Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G > A Mutation.

Achondroplasia (ACH) is a skeletal disorder caused by fibroblast growth factor receptor 3 (FGFR3) variants. Volumetric bone mineral density (vBMD), bone microarchitecture, and strength have not been evaluated in these patients previously. This study aims to evaluate vBMD, bone microarchitecture, and strength in ACH patients. Seventeen patients underwent clinical and biochemical evaluations, and genetic testing. High-resolution peripheral quantitative computed tomography was performed in 10 ACH patients and 21 age- and sex-matched healthy subjects. All individuals had the hotspot mutation of c.1138G > A in FGFR3. Linear growth retardation, disproportionate short stature, and genu varum are the most common manifestations. The mean height was 108.82 ± 24.08 cm (Z score: - 5.72 ± 0.96). Total vBMD in the ACH and the control groups was 427.08 ± 49.29 mg HA/cm3 versus 300.35 ± 69.92 mg HA/cm3 (p < 0.001) at the radius and 336.90 ± 79.33 mg HA/cm3 versus 292.20 ± 62.35 mg HA/cm3 (p = 0.098) at the tibia; both at the radius and tibia, vBMD of trabecular bones was significantly lower in the ACH group than in the control group, but vBMD of cortical bones was slightly higher in the ACH group. Trabecular separation and cortical thickness in the ACH group were significantly higher than those in the control group, but trabecular number was significantly decreased in the ACH group. Stiffness and failure load were only better at the radius in the ACH group. ACH patients have higher total and cortical vBMD, lower trabecular vBMD, worse trabecular bone microarchitecture, thicker cortical bone thickness, and better estimated bone strength.

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.

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.

Study on the Influence of Metal Ions on the Dispersion of Fine Calcium Gangue Minerals.

In this study, the calcium gangue material calcite (−10 µm) was used to investigate the effects of different kinds of metal ions and dosages on the dispersion behavior of calcite. The test results showed that the dispersion behavior of calcite was poor under strongly alkaline conditions without the addition of metal ions, and the reason for that was calcite dissolved ions. The degree of influence of different metal ions on calcite dispersion behavior was Fe3+ > Mg2+ > Na+. The three metal ion dosage tests showed that the dispersion behavior of calcite became poorer with the increase of metal ion dosage. This mainly showed that with the increase of Na+ dosage, the trend of the dispersion behavior of calcite was not obvious, but with the increase of Fe3+ and Mg2+ dosage, the trend of calcite dispersion behavior changed more. The dispersion behavior of calcite was devastated by 5 × 10−4 mol/L Fe3+ at pH = 4−12. The different mechanisms of the three metal ions were identified by zeta potential, solution chemistry, and XPS analysis. Na+ only changed the zeta potential value of the calcite surface, which acted as a compressed electric double layer. However, the formation of metal hydroxide species or metal hydroxide surface precipitation due to the adsorption of Fe3+ and Mg2+ on the mineral surface resulted in the change of the dispersion behavior of calcite.

Effect of Unavoidable Ion (Ca2+) in Pulp on the Dispersion Behavior of Fine Smithsonite.

The efficient dispersion of particles is a prerequisite for the efficient flotation of fine smithsonite. However, unavoidable ions (Ca2+) in the pulp have become a challenge for the efficient separation of fine smithsonite, due to the high content of pulp and small radius of hydrated ions. Therefore, the dispersion behavior and mechanism of Ca2+ action on smithsonite are important for improving the efficiency of smithsonite flotation. In this study, the effects of Ca2+ on the dispersion behavior of fine smithsonite were studied using a turbidity test. The results showed that the dispersion behavior of smithsonite was good in the absence of Ca2+ at a range of pH = 4−12. However, the measured turbidity values of smithsonite decreased with the addition of calcium ions. In particular, the dispersion behavior of smithsonite became worse at pH > 10. Zeta potential test results showed that the smithsonite's surface potential shifted positively, and the absolute value of potential decreased in the presence of Ca2+. The results of X-ray photoelectron spectroscopy (XPS) and scanning electron microscopy (SEM) analysis showed that calcium ions were adsorbed on the smithsonite surface, which may have caused ion exchange or the generation of calcium hydroxide precipitation leading to particle coalescence behavior. The calculations of solution chemistry and DLVO theory indicated that calcium ions adsorbed on the surface of smithsonite to form Ca(OH)+ or precipitation, which reduced the potential energy of interparticle interactions and led to the disruption of dispersion behavior of smithsonite.

Characterization of γδT cells in lung of Plasmodium yoelii-infected C57BL/6 mice.

BACKGROUND: Malaria has high morbidity and mortality rates in some parts of tropical and subtropical countries. Besides respiratory and metabolic function, lung plays a role in immune system. γδT cells have multiple functions in producing cytokines and chemokines, regulating the immune response by interacting with other cells. It remains unclear about the role of γδT cells in the lung of mice infected by malaria parasites. METHODS: Flow cytometry (FCM) was used to evaluate the frequency of γδT cells and the effects of γδT cells on the phenotype and function of B and T cells in Plasmodium yoelii-infected wild-type (WT) or γδTCR knockout (γδT KO) mice. Haematoxylin-eosin (HE) staining was used to observe the pathological changes in the lungs. RESULTS: The percentage and absolute number of γδT cells in the lung increased after Plasmodium infection (p < 0.01). More γδT cells were expressing CD80, CD11b, or PD-1 post-infection (p < 0.05), while less γδT cells were expressing CD34, CD62L, and CD127 post-infection (p < 0.05). The percentages of IL-4+, IL-5+, IL-6+, IL-21+, IL-1α+, and IL-17+ γδT cells were increased (p < 0.05), but the percentage of IFN-γ-expressing γδT cells decreased (p < 0.05) post-infection. The pathological changes in the lungs of the infected γδT KO mice were not obvious compared with the infected WT mice. The proportion of CD3+ cells and absolute numbers of CD3+ cells, CD3+ CD4+ cells, CD3+ CD8+ cells decreased in γδT KO infected mice (p < 0.05). γδT KO infected mice exhibited no significant difference in the surface molecular expression of T cells compared with the WT infected mice (p > 0.05). While, the percentage of IFN-γ-expressing CD3+ and CD3+ CD8+ cells increased in γδT KO infected mice (p < 0.05). There was no significant difference in the absolute numbers of the total, CD69+, ICOS+, and CD80+ B cells between the WT infected and γδT KO infected mice (p > 0.05). CONCLUSIONS: The content, phenotype, and function of γδT cells in the lung of C57BL/6 mice were changed after Plasmodium infection. γδT cells contribute to T cell immune response in the progress of Plasmodium infection.

Adeno-associated virus vector enables safe and efficient Cas9 activation in neonatal and adult Cas9 knockin murine cochleae.

Adeno-associated virus (AAV)-mediated gene delivery systems have been shown to be effective tools for gene manipulation in the inner ear. For example, hair cells (HCs) and multiple other cell types can be transduced by the local injection of AAVs into the inner ear. However, application of the AAV-mediated CRISPR/Cas9 gene-editing approach to the inner ear in adult mice has not yet been studied. Based on our previous work, we investigated several AAV serotypes in neonatal and adult mice in parallel, and found that AAV8 had the top efficiency to transduce inner HCs. We then tested the ability of Cre-expressing AAV8 to activate Cas9 in floxed-Cas9 knockin mice, and observed significant Cas9 activation in the inner ear of both neonatal and adult animals. Neither the AAV8 virus itself nor the surgical procedures used to deliver it-cochleostomy for neonatal mice and canalostomy for adult mice-caused any damage to HCs or impaired normal hearing. Our studies indicate that the local injection of AAV8-Cre can induce Cas9 activation to perform safe and efficient gene editing in the inner ear, expanding the repertoire of gene-editing tools for regulating gene expression in the inner ear as a part of efforts to rescue genetic hearing loss, initiate regeneration of HCs, or develop gene therapy techniques.

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation.

BACKGROUND: Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility. Deficiency of lysyl hydroxylase 1 (LH1) due to mutations of PLOD1 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1) gene has been identified as the pathogenic cause of kEDS (kEDS-PLOD1). Up to now, kEDS-PLOD1 has not been reported among Chinese population. CASE PRESENTATION: A 17-year-old Chinese male patient presenting with hypotonia, joint hypermobility and scoliosis was referred to our hospital. After birth, he was found to have severe hypotonia leading to delayed motor development. Subsequently, joint hypermobility, kyphoscoliosis and amblyopia were found. Inguinal hernia was found at age 5 years and closed by surgery. At the same time, he presented with hyperextensible and bruisable velvety skin with widened atrophic scarring after minor trauma. Dislocation of elbow joint was noted at age of 6 years. Orthopedic surgery for correction of kyphoscoliosis was performed at age 10 years. His family history was unremarkable. Physical examination revealed elevated blood pressure. Slight facial dysmorphologies including high palate, epicanthal folds, and down-slanting palpebral fissures were found. He also had blue sclerae with normal hearing. X-rays revealed severe degree of scoliosis and osteopenia. The Echocardiography findings were normal. Laboratory examination revealed a slightly elevated bone turnover. Based on the clinical manifestations presented by our patient, kEDS was suspected. Genetic analysis revealed a novel homozygous missense mutation of PLOD1 (c.1697 G > A, p.C566Y), confirming the diagnosis of kEDS-PLOD1. The patient was treated with alfacalcidol and nifedipine. Improved physical strength and normal blood pressure were reported after 12-month follow-up. CONCLUSIONS: This is the first case of kEDS-PLOD1 of Chinese origin. We identified one novel mutation of PLOD1, extending the mutation spectrum of PLOD1. Diagnosis of kEDS-PLOD1 should be considered in patients with congenital hypotonia, progressive kyphoscoliosis, joint hypermobility, and skin hyperextensibility and confirmed by mutation analysis of PLOD1.

Development and validation of T-ARMS-PCR to detect CYP2C19*17 allele.

BACKGROUND: CYP2C19*17 (rs12248560) is a functional single nucleotide polymorphism (SNP) in the CYP2C19 gene. It has been shown that CYP2C19*17 is associated with the clinical outcome of some drugs metabolized by CYP2C19 and a decreased risk of some diseases. The aim of this study was to develop a reliable and simple method to detect this polymorphism. METHODS: Tetra-primer amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used to detect the CYP2C19*17 polymorphism. A total of 93 samples were screened by this method, and the results of T-ARMS-PCR were validated by DNA sequencing. RESULTS: There were 91 samples with the CC genotype (97.8%) and two samples with the CT genotype (2.2%). The frequency of the C allele was 98.9%, and the frequency of the T allele was 1.1%. The DNA sequencing results were completely concordant with the T-ARMS-PCR results. CONCLUSION: T-ARMS-PCR can detect the CYP2C19*17 polymorphism with high accuracy, low costs, and a simple process.

Mitochondrial Dysfunction and Therapeutic Targets in Auditory Neuropathy.

Sensorineural hearing loss (SNHL) becomes an inevitable worldwide public health issue, and deafness treatment is urgently imperative; yet their current curative therapy is limited. Auditory neuropathies (AN) were proved to play a substantial role in SNHL recently, and spiral ganglion neuron (SGN) dysfunction is a dominant pathogenesis of AN. Auditory pathway is a high energy consumption system, and SGNs required sufficient mitochondria. Mitochondria are known treatment target of SNHL, but mitochondrion mechanism and pathology in SGNs are not valued. Mitochondrial dysfunction and pharmacological therapy were studied in neurodegeneration, providing new insights in mitochondrion-targeted treatment of AN. In this review, we summarized mitochondrial biological functions related to SGNs and discussed interaction between mitochondrial dysfunction and AN, as well as existing mitochondrion treatment for SNHL. Pharmaceutical exploration to protect mitochondrion dysfunction is a feasible and effective therapeutics for AN.

Changes of CD103-expressing pulmonary CD4+ and CD8+ T cells in S. japonicum infected C57BL/6 mice.

BACKGROUND: Recent studies have shown that CD103 is an important marker for tissue-resident memory T cells (TRM) which plays an important role in anti-infection. However, the role of CD103+ TRM was not elucidated in the progress of S. japonicum infection induced disease. METHODS: 6-8 weeks old C57BL/6 mice were infected by S. japonicum. Mice were sacrificed and the lungs were removed 5-6 weeks after infection. Immunofluorescent staining and Q-PCR were performed to identify the expression of CD103 molecule. Single cellular populations were made, percentages of CD103 on both CD4+ and CD8+ T lymphocytes were dynamical observed by flow cytometry (FCM). Moreover, the expression of memory T cells related molecules CD69 and CD62L, T cell function associated molecules CD107a, IFN-γ, IL-4, IL-9, and IL-10 were compared between CD103+ CD4+ and CD8+ T cells by FCM. RESULTS: CD103+ cells were emerged in the lung of both naive and S. japonicum infected mice. Both the percentage and the absolute numbers of pulmonary CD4+ and CD8+ cells were increased after S. japonicum infection (P < 0.05). The percentage of CD103+ cells in CD8+ T cells decreased significantly at the early stage of S. japonicum infection (P < 0.05). Increased CD69, decreased CD62L and CD107a expressions were detected on both CD4+ and CD8+ CD103+ T cells in the lungs of infected mice (P < 0.05). Compared to CD8+ CD103+ T cells, CD4+ CD103+ T cells from infected mice expressed higher level of CD69 and lower level CD62L molecules (P < 0.05). Moreover, higher percentage of IL-4+, IL-9+ and IL-10+ cells on CD4+ CD103+ pulmonary T cells was found in infected mice (P < 0.05). Significantly increased IL-4 and IL-9, and decreased IFN-γ expressing cells were detected in CD8+CD103+ cells of infected mice (P < 0.05). CONCLUSIONS: CD103-expressing pulmonary CD4+ and CD8+ T cells play important roles in mediating S. japonicum infection induced granulomatous inflammation in the lung.

[Correlation between pulmonary function impairment and levels of alpha1-antitrypsin in serum and colon of ulcerative colitis patients: a clinical research].

OBJECTIVE: To explore the mechanism of pulmonary involvement in ulcerative colitis (UC) patients by observing the correlation between pulmonary functions and levels of alpha1-antitrypsin (A1AT) in serum and colon tissue in UC patients. METHODS: Totally 90 patients with confirmed UC were assigned to different groups according to the extent of disease, the disease activity, the staging of severity, and course of disease. The serum level of A1AT in UC patients with different extent of disease, the disease activity, the staging of severity, and course of disease were compared. And 30 healthy volunteers were recruited as the control group. The serum renal and hepatic functions, pulmonary functions, and serum levels of A1AT were detected in the UC group and the control group. The correlation between A1AT and each pulmonary function index in UC patients was analyzed. The A1AT content in the colon tissue was detected with immunohistochemical assay in 20 UC patients as well as in 10 healthy volunteers. RESULTS: Of the 90 UC patients, 54 patients were accompanied with pulmonary function abnormality (60.0%), and 24 with extraintestinal manifestations (26.7%). Compared with the control group, the serum level of A1AT was significantly lower in the UC group (P < 0.05). The serum level of A1AT was significantly higher in those with proctitis than in those with distal colonitis and pancolitis (P < 0.05). The serum level of A1AT was lower in patients with the course of disease 5 years and more than 5 years than in those with the course of disease less than 5 years (P < 0.05). Vital capacity (VC), forced vital capacity (FVC), forced expiratory volume in one second (FEV1.0), total lung capacity (TLC), function residual volume (FRV), and the ratio of diffusion capacity for carbon monoxide of lung (DLCO) were much lower in those with proctitis than in those with distal colonitis and pancolitis (P < 0.05). The ratio of FVC was negatively linear correlated with the course of disease (r = -0.23, P = 0.018). There was a positive correlation between the serum level of A1AT and peak expiratory flow (PEF) (r = 0.22, P = 0.03). The level of A1AT in the colon tissue was obviously lower in the UC patients than in those of the control group (P < 0.05). Mild and moderate UC patients had increased levels of A1AT in the colon tissue, when compared with severe UC patients (P < 0.05). The level of A1AT in the colon tissue was higher in those with proctitis than in those with distal colonitis and pancolitis (P < 0.05). CONCLUSIONS: The prevalence of pulmonary function impairment was higher than other extraintestinal manifestations in UC patients. The pulmonary function test was helpful to screen the pulmonary impairment of UC patients. The A1AT level in the serum and the colon tissue obviously decreased in UC patients, indicating the pulmonary function impairment of UC patients might manifest as decreased A1AT levels correlated chronic airway inflammation, remodeling of airway, and obstructive changes.

New insight into the spatio-temporal patterns of functional groups of hotspot inside the composting aggregates by synchrotron-based FTIR in hyperthermophilic composting.

Hyperthermophilic composting (HTC) is a recently developed and highly promising organic fraction of municipal solid waste (OFMSW) treatment technology. Investigation of organic matter (OM) dynamics in compost particle is thus crucial for the understanding of humification of HTC process. Herein, this work aimed to study the chemical and structural changes of OM at the molecular level during HTC of OFMSW using EEM and SR-FTIR analyses. Additionally, two-dimensional correlation spectroscopy (2D-COS) was also utilized to probe and identify the changes in chemical constituents and functional groups of organic compounds on the surface of compost particles during different composting periods. Results show that SR-FTIR can detect fine-scale (~µm) changes in functional groups from the edges to the interior of compost particles during different composting periods by mapping the particles in situ. In the hyperthermophilic stage (day 9), the extracted µ-FTIR spectrum reveals a distinct boundary between anaerobic and aerobic regions within the compost particle, with a thickness of anaerobic zone (1460 cm-1) of approximately 30 µm inside the particle's core. This provides direct evidence of anaerobic trends at compost microscales level within compost particles. 2D-COS analysis indicated that organic functional groups gradually agglomerated in the order of 1330 > 2930 > 3320 > 1600 > 1030 > 895 cm-1 to the core skeleton of cellulose degradation residues, forming compost aggregates with well physicochemical properties. Overall, the first combination of SR-FTIR and EEM provides complementary explanations for the humification mechanism of HTC, potentially introducing a novel methodology for investigating the environmental behaviors and fates of various organic contaminants associated with OM during the in-situ composting biochemical process.

Personalized Porous Gelatin Methacryloyl Sustained-Release Nicotinamide Protects Against Noise-Induced Hearing Loss.

There are no Food and Drug Administration-approved drugs for treating noise-induced hearing loss (NIHL), reflecting the absence of clear specific therapeutic targets and effective delivery strategies. Noise trauma is demonstrated results in nicotinamide adenine dinucleotide (NAD+) downregulation and mitochondrial dysfunction in cochlear hair cells (HCs) and spiral ganglion neurons (SGNs) in mice, and NAD+ boosted by nicotinamide (NAM) supplementation maintains cochlear mitochondrial homeostasis and prevents neuroexcitatory toxic injury in vitro and ex vivo, also significantly ameliorated NIHL in vivo. To tackle the limited drug delivery efficiency due to sophisticated anatomical barriers and unique clearance pathway in ear, personalized NAM-encapsulated porous gelatin methacryloyl (PGMA@NAM) are developed based on anatomy topography of murine temporal bone by micro-computed tomography and reconstruction of round window (RW) niche, realizing hydrogel in situ implantation completely, NAM sustained-release and long-term auditory preservation in mice. This study strongly supports personalized PGMA@NAM as NIHL protection drug with effective inner ear delivery, providing new inspiration for drug-based treatment of NIHL.

Whole-brain spatial organization of hippocampal single-neuron projectomes.

Mapping single-neuron projections is essential for understanding brain-wide connectivity and diverse functions of the hippocampus (HIP). Here, we reconstructed 10,100 single-neuron projectomes of mouse HIP and classified 43 projectome subtypes with distinct projection patterns. The number of projection targets and axon-tip distribution depended on the soma location along HIP longitudinal and transverse axes. Many projectome subtypes were enriched in specific HIP subdomains defined by spatial transcriptomic profiles. Furthermore, we delineated comprehensive wiring diagrams for HIP neurons projecting exclusively within the HIP formation (HPF) and for those projecting to both intra- and extra-HPF targets. Bihemispheric projecting neurons generally projected to one pair of homologous targets with ipsilateral preference. These organization principles of single-neuron projectomes provide a structural basis for understanding the function of HIP neurons.

Does reciprocal translocation affect the meiotic segregation products of non-translocation chromosomes?

This retrospective cohort study aimed to assess the effect of chromosomal reciprocal translocation on meiotic segregation products of non-translocation chromosomes. A total of 744 reciprocal translocation carriers and 875 non-carriers were included in this study. A total of 6,832 blastocysts were biopsied and tested by next-generation sequencing. Blastocysts from the carrier group were classified into five subgroups according to the theoretical segregation pattern of quadrivalent structure. For carrier patients, normal meiotic segregation products of the non-translocation chromosome were classified after excluding the segregation modes of the quadrivalent structure. The proportion of normal non-translocation chromosome meiotic segregation products was similar between the carrier and noncarrier groups (p = 0.69). The generalized Estimation Equation revealed that there was no correlation between reciprocal translocation and meiotic segregation products of non-translocation chromosomes. Moreover, subgroup analyses showed that the segregation modes of quadrivalent structure (p = 0.00) and carrier's gender (p = 0.00) may affect the meiotic segregation products of non-translocation chromosomes. In conclusion, reciprocal translocation does not directly reduce the proportion of normal segregation products of non-translocation chromosomes. The difference among subgroups of different quadrivalent segregation patterns implied that interchromosomal effect may exist but the high incidence of chromosomal abnormalities for reciprocal translocation carriers should not be attributed to interchromosomal effect.

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.

Pituitary stalk interruption syndrome and liver cirrhosis associated with diabetes and an inactivating KCNJ11 gene mutation: a case report and literature review.

Background: Pituitary stalk interruption syndrome (PSIS) is a congenital disease commonly found in patients with combined pituitary hormone deficiency (CPHD). Most PSIS patients manifest growth retardation and delayed puberty. We report a rare case of PSIS with tall stature, liver cirrhosis and diabetes, possibly caused by an inactivating KCNJ11 gene mutation. Case presentation: A 37-year-old female patient initially presented with liver cirrhosis and diabetes, without any secondary sexual characteristics. Endocrine investigation indicated CPHD. Small anterior pituitary, invisible pituitary stalk and no eutopic posterior lobe hypersignal in the sella turcica viewed in magnetic resonance imaging (MRI) confirmed the diagnosis of PSIS. Despite receiving no growth hormone or sex hormone therapy, she reached a final height of 186 cm. Liver histopathology revealed nonalcoholic fatty cirrhosis. Genetic testing identified a heterozygous p.Arg301Cys mutation in the KCNJ11 gene. Conclusion: This is a rare case of PSIS with liver cirrhosis and diabetes associated with an inactivating KCNJ11 gene mutation. It's supposed that early hyperinsulinism caused by the KCNJ11 gene mutation, as well as delayed epiphyseal closure due to estrogen deficiency, contributed to the patient's exceptionally tall stature. Untreated growth hormone deficiency (GHD) resulted in increased visceral fat, leading to nonalcoholic fatty liver disease (NAFLD) and cirrhosis. The decline in ß cell function with age, combined with NAFLD, may have played a role in the development of diabetes.

Differential regulation of hair cell actin cytoskeleton mediated by SRF and MRTFB.

The MRTF-SRF pathway has been extensively studied for its crucial role in driving the expression of a large number of genes involved in actin cytoskeleton of various cell types. However, the specific contribution of MRTF-SRF in hair cells remains unknown. In this study, we showed that hair cell-specific deletion of Srf or Mrtfb, but not Mrtfa, leads to similar defects in the development of stereocilia dimensions and the maintenance of cuticular plate integrity. We used fluorescence-activated cell sorting-based hair cell RNA-Seq analysis to investigate the mechanistic underpinnings of the changes observed in Srf and Mrtfb mutants, respectively. Interestingly, the transcriptome analysis revealed distinct profiles of genes regulated by Srf and Mrtfb, suggesting different transcriptional regulation mechanisms of actin cytoskeleton activities mediated by Srf and Mrtfb. Exogenous delivery of calponin 2 using Adeno-associated virus transduction in Srf mutants partially rescued the impairments of stereocilia dimensions and the F-actin intensity of cuticular plate, suggesting the involvement of Cnn2, as an Srf downstream target, in regulating the hair bundle morphology and cuticular plate actin cytoskeleton organization. Our study uncovers, for the first time, the unexpected differential transcriptional regulation of actin cytoskeleton mediated by Srf and Mrtfb in hair cells, and also demonstrates the critical role of SRF-CNN2 in modulating actin dynamics of the stereocilia and cuticular plate, providing new insights into the molecular mechanism underlying hair cell development and maintenance.

A Chinese case of CHST3-related skeletal dysplasia and a systematic review.

PURPOSE: We reported a case with carbohydrate sulfotransferase 3 (CHST3) spondyloepiphyseal dysplasia and made a systematic review of all previously reported cases. METHODS: A 14.8-year-old boy underwent clinical, radiological, and genetic evaluations. The patients and five age-matched healthy boys accepted high-resolution peripheral quantitative computed tomography evaluation. All CHST3-related skeletal dysplasia cases from PubMed and Embase were collected and summarized. The genotype-phenotype correlation was analyzed. RESULTS: The proband complained of aggravated joint pain and had a compression fracture of L2 during his second decade. Physical examination showed a height Z score of -4.94, short limbs, and restricted movement of the elbows and knees. X-rays showed carpal epiphyseal dysplasia, enlargement of elbow and knee joints, and subluxation of the left hip. Echocardiography showed abnormal cardiac valves. Compared with the norm, his total and trabecular volumetric bone mineral density (BMD), and the microarchitecture of the trabecular bone had trends to be worse at the distal radius and tibia. Two novel missense variants of c.1343T>G and c.761C>G in CHST3 were inherited from his father and mother, respectively. In the systematic review, short stature, limited joint extension, joint pain, and joint dislocation were the most common characteristics of this disorder. Height Z score and the proportion of hearing impairment had no significant differences between the missense and nonmissense mutations groups. CONCLUSION: Progressive joint pain and movement restriction are the main characteristics of CHST3-related skeletal dysplasia. BMD and bone microarchitecture of this disorder needs further exploration. There is no apparent genotype-phenotype correlation in this disorder.