Non-coding small RNA mainly includes microRNA, small interfering RNA and RNA interacting with PIWI protein.Studies have shown that non-coding small RNA plays an increasingly important role in the epigenetic regulation.Non-coding small RNA is involved in the regulation of gene expression by gene transcription, post-transcription and mRNA translation.Non-coding small RNA is closely related to many human diseases, especially the diagnosis, treatment and prognosis of melanoma.

Objective To investigate whether XRCC1 was associated with the occurrence of leukemia through the comparison of XRCC1 gene′s polymorphism and hypermethylation between leukemia patients and healthy people .Methods Restriction fragment length polymorphism polymerase chain reaction (PCR‐RFLP) and methylation specific polymerase chain reaction(MSP) were used to detect the polymorphism and promoter region′s methylation of XRCC1 gene in 150 patients with leukemia(patients group) and 150 healthy persons (control group) .Results In different types of leukemia patients ,the genotype of XRCC1 gene loci rs1799782 , rs25487 and rs25489 loci changed in different degrees .The positive rate of XRCC1 gene methylation in different subgroups of pa‐tients group were not statistically significantly different from that of control group(P>0 .05) .Conclusion Genotype distribution and allele frequency and leukemia susceptible have some correlation ,but hypermethylation phenomenon may not exist in XRCC1 gene in leukemia .

Spinal muscular atrophy (SMA) is a group of neuromuscular disorders, caused by degeneration of the motor neurons in the anterior horn of the spinal cord, with prevalence of about 1 in 6000 to 1 in 10000 in newborn. The gene carrying frequency is about 1 in 40 to 1 in 50 all over the world. SMA is one of the most common autosomal recessive diseases causing infant death. SMA mainly refers to SMN1 dependent caused by SMN1 gene mutations. Noninvasiveness and specificity make genetic testing a recommended method for diagnosis of SMA. In addition to conventional methods such as neural nutrition, muscle exercise, etc., there is no specific treatment for SMA up to now. Nevertheless, HDAC inhibitors deserve attention as they are the only drugs completed Phase Ⅲ clinical trials to date. Furthermore, other ways as small-molecule SMN enhancers, induced pluripotent stem cell (iPSC), antisense oligonucleotides to correct SMN2 splicing, etc, were still on the way of in vitro stage at present.

Objective To explore the relationship between activation-induced cytidine deaminase (AID) expression and melanoma invasion, metastasis and prognosis, and to evaluate the clinical significance of AID. Methods An immunohistochemical study was conducted to detect the expression of AID in paraffin-embedded tissue sections from 80 cases of melanoma and 23 cases of pigmented nevus. The relationship between the expression of AID and clinicopathological and biological features of melanoma was analyzed. Results The expression rate of AID was significantly higher in melanoma than in pigmented nevus tissue specimens(53.75%(43/80)vs. 13.04%(3/23), P<0.05). AID expression was closely correlated with lymphatic metastasis, Clark grade, depth of invasion and prognosis of melanoma (all P<0.05), but was of no significant difference among patients of different age, gender or nationalities(all P > 0.05). Of 19 melanoma specimens with BRAF mutations, 17 expressed AID, including all the 15 melanoma specimens with the BRAFV600E mutation. Conclusions AID may induce BRAF mutations in melanoma, participate in melanoma invasion and metastasis, and be correlated with melanoma prognosis.

Objective To detect NRAS gene mutations in patients with acral melanoma, and to analyze their relationship with the prognosis of acral melanoma. Methods Clinical and pathological data were collected from 55 patients with pathologically diagnosed acral melanoma. DNA was extracted from paraffin?embedded specimens from lesions of the 55 patients and 15 patients with nevus. PCR and direct DNA sequencing were performed to detect NRAS gene mutations. Univariate and multivariate analyses were performed using the Cox′s proportional hazards regression model. Results Of the 55 patients, 6(10.9%)carried the Q61R mutation in codon 61 of the NRAS gene. No mutations were found in exon 1 or 2 of the NRAS gene in any of these paraffin?embedded specimens, and none of the pigmented nevus specimens harbored NRAS gene mutations. Of the 6 patients carrying NRAS gene mutations, 4 had lymph node metastasis. Multivariate Cox regression analysis showed that independent factors of poor prognosis included advanced clinical stage(RR = 2.54, 95% CI: 1.062- 6.066, P < 0.05), not receiving surgical resection(RR = 2.98, 95% CI:1.316- 3.525, P < 0.05), and carrying NRAS gene mutations (RR = 2.73, 95% CI: 0.932- 3.257, P < 0.05). Conclusions NRAS gene mutations may be associated with lymph node metastasis in patients with acral melanoma. The prognosis of acral melanoma may be associated with clinical staging, treatment strategies and NRAS gene mutations. Additionally, NRAS gene mutations may serve as a new index for predicting prognosis of acral melanoma.

Objective To study the application of Internet of Things, wireless health monitor all-in-one machine, health management platform, energy consumption monitoring in employee health management. Methods Enrollment criteria were set based on employees' health examination data, 126 employees were enrolled in this study voluntarily, 97 were male, and 29 were female. The age was from 26 to 59 years, the average age was 43.7 ± 6.1 years. Using motion energy consumption monitor, wireless health monitor all-in-one machine and health management platform, employee's exercise, body weight, body mass index, fat and muscle mass, systolic blood pressure, diastolic blood pressure, cholesterol, triglyceride, low density lipoprotein cholesterol (LDL-C), high density lipoprotein cholesterol (HDL-C), uric acid, fasting blood glucose etc. were monitored. Data were collected for before and after 3 months intensive intervention. Results After 3 month of intensive intervention, body weight ( (74.90 ± 9.95) kg, (71.77 ± 9.57) kg), body mass index ((25.94 ± 2.65) kg/m2, (24.96 ± 2.55) kg/m2), fat mass ((21.30 ± 4.31) kg, (18.89 ± 4.23) kg), muscle mass ((49.78 ± 7.12) kg, (49.07 ± 6.97) kg), systolic pressure ((129.72 ± 11.16) mmHg(1 mmHg=0.133 kPa), (118.32 ± 10.50) mmHg), diastolic blood pressure ((89.10 ± 8.28) mmHg, (76.94 ± 7.57) mmHg), cholesterol ((5.16±0.85) mmol/L, (4.96±0.90) mmol/L), triglyceride ((1.72±0.92) mmol/L, (1.43±0.64) mmol/L), uric acid ((353.00 ± 85.33) μmol/L, (345.00 ± 73.01) μmol/L) were decreased with statistical significance (t=10.92, 11.03, 6.75, 5.56, 4.23, 3.99, 4.26, 3.46, 1.98, P<0.05); and the value of HDL-C ((1.20 ± 0.24) mmol/L, (1.28 ± 0.25) mmol/L) increased significantly (t=-4.62, P<0.05); the value of LDL-C((2.54 ± 0.52) mmol/L, (2.66±0.58) mmol/L) increased and fast blood glucose ((5.05±0.73) mmol/L, (5.02±0.79) mmol/L) decreased, but there was no significant difference(t=-3.03, 0.14 respectively, P>0.05). Conclusion Health Internet of Things can help employees to develop scientific exercise habits , to correct unhealthy diet habits, and improve health. It will provide a new option for enterprise employee health management and can be recommended for health management programs by large enterprises with domestic and abroad projects.

Objective To detect the expression of human telomerase reverse transcriptase (hTERT) mRNA in the melanoma, and to analyze the relationship between the expression and subtypes and clinicopathological features of melanoma. Methods Expression of hTERT mRNA was detected by real-time quantitative PCR in 64 cases of melanoma and 30 cases of nevus. SPSS 17.0 software was used to analyze the relationship between hTERT mRNA expression and clinical pathological features of melanoma. Results The relative expression of hTERT mRNA in melanoma tissues was higher than that in nevus tissues [(52.43±5.42) vs (21.38±3.73), t= 4.72, P= 0.000]. The expression of hTERT mRNA in melanoma had no significant correlation with age, gender, ethnicity (all P> 0.05), but had relationship with subtypes, lymph node metastasis, Clark classification (all P< 0.05). The expression of hTERT mRNA in mucosal melanoma was significantly higher than that of acral and non-acral melanoma (t= 7.71, P= 0.001), while the expression of acral and non-acral melanoma had no difference (P> 0.05). Conclusions The expression of hTERT mRNA in melanoma is high, especially in mucosal melanoma. hTERT may play an important role in the occurrence and development of melanoma.

Cation transporters play important roles in modulating the concentration of intracellular metal ions. The vacuole is an important storage organelle for many ions. Cation (Ca+)/H+ antiporters (CAXs) located at vacuolar membrane are mainly involved in the Ca2+ flux into the vacuole, and appear to be capable of transporting various divalent cations to some degree. Several CAX genes have been isolated and characterized from various plants in recent years. Four domains of plant CAXs have been identified: NRR regulates Ca2+ transport by a mechanism of N-terminal autoinhibition; Ca domain and C domain confer Ca2+ and Mn2+ specificity among CAX transporters, respectively; D domain plays a part in the regulation of cytosolic pH. AtCAXs identified in Arabidopsis thaliana are involved in the growth, development and stress adaption of plant. AtCAX3 is the mainly Ca2+/H+ transporter in response to salt stress; AtCAX2 and AtCAX4 participate in transportation and detoxicification of heavy metal ions (Cd2+, Zn2+, and Mn2+) in cells under heavy metal stress, and impact root/shoot Cd partitioning in plant. These suggest that CAX genes may be useful for nutritional enhancement of plants, and for increasing phytoremediation potential. Here, the classification, structure and function of CAXs in plants are reviewed.
Antiporters ; chemistry ; physiology ; Arabidopsis ; chemistry ; Arabidopsis Proteins ; chemistry ; physiology ; Calcium ; metabolism ; Cation Transport Proteins ; chemistry ; physiology ; Membrane Proteins ; physiology ; Metals, Heavy ; metabolism ; Plant Physiological Phenomena ; Plant Proteins ; physiology ; Plants ; chemistry ; Proton Pumps ; chemistry ; physiology ; Vacuoles ; metabolism ; physiology

OBJECTIVETo explore the molecular mechanism for a family with hereditary X-linked spondyloepiphysealdysplasia tarda (SEDT).

METHODSFor 3 affected males and 2 obligate carrier females from the family, exons 3 to 6 of SEDL gene were amplified with PCR and sequenced.

RESULTSIn the three patients, a deletional mutation (c.267_271delAAGAC) in exon 5 has been identified, which has caused frameshift of the protein product.

CONCLUSIONc.267_271delAAGAC frameshift mutation of the exon 5 of the SEDL gene probably underlies the disease in this family.

Base Sequence ; Child ; China ; DNA Mutational Analysis ; Exons ; genetics ; Family Health ; Female ; Frameshift Mutation ; Genetic Diseases, X-Linked ; genetics ; Genetic Predisposition to Disease ; genetics ; Humans ; Male ; Membrane Transport Proteins ; genetics ; Osteochondrodysplasias ; genetics ; Pedigree ; Sequence Deletion ; Transcription Factors ; genetics

Objective:To analyze the risk factors for early ostomy complications after Miles surgery for rectal cancer and construct a nomogram model.Methods:A case-control study method was used to collect clinical data of 205 patients who underwent Miles surgery for rectal cancer at Xinxiang Central Hospital from January 2019 to January 2022. Patients were divided into early ostomy complications group and no early ostomy complications group based on whether early ostomy complications occurred. Single factor analysis and multivariate Logistic regression analysis were used to determine the influencing factors for early ostomy complications after Miles surgery for rectal cancer. R language was used to construct a nomogram model for early ostomy complications after Miles surgery for rectal cancer. The area under the receiver operating characteristic curve (ROC) was used to evaluate the predictive performance of the nomogram model. By drawing a calibration map for consistency testing, the Hosmer-Lemeshow test was used to determine the goodness of fit of the model. P>0.05 indicated a good fit of the model. R software was used to randomly select 30% of cases as validation groups for internal validation. Results:This study included a total of 205 patients, including 115 males and 90 females. Among them, 37 had early ostomy complications, with an incidence of 18.0%. The results of multivariate Logistic regression analysis showed that failure to receive rapid surgical rehabilitation nursing [ OR=2.779, 95% CI (1.144, 6.750) ], age ≥65 years old [ OR=2.862, 95% CI (1.186, 6.906) ], albumin<35 g/L [ OR=3.414, 95% CI (1.373, 8.488) ], and failure to locate the preoperative ostomy position [ OR=4.846, 95% CI (1.488, 15.776) ] were risk factors for early ostomy complications after Miles surgery for rectal cancer, and the differences were statistically significant ( P<0.05) . Based on this result, a prediction model was constructed, with an area under the ROC curve of 0.801 [95% CI (0.713, 0.868) ]. After internal validation, the area under the ROC curve of the validation group was 0.807 [95% CI (0.641, 0.973) ]. The calibration curves of the modeling group ( P=0.980) and the validation group ( P=0.981) showed a good coincidence between the predicted results and the actual results. Conclusions:Failure to receive rapid surgical rehabilitation nursing, age ≥65 years old, albumin<35 g/L, and failure to locate the preoperative ostomy position are risk factors for early ostomy complications after Miles surgery for rectal cancer. This study constructs a nomogram model based on the results of Logistic regression analysis, which can effectively predict the probability of early ostomy complications after Miles surgery for rectal cancer. For high-risk patients, individualized intervention should be carried out as soon as possible to reduce the incidence of ostomy complications and improve the patient's quality of life.