[Analysis and clinical application of preimplantation genetic testing for monogenic disorders in a case with Spinal muscular atrophy "2+0" genotype].

OBJECTIVE: To explore the clinical application of preimplantation genetic testing for monogenic disorders (PGT-M) in an unique case with Spinal muscular atrophy (SMA) type 2+0. METHODS: A special SMA family presented at the Third Affiliated Hospital of Guangzhou Medical University on October 19, 2020 was selected as the study subject. Multiple ligation-dependent probe amplification (MLPA) and molecular tagging linkage analysis were carried out to identify the SMN1 genotype of the couple and their fetus. Subsequently, next-generation sequencing (NGS), molecular tagging linkage analysis, and chromosomal microarray analysis were employed to determine the haplotypes and validate the result of PGT-M on the 11 embryos derived for the couple. RESULTS: The female partner was identified as a carrier of the rare SMN1[2+0] variant, and prenatal diagnosis confirmed the fetus to be affected by SMA. Ultimately, PGT-M has successfully selected four embryos free from the pathogenic SMN1 variants and X chromosome deletion. CONCLUSION: PGT-M can effectively prevent the transmission of rare genetic variants such as the SMA 2+0 subtype in the families. Above finding has provided guidance for genetic counseling and family planning for the couple.

Degradation of organic pollutants accompanied by the ultrasonic separation of the spent lithium-ion battery cathode materials.

Since the majority of valuable components in spent lithium-ion batteries, such as lithium, exists in the electrode materials, common studies focused on the treatment of the cathode materials, which ignored the harm of residual electrolyte. The cavitation and thermal effects produced by ultrasonic can not only be used for the separation of electrode materials, but also have a wide range of applications in the field of sewage pollutant degradation. This work used ultrasonic to treat simulated electrolyte (propylene carbonate (PC)) solution of spent lithium-ion batteries, explored the effect of ultrasonic power, the addition amount of H2O2 solution (30 wt%) and reaction temperature on the degradation of electrolyte, and analysed the ultrasonic degradation reaction from the perspective of reaction kinetics. And the synchronous experiment of cathode material separation and electrolyte degradation was conducted under the optimal conditions. The results showed that the highest degradation efficiency of PC in the electrolyte was 83.08% under the condition of ultrasonic power of 900 W, the addition of H2O2 solution (30 wt%) of 10.2 mL, reaction temperature of 120°C and reaction time of 120 minutes, and the separation efficiency was 100%. This work reduced the environmental and health risks in the cathode material separation process and was conducive to the green development of spent lithium-ion battery recycling technology.

Selective recovery of lithium from spent lithium iron phosphate batteries.

The recovery of lithium from spent lithium iron phosphate (LiFePO4) batteries is of great significance to prevent resource depletion and environmental pollution. In this study, through active ingredient separation, selective leaching and stepwise chemical precipitation develop a new method for the selective recovery of lithium from spent LiFePO4 batteries by using sodium persulphate (Na2S2O8) to oxidize LiFePO4 to FePO4. The impact of various variables on the efficiency of lithium leaching was investigated. Moreover, a combination of thermodynamic analysis and characterization techniques such as X-ray diffraction and X-ray photoelectron spectroscopy was employed to elucidate the leaching mechanism. It was found that 98.65% of lithium could be selectively leached in just 35 minutes at 60°C with only 0.2 times excess of Na2S2O8. This high leaching efficiency can be attributed to the stability and lack of structural damage during the oxidation leaching process. The proposed process is economically viable and environmentally friendly, thus showing great potential for the large-scale recycling of spent LiFePO4 batteries.

Efficient HCl leaching of platinum group metals from waste three-way catalysts: A study on kinetics and mechanisms.

Waste three-way catalysts (TWCs) have attracted much attention due to the presence of platinum group metals (PGMs) and hazardous substances such as heavy metals and organic matter. The extraction of PGMs from waste TWCs using hydrochloric acid (HCl) has been extensively researched. However, the addition of oxidizing agents like H2O2 and aqua regia is necessary to facilitate PGMs dissolution, which poses significant environmental and operational hazards. Hence, developing a green PGMs recovery process without oxidants is imperative. Previously, we investigated the process of Li2CO3 calcination pretreatment to enhance the leaching of PGMs from waste TWCs by HCl, focusing on the process and mechanism of Li2CO3 calcination pretreatment. In this study, we focused on the leaching process of HCl after pretreatment. Our investigation includes a detailed examination of leaching kinetics and mechanisms. The optimal leaching conditions were: leaching temperature of 150 °C, leaching time of 2 h, HCl concentration of 12 M, and liquid-solid ratio of 10 mL/g. The experiments resulted in maximum leaching rates of about 96%, 97%, and 97% for Pt, Pd, and Rh, respectively. However, given the presence of heavy metals, attention needs to be paid to the harmless treatment of waste acids and leaching residues. The Pt and Pd leaching process is controlled by a mixture of interfacial chemical reactions and internal diffusion, and dominated by internal diffusion, while the leaching process of Rh is controlled by interfacial chemical reactions. Li+ in Li2PtO3, Li2PdO2, and Li2RhO3 preferentially leached and underwent ion-exchange reactions with H+, promoting the dissolution of Pt, Pd, and Rh in HCl.

Fatty Acid Synthase-Suppressor Screening Identifies Sorting Nexin 8 as a Therapeutic Target for NAFLD.

BACKGROUND AND AIMS: NAFLD is the most prevalent chronic liver disease without any Food and Drug Administration-approved pharmacological intervention in clinic. Fatty acid synthase (FASN) is one of the most attractive targets for NAFLD treatment because of its robust rate-limiting capacity to control hepatic de novo lipogenesis. However, the regulatory mechanisms of FASN in NAFLD and potential therapeutic strategies targeting FASN remain largely unknown. METHODS AND RESULTS: Through a systematic interactomics analysis of FASN-complex proteins, we screened and identified sorting nexin 8 (SNX8) as a binding partner of FASN. SNX8 directly bound to FASN and promoted FASN ubiquitination and subsequent proteasomal degradation. We further demonstrated that SNX8 mediated FASN protein degradation by recruiting the E3 ligase tripartite motif containing 28 (TRIM28) and enhancing the TRIM28-FASN interaction. Notably, Snx8 interference in hepatocytes significantly deteriorated lipid accumulation in vitro, whereas SNX8 overexpression markedly blocked hepatocyte lipid deposition. Furthermore, the aggravating effect of Snx8 deletion on NAFLD was validated in vivo as hepatic steatosis and lipogenic pathways in the liver were significantly exacerbated in Snx8-knockout mice compared to wild-type controls. Consistently, hepatocyte-specific overexpression of Snx8 in vivo markedly suppressed high-fat, high-cholesterol diet (HFHC)-induced hepatic steatosis. Notably, the protective effect of SNX8 against NAFLD was largely dependent on FASN suppression. CONCLUSIONS: These data indicate that SNX8 is a key suppressor of NAFLD that promotes FASN proteasomal degradation. Targeting the SNX8-FASN axis is a promising strategy for NAFLD prevention and treatment.

A review on management of waste three-way catalysts and strategies for recovery of platinum group metals from them.

Platinum group metals (PGMs), especially platinum (Pt), palladium (Pd), and rhodium (Rh), are widely used in automotive three-way catalysts (TWCs). PGM resources are scarce and unevenly distributed, with global reserves of 69,000 t in 2020, of which more than 99% are concentrated in South Africa, Russia, Zambia, and the United States. However, the demand for PGMs worldwide is growing continually, especially in China. The recovery of PGMs from spent TWCs not only can alleviate the contradiction between supply and demand but also have good economic and environmental benefits. This paper briefly analyzes the market demand for Pt, Pd, and Rh in the global automotive industry in recent years, emphasizing the importance of waste TWC recycling. It also presents the current status of waste TWC management in some countries, especially China, and critically reviews the main recycling strategies for waste TWCs. On this basis, suggestions for strengthening the management of waste TWCs in China are put forward, and the future development trend of recycling technology is foreseen. The purpose of this paper is to provide some valuable references for the decision-makers of waste TWC management, and hopefully to provide inspiration for related scholars on the future research direction of waste TWC recycling technology.

Application of Restriction Site-Associated DNA Sequencing (RAD-Seq) for Copy Number Variation and Triploidy Detection in Human.

At present, low-pass whole-genome sequencing (WGS) is frequently used in clinical research and in the screening of copy number variations (CNVs). However, there are still some challenges in the detection of triploids. Restriction site-associated DNA sequencing (RAD-Seq) technology is a reduced-representation genome sequencing technology developed based on next-generation sequencing. Here, we verified whether RAD-Seq could be employed to detect CNVs and triploids. In this study, genomic DNA of 11 samples was extracted employing a routine method and used to build libraries. Five cell lines of known karyotypes and 6 triploid abortion tissue samples were included for RAD-Seq testing. The triploid samples were confirmed by STR analysis and also tested by low-pass WGS. The accuracy and efficiency of detecting CNVs and triploids by RAD-Seq were then assessed, compared with low-pass WGS. In our results, RAD-Seq detected 11 out of 11 (100%) chromosomal abnormalities, including 4 deletions and 1 aneuploidy in the purchased cell lines and all triploid samples. By contrast, these triploids were missed by low-pass WGS. Furthermore, RAD-Seq showed a higher resolution and more accurate allele frequency in the detection of triploids than low-pass WGS. Our study shows that, compared with low-pass WGS, RAD-Seq has relatively higher accuracy in CNV detection at a similar cost and is capable of identifying triploids. Therefore, the application of this technique in medical genetics has a significant potential value.

Association of gestational diabetes mellitus with changes in gut microbiota composition at the species level.

BACKGROUND: Gestational diabetes mellitus (GDM), a common endocrine disorder with rising prevalence in pregnancy, has been reported to be associated with alteration of gut microbiota in recent years. However, the role of gut microbiome in GDM physiopathology remains unclear. This pilot study aims to characterize the alteration of gut microbiota in GDM on species-level resolution and evaluate the relationship with occurrence of GDM. METHODS: An analysis based on 16S rRNA microarray was performed on fecal samples obtained from 30 women with GDM and 28 healthy pregnant women. RESULTS: We found 54 and 141 differentially abundant taxa between GDM and control group at the genus and the species level respectively. Among GDM patients, Peptostreptococcus anaerobius was inversely correlated with fasting glucose while certain species (e.g., Aureimonas altamirensis, Kosakonia cowanii) were positively correlated with fasting glucose. CONCLUSIONS: This study suggests that there are large amounts of differentially abundant taxa between GDM and control group at the genus and the species level. Some of these taxa were correlated with blood glucose level and might be used as biomarkers for diagnoses and therapeutic targets for probiotics or synbiotics.

Wet compounding with pyrolytic carbon black from waste tyre for manufacture of new tyre - A mini review.

Pyrolysis offers a more focused alternative to waste tyres treatment. Pyrolytic carbon black (CBp), the main product of waste tyre pyrolysis, and its modified species can be applied to tyre manufacturing realizing its high-value utilization. Modified pyrolytic carbon black/natural rubber composites prepared by a wet compounding (WC) and latex mixing process have become an innovative technology route for waste tyre remanufacturing. The main properties and applications of CBp reported in recent years are reviewed, and the main difficulties affecting its participation in tyre recycling are pointed out. The research progress of using WC technology to replace dry mixing manufacturing of new tyres is summarized. Through literature data and comparative studies, this paper points out that the characteristic of high ash content can be well utilized if CBp is applied to tyre manufacturing. This mini-review proposes a new method for high-value utilization of CBp. The composite mixing of CBp and carbon nano-materials under wet conditions is conducive to the realization of their good dispersion in the rubber matrix. This provides a new idea for customer resource integration and connection of industry development between the tyre production industry and waste tyre disposal management.

Hepatic Interferon Regulatory Factor 6 Alleviates Liver Steatosis and Metabolic Disorder by Transcriptionally Suppressing Peroxisome Proliferator-Activated Receptor γ in Mice.

Nonalcoholic fatty liver disease (NAFLD) has become a worldwide epidemic. A large and growing unmet therapeutic need has inspired numerous studies in the field. Integrating the published genomic data available in the Gene Expression Omnibus (GEO) with NAFLD samples from rodents, we discovered that interferon regulatory factor 6 (IRF6) is significantly downregulated in high-fat diet (HFD)-induced fatty liver. In the current study, we identified IRF6 in hepatocytes as a protective factor in liver steatosis (LS). During HFD challenge, hepatic Irf6 was suppressed by promoter hypermethylation. Severity of HFD-induced LS was exacerbated in hepatocyte-specific Irf6 knockout mice, whereas hepatocyte-specific transgenic mice overexpressing Irf6 (IRF6-HTG) exhibited alleviated steatosis and metabolic disorder in response to HFD feeding. Mechanistic studies in vitro demonstrated that hepatocyte IRF6 directly binds to the promoter of the peroxisome proliferator-activated receptor γ (PPARγ) gene and subsequently halts the transcription of Pparγ and its target genes (e.g., genes that regulate lipogenesis and lipid acid uptake) under physiological conditions. Conclusion: Irf6 is downregulated by promoter hypermethylation upon metabolic stimulus exposure, which fail to inhibit Pparγ and its targets, driving abnormalities of lipid metabolism.

A review on management of spent lithium ion batteries and strategy for resource recycling of all components from them.

The wide use of lithium ion batteries (LIBs) has brought great numbers of discarded LIBs, which has become a common problem facing the world. In view of the deleterious effects of spent LIBs on the environment and the contained valuable materials that can be reused, much effort in many countries has been made to manage waste LIBs, and many technologies have been developed to recycle waste LIBs and eliminate environmental risks. As a review article, this paper introduces the situation of waste LIB management in some developed countries and in China, and reviews separation technologies of electrode components and refining technologies of LiCoO2 and graphite. Based on the analysis of these recycling technologies and the structure and components characteristics of the whole LIB, this paper presents a recycling strategy for all components from obsolete LIBs, including discharge, dismantling, and classification, separation of electrode components and refining of LiCoO2/graphite. This paper is intended to provide a valuable reference for the management, scientific research, and industrial implementation on spent LIBs recycling, to recycle all valuable components and reduce the environmental pollution, so as to realize the win-win situation of economic and environmental benefits.

Generation, collection and transportation, disposal and recycling of kitchen waste: a case study in Shanghai.

With respect to waste sorting, Shanghai sets an example for other Chinese cities on the standardized treatment of kitchen waste (KW) in China. According to the results of investigation, about 560 kilo tons of KW from different sources in Shanghai were produced in 2011. Of this, 45.6% (255.6 kilo tons) was collected and transported properly by a comprehensive and formal collection and transportation system. Landfilling and incineration, which are the traditional treatment technologies used, show downward trends because of increasing environmental awareness and land restrictions. Feed production, composting and biodiesel refining play increasingly important roles in the recycling of KW. Safe disposal, reduced KW quantity, public education, and technological innovation are still problematic issues and need to be considered in future waste management in Shanghai.

OTUB1 accelerates hepatocellular carcinoma by stabilizing RACK1 via its non-canonical ubiquitination.

BACKGROUND: Dysregulated ubiquitination modification occupies a pivotal role in hepatocellular carcinoma (HCC) tumorigenesis and progression. The ubiquitin aldehyde binding 1 (OTUB1) was aberrantly upregulated and exhibited the pro-tumorigenic function in HCC. However, the underlying mechanisms and responsible targets of OTUB1 remain unclear. METHODS: First, bioinformatics analysis, western blot and immunohistochemistry staining were applied to analyze OTUB1 expression in HCC specimens. Then, immunoprecipitation assay-tandem mass spectrometry (MS) combined with the gene set enrichment analysis (GSEA) was used to explore the downstream target of OTUB1. Co-immunoprecipitation and ubiquitination assays were used to identify the mechanisms involved. Finally, we explored the regulatory effect of MAZ on OTUB1 through ChIP-qPCR and dual-luciferase reporter assay. RESULTS: OTUB1 was broadly elevated in HCC tissues and promoted the proliferation and metastasis of HCC in vitro and in vivo. The receptor for activated C kinase 1 (RACK1) performed as a functional partner of OTUB1 and its hyperactivation was associated with aggressive development and other malignant features in HCC by activating oncogenes transcription. Mechanistically, OTUB1 directly bound to RACK1 at its C-terminal domain and decreased the K48-linked ubiquitination of RACK1 through its non-canonical suppression of ubiquitination activity, which stabilized RACK1 protein levels in HCC cells. Therefore, OTUB1 significantly increased multiple oncogenes expression and activated PI3K/AKT and FAK/ERK signaling in a RACK1-dependent manner in HCC. Moreover, the transcription factor MAZ upregulated OTUB1 expression through identifying a putative response element of OTUB1 promoter area. CONCLUSIONS: Our findings might provide a new therapeutic strategy for HCC by modifying the MAZ-OTUB1-RACK1 axis.

Dysfunction of cecal microbiota and CutC activity in mice mediating diarrhea with kidney-yang deficiency syndrome.

Objective: Previous studies have indicated that diarrhea with kidney-yang deficiency syndrome leads to a disorder of small intestine contents and mucosal microbiota. However, the relationship of TMA-lyase (CutC) activity and TMAO with diarrhea with kidney-yang deficiency syndrome remains unexplored. Therefore, this study explores the relationship between cecal microbiota and choline TMA-lyase (CutC) activity, as well as the correlation between trimethylamine oxide (TMAO), inflammatory index, and CutC activity. Method: Twenty SPF-grade male KM mice were randomly divided into the normal group (CN) and the diarrhea model group (CD). Diarrhea mouse models were established by adenine combined with Folium sennae administration. CutC activity, TMAO, interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) levels were detected, and the cecal content microbiota was sequenced. Result: After 14 days, diarrhea occurred in the CD group. Compared with the CN group, there was no significant change in the activity of CutC in the small intestine of the CD group, while the activity of CutC in the cecum was significantly increased, and the levels of TMAO, IL-6, and TNF-α showed a significant increase. The Chao1 index, Observed_species index, Shannon index, and Simpson index all exhibited a decreasing trend. The main changes at the bacterial genus level were Alistipes, Enterorhabdus, Desulfovibrio, Bacteroides, Candidatus_Saccharimonas, and [Ruminococcus]_torques_group. The results of LEfSe analysis, random forest analysis and ROC curve analysis revealed Paludicola, Blautia, Negativibacillus, Paraprevotella, Harryflintia, Candidatus_Soleaferrea, Anaerotruncus, Oscillibacter, Colidextribacter, [Ruminococcus]_torques_group, and Bacteroides as characteristic bacteria in the CD group. Correlation analysis showed a significant negative correlation between cecal CutC activity and Ligilactobacillus, and a significant positive correlation with Negativibacillus and Paludicola. The level of TMAO was significantly positively correlated with CutC activity and IL-6. Conclusion: Diarrhea with kidney-yang deficiency syndrome significantly affects the physiological status, digestive enzyme activity, CutC activity, TMAO levels, and inflammatory response in mice. Additionally, there are changes in the composition and function of cecal microbiota, indicating an important impact of diarrhea with kidney-yang deficiency syndrome on the host intestinal microbiota balance. The occurrence of diarrhea with kidney-yang deficiency syndrome may be associated with dysbiosis of intestinal microbiota, increased CutC activity, elevated TMAO levels, and heightened inflammatory factor levels.

Estrogen Induces LCAT to Maintain Cholesterol Homeostasis and Suppress Hepatocellular Carcinoma Development.

Hepatocellular carcinoma (HCC) is an aggressive disease that occurs predominantly in men. Estrogen elicits protective effects against HCC development. Elucidation of the estrogen-regulated biological processes that suppress HCC could lead to improved prevention and treatment strategies. Here, we performed transcriptomic analyses on mouse and human liver cancer and identified lecithin cholesterol acyltransferase (LCAT) as the most highly estrogen-upregulated gene and a biomarker of favorable prognosis. LCAT upregulation inhibited HCC in vitro and in vivo and mediated estrogen-induced suppression of HCC in an ESR1-dependent manner. LCAT facilitated high-density lipoprotein cholesterol production and uptake via the LDLR and SCARB1 pathways. Consistently, high HDL-C levels corresponded to a favorable prognosis in HCC patients. The enhanced HDL-C absorption induced by LCAT impaired SREBP2 maturation, which ultimately suppressed cholesterol biosynthesis and dampened HCC cell proliferation. HDL-C alone inhibited HCC growth comparably to the cholesterol-lowering drug lovastatin, and SREBF2 overexpression abolished the inhibitory activity of LCAT. Clinical observations and cross-analyses of multiple databases confirmed the correlation of elevated LCAT and HDL-C levels to reduced cholesterol synthesis and improved HCC patient prognosis. Furthermore, LCAT deficiency mimicked whereas LCAT overexpression abrogated the tumor growth-promoting effects of ovariectomy in HCC-bearing female mice. Most importantly, HDL-C and LCAT delayed the development of subcutaneous tumors in nude mice, and HDL-C synergized with lenvatinib to eradicate orthotopic liver tumors. Collectively, this study reveals that estrogen upregulates LCAT to maintain cholesterol homeostasis and to dampen hepatocarcinogenesis. LCAT and HDL-C represent potential prognostic and therapeutic biomarkers for targeting cholesterol homeostasis as a strategy for treating HCC. Significance: Estrogen mediates the sex differences in hepatocellular carcinoma development by reducing cholesterol biosynthesis through activation of an LCAT/HDL-C axis, providing strategies for improving liver cancer prevention, prognosis, and treatment.

TRIM45 facilitates NASH-progressed HCC by promoting fatty acid synthesis via catalyzing FABP5 ubiquitylation.

Non-alcoholic steatohepatitis (NASH) is rapidly surpassing viral hepatitis as the primary cause of hepatocellular carcinoma (HCC). However, understanding of NASH-progressed HCC remains poor, which might impede HCC diagnosis and therapy. In this study, we aim to identify shared transcriptional changes between NASH and HCC, of which we focused on E3 ligase TRIM45. We found TRIM45 exacerbates HCC cells proliferation and metastasis in vitro and in vivo. Further transcriptome analysis revealed TRIM45 predominantly affects fatty acid metabolism and oleic acid restored impaired proliferation and metastasis of TRIM45-deficient HCC cells. IP-tandem mass spectrum and FABP5 depriving experiment indicated that TRIM45 enhance fatty acid synthesis depending on FABP5 presence. Interestingly, we found TRIM45 directly added K33-type and K63-type poly-ubiquitin chains to FABP5 NLS domain, which ultimately promoted FABP5 nuclear translocation. Nuclear FABP5 interacted with PPARγ to facilitate downstream lipid synthesis gene expression. We observed TRIM45 accelerated NASH-to-HCC transition and exacerbated both NASH and NASH-HCC with the enhanced fatty acid production in vivo. Moreover, high concentration of fatty acid increased TRIM45 expression. The established mechanism was substantiated by gene expression correlation in TCGA-LIHC. Collectively, our research revealed a common lipid reprograming process in NASH and HCC and identified the cyclical amplification of the TRIM45-FABP5-PPARγ-fatty acid axis. This signaling pathway offers potential therapeutic targets for therapeutic intervention in NASH and NASH-progressed HCC.

[Clinical value of MLPA in the prenatal gene diagnosis of Duchenne muscular dystrophy].

OBJECTIVE: To investigate the clinical value of multiplex ligation-dependent probe amplification (MLPA) in the prenatal gene diagnosis of high risk pregnant women from Duchenne muscular dystrophy (DMD) families. METHODS: The 155 high risk pregnant women from DMD families were recruited from 2005 to 2012 in 4 hospitals in Guangzhou, such as Southern Hospital of Southern Medical University and the Third Affiliated Hospital of Guangzhou Medical University. Among all the samples, 7 were chorionic villus samples taken from early-stage pregnancy and 148 were amniotic fluid samples from mid-stage pregnancy. After the maternal contamination was eliminated, the fetal DMD gene screening was carried out by using MLPA. The mutation rates in DMD exons were calculated in all the 155 families. RESULTS: (1) Among the 155 fetuses of the DMD high risk pregnant women, there were 72 male fetuses and 83 female fetuses. In the male fetuses, there were 27 sufferers (38%). In the female fetuses, there were 28 carriers (34%). And there were 100 normal fetuses. (2) Among the 27 DMD sufferers, 22 cases were DMD exon homozygous deletions (14.2%, 22/155) and 5 cases were DMD exon duplications (3.2%, 5/155). Among the 28 carriers, 25 cases were gene heterozygous deletions (16.1%, 25/155) and 3 cases were gene heterozygous duplications (1.9%, 3/155). In the 155 families, the DMD mutations mainly occurred in exons 45-52, and the exon 49 had the highest mutation rates of 22 times. (3) Among the 7 cases of prenatal gene diagnosis using chorionic villus samples, 2 fetuses had the identical DMD genotypes with their mothers and probands. One was a DMD sufferer and the other was a carrier. Termination or continuation of pregnancy was suggested based on the genotype of the fetus. CONCLUSIONS: MLPA provides an accurate method in the prenatal diagnosis of DMD. It could be used to distinguish DMD gene homozygous deletions from heterozygous deletions and duplications. Therefore, it is valuable for DMD prenatal diagnosis in high-risk women. Chorionic villus sampling can be applied to the early prenatal diagnosis for DMD disease.

The integrated design and optimization of a WEEE collection network in Shanghai, China.

An integrated formal collection and recycling network is a significant concern to achieve efficient management of waste electrical and electronic equipment (WEEE). This study, which aimed to investigate the present problems of WEEE recycling in China, proposes the application of a comprehensive solution approach to address a complete WEEE collection and transportation network in Shanghai, China. The methodologic steps regard three things: identification of WEEE collection sites and transit sites with quadratic optimizing models solved by exact algorithm; vehicle routing planning with a modified ant colony algorithm; and defining of minimum transportation cycles and proper shipping arrangements. The rounded WEEE collection network is presented as technical support and a demonstration of further planning and construction of the WEEE recycling system in China.

Process and mechanism of enhanced HCl leaching of platinum group metals from waste three-way catalysts by Li2CO3 calcination pretreatment.

Recovery of platinum group metals (PGMs) from waste three-way catalysts (TWCs) was usually achieved by dissolving them in an acid solution. However, their dissolution requires the addition of oxidizing agents such as Cl2 and aqua regia, which could cause high environmental risks. Therefore, the development of new methods without the addition of oxidant agents will contribute to the green recovery of PGMs. In this paper, the process and mechanism of PGMs recovery from waste TWCs by Li2CO3 calcination pretreatment-HCl leaching were studied in detail, and molecular dynamics calculations were performed for the formation processes of Pt, Pd, and Rh complex oxides. The results showed that the leaching rates of Pt, Pd, and Rh could reach about 95%, 98%, and 97%, respectively, under the optimal conditions. Li2CO3 calcination pretreatment cannot only oxidize Pt, Pd, and Rh metals to HCl-soluble Li2PtO3, Li2PdO2, and Li2RhO3, but also remove the carbon accumulation in waste TWCs and open the wrapping of PGMs by the substrate and Al2O3 coating. The embedding of Li and O atoms in metallic Pt, Pd, and Rh is an interacting embedding process. Although the Li atoms are faster than O, O will accumulate on the metal surface first before embedding.

F8 gene inversion and duplication cause no obvious hemophilia A phenotype.

Hemophilia A (HA, OMIM#306700) is an X-linked recessive bleeding disorder caused by the defects in the F8 gene, which encodes coagulation factor VIII (FVIII). Intron 22 inversion (Inv22) is found in about 45% of patients with severe hemophilia A. Here, we reported a male without obvious hemophilia A phenotype but bearing an inherited segmental variant duplication encompassing F8 as well as Inv22. The duplication was approximately 0.16 Mb and involved from exon 1 to intron 22 of F8. This partial duplication and Inv22 in F8 was first found in the abortion tissue of his older sister with recurrent miscarriage. The genetic testing of his family revealed that his phenotypically normal older sister and mother also had this heterozygous Inv22 and a 0.16 Mb partial duplication of F8, while his father was genotypically normal. The integrity of the F8 gene transcript was verified by sequencing of the adjacent exons at the inversion breakpoint, which explained why this male had no phenotype for hemophilia A. Interestingly, although he had no significant hemophilia A phenotype, the expression of C1QA in his mother, sister, and the male subject was only about half of that in his father and normal population. Our report broadens the mutation spectrum of F8 inversion and duplication and its pathogenicity in hemophilia A.