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BACKGROUND: Few studies in China have reported factors influencing suicide attempt in young first-episode drug-free (FEDN) MDD patients. This study aimed to investigate the incidence and potential relevant factors of suicide attempt among young Chinese patients with FEDN MDD to prevent suicidal behavior in this population. METHODS: We recruited 1076 FEDN MDD outpatients aged 18-45 years. Patients' mental states were measured by the Hamilton Anxiety Scale (HAMA), Hamilton Depression Scale (HAMD), Positive and Negative Syndrome Scale (PANSS) positive subscale, and Clinical Global Impression Severity Scale (CGIS). Fasting blood glucose, lipid levels, and thyroid function parameters were also measured. RESULTS: The prevalence of suicide attempt for FEDN MDD patients was 18.31 %. Compared to patients without suicide attempt, patients with suicide attempt had an older age of onset, higher HAMA, HAMD, PANSS-positive subscale and CGI-S scores, higher blood pressure, fasting blood glucose, thyroid peroxidases antibody (A-TPO), anti-thyroglobulin (A-TG), thyroid stimulating hormone (TSH), low-density lipoprotein cholesterol (LDL-C), and total cholesterol (TC), but lower high-density lipoprotein cholesterol (HDLC) (all p < 0.05). Logistic regression analysis showed that duration of illness, hypertension, PANSS-positive subscale, HAMA and CGI-S scores, and A-TPO, LDL-C, TC, and HDL-C were associated with suicide attempt in patients with MDD. LIMITATIONS: The main limitations are cross-sectional design and inability to control selection bias. CONCLUSIONS: This study suggests that young patients with FEDN MDD have a high rate of suicide attempts. Several clinical and metabolic indicators related to lipids and thyroid function may be involved in suicide attempts in FEDN MDD patients.
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Transtorno Depressivo Maior , Hipertensão , Humanos , Transtorno Depressivo Maior/epidemiologia , Tentativa de Suicídio , Estudos Transversais , LDL-Colesterol , Prevalência , GlicemiaRESUMO
Surface plasmon coupled emission (SPCE), a novel surface-enhanced fluorescence technique, can generate directional and amplified radiation by the intense interaction between fluorophores and surface plasmons (SPs) of metallic nanofilms. For plasmon-based optical systems, the strong interaction between localized and propagating SPs and "hot spot" structures show great potential to significantly improve the electromagnetic (EM) field and modulate optical properties. Au nanobipyramids (NBPs) with two sharp apexes to enhance and restrict the EM field were introduced through electrostatic adsorption to achieve a mediated fluorescence system, and the emission signal enhancement was realized by factors over 60 compared with the normal SPCE. It has been demonstrated that the intense EM field produced by the NBPs assembly is what triggered the unique enhancement of SPCE by Au NBPs, which effectively overcomes the inherent signal quenching of SPCE for ultrathin sample detection. This remarkable enhanced strategy offers the chance to improve the detection sensitivity for plasmon-based biosensing and detection systems, and expand the range of applications for SPCE in bioimaging with more comprehensive and detailed information acquisition. The enhancement efficiency for various emission wavelengths was investigated in light of the wavelength resolution of SPCE, and it was discovered that enhanced emission for multi-wavelength could be successfully detected through the different emission angles due to the angular displacement caused by wavelength change. Benefit from this, the Au NBP modulated SPCE system was employed for multi-wavelength simultaneous enhancement detection under a single collection angle, which could broaden the application of SPCE in simultaneous sensing and imaging for multi-analytes, and expected to be used for high throughput detection of multi-component analysis.
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Corantes Fluorescentes , Ressonância de Plasmônio de Superfície , Ressonância de Plasmônio de Superfície/métodos , Corantes Fluorescentes/químicaRESUMO
OBJECTIVES: There is overwhelming evidence of the relationship between smoking and schizophrenia (SZ). Tobacco smoke is considered to ameliorate the symptoms and reduce the side effects of antipsychotics in SZ patients. However, the underlying biological mechanism by which tobacco smoke improves symptoms in SZ remains unclear. This study was designed to examine the effects of tobacco smoke on antioxidant enzyme activities and psychiatric symptoms after receiving 12-week risperidone monotherapy. METHODS: Two hundred and fifteen antipsychotic-naïve first-episode (ANFE) patients were recruited and treated with risperidone for 3 months. The severity of the patient's symptoms was assessed by the Positive and Negative Syndrome Scale (PANSS) at baseline and at post-treatment. Plasma SOD, GSH-Px, and CAT activities were determined at baseline and follow-up. RESULTS: Relative to nonsmoking patients with ANFE SZ, patients who smoked had higher baseline CAT activity. In addition, among non-smokers with SZ, baseline GSH-Px was associated with clinical symptom improvement, while baseline CAT was associated with positive symptom improvement in smokers with SZ. CONCLUSION: Our findings demonstrate that smoking affects the predictive role of baseline SOD, GSHPx, and CAT activities on clinical symptom improvement in patients with SZ.
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Antipsicóticos , Esquizofrenia , Poluição por Fumaça de Tabaco , Humanos , Risperidona/uso terapêutico , Esquizofrenia/tratamento farmacológico , Esquizofrenia/diagnóstico , Antioxidantes/uso terapêutico , Estudos de Coortes , Escalas de Graduação Psiquiátrica , Antipsicóticos/uso terapêutico , Fumar , Superóxido Dismutase/uso terapêuticoRESUMO
DOPEY2 has been shown to be associated with Down syndrome and PCDH7 might be involved in Rett syndrome and MECP2 duplication syndrome. The mechanism how both proteins play roles in these syndromes are largely unknown. Here, we show that Dopey2 and Pcdh7 balance the proliferation and differentiation of neural stem cells and progenitors during embryonic neurogenesis to generate proper size and architecture of zebrafish brains. Dopey2 and Pcdh7 mutually restricted expression of each other in zebrafish embryos. Dopey2 was responsible for the proliferation of neural stem cells/progenitors, whereas Pcdh7 was responsible for the differentiation of neural stem cells/progenitors. Both proteins were shown to orchestrate the proper development and arrangement of neural cells in zebrafish embryonic brains. The results provide an insight into mechanisms to understand how the embryonic brain is constituted and how developmental defects occur in the brains of patients with Down syndrome, Rett syndrome, or MECP2 duplication syndrome.
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BACKGROUND: Brugada syndrome (BrS) is an inheritable arrhythmia syndrome that can lead to sudden cardiac death in patients while the heart structure is normal. However, the genetic background of more than 65% of BrS probands remains unclear. OBJECTIVES: The purpose of this study is to report the variant spectrum in a Chinese cohort with suspected BrS and to analyze their distinct clinical and electrocardiographic features. METHODS: Patients with suspected BrS from Tongji Hospital between 2008 and 2021 were analyzed retrospectively. RESULTS: A total of 79 probands were included in this study. Patients with type 1 BrS electrocardiogram (ECG) had a prolonged QRS duration compared to patients with type 2/3 BrS ECG. Of them, 59 probands underwent genetic testing. Twenty-five patients (42.37%) showed abnormal genetic testing results, and eight of them (13.56%) carried pathogenic/likely pathogenic (P/LP) mutations. Mutation carriers presented much more prominent depolarization and repolarization abnormalities than non-carriers, including a prolonged P-wave duration, QRS duration, QTc interval, decreased QRS amplitude, and deviation of the electrocardiographic axes (T-wave axis and R-wave axis). Furthermore, our study identified four novel P/LP mutations: Q3508X in TTN, A990G in KCNH2, G1220E, and D372H (in a representative pedigree) in SCN5A. CONCLUSIONS: Our study showed the variant spectrum of a suspected Chinese BrS cohort, and we identified four novel P/LP mutations in TTN, KCNH2, and SCN5A.
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Marfan syndrome (MFS) is a life-threatening autosomal dominant genetic disorder of connective tissue caused by the pathogenic mutation of FBN1. Whole exome sequencing and Sanger sequencing were performed to identify the pathogenic mutation. The transcriptional consequence of the splice-altering mutation was analyzed via minigene assays and reverse-transcription PCR. We identified a novel pathogenic mutation (c.8051+1G>C) in the splice site of exon 64 of the FBN1 gene in an MFS-pedigree. This mutation was confirmed to cause two different truncated transcripts (entire exon 64 skipping; partial exon 64 exclusion). We also systematically summarized previously reported transcriptional studies of pathogenic splice-altering mutations in the FBN1 gene to investigate the clinical and transcriptional consequences. In conclusion, we reported for the first time that a splice-altering mutation in the FBN1 gene leads to two abnormal transcripts simultaneously.
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Síndrome de Marfan , Humanos , Síndrome de Marfan/genética , Síndrome de Marfan/patologia , Fibrilina-1/genética , Análise Mutacional de DNA , Mutação , LinhagemRESUMO
Danon disease is a rare disease caused by glycogen storage lysosomal disorder. It is related to the pathogenic mutation of the LAMP2 gene. In this case report, we present a patient with a novel pathogenic mutation (c.764_765insGA) with cardiac-only symptoms. Her family members do not carry the same mutation she does, suggesting this is a de novo mutation. Further tests revealed vacuoles and glycogen disposition in the patient's heart tissue and a significant decrease in LAMP2 protein expression. Protein structure remodeling of LAMP2 predicted that the mutant protein has conformational change lacking an important transmembrane domain, subsequently causing protein destabilization.
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Diquat is used in agricultural contexts to control the growth of broadleaf and grassy weeds in both terrestrial and aquatic areas. Diquat can be readily absorbed by the soil and can remain therein for extended periods of time, altering the local microenvironment. In this study, the Meyerozyma guilliermondii Wyslmt yeast strain, which has the capacity to degrade Diquat, was isolated from soil exposed to long-term Diquat treatment. Over a 7-day incubation period, this strain was able to remove 42.51% of available Diquat (100 mg/L). RNA-Seq was performed to assess changes in gene expression in this yeast strain over the course of Diquat degradation, revealing 63 and 151 upregulated and downregulated genes, respectively. KEGG pathway enrichment analysis revealed these genes to be most highly enriched in the carbohydrate metabolism pathway. Through functional annotation and gene expression analyses, we identified seven genes were predicted to be involved in Diquat biodegradation. Results of qRT-PCR assays indicated that the relative mRNA expression levels of these seven genes were significantly higher relative to the control group. Together these analyses led to the identification of DN676 as a candidate Diquat-degrading gene. When a pET-DN676 vector was expressed in E. coli BL21, this strain was able to remove 12.49% of provided Diquat (100 mg/L) over the course of a 7-day incubation. These results thus confirmed that the DN676 gene can promote Diquat degradation, with these studies having yielded an engineered BL21-pET-DN676 bacterial strain capable of degrading Diquat.
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BACKGROUND: Osteopetrosis is a family of extremely rare diseases caused by failure of osteoclasts and impaired bone resorption. Among them, autosomal dominant osteopetrosis type II (ADO II), related to the chloride channel 7 (CLCN7) gene, is the most frequent form of osteopetrosis. In this study, we report a de novo mutation of CLCN7 in a patient without the family history of ADO II. CASE SUMMARY: A 5-year-old Chinese boy with ADO II was found to have a de novo mutation in the CLCN7 gene [c.746C>T (p.P249L)]. Typical clinical manifestations, including thickening of the cortex of spinal bones and long bones, non-traumatic fracture of the femoral neck, and femoral head necrosis, were found in this patient. The patient is the first reported case of ADO II with the missense mutation c.746C>T (p.P249L) of the CLCN7 gene reported in China. We also review the available literature on ADO II-related CLCN7 mutations, including baseline patient clinical features, special clinical significance, and common mutations. CONCLUSION: Our report will enrich the understanding of mutations in ADO II patients. The possibility of a de novo mutation should be considered in individuals who have no family history of osteopetrosis.
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Fusarium oxysporum and Fusarium solani are the main soybean root rot pathogens in northern China. We investigated the distribution and driving factors of Fusarium under different cropping systems to evaluate and regulate soil health. The factors affecting Fusarium in soybean cropping systems were assessed using high-throughput sequencing of ITS1 to identify soil microbial population diversity, and then the soil physicochemical properties were assessed to determine the levels of various elements present in the environment. According to the results, the abundance of Fusarium was obviously reduced in the corn-soybean rotation and uncultivated soil systems. The relative abundance of Fusarium in the soil and the abundance and diversity of fungal communities were significantly positively associated with the abundance of Ascomycota. Additionally, the relative abundance of Fusarium was significantly positively correlated with the zinc (Zn) content. When the Zn content was high, the abundance of Fusarium increased, and the correlations with Chaetomium, Cryptococcus, Penicillium and Trichoderma significantly decreased. Soybean yield was significantly negatively correlated with fungal community abundance and diversity. Based on our results, the uncultivated soil and corn-soybean rotation cropping systems improved the organizational structure of the soil fungal community and were conducive to the health and production of soybean.
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Ascomicetos , Fusarium , Fungos/genética , Rizosfera , Solo/química , Microbiologia do Solo , Glycine max/microbiologia , Zea maysRESUMO
Soybean continuous cropping (SC) leads to continuous cropping obstacles, and soil-borne fungal diseases occur frequently. Rotation can alleviate continuous cropping obstacles. However, the long-term effects of continuous cropping and rotation on the structure and function of the fungal community in soil are not clear. In this study, five cropping systems, SC, fallow (CK), fallow-soybean (FS), corn-soybean (CS), and wheat-soybean (WS), were implemented in the long-term continuous cropping area of soybean. After 13 years of planting, high-throughput sequencing was used to evaluate the structure and diversity of soil fungal communities and to study the relationship between fungal communities and soil environmental factors. The results showed that the abundance and diversity of fungal flora in SC soil were the highest. There were significant differences in the formation of soil fungal communities between soybean continuous cropping and the other treatments. There were 355 species of endemic fungi in SC soil. There were 231 and 120 endemic species in WS and CS, respectively. The relative abundance of the potential pathogens Lectera, Gibberella, and Fusarium in the SC treatment soil was significantly high, and the abundance of all potential pathogens in CK was significantly the lowest. The abundance of Lectera and Fusarium in CS was significantly the lowest. There was a positive correlation between potential pathogens in the soil. The relative abundance of potential pathogens in the soil was significantly positively correlated with the relative abundance of Ascomycetes and negatively correlated with the relative abundance of Basidiomycetes. Potential pathogenic genera had a significant negative correlation with soil OM, available Mn, K and soil pH and a significant positive correlation with the contents of soil available Cu, Fe, and Zn. In general, the fungal communities of SC, FS, WS, and CS were divided into one group, which was significantly different from CK. WS and CS were more similar in fungal community structure. The CK and CS treatments reduced the relative abundance of soil fungi and potential pathogens. Our study shows that SC and FS lead to selective stress on fungi and pathogenic fungi and lead to the development of fungal community abundance and diversity, while CK and CS can reduce this development, which is conducive to plant health.
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Purpose: Familial partial lipodystrophy type 3 (FPLD3) is an autosomal dominant disease. Patients typically present with loss of adipose tissue and metabolic complications. Here, we reported a Chinese FPLD3 patient with a novel PPARG gene mutation. Methods: A 16-year-old female patient and her relatives were assessed by detailed clinical and biochemical examinations. Sequencing was performed by using the extracted DNA. Moreover, we identified FPLD3 patients from previous studies, and according to the protein region affected by the gene mutation. We divided the patients into the DNA-binding domain (DBD) group or the ligand-binding domain (LBD) group, and compared the clinical features between the two groups. Results: We identified a novel gene mutation affecting the LBD of PPARγ c.929T > C (p.F310S). This mutation leads to the substitution of a phenylalanine by a serine. In our case, subcutaneous fat was significantly diminished in her face, hips and limbs. The patient was also presented with insulin resistance, diabetes mellitus, hypertriglyceridemia, fatty liver, liver dysfunction, albuminuria and diabetic peripheral neuropathy. After literature review, a total of 58 FPLD3 patients were identified and we found no difference in clinical features between the DBD group and LBD group (all P > 0.05). Conclusions: A Chinese FPLD3 patient with a novel PPARG gene mutation is described. Our case emphasized the importance of physical examination and genetic testing in young patients with severe metabolic syndromes.
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Lipodistrofia Parcial Familiar , PPAR gama , Adolescente , China , DNA , Feminino , Humanos , Lipodistrofia Parcial Familiar/complicações , Lipodistrofia Parcial Familiar/genética , Lipodistrofia Parcial Familiar/metabolismo , Mutação , PPAR gama/genética , PPAR gama/metabolismoRESUMO
Glyphosate is a broad-spectrum and nonselective organophosphorus herbicide that inhibits 5-enolpyruvylshikimate-3-phosphate synthase (EPSPS), an enzyme in the shikimate pathway in plants. A glyphosate-resistant fungus identified as Fusarium verticillioides was screened from soil subjected to long-term glyphosate application, and this fungus could grow in inorganic salt medium containing 90 mmol/L glyphosate. The optimum culture conditions identified via the response surface curve method were 28 °C and pH 7.0. The target gene epsps was cloned in this study, and the open reading frame contained 1170 nucleotides and putatively encoded 389 amino acid residues. Phylogenetic analysis showed that this gene belonged to class I, genes naturally sensitive to glyphosate. q-PCR confirmed that the relative expression level of the epsps gene was low, and no significant difference in expression was observed among different glyphosate concentrations at 12 h or 48 h. On day 28, the degradation by Fusarium verticillioides C-2 of sterilized soil and unsterilized soil supplemented with 60 mg/kg glyphosate reached 72.17% and 89.07%, respectively, and a significant difference was observed between the treatments with and without the glyphosate-degrading strain. The recovery of soil dehydrogenase activity after the addition of Fusarium verticillioides was significantly higher than that in the absence of the degrading fungus on the 28th day. The results showed that C-2 is a highly effective glyphosate-degrading strain with bioremediation potential for glyphosate-contaminated soil.
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3-Fosfoshikimato 1-Carboxiviniltransferase , Herbicidas , 3-Fosfoshikimato 1-Carboxiviniltransferase/genética , Biodegradação Ambiental , Fusarium , Glicina/análogos & derivados , Resistência a Herbicidas/genética , Herbicidas/farmacologia , Filogenia , GlifosatoRESUMO
Objective: To identify the potential biomarkers for predicting depression in diabetes mellitus using support vector machine to analyze routine biochemical tests and vital signs between two groups: subjects with both diabetes mellitus and depression, and subjects with diabetes mellitus alone. Methods: Electronic medical records upon admission and biochemical tests and vital signs of 135 patients with both diabetes mellitus and depression and 187 patients with diabetes mellitus alone were identified for this retrospective study. After matching on factors of age and sex, the two groups (n = 72 for each group) were classified by the recursive feature elimination-based support vector machine, of which, the training data, validation data, and testing data were split for ranking the parameters, determine the optimal parameters, and assess classification performance. The biomarkers were identified by 10-fold cross validation. Results: The experimental results identified 8 predictive biomarkers with classification accuracy of 78%. The 8 biomarkers are magnesium, cholesterol, AST/ALT, percentage of monocytes, bilirubin indirect, triglyceride, lactic dehydrogenase, and diastolic blood pressure. Receiver operating characteristic curve analysis was also adopted with area under the curve being 0.72. Conclusions: Some biochemical parameters may be potential biomarkers to predict depression among the subjects with diabetes mellitus.
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Oral lichen planus (OLP) is one of the most common chronic diseases; however, its etiology remains unknown. More and more studies have revealed that emotional instability is one of the risk factors for the onset and expansion of OLP, especially in patients suffering from depression, anxiety disorder, and acute stress. In this case report, we had a 32-year-old female OLP patient who had no obvious response to conventional OLP drugs. Then we switched to a combination of psychotropic drugs and psychotherapies. By regulating mood through drugs and psychological counseling, the patient's oral disease was alleviated. Our case shows that clinicians should consider the mental problems of OLP patients. It also emphasizes the importance of medications and psychological counseling in the treatment of somatic diseases.
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BACKGROUND: The genetic basis of a considerable fraction of hypertrophic cardiomyopathy (HCM) cases remains unknown. Whether the gene encoding RNA binding motif protein 20 (RBM20) is implicated in HCM and the correlation of clinical characteristics of RBM20 heterozygotes with HCM remain unresolved. We aimed to investigate the association between RBM20 variants and HCM. METHODS: We compared rare variants in the RBM20 gene by exome sequencing in 793 patients with HCM and 414 healthy controls. Based on a case-control approach, we used optimal sequence kernel association test (SKAT-O) to explore whether RBM20 is associated with HCM. The genetic distribution of RBM20 rare variants was then compared between HCM heterozygotes and dilated cardiomyopathy (DCM) heterozygotes. Clinical features and prognosis of RBM20 heterozygotes were compared with nonheterozygotes. RESULTS: Gene-based association analysis implicated RBM20 as a susceptibility gene for developing HCM. Patients with RBM20 variants displayed a higher prevalence of sudden cardiac arrest (SCA) (6.7% vs 0.9%, P = 0.001), increased sudden cardiac death (SCD) risk factor counts and impaired left ventricle systolic function. Further survival analysis revealed that RBM20 heterozygotes had higher incidences of resuscitated cardiac arrest, recurrent nonsustained ventricular tachycardia, and malignant arrhythmias. Mendelian randomization suggested that RBM20 expression in the left ventricle was causally associated with HCM and DCM with opposite effects. CONCLUSIONS: This study identified RBM20 as a potential causal gene of HCM. RBM20 variants are associated with increased risk for SCA in HCM.
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Cardiomiopatia Hipertrófica/genética , DNA/genética , Estudos de Associação Genética/métodos , Predisposição Genética para Doença , Mutação , Proteínas de Ligação a RNA/genética , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/metabolismo , Análise Mutacional de DNA , Feminino , Seguimentos , Testes Genéticos , Humanos , Imagem Cinética por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Proteínas de Ligação a RNA/metabolismo , Estudos RetrospectivosRESUMO
Glyphosate is a broad-spectrum herbicide that has been widely used for nonselective weed control in soybean fields. In the present study, RNA-seq of an Fusarium verticillioides isolate exhibiting resistance to 120 mM glyphosate revealed gene expression occurring in the presence of glyphosate and led to the identification and screening of candidate genes. A transcriptome analysis revealed 5,548 and 5,361 differentially expressed genes (DEGs) in the glyphosate resistant (GR) Fusarium verticillioides isolate treated with 45 and 90 mM glyphosate, respectively. The gene ontology (GO) pathways associated with these differentially expressed genes primarily included metabolic process, amine metabolic process, cellular aromatic compound metabolism and stress response. The primary Kyoto Encyclopedia of Genes and Genomes (KEGG) metabolic pathways included biosynthesis of secondary metabolites, carbon metabolism, glycolysis/gluconeogenesis, and nitrogen metabolism. The glyphosate degradation-related gene fv04, which belongs to the 3-isopropylalate dehydratase of the aconitase superfamily, was cloned to generate the prokaryotic expression vector pET-29b-fv04, which could be stably expressed in E. coli and promote the degradation of 52.3% of 500 mg/L glyphosate in 72 h. The results of the present study provide new ideas and insights for the acquisition of glyphosate resistance resources.