Background:
Immunotherapy has been a promising approach option for lung cancer.
Method:
All the open-accessed data was obtained from the Cancer Genome Atlas (TCGA) database. All the analysis was ...conducted using the R software analysis.
Results:
Firstly, the genes differentially expressed in lung cancer immunotherapy responders and non-responders were identified. Then, the lung adenocarcinoma immunotherapy-related genes were determined by LASSO logistic regression and SVM-RFE, respectively. A total of 18 immunotherapy response-related genes were included in our investigation. Subsequently, we constructed the logistics score model. Patients with high logistics score had a better clinical effect on immunotherapy, with 63.2% of patients responding to immunotherapy, while only 12.1% of patients in the low logistics score group responded to immunotherapy. Moreover, we found that pathways related to immunotherapy were mainly enriched in metabolic pathways such as fatty acid metabolism, bile acid metabolism, oxidative phosphorylation, and carcinogenic pathways such as KRAS signaling. Logistics score was positively correlated with NK cells activated, Mast cells resting, Monocytes, Macrophages M2, dendritic cells resting, dendritic cells activated and eosinophils, while was negatively related to Tregs, macrophages M0, macrophages M1, and mast cells activated. In addition, ERVH48-1 was screened for single-cell exploration. The expression of ERVH48-1 increased in patients with distant metastasis, and ERVH48-1 was associated with pathways such as pancreas beta cells, spermatogenesis, G2M checkpoints and KRAS signaling. The result of quantitative real-time PCR showed that ERVH48-1 was upregulated in lung cancer cells.
Conclusion:
Our study developed an effective signature to predict the immunotherapy response of lung cancer patients.
Oculocutaneous albinism (OCA) is a human autosomal-recessive hypopigmentation disorder with hypopigmentation in the skin, hair, and eyes. OCA1 and OCA2 are caused by mutations of the TYR and OCA2 ...genes, respectively, which are responsible for most oculocutaneous albinism. However, the incidence of oculocutaneous albinism patients in Guangxi remains unclear.
To evaluate the molecular basis of oculocutaneous albinism in thirty-six patients in Guangxi, China. Peripheral venous blood samples were collected from these unrelated patients. The TYR and OCA2 genes of all individuals were analyzed by direct DNA sequencing and the sequences compared with are reference database and bioinformatics analysis.
Among the 36 OCA patients, 8(22.2%) were found mutations on TYR gene, 28 (77.8%) on OCA2. And we identified Twenty-seven different TYR and OCA2 mutations in these patients, including one novel TYR framshift mutation c.561_562insTTATTATGTGTCAAATTATCCCCCA, three novel OCA2 mutations: one nonsense mutation c.2195C > G(p.S732X), one deletation mutation(c.1139-1141delTGG), one missense mutations c.2495A > C(p.H832P). The population screening and the bioinformatic analysis to determined the effects of the mutations, which revealed these four novel mutations were pathogenic.
This study expands the mutation spectrum of oculocutaneous albinism. Four novel mutational alleles c.1139-1141delTGG, c.1832 T > C and c.2195C > G and of the OCA2 gene and c.561_562insTTATTATGTGTCAAATTATCCCCCA of TYR were associated with OCA. The genotype-phenotype correlations suggest that molecular diagnosis is more accurate and important in OCA.
Propionic acidemia (PA) is an autosomal recessive metabolic disorder caused by the deficiency of the mitochondrial protein propionyl-CoA carboxylase (PCC) and is associated with pathogenic variants ...in either of the two genes PCCA or PCCB. The present study aimed to identify the genetic cause of three Chinese patients with PA.
Three Chinese PA patients were diagnosed by using gas chromatography-mass spectrometry(GC-MS), tandem mass spectrometry (MS/MS) and molecular diagnostic methods. All patients had onset in the neonatal period. One patient died of infection and metabolic decompensation, and the other two had mild to moderate developmental delay/mental retardation. Mutation analysis of the PCCA gene identified that patient 1 carried the compound heterozygous c.1288C > T(p.R430X) and c.2002G > A(p.G668R), and patient 2 was homozygous for the c.1426C > T(p.R476X) mutation. Mutation analysis of the PCCB gene identified that patient 3 harbored the compound heterozygous mutations c.359_360del AT(p.Y120Cfs*40) and c.1398 + 1G > A. Among these mutations, three (c.1288C > T, c.359_360del AT and c.1398 + 1G > A) are novel.
We reported three Chinese PA patients who had PCCA or PCCB mutants. Among them, in the PCCA gene, c.1288C > T(p.R430X) was a nonsense mutation, resulting in a truncated protein. c.359_360del AT was a frameshift mutation, leading to a p.Y120Cfs*40 change in the amino acid sequence in the PCCB protein. c.1398 + 1G > A was a splicing mutation, causing skipping of the exons 13-14. In conclusion, the novel mutations uncovered in this study will expands the mutation spectrum of PA.
, characterized by its expansive leaves, low height, strong reproductive capacity, and abundant bioactive compounds, has extensive utility in the realms of food processing, the manufacturing of ...packaging materials, and the advancement of novel pharmaceuticals. Two light environments, CK (100% full light) and ST (50% full light), were established to explore the effects of low-light environments on the reproductive ability, morphological characteristics, photosynthetic properties, and leaf active substances of 14
species. The findings revealed that in comparison to the CK treatment, for 14 species of
under the ST treatment, (1) the diameter, single leaf area, and leaf area index increased by 8.27%, 8.14%, and 17.88%, respectively; (2) the net photosynthetic rate decreased by 15.14%, and the total chlorophyll contents increased by 20.25%; and (3) the total flavonoid contents increased by 18.28% in autumn, the total polyphenol contents increased by 48.96% in spring, and the total polysaccharide contents increased by 31.44% and 30.81% in summer and winter, respectively. In summary,
are adapted to survive in low-light environments; the growth and physiological indices differ significantly between the two light environments, and the low-light environment can effectively promote the growth and development of the leaves. Furthermore, the leaves are rich in flavonoids, polyphenols, polysaccharides, and active substances, which are affected by the light intensity and the season to varying degrees, and autumn and winter are the best times for harvesting the leaves. The leaves of
and
are richest in flavonoids and polyphenols, while the leaves of
cv. fuminer are richest in polysaccharides. The main findings of this study demonstrate that
has strong shade tolerance and tremendous leaf value, laying the foundation for broadening the application of their leaves and for their industrial development in understory composite planting systems.
Recent studies have shown that the combined application of ethylenediaminetetraacetic acid (EDTA) and degradable chelating agents can enhance EDTA's affinity for heavy metals and reduce its toxicity, ...but the effect of this combination on the phytoremediation remains largely unknown. This study evaluated and compared the effects of EDTA, nitrilotriacetic acid (NTA), and glutamic acid-N,N-diacetic acid (GLDA) alone (E, N, G treatment), and in combination (EN and EG treatment), on the growth of dwarf bamboo (
Q. H. Dai), their phytoremediation efficiency, and the soil environment in Pb-contaminated soil. The results showed that treatment E significantly reduced the biomass, while treatments N and EN were more conducive to the distribution of aerial plant biomass. Except for treatment E, the total Pb accumulation in all treatments increased significantly, with the highest increase in treatment EN. For double chelating agents, the acid-soluble Pb concentrations in rhizosphere and non-rhizosphere soils of treatments EN and EG were lower than those of treatment E, and the soil water-soluble Pb content after 20 days of treatment EN was significantly lower than that of treatment EG. Furthermore, chelating agents generally increased soil-enzyme activity in rhizosphere soil, indicating that chelating agents may promote plant heavy-metal uptake by changing the rhizosphere environment. In conclusion, treatment EN had the highest phytoremediation efficiency and significantly lower environmental risk than treatments E and EG, highlighting its massive potential for application in phytoremediation of Pb-contaminated soil when combined with
.
Men who have sex with men (MSM) are at a high risk for HIV infection. While pre-exposure prophylaxis (PrEP) is an effective oral preventive strategy, its success is largely dependent on consistent ...medication adherence.
The aim of this study was to develop the machine learning web application and evaluate the performance in predicting PrEP adherence.
The PrEP prospective cohort study of the MSM population conducted in Western China from 2019 to 2023, and we collected adherence data and personal characteristics data from 747 MSM. Predictor variables were screened and the performance of several machine learning methods in predicting nonadherent behaviors were compared.
A total of 11 candidate variables were screened that predicted nonadherent behaviors. We developed and evaluated five machine learning models that performed well in predicting adherence. Attitudes of male sexual partners, self-efficacy, HIV testing, number of male sexual partners, and risk perception were the most important predictors of adherence. The optimal prediction model was displayed in a shiny web application for online calculation of the probability of occurrence of nonadherent behaviors among MSM.
Machine learning performed well in predicting nonadherent behaviors among MSM. An interactive and intuitive web application can help identify individuals who may have nonadherent behaviors, resulting in improved medication adherence and increased prevention efficacy.
Objective. To compare the biomechanical properties of a new memory compression alloy plate and traditional titanium plate after anterior cervical discectomy and fusion (ACDF). Methods. A finite ...element model of the C3-7 segments was developed and validated. The C5-6 disc was removed, and an intervertebral cage made of peek material was implanted. Then, a new memory compression alloy plate composed of Ti-Ni memory alloy and a traditional titanium plate were integrated at the C5-6 segment. All models were subjected to a load of 73.6 N to simulate the head weight and 1 Nm of flexion-extension, lateral bending, and axial rotation. The range of segmental motion (ROM) and stress on the prostheses, adjacent discs, and endplates were analyzed. Results. Compared with intact status, ACDF with the new prothesis and traditional titanium plate reduced the ROM of C5-6 in six directions by 95.2%-100% and increased that of adjacent discs (C4-5 and C6-7) by 4.8%-112.5%. Adjacent disc stress peaks were higher for the traditional titanium plate (0.7-4.2 MPa) than for the new prosthesis (0.6-4.1 MPa). Endplate stress peaks were the highest in ACDF with the new prosthesis (15.6-53.3 MPa), followed by ACDF with traditional titanium plate (5.0-29.4 MPa). Stress peaks were significantly lower for the new prothesis (12.8-52.3 MPa) than for the traditional titanium plate (397.0-666.1 MPa). Conclusions. The new prosthesis improved the immediate stability of the surgical site and had an elastic modulus that was smaller than that of traditional titanium plate, making it conducive to reducing stress shielding and the impact on the adjacent intervertebral disc.
To explore the clinical features and genetic etiology for a child with developmental delay, impaired growth, facial dysmorphism, and axonal neuropathy (DIGFAN).
A child who was admitted to the Second ...Affiliated Hospital of Guangxi Medical University on March 22, 2021 was selected the study subject. Clinical data of the child was collected. Following extraction of genomic DNA, the child and his parents were subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing and bioinformatic analysis.
The child, a 10-year-and-9-month-old boy, had manifested with short stature, intellectual disability, delayed speech, motor and language development, and facial dysmorphism. WES and Sanger sequencing revealed that he has harbored a novel de novo c.800T>C (p.Leu267Pro) variant of the MORC2 gene. The Leucine at position 267, which is highly conserved among various species, is located in the S5 domain of ribosome protein in the ATPase binding region of MORC2. And the Leu267Pro may affe
Recent studies have shown that the combined application of ethylenediaminetetraacetic acid (EDTA) and degradable chelating agents can enhance EDTA’s affinity for heavy metals and reduce its toxicity, ...but the effect of this combination on the phytoremediation remains largely unknown. This study evaluated and compared the effects of EDTA, nitrilotriacetic acid (NTA), and glutamic acid-N,N-diacetic acid (GLDA) alone (E, N, G treatment), and in combination (EN and EG treatment), on the growth of dwarf bamboo (Indocalamus decorus Q. H. Dai), their phytoremediation efficiency, and the soil environment in Pb-contaminated soil. The results showed that treatment E significantly reduced the biomass, while treatments N and EN were more conducive to the distribution of aerial plant biomass. Except for treatment E, the total Pb accumulation in all treatments increased significantly, with the highest increase in treatment EN. For double chelating agents, the acid-soluble Pb concentrations in rhizosphere and non-rhizosphere soils of treatments EN and EG were lower than those of treatment E, and the soil water-soluble Pb content after 20 days of treatment EN was significantly lower than that of treatment EG. Furthermore, chelating agents generally increased soil-enzyme activity in rhizosphere soil, indicating that chelating agents may promote plant heavy-metal uptake by changing the rhizosphere environment. In conclusion, treatment EN had the highest phytoremediation efficiency and significantly lower environmental risk than treatments E and EG, highlighting its massive potential for application in phytoremediation of Pb-contaminated soil when combined with I. decorus.
Indocalamus, characterized by its expansive leaves, low height, strong reproductive capacity, and abundant bioactive compounds, has extensive utility in the realms of food processing, the ...manufacturing of packaging materials, and the advancement of novel pharmaceuticals. Two light environments, CK (100% full light) and ST (50% full light), were established to explore the effects of low-light environments on the reproductive ability, morphological characteristics, photosynthetic properties, and leaf active substances of 14 Indocalamus species. The findings revealed that in comparison to the CK treatment, for 14 species of Indocalamus under the ST treatment, (1) the diameter, single leaf area, and leaf area index increased by 8.27%, 8.14%, and 17.88%, respectively; (2) the net photosynthetic rate decreased by 15.14%, and the total chlorophyll contents increased by 20.25%; and (3) the total flavonoid contents increased by 18.28% in autumn, the total polyphenol contents increased by 48.96% in spring, and the total polysaccharide contents increased by 31.44% and 30.81% in summer and winter, respectively. In summary, Indocalamus are adapted to survive in low-light environments; the growth and physiological indices differ significantly between the two light environments, and the low-light environment can effectively promote the growth and development of the leaves. Furthermore, the leaves are rich in flavonoids, polyphenols, polysaccharides, and active substances, which are affected by the light intensity and the season to varying degrees, and autumn and winter are the best times for harvesting the leaves. The leaves of I. hunanensis and I. lacunosus are richest in flavonoids and polyphenols, while the leaves of I. kunmingensis cv. fuminer are richest in polysaccharides. The main findings of this study demonstrate that Indocalamus has strong shade tolerance and tremendous leaf value, laying the foundation for broadening the application of their leaves and for their industrial development in understory composite planting systems.
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