The telomere structure in the cell nucleus is crucial for maintaining the stability and functions of chromosomes.Telomerase is a ribonucleoprotein reverse transcriptase,which catalyzes the elongation of telomeres using its own RNA as a template,thereby counteracting the shortening of telomeres caused by chromosome replication and cell division.Due to its overexpression in over 85％of malignant tumor cells,telomerase has emerged as a highly promising biomarker and a novel target for cancer therapy.In recent years,given the importance of precise quantification of telomerase activity in guiding medical diagnosis and treatment strategies,researchers have developed various high-performance telomerase detection techniques.Among these,electrochemical biosensing technique has cause much attention due to its high sensitivity,operational convenience,rapid response,and ease of miniaturization.This paper focused on the latest advances in electrochemical sensing technique for detection of telomerase activity,aiming to provide inspiration for designing novel telomerase activity detection strategies by elucidating three unique properties of telomerase primer extension products.

Gender recognition based on the analysis of fingerprint residue can assist investigators in narrowing down the scope of investigation and play an important role in the field of criminal investigation.This study established a quantitative analysis method for lipid substances in fingerprints based on gas chromatography-mass spectrometry(GC-MS).Fatty acids in fingerprints were methylated using sulfuric acid methanol derivatization reagent(7%,V/V),the extraction reagent was dichloromethane-methanol(1∶1,V/V)solution,the reaction temperature was 70℃and the heating time was 45 min.Quantitative analysis of the relative content of 23 kinds of fatty acids and squalene in fingerprints residue by different genders was conducted,and orthogonal partial least squares-discriminant analysis(OPLS-DA)was used to reduce the dimensionality of the quantitative results.A total of 13 kinds of components in the fingerprints were selected to maximize the difference in relative content between male and female fingerprints.Three machine learning models,including binary logistic regression(BLR),support vector machine(SVM)and random forest(RF),were further used as feature variables to classify the gender of fingerprints.The classification performance of each model was compared through five indicators,and it was found that the most suitable model for binary classification of fingerprint gender was SVM model.The results showed that the SVM fingerprint residual gender binary classification model established based on the relative content data of 13 kinds of lipid substances in fingerprints achieved a classification accuracy of 90%and an area under the receiver operating characteristic curve(AUC)value of 0.98.This study provided a new research method for detecting lipid components in fingerprints and a methodological basis for gender recognition of fingerprints.

Forensic medicine has been designated as a first-level discipline,presenting new opportunities and challenges for the development of forensic medicine.Since the 1980s,the establishment of foren-sic medicine discipline and the cultivation of high-level forensic talents have become hot topics in the development of forensic medicine in China.Since the 13th Five-Year Plan,the forensic team of Shanxi Medical University has been aiming at the forefront,proposing the development goals of"Five First-class"and the discipline development path"Six Major Achievements".It has selected benchmark disci-plines,identified gaps in disciplinary development,unified thoughts,formulated completion timelines,concentrated superior resources,assigned tasks to individuals,and created an"Organized Fill-in-the-Blank Format"forensic medicine discipline construction model with the characteristics of the new era.The construction model of forensic medicine has achieved good results in the goals,discipline frame-work,scientific research,talent cultivation,discipline team and platform construction,forming a rela-tively complete discipline construction and management system,and accumulating valuable experience for the construction of first-level discipline and high-level talent cultivation of forensic medicine.

Objective:To investigate the role and potential mechanism of m 6A demethylase ALKBH5 in esophageal squamous cell carcinoma (ESCC) . Methods:Real time fluorogenic quantitative PCR and Western blotting were used to detect ALKBH5 expression in normal esophageal epithelial cells (Het-1A) and ESCC cell lines (Eca109, KYSE30, KYSE150, KYSE410). Transient cell lines with overexpression/knockdown of ALKBH5 (siRNA transfection was divided into si-ALKBH5-1 group and si-ALKBH5-2 group) and control cell lines were constructed. The effects of ALKBH5 on ESCC cell proliferation, migration and apoptosis were studied by MTT assay, cell scratch assay and cell apoptosis assay respectively. The differentially expressed gene was screened by the intersection of RNA sequencing (RNA-seq) and methylated RNA immunoprecipitation sequencing (MeRIP-seq) techniques, and the effect of ALKBH5 on the gene expression was detected by RT-qPCR.Results:Real time fluorogenic quantitative PCR results showed that, the relative expression levels of ALKBH5 RNA in Het-1A, Eca109, KYSE30, KYSE150 and KYSE410 were 1.03±0.28, 0.46±0.02, 0.23±0.10, 0.04±0.02, 0.05±0.00, respectively, with a statistically significant difference ( F=444.60, P<0.001). Western blotting showed that, the relative expression levels of ALKBH5 protein in Het-1A, Eca109, KYSE30, KYSE150 and KYSE410 were 1.14±0.03, 0.88±0.04, 0.66±0.01, 0.69±0.01, 0.95±0.01, respectively, with a statistically significant difference ( F=139.90, P<0.001). MTT test showed that the absorbance ( A) values of KYSE30 control group and ALKBH5 overexpression group were 0.86±0.01 and 1.25±0.01 after 72 hours, respectively, with a statistically significant difference ( t=46.93, P<0.001). The A values of KYSE150 control group and ALKBH5 overexpression group were 1.00±0.03 and 1.43±0.02 after 72 hours, respectively, with a statistically significant difference ( t=16.80, P<0.001). The A values of KYSE30 control group, si-ALKBH5-1 group and si-ALKBH5-2 group were 0.98±0.01, 0.85±0.02 and 0.80±0.09 after 96 hours, respectively, with a statistically significant difference ( F=72.97, P<0.001). The A values of KYSE30 control group were higher than those of si-ALKBH5-1 and si-ALKBH5-2 groups (both P<0.001). The A values of KYSE410 control group, si-ALKBH5-1 group and si-ALKBH5-2 group were 1.28±0.02, 1.15±0.02 and 1.08±0.05 after 72 hours, respectively, with a statistically significant difference ( F=16.97, P=0.003). The A values in KYSE410 control group were higher than those in si-ALKBH5-1 group and si-ALKBH5-2 group ( P=0.020; P=0.003). The cell scratch test showed that 48 hours after scratch, the migration rates of KYSE30 cells in control group and ALKBH5 overexpression group were (27.39±0.54) % and (48.89±5.12) %, respectively, with a statistically significant difference ( t=5.90, P=0.004). The migration rates of KYSE150 cells in control group and ALKBH5 overexpression group were (39.67±0.43) % and (62.20±0.60) %, respectively, with a statistically significant difference ( t=43.15, P<0.001). The migration rates of KYSE30 cells in control group, si-ALKBH5-1 group and si-ALKBH5-2 group were (25.08±1.86) %, (18.75±1.59) % and (7.67±0.52) %, respectively, with a statistically significant difference ( F=74.28, P<0.001). The migration rates of KYSE30 cells in control group were higher than those of si-ALKBH5-1 group and si-ALKBH5-2 group ( P=0.010; P<0.001). The migration rates of KYSE410 cells in control group and si-ALKBH5-1 group, si-ALKBH5-2 group were (38.70±0.41) %, (28.27±1.01) % and (19.40±0.47) %, respectively, with a statistically significant difference ( F=400.20, P<0.001). The migration rates of KYSE410 cells in control group were higher than those of si-ALKBH5-1 group and si-ALKBH5-2 group (both P<0.001). Apoptosis test showed that the apoptosis rates of KYSE30 cells in control group and ALKBH5 overexpression group were (9.59±0.88) % and (4.81±0.89) %, respectively, with a statistically significant difference ( t=6.23, P=0.006). The apoptosis rates of KYSE150 cells in control group and ALKBH5 overexpression group were (8.36±0.09) % and (6.42±0.19) %, respectively, with a statistically significant difference ( t=12.90, P<0.001). The apoptosis rates of KYSE30 cells in control group, si-ALKBH5-1 group and si-ALKBH5-2 group were (4.31±0.19) %, (5.72±0.30) % and (8.94±0.71) %, respectively, with a statistically significant difference ( F=53.46, P<0.001). The apoptosis rates in KYSE30 cells in control group were lower than those in si-ALKBH5-1 group and si-ALKBH5-2 group ( P=0.049; P<0.001). The apoptosis rates of KYSE410 control group, si-ALKBH5-1 group and si-ALKBH5-2 group were (4.45±0.36) %, (5.40±0.11) % and (6.64±0.15) %, respectively, with a statistically significant difference ( F=43.36, P<0.001). The apoptosis rates in KYSE410 cells in control group were lower than those in si-ALKBH5-1 group and si-ALKBH5-2 group ( P=0.016; P<0.001). The differentially expressed gene IGF2BP3 was screened by the intersection of RNA-seq and MeRIP-seq techniques, and the RT-qPCR results showed that, the relative expression levels of IGF2BP3 in KYSE30 were 1.01±0.10 and 1.41±0.10 in control group and ALKBH5 overexpression group, respectively, with a statistically significant difference ( t=4.06, P=0.015). The relative expression levels of IGF2BP3 in KYSE150 were 1.00±0.10 and 1.94±0.24 in control group and ALKBH5 overexpression group, respectively, with a statistically significant difference ( t=5.08, P=0.007). The relative expression levels of IGF2BP3 in KYSE410 were 1.01±0.14, 0.67±0.04 and 0.41±0.04 in control group, si-ALKBH5-1 group and si-ALKBH5-2 group, respectively, with a statistically significant difference ( F=24.36, P=0.001). The relative expression levels of IGF2BP3 in KYSE410 control group were higher than those in si-ALKBH5-1 group and si-ALKBH5-2 group ( P=0.017; P=0.001) . Conclusions:ALKBH5 is underexpressed in ESCC cell lines, but the overexpression of ALKBH5 can promote the proliferation and migration of ESCC cells and inhibit cell apoptosis, which may be related to some negative feedback regulation mechanism. IGF2BP3 may be the downstream target of ALKBH5.

OBJECTIVES: To study the clinical and genetic characteristics of children with congenital adrenal hyperplasia (CAH). METHODS: Clinical data, laboratory findings, and genetic test results of 63 children diagnosed with CAH at Henan Children's Hospital from January 2017 to December 2024 were retrospectively reviewed. RESULTS: Of the 63 patients, the mean age at the first visit was (21 ± 14) days; 29 (46%) were of male sex and 34 (54%) were of female sex. The predominant clinical manifestations were poor weight gain or weight loss (92%, 58/63), poor feeding (84%, 53/63), skin hyperpigmentation (83%, 52/63), and female external genital anomalies (100%, 34/34). Laboratory abnormalities included hyponatremia (87%, 55/63), hyperkalemia (68%, 43/63), metabolic acidosis (68%, 43/63), and markedly elevated 17-hydroxyprogesterone (92%, 58/63), testosterone (89%, 56/63), and adrenocorticotropic hormone (81%, 51/63). Among 49 patients who underwent genetic testing, CYP21A2 variants were identified in 90% (44/49), with c.293-13A/C>G (33%, 30/91) and large deletions/gene conversions (29%, 26/91) being the most frequent; STAR (8%, 4/49) and HSD3B2 (2%, 1/49) variants were also detected. Following hormone replacement therapy, electrolyte disturbances were corrected in 57 cases, with significant reductions in 17-hydroxyprogesterone, adrenocorticotropic hormone, and testosterone levels (P<0.001). CONCLUSIONS CAH presenting in neonates or young infants is characterized by electrolyte imbalance, external genital anomalies, and abnormal hormone levels. Genetic testing enables definitive subtype classification; in CYP21A2-related CAH, c.293-13A/C>G is a hotspot variant. These findings underscore the clinical value of genetic testing for early diagnosis and genetic counseling in CAH. Citation:Chinese Journal of Contemporary Pediatrics, 2025, 27(11): 1367-1372.
Humans ; Adrenal Hyperplasia, Congenital/diagnosis* ; Male ; Female ; Retrospective Studies ; Infant ; Infant, Newborn

OBJECTIVE: To analyze the efficacy and safety of decitabine-based myeloablative preconditioning regimen for allogeneic hematopoietic stem cell transplantation (allo-HSCT) in patients with acute myeloid leukemia (AML). METHODS: The clinical characteristics and efficacy of 115 AML patients who underwent allo-HSCT at the First Medical Center of Chinese PLA General Hospital from August 2018 to August 2022 were retrospectively analyzed, including 37 patients treated with decitabine conditioning regimen (decitabine group) and 78 patients without decitabine conditioning regimen (non-decitabine group). The cumulative incidence of relapse (CIR), overall survival (OS), leukemia-free survival (LFS), non-relapse mortality (NRM) and graft versus host disease (GVHD) were analyzed. RESULTS: For the patients in first complete remission (CR1) state before allo-HSCT, the 1-year relapse rates of decitabine group(22 cases) and non-decitabine group(69 cases) were 9.1% and 29.6%, respectively, the difference was statistically significant(P =0.042). The 1-year cumulative incidence of acute graft-versus-host disease (aGVHD) in decitabine group and non-decitabine group was 62.2% and 70.5%, respectively, and the 1-year cumulative incidence of chronic inhibitor-versus-host disease (cGVHD) was 18.9% and 14.1%, respectively, there were no significant differences in the incidence of aGVHD and cGVHD between the two groups (P >0.05). Of the 115 patients, there were no significantly differences in the 1-year CIR(21.7% vs 28.8%, P =0.866), NRM(10.9% vs 3.9%, P =0.203), OS(75.2% vs 83.8%, P =0.131) and LFS(74.6% vs 69.1%, P =0.912) between the decitabine group(37 cases) and the non-decitabine group(78 cases). CONCLUSION Decitabine-based conditioning regimen could reduce the relapse rate of AML CR1 patients with good safety.
Humans ; Leukemia, Myeloid, Acute/therapy* ; Hematopoietic Stem Cell Transplantation/methods* ; Decitabine/therapeutic use* ; Transplantation Conditioning/methods* ; Retrospective Studies ; Graft vs Host Disease ; Transplantation, Homologous ; Male ; Female ; Adult ; Middle Aged ; Adolescent ; Young Adult

BACKGROUND: Hypertension is associated with an increased risk of calcific aortic valve stenosis (CAVS). However, the directionality of causation between blood pressure traits and aortic stenosis is unclear, as is the benefit of antihypertensive drugs for CAVS. METHODS: Using genome-wide association studies (GWAS) summary statistics, we performed bidirectional two-sample univariable mendelian randomization (UVMR) to assess the causal associations of systolic blood pressure (SBP), diastolic blood pressure (DBP), and pulse pressure (PP) with CAVS. Multivariable mendelian randomization (MVMR) was conducted to evaluate the direct effect of hypertension on CAVS, adjusting for confounders. Drug target mendelian randomization (MR) and summary-level MR (SMR) were used to estimate the effects of 12 classes of antihypertensive drugs and their target genes on CAVS risk. Inverse variance weighting was the primary MR method, with sensitivity analyses to validate results. RESULTS: UVMR showed SBP, DBP, and PP have causal effects on CAVS, with no significant reverse causality. MVMR confirmed the causality between hypertension and CAVS after adjusting for confounders. Drug-target MR analyses indicated that calcium channel blockers (CCBs), loop diuretics, and thiazide diuretics via SBP lowering exerted protective effects on CAVS risk. SMR analysis showed that the CCBs target gene CACNA2D2 and ARBs target gene AGTR1 were positively associated with CAVS risk, while diuretics target genes SLC12A5 and SLC12A1 were negatively associated with aortic stenosis risk. CONCLUSIONS Hypertension has a causal relationship with CAVS. Managing SBP in hypertensive patients with CCBs may prevent CAVS. ARBs might exert protective effects on CAVS independent of blood pressure reduction. The relationship between diuretics and CAVS is complex, with opposite effects through different mechanisms.

OBJECTIVE: To explore the mechanism of colon dialysis with Yishen Decoction (YS) in improving the autophagy disorder of intestinal epithelial cells in chronic renal failure (CRF) in vivo and in vitro. METHODS: Thirty male SD rats were randomly divided into normal, CRF, and colonic dialysis with YS groups by a random number table method (n=10). The CRF model was established by orally gavage of adenine 200 mg/(kg•d) for 4 weeks. CRF rats in the YS group were treated with colonic dialysis using YS 20 g/(kg•d) for 14 consecutive days. The serum creatinine (SCr) and urea nitrogen (BUN) levels were detected by enzyme-linked immunosorbent assay. Pathological changes of kidney and colon tissues were observed by hematoxylin and eosin staining. Autophagosome changes in colonic epithelial cells was observed with electron microscopy. In vitro experiments, human colon cancer epithelial cells (T84) were cultured and divided into normal, urea model (74U), YS colon dialysis, autophagy activator rapamycin (Ra), autophagy inhibitor 3-methyladenine (3-MA), and SIRT1 activator resveratrol (Re) groups. RT-PCR and Western blot were used to detect the mRNA and protein expressions of zonula occludens-1 (ZO-1), Claudin-1, silent information regulator sirtuin 1 (SIRT1), LC3, and Beclin-1 both in vitro and in vivo. RESULTS: Colonic dialysis with YS decreased SCr and BUN levels in CRF rats (P<0.05), and alleviated the pathological changes of renal and colon tissues. Expressions of SIRT1, ZO-1, Claudin-1, Beclin-1, and LC3II/I were increased in the YS group compared with the CRF group in vivo (P<0.05). In in vitro study, compared with normal group, the expressions of SIRT1, ZO-1, and Claudin-1 were decreased, and expressions of Beclin-1, and LC3II/I were increased in the 74U group (P<0.05). Compared with the 74U group, expressions of SIRT1, ZO-1, and Claudin-1 were increased, whereas Beclin-1, and LC3II/I were decreased in the YS group (P<0.05). The treatment of 3-MA and rapamycin regulated autophagy and the expression of SIRT1. SIRT1 activator intervention up-regulated autophagy as well as the expressions of ZO-1 and Claudin-1 compared with the 74U group (P<0.05). CONCLUSION Colonic dialysis with YS could improve autophagy disorder and repair CRF intestinal mucosal barrier injury by regulating SIRT1 expression in intestinal epithelial cells.
Animals ; Sirtuin 1/metabolism* ; Drugs, Chinese Herbal/therapeutic use* ; Autophagy/drug effects* ; Male ; Intestinal Mucosa/drug effects* ; Rats, Sprague-Dawley ; Epithelial Cells/metabolism* ; Colon/drug effects* ; Humans ; Kidney Failure, Chronic/drug therapy* ; Signal Transduction/drug effects* ; Renal Dialysis ; Rats ; Kidney/drug effects*

Olfactory disorders are a common symptom in patients with chronic rhinosinusitis, and their diagnosis and treatment have garnered extensive attention from both patients and doctors. Currently, there are various evaluation and treatment methods for olfactory dysfunction; however, choosing a simpler and more accurate assessment, as well as an effective treatment, remains a clinical challenge. In this article, we review the assessment and treatment methods commonly used in clinical practice in recent years to provide better support for the diagnosis and treatment of olfactory disorders.
Humans ; Olfaction Disorders/etiology* ; Sinusitis/complications* ; Chronic Disease ; Rhinitis/complications* ; Rhinosinusitis