advancements in factors affecting ALDH2 activity, encompassing post-transcriptional modifications, modulators of ALDH2, and relevant clinical drugs.

Mechanism of Co3O4-TiO2 Nanocomposite Formation with Enhanced Photocatalytic Performance

TiO2 nanotubes are tubular structures that have garnered significant attention in materials science and engineering due to their unique properties and diverse applications. In this study, highly ordered and well aligned TiO2 nanotubes were successfully synthesized through anodization of Ti foil in ethylene glycol (C2H6O2) containing ammonium fluoride (NH4F) and hydrogen peroxide (H2O2) at 60 V for 30 minutes. The effectiveness of TiO2 as a photocatalyst under solar light is limited by its wide band gap and high recombination rate of charge carriers. To address these limitations, TiO2 nanotubes were modified with cobalt oxide. The resulting Co3O4-TiO2 nanocomposite was synthesized using a wet impregnation technique, aiming to enhance the photocatalytic performance of TiO2 nanotubes across a broader range of the solar spectrum. The formation of Co3O4-TiO2 nanocomposite is by immersing the TiO2 nanotubes in the metal salt precursor solution of Co(NO3)2 for a certain soaking period. The soaking cycle was repeated a few times to ensure the deposition of cobalt oxide nanostructures on the TiO2 nanotube samples. This diffusion interstitial process via wet impregnation was time dependent, which altered the amount of cobalt loaded on the nanotube's surface. The addition of cobalt significantly improved the photodegradation activity of the nanotubes under visible light, outperforming bare TiO2 nanotubes. This enhancement is likely due to the cobalt acting as shallow traps, which effectively promote the separation of photogenerated charge carriers.

B-203 Advancing Equity, Inclusion, and Diversity in Genetic Testing: Disparities in Detection Rates and Access to Carrier Screening Among 8,000 Patients Nationwide

Abstract Background Professional medical societies recommend that carrier screening for 113 different genetic disorders be offered during pregnancy or preconception to all individuals, regardless of ancestry, in order to provide more equitable opportunities for patients to ascertain their reproductive risks. In our clinical laboratory experience, however, the vast majority of healthcare providers continue to order carrier screening for only cystic fibrosis (CF), which is disproportionately common in white individuals of Northern European descent. Our highest volume CF screening test is performed on &amp;gt;10,500 diverse patients per year and utilizes a targeted genotyping array that detects &amp;gt;500 variants in CFTR and &amp;gt;1200 variants in &amp;gt;150 other pertinent genes. Here we report the inequities in diagnostic yield among our first 8,000 patients for whom only limited testing was ordered and examine the barriers to widespread adoption of more inclusive carrier screening. Methods Three carrier screening options (CF, CF+spinal muscular atrophy [SMA], CF+SMA+fragile X syndrome [FXS]+hemoglobinopathies) were ordered clinically and performed on DNA extracted from 8,000 whole blood samples from unique individuals utilizing a custom SNP array (Thermo Fisher GeneTitanTM platform) designed to detect &amp;gt;1700 pathogenic variants in 218 different genes. Data was retrospectively reviewed to determine overall detection rates for carriers of all recommended conditions vs. only the condition(s) included in the originally ordered service. Finally, reproductive health providers at nine different ordering sites across the U.S. were interviewed regarding their current carrier screening practices. Results Patients were referred for testing by 119 different clinical facilities. 98.1% (7847/8000) had CF-only testing ordered, 1.2% (99/8000) had CF+SMA testing ordered, and 0.68% (54/8000) had testing for CF+SMA+FXS+hemoglobinopathies ordered. 7.1% (568/8000) of patients had reportable variants in CFTR. Had CF+SMA testing been ordered on all 8,000 patients, however, the diagnostic yield would have been 8.9%. Of the patients who had CF-only or CF+SMA testing ordered, 11.9% (943/7946) were found to be carriers of hemoglobinopathies. Finally, had all 8000 patients had testing for all currently recommended targets on the panel, the diagnostic yield would have increased to 55% (4396/8000). Ordering providers at 9/50 different contacted sites agreed to interview requests. 100% (9/9) of respondents indicated that their patients experience significant disparities in access to carrier screening, and that the primary cause of these inequities was insufficient insurance reimbursement. 67% (6/9) of respondents indicated that &amp;gt;50% of their patient population identified as non-white and would have “very strongly” benefitted from “testing for other disorders beyond CF.” Conclusions Despite clinical practice guidelines urging for more population-neutral carrier screening, major gaps exist between what is recommended versus ultimately ordered. This significantly limits the clinical utility of testing, especially in patients from underrepresented backgrounds. Improved insurance coverage for more inclusive carrier screening is needed to help reduce such disparities.

Carrier rates of group A streptococci in Australian wet tropics and their impact on the clinical usefulness of throat swabs.

Rapid point-of-care tests (POCT) are likely to assist with the detection of group A streptococci (GAS), but their usefulness is determined by the presence of carriers of GAS. This is insufficiently explored in the wet tropics. This study included 77 patients attendingprimary care in the wet tropics complaining of a sore throat, and 49healthy controls. Carrier rates of GAS and the positive and negative etiological predictive values (P-EPV and N-EPV, respectively) of a POCT were calculated. The carrier rates were 8.3% among healthy children and 2.7% for adults. TheP-EPV for children was 71% (95%confidence interval [CI]: 0.0-100%) and for adults it was 85% (95% CI: 0.0-100%). The corresponding N-EPV was99% (95% CI: 95-100%) for children and99% (95% CI: 98-100%) for adults. N-EPV, ruling out GAS, was sufficiently high with narrow CIs to allow for defining a stopping rule to avoid unnecessary antibiotic prescribing.

Carrier rates of group A streptococci in Australian wet tropics and their impact on the clinical usefulness of throat swabs.

Rapid point-of-care tests (POCT) are likely to assist with the detection of group A streptococci (GAS), but their usefulness is determined by the presence of carriers of GAS. This is insufficiently explored in the wet tropics. This study included 77 patients attendingprimary care in the wet tropics complaining of a sore throat, and 49healthy controls. Carrier rates of GAS and the positive and negative etiological predictive values (P-EPV and N-EPV, respectively) of a POCT were calculated. The carrier rates were 8.3% among healthy children and 2.7% for adults. TheP-EPV for children was 71% (95%confidence interval [CI]: 0.0-100%) and for adults it was 85% (95% CI: 0.0-100%). The corresponding N-EPV was99% (95% CI: 95-100%) for children and99% (95% CI: 98-100%) for adults. N-EPV, ruling out GAS, was sufficiently high with narrow CIs to allow for defining a stopping rule to avoid unnecessary antibiotic prescribing.

High sensitivity and selectivity of h-BN/WO3 n-n heterojunction to triethylamine at low-temperature

Due to the unique properties of heterojunction interfaces, heterojunction materials have broad application prospects in gas sensors. In this work, a facile and economical two-step synthesis method was employed to fabricate h-BN/WO3 heterojunctions, exhibiting excellent performance in triethylamine (TEA) detection. The results indicate that compared to pure WO3 sensors, h-BN/WO3 sensors exhibit superior TEA sensing capabilities, with an excellent response of 281.45 to 20 ppm TEA at 100 °C, which is 3.4 times higher. Moreover, h-BN/WO3 sensors demonstrate favorable response times, low detection limits, and good stability. These significant enhancements are attributed to the increase in oxygen vacancies and the establishment of heterojunctions between h-BN and WO3. Heterojunctions can regulate the concentration and transport rate of charge carriers, as well as the interface potential barrier, thereby affecting the gas sensing processes. This work may promote the further development of sensing materials and the practical application of WO3 sensors in TEA detection.

Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy

Spinal muscular atrophy (SMA) is the second most common fatal genetic disease in infancy. It is caused by deletion or intragenic pathogenic variants of the causative gene SMN1, which degenerates anterior horn motor neurons and leads to progressive myasthenia and muscle atrophy. Early treatment improves motor function and prognosis in patients with SMA, but drugs are expensive and do not cure the disease. Therefore, carrier screening seems to be the most effective way to prevent SMA birth defects. In this study, we genetically analyzed 1400 samples using multiplex ligation-dependent probe amplification (MLPA) and quantitative polymerase chain reaction (qPCR), and compared the consistency of the results. We randomly selected 44 samples with consistent MLPA and qPCR results for comprehensive SMA analysis (CASMA) using a long-read sequencing (LRS)-based approach. CASMA results showed 100% consistency, visually and intuitively explained the inconsistency between exons 7 and 8 copy numbers detected by MLPA in 13 samples. A total of 16 samples showed inconsistent MLPA and qPCR results for SMN1 exon 7. CASMA was performed on all samples and the results were consistent with those of resampling for MLPA and qPCR detection. CASMA also detected an additional intragenic variant c.-39A>G in a sample with two copies of SMN1 (RT02). Finally, we detected 23 SMA carriers, with an estimated carrier rate of 1/61 in this cohort. In addition, CASMA identified the “2 + 0” carrier status of SMN1 and SMN2 in a family by analyzing the genotypes of only three samples (parents and one sibling). CASMA has great advantages over MLPA and qPCR assays, and could become a powerful technical support for large-scale screening of SMA.

Construction of a novel Z-scheme FeTiO3/MOF-derived In2S3 catalyst for visible-light-driven photo-Fenton degradation of pollutants

The rapid recombination rate of photoexcited carriers for iron titanate (FeTiO3) is still limited the process performance of photo-Fenton. This article reports the successful synthesis of the highly efficient Z-scheme FeTiO3/MOF-derived In2S3 photocatalyst using the hydrothermal method, compensating for the susceptibility of FeTiO3 photo-generated carriers to complexation to a certain extent. A series of characterization have been carried out to explore the structure, morphology and composition of FeTiO3/MOF-derived In2S3 heterostructure. The 0.5 FeTiO3/MOF-derived In2S3 exhibits the excellent photo-Fenton performance for TCH, Cr6+ and OTC, the degradation rate constants (k2) are up to 0.6297 L·mg−1·min−1, 1.332 L·mg−1·min−1, and 0.427 L·mg−1·min−1, respectively. Active species capture experiments and electron paramagnetic resonance (EPR) spectra show that photo-generated holes (h+) and superoxide radicals (·O2-) are present in the photo-Fenton system. The superior photo-Fenton performance is mainly manifested in the following: the MOF-derived In2S3 micro-floral carrier extends the reaction interface of 0.5 FM-I; FeTiO3 effectively enhances the photo-absorption ability of 0.5 FM-I in visible range; the construction of Z-scheme FeTiO3/MOF-derived In2S3, forming the new carriers transport channels and enhancing the generation of ·O2- and ·OH. This experimental exploration provided a reasonable experimental basis for the preparation of efficient photocatalysts.

The Role of Firearm and Police Violence Exposure in Youth Firearm Beliefs and Access

Rates of youth firearm exposure and carriage are well-established, but less work has examined how exposure to police violence and firearm violence, as victim or witness, may be associated with beliefs in gun ownership for society or access to guns. This study used survey data from a multiracial sample of 276 youth living in New Orleans, Louisiana ( M age = 17.76) to examine these associations. Results from binary logistic regressions confirmed a significant association between higher belief in gun ownership for safety and all violence exposures, directly and indirectly. We did not find support for an association between gun access and any violence exposures. The findings shed light on pathways to firearm violence risk and provide critical information on youth firearm attitudes.