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Abstract Salt bladders, specialized structures on the surface of quinoa leaves, secrete Na+ to mitigate the effects of the plant from abiotic stresses, particularly salt exposure. Understanding the development of these structures is crucial for elucidating quinoa’s salt tolerance mechanisms. In this study, we employed transmission electron microscopy to detail cellular differentiation across the developmental stages of quinoa salt bladders. To further explore the developmental trajectory and underlying molecular mechanisms, we conducted single-cell RNA sequencing on quinoa protoplasts derived from young leaves. This allowed us to construct a cellular atlas, identifying 13 distinct cell clusters. Through pseudotime analysis, we mapped the developmental pathways of salt bladders and identified regulatory factors involved in cell fate decisions. GO and KEGG enrichment analyses, as well as experimental results, revealed the impacts of salt stress and the deprivation of sulfur and nitrogen on the development of quinoa salt bladders. Analysis of the transcription factor interaction network in pre-stalk cells (pre-SC), stalk cells (SC), and epidermal bladder cells (EBCs) indicated that TCP5, YAB5, NAC078, SCL8, GT-3B, and T1P17.40 play crucial roles in EBC development. Based on our findings, we developed an informative model elucidating salt bladder formation. This study provides a vital resource for mapping quinoa leaf cells and contributes to our understanding of its salt tolerance mechanisms.

BackgroundThe standardized extract of milk thistle seeds, known as silibinin, has been utilized in herbal medicine for over two centuries, with the aim of safeguarding the liver against the deleterious effects of various toxic substances. However, the role of silibinin in Particulate Matter (PM2.5)-induced intrahepatic triglyceride accumulation remains unclear. This study seeks to investigate the impact of silibinin on PM2.5-induced intrahepatic triglyceride accumulation and elucidate potential underlying mechanisms.MethodsA model of intrahepatic triglyceride accumulation was established in male C57BL/6J mice through intratracheal instillation of PM2.5, followed by assessment of liver weight, body weight, liver index, and measurements of intrahepatic triglycerides and cholesterol after treatment with silibinin capsules. Hep G2 cells were exposed to PM2.5 suspension to create an intracellular triglyceride accumulation model, and after treatment with silibinin, cell viability, intracellular triglycerides and cholesterol, fluorescence staining for Nile Red (lipid droplets), and DCFH-DA (Reactive Oxygen Species, ROS), as well as proteomics, real-time PCR, and mitochondrial function assays, were performed to investigate the mechanisms involved in reducing triglycerides.ResultsPM2.5 exposure leads to triglyceride accumulation, increased ROS production, elevated expression of inflammatory factors, decreased expression of antioxidant factors, and increased expression of downstream genes of aryl hydrocarbon receptor. Silibinin can partially or fully reverse these factors, thereby protecting cells and animal livers from PM2.5-induced damage. In vitro studies show that silibinin exerts its protective effects by preserving oxidative phosphorylation of mitochondrial complexes I and II, particularly significantly enhancing the function of mitochondrial complex II. Succinate dehydrogenase (mitochondrial complex II) is a direct target of silibinin, but silibinin A and B exhibit different affinities for different subunits of complex II.ConclusionSilibinin improved the accumulation of intrahepatic triglycerides induced by PM2.5, and this was, at least in part, explained by an enhancement of oxidative phosphorylation in mitochondrial Complexes I and II.

Abstract Background Mucopolysaccharidosis type I (MPS‐I) is a rare autosomal recessive genetic lysosomal storage disorder that is caused by pathogenic variants of the α‐L‐iduronidase (IDUA) gene. This study aimed to identify the genetic causes of MPS‐I in a Chinese patient and construct a minigene of IDUA to analyze its variants upon splicing. Methods Whole‐exome sequencing (WES) and Sanger sequencing were used to confirm the potential causative variants. Single‐nucleotide polymorphism (SNP) array was subsequently performed to confirm uniparental disomy (UPD). Minigene assay was performed to analyze the effect on splicing of mRNA. We meanwhile explored the conservative analysis and protein homology simulation. Results A novel homozygous splicing mutation of IDUA, c.159‐9T>A, was identified in an individual presenting with overlapping features of MPS‐I. Interestingly, only the father and sisters, but not the mother, carried the variant in a heterozygous state. WES and SNP array analyses validated paternal UPD on chromosome 4. Minigene splicing revealed two aberrant splicing events: exon 2 skipping and intron 1 retention. Moreover, the specific structure of the mutant protein obviously changed according to the results of the homologous model. Conclusions This study describes a rare autosomal recessive disorder with paternal UPD of chromosome 4 leading to the homozygosity of the IDUA splicing variant in patients with MPS‐I for the first time. This study expands the variant spectrum of IDUA and provides insights into the splicing system, facilitating its enhanced diagnosis and treatment.

Abstract Background Severe combined immunodeficiency (SCID) is a group of fatal primary immunodeficiencies characterized by the severe impairment of T-cell differentiation. IL7R deficiency is a rare form of SCID that usually presents in the first months of life with severe and opportunistic infections, failure to thrive, and a high risk of mortality unless treated. Although recent improvements in early diagnosis have been achieved through newborn screening, few IL7R-related SCID patients had been reported in the Chinese population. Case presentation Here, we retrospectively analyzed a case of SCID in a 5-month-old girl with symptoms, including severe T-cell depletion, recurrent fever, oral ulcers, pneumonia, hepatosplenomegaly, bone marrow hemophagocytosis, and bacterial and viral infections. Whole-exome sequencing (WES), quantitative PCR (qPCR), and chromosome microarray analysis (CMA) were performed to identify the patient’s genetic etiology. We identified a 268 kb deletion and a splicing variant, c.221 + 1G > A, in the proband. These two variants of IL7R were inherited from the father and mother. Conclusions To our knowledge, this is the first report of whole IL7R gene deletion in combination with a pathogenic splicing variant in a patient with SCID. This deletion also expands the pathogenic variation spectrum of SCID caused by IL7R. The incorporation of exome-based copy number variant analysis makes WES a powerful molecular diagnostic technique for the clinical diagnosis of pediatric patients.

Abstract Background Rhizomelic limb shortening with dysmorphic features (RLSDF) has already been a disorder of the rare autosomal recessive skeletal dysplasia, just having a few reported cases. RLSDF is caused by protein kinase domain containing, cytoplasmic(PKDCC)gene variants. In this study, we describe the clinical features and potential RLSDF molecular etiology in a fetus from China. Methods Genomic DNA (gDNA) extracted from the fetal muscle tissue and parents’ peripheral blood was subjected to chromosomal microarray analysis (CMA) and trio-based whole exome sequencing (Trio-WES). The candidate pathogenic variants were verified by using Sanger sequencing. Results Trio-WES identified two compound heterozygous variants in PKDCC, c.346delC (p.Pro117Argfs*113) and c.994G > T (p.Glu332Ter), inherited from the father and mother, respectively. Both variants are classified as pathogenic according to American College of Medical Genetics and Genomics guidelines. Conclusions We reported the first prenatal case of RLSDF caused by PKDCC in the Chinese population. Our findings extended the variation spectrum of PKDCC and emphasized the necessity of WES for the early diagnosis of skeletal dysplasia and other ultrasound structural abnormalities in fetuses.

Introduction Understanding the clinical core competence of nursing students in higher vocational colleges is crucial for adjusting the nursing core curriculum and training of nursing professionals. However, little is known about the level of clinical core competence of higher vocational nursing students in China. Objective To investigate nursing students’ clinical core competence in the school of nursing and health at a vocational and technical college in Guangdong, China. Methods The Core Competency Scale for Registered Nurses in China was used to evaluate the clinical core competence of higher vocational nursing students from February to March 2022. Data were analyzed by descriptive statistics, Mann-Whitney U test and Kruskal–Wallis test. Results A total of 1,120 nursing students were investigated, 1,069 were valid questionnaires, and the response rate was 95.4%. The total score of core competence score of higher vocational nursing students was 176.55 ± 43.95, only 43.3% of students obtained an overall score more than 178, and 47.7% of students scored between 116 and 178 scores. The lowest score was on critical thinking and scientific research (2.72 ± 0.77) following by clinical nursing (2.85 ± 0.80), which had differences in gender, category of students, and years of study. There were differences in the total average score of core competence in terms of gender and category of students. Leadership and interpersonal relationships differ significantly by gender, while professional development, teaching, and coaching differ significantly by category of student. Conclusions The findings revealed the core competence of higher vocational nursing students is at a medium level. Moreover, critical thinking and scientific research, and clinical nursing ability are significantly insufficient.

Cenchrus alopecuroides Thunb. 1794 is a warm-season ornamental grass with glossy foliage and showy inflorescence, which is widely distributed from eastern Asia to Australia. Although this species is of great economic importance, little genomic sequence data are available. Here, we report the complete chloroplast genome sequence of C. alopecuroides, which provides valuable plastid genomic resources for further studies on this ornamental grass. The chloroplast genome of C. alopecuroides was 138,053 bp in length and exhibited a typical quadripartite structure, which comprised a pair of inverted repeat regions (22,331 bp) separated by a large (81,177 bp) and a small single copy (12,214 bp) region. In total, 110 unique genes were annotated in the chloroplast genome, containing 76 protein-coding genes, 30 transfer RNAs and four ribosomal RNAs. The overall GC content of the chloroplast genome was 38.6%. Phylogenetic analysis based on 11 whole-chloroplast genome sequences of Cenchrus species suggested that C. alopecuroides and C. compressus were sisters to each other and joint sisters to C. clandestinus.

We demonstrate a low phase noise all polarization-maintaining (PM) Er-fiber optical frequency comb (OFC) with low phase noise, which is synchronized to the hydrogen maser clock (HMC) using the 18th harmonic of the repetition rate for tight phase locking. The instability of the locked carrier envelope offset frequency is 1.24 × 10−18@1 s, the phase noise of the OFC is −96 dBc/Hz at 1 Hz offset, and the corresponding RMS timing jitter of the repetition rate is 62 fs (1 Hz–1 MHz). The residual frequency instability of the repetition rate (200 MHz) is 1.46 × 10−14@1 s, and the residual phase noise of the OFC normalized to 10 MHz is −138 dBc/Hz at 1 Hz offset and declines to about −160 dBc/Hz at the far-end, much lower than that of the HMC (−122 dBc/Hz at 1 Hz and −156 dBc/Hz at the far-end).

In this study, we present a polarization-multiplexed, erbium-doped dual-comb fiber laser based on an all-polarization-maintaining cavity configuration. We observed that the dual-comb fiber laser easily realized the self-starting mode-locking operation due to the non-linear amplifying loop mirror (NALM) with a non-reciprocal phase shifter. Furthermore, owing to the sharing of the NALM part, the two outputs from this laser configuration had similar center wavelengths, with small different repetition rates (∆frep). In the free-running operation, the standard deviation of relative stability for Δfrep of 2.09 kHz was measured to be 1.59 Hz, and the full width at half-maximum of the relative beat note between the two frequency combs in the optical frequency domain was approximately 1 kHz. These results show that the two frequency combs from this laser configuration have high relative stability and mutual coherence.

The present study was conducted to investigate the effects of high dietary carbohydrate levels on growth performance, enzyme activities, and gene expressions related to liver glucose metabolism and the intestinal microbiota of Lateolabrax maculatus juveniles. Two experimental diets with levels of carbohydrates (20% and 30%, named the NCD group and the HCD group, respectively) were designed to feed L. maculatus (initial weight 9.45 ± 0.03 g) for 56 days. The results showed that, compared with the NCD group, the condition factor (CF) was significantly elevated in the HCD group (p < 0.05). The plasma advanced glycosylation end products (AGEs), glycated serum protein (GSP), total cholesterol (TC), triglycerides (TG), high-density lipoprotein (HDL), low-density lipoprotein (LDL), and glutamate aminotransferase (AST) were significantly higher in the HCD group than those in the NCD group (p < 0.05). The intestinal lipase, chymotrypsin, and α-amylase in the HCD group were significantly higher than those in the NCD group (p < 0.05). The liver superoxide dismutase (SOD), total antioxidant capacity (T-AOC), and catalase (CAT) were significantly lower in the HCD group than in the NCD group (p < 0.05). The liver malondialdehyde (MDA) and hexokinase (HK) levels were significantly higher than those in the NCD group (p < 0.05). In the histopathological findings, liver cells in the HCD group appeared to have many vacuoles, and the number of lipid droplets increased. Compared with the NCD group, the relative expression of liver glucokinase (GK) and glycogen synthetase kinase-3 (GSK3β) genes in the HCD group was significantly increased (p < 0.05), while the relative expression of phosphoenolpyruvate carboxykinase (PEPCK) and glycogen phosphorylase (GP) genes in the HCD group was significantly reduced (p < 0.05). High-throughput 16S rRNA gene sequencing showed that high dietary carbohydrate intake changed the composition and structure of the intestinal microbiota. At the phylum level of the intestinal microbiota, high dietary carbohydrates decreased the relative abundance of Firmicutes and increased the relative abundance of Proteobacteria and Bacteroidetes. At the genus level of the intestinal microbiota, high carbohydrates decreased the relative abundance of Bacillus and increased the relative abundance of Photobacterium and Paraclostridium. From the results of this experiment on L. maculatus, high carbohydrates led to increased condition factor and liver glycogen, lipid deposition, decreased antioxidant capacity of the liver, increased relative abundance of harmful intestinal microorganisms, and disrupted glucose metabolism.

Objectives: To investigate the role of whole exome sequencing (WES) technology in fetuses with skeletal abnormalities (SKA) for establishing an appropriate clinical diagnosis and treatment path. Methods: From April 2019 to August 2020, eight special families were enrolled into the study. Their fetuses showed abnormal SKA by ultrasonic testing during pregnancy, but it is inconsistent with the normal results identified by chromosomal microarray analysis (CMA) of amniotic fluid or abortion. For further diagnosis, WES was performed to detect the causative genes mutations followed by Sanger sequencing. Results: Among of these eight fetuses with SKA, we found more than half of pathogenic mutations were in COL1A1/2 gene, except for a known hotspot mutation in FGFR3 gene (c.1138G>A). Three heterozygous mutations of COL1A1 gene, c.2885G>A p (Gly962Asp), c.994G>A p (Gly332Arg) and c.1002 + 5G>T, were de novo mutations. The c.1002 + 5G>T mutation in COL1A1 was firstly reported. In addition, one fetus carried a novel heterozygous mutation of COL1A1 c.644G>A p (Gly215Asp), which was inherited from the mother. Another novel heterozygous mutation c.2482G>T p (Val828Phe) in the COL1A2 gene was identified in another fetus and was inherited from the father. Among of these COL1A1 mutations, these results might involve in two novel splicing mutations. Conclusion: Our study reported several novel heterozygous mutations which expands the COL1A1/2 mutation spectrum for prenatal diagnosis of SKA. Most importantly, WES technology is necessary as a routine step of the SKA diagnosis before or during pregnancy, combining with the detection of chromosome level.

Background: Scavenger receptor class B (SRB) is a multifunctional protein in animals that participates in physiological processes, including recognition of a wide range of ligands. Astaxanthin is a major carotenoid found in shrimp. However, the molecular mechanism of astaxanthin and SRB protein binding has not been reported. Results: In the present study, a member of the SRB subfamily, named PmSRB, was identified from the transcriptome of black tiger shrimp (Penaeus monodon). The open reading frame of PmSRB was 1557 bp in length and encoded 518 amino acids. The structure of PmSRB included a putative transmembrane structure at the N-terminal region and a CD36 domain. Multiple sequence alignment indicated that the CD36 domain were conserved. Phylogenetic analysis showed four separate branches (SRA, SRB, SRC, and croquemort) in the phylogenetic tree and that PmSRB was clustered with SRB of Eriocheir sinensis. Quantitative real-time polymerase chain reaction showed that the PmSRB gene was widely expressed in all tissues tested, with the highest expression level observed in the lymphoid organ and brain. Subcellular localization analysis revealed that PmSRB-GFP (green fluorescent protein) fusion proteins were predominantly localized in the cell membrane. The recombinant proteins of PmSRB showed binding activities against astaxanthin in vitro. Conclusions: PmSRB was identified and characterized in this study. It is firstly reported that PmSRB may take as an important mediator of astaxanthin uptake in shrimp.How to cite: Fan S, Wang F, Xie Z, et al. Molecular characterization and functional analysis of scavenger receptor class B from black tiger shrimp (Penaeus monodon). Electron J Biotechnol 2021; 51. https://doi.org/10.1016/j.ejbt.2021.03.003

ObjectivesThe purpose of this study was to investigate the association of neutrophil percentage-to-albumin ratio (NPAR) with the severity at admission and discharge (short-term prognosis) in patients with anti-N-methyl-D-aspartic acid receptor (NMDAR) encephalitis.MethodsMultivariable logistic regression models such as NPAR were constructed based on univariable regression results. Receiver operating characteristic (ROC) curves, nomograms, and concordance index (c-index) were used to evaluate the efficacy of the models in assessing disease severity at admission and predicting short-term prognosis, validated by bootstrap, Hosmer–Lemeshow goodness-of-fit test, calibration curves, and decision curve analysis.ResultsA total of 181 patients with anti-NMDAR encephalitis diagnosed at the First Affiliated Hospital of Zhengzhou University were included. The results showed that NPAR had good sensitivity and specificity in assessing disease severity at admission and predicting short-term prognosis. The multivariable logistic regression models based on NPAR and other influencing factors had good discrimination, consistency, accuracy, calibration ability, applicability, and validity in assessing the severity at admission and predicting short-term prognosis.ConclusionNPAR has good clinical value in assessing disease severity at admission and predicting short-term prognosis of patients with anti-NMDAR encephalitis.

The insulin-like growth factor 2 gene (igf2) is thought to be a key factor that could regulate animal growth. In fish, few researchers have reported on the single nucleotide polymorphisms (SNPs) located in igf2 and their association with growth traits. We screened the SNPs of igf2 from the spotted sea bass (Lateolabrax maculatus) by Sanger sequencing and made an association between these SNPs with growth traits. The full-length complementary (c) DNA of igf2 was 1045 bp, including an open reading frame of 648 bp. The amino acid sequence of Igf2 contained a signal peptide, an IGF domain, and an IGF2_C domain. Multiple sequence alignment showed that the IGF domain and IGF2_C domain were conserved in vertebrates. The genome sequence of igf2 had a length of 6227 bp. Fourteen SNPs (13 in the introns and one in one of the exons) were found in the genome sequence of igf2. Four SNPs located in the intron were significantly associated with growth traits (p < 0.05). These results demonstrated that these SNPs could be candidate molecular markers for breeding programs in L. maculatus.

Summary: Ruditapes philippinarum is an economically important bivalve with remarkable diversity in its shell coloration patterns. In this study, we sequenced the whole genome of the Manila clam and investigated the molecular basis of its adaptation to hypoxia, acidification, and parasite stress with transcriptome sequencing and an RNA sequence analysis of different tissues and developmental stages to clarify these major issues. A number of immune-related gene families are expanded in the R. philippinarum genome, such as TEP, C3, C1qDC, Hsp70, SABL, and lysozyme, which are potentially important for its stress resistance and adaptation to a coastal benthic life. The transcriptome analyses demonstrated the dynamic and orchestrated specific expression of numerous innate immune-related genes in response to experimental challenge with pathogens. These findings suggest that the expansion of immune- and stress-related genes may play vital roles in resistance to adverse environments and has a profound effect on the clam's adaptation to benthic life. : Biological Sciences; Genetics; Genomics Subject Areas: Biological Sciences, Genetics, Genomics

Primary carnitine deficiency (PCD) is an autosomal recessive disorder that could result in sudden death. It is caused by a defect in the carnitine transporter encoded by SLC22A5 (Solute Carrier Family 22 Member 5, MIM:603377). Currently, a number of variants in SLC22A5 have been identified, however, the PCD prevalence and its variants in Ningbo area are unclear. In this study, we screened 265,524 newborns by using tandem mass spectrometry. Variants in SLC22A5 were further detected by next-generation sequencing in individuals with abnormal free carnitine levels (C0). We identified 53 newborns with abnormal C0 levels and 26 with variants in SLC22A5. Among them, 16 with compound heterozygous or homozygous variants in SLC22A5 were diagnosed with PCD, suggesting the PCD birth prevalence in Ningbo city was 1/16,595. Moreover, the C0 level was significantly (P = 0.013) higher in PCD patients than in those with one variant. Besides, the c.1400C > G (p. S467C) and c.51C > G (p. F17L) variants were the most frequent and six novel variants are all predicted to be damaging. This study reports the largest PCD patients in Ningbo area by newborn screening and expands the variant spectrum of SLC22A5. Our findings demonstrate the clinical value of combining NBS program results with DNA analysis for the diagnosis of PCD.

Most tripartite motif (TRIM) family proteins are critical components of the autophagy machinery and play important roles in host defense against viral pathogens in mammals. However, the roles of TRIM proteins in autophagy and viral infection have not been studied in lower invertebrates, especially crustaceans. In this study, we first identified a TRIM50-like gene from Penaeus monodon (designated PmTRIM50-like), which, after a white spot syndrome virus (WSSV) challenge, was significantly upregulated at the mRNA and protein levels in the intestine and hemocytes. Knockdown of PmTRIM50-like led to an increase in the WSSV quantity in shrimp, while its overexpression led to a decrease compared with the controls. Autophagy can be induced by WSSV or rapamycin challenge and has been shown to play a positive role in restricting WSSV replication in P. monodon. The mRNA and protein expression levels of PmTRIM50-like significantly increased with the enhancement of rapamycin-induced autophagy. The autophagy activity induced by WSSV or rapamycin challenge could be inhibited by silencing PmTRIM50-like in shrimp. Further studies showed that rapamycin failed to induce autophagy or inhibit WSSV replication after knockdown of PmTRIM50-like. Moreover, pull-down and in vitro ubiquitination assays demonstrated that PmTRIM50-like could interact with WSSV envelope proteins and target them for ubiquitination in vitro. Collectively, this study demonstrated that PmTRIM50-like is required for autophagy and is involved in restricting the proliferation of WSSV through its ubiquitination. This is the first study to report the role of a TRIM family protein in virus infection and host autophagy in crustaceans.

Objectives: Autonomic dysfunction is a common symptom of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis; however, it has been poorly researched. The purpose of this study was to compare the clinical features, tumor occurrence, intensive care unit (ICU) admission, mechanical ventilation, imaging assessment, cerebrospinal fluid examination, disease severity, and immunotherapy in patients with anti-NMDAR encephalitis with or without autonomic dysfunction.Methods: A retrospective study of anti-NMDAR encephalitis patients diagnosed between January 2016 and April 2020 was performed at the First Affiliated Hospital of Zhengzhou University. Patients were divided into two groups according to whether they had autonomic dysfunction, and their clinical features, treatment, and prognosis were compared.Results: A total of 119 patients with anti-NMDAR encephalitis were included in this study. Seventy-three patients (61.3%) had autonomic dysfunction, while the remaining 46 (38.7%) did not. Sinus tachycardia (69.9%) was the autonomic dysfunction with the highest incidence, while the incidences of symptoms including constipation, central hypopnea, and others gradually decreased. Compared to the group without autonomic dysfunction, the prevalence of the main clinical symptoms such as epileptic seizure (P = 0.003), involuntary movement (P = 0.028), and decreased consciousness (P < 0.001) were higher in the group with autonomic dysfunction, which also more frequently presented with complications such as pulmonary infection (P < 0.001) and abnormal liver function (P = 0.001). Moreover, the rates of ICU admission (P < 0.001) and mechanical ventilation (P = 0.001), as well as the modified Rankin scale (mRS) scores at admission (P < 0.001), maximum mRS scores during the course of disease (P < 0.001), and mRS scores at discharge (P < 0.001) were higher in the patients with autonomic dysfunction than in those without. The number of patients in the autonomic dysfunction group who underwent ≥2 immunotherapies was also higher than that in the group without autonomic dysfunction (P < 0.001).Conclusion: Sinus tachycardia is the most common type of autonomic dysfunction in anti-NMDAR encephalitis. Compared to patients without autonomic dysfunction, those with autonomic dysfunction had a higher incidence of epilepsy, involuntary movements, decreased consciousness, pulmonary infections, abnormal liver function, ICU admissions, and mechanical ventilation; moreover, the severity of the disease was greater, and their prognosis worse. Therefore, such patients require intensive immunotherapy.

Cell division cycle 37 (Cdc37) is an important cytoplasmic phosphoprotein, which usually functions as a complex with heat shock protein 90 (Hsp90), to effectively reduce the damage caused by heavy metals, such as cadmium (Cd), in aquatic animals. The high toxicity of Cd in aquatic systems generally has a deleterious effect on healthy farming of shrimps. In the present study, a novel Cdc37 gene from Penaeus monodon was identified and designated as PmCdc37. Following exposure to Cd stress, the expression levels of PmCdc37 were upregulated at the transcriptional level in both the hepatopancreas and hemolymph. RNA interference and recombinant protein injection experiments were carried out to determine the function of PmCdc37 in P. monodon following Cd exposure. To clarify the correlations between PmCdc37 and PmHsp90, the respective recombinant proteins were expressed in vitro, and the ATPase activity of PmHsp90, with or without PmCdc37, was assessed. Moreover, a pull-down assay was conducted to detect the correlation between PmCdc37 and PmHsp90. After analyzing the expression patterns of PmHsp90 following Cd challenge, whether PmHsp90 can promote the ability of PmCdc37 to resist Cd stress or not was investigated. The results showed that formation of a PmHsp90/PmCdc37 complex protected shrimp against Cd stress-induced damage. Moreover, we also confirmed that PmSOD is involved in Cd stress, and that the PmHsp90/PmCdc37 complex can regulate SOD enzymatic activity. PmSOD was involved in decreasing the MDA content in shrimp hemolymph caused by Cd stress. We concluded that during exposure to Cd, the PmHsp90/PmCdc37 complex increases SOD enzyme activity, and in turn decreases the MDA content, thereby protecting shrimp against the damage caused by Cd stress. The present studies contribute to understanding the molecular mechanism underlying resistance to Cd stress in shrimp.

Abstract Background Pediatric cataract is a clinically and genetically heterogeneous disease which is a significant cause of lifelong visual impairment and treatable blindness. Our study aims to investigate the genotype spectrum in a group of Chinese patients with pediatric cataract. Methods We enrolled 39 families with pediatric cataract from October 2015 to April 2016. DNA samples of the probands were analyzed by target next-generation sequencing. Variants were validated using Sanger sequencing in the probands and available family members. Results In our cohort of 39 cases with different types of pediatric cataract, 23 cases were found to harbor putative pathogenic variants in 15 genes: CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYGC, CRYGD, MIP, GCNT2, IARS2, NHS, BCOR, BFSP2, FYCO1, MAF, and PAX6. The mutation detection rates in the familial and sporadic cases were 75 and 47.8%, respectively. Of the 23 causative variants, over half were novel. Conclusions This is a rare report of systematic mutation screening analysis of pediatric cataract in a comparably large cohort of Chinese patients. Our observations enrich the mutation spectrum of pediatric cataract. Next-generation sequencing provides significant diagnostic information for pediatric cataract cases, especially when considering sporadic and subtle syndromal cases.

Abstract Background To determine the factors affecting the in-hospital prognosis of patients with acute ST segment elevation myocardial infarction (STEMI) after percutaneous coronary intervention (PCI), and to establish its prognostic discriminant model. Methods A total of 701 consecutive STEMI patients undergoing PCI were enrolled in this study. The patients were divided into two groups, good prognosis and poor prognosis, based on whether the patient had adverse outcomes (death or heart function ≥ grade III) at discharge. Demographic and basic clinical characteristics, diagnosis at admission (e.g., ventricular function, complications, or hyperlipidemia), and biomedical indicators (e.g., blood count, basal metabolism and biochemical composition, blood lipid and glucose levels, myocardial biomarkers, and coagulation) were collected and analyzed. Results We determined 22 factors as risk factors for the in-hospital prognosis of STEMI patients after PCI: age, cardiac function during hospitalization, complications, history of diabetes mellitus, et al., among which the history of diabetes, uric acid, urea nitrogen, and activated partial thromboplastin time (APTT) were independent risk factors. Conclusion We identified four independent risk factors for the in-hospital prognosis of STEMI patients after PCI and generated a prognostic model to predict the adverse outcomes of these patients.

This study aimed to elucidate the complete mitochondrial genome (mitogenome) of Thryssa hamiltonii (Clupeiformes: Engraulidae). The circular mitogenome is 16,737-bp-long, including 13 protein-coding genes, 22 tRNA genes, two rRNA genes, and a non-coding control region as observed in other vertebrates. The overall base composition is as follows: A, 30.69%; T, 24.86%; C, 28.17%; G, 16.29%; a slight A + T bias of 55.55%. Phylogenetic analysis of 16 species in family Engraulidae revealed that T. hamiltonii clustered in subfamily Engraulinae and is closely related to Lycothrissa crocodilus. The present data will contribute to future phylogenetic studies on members of family Engraulidae and conservation strategies for T. hamiltonii.

Sthenoteuthis oualaniensis (SA) is an important squid species in the South China Sea. Based on SA samples collected in 2016, SA was divided into the "dwarf" form (DF) and "medium" form (MF). To understand the changes in gastrointestinal function in SA during sexual maturation, we undertook transcriptomic analyses of the stomach and intestine tissues of the mature and immature DF and MF of SA using the deep-sequencing platform Illumina HiSeq™. We exploited a high-throughput method to delineate differentially expressed genes (DEGs) in the DF and MF of SA. A total of 135464 unigenes (68627 unigenes of the DG and 66837 unigenes of the MF) were generated. We identified 7965 and 4051 relative DEGs in the intestine and stomach tissues of the mature DF of SA compared with those of the immature DF of SA; and 22138 and 18460 DEGs in the intestine and stomach of the mature MF of SA compared with those of the immature MF of SA. Gastrointestinal function related to the metabolism of lipids, amino acids, glucose, and energy were changed in SA during sexual maturation. This work is the first to identify a set of genes associated with gastrointestinal function during sexual maturation in SA.

Chk1 is a cell-cycle regulator. Chk1 has been identified in organisms ranging from yeast to humans, but few researchers have studied Chk1 in shrimps. We cloned Chk1 from the black tiger shrimp (Penaeus monodon). The full-length cDNA sequence of PmChk1 had 3,334 base pairs (bp), with an open reading frame of 1,455 bp. The complete genomic sequence of PmChk1 (11,081 bp) contained 10 exons separated by nine introns. qRT-PCR showed that PmChk1 was highly expressed in the ovaries and gills of P. monodon. The lowest PmChk1 expression was noted in stage III of ovarian development in P. monodon. PmChk1 expression decreased significantly after injection of 5-hydroxytryptamine and eyestalk ablation in P. monodon ovaries. RNA interference experiments were undertaken to examine the expression of PmChk1, PmCDC2, and PmCyclin B. PmChk1 knockdown in the ovaries and hepatopancreas by dsRNA-Chk1 was successful. The localization and level of PmChk1 expression in the hepatopancreas was studied using in situ hybridization, which showed that data were in accordance with those of qRT-PCR. The Gonadosomatic Index of P. monodon after dsRNA-Chk1 injection was significantly higher than that after injection of dsRNA-GFP or phosphate-buffered saline. These data suggest that PmChk1 may have important roles in the ovarian maturation of P. monodon.

The complete mitochondrial (mt) genome of Cancer magister was obtained using next-generation sequencing. The circular genome was 39,658 bp in length, consisting of 13 protein-coding genes, 26 transfer RNA genes, and 2 ribosomal RNA genes. Unfortunately, the control region was not found in mitochondrial genome. Of the 41 genes, 24 were encoded by the heavy strand, while the others were encoded by the light strand. The genome composition with A + T bias (69.90%). The phylogenetic analysis showed that C. magister and Cancer pagurus was clustered together, then grouped with A. alayseae and Gandalfus puia, which may suggest Cancroidea was close with Bythograeidae. The newly described mitochondrial genome may provide valuable data for phylogenetic analysis for Cancridae.

The complete mitochondrial genome of Cancer pagurus was obtained using next-generation sequencing. The circular genome was 42,736 bp in length, consisting of 13 protein-coding genes, 26 transfer RNA genes, and 2 ribosomal RNA genes. The control region was not found in mitochondrial genome. Of the 41 genes, 21 were encoded by the heavy strand, while the others were encoded by the light strand. The genome composition with A + T bias (74.10%). The phylogenetic analysis suggested that C. pagurus was closest to Austinograea alayseae. The newly described mitochondrial genome may provide valuable data for phylogenetic analysis for Cancridae.

Hybrid oysters often show heterosis in growth rate, weight, survival and adaptability to extremes of salinity. Oysters have also been used as model organisms to study the evolution of host-defense system. To gain comprehensive knowledge about various physiological processes in hybrid oysters under low salinity stress, we performed transcriptomic analysis of gill tissue of Crassostrea sikamea ♀ × Crassostrea angulata♂ hybrid using the deep-sequencing platform Illumina HiSeq. We exploited the high-throughput technique to delineate differentially expressed genes (DEGs) in oysters maintained in hypotonic conditions. A total of 199,391 high quality unigenes, with average length of 644 bp, were generated. Of these 35 and 31 genes showed up- and down-regulation, respectively. Functional categorization and pathway analysis of these DEGs revealed enrichment for immune mechanism, apoptosis, energy metabolism and osmoregulation under low salinity stress. The expression patterns of 41 DEGs in hybrids and their parental species were further analyzed by quantitative real-time PCR (qRT-PCR). This study will serve as a platform for subsequent gene expression analysis regarding environmental stress. Our findings will also provide valuable information about gene expression to better understand the immune mechanism, apoptosis, energy metabolism and osmoregulation in hybrid oysters under low salinity stress.

The species tank goby (Glossogobius giuris) is assessed as Least Concern on the IUCN Red List of Threatened Species. In the present study, we first determined and described the complete mitochondrial genome of G. giuris. The circular genome is 16,595 bp in length. It has the typical vertebrate mitochondrial gene arrangement and consists of 13 protein-coding genes, 22 transfer RNA genes, two ribosomal RNA genes, and one non-coding control region. The overall base composition is 29.1% for A, 24.6% for T, 29.4% for C, and 17.0% for G. Phylogenetic analysis of 21 species in the family Gobiidae showed that G. giuris was clustered into the genus Glossogobius, subfamily Gobiinae. This information will contribute to future phylogenetic studies of Gobiidae and conservation strategies for G. giuris.

Growing evidence suggests a close relationship between gut microbiota and infectious diseases. However, the specific role of gut microbiota in host-pathogen interactions during aquaculture-related infections remains poorly understood. This study investigated the diversity and composition of gut microbiota communities in Aeromonas veronii-infected Lateolabrax maculatus using high-throughput sequencing. The results revealed significant changes in the structure and composition of L. maculatus gut microbiota after A. veronii infection. Over time, Bacteroidetes and Firmicutes decreased significantly, while Proteobacteria increased significantly after A. veronii infection. Most intestinal bacteria showed a decline in abundance over time, with probiotics (such as Lactobacillus) experiencing a significant decrease and pathogens (such as Aeromonas) showing a significant increase. Conversely, no differences were observed in the structure and composition of gut microbiota between healthy L. maculatus and those infected with A. veronii after treatment with Lactobacillus plantarum; no changes in relative abundances of other bacterial phyla or genera except for Aeromonas. Furthermore, intestinal flora's structural diversity and composition differed significantly from untreated L. maculatus infected with A. veronii. These findings suggest alterations in the structure and composition of gut microbiota following A. veronii infection. L. plantarum can maintain a dynamic balance within the intestinal flora, reducing the potential risk of pathogen infections. [ABSTRACT FROM AUTHOR]

Abstract 抽象 Lymphangioleiomyomatosis (LAM) is a rare, slowly progressing, low-grade metastatic tumor primarily affecting women. Currently, vascular endothelial growth factor–D (VEGF-D) is the only validated diagnostic biomarker, enabling diagnosis of LAM without the need for lung biopsy in appropriate clinical settings. However, VEGF-D concentrations are normal in about 30% of patients, rendering it insufficient for diagnosing all cases of LAM. There remains a need to identify more non-invasive, safe, sensitive, and specific biomarkers associated with LAM. Therefore, it is imperative to explore novel non-invasive, safe, and specific diagnostic methods for LAM. This article aims to review biomarkers associated with LAM, including potential biomarkers newly discovered or showing advancements in classical biomarkers widely used in LAM, and discuss their application in LAM diagnosis, assessment of disease severity, prediction of treatment response, and prognosis.淋巴管平滑肌瘤病 （LAM） 是一种罕见的、进展缓慢的低级别转移性肿瘤，主要影响女性。目前，血管内皮生长因子-D （VEGF-D） 是唯一经过验证的诊断生物标志物，无需在适当的临床环境中进行肺活检即可诊断 LAM。然而，约 30% 患者的 VEGF-D 浓度正常，不足以诊断所有 LAM 病例。仍然需要确定与 LAM 相关的更多无创、安全、敏感和特异性的生物标志物。因此，当务之急是探索新型无创、安全和特异性的 LAM 诊断方法。本文旨在回顾与 LAM 相关的生物标志物，包括新发现的潜在生物标志物或显示出 LAM 中广泛使用的经典生物标志物的进展，并讨论它们在 LAM 诊断、疾病严重程度评估、治疗反应预测和预后中的应用。

Abstract Leeches are famous for their high medical value and wide environmental adaptability. Among them, cave leeches are a very fascinating and rare group, which is an important component in the study of adaptive evolution of leeches. However, no study has yet reported a reference genome for this group. In this study, we assembled a high-quality chromosome-level genome of the cave terrestrial leech Sinospelaeobdella cavatuses, through Illumina and PacBio sequencing, alongside chromosome conformation capture techniques. The resulting genome spans 153.67 Mb across 9 pseudochromosomes(range: 11.33 to 23.53 Mb), with a mounting rate of up to 95.37% and features an N50 length of 17.15 Mb. This genome is composed of 35.16% repetitive elements and contains 21180 predicted protein-coding genes. Decoding the S. cavatuses genome not only promotes future studies on study of its phylogeny, evolution, and behavior, but also provides valuable resources for in-depth investigation on adaptive evolution of leech.

Abstract Background Estimation of global diabetes burden in adolescents and young adults (10–24 years) from 1990 to 2021. Methods Data were extracted from the 2021 Global Burden of Disease Study. Joinpoint regression analysis was employed to examine trends over the past 30 years, frontier analysis identified regions with potential for improvement, and the slope index of inequality and the relative concentration index were used to assess health inequalities. Results From 1990 to 2021, the age-standardized prevalence rates (ASPR) and age-standardized disability-adjusted life years rates (ASDR) of diabetes in adolescents and young adults increased globally, while age-standardized death rates (ASMR) remained stable. Oceania bore the highest burden regionally, East Asia experienced the fastest rise in ASPR and ASDR, and High-income Asia Pacific saw the most significant decrease in ASMR. Among 204 countries, Marshall Island and Hait reported the highest ASPR, ASDR, and ASMR in 2021. Health inequality analysis confirmed that the burden was concentrated in countries with lower Socio-Demographic Index (SDI). Frontier analysis showed that ASMR and ASDR were negatively correlated with SDI, with Yemen and Honduras, which have lower socio-demographic indices, exhibiting more smaller overall differences from frontier boundaries. Conclusions The analysis revealed a sharp increase in the global ASPR and ASDR of diabetes in adolescents and young adults. Additionally, the disease burden is typically concentrated in countries with lower SDI, highlighting an urgent need for governments to develop flexible health policies to mitigate the escalating threat of diabetes in this demographic.