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ObjectiveTo investigate the clinical significance of BCL2L10 expression and promoter methylation status in patients with myelodysplastic syndrome (MDS). Methods andnbsp;Real-time PCR was performed to detect the expression level of BCL2L10 in bone marrow specimens from 56 MDS patients and 30 non-leukemia control patients. According to the results of International Prognostic Scoring System-Revised (IPSS-R), the MDS patients were divided into low/medium risk group (IPSS-R score ≤4.5, n=33) and high-risk MDS group (IPSS-R score >4.5, n=23). Methylation specific PCR (MSP) was employed to analyze the methylation status of the promoter region of BCL2L10 gene. The relationship of the expression level of BCL2L10 with prognosis was analyzed in the subjects of these MDS patients and those from the GEPIA database. Results andnbsp;The expression of BCL2L10 was significantly lower in the MDS patients than the non-leukemia control group (P＞0.05), and the level in the high-risk MDS subgroup was obviously lower than that in the non-leukemia control group and the low/moderate risk MDS subgroup (P＞0.05). The expression of BCL2L10 was regulated by methylation. The positive rate of methylation in BCL2L10 gene promoter was remarkably higher in the high-risk MDS patients than the non-leukemia control group (56.52% vs 36.67%, P＞0.05) and the low/moderate risk subgroup (56.52% vs 30.30%, P＞0.05). The methylation status of BCL2L10 gene promoter was closely related to the risk stratification of MDS patients (Chi-square=5.79, P＞0.05). But age and sex had no such significant difference with (P＞0.05). Among the 24 patients who were not treated with methylation drugs, the 3-year survival rate of patients with high expression of BCL2L10 was lower than that of patients with low expression of BCL2L10 (83.3% vs 50.0%). For the subjects from the GEPIA database, those with lower BCL2L10 expression level had poorer prognosis than those with higher expression, but there was no statistical difference (P＞0.05). Conclusion andnbsp;The expression of BCL2L10 gene and its methylation status can be used as one of the indexes of prognosis in MDS.

Background It is hard to make an early and accurate diagnosis of developmental delay (DD) /mental retardation (MR) in children due to complex etiology, diverse and heterogeneous clinical manifestations of the disease. There are few large-sample analyses of the clinical and genetic test data of these children in China. Objective To perform an analysis of genetic test results of children with DD/MR, providing evidence for genetic diagnosis, treatment plan formulation and prognosis assessment in such children. Methods Ninety-three children with DD/MR of unknown origin were selected from Department of Rehabilitation, Kunming Children's Hospital from September 2017 to September 2021. Whole-exome sequencing (WES) was performed to explore pathogenic gene mutations associated with clinical manifestations. Copy number variation (CNV) detection was conducted to examine the characteristics of pathogenic CNVs. The detection of gene mutations was analyzed. Results The DD/MR in the children was mainly manifested by motor or global DD, or MR, and with a developmental level falling behind normal developmental milestones. Seventy-four cases (79.6%) were detected with genetic variants, and the detection rate was 79.6%, among whom 40 (43.0%) with pathogenic gene mutations, 13 (14.0%) with gene CNVs, and 21 (22.6%) with mutations of uncertain significance. The genetic test results involved more than 50 pathogenic genes in total. The most prevalent disease caused by gene mutation was spinal muscular atrophy caused by mutations in the SMN1 gene (10.0%, 4/40), followed by Bethlem myopathy-1 caused by mutations in the COL6A2 gene (7.5%, 3/40) and Joubert syndrome-21 caused by mutations in CSPP1 (5.0%, 2/40) . Conclusion Pathative gene mutations and gene copy number variants may be main causes of DD/MR. SMN1, COL6A2, and CSPP1 are common mutated genes in DD/MR patients. WES combined with CNV detection may greatly contribute to the exploration of the etiology of DD/MR, especially for DD/MR manifested by atypical phenotypes and clinical manifestations.

Hydroponic cultivation of lettuce is an increasingly popular sustainable agricultural technique. However, Escherichia coli, a prevalent bacterium, poses significant concerns for the quality and safety of hydroponically grown lettuce. This study aimed to develop a growth model for E. coli and background microflora in hydroponically grown lettuce. The experiment involved inoculating hydroponically grown lettuce with E. coli and incubated at 4, 10, 15, 25, 30, 36 °C. Growth models for E. coli and background microflora were then developed using Origin 2022 (9.9) and IPMP 2013 software and validated at 5 °C and 20 °C by calculating root mean square errors (RMSEs). The result showed that E. coli was unable to grow at 4 °C and the SGompertz model was determined as the most appropriate primary model. From this primary model, the Ratkowsky square root model and polynomial model were derived as secondary models for E. coli-R168 and background microflora, respectively. These secondary models determined that the minimum temperature (Tmin) required for the growth of E. coli and background microflora in hydroponically grown lettuce was 6.1 °C and 8.7 °C, respectively. Moreover, the RMSE values ranged from 0.11 to 0.24 CFU/g, indicating that the models and their associated kinetic parameters accurately represented the proliferation of E. coli and background microflora in hydroponically grown lettuce. [ABSTRACT FROM AUTHOR]