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

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 investigate the clinical demand for subcutaneous immunotherapy (SCIT) with pet allergens and explore the sensitization characteristics of patients undergoing pet SCIT.Methods:A cross-sectional retrospective analysis was conducted on patients diagnosed with pet allergies and treated with pet allergen SCIT in our outpatient clinic from January 2019 to December 2023. Patients were categorized into three groups based on the type of SCIT received: single-cat SCIT group, single-dog SCIT group, and combined cat-dog SCIT group.Results:A total of 931 patients were included, the age range was 5-65 years (median age of 30 years), with 283 male and 648 female. Among them, 67.7%( n=630) received single-cat SCIT, 10.9% ( n=102)received single-dog SCIT, and 21.4% ( n=199) received combined cat-dog SCIT. The number of patients receiving pet allergen SCIT increased annually. Patients in the single-dog SCIT group were significantly older than those in the other two groups ( H=41.329, P<0.001) and had a lower prevalence of allergic rhinitis (91.2% vs. 96.5% and 98.5%; χ2=10.400, P=0.006). In the combined cat-dog SCIT group, the allergy rate to mold allergens was significantly higher than in the single-cat SCIT group (12.6% vs. 4.9%, χ2=13.965, P=0.001). In the single-dog SCIT group, the allergy rate to spring pollen allergens was significantly higher than in the other two groups ( χ2=15.731, P<0.001), and the allergy rate to autumn pollen allergens was significantly higher than in the single-cat SCIT group ( χ2=13.459, P=0.001). There was no significant difference in the dust mite allergy rate among the three groups( χ2=4.117, P=0.129). In the single-dog SCIT group, patients with asthma were significantly older than those without asthma (41.2 vs. 35.2 years old, t=-2.073, P=0.041). In both the single-cat and single-dog SCIT groups, the proportion of allergic rhinitis in the asthma group(91.2%,78.3%) was significantly lower than that in the non-asthma group(97.4%,94.9%) ( χ2=8.863,6.158; P=0.008,0.026). In the single-cat SCIT group, non-asthmatic patients were significantly more likely to receive SCIT combined with spring pollen allergens compared to asthmatic patients (23.9% vs. 11.0%, χ2=7.586, P=0.006). Conclusions:The demand for pet allergen SCIT has steadily increased over the years, with a predominance of female patients. Sensitization profiles varied among patients receiving SCIT for different pet allergens. This study comprehensively elucidates the clinical demand and sensitization characteristics of patients undergoing pet allergen SCIT, providing valuable reference data for clinical diagnosis and treatment.

Objective:To explore the application effect of family participatory multisensory support programme based on the theory of enriched environment on preterm infants and their mothers in neonatal intensive care unit (NICU).Methods:A historical comparative study was conducted. One hundred and sixteen pairs of preterm infants and their mothers admitted to NICU, Affiliated Hospital of Youjiang Medical University for Nationalities from March to October 2023 were selected by convenience sampling method and divided into control group and experimental group according to the time of admission. The control group was given routine care, while the experimental group implemented a family participatory multisensory support programme based on the enriched environment theory on the basis of the control group. The amplitude-integrated electroencephalography (aEEG) scores and the Chinese version of Parent-Child Interaction Feeding Scale (PCI-FS-C) scores before and after intervention, the Gesell developmental quotients at 40 weeks and 3 months of gestational age, the Chinese version of Maternal Attachment Inventory (CMAI) scores of preterm mothers on the day of discharge and 1 and 3 months after discharge were compared between the two groups.Results:A total of 105 pairs of premature infants and their mothers were included, 52 premature infants of control group, 29 males and 23 females; 53 premature infants of experimental group, including 32 males and 21 females. Before intervention, there were no significant differences in aEEG scores and PCI-FS-C scores between the two groups (all P>0.05). After intervention, the scores of aEEG and PCI-FS-C in the experimental group were (10.91 ± 2.18) and (12.62 ± 1.32) points, respectively, which were higher than (9.67 ± 1.94) and (10.42 ± 1.45) points in the control group, and the differences were statistically significant ( t=3.06, 8.15, both P<0.05). The Gesell developmental quotient were (54.03 ± 9.73), (55.17 ± 11.19), (57.20 ± 11.04), (53.60 ± 9.74), (55.17 ± 10.11) at 40 weeks of gestational age, and (77.15 ± 11.55), (76.62 ± 9.90), (72.76 ± 11.90), (81.47 ± 10.01), (76.51 ± 12.25) at 3 months of gestational age, respectively, which were higher than the control group (49.70 ± 9.07), (49.06 ± 8.61), (52.41 ± 9.01), (49.28 ± 8.78), (50.07 ± 12.52), and (71.10 ± 11.87), (69.02 ± 12.53), (65.77 ± 12.24), (75.08 ± 11.08), (68.63 ± 10.89), the differences were statistically significant ( t values were 2.30-3.49, all P<0.05). The CMAI scores of preterm mothers in the experimental group were (82.81 ± 12.85), (87.70 ± 10.29), (95.91 ± 8.76) points on the day of discharge and 1 and 3 months after discharge, respectively, which were higher than (68.71 ± 14.15), (82.04 ± 11.87), (90.98 ± 11.13) points of the control group, the differences were statistically significant ( t=5.35, 2.61, 2.52, all P<0.05). Conclusions:The family participatory multisensory support programme based on the theory of enriched environment can accelerate the maturation of brain electrical activity in preterm infants and promote brain function and neurobehavioural development; meanwhile, it improves maternal sensitivity and promotes the establishment of mother-infant attachment relationship in preterm infants.

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.

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 investigate the clinical demand for subcutaneous immunotherapy (SCIT) with pet allergens and explore the sensitization characteristics of patients undergoing pet SCIT.Methods:A cross-sectional retrospective analysis was conducted on patients diagnosed with pet allergies and treated with pet allergen SCIT in our outpatient clinic from January 2019 to December 2023. Patients were categorized into three groups based on the type of SCIT received: single-cat SCIT group, single-dog SCIT group, and combined cat-dog SCIT group.Results:A total of 931 patients were included, the age range was 5-65 years (median age of 30 years), with 283 male and 648 female. Among them, 67.7%( n=630) received single-cat SCIT, 10.9% ( n=102)received single-dog SCIT, and 21.4% ( n=199) received combined cat-dog SCIT. The number of patients receiving pet allergen SCIT increased annually. Patients in the single-dog SCIT group were significantly older than those in the other two groups ( H=41.329, P<0.001) and had a lower prevalence of allergic rhinitis (91.2% vs. 96.5% and 98.5%; χ2=10.400, P=0.006). In the combined cat-dog SCIT group, the allergy rate to mold allergens was significantly higher than in the single-cat SCIT group (12.6% vs. 4.9%, χ2=13.965, P=0.001). In the single-dog SCIT group, the allergy rate to spring pollen allergens was significantly higher than in the other two groups ( χ2=15.731, P<0.001), and the allergy rate to autumn pollen allergens was significantly higher than in the single-cat SCIT group ( χ2=13.459, P=0.001). There was no significant difference in the dust mite allergy rate among the three groups( χ2=4.117, P=0.129). In the single-dog SCIT group, patients with asthma were significantly older than those without asthma (41.2 vs. 35.2 years old, t=-2.073, P=0.041). In both the single-cat and single-dog SCIT groups, the proportion of allergic rhinitis in the asthma group(91.2%,78.3%) was significantly lower than that in the non-asthma group(97.4%,94.9%) ( χ2=8.863,6.158; P=0.008,0.026). In the single-cat SCIT group, non-asthmatic patients were significantly more likely to receive SCIT combined with spring pollen allergens compared to asthmatic patients (23.9% vs. 11.0%, χ2=7.586, P=0.006). Conclusions:The demand for pet allergen SCIT has steadily increased over the years, with a predominance of female patients. Sensitization profiles varied among patients receiving SCIT for different pet allergens. This study comprehensively elucidates the clinical demand and sensitization characteristics of patients undergoing pet allergen SCIT, providing valuable reference data for clinical diagnosis and treatment.

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.

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