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Background: Molar hypomineralization (MH) is defined as a multifactorial condition, and thus, its presence may be defined by interactions between environmental and genetic factors. Aim: To evaluate the association between MH, genes involved in enamel development, and the use of medication during pregnancy in early childhood. Design: One hundred and eighteen children, 54 with and 64 without MH, were studied. The data collected included demographics, socioeconomic data, and the medical history of mothers and children. Genomic DNA was collected from saliva. Genetic polymorphisms in ameloblastin (AMBN; rs4694075), enamelin (ENAM; rs3796704, rs7664896), and kallikrein (KLK4; rs2235091) were evaluated. These genes were analyzed by real‐time polymerase chain reaction using TaqMan chemistry. The software PLINK was used to compare allele and genotype distributions of the groups and to assess the interaction between environmental variables and genotypes (p <.05). Results: The variant allele KLK4 rs2235091 was associated with MH in some children (odds ratio [OR]: 3.75; 95% confidence interval [CI] = 1.65–7.81; p =.001). Taking medications in the first 4 years of life was also associated with MH (OR: 2.94; 95% CI = 1.02–6.04; p =.041) and specifically in association with polymorphisms in ENAM, AMBN, and KLK4 (p <.05). The use of medications during pregnancy was not associated with MH (OR: 1.37; 95% CI = 0.593–3.18; p =.458). Conclusion: The results of this study suggest that taking medication in the postnatal period appears to contribute to the etiology of MH in some evaluated children. There may be a possible genetic influence of polymorphisms in the KLK4 gene with this condition. [ABSTRACT FROM AUTHOR]

Variants at the SLC30A8 locus are associated with type 2 diabetes (T2D) risk. The lead variant, rs13266634, encodes an amino acid change, Arg325Trp (R325W), at the C-terminus of the secretory granule-enriched zinc transporter, ZnT8. Although this protein-coding variant was previously thought to be the sole driver of T2D risk at this locus, recent studies have provided evidence for lowered expression of SLC30A8 mRNA in protective allele carriers. In the present study, we examined multiple variants that influence SLC30A8 allele-specific expression. Epigenomic mapping has previously identified an islet-selective enhancer cluster at the SLC30A8 locus, hosting multiple T2D risk and cASE associations, which is spatially associated with the SLC30A8 promoter and additional neighboring genes. Here, we show that deletion of variant-bearing enhancer regions using CRISPR-Cas9 in human-derived EndoC-ßH3 cells lowers the expression of SLC30A8 and several neighboring genes and improves glucose-stimulated insulin secretion. While downregulation of SLC30A8 had no effect on beta cell survival, loss of UTP23, RAD21, or MED30 markedly reduced cell viability. Although eQTL or cASE analyses in human islets did not support the association between these additional genes and diabetes risk, the transcriptional regulator JQ1 lowered the expression of multiple genes at the SLC30A8 locus and enhanced stimulated insulin secretion. [ABSTRACT FROM AUTHOR]

Background: Hepatocellular carcinoma (HCC) is a malignant tumor with high morbidity and mortality rate that seriously threatens human health. We aimed to investigate the expression, prognostic value, and immune cell infiltration of lactic acid metabolism-related genes (LAMRGs) in HCC using bioinformatics. Methods: The HCC database (The Cancer Genome Atlas-Liver Hepatocellular Carcinoma) was downloaded from the Cancer Genome Atlas (TCGA). Differentially expressed genes (DEGs) between normal and tumor groups were identified. The LAMRGs were obtained from literature and GeneCards and MSigDB databases. Lactic acid metabolism-related differentially expressed genes (LAMRDEGs) in HCC were screened from the DEGs and LAMRGs. Functional enrichment analyses of the screened LAMRDEGs were further conducted using Gene Ontology (GO) analysis, Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis, and Gene Set Enrichment Analysis (GSEA). The genes were used in multivariate Cox regression and least absolute shrinkage and selection operator (LASSO) analyses to construct a prognostic model. Then, a protein-protein interaction network was constructed using STRING and CTD databases. Furthermore, the CIBERSORTx online database was used to assess the relationship between immune cell infiltration and hub genes. Results: Twenty-eight lactic acid metabolism-related differentially expressed genes (LAMRDEGs) were identified. The GO and KEGG analyses showed that the LAMRDEGs were related to the prognosis of HCC. The GSEA indicated that the LAMRDEGs were significantly enriched in tumor related pathways. In the multivariate Cox regression analysis, 14 key genes (E2F1, SERPINE1, GYS2, SPP1, PCK1, CCNB1, CYP2C9, IGFBP3, KDM8, RCAN1, ALPL, FBP1, NQO1, and LCAT) were found to be independent prognostic factors of HCC. Finally, the LASSO and Cox regression analyses showed that six key genes (SERPINE1, SPP1, CCNB1, CYP2C9, NQO1, and LCAT) were associated with HCC prognosis. Moreover, the correlation analyses revealed that the expression of the six key genes were associated with immune infiltrates of HCC. Conclusion: The LAMRDEGs can predict the prognosis and may be associated with immune cells infiltration in patients with HCC. These genes might be the promising biomarkers for the prognosis and treatment of HCC. [ABSTRACT FROM AUTHOR]

Background: The diagnosis of Precancerous Lesions of Gastric Cancer (PLGC) is challenging in clinical practice. We conducted a clinical study by analyzing the information of relevant chromosome copy number variations (CNV) in the TCGA database followed by the UCAD technique to evaluate the value of Chromosomal Instability (CIN) assay in the diagnosis of PLGC. Methods: Based on the screening of gastric cancer related data in TCGA database, CNV analysis was performed to explore the information of chromosome CNV related to gastric cancer. Based on the gastroscopic pathology results, 12 specimens of patients with severe atrophy were screened to analyze the paraffin specimens of gastric mucosa by UCAD technology, and to explore the influence of related factors on them. Results: The results of CNV in TCGA database suggested that chromosome 7, 8, and 17 amplification was obvious in patients with gastric cancer. UCAD results confirmed that in 12 patients with pathologic diagnosis of severe atrophy, five of them had positive results of CIN, with a positive detection rate of 41.7%, which was mainly manifested in chromosome seven and chromosome eight segments amplification. We also found that intestinalization and HP infection were less associated with CIN. And the sensitivity of CIN measurement results was significantly better than that of tumor indicators. Conclusion: The findings suggest that the diagnosis of PLGC can be aided by UCAD detection of CIN, of which Chr7 and 8 may be closely related to PLGC. [ABSTRACT FROM AUTHOR]

Background: Neural tube defects (NTDs) is the most common birth defect of the central nervous system (CNS) which causes the death of almost 88,000 people every year around the world. Much efforts have been made to investigate the reasons that contribute to NTD and explore new ways to for prevention. We trawl the past decade (2013-2022) published records in order to get a worldwide view about NTDs research field. Methods: 7,437 records about NTDs were retrieved from the Web of Science (WOS) database. Tools such as shell scripts, VOSviewer, SCImago Graphica, CiteSpace and PubTator were used for data analysis and visualization. Results: Over the past decade, the number of publications has maintained an upward trend, except for 2022. The United States is the country with the highest number of publications and also with the closest collaboration with other countries. Baylor College of Medicine has the closest collaboration with other institutions worldwide and also was the most prolific institution. In the field of NTDs, research focuses on molecular mechanisms such as genes and signaling pathways related to folate metabolism, neurogenic diseases caused by neural tube closure disorders such as myelomeningocele and spina bifida, and prevention and treatment such as folate supplementation and surgical procedures. Most NTDs related genes are related to development, cell projection parts, and molecular binding. These genes are mainly concentrated in cancer, Wnt, MAPK, PI3K-Akt and other signaling pathways. The distribution of NTDs related SNPs on chromosomes 1, 3, 5, 11, 14, and 17 are relatively concentrated, which may be associated with high-risk of NTDs. Conclusion: Bibliometric analysis of the literature on NTDs field provided the current status, hotspots and future directions to some extant. Further bioinformatics analysis expanded our understanding of NTDs-related genes function and revealed some important SNP clusters and loci. This study provided some guidance for further studies. More extensive cooperation and further research are needed to overcome the ongoing challenge in pathogenesis, prevention and treatment of NTDs. [ABSTRACT FROM AUTHOR]

Bayesian networks represent a useful tool to explore interactions within biological systems. The aims of this study were to identify a reduced number of genes associated with a stress condition in chickens (Gallus gallus) and to unravel their interactions by implementing a Bayesian network approach. Initially, one publicly available dataset (3 control vs. 3 heat-stressed chickens) was used to identify the stress signal, represented by 25 differentially expressed genes (DEGs). The dataset was augmented by looking for the 25 DEGs in other four publicly available databases. Bayesian network algorithms were used to discover the informative relationships between the DEGs. Only ten out of the 25 DEGs displayed interactions. Four of them were Heat Shock Proteins that could be playing a key role, especially under stress conditions, where maintaining the correct functioning of the cell machinery might be crucial. One of the DEGs is an open reading frame whose function is yet unknown, highlighting the power of Bayesian networks in knowledge discovery. Identifying an initial stress signal, augmenting it by combining other databases, and finally learning the structure of Bayesian networks allowed us to find genes closely related to stress, with the possibility of further exploring the system in future studies. [ABSTRACT FROM AUTHOR]

Evidence suggests that insulin resistance plays an important role in developing diabetes complications. The association between insulin resistance and pain perception is less well understood. This study aimed to investigate the effects of peripheral insulin deficiency on pain pathways in the brain. Diabetes was induced in 60 male rats with streptozotocin (STZ). Insulin was injected into the left ventricle of the brain by intracerebroventricular (ICV) injection, then pain was induced by subcutaneous injection of 2.5% formalin. Samples were collected at 4 weeks after STZ injection. Dopamine (DA), serotonin, reactive oxygen species (ROS), and mitochondrial glutathione (mGSH) were measured by ELISA, and gene factors were assessed by RT‐qPCR. In diabetic rats, the levels of DA, serotonin, and mGSH decreased in the nuclei of the thalamus, raphe magnus, and periaqueductal gray, and the levels of ROS increased. In addition, the levels of expression of the neuron‐specific enolase and receptor for advanced glycation end genes increased, but the expression of glial fibrillary acidic protein expression was reduced. These results support the findings that insulin has an analgesic effect in non‐diabetic rats, as demonstrated by the formalin test. ICV injection of insulin reduces pain sensation, but this was not observed in diabetic rats, which may be due to cell damage ameliorated by insulin. [ABSTRACT FROM AUTHOR]

Trichomes are specialized organs located in the plant epidermis that play important defense roles against biotic and abiotic stresses. However, the mechanisms regulating the development of pepper epidermal trichomes and the related regulatory genes at the molecular level are not clear. Therefore, we performed transcriptome analyses of A114 (less trichome) and A115 (more trichome) to dig deeper into the genes involved in the regulatory mechanisms of epidermal trichome development in peppers. In this study, the epidermal trichome density of A115 was found to be higher by phenotypic observation and was highest in the leaves at the flowering stage. A total of 39,261 genes were quantified by RNA-Seq, including 11,939 genes not annotated in the previous genome analysis and 18,833 differentially expressed genes. Based on KEGG functional enrichment, it was found that DEGs were mainly concentrated in three pathways: plant–pathogen interaction, MAPK signaling pathway-plant, and plant hormone signal transduction. We further screened the DEGs associated with the development of epidermal trichomes in peppers, and the expression of the plant signaling genes GID1B-like (Capana03g003488) and PR-6 (Capana09g001847), the transcription factors MYB108 (Capana05g002225) and ABR1-like (Capana04g001261), and the plant resistance genes PGIP-like (Capana09g002077) and At5g49770 (Capana08g001721) in the DEGs were higher at A115 compared to A114, and were highly expressed in leaves at the flowering stage. In addition, based on the WGCNA results and the establishment of co-expression networks showed that the above genes were highly positively correlated with each other. The transcriptomic data and analysis of this study provide a basis for the study of the regulatory mechanisms of pepper epidermal trichomes. [ABSTRACT FROM AUTHOR]

Background: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, which leads to muscle weakness and eventual paralysis. Numerous studies have indicated that mitophagy and immune inflammation have a significant impact on the onset and advancement of ALS. Nevertheless, the possible diagnostic and prognostic significance of mitophagy-related genes associated with immune infiltration in ALS is uncertain. The purpose of this study is to create a predictive model for ALS using genes linked with mitophagyassociated immune infiltration. Methods: ALS gene expression profiles were downloaded from the Gene Expression Omnibus (GEO) database. Univariate Cox analysis and machine learning methods were applied to analyze mitophagy-associated genes and develop a prognostic risk score model. Subsequently, functional and immune infiltration analyses were conducted to study the biological attributes and immune cell enrichment in individuals with ALS. Additionally, validation of identified feature genes in the prediction model was performed using ALS mouse models and ALS patients. Results: In this study, a comprehensive analysis revealed the identification of 22 mitophagy-related differential expression genes and 40 prognostic genes. Additionally, an 18-gene prognostic signature was identified with machine learning, which was utilized to construct a prognostic risk score model. Functional enrichment analysis demonstrated the enrichment of various pathways, including oxidative phosphorylation, unfolded proteins, KRAS, and mTOR signaling pathways, as well as other immune-related pathways. The analysis of immune infiltration revealed notable distinctions in certain congenital immune cells and adaptive immune cells between the low-risk and high-risk groups, particularly concerning the T lymphocyte subgroup. ALS mouse models and ALS clinical samples demonstrated consistent expression levels of four mitophagy-related immune infiltration genes (BCKDHA, JTB, KYNU, and GTF2H5) with the results of bioinformatics analysis. Conclusion: This study has successfully devised and verified a pioneering prognostic predictive risk score for ALS, utilizing eighteen mitophagy-related genes. Furthermore, the findings indicate that four of these genes exhibit promising roles in the context of ALS prognostic. [ABSTRACT FROM AUTHOR]

Climate change has caused fluctuations in the frequency and severity of droughts, favoring extended periods of drought associated with anthropic actions and triggering other stressful abiotic effects that threaten terrestrial ecosystems. As climate warming intensifies, drought is a major challenge for forest growth. Pine (Pinus Linn. ) is an important genus of forest in the Northern Hemisphere and has a certain tolerance to drought. This article analyzes and reviews the advances in research about drought stress of major Pinus spp. plants in recent years and discusses understanding and future core problems. To adapt to water-deficient environments, pine plants adapt to drought by changing growth traits, closing some stomata on leaves, changing the growth and structure of roots, and adjusting their physiological activities. Moreover, the expression of specific genes is altered, causing changes in the expression of several signaling molecules and metabolites to counteract drought stress. [ABSTRACT FROM AUTHOR]

Syndromic autism refers to autism spectrum disorder diagnosed in the context of a known genetic syndrome. The specific manifestations of any one of these syndromic autisms are related to a clinically defined genetic syndrome that can be traced to certain genes and variants, genetic deletions, or duplications at the chromosome level. The genetic mutations or defects in single genes associated with these genetic disorders result in a significant elevation of risk for developing autism relative to the general population and are related to recurrence with inheritance patterns. Additionally, these syndromes are associated with typical behavioral characteristics or phenotypes as well as an increased risk for specific behavioral or psychiatric disorders and clinical findings. Knowledge of these associations helps guide clinicians in identifying potentially treatable conditions that can help to improve the lives of affected patients and their families. [ABSTRACT FROM AUTHOR]

Background: Pulmonary mucinous adenocarcinoma is a special type of lung cancer. Its imaging manifestations are diverse, which brings challenges to clinical diagnosis. However, its formation mechanism is unclear. Objective: The objective of this study is to analyse the relevant mechanisms of the formation of pulmonary mucinous adenocarcinoma by observing its different imaging and pathological manifestations. Data and methods: Retrospective analysis was conducted on imaging manifestations and pathological data of 103 patients with pulmonary mucinous adenocarcinoma confirmed intraoperatively or pathologically. Results: Forty‐three patients had pulmonary mucinous adenocarcinoma with a solitary nodule/mass, 41 patients with localized pneumonia and 19 patients with diffuse pneumonia. Their CT manifestations included 'falling snowflake sign', ground‐glass opacity close to the heart, vacuous signs/honeycombing and withered tree branches. Under the microscope, all the three types of pulmonary mucinous adenocarcinoma had visibly formed mucus lakes but were made of tumour cells with totally different shapes, which included the goblet‐like shape (tall column‐like shape) and quasi‐circular shape. Tall column‐shaped tumour cells were negative or weakly positive for thyroid transcription factor‐1 (TTF‐1) and strongly positive for ALK mutation, whereas quasi‐circular tumour cells were positive for TTF‐1 and less positive for ALK mutation. Conclusion: The different imaging manifestations of mucinous adenocarcinoma are possibly due to the different amounts or viscosity of mucus produced, and the mechanisms of its formation may include (1) tumour cells in different shapes have different abilities to produce mucus; (2) tumours in different stages produce different amounts or viscosity of mucus; and (3) the TTF‐1 and ALK genes affect the production of mucus. [ABSTRACT FROM AUTHOR]

Potato is the fourth largest food crop in the world and also a major food crop in China. It plays a significant role in ensuring food security. With global warming, drought has become a frequent natural disaster in agricultural production, seriously restricting potato production. The mechanism of drought resistance in potato was reviewed from the aspects of signal transduction, transcription factors and osmotic regulation, and the approaches and measures to improve drought resistance in potato were discussed from the aspects of the development of multi-omics. Furthermore, the research direction and methods of potato drought tolerance were prospected. This review would provide reference for further study of potato drought resistance mechanism and breeding of improved varieties. [ABSTRACT FROM AUTHOR]

Objective: To analyze differences in peripheral blood T-cell receptor （TCR） genes in patients with viral pneumonia by single cell sequencing, and to explore its possible pathogenesis. Methods: Data in NCBI database was obtained, and case and control groups were set up for experiments. Single cell sequencing data was analyzed of by R language in RStudio software, tables and images were plotted, and finally conclusions were drawn. Results: There was a significant difference in TCRs between case and healthy control groups. Frequency of use of V and J gene fragments of TCR α and β chains were analyzed, in which frequency of use of TRAV1-2, TRAV29/DV5, TRAJ33, TRAJ48, TRBV20-1, TRBV2, TRBJ2-3 and TRBJ1-1 genes were significantly higher in case group than in control group（ P<0.05）. Further V-J gene combination analysis showed that the most frequent use of α-chain V-J pairs in case group was TRAV1-2-J33, most frequent use of β-chain V-J pairs was TRBV20-1-J2-1, most frequent use of αβ double-chain V-J pairs was TRAV30-J24-TRBV3-1-J2-7. Conclusion: Peripheral blood TCR genes are significantly altered in patients with viral pneumonia, which may be related to immunopathogenesis of virus. [ABSTRACT FROM AUTHOR]

Objective To explore the construction of a prognostic polygene expression risk model in patients with sepsis and to evaluate its predictive performance. Methods A total of 140 patients with sepsis from January 2019 to June 2022 were included. Patients were divided into the death group and survival group based on their 28-day mortality after hospitalization. Clinical data and laboratory indicators were compared between the two groups. Reverse transcription quantitative polymerase chain reaction (RT-qPCR) was used to determine the gene expression levels of peripheral blood microRNA103 (miR103), Toll-like Receptor 2 (TLR2), Signal Transducer and Activator of Transcription 3 (STAT3), and autophagy-related protein Beclinl in all patients. Multivariate COX regression analysis was employed to identify relevant factors for the 28-day mortality risk in sepsis patients. The Ggrisk software was used for risk model construction, and the ROC curve was drawn to assess the model's performance. Results The death group showed statistically significant differences in SOFA score, age, and APACHE II score compared to the survival group (P<0.05). The relative expression levels of miR103, TLR2, STAT3, and Beclinl genes in the death group were significantly different from those in the survival group (P<0.05). Multivariate COX regression analysis revealed that miR103, TLR2, STAT3, and Beclinl genes were independent factors for the 28-day mortality risk in sepsis patients. ROC curve analysis demonstrated that the predictive risk model constructed from these genes had excellent predictive value for early warning of 28-day mortality (AUC=0.964, P=0.000), with a sensitivity of 97. 50% and specificity of 91.00%. Comparative analysis showed that the predictive efficacy of the risk model constructed from these genes was significantly higher than that of the APACHE II score and SOFA score (both P<0.001). Conclusion The expression levels of miR103, TLR2, STAT3, and Beclinl genes are correlated with the 28-day mortality risk in sepsis patients. The constructed multigene expression risk model can effectively predict the 28-day mortality risk in sepsis, demonstrating superior performance compared to the APACHE II score and SOFA score. [ABSTRACT FROM AUTHOR]

In sheep, the woolly or hairy fleece type shows variation within and between breeds and populations. Recently, the woolly allele was shown to result from the insertion of an antisens retrogene into the 3'UTR of the ovine IRF2BP2 gene. The purpose of this study was to examine this InDel polymorphism within the IRF2BP2 gene using a specific PCR genotyping in 17 North African (Algeria and Tunisia) and Iranian sheep breeds showing various fleece types. The genotyping of the overall animals (n=908) showed the segregation of the two alleles insertion (I) and deletion (D), and the three genotypes (II, ID and DD) with various frequencies. Ouled Djellal, Rembi and Tâadmit known as woolly breeds had 100%, 94% and 94% of II homozygous animals, respectively. In contrast, Ifilène and Sidaou known as hairy breeds had 100% and 99% of DD homozygous animals. Other breeds showed the segregation of the I allele with a frequency from 3% to 91%. An association analysis, carried out only for the Algerian sheep breeds, revealed that this polymorphism was significantly associated with the fleece type trait (P<0.05). Thus, the current work meets previous results to further confirm the genetic effect of the insertion occurring into the 3' UTR of the IRF2BP2 gene on the fleece type trait of sheep breeds. [ABSTRACT FROM AUTHOR]

Background and Objectives: Amphotericin B is a broad-spectrum antifungal agent commonly used to treat Candida haemulonii infection. C. haemulonii was isolated from patients reported to be intrinsically resistant to amphotericin B, encoded by the ERG2 and ERG11 genes. However, there have been limited studies concerning amphotericin B-resistant C. haemulonii in Indonesia. The objective of this study is to explore the phenotypic and genotypic characteristics (ERG2 and ERG11) of C. haemulonii isolated from the ICU of a referral hospital in Indonesia. Materials and Methods: Identification and susceptibility tests were conducted using VITEK2. Thereafter, DNA was extracted and amplified using conventional PCR followed by DNA sequencing (Sanger method). Results: The results of the phenotypic susceptibility test showed that all C. haemulonii were resistant to amphotericin B. ERG2 and ERG11 sequences showed the same amino acid sequence and corresponded to references that are resistant to amphotericin B. Conclusion: The resistant properties of C. haemulonii against amphotericin B found in this study require further exploration, including comparing resistant and sensitive C. haemulonii to amphotericin B. In addition, it is necessary to analyze other genes besides ERG2 and ERG11. [ABSTRACT FROM AUTHOR]

In case of a nuclear accident, individuals with high-dose radiation exposure (>1–2 Gy) should be rapidly identified. While ferredoxin reductase (FDXR) was recently suggested as a radiation-responsive gene, the use of a single gene biomarker limits radiation dose assessment. To overcome this limitation, we sought to identify reliable radiation-responsive gene biomarkers. Peripheral blood mononuclear cells (PBMCs) were isolated from mice after total body irradiation, and gene expression was analyzed using a microarray approach to identify radiation-responsive genes. In light of the essential role of the immune response following radiation exposure, we selected several immune-related candidate genes upregulated by radiation exposure in both mouse and human PBMCs. In particular, the expression of ACOD1 and CXCL10 increased in a radiation dose-dependent manner, while remaining unchanged following lipopolysaccharide (LPS) stimulation in human PBMCs. The expression of both genes was further evaluated in the blood of cancer patients before and after radiotherapy. CXCL10 expression exhibited a distinct increase after radiotherapy and was positively correlated with FDXR expression. CXCL10 expression in irradiated PBMCs represents a potential biomarker for radiation exposure. [ABSTRACT FROM AUTHOR]

Background: Neurometabolic diseases are the results of genetic changes that lead to an imbalance in energy utilization and metabolism. Aim: Our aim was to explore the update in treatment and diagnosis of neurometabolic disease. Methods: PubMed, Scopus, Google scholar, and the web of science were searched for studies reported in the last 20 years (1997-30/10/2020). The data was searched and archived by keywords like "Neurometabolic", "neurogenesis", and "role of neuro-degeneration in neurometabolic disease" without narrowing or limiting search items. Only abstracts of searched publications were reviewed. A total of 389 publications were found in the initial research, in which 62 publications were considered for the study and the remaining were excluded because of their specificity to the subject. Study update: The neurometabolic disease affects one in 500 newborns, causing a major burden of illness and infant mortality. However, the cause of the disease is unclear in up to 50% of neurologicallike cases. Thus, we ask why are they referred to as neurometabolic disorders (NMD), despite extensive genetic and biochemistry investigations? Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. Except for some notable exceptions, treatment remains largely unsatisfactory. Therefore, research efforts concentrate on corrective genetic approaches applicable after early detection by newborn screening or before fertilization. We considered recent studies on treating neurometabolic diseases. We focused on the most common neurometabolic diseases and the associated clinical advancements in their therapy. [ABSTRACT FROM AUTHOR]

Purpose: This study aimed to analyze the genetic results of inherited retinal diseases (IRDs) and evaluate the diagnostic usefulness of whole genome sequencing (WGS) in the Korean National Project of Bio Big Data. Methods: As part of the Korean National Project of Bio Big Data, WGS was performed on 32 individuals with IRDs with no identified pathogenic variants through whole or targeted exome sequencing. Results: Individuals with retinitis pigmentosa (n = 23), cone dystrophy (n = 2), cone-rod dystrophy (n = 2), familial exudative vitreoretinopathy (n = 2), pigmented paravenous chorioretinal atrophy (n = 1), North Carolina macular dystrophy (n = 1), and bull's-eye macular dystrophy (n = 1) were included. WGS revealed genetic mutations in the IQCB1, PRPF31, USH2A, and GUCY2D genes in five cases (15.6%). Two large structural variations and an intronic variant were newly detected in three cases. Two individuals had biallelic missense mutations that were not identified in previous exome sequencing. Conclusion: With WGS, the causative variants in 15.6% of unsolved IRDs from the Korean National Project of Bio Big Data were identified. Further research with a larger cohort might unveil the diagnostic usefulness of WGS in IRDs and other diseases. [ABSTRACT FROM AUTHOR]

Genetic variations in the human cytochrome P450 family 2 subfamily C member 9 (CYP2C9) and cytochrome P450 family 2 subfamily D member 6 (CYP2D6) genes may affect drug metabolism and lead to alterations in phenotypes. Genetic variations are associated with toxicity, adverse drug reactions, inefficient treatment. Various in silico tools were combined to investigate the deleterious effects of missense non-synonymous single nucleotide polymorphisms (nsSNPs) of the human CYP2C9 and CYP2D6. The structural and functional effects of the high-risk non-synonymous SNPs in the human CYP2C9 and CYP2D6 were predicted by numerous computational mutation analysis methods. Out of 24 pathogenic missense SNPs in the CYP2C9, 22 nsSNPs had a decreasing effect on protein stability and 13 SNPs were showed to be located at conserved positions. Out of 27 high-risk deleterious non-synonymous SNPs in the human CYP2D6, 21 SNPs decreased protein stability and 16 nsSNPs were predicted to be positioned at conserved regions. Our present study suggests that the identified functional SNPs may affect drug metabolism associated with CYP2C9 and CYP2D6 enzymes. [ABSTRACT FROM AUTHOR]

A gene library is a collection of different DNA sequences from an organism, which has been cloned into vectors for ease of purification, storage, and analysis. There are two types of gene libraries based on the availability of a source of DNA used. The genomic library contains DNA fragments that represent the entire genome of an organism, whereas CDNA libraries will contain only the complementary DNA molecules synthesized from the mRNA molecules in a cell. For the construction of gene libraries, we have to know the size of the gene and insert size or capacity of vectors. Vectors used for gene library construction are plasmid, lambda phage, Cosmid, bacterial artificial chromosome, and yeast artificial chromosome. The most commonly used vector type is lambda, but most genomic libraries are constructed using BAC and YAC vectors. For the construction of gene libraries, the steps followed are the isolation of bacteria followed by cloning and sequencing DNA. The main use of genetic libraries is to increase the likelihood that a particular portion of a DNA source will be found within the collection. It is used to collect and store information as a set of DNA molecules. Gene libraries are stored inside bacterial cells. Bacterial colonies have the ability to store different genes, similar to how books are stored in a library. [ABSTRACT FROM AUTHOR]

The MYB gene family exerts significant influence over various biological processes and stress responses in plants. Despite this, a comprehensive analysis of this gene family in pumpkin remains absent. In this study, the MYB genes of Cucurbita moschata were identified and clustered into 33 groups (C1-33), with members of each group being highly conserved in terms of their motif composition. Furthermore, the distribution of 175 CmoMYB genes across all 20 chromosomes was found to be non-uniform. Examination of the promoter regions of these genes revealed the presence of cis-acting elements associated with phytohormone responses and abiotic/ biotic stress. Utilizing quantitative real-time polymerase chain reaction (qRT-PCR), the expression patterns of 13 selected CmoMYB genes were validated, particularly in response to exogenous phytohormone exposure and various abiotic stressors, including ABA, SA, MeJA, and drought treatments. Expression analysis in different tissues showed that CmoMYB genes are expressed at different levels in different tissues, suggesting that they are functionally divergent in regulating growth and abiotic stresses. These results provide a basis for future studies to characterize the function of the MYB gene family under abiotic stresses in pumpkins. [ABSTRACT FROM AUTHOR]

Introduction: This study aimed to screen immune-related marker genes of ischemic stroke (IS). Material and methods: Two IS-related gene expression datasets were downloaded. The significantly differentially expressed genes (DEGs) and miRNAs (DEMs) between IS and control groups were selected. The differential immune cells were analysed. Weighted gene co-expression network analysis (WGCNA) was applied to analyse immune-related genes, followed by function analysis and interaction network construction. Then, key genes were further screened using optimization algorithm to construct a diagnostic model. Finally, miRNA regulatory network of several key genes was established. Results: In total 321 DEGs and 140 DEMs were obtained. 11 immune cell types were significantly different between IS and control groups. WGCNA identified two key modules, involving 202 differential immune genes. The greenyellow module was enriched in biological processes and pathways associated with T cells, while the midnightblue module was mainly associated with apoptosis, and inflammatory response-related functions and pathways. Protein interaction network identified 10 hub nodes, such as CD8A, ITGAM and TLR4. LASSO regression selected 8 key feature genes, and a risk score model was established. Key model genes were enriched in 63 GO biological processes, such as microglial cell activation, and B cell apoptotic process, and 3 KEGG pathways, such as negative regulation of nuclear cell cycle DNA replication, and hematopoietic cell lineage. Finally, a total of 25 miRNA-target relationship pairs were obtained. Conclusions: This study identified some immune-related marker genes and constructed a diagnostic model based on 8 immune-related genes in IS. [ABSTRACT FROM AUTHOR]

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Clematis tomentella 2001 (Ranunculaceae) is a typical drought-tolerant sand-fixing plant in desert ecosystem in northwest China. To elucidate the phylogenetic status of C. tomentella and its related species, we determined the complete chloroplast (cp) genome and analyzed their interspecific relationships. The result showed that the cp genome of C. tomentella was 159 816 bp in length, including two inverted repeats of 31 045 bp, a large single copy region of 79 535 bp, and a small single copy region of 18 191 bp. 136 genes were annotated across the whole cp genome, including 92 protein-coding genes, 8 rRNA genes, and 36 tRNA genes, as well as the GC content accounted for 38%. Crucially, we found that the regions of psbE-petL, trnG_UCC-atpA, ndhF-rpl32, and rps8-infA were highly divergent, which could be marked as DNA barcodes for the identification of C. tomentella in Ranunculaceae. A maximum likelihood phylogenetic tree revealed that C. tomentella was closely related to C. fruticosa. Our results provide the references and implications for the phylogenetic study of Clematis in Ranunculaceae in the future. [ABSTRACT FROM AUTHOR]

Background: The Wnt/β-catenin pathway plays a critical role in the tumorigenesis and maintenance of glioma stem cells. This study aimed to evaluate significant genes associated with the Wnt/β-catenin pathway involved in mortality and disease progression in patients with grade II and III glioma, using the Cancer Genome Atlas (TCGA) database. Methods: We obtained clinicopathological information and mRNA expression data from 515 patients with grade II and III gliomas from the TCGA database. We performed a multivariate Cox regression analysis to identify genes independently associated with glioma prognosis. Results: The analysis of 34 genes involved in Wnt/β-catenin signaling demonstrated that four genes (CER1, FRAT1, FSTL1, and RPSA) related to the Wnt/β-catenin pathway were significantly associated with mortality and disease progression in patients with grade II and III glioma. We also identified additional genes related to the four significant genes of the Wnt/β-catenin pathway mentioned above. The higher expression of BMP2, RPL18A, RPL19, and RPS12 is associated with better outcomes in patients with glioma. Conclusions: Using a large-scale open database, we identified significant genes related to the Wnt/β-catenin signaling pathway associated with mortality and disease progression in patients with grade II and III gliomas. [ABSTRACT FROM AUTHOR]

Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

BackgroundGut microbiota (GM) and metabolic alterations play pivotal roles in lung cancer (LC) development and host genetic variations are known to contribute to LC susceptibility by modulating the GM. However, the causal links among GM, metabolite, host genes, and LC remain to be fully delineated.MethodThrough bidirectional MR analyses, we examined the causal links between GM and LC, and utilized two-step mediation analysis to identify potential mediating blood metabolite. We employed diverse MR methods, including inverse-variance-weighted (IVW), weighted median, MR-Egger, weighted mode, and simple mode, to ensure a robust examination of the data. MR-Egger intercept test, Radial MR, MR-PRESSO, Cochran Q test and Leave-one-out (LOO) analysis were used for sensitivity analyses. Analyses were adjusted for smoking, alcohol intake frequency and air pollution. Linkage disequilibrium score regression and Steiger test were used to probe genetic causality. The study also explored the association between specific host genes and the abundance of gut microbes in LC patients.ResultsThe presence of Bacteroides clarus was associated with an increased risk of LC (odds ratio [OR] = 1.07, 95% confidence interval [CI]: 1.03–1.11, p = 0.012), whereas the Eubacteriaceae showed a protective effect (OR = 0.82, 95% CI: 0.75–0.89, p = 0.001). These findings remained robust after False Discovery Rate (FDR) correction. Our mediator screening identified 13 blood metabolites that significantly influence LC risk after FDR correction, underscoring cystine and propionylcarnitine in reducing LC risk, while linking specific lipids and hydroxy acids to an increased risk. Our two-step mediation analysis demonstrated that the association between the bacterial pathway of synthesis of guanosine ribonucleotides and LC was mediated by Fructosyllysine, with mediated proportions of 11.38% (p = 0.037). LDSC analysis confirmed the robustness of these associations. Our study unveiled significant host genes ROBO2 may influence the abundance of pathogenic gut microbes in LC patients. Metabolic pathway analysis revealed glutathione metabolism and glutamate metabolism are the pathways most enriched with significant metabolites related to LC.ConclusionThese findings underscore the importance of GM in the development of LC, with metabolites partly mediating this effect, and provide dietary and lifestyle recommendations for high-risk lung cancer populations.

Background: Tiger nut juice is a popular non-alcoholic beverage in Nigeria, but it can be contaminated with bacteria that pose a risk to consumers. A study in Ogbete market, South Eastern Nigeria, aimed to identify virulence genes in Salmonella enterica subsp. enterica serovar Typhimurium found in tiger nut juice to assess the potential health threat. Materials and Methods: Fifty tiger nut juice with codes ATC1, MECB2, BNC3, CHA4, ERT5, TYR6, VMA7, EKA8, TMM9, and ORU10 were randomly purchased from Ogbete market vendors. Standard microbiological techniques and Polymerase Chain Reaction (PCR) were used to screen the samples for S. Typhimurium presence and its virulence genes including invA, spvB, pefA, csgA, orgA, msgA, spaN, spiA, spvC, sipB, and sefA. Results: Our study found that 48.0% of the samples tested positive for S. Typhi. S. Typhi positive culture rates varied by sample location: ATC1 (10%), MECB2 (4.0%), BNC3 (6.0%), CHA4 (2.0%), ERT5 (8.0%), TYR6 (0.0%), VMA7 (6.0%), EKA8 (0.0%), TMM9 (8.0%), ORU10 (6.0%). PCR amplification of the virulence gene showed the presence of invA, spvB, pefA and csgA in all isolates. S. Typhimurium isolates from samples TYR6, VMA7, EKA8, TMM9, and ORU10 lacked orgA and msgA genes. Other virulence genes identified include spaN (40-100%), spiA (40-100%), spvC (25-100%), sipB (20-100%), and sefA (100%). Conclusion: Our findings reveal that tiger nut juice contained Salmonella Typhimurium harboring numerous virulence genes. Therefore, to prevent the general public's health from being harmed by tiger nut drinks contaminated with Salmonella Typhimurium, relevant regulatory bodies should enforce strict hygienic practices during the production, handling, and distribution of tiger nut juice.

Background: Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder influenced by genetic and environmental factors. This study examined the specific gene variants, dopamine transporter 1 (DAT1) rs6350, dopamine receptor D3 (DRD3) rs6280, dopamine receptor D2 (DRD2) rs6277, and catechol-O-methyltransferase (COMT) rs4633, in relation to ADHD among Pakistani children by exploring the potential gene-gene and gene-environment interactions. Methods: A total of 100 cases of ADHD and 100 healthy children were recruited. The tetra-primer amplification refractory mutation system (ARMS) assays were designed for genotyping the selected variants in both groups, and their association with ADHD was determined in different genetic models. Gene-gene and gene-environmental interactions were determined by the multifactor dimensionality reduction (MDR) method. Results: The DAT1 rs6350 SNV AA genotype showed a significantly increased risk for ADHD in the codominant and recessive models. Conversely, the AG genotype demonstrated a protective factor for ADHD in the codominant and overdominant models. The DRD3 rs6280 T allele exhibited a decreased risk for ADHD, and the TT genotype showed a reduced risk in the recessive and log-additive models. No association between the DRD2 rs6277 and COMT rs4633 SNVs with ADHD was found in our population. The MDR analysis of the best three-fold interaction model showed redundancy between DAT1 rs6350 and DRD3 rs6280; however, the risk was increased with the gender variable, which showed a weak synergistic interaction with these SNVs. Conclusion: Genes associated with dopaminergic neurotransmission may contribute to the occurrence of ADHD. Furthermore, gene-gene and gene-environmental interactions may increase ADHD susceptibility.

Soybean (Glycine max [L.] Merr) plays a crucial role in the advancement of agriculture in Kazakhstan, serving as a promising food crop and feed source. The primary challenge in boosting soybean production in Northern Kazakhstan lies in the absence of soybean cultivars suited to the region's conditions. As such, the foremost focus of breeding initiatives should be on creating soybean varieties that possess both early maturity and satisfactory yield potential. The objective of this research was to assess the impact of maturity time (MT) on both the yield formation and the adaptive characteristics of soybean varieties from different origins. This evaluation was conducted by analyzing the outcomes of their testing under diverse cultivation conditions in the northern region of Kazakhstan. The soybean cultivars that were examined, originating from various sources, were classified into three primary groups. These groups varied in terms of their growing season duration as well as their yield levels. The way the alleles of the E1–E4 flowering genes were spread out in the identified clusters showed that for soybean varieties where recessive alleles of the E1–E4 genes build up, the growing season usually shorter. Cultivars of Chinese, Russian, and domestic selections isolated as a result of the research were good initial material for use in local breeding programs. Within the framework of the clusters, an environmental assessment of soybean accessions was carried out, which made it possible to determine their degree of plasticity and, in general, their adaptive potential in the conditions of Northern Kazakhstan. The best cultivars were the Chinese selection ‘Dongnong 63’ and the Russian selection ‘SIBNIIK 315’. Hence, the present study successfully discovered soybean cultivars that possess exceptional adaptability and flexibility. These cultivars hold significant potential for cultivation and practical use in the specific environmental circumstances of northern Kazakhstan.

Chronic insomnia (CI) is a complex disease involving multiple factors including genetics, gut microbiota, and brain structure and function. However, there lacks a unified framework to elucidate how these factors interact in CI. By combining data of clinical assessment, sleep behavior recording, cognitive test, multimodal MRI (structural, functional, and perfusion), gene, and gut microbiota, this study demonstrated that enhanced cerebral blood flow (CBF) similarities of the somatomotor network (SMN) acted as a key mediator to link multiple factors in CI. Specifically, we first demonstrated that only CBF but not morphological or functional networks exhibited alterations in patients with CI, characterized by increases within the SMN and between the SMN and higher-order associative networks. Moreover, these findings were highly reproducible and the CBF similarity method was test-retest reliable. Further, we showed that transcriptional profiles explained 60.4 % variance of the pattern of the increased CBF similarities with the most correlated genes enriched in regulation of cellular and protein localization and material transport, and gut microbiota explained 69.7 % inter-individual variance in the increased CBF similarities with the most contributions from Negativicutes and Lactobacillales. Finally, we found that the increased CBF similarities were correlated with clinical variables, accounted for sleep behaviors and cognitive deficits, and contributed the most to the patient-control classification (accuracy = 84.4 %). Altogether, our findings have important implications for understanding the neuropathology of CI and may inform ways of developing new therapeutic strategies for the disease.

Background: Mitophagy is the selective degradation of mitochondria by autophagy. It becomes increasingly clear that mitophagy pathways are important for cancer cells to adapt to their high-energy needs. However, which genes associated with mitophagy could be used to prognosis cancer is unknown. Methods: We created a clinical prognostic model using mitophagy-related genes (MRGs) in lung adenocarcinoma (LUAD) patients for the first time, and we employed bioinformatics methods to search for biomarkers that affect the progression and prognosis of LUAD. Transcriptome data for LUAD were obtained from The Cancer Genome Atlas (TCGA) database, and additional expression data from LUAD patients were sourced from the Gene Expression Omnibus (GEO) database. Furthermore, 25 complete MRGs were identified based on annotations from the MSigDB database. Results: A comparison of the mitophagy scores between the groups with high and low scores was done using receiver operating characteristic (ROC) curves, which also revealed the differential gene expression patterns between the two groups. Using Kaplan-Meier analysis, two prognostic MRGs from the groups with high and low mitophagy scores were identified: TOMM40 and VDAC1. Using univariate and multivariate Cox regression, the relationship between the expression levels of these two genes and prognostic clinical features of LUAD was examined further.The prognosis of LUAD patients was shown to be significantly correlated (P

The relationship between brain entropy (BEN) and early brain development has been established through animal studies. However, it remains unclear whether the BEN can be used to identify age-dependent functional changes in human neonatal brains and the genetic underpinning of the new neuroimaging marker remains to be elucidated. In this study, we analyzed resting-state fMRI data from the Developing Human Connectome Project, including 280 infants who were scanned at 37.5–43.5 weeks postmenstrual age. The BEN maps were calculated for each subject, and a voxel-wise analysis was conducted using a general linear model to examine the effects of age, sex, and preterm birth on BEN. Additionally, we evaluated the correlation between regional BEN and gene expression levels. Our results demonstrated that the BEN in the sensorimotor-auditory and association cortices, along the ‘S-A’ axis, was significantly positively correlated with postnatal age (PNA), and negatively correlated with gestational age (GA), respectively. Meanwhile, the BEN in the right rolandic operculum correlated significantly with both GA and PNA. Preterm-born infants exhibited increased BEN values in widespread cortical areas, particularly in the visual-motor cortex, when compared to term-born infants. Moreover, we identified five BEN-related genes (DNAJC12, FIG4, STX12, CETN2, and IRF2BP2), which were involved in protein folding, synaptic vesicle transportation and cell division. These findings suggest that the fMRI-based BEN can serve as an indicator of age-dependent brain functional development in human neonates, which may be influenced by specific genes.

Pearl millet (Pennisetum glaucum, also known as Cenchrus americanus) is a cereal crop that has a C4 photosynthesis system and that can grow and develop seeds even under stressed conditions including drought-stressed, high temperature-stressed and nutrient-poor conditions. In previous studies, transcriptomes of pearl millet were studied by RNA sequencing (RNA-Seq) to understand mechanisms regulating its development and tolerance to such stressed conditions. Here, RNA-Seq reads from 565 pearl millet samples from 25 projects in the NCBI (National Center for Biotechnology Information) BioProject database were collected and mapped to the pearl millet reference genome to obtain read counts and transcripts per million (TPM) for each pearl millet gene. The count and TPM data for all the 565 samples as well as the attributes of those samples and projects were deposited in the figshare repository (https://doi.org/10.6084/m9.figshare.24902100).

Objective Lung adenocarcinoma poses a major global health challenge and is a leading cause of cancer-related deaths worldwide. This study is a review of three molecular biomarkers screened by machine learning that are not only important in the occurrence and progression of lung adenocarcinoma but also have the potential to serve as biomarkers for clinical diagnosis, prognosis evaluation and treatment guidance. Methods Differentially expressed genes (DEGs) were identified using comprehensive GSE1987 and GSE18842 gene expression databases. A comprehensive bioinformatics analysis of these DEGs was conducted to explore enriched functions and pathways, relative expression levels, and interaction networks. Random Forest and LASSO regression analysis techniques were used to identify the three most significant target genes. The TCGA database and quantitative polymerase chain reaction (qPCR) experiments were used to verify the expression levels and receiver operating characteristic (ROC) curves of these three target genes. Furthermore, immune invasiveness, pan-cancer, and mRNA-miRNA interaction network analyses were performed. Results Eighty-nine genes showed increased expression and 190 genes showed decreased expression. Notably, the upregulated DEGs were predominantly associated with organelle fission and nuclear division, whereas the downregulated DEGs were mainly associated with genitourinary system development and cell-substrate adhesion. The construction of the DEG protein-protein interaction network revealed 32 and 19 hub genes with the highest moderate values among the upregulated and downregulated genes, respectively. Using random forest and LASSO regression analyses, the hub genes were employed to identify three most significant target genes.TCGA database and qPCR experiments were used to verify the expression levels and ROC curves of these three target genes, and immunoinvasive analysis, pan-cancer analysis and mRNA-miRNA interaction network analysis were performed. Conclusion Three target genes identified by machine learning: BUB1B, CENPF, and PLK1 play key roles in LUAD development of lung adenocarcinoma.

A 33-year-old patient presented with a chief complaint of patent ductus arteriosus (PDA) persisting for over 30 years. Physical examination revealed bilateral facial angiofibromas, multiple nail fibromas, intraoral fibromas, and a ’shagreen patch’ on the left lumbar region. Genetic testing was performed using a peripheral venous blood sample, which confirmed the diagnosis of Tuberous Sclerosis Type 2 (TSC2). Subsequently, the patient underwent cardiac color Doppler ultrasound and chest computed tomography angiography, which confirmed the presence of PDA. Tuberous sclerosis complex (TSC) is associated with cardiovascular diseases. The initial clinical manifestation of TSC is usually cardiac rhabdomyoma in children, and it is rarely reported in adults with PDA. In this case, the patient was diagnosed with PDA when he was young, and the genetic test showed heterozygous variation of TSC2 gene. The purpose of this article is to explore the correlation between TSC and PDA at the gene level through literature review.

MDM2-SNP309 (rs2279744), a common genetic modifier of cancer incidence in Li-Fraumeni syndrome, modifies risk, age of onset, or prognosis in a variety of cancers. Melanoma incidence and outcomes vary by sex, and although SNP309 exerts an effect on the estrogen receptor, no consensus exists on its effect on melanoma. MDM2 and MDM4 restrain p53-mediated tumor suppression, independently or together. We investigated SNP309, an a priori MDM4-rs4245739, and two coinherited variants, in a population-based cohort of 3663 primary incident melanomas. Per-allele and per-haplotype (MDM2_SNP309-SNP285; MDM4_rs4245739-rs1563828) odds ratios (OR) for multiple-melanoma were estimated with logistic regression models. Hazard ratios (HR) for melanoma death were estimated with Cox proportional hazards models. In analyses adjusted for covariates, females carrying MDM4-rs4245739*C were more likely to develop multiple melanomas (ORper-allele = 1.25, 95% CI 1.03-1.51, and Ptrend = 0.03), while MDM2-rs2279744*G was inversely associated with melanoma-death (HRper-allele = 0.63, 95% CI 0.42-0.95, and Ptrend = 0.03). We identified 16 coinherited expression quantitative loci that control the expression of MDM2, MDM4, and other genes in the skin, brain, and lungs. Our results suggest that MDM4/MDM2 variants are associated with the development of subsequent primaries and with the death of melanoma in a sex-dependent manner. Further investigations of the complex MDM2/MDM4 motif, and its contribution to the tumor microenvironment and observed associations, are warranted.

Background Neurometabolic diseases are the results of genetic changes that lead to an imbalance in energy utilization and metabolism. Aim Our aim was to explore the update in treatment and diagnosis of neurometabolic disease. Methods PubMed, Scopus, Google scholar, and the web of science were searched for studies reported in the last 20 years (1997–30/10/2020). The data was searched and archived by keywords like “Neurometabolic”, “neurogenesis”, and “role of neuro-degeneration in neurometabolic disease” without narrowing or limiting search items. Only abstracts of searched publications were reviewed. A total of 389 publications were found in the initial research, in which 62 publications were considered for the study and the remaining were excluded because of their specificity to the subject. Study update The neurometabolic disease affects one in 500 newborns, causing a major burden of illness and infant mortality. However, the cause of the disease is unclear in up to 50% of neurological-like cases. Thus, we ask why are they referred to as neurometabolic disorders (NMD), despite extensive genetic and biochemistry investigations? Treatment is possible for some metabolic diseases. For instance, the devastating neurological effects of phenylketonuria have been recognized for many years. Except for some notable exceptions, treatment remains largely unsatisfactory. Therefore, research efforts concentrate on corrective genetic approaches applicable after early detection by newborn screening or before fertilization. We considered recent studies on treating neurometabolic diseases. We focused on the most common neurometabolic diseases and the associated clinical advancements in their therapy.

Background: The problem, poultry is one of the most prominent sources of Campylobacter jejuni, which is also a major means of transmission to people. Campylobacter jejuni contamination in chicken meat comes from chicken faeces because it naturally exists in the intestine of chickens. Aim: The purpose of this study is to identify the antibiotic resistance genes and patterns of Campylobacter jejuni, which was found in hens in Pasuruan, Indonesia. Methods: The samples used in this study were 200 contents of the small intestine of broiler chickens from 40 farms in Pasuruan Regency. Enriched sample was streaked on the selective media of modified charcoal cefoperazone deoxycholate (mCCDA) containing the CCDA selective supplement. Antimicrobial susceptibility test utilizing the Kirby-Bauer Diffusion Test method in accordance with Clinical and Laboratory Standards Institute (CLSI) standards. The Polymerase Chain Reaction (PCR) method was used to detect the hipO, gyrA, blaOXA-61, and tetO genes, hipO is a gene encoding Campylobacter jejuni strain, while gyrA is a gene encoding fluoroquinolone resistance, blaOXA-61 encodes beta-lactam resistance, tetO encodes beta-lactam resistance. Results: The findings revealed a 14% (28/200) prevalence of Campylobacter jejuni. This isolates showed high resistance to enrofloxacin (92.9%). All isolates (100%) were susceptible to amoxicillin-clavulanate. PCR results showed that all Campylobacter jejuni isolates (100%) detected the gyrA gene, 96.7% detected the blaOXA-61 gene, and 50% detected the tetO gene. Conclusion: The findings of antimicrobial resistance resistance in high level from the small intestine of broiler chickens illustrates the potential threat to human health. To lessen the effects now and in the future, coordinated and suitable action is needed, as well as steps to guarantee the poultry industry's economic survival and public health insurance. [Open Vet J 2024; 14(3.000): 759-768]

The apple tree (Malus domestica Borkh.) is the most important perennial fruit crop widely cultivated and used in agricultural production around the world. The problem of extending shelf life and sale of fresh fruit crops is of great importance due to the year-round active use and demand among the population. To create commercially attractive, popular and valuable apple varieties of Russian breeding with genetically determined long-term keeping quality of fruits, the role of pre-breeding based on the study and mobilization of available biological resources including the use of DNA marking to identify the most valuable genotypes for the desired priority trait, is significant. The purpose of the study was to study allelic polymorphism of Md-A CS1 gene in 37 apple accessions to identify sources of long-term storage of fruits for further breeding use. The research was carried out in the Center for Collective Use Research and Breeding Collection of Genetic Resources of Horticultural Crops using generally accepted programs and methods for variety study and selection of apple trees. The methods of DNA analysis were applied in the work. For DNA extraction, the CTAB method modified at North Caucasian Federal Scientific Center of Horticulture was used. According to DNA marking data, carriers of homozygous allelic combination (Md-ACS12/2) were identified among the studied apple accessions of Russian breeding: Persikovoe, Georgiy, Azimut, hybrid 17/1647 (Champion Modi), and foreign varieties: Smeralda, Fuji Mimo. The selected varieties and forms are promising in creating Russian genetic resources with improved commercial fruit traits including genetically determined increase in length of storage period. They can be used in breeding using DNA-marker selection for several target genes of quality, keeping quality and density of fruit pulp.