AIM:To investigate the prevalence of visual impairment and its correction status among junior high school students in Xi'an, so as to provide evidence for the development of targeted myopia prevention and control strategies.METHODS: A stratified cluster sampling design was adopted. From March to May 2025, students in grades 7-9 were recruited from three schools in Xi'an, Shaanxi Province, China: Dongfang Middle School, the Middle School Attached to Xi'an University of Technology, and the Xingqing Campus of the High School Affiliated to Xi'an Jiaotong University. In total, 3 974 students were invited, including 1 726 in grade 7, 1 206 in grade 8, and 1 042 in grade 9. The visual acuity was measured monocularly using a 5 m standard logarithmic visual acuity chart, with the fellow eye occluded; the line corresponding to the smallest optotype that could be correctly identified was recorded as the visual acuity value. Non-cycloplegic autorefraction was performed with a desktop autorefractor to obtain spherical equivalent(SE)values for refractive error screening.RESULTS: This study initially included 3 974 students, of whom 32 did not participate in the vision test, resulting in 3 942 students being included in the final analysis. Among them, 3 067(77.80%)were identified with poor vision. The prevalence of myopia was 81.47%(1 746)in males and 87.55%(1 575)in females(P<0.01). A stratified analysis by grade showed myopia rates of 81.72%(1 386)in junior grade one, 84.47%(1 017)in junior grade two, and 88.10%(918)in junior grade three, demonstrating a significant upward trend with increasing grade level(χ2=19.8484, P<0.01). Among the 3 321 myopic students, 2 287 adopted corrective measures. The rates of full correction, under-correction, and non-correction among all myopic students were 48.15%(1 599), 20.71%(688), and 31.14%(1 034), respectively. The rate of non-correction was significantly higher in male students than in females(32.70% vs 29.40%, χ2=4.2222, P<0.05).CONCLUSION: The findings indicate a high prevalence of visual impairment among junior high school students in Xi'an, coupled with suboptimal spectacle-wearing and full-correction rates. There is an urgent need for collaborative efforts across society, schools, and families to implement effective interventions to slow the onset and progression of myopia in this population.

OBJECTIVE: To explore the genetic etiology for a pregnant woman with a history of multiple adverse pregnancies and assess the phenotype-genotype correlation of 22q11.2 microduplication syndrome in her family. METHODS: Amniotic fluid sample was taken from a pregnant woman for whom non-invasive prenatal screening indicated chromosome 22 abnormalities in the fetus. Peripheral blood samples from the woman, her brother and parents were collected for high-throughput low-depth whole genome sequencing (CNV-seq). A pedigree traceability analysis of the results was conducted in conjunction with analysis of clinical manifestation. Relevant literature (from establishment to March 2025) was systematically searched. This study was approved by the Medical Ethics Committee of Mianyang Maternal and Child Health Care Hospital (Ethics No.: Lun Shen [2024]009). RESULTS: CNV-seq revealed that the fetus had harbored a 6.02 Mb duplication at 22q11.21q11.23. Karyotyping confirmed it as 46,X?dup(22)(q11.2). Pedigree verification demonstrated that the pregnant woman, her brother and mother had all carried the same duplication. Phenotypic analysis of the affected family members showed classic features of 22q11.2 microduplication syndrome, including hypernasal speech, low nasal bridge, congenital heart disease, and cognitive impairment. A total of 44 cases with full information (including three patients from this pedigree) were included in the analysis. The penetrance of 22q11.2 duplication was approximately 29.5% (13/44), and 52.3% (23/44) of the cases had inherited the variant from a phenotypically normal parent. CONCLUSION This study has identified the genetic basis for the woman's recurrent adverse pregnancies and phenotypic abnormalities in her family members. The scoliosis identified in her younger brother has not been previously reported, thereby may enrich the clinical phenotype of this syndrome. For fetuses identified with a 22q11.2 microduplication, detailed fetal imaging is recommended, and genetic counseling should be provided to the couples.
Humans ; Female ; Pregnancy ; Prenatal Diagnosis/methods* ; Chromosome Duplication/genetics* ; Male ; Pedigree ; DiGeorge Syndrome/diagnosis* ; Adult ; Chromosomes, Human, Pair 22/genetics* ; Abnormalities, Multiple

Objective:To investigate the regulatory role of the tumor suppressor gene ARID1A(AT-rich interaction domain 1A)in the proliferation of lung adenocarcinoma(LUAD)cells and its molecular mechanism associated with the protein kinase B(AKT)signaling pathway.Methods:Stable ARID1A-overexpressing A549/H1299 cell models were constructed via lentiviral transfection,with transfection efficiency validated by RT-PCR and Western blot.Cell viability was assessed using the CCK-8 assay,proliferation rate was evaluated using EdU staining,and migration capacity was analyzed by scratch assay.Cell death was evaluated through Calcein/PI live/dead staining and trypan blue exclusion.The phosphorylation level of AKT(p-AKT/AKT ratio)was detected by Western blot.The role of AKT in proliferation regulation was further validated by treating overexpressing cells with the AKT inhibitor MK-2206(1 μmol/L).Results:ARID1A overexpression significantly inhibited the proliferation and migration of A549/H1299 cells while upregulating p-AKT levels.MK-2206 treatment abolished the inhibitory effects of ARID1A overexpression on proliferation.Cell death assays demonstrated no significant impact of ARID1A overexpression on LUAD cell mortality.Conclusion:ARID1A specifically suppresses LUAD cell proliferation and migration by activating the AKT signaling pathway,suggesting that targeting AKT may provide a potential therapeutic strategy for LUAD patients with ARID1A deficiency.

Although enteric glial cell (EGC) abnormal activation is reported to be involved in the pathogenesis of Parkinson's disease (PD), and inhibition of EGC gliosis alleviated gut and dopaminergic neuronal dysfunction was verified in our previous study, the potential role of gut microbiota on EGC function in PD still need to be addressed. In the present study, fecal microbiota transplantation revealed that EGC function was regulated by gut microbiota. By employing 16S rRNA and metabolomic analysis, we identified that 3-indolepropionic acid (IPA) was the most affected differential microbial metabolite that regulated EGC gliosis. The protective effects of IPA on PD were validated in rotenone-stimulated EGCs and rotenone (30 mg/kg i.g. for 4 weeks)-induced PD mice, as indicated by decreased inflammation, improved intestinal and brain barrier as well as dopaminergic neuronal function. Mechanistic study showed that IPA targeted pregnane X receptor (PXR) in EGCs, and inhibition of IL-13Rα1 involved cytokine-cytokine receptor interaction pathway, leading to inactivation of downstream JAK1-STAT6 pathway. Our data not only provided evidence that EGC gliosis was critical in spreading intestinal damage to brain, but also highlighted the potential role of microbial metabolite IPA in alleviating PD pathological damages through gut-brain axis.

[This corrects the article DOI: 10.1016/j.apsb.2025.02.029.].

Palmitoylation, an essential covalent attachment of a fatty acid (usually C16 palmitate) to cysteine residues within proteins, is crucial for regulating protein functionality and enzymatic activities. This lipid modification facilitates the anchoring of proteins to cellular membranes, dictating their subcellular distribution and influencing protein transport dynamics and intracellular positioning. Additionally, it plays a role in regulating protein degradation through the ubiquitin-proteasome system. Palmitoylation is implicated in the pathogenesis and progression of cardiovascular diseases by modulating substrates and prompting additional post-translational modifications, as well as by interacting with other molecular alterations. Moreover, an intervention strategy focusing on palmitoylation processes is anticipated to offer novel therapeutic avenues for cardiovascular pathologies and address extant challenges in clinical settings. This review consolidates current research on the role and importance of palmitoylation in cardiovascular diseases by exploring its regulatory functions, the catalyzing enzymes, and the involved substrates. It highlights recent discoveries connecting palmitoylation-targeted therapies to cardiovascular health and examines potential approaches and future challenges in cardiovascular treatment.

One of the basic questions in the aging field is whether there is a fundamental difference between the aging of lower invertebrates and mammals. A major difference between the lower invertebrates and mammals is the abundancy of noncoding RNAs, most of which are not conserved. We have previously identified a noncoding RNA Terc-53 that is derived from the RNA component of telomerase Terc. To study its physiological functions, we generated two transgenic mouse models overexpressing the RNA in wild-type and early-aging Terc-/- backgrounds. Terc-53 mice showed age-related cognition decline and shortened life span, even though no developmental defects or physiological abnormality at an early age was observed, indicating its involvement in normal aging of mammals. Subsequent mechanistic study identified hyaluronan-mediated motility receptor (Hmmr) as the main effector of Terc-53. Terc-53 mediates the degradation of Hmmr, leading to an increase of inflammation in the affected tissues, accelerating organismal aging. adeno-associated virus delivered supplementation of Hmmr in the hippocampus reversed the cognition decline in Terc-53 transgenic mice. Neither Terc-53 nor Hmmr has homologs in C. elegans. Neither do arthropods express hyaluronan. These findings demonstrate the complexity of aging in mammals and open new paths for exploring noncoding RNA and Hmmr as means of treating age-related physical debilities and improving healthspan.
Animals ; Mice ; RNA, Untranslated/metabolism* ; Aging/genetics* ; Mice, Transgenic ; Telomerase/metabolism* ; RNA/genetics* ; Hippocampus/metabolism* ; Humans ; Mice, Inbred C57BL

Objective To compare the efficacy and safety of defocus incorporated soft contact lenses(DISC)and orthokeratology(Ortho-K)for myopia control in children aged 8～15 years,and to further investigate the influence of dif-ferent baseline age and spherical equivalent(SE)on the treatment effect.Methods A retrospective cohort study was conducted,involving 197 myopic children(197 eyes)aged 8～15 years who were fitted with contact lenses at the Depart-ment of Ophthalmology,Xi'an People's Hospital(Xi'an Fourth Hospital)from May to September 2023.They were divid-ed into the DISC group(97 cases)and the Ortho-K group(100 cases).After 12 months of continuous follow-up,the chan-ges in axial length(AL)at 3,6,and 12 months after lens wear were compared between the two groups.Subgroup analysis was then performed:participants were divided into a younger subgroup(8～10 years)and an older subgroup(11～15 years)based on pre-wear age,and into a low myopia subgroup(-1.00～-3.00 D)and a moderate myopia subgroup(-3.25～-6.00 D)based on pre-wear SE.The AL changes at 3,6,and 12 months after wearing DISC or Ortho-K were com-pared between groups within these subgroups.Meanwhile,the incidence of conjunctivitis,incidence of corneal staining,corneal endothelial cell density,and corneal thickness were compared between the two groups at 12 months after lens wear.Results Inter-group comparisons showed:The change in AL in the DISC group at 3 months after lens wear was significantly lower than that in the Ortho-K group,and the difference was statistically significant(P＜0.05);at 6 and 12 months after lens wear,the differences in AL change between the two groups were not statistically significant(both P＞0.05).Subgroup analysis by age and SE showed:In the younger subgroup and the low myopia subgroup,the AL change in the DISC group at 3 months after lens wear was significantly lower than that in the Ortho-K group,and the differences were statistically significant(both P＜0.05),but these differences disappeared at 6 and 12 months after lens wear(all P＞0.05);in the older subgroup and the moderate myopia subgroup,the differences in AL change between the two groups at 3,6,and 12 months after lens wear were not statistically significant(all P＞0.05).At 12 months after lens wear,there were no statistically significant differences in the incidence of conjunctivitis,incidence of corneal staining,corneal endothe-lial cell density,or corneal thickness between the DISC and Ortho-K groups(all P＞0.05).Conclusion DISC demon-strates superior myopia control efficacy in the short term(3 months)for younger children and those with low myopia,but its medium-term(6 months)and long-term(12 months)efficacy converges with that of Ortho-K.Furthermore,the long-term safety of DISC is not significantly different from that of Ortho-K.

Objectives:We evaluated the clinical significance of unipolar electrogram and bipolar electrogram in guiding radiofrequency ablation for outflow tract ventricular premature contractions(PVC).Methods:Data were collected from 78 patients who underwent successful radiofrequency ablation of PVC.Pre-procedure electrocardiogram showed a LBBB morphology on inferior leads.In the included patients,the right-side ablation was performed at first,and if the ablation failed,the left-side ablation was then performed.According to the location of the successful ablation target,they were divided into unilateral ablation successful group and bilateral ablation successful group.The differences in the earliest bipolar local activation to QRS(LATBi),unipolar-dV/dTmax to QRS(LATUni),and local activation time were compared between the two groups.Furthermore,the electrogram characteristics predicting bilateral ablation were explored.Results:Patients were divided into unilateral ablation group(n=57)and bilateral ablation group(n=21)according to the ablation site.There were statistically significant differences in LATBi(25[21,30]ms vs.14[10,24]ms),LATUni(7[0,17]ms vs.-23[-41,-11]ms),and ΔLATBi-Uni(15[11,25]ms vs.44[25,56]ms)between the unilateral ablation group and the bilateral ablation group(all P<0.05).Multivariate regression analysis suggested that LATBi,LATUni,and ΔLATBi-Uni were independent predictors of the need for bilateral ablation.There was no significant difference between left and right LATBi,LATUni and ΔLATBi-Uni in the bilateral ablation group.LATUni≤-1 was the most accurate parameter for predicting the need for bilateral ablation(AUC=0.941;specificity 80.7%;sensitivity 100%).Conclusions:LATUni≤-1ms is a useful indicator for predicting the need for bilateral PVC ablation in this patient cohort.

Objective To compare the efficacy and safety of defocus incorporated soft contact lenses(DISC)and orthokeratology(Ortho-K)for myopia control in children aged 8～15 years,and to further investigate the influence of dif-ferent baseline age and spherical equivalent(SE)on the treatment effect.Methods A retrospective cohort study was conducted,involving 197 myopic children(197 eyes)aged 8～15 years who were fitted with contact lenses at the Depart-ment of Ophthalmology,Xi'an People's Hospital(Xi'an Fourth Hospital)from May to September 2023.They were divid-ed into the DISC group(97 cases)and the Ortho-K group(100 cases).After 12 months of continuous follow-up,the chan-ges in axial length(AL)at 3,6,and 12 months after lens wear were compared between the two groups.Subgroup analysis was then performed:participants were divided into a younger subgroup(8～10 years)and an older subgroup(11～15 years)based on pre-wear age,and into a low myopia subgroup(-1.00～-3.00 D)and a moderate myopia subgroup(-3.25～-6.00 D)based on pre-wear SE.The AL changes at 3,6,and 12 months after wearing DISC or Ortho-K were com-pared between groups within these subgroups.Meanwhile,the incidence of conjunctivitis,incidence of corneal staining,corneal endothelial cell density,and corneal thickness were compared between the two groups at 12 months after lens wear.Results Inter-group comparisons showed:The change in AL in the DISC group at 3 months after lens wear was significantly lower than that in the Ortho-K group,and the difference was statistically significant(P＜0.05);at 6 and 12 months after lens wear,the differences in AL change between the two groups were not statistically significant(both P＞0.05).Subgroup analysis by age and SE showed:In the younger subgroup and the low myopia subgroup,the AL change in the DISC group at 3 months after lens wear was significantly lower than that in the Ortho-K group,and the differences were statistically significant(both P＜0.05),but these differences disappeared at 6 and 12 months after lens wear(all P＞0.05);in the older subgroup and the moderate myopia subgroup,the differences in AL change between the two groups at 3,6,and 12 months after lens wear were not statistically significant(all P＞0.05).At 12 months after lens wear,there were no statistically significant differences in the incidence of conjunctivitis,incidence of corneal staining,corneal endothe-lial cell density,or corneal thickness between the DISC and Ortho-K groups(all P＞0.05).Conclusion DISC demon-strates superior myopia control efficacy in the short term(3 months)for younger children and those with low myopia,but its medium-term(6 months)and long-term(12 months)efficacy converges with that of Ortho-K.Furthermore,the long-term safety of DISC is not significantly different from that of Ortho-K.