Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay.

BACKGROUND: Thalassemia is a common genetic disorder in southwestern China, and an increasing number of cases from eastern China have been recently reported. Here, we developed a rapid, convenient, and accurate assay to evaluate the mutation spectrum of thalassemia in eastern China. METHODS: A carrier screening assay for 61 hotspot variants among HBA1/HBA2 and HBB (OMIM: 141800, 141850, and 141900) genes was developed by SNaPshot/high-throughput ligation-dependent probe amplification (HLPA) technology. We used this assay to detect the mutation spectrum of thalassemia in individuals from eastern China and compared with the data collected from literatures focused on southern and northern China for variant distribution. RESULTS: Among 4276 tested individuals, 2.62% (112/4276) were α-thalassemia carriers, with 90 carrying one deletion or mutation and 22 carrying two deletions. 0.40% (17/4276) were ß-thalassemia carriers, and the most common variant of ß-thalassemia was c.126_129delCTTT (29.41%) followed by c.316-197C>T (23.53%). The genotype distribution in our study was similar to those from southern China populations. CONCLUSION: The Chinese population from different regions presented comparable mutation spectrum of thalassemia, and the SNaPshot/HLPA technique may serve as a capable assay for a routine genetic test in clinical practice with its accurate, rapid, and inexpensive advantage.

Iron(III)-(1,10-Phenanthroline) Complex Can Enhance Ferrate(VI) and Ferrate(V) Oxidation of Organic Contaminants via Mediating Electron Transfer.

Recent research has primarily focused on the utilization of reductants as activators for Fe(VI) to generate high-valent iron species (Fe(IV)/Fe(V)) for the degradation of emerging organic contaminants (EOCs). However, a significant drawback of this approach arises from the reaction between reductants and ferrates, leading to a decrease in oxidation capacity. This study introduces a novel discovery that highlights the potential of the iron(III)-(1,10-phenanthroline) (Fe(III)-Phen) complex as an activator, effectively enhancing the degradation of EOCs by Fe(VI) and augmenting the overall oxidation capacity of Fe(VI). The degradation of EOCs in the Fe(VI)/Fe(III)-Phen system is facilitated through two mechanisms: a direct electron transfer (DET) process and electron shuttle action. The DET process involves the formation of a Phen-Fe(III)-Fe(VI)* complex, which exhibits a stronger oxidation ability than Fe(VI) alone and can accept electrons directly from EOCs. On the other hand, the electron shuttle process utilizes Fe(III)-Phen as a redox mediator to transfer electrons from EOCs to Fe(VI) through the Fe(IV)/Fe(III) or Fe(IV)/Fe(II)/Fe(III) cycle. Moreover, the Fe(III)-Phen complex can improve the utilization efficiency of Fe(V) by preventing its self-decay. This study's findings may present a viable option for utilizing an effective catalyst to enhance the oxidation of EOCs by Fe(VI) and Fe(V).

Design-driven regional industry transformation and upgrading under the perspective of sustainable development.

This study combines relevant theories and methods from economics and ecology to investigate design-driven transformation and upgrade paths for the long-term success of regional industries in the context of sustainable transformation, drawing on the design research literature's emphasis on sustainability, synergy, and a systemic approach. This evaluation may be thought of as a precondition for transformation. The regional industrial base dictates the upgrading route for sustainable transformation. Huaihua, a prefecture-level city in Hunan Province, China, serves as a case study for this investigation. Huaihua City's ecological footprints, human development index, and ecological welfare performance are used to evaluate the region's industrial base. A system based on quantitative data criteria and hierarchical analysis was built to choose top regional industries. The design study has promising implications for the sustainable transformation of major regional industries since it is an interdisciplinary, collaborative, and methodical type of research. Huaihua City, as a representative region of the less developed southwest region in China, designs a sustainable industrial transformation and upgrading path by providing a theoretical basis and quantitative measurement criteria for the sustainable transformation of regional industries.

Selective Removal of Emerging Organic Contaminants from Water Using Electrogenerated Fe(IV) and Fe(V) under Near-Neutral Conditions.

Fe(IV) and Fe(V) are promising oxidants for the selective removal of emerging organic contaminants (EOCs) from water under near-neutral conditions. The Fe(III)-assisted electrochemical oxidation system with a BDD anode (Fe(III)-EOS-BDD system) has been employed to generate Fe(VI), while the generation and contributions of Fe(IV) and Fe(V) have been largely ignored. Thus, we examined the feasibility and involved mechanisms of the selective degradation of EOCs in the Fe(III)-EOS-BDD system under near-neutral conditions. It was found that Fe(III) application selectively accelerated the electro-oxidation of phenolic and sulfonamide organics and made the oxidation system be resistant to interference from Cl-, HCO3-, and humic acid. Several lines of evidence indicated that EOCs were decomposed via direct electron-transfer process on the BDD anode and by Fe(IV) and Fe(V) but not Fe(VI), besides HO•. Fe(VI) was not generated until the exhaustion of EOCs. Furthermore, the overall contributions of Fe(IV) and Fe(V) to the oxidation of phenolic and sulfonamide organics were over 45%. Our results also revealed that Fe(III) was oxidized primarily by HO• to Fe(IV) and Fe(V) in the Fe(III)-EOS-BDD system. This study advances the understanding of the roles of Fe(IV) and Fe(V) in the Fe(III)-EOS-BDD system and provides an alternative for utilizing Fe(IV) and Fe(V) under near-neutral conditions.

Construction of ZnIn2S4/MOF-525 heterojunction system to enhance photocatalytic degradation of tetracycline.

Zirconium-based porphyrin metal organic frameworks (Zr-PMOFs) had attracted attention in the field of photocatalysis in recent years. However, the recombination of photogenerated carriers of monomer PMOF limits its performance of photocatalytic organic pollutants degradation. Metal sulfide has a suitable visible band gap, which can form a heterojunction with MOF materials to enhance the photocatalytic efficiency of MOF. Therefore, a typical metal sulfide semiconductor ZnIn2S4 (ZIS) was introduced into a Zr-MOF (MOF-525) by solvothermal method to prepare a series of ZIS/MOF-525 (ZIS/MOF-525-1, ZIS/MOF-525-2, ZIS/MOF-525-3 and ZIS/MOF-525-4) composite photocatalysts in this work. The results of characterization analysis, optical analysis and electrochemical analysis showed that the interface of ZIS/MOF-525 formed a typical type-II heterojunction, which accelerated the electron transport rate and effectively inhibited the recombination of photogenerated e- and h+ in MOF-525. The optimal removal efficiency of tetracycline (TC) by ZIS/MOF-525-3 (the mass of MOF-525 is 30 mg) reached 93.8% under 60 min visible light illumination, which was greater than that of pure MOF-525 (37.2%) and ZnIn2S4 (70.0%), and it still maintained good stability after five cycles reusing experiment. This work provides feasible insight for the preparation of novel and efficient PMOF-based photocatalysts in the future.

Loss of SUN1 function in spermatocytes disrupts the attachment of telomeres to the nuclear envelope and contributes to non-obstructive azoospermia in humans.

One of the most severe forms of infertility in humans, caused by gametogenic failure, is non-obstructive azoospermia (NOA). Approximately, 20-30% of men with NOA may have single-gene mutations or other genetic variables that cause this disease. While a range of single-gene mutations associated with infertility has been identified in prior whole-exome sequencing (WES) studies, current insight into the precise genetic etiology of impaired human gametogenesis remains limited. In this paper, we described a proband with NOA who experienced hereditary infertility. WES analyses identified a homozygous variant in the SUN1 (Sad1 and UNC84 domain containing 1) gene [c. 663C > A: p.Tyr221X] that segregated with infertility. SUN1 encodes a LINC complex component essential for telomeric attachment and chromosomal movement. Spermatocytes with the observed mutations were incapable of repairing double-strand DNA breaks or undergoing meiosis. This loss of SUN1 functionality contributes to significant reductions in KASH5 levels within impaired chromosomal telomere attachment to the inner nuclear membrane. Overall, our results identify a potential genetic driver of NOA pathogenesis and provide fresh insight into the role of the SUN1 protein as a regulator of prophase I progression in the context of human meiosis.

Peroxymonosulfate and peroxydisulfate activation by fish scales biochar for antibiotics removal: Synergism of N, P-codoped biochar.

Social development is accompanied by technological progress, which commonly leads to the expansion of pollution As an essential resource of modern medical treatment, antibiotics have become a hot topic in the aspect of environmental pollution. In this study, we first used fish scales to synthesize N, P-codoped biochar catalyst (FS-BC) as peroxymonosulfate (PMS) and peroxydisulfate (PDS) activator to degrade tetracycline hydrochloride (TC). At the same time, peanut shell biochar (PS-BC) and coffee ground biochar (CG-BC) were prepared as reference materials. Among them, FS-BC exhibited the best catalytic performance due to the excellent defect structure (ID/IG = 1.225) and the synergism of N, P heteroatoms. PS-BC, FS-BC and CG-BC achieved degradation efficiencies of 86.26%, 99.71% and 84.41% for TC during PMS activation and 56.79%, 93.99% and 49.12% during PDS, respectively. In both FS-BC/PMS and FS-BC/PDS systems, non-free radical pathways involved singlet oxygen (1O2), surface-bound radicals mechanism and direct electron transfer mechanism. Structural defects, graphitic N and pyridinic N, P-C groups and positively charged sp2 hybridized C adjacent to graphitic N were all critical active sites. FS-BC has the potential for practical applications and development because of its robust adaptation to pH and anions and stable re-usability. This study not only provides a reference for biochar selection, but also suggests a superior strategy for TC degradation in the environment.

Current attitudes toward carrier screening for spinal muscular atrophy among pregnant women in Eastern China.

Spinal muscular atrophy (SMA) is an autosomal recessive and often fatal neurological disease. However, very little is known about the attitudes toward SMA carrier screening among Chinese pregnant people. In this study, pregnant women in Eastern China who were undergoing routine chromosomal screening programs were invited to view an educational video about SMA and complete a 26-item survey regarding their attitudes toward SMA screening by scanning a specific quick response code. A total of 1673 questionnaires were collected, and 81.1% of respondents were willing to undergo self-funded screening. If the screening program were included in the medical insurance, 97.8% of respondents were willing to accept screening. The important reasons for supporting SMA screening were a belief that it could help them make better reproductive decisions and avoid having a child with SMA. The key reason for declining SMA screening was not having a family history of genetic diseases. A higher score for SMA genetics knowledge was associated with a greater willingness to undergo SMA screening. We concluded that pregnant women in Eastern China had positive attitudes toward SMA carrier screening. Improving genetic knowledge and including the screening program in medical insurance would support the widespread implementation of SMA carrier screening. Steps should be taken to offer SMA carrier screening along with pre- and posttest education and genetic counseling to raise awareness and reduce misconceptions regarding SMA.

Dual redox cycles of Mn(â ¡)/Mn(III) and Mn(III)/Mn(IV) on porous Mn/N co-doped biochar surfaces for promoting peroxymonosulfate activation and ciprofloxacin degradation.

Mn and N co-doped biochar (Mn-N-TS) was prepared as an effective catalyst to activate peroxymonosulfate (PMS) for ciprofloxacin (CIP) degradation. As opposed to Mn-TS and N-TS, Mn-N-TS had more active sites containing N and Mn, as well as a greater specific surface area (923.733 m2 g-1). The Mn-N-TS exhibited excellent PMS activation ability. In the Mn-N-TS/PMS system, the CIP removal efficiency was 91.9% in 120 min. Mn and N co-doping could accelerate electron transfer between CIP and PMS molecules. Simultaneously, defect sites, graphitic N, pyridinic N, C═O groups, and Mn(II)/Mn(III)/Mn(IV) redox cycles acted as active sites to activate PMS and generate free radicals (OH, SO4- and 1O2). Furthermore, the Mn-N-TS/PMS system could effectively degrade CIP in a wide pH range, background substances, and actual water. Finally, a probable mechanism of PMS activation by Mn-N-TS was proposed. In conclusion, this work gave a novel direction for the rational design of Mn and N co-doped biochar.

Construction of a novel S-scheme heterojunction piezoelectric photocatalyst V-BiOIO3/FTCN and immobilization with floatability for tetracycline degradation.

A high-performance piezoelectric photocatalyst (V-BiOIO3/FTCN) was constructed to improve removal efficiency of tetracycline hydrochloride (TCH). The role of V-BiOIO3 in the composite was to introduce piezoelectric effect and construct S-scheme heterojunction photocatalyst with fish scale tubular carbon nitride (FTCN). The morphology, structure, chemical composition and optoelectronic characteristics of the as-prepared photocatalysts were studied by SEM, TEM, XRD, XPS and UV-Vis DRS. Combined with UV-Vis DRS, XPS valence band, Mott-schottky curve and theoretical calculations, the mechanism of TCH degradation was deeply analyzed. A series of degradation experiments showed that the V-BiOIO3/FTCN could effectively degrade TCH, and the removal efficiency was further improved under the action of ultrasound. Importantly, the further immobilized V-BiOIO3/FTCN/MS could float on the water surface to degrade TCH without additional stirring, which facilitated the recovery of photocatalysts and showed excellent practical application value. This work provided a reference for the design and immobilization of carbon nitride-based piezoelectric photocatalysts.

Fate and transformation of iodine species during Mn(VII)/sulfite treatment in iodide-containing water.

During oxidative treatment of iodide (I- )-containing waters, I- is easy to be oxidized into hypoiodous acid (HOI) by various oxidants and the further reaction of HOI with organic compounds can lead to the formation of iodinated disinfection by-products (I-DBPs). Oxidation of HOI to iodate (IO3 - ) or reduction of HOI to I- has been proposed to reduce the formation of I-DBPs. Because the reaction of HOI with sulfite proceeds rapidly, this study examined the fate of iodine and the formation of I-DBPs in Mn(VII)/sulfite process. Results showed that I- was oxidized to HOI but the further formation of IO3 - was suppressed due to the fast reduction of HOI to I- by sulfite. The reactions of HOI with SO3 2- and IO- with SO3 2- are the major pathways with species-specific second-order rate constants determined to be 1.12 × 105 M-1 s-1 and 9.43 × 107 M-1 s-1 , respectively. The rapid reaction of HOI with sulfite plays an essential role in minimizing the formation of iodinated products in HOI- and phenol-containing solutions. The toxic risk analysis showed that the toxicity of the generated DBPs from Mn(VII)/sulfite pre-oxidation followed by chlorination only changed slightly. PRACTITIONER POINTS: The decay of I- was negligible in Mn(VII)/sulfite process. The rapid reaction of HOI with SO3 2- resulted in the negligible generation of IO3 - . Mn(VII)/sulfite process exerted slight influence on the formation of I-DBPs. Mn(VII)/sulfite process is promising for the pretreatment of I- -containing water.

Application of multiplex competitive PCR combined with capillary electrophoresis in carrier screening of spinal muscular atrophy.

Spinal muscular atrophy (SMA) is an autosomal recessive, fatal neurological disorder in children. The pathogenic gene of SMA is survival motor neuron1 (SMN1). There are many methods to detect SMN1 gene copy number, but few techniques are suitable for large-scale population screening. In order to find a rapid and accurate experimental technique for mass screening of SMA carriers in the population, the SMN1 gene copy number of 12 SMA patients and their parents was analyzed by multiplex competitive PCR combined with capillary electrophoresis. Meanwhile, the copy number of SMN1 gene in 151 healthy pregnant women in Jiangsu was screened with the MLPA technology to confirm their copy number of the SMN genes. The results showed that the 12 SMA patients had 0 copy of SMN1 gene, and all their parents had 1 copy of SMN1 gene only. Among 151 healthy subjects, 3 cases (2.0%) had 1 copy of SMN1 gene, and hence designated as SMA carriers. One hundred and thirty-four cases (88.7%) had 2 copies of the SMN1 gene. There were 14 cases (9.3%) with more than 2 copies of the SMN1 gene. Therefore, multiplex competitive PCR combined with capillary electrophoresis is a rapid, simple and accurate method for the detection of SMA carriers; and potentially applicable to mass screening of SMA carriers in the population.

Degradation of Organic Contaminants by Reactive Iron/Manganese Species: Progress and Challenges.

Many iron(II, III, VI)- and manganese(II, IV, VII)-based oxidation processes can generate reactive iron/manganese species (RFeS/RMnS, i.e., Fe(IV)/Fe(V) and Mn(III)/Mn(V)/Mn(VI)), which have mild and selective reactivity toward a wide range of organic contaminants, and thus have drawn significant attention. The reaction mechanisms of these processes are rather complicated due to the simultaneous involvement of multiple radical and/or nonradical species. As a result, the ambiguity in the occurrence of RFeS/RMnS and divergence in the degradation mechanisms of trace organic contaminants in the presence of RFeS/RMnS exist in literature. In order to improve the critical understanding of the RFeS/RMnS-mediated oxidation processes, the detection methods of RFeS/RMnS and their roles in the destruction of trace organic contaminants are reviewed with special attention to some specific problems related to the scavenger and probe selection and experimental results analysis potentially resulting in some questionable conclusions. Moreover, the influence of background constituents, such as organic matter and halides, on oxidation efficiency of RFeS/RMnS-mediated oxidation processes and formation of byproducts are discussed through their comparison with those in free radicals-dominated oxidation processes. Finally, the prospects of the RFeS/RMnS-mediated oxidation processes and the challenges for future applications are presented.

The effects of biochar on antibiotic resistance genes (ARGs) removal during different environmental governance processes: A review.

Antibiotic resistance genes (ARGs) pollution has been considered as one of the most significant emerging environmental and health challenges in the 21st century, many efforts have been paid to control the proliferation and dissemination of ARGs in the environment. Among them, the biochar performs a positive effect in reducing the abundance of ARGs during different environmental governance processes and has shown great application prospects in controlling the ARGs. Although there are increasing studies on employing biochar to control ARGs, there is still a lack of review paper on this hotspot. In this review, firstly, the applications of biochar to control ARGs in different environmental governance processes were summarized. Secondly, the processes and mechanisms of ARGs removal promoted by biochar were proposed and discussed. Then, the effects of biochar properties on ARGs removal were highlighted. Finally, the future prospects and challenges of using biochar to control ARGs were proposed. It is hoped that this review could provide some new guidance for the further research of this field.

Carbon nanotube-based materials for persulfate activation to degrade organic contaminants: Properties, mechanisms and modification insights.

Removal of harmful organic matters from environment has great environmental significance. Carbon nanotube (CNT) materials and their composites have been demonstrated to possess excellent catalytic activity towards persulfate (PS) activation for the degradation of organic contaminants. Herein, detailed information concerning the function, modification methods and relevant mechanisms of CNT in persulfate-based advanced oxidation processes (PS-AOPs) for organic pollutant elimination has been reviewed. The activation mechanism of PS by CNT might include radical and nonradical pathways and their synergistic effects. The common strategies to improve the stability and catalytic capability of CNT-based materials have also been put forward. Furthermore, their practical application potential compared with other catalysts has been described. Finally, the challenges faced by CNT in practical application are clearly highlighted. This review should be of value in promoting the research of PS activation by CNT-based materials for degradation of organic pollutants and the corresponding practical applications.

Reinvestigation of the oxidation of organic contaminants by Fe(VI): Kinetics and effects of water matrix constituents.

Since previous studies mostly ignored the contributions of Fe(IV) and Fe(V) during the determination of reaction rate constants of ferrate (Fe(VI)) with trace organic contaminants (TrOCs), the intrinsic oxidation ability of Fe(VI) was overestimated. For the first time, this study systemically evaluated the reactivity of Fe(VI) towards four kinds of TrOCs by blocking Fe(IV)/Fe(V) over the TrOCs degradation, and evaluated the effects of coexisting water matrix constituents. Results revealed that Fe(VI) exhibited superior reactivity towards phenolic compounds. Different from other tested TrOCs, phenolic compounds were mainly degraded by Fe(VI) rather than Fe(IV)/Fe(V). Taking bisphenol A (BPA) as the target TrOC, we found that the coexisting constituents can not only affect the reactivity of different ferrate species (i.e., Fe(IV), Fe(V), and Fe(VI)), but also alter the concentrations of ferrates. HPO42- inhibited the reaction between Fe(VI) and H2O2, while Ca2+, Mg2+, and NH4+ promoted the generation of Fe(IV)/Fe(V) from Fe(VI). Besides, humic acid could increase the contribution of Fe(IV)/Fe(V) to the oxidation of BPA. These findings were validated in real water samples. Taken together, this study provides a new perspective regarding the intrinsic oxidation reactivity of Fe(VI), thereby urging reconsideration of the proper strategies for utilization of high-valent Fe species in practices.

A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.

Expanded carrier screening, a type of reproductive genetic testing for couples, has gained tremendous popularity for assessing the risk of passing on certain genetic conditions to offspring. Here, a carrier screening assay for 448 pathogenic variants was developed using capillary electrophoresis-based multiplex PCR technology. The capillary electrophoresis-based multiplex PCR assay achieved a sensitivity, specificity, and accuracy of 97.4%, 100%, and 99.6%, respectively, in detecting the specific variants. Among the 1915 couples (3830 individuals), 708 individuals (18.5%) were identified as carriers for at least one condition. Of the 708 carriers, 633 (89.4%) were heterozygous for one condition, 71 (10.0%) for two disorders, 3 (0.4%) for three disorders, and 1 (0.1%) for four disorders. Meanwhile, 30 (1.57%) couples were identified as at-risk couples. This study describes an inexpensive and effective method for expanded carrier screening. The simplicity and accuracy of this approach will facilitate the clinical implementation of expanded carrier screening.

Construction of Bi2WO6/CoAl-LDHs S-scheme heterojunction with efficient photo-Fenton-like catalytic performance: Experimental and theoretical studies.

The photo-Fenton-like catalytic process has shown great application potential in environmental remediation. Herein, a novel photo-Fenton-like catalyst of Bi2WO6 nanosheets decorated hortensia-like CoAl-layered double hydroxides (Bi2WO6/CoAl-LDHs) was synthesized via hydrothermal process. The optimized Bi2WO6/CoAl-LDHs composite performed the high-efficiency photo-Fenton-like catalytic performance for oxytetracycline (OTC) removal (98.47%) in the mediation of visible-light and H2O2. The comparative experiment, technical characterization and density functional theory calculation results indicated that the efficient photo-Fenton-like catalytic performance of Bi2WO6/CoAl-LDHs was attributed to the synergistic action of the Fenton-like process of cobalt ions in CoAl-LDHs, an internal electric field and the S-scheme heterojunction form between Bi2WO6 and CoAl-LDHs, which could significantly promote the active substance formation and the photocatalytic process in the catalytic system. This study will stimulate the new inspiration of designing the efficient catalytic system for environmental remediation and other fields.

Layered double hydroxide based materials applied in persulfate based advanced oxidation processes: Property, mechanism, application and perspectives.

Recently, persulfate-based advanced oxidation processes (persulfate-AOPs) are booming rapidly due to their promising potential in treating refractory contaminants. As a type of popular two-dimensional material, layered double hydroxides (LDHs) are widely used in energy conversion, medicine, environment remediation and other fields for the advantages of high specific surface area (SSA), good tunability, biocompatibility and facile fabrication. These excellent physicochemical characteristics may enable LDH-based materials to be promising catalysts in persulfate-AOPs. In this work, we make a summary of LDHs and their composites in persulfate-AOPs from different aspects. Firstly, we introduce different structure and important properties of LDH-based materials briefly. Secondly, various LDH-based materials are classified according to the type of foreign materials (metal or carbonaceous materials, mainly). Latterly, we discuss the mechanisms of persulfate activation (including radical pathway and nonradical pathway) by these catalysts in detail, which involve (i) bimetallic synergism for radical generation, (ii) the role of carbonaceous materials in radical generation, (iii) singlet oxygen (1O2) production and several special nonradical mechanisms. In addition, the catalytic performance of LDH-based catalysts for contaminants are also summarized. Finally, challenges and future prospects of LDH-based composites in environmental remediation are proposed. We expect this review could bring new insights for the development of LDH-based catalyst and exploration of reaction mechanism.