Exosomes from senescent epithelial cells activate pulmonary fibroblasts via the miR-217-5p/Sirt1 axis in paraquat-induced pulmonary fibrosis.

BACKGROUND: Paraquat (PQ) is a widely used and highly toxic herbicide that poses a significant risk to human health. The main consequence of PQ poisoning is pulmonary fibrosis, which can result in respiratory failure and potentially death. Our research aims to uncover a crucial mechanism in which PQ poisoning induces senescence in epithelial cells, ultimately regulating the activation of pulmonary fibroblasts through the exosomal pathway. METHODS: Cellular senescence was determined by immunohistochemistry and SA-ß-Gal staining. The expression of miRNAs was measured by qPCR. Pulmonary fibroblasts treated with specific siRNA of SIRT1 or LV-SIRT1 were used to analysis senescent exosomes-mediated fibroblasts activation. Luciferase reporter assay and western blot were performed to elucidated the underlying molecular mechanisms. The effects of miR-217-5p antagomir on pulmonary fibrosis were assessed in PQ-poisoned mice models. RESULTS: Impairing the secretion of exosomes effectively mitigates the harmful effects of senescent epithelial cells on pulmonary fibroblasts, offering protection against PQ-induced pulmonary fibrosis in mice. Additionally, we have identified a remarkable elevation of miR-217-5p expression in the exosomes of PQ-treated epithelial cells, which specifically contributes to fibroblasts activation via targeted inhibition of SIRT1, a protein involved in cellular stress response. Remarkably, suppression of miR-217-5p effectively impaired senescent epithelial cells-induced fibroblasts activation. Further investigation has revealed that miR-217-5p attenuated SIRT1 expression and subsequently resulted in enhanced acetylation of ß-catenin and Wnt signaling activation. CONCLUSION: These findings highlight a potential strategy for the treatment of pulmonary fibrosis induced by PQ poisoning. Disrupting the communication between senescent epithelial cells and pulmonary fibroblasts, particularly by targeting the miR-217-5p/SIRT1/ß-catenin axis, may be able to alleviate the effects of PQ poisoning on the lungs.

Efficient Photocatalytic Activation of Peroxymonosulfate by Cobalt-Doped Oxygen-Vacancies-Rich BiVO4 for Rapid Tetracycline Degradation.

In this work, cobalt-doped oxygen-vacancies-rich BiVO4 (Co/BiVO4-Vo) was successfully synthesized for the degradation of tetracycline (TC) by activated peroxymonosulfate (PMS) under visible light. The morphologies, microstructures, and optical properties of the photocatalysts were analyzed in detail. Co/BiVO4-Vo exhibited significantly enhanced degradation, removing 92.3% of TC within 10 min, which was greater than those of pure BiVO4 (62.2%) and oxygen-vacancies-rich BiVO4 (BiVO4-Vo) (72.0%), respectively. The photogenerated charge separation and transport properties were explored through surface photovoltage (SPV), photoluminescence spectrum (PL), and UV-vis diffuse reflectance spectroscopy (UV-vis DRS) measurements. Additionally, an in-depth investigation was conducted on the photocatalytically assisted advanced oxidation processes based on SO4•- (SR-AOPs) for the degradation of organic pollutants. The experimental results showed that the introduction of oxygen vacancies and Co doping achieved an effective separation of photogenerated carriers, which could accelerate the cycling between Co3+ and Co2+ and further activate PMS. The results of free radical capture experiments and electron spin resonance (ESR) experiments showed that reactive oxygen species (ROSs) such as 1O2, •O2-, and SO4•- played a dominant role in the removal of pollutants. This work provides a novel insight into the further development of efficient and rapid PMS photoactivators for environmental remediation of water bodies.

Matrix Metalloproteinase-7 Associated with Congestive Heart Failure in Peritoneal Dialysis Patients: A Prospective Cohort Study.

Background: Matrix metalloproteinase-7 (MMP7) is markedly expressed in patients with chronic kidney disease; its expression in dialysate and role in patients undergoing peritoneal dialysis (PD) have not been well established. Methods: Participants undergoing PD from June 1st, 2015, to June 30th, 2020, were involved and were followed up every 3 months for the first year and every 6 months thereafter until death, PD withdrawal, or the end of the study. Data at each follow-up point were collected and analyzed for the association with congestive heart failure (CHF), PD withdrawal, and combined endpoint. Results: A total of 283 participants were included in this study. During a median follow-up of 21 months, 20 (7%) participants died, 93 (33%) withdrew from PD, and 105 (37%) developed CHF. A significantly increased level of serum and dialysate MMP7 was observed at baseline. Dialysate MMP7 presented a good linearity with serum MMP7. Baseline serum and dialysate MMP7 levels were associated with CHF in multivariable Cox proportional hazards regression models. After categorization, participants with high baseline MMP7 levels had a higher incidence of CHF (42%), and the hazard ratios (95% confidence intervals) were 1.595 (1.023-2.488). Interestingly, participants with higher serum MMP7 levels were trended to use dialysate with higher glucose concentration. However, the ultrafiltration volumes were not significantly increased. Higher MMP7 levels were also positively associated with PD withdrawal and combined endpoint. Conclusions: The expression of MMP7 in serum and dialysate was markedly increased and was tightly associated with the risk of CHF in PD patients. This finding suggests that the measurement of MMP7 may inform strategies for managing CHF at an earlier stage.

N-Doped TiO2 Coupled with Manganese-Substituted Phosphomolybdic Acid Composites As Efficient Photocatalysis-Fenton Catalysts for the Degradation of Rhodamine B.

The effectiveness of photocatalytic and Fenton reactions in the synergistic treatment of water pollution problems has become indisputable. In this paper, nitrogen-doped TiO2 was selected as the catalyst for the photocatalytic reaction and manganese-substituted phosphomolybdic acid was used as the Fenton reagent, the two of which were combined together by acid impregnation to construct a binary photocatalysis-Fenton composite catalyst. The degradation experiments of the composite catalyst on RhB indicated that under UV-vis irradiation, the composite catalyst could degrade RhB almost completely within 8 min, and the degradation rate was 19.7 times higher than that of N-TiO2, exhibiting a superior degradation ability. Simultaneously, a series of characterization methods were employed to analyze the structure, morphology, and optical properties of the catalysts. The results demonstrated that the nitrogen doping not only expanded the photo response range of TiO2 but reduced the work function of TiO2, which facilitated the transfer of electrons to the loaded Mn-HPMo side and further promoted the electron-hole separation efficiency. In addition, the introduction of Mn-HPMo provided three pathways for the activation of hydrogen peroxide, which enhanced the degradation activity. This study provides novel insights into the construction of binary and efficient catalysts with multiple hydroxyl radical generation pathways.

Ammonia induces changes in carbamoyl phosphate synthetase I and its regulation of glutamine synthesis and urea cycle in yellow catfish Pelteobagrus fulvidraco.

Fishes can adapt to certain levels of environmental ammonia in water, but the strategies utilized to defend against ammonia toxicity are not exactly the same. The carbamyl phosphate synthase I (CPS I) plays an important role in the regulation of glutamine synthesis and urea cycle, which are the most common strategies for ammonia detoxification. In this study, CPS I was cloned from the yellow catfish. The full-length cDNAs of the CPS I was 5 034 bp, with open reading frames of 4 461 bp. Primary amino acid sequence alignment of CPS I revealed conserved similarity between the functional domains of the yellow catfish CPS I protein with CPS I proteins of other animals. The mRNA expression of CPS I was significantly up-regulated in liver and kidney tissues after acute ammonia stress. The CPS I RNA interference (RNAi) down-regulated the mRNA expressions of CPS I and ornithine transcarbamylase (OTC), but up-regulated glutamine synthetase (GS) and glutamate dehydrogenase (GDH) expressions in primary culture of liver cell after acute ammonia stress. Similarly, the activity of enzymes related to urea cycle decreased significantly, while the activity of enzymes related to glutamine synthesis increased significantly. The results of RNAi in vitro suggested that when the urea cycle is disturbed, the glutamine synthesis will be activated to cope with ammonia toxicity.

First report of leaf spot and stem blight on blueberry (Vaccinium corymbosum cv. Bluerain) caused by Calonectria pseudoreteaudii in China.

Blueberry has high nutritional value and is one of the five healthy fruits. In 2018, leaf spots and stem blights were observed on Vaccinium corymbosum cv. Bluerain in Guangzhou, Guangdong Province, China. Up to 80% of the plants were affected. Initial symptoms of affected leaves were red-brown, irregular, small spots, which gradually coalesced and formed larger irregular necrotic patches. The affected stems showed red-brown and irregular large lesions. Diseased tissues were surface sterilized with 75% alcohol for 15 s, followed by 2.5% NaClO for 30 s, and rinsing three times in sterile distilled water, placed on potato dextrose agar (PDA) and incubated at 25 C. Representative strains, ZHKUCC 21-0021 from diseased leaves and ZHKUCC 21-0073 from diseased stems, were selected for further studies. Colonies grew slowly at 25 C on malt extract agar (MEA) (average 5.68 mm/d), producing white aerial mycelium and red-brown color on the underside after 7 days. Macroconidiophores were hyaline, smooth, consisting of a stipe bearing fertile branches, and a stipe extension terminating in a vesicle. Each terminal branch produced 2-4 phialides, 8-13 × 3-6 µm, reniform or doliiform; Stipe extensions were septate, terminating in a narrowly clavate vesicle, 2-6 µm. Macroconidia were hyaline, straight cylindrical, round at both ends, 83-100 × 7-11 µm (average = 94 × 8 µm; n = 50), with 5 septa. These morphological characteristics were similar to the description of Calonectria pseudoreteaudii (Lombard et al., 2010). The partial calmodulin (cmdA), beta-tubulin (ß-tubulin), and translation elongation factor 1-alpha (tef1-α) genes of the two isolates were respectively amplified using primers CAL-228F/CAL-737R (Carbone et al., 1999), EF1-728F/EF2 and T1/CYLTUB1R (Lombard et al., 2015), and sequences were deposited in GenBank (cmdA: MZ516854 and MZ516855; ß-tubulin: MZ516858 and MZ516859; tef1-α: MZ516856 and MZ516857). BLAST analysis of three gene sequences showed 100% similarity to those of C. pseudoreteaudii. In the maximum likelihood (ML) tree of the concatenated sequences of the three genes, the two isolates from this study were clustered with C. pseudoreteaudii with 100% bootstrap support. Five-mm-diameter hyphal plugs of two representative isolates grown on PDA for five days were used in the pathogenicity test. Leaves were inoculated with ZHKUCC 21-0021, and stems were inoculated with ZHKUCC 21-0073 with five replicates. As controls, sterile PDA plugs were used. All inoculated plants were maintained at 25 C . After 7 days, inoculated leaves and stems developed symptoms similar to field samples, whereas the control plants remained asymptomatic. The pathogen was reisolated from inoculated plants and confirmed to be C. pseudoreteaudii by morphological characteristics. Five Calonectria species (C. canadensis, C. colhounii, C. ilicicola, C. kyotensis and C. pyrochroa), have been reported associated with blueberry (Farr and Rossman, 2022; Fei et al, 2017). Calonectria canadensis and C. ilicicola have been reported to cause stem blight and stem rot in Vaccinium spp. in China (Fei et al, 2017 and 2018). Calonectria colhounii has been reported to cause stem blight in V. angustifolium and V. corymbosum in the United States (Sadowsky et al, 2011). However, this is the first report of C. pseudoreteaudii causing leaf spot and stem blight on Vaccinium spp. worldwide. These results will provide a foundation for future research on prevention and control of this disease.

Modular Construction of Heterobiaryl Atropisomers and Axially Chiral Styrenes via All-Carbon Tetrasubstituted VQMs.

Here we report a new type of chiral all-carbon tetrasubstituted VQMs generated via chiral phosphoric acids catalyzed nucleophilic addition of 2-alkynylnaphthols to o-quinone methides or imines, which can be captured intramolecularly as a result of cycloaddition reaction. A new class of naphthyl-2H-chromenes bearing axially and centrally chiral elements and axially chiral quinone-naphthols were prepared efficiently with good to excellent yields, diastereoselectivities and enantioselectivities. Noteworthy, the enantioselective cycloaddition of alkynylnaphthols with o-quinone methides proceeded via a [2+2] cycloaddition, followed by a retro-4π-electrocyclization and a 6π re-cyclization. While the cycloaddition of alkynylnaphthols with imines proceeded via a sequential [2+4] cycloaddition and an auto oxidation reaction. Moreover, the obtained axially chiral naphthols can be converted into valuable phosphine ligands and other functional molecules.

Investigation on Al3+ and Al2O3 Coexist in BiVO4 for Efficient Methylene Blue Degradation: Insight into Surface States and Charge Separation.

A series of Al-doped BiVO4 composites have been synthesized via the hydrothermal method for methylene blue (MB) degradation application. The reasons for the improvement of photocatalytic performance was explained from the perspective of optics. Transient photovoltage (TPV) measurements suggested that the surface states have the priority to capture photogenerated carriers, and the Al2O3 surface passivation layer can prolong the lifetime of charge carrier. The results of surface photovoltage (SPV), transient photovoltage (TPV), and surface photocurrent (SPC) measurements suggested that the coexistence of Al3+ and Al2O3 caused by the appropriate doping would improve the transfer property and prolong the lifetime of photogenerated carriers. Finally, the possible photocatalytic mechanism is expounded to illustrate the photogenerated charge behavior under visible light irradiation. This work provides a better understanding of the synergistic effect of Al-doping and Al2O3 passivation layer on enhancing the photocatalytic performance.

Degree and duration of hypokalemia associated with peritonitis in patients undergoing peritoneal dialysis.

BACKGROUND: Hypokalemia (LK) was associated with peritonitis in peritoneal dialysis (PD) patients, while the role of its degree and duration have not been fully established. Here, we conducted a retrospective cohort study to identify the relationships of LK degree and duration with peritonitis in PD patients. METHODS: A total of 602 PD patients in our department from Jan 1st, 2009 to Dec 31st, 2019 entered the last analysis. Data were collected from their medical records. Serum potassium (SK) levels, degree of hypokalemia, and duration of hypokalemia were analysed with peritonitis. The time association of hypokalemia and peritonitis was also analysed. RESULTS: There were totally 320 (53.7%) and 123 (20.7%) patients who had ever suffered from LK and serious hypokalemia (SLK) in the cohort. Only 6.82% and 0.5% of patients had LK and SLK at baseline, while the incidence increased and kept in 25%-32% and 5.5%-8.2% after PD. Both LK (HR 1.437, 95% CI 1.014-2.038, P = .042) and SLK (HR 2.021, 95% CI 1.429-2.857, P < .001) did correlate to peritonitis after adjusted analyses, while only SLK remained the significance at each follow-up point. The LK/SLK durations were 6 (3-12) and 6 (3-6) months, and only longer SLK duration correlated with peritonitis after adjusted analyses. After categorised, those LK durations more than 6 months and SLK durations more than 3 months presented a significant association with peritonitis. Of the patients who suffered from both hypokalemia and peritonitis, 70.4% patients' LK times were earlier than peritonitis time, while most SLK times (62.7%) were later. SLK also correlated with combined endpoint. CONCLUSIONS: Hypokalemia degree and duration were tightly associated with peritonitis. Hypokalemia might be a causal factor of peritonitis, while peritonitis might also aggravate hypokalemia. We should manage SK as much as possible and avoid hypokalemia, especially serious hypokalemia in clinic practice.

A mobile terminal application program was used for endotracheal tube cuff pressure measurement.

We studied the application of a mobile terminal application program in endotracheal tube (ETT) cuff pressure measurement to improve the implementation rate of scientific ETT cuff pressure measurement and to ensure that the pressure falls within the recommended range. A pre-post controlled study lasting for 18 months was undertaken in a 40-bed general intensive care unit (GICU). This included a 6-month baseline period (baseline group) and a 6-month intervention period (intervention group). The mobile terminal application program was applied to monitor the cuff pressure of endotracheal intubation as an intervention measure during the intervention period. ETT pressure was the main outcome measure, while gender, age, causes for ICU admission, sedation score, duration of prior intubation, size of ETT, and number of VAP patients were secondary outcomes. ETT cuff pressure was monitored 742 times in both the baseline group and the intervention group. A total of 56.9% of the cuff pressure measurements in the baseline group were within the recommended range, while 78.4% of measurements in the intervention group were within the recommended range, reflecting a statistically significant difference (P < 0.05). The application of the mobile terminal application program used for ETT cuff pressure measurement could improve the percentage of ETT cuff pressure measurements falling within the recommended range.

Comparing dark- and photo-Fenton-like degradation of emerging pollutant over photo-switchable Bi2WO6/CuFe2O4: Investigation on dominant reactive oxidation species.

The extensive use of tetracycline hydrochloride (TCH) poses a threat to human health and the aquatic environment. Here, magnetic p-n Bi2WO6/CuFe2O4 catalyst was fabricated to efficiently remove TCH. The obtained Bi2WO6/CuFe2O4 exhibited 92.1% TCH degradation efficiency and 50.7% and 35.1% mineralization performance for TCH and raw secondary effluent from a wastewater treatment plant in a photo-Fenton-like system, respectively. The remarkable performance was attributed to the fact that photogenerated electrons accelerated the Fe(III)/Fe(II) and Cu(II)/Cu(I) conversion for the Fenton-like reaction between Fe(II)/Cu(I) and H2O2, thereby generating abundant •OH for pollutant oxidation. Various environmental factors including H2O2 concentration, initial pH, catalyst dosage, TCH concentration and inorganic ions were explored. The reactive oxidation species (ROS) quenching results and electron spin resonance (ESR) spectra confirmed that •O2- and •OH were responsible for the dark and photo-Fenton-like systems, respectively. The degradation mechanisms and pathways of TCH were proposed, and the toxicity of products was evaluated. This work contributes a highly efficient and environmentally friendly catalyst and provides a clear mechanistic explanation for the removal of antibiotic pollutants in environmental remediation.

Pachymic acid protects oocyte by improving the ovarian microenvironment in polycystic ovary syndrome mice†.

Women with polycystic ovary syndrome (PCOS) are characterized by endocrine disorders accompanied by a decline in oocyte quality. In this study, we generated a PCOS mice model by hypodermic injection of dehydroepiandrosterone, and metformin was used as a positive control drug to study the effect of pachymic acid (PA) on endocrine and oocyte quality in PCOS mice. Compared with the model group, the mice treated with PA showed the following changes (slower weight gain, improved abnormal metabolism; increased development potential of GV oocytes, reduced number of abnormal MII oocytes, and damaged embryos; lower expression of ovarian-related genes in ovarian tissue and pro-inflammatory cytokines in adipose tissue). All these aspects show similar effects on metformin. Most notably, PA is superior to metformin in improving inflammation of adipose tissue and mitochondrial abnormalities. It is suggested that PA has the similar effect with metformin, which can improve the endocrine environment and oocyte quality of PCOS mice. These findings suggest that PA has the similar effect with metformin, which can improve the endocrine environment and oocyte quality of PCOS mice.

The effects of graphene quantum dots on the maturation of mouse oocytes and development of offspring.

Recently, graphene nanomaterials have attracted tremendous attention and have been utilized in various fields because of their excellent mechanical, thermal, chemical, optical properties, and good biocompatibility, especially in biomedical aspects. However, there is a concern that the unique characteristics of nanomaterials may have undesirable effects. Therefore, in this study, we sought to systematically investigate the effects of graphene quantum dots (GQDs) on the maturation of mouse oocytes and development of the offspring via in vitro and in vivo studies. In vitro, we found that the first polar body extrusion rate in the high dosage exposure groups (1.0-1.5 mg/ml) 2 decreased significantly and the failure of spindle migration and actin cap formation after GQDs exposure was observed. The underlying mechanisms might be associated with reactive oxygen species accumulation and DNA damage. Moreover, transmission electron microscope studies showed that GQDs may have been internalized into oocytes, tending to accumulate in the nucleus and severely affecting mitochondrial morphology, which included swollen and vacuolated mitochondria accompanied by cristae alteration with a lower amount of dense mitochondrial matrix. In vivo, when pregnant mice were exposed to GQDs at 8.5 days of gestation (GD, 8.5), we found that high dosage of GQD exposure (30 mg/kg) significantly affected mean fetal length; however, all the second generation of female mice grew up normal, attained sexual maturity, and gave birth to a healthy offspring after mating with a healthy male mouse. The results presented in this study are important for the future investigation of GQDs for the biomedical applications.

Automated peritoneal dialysis could rapidly improve left heart failure by increasing peritoneal dialysis ultrafiltration: a single-center observational clinical study
.

Ultrafiltration failure (UFF) is a major cause of water retention, left heart failure (LHF), and peritoneal dialysis (PD) failure. Automated peritoneal dialysis (APD) might have better ultrafiltration (UF) than continuous ambulatory peritoneal dialysis (CAPD). Here, we have studied whether short-term APD could increase UF and improve LHF. 47 patients were included in this study from December 1, 2015, to January 1, 2017. All patients had been treated with CAPD before they came to our center and were treated with APD in the hospital. 24-hour peritoneal UF volume, 24-hour urine volume, body weight, blood pressure, LHF class, serum creatinine, blood urea nitrogen, albumin, potassium, hemoglobin, and glucose were collected and compared before and after receiving short-time APD. A total of 47 patients (31 men, mean age 46.8 ± 16.2 years, mean duration 26 months (2 - 195 months)) were enrolled in this study. Of the 47 patients, peritoneal dialysis UF was significantly increased when receiving short-term APD compared to CAPD (1,261.9 ± 329.6 mL vs. 706.2 ± 222.3 mL, p < 0.001), and body weights had significantly decreased 3 days after treatment with APD (57.73 ± 10.5 vs. 59.81 ± 10.8, p < 0.001). LHF class was significantly decreased 3 days after receiving APD (1.7 ± 0.8 vs. 2.4 ± 1.0, p < 0.001). Blood pressure was well controlled 3 days after treatment with APD (146.6 ± 14.4 vs. 162.5 ± 23.8 of SBP, p = 0.007, and 85.6 ± 11.1 vs. 95.6 ± 14.7 of DBP, p = 0.001). In conclusion, short-term APD could significantly increase ultrafiltration, rapidly alleviate edema and improve LHF, and might be an effective method to treat UFF and LHF in PD patients.
.

Photoelectrical properties of CdS/CdSe core/shell QDs modified anatase TiO2 nanowires and their application for solar cells.

Anatase TiO2 nanowire (NW) films modified with inverted type-I CdS/CdSe core/shell structure QDs have been successfully prepared by the post synthesis ligand-assisted technique. Surface photovoltage (SPV), transient photovoltage (TPV) and transient photocurrent (TPC) measurements demonstrate that CdS/CdSe core/shell structure QD-sensitized TiO2 NWs electrodes favor photoexicited electron injection and charge transfer due to the special photo-electronic features of CdS/CdSe core/shell structure QDs. With a polysulfide electrolyte, the maximum conversion efficiency was 2.18% for CdS/CdSe QDs with the CdSe shell being 4.4 nanometers thick; a PCE of 0.07% for CdS QDs and a PCE of 0.63% for CdSe QDs were obtained under illumination at 100 mW cm-2. The results reveal that the CdS/CdSe core/shell structure QDs sensitized TiO2 NW electrodes have promising applications in solar cells.

[Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].

OBJECTIVE: To identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members. METHODS: Total RNA and genomic DNA were extracted from the peripheral blood samples derived from the proband and her family members. Sequences of 7 exons of the AR gene were amplified with reverse transcriptase PCR(RT-PCR) and subjected to direct sequencing. Suspected mutation was also analyzed with PCR-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing. RESULTS: DNA sequencing has revealed a nucleotide change (2880A>G) in the pedigree, which resulted in a missense mutation (R840H). CONCLUSION: A prenatal diagnostic method was established for detecting mutation of the AR gene in the pedigree. Long chain RT-PCR was first used for the detection of AR gene mutations.

[Phenotypic and genetic analysis of an inv dup(15) case with a BP3:BP3 rearrangement].

OBJECTIVE: To analyze a case of supernumerary marker chromosome (SMC) with combined genetic techniques and explore its correlation with the clinical phenotype. METHODS: The SMC was analyzed with G-banded karyotyping, multiplex ligation dependent probe amplification (MLPA), fluorescence in situ hybridization (FISH), and single nucleotide polymorphism array (SNP-array). RESULTS: G-banding analysis indicated that the patient has a karyotype of 47,XX,+mar. MLPA showed that there were duplications of proximal 15q. FISH assay using D15Z4 probes indicated that the SMC was a pseudodicentric chromosome derived from chromosome 15. And SNP-array revealed that there were two extra copies of 15q11-13 region spanning from locus 20 161 372 to 29 071 810. CONCLUSION: The duplication of Prader-Willi/Angelman syndrome critical region probably underlies the abnormal phenotype of the inv dup(15) case with a BP3:BP3 rearrangement.

Hybrid minigene splicing assay verified the pathogenicity of a novel splice site variant in the dystrophin gene of a Chinese patient with typical Duchenne muscular dystrophy phenotype.

BACKGROUND: Duchenne muscular dystrophy (DMD) is typically caused by disrupting the reading frame of the dystrophin gene: approximately 70%-80% of mutational events are represented by deletions or duplications of one or more exons in the dystrophin gene, and the remaining cases by subtle mutations, including point mutations, small indels, small inversions, and complex small rearrangements. The dystrophin gene is the largest known gene with one of the highest known rates of new mutations. METHODS: Deletions and duplications were detected in the DMD gene of the proband by using multiple ligation-dependent probe amplification (MLPA). Targeted next-generation sequencing (NGS) was used in the subtle mutation detection, followed by Sanger sequencing confirmation. The effect of the mutation on the splicing of the DMD gene was assessed by bioinformatics prediction and hybrid minigene splicing assay (HMSA). RESULTS: Neither duplication nor deletion was found in the DMD gene of the proband. While a novel splice site mutation c.6762+1G>C was identified in the proband by NGS and Sanger sequencing, and his mother was heterozygous at the same site. Bioinformatics predicted that the 5' donor splice site of intron 46 disappeared because of the mutation, which would lead to aberrant splicing and introduce premature stop codon. The HMSA results were in agreement with the prediction. CONCLUSIONS: The novel splice site mutation caused DMD in the proband by aberrant splicing. We suggested that combined applications of MLPA, NGS, HMSA and bioinformatics are comprehensive and effective methods for diagnosis and aberrant splicing study of DMD.

Electron acceptor of Ni decorated porous carbon nitride applied in photocatalytic hydrogen production.

Nickel, a non-noble metal, is one of the most promising candidates for photocatalysis because it is inexpensive and an earth-abundant metal. Herein, Ni/CM-C3N4 nanocomposites with Ni as a cocatalyst were synthesized by a simple solvothermal method. Field emission scanning electron microscopy (FESEM), transmission electron microscopy (TEM) and X-ray diffraction (XRD) confirmed that Ni nanoparticles were loaded onto the surface of CM-C3N4. The prepared Ni/CM-C3N4 nanocomposites exhibited an enhanced hydrogen evolution activity. The most active catalyst contained 10% Ni and produced H2 at a rate of 313.2 µmol h-1 g-1, which was obviously higher than that of pure CM-C3N4. The results of photoluminescence (PL) and photoacoustics (PA) studies indicated that the recombination efficiency of photo-induced electron-hole pairs was decreased for CM-Ni10 as compared to that for unmodified CM-C3N4. The transient photovoltage (TPV) measurements directly demonstrated that the recombination time of electron-hole pairs in CM-Ni10 was prolonged. More importantly, the reversed surface photovoltage (SPV) and the declined surface photocurrent (SPC) response of CM-Ni10 revealed that the photogenerated electrons could be trapped by Ni, leading to a better separation efficiency and a superior hydrogen production. Finally, the possible mechanism is proposed to illuminate the photogenerated charge behavior between CM-C3N4 and Ni, which might provide a theoretical basis to develop efficient cocatalysts for photocatalytic water splitting.

The complete genome sequence of a novel mycovirus from Alternaria longipes strain HN28.

The complete nucleotide sequence of Alternaria longipes dsRNA virus 1 (AlRV1), a novel double-stranded RNA (dsRNA) mycovirus, was determined and analyzed. AlRV1-HN28 contains a single dsRNA genome segment 3415 base pairs in length (excluding the 3' poly(A) tail) and was predicted to contain two discontiguous open reading frames (ORFs, ORF A and ORF B). The 5'-proximal ORF A (1182 nt) potentially encodes a protein of 394 amino acids (aa) with a predicted molecular mass of 43 kDa; this protein showed no significant similarities to any other sequences in any of the NCBI protein databases. The 3'-proximal ORF B (1737 nt) encodes a protein of 579 aa with a predicted molecular mass of 65 kDa; this protein sequence shares similarities with the conserved domains of RNA-dependent RNA polymerases of other mycoviruses. Phylogenetic analysis indicated that AlRV1-HN28 was closely related to four other unclassified viruses, which suggests that the AlRV1-HN28 isolated from Alternaria longipes may belong to a new family of dsRNA mycoviruses. This is the first report of the full-length nucleotide sequence of a mycovirus that infects Alternaria longipes.