AIM: To analyze the current status and influencing factors for insufficient hyperopia reserve in preschool children from Changzhi City, Shanxi Province, and to provide reference and basis for myopia prevention and control in this district.METHODS: A stratified cluster random sampling strategy was used to select 2 854 preschool children(5 708 eyes)from 29 child-care centers in Changzhi City between January and May 2024. Hyperopia reserve was assessed through measurements and questionnaire surveys. Totally 2 820 cases(5 640 eyes)were finally included, with 34 cases excluded(32 cases of uncooperativeness and 2 cases of distractibility). The univariate analysis and multivariate Logistic regression were performed to analyze the associated influencing factors of insufficient hyperopia reserve.RESULTS: A total of 580 preschool children with insufficient hyperopia reserve were detected, with an incidence of 20.57%. Logistic regression analysis revealed that male(OR=1.723, 95% CI: 1.419-2.093), maternal myopia(OR=2.210, 95% CI: 1.681-2.906), paternal myopia(OR=1.426, 95% CI: 1.059-1.921), myopia in both parents(OR=2.761, 95% CI: 2.110-3.612), preterm infants(OR=1.740, 95% CI: 1.294-2.342), the mean daily sleep duration <10 h(OR=1.272, 95% CI: 1.024-1.579), and the mean daily outdoor activity time <2 h(OR=1.222, 95% CI: 1.005-1.485)were risk factors for insufficient hyperopia reserve(all P<0.05). Conversely, using blackout curtains during the day and turning off lights at night(OR=0.598, 95% CI: 0.405-0.883)were identified to be protective factors(P<0.05).CONCLUSION: Sex, genetics, gestational age, sleep duration and environmental conditions, and outdoor activity time are potentially associated with insufficient hyperopia reserve in preschool children. Caregivers should prioritize the management of these risk factors to prevent the occurrence of myopia.

Renal fibrosis is a common pathological change from development to end-stage renal diseases in all progressive chronic kidney diseases. Renal fibrosis after kidney transplantation will severely affect the renal graft function. Macrophages are characterized with high heterogeneity and plasticity. During the process of kidney injury, macrophages are recruited, activated and polarized by local microenvironment, and participate in the process of renal tissue injury, repair and fibrosis through multiple mechanisms. Recent studies have shown that macrophages may transit into myofibroblasts and directly participate in the formation of renal fibrosis. This process is known as macrophage-myofibroblast transition. Nevertheless, the regulatory mechanism remains elusive. In this article, the role of macrophages in renal fibrosis, the characteristics of macrophage-myofibroblast transition and the possible regulatory mechanism were reviewed, aiming to provide reference for relevant research of renal fibrosis.

IKBKG is the essential modulator for nuclear factor-κB(NF-κB) signaling pathway, and mutations within this gene can lead to anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID). Here we report a male patient, who presented with mild frontal bossing, sparse hair, skin pigmentation, conical teeth, and recurrent infections involving bacteria, fungi, and viruses after one month of age, together with hypogammaglobulinemia. These symptoms were consistent with the phenotype of EDA-ID. Genetic analysis revealed a hemizygous mutation c.1249T > G (p.Cys417Gly) in exon 10 of the IKBKG gene in the patient. The mother of the patient was identified as heterozygous carriers of the same mutation. Immunological assessment revealed a significant reduction in memory B cells. The patient showed no skewed TCR diversity. PHA-induced T-cell proliferation was impaired. IFN-γ secretion by Th cells was significantly reduced after PHA stimulation. IκBα degradation rate retained the same in the patient. We summarized the clinical features of the patient and conducted immunological analysis, in order to increase pediatricians′awareness of this rare disease. For boys with early-onset recurrent infections together with ectodermal dysplasia, IKBKG mutation should be considered. In addition, genetic analysis is needed to exclude pseudogene interference and functional evaluations are required.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

Objective:To analyze the levels of antibody to measles virus in cord blood of newborns in Ankang city, and provide reference for the development of measles prevention and control measures and strategies.Methods:From January to December, 2023, 1 058 pregnant women from 10 county-level general hospitals in Ankang city were recruited in this study. Neonatal umbilical cord blood samples were collected for detecting IgG antibody against measles with ELISA. SPSS 21.0 software was used to analyze the positive rate of antibody to measles virus and the influencing factors.Results:The overall positive rate of IgG antibody to measles virus was 89.22% (944/1 058), and the geometric mean concentration (GMC) was 570.26 mlU/ml. The positive rates of IgG antibody against measles virus in umbilical cord blood of neonates born to women aged ≤20, 21-25, 26-30, 31-35, and ≥36 years old were 91.07% (51/56), 90.27% (232/257), 89.54% (351/392), 88.12% (230/261), and 86.96% (80/92), respectively (χ 2=1.355, P=0.852). Multivariate logistic regression analysis showed that the positive rate of IgG antibody against measles virus in umbilical cord blood samples was higher in neonates with gestational age ≥37 weeks than in those with gestational age <37 weeks [OR (95%CI): 0.403 (0.262-0.622)]. Besides, the positive rate was also higher in newborns with a birth weight of 3.0-3.5 kg than in those with birth weight <3 kg or ≥3.5 kg [OR (95%CI): 0.868 (0.462-1.629), 1.765(1.087-2.865)]. Conclusions:The positive rate and the GMC of IgG antibody to measles virus in neonatal umbilical cord blood decrease with maternal age. It is recommended that women of childbearing age should receive supplementary immunization with measles-containing vaccine before pregnancy.

Objective:To explore the association of gait speed and cognitive function of the community-dwelling elderly.Methods:From March to December 2021, a total of 1 172 Xinxiang community-dwelling elderly people were investigated by general information questionnaire, mini-mental state examination(MMSE), patient health questionnaire depression scale and 4.6 m gait test. The elderly were divided into five groups based on the quintile grouping of gait speed values, with Q1 group (≤0.76 m/s), Q2 group (0.77-0.88 m/s), Q3 group (0.89-0.98 m/s), Q4 group (0.99-1.11 m/s) and Q5 group (≥1.12 m/s). SPSS 25.0 statistical software was used for descriptive statistics, and binary Logistic regression was used to analyze the influence of gait speed and depression on cognitive impairment of the elderly.Results:The gait speed of community-dwelling elderly people was (0.92±0.22) m/s. The scores of MMSE in Q1-Q5 groups were (24.72±3.67), (26.63±2.90), (26.58±2.66), (27.01±2.45) and (27.18±2.35), respectively, and the cognitive function was significantly different among the five gait speed groups( F=27.92, P<0.05). The results of binary Logistics regression showed that compared with Q1 group, the OR value (95% CI) of cognitive impairment in Q2-Q5 group were 0.475 (0.253-0.893), 0.426 (0.219-0.828), 0.421(0.212-0.826) and 0.371(0.179-0.766), respectively, which indicated that fast walking speed was a protective factor for cognitive function. Old age ( OR=1.096, 95% CI=1.053-1.140) and depression ( OR=14.441, 95% CI=12.670-19.829) were risk factors of cognitive impairment. Conclusion:The gait speed is associated with cognitive function among community-dwelling elderly people, and faster gait speed is a protective factor for cognitive function.

Objective:To compare the consistency of lymphoma multigene detection panels based on next-generation sequencing (NGS) with FISH detection of B-cell lymphoma gene rearrangement.Methods:From January 2019 to May 2023, fusion genes detected by lymphoma-related 413 genes that targeted capture sequencing of 489 B-cell lymphoma tissues embedded in paraffin were collected from Henan Cancer Hospital, and the results were compared with simultaneous FISH detection of four break/fusion genes: BCL2, BCL6, MYC, and CCND1. Consistency was defined as both methods yielding positive or negative results for the same sample. The relationship between fusion mutation abundance in NGS and the positivity rate of cells in FISH was also analyzed.Results:Kappa consistency analysis revealed high consistency between NGS and FISH in detecting the four B-cell lymphoma-related gene rearrangement ( P<0.001 for all) ; however, the detection rates of positive individuals differed for the four genes. Compared with FISH, NGS demonstrated a higher detection rate for BCL2 rearrangement, a lower detection rate for BCL6 and MYC rearrangement, and a similar detection rate for CCND1 rearrangement. No correlation was found between fusion mutation abundance in NGS and the positivity rate of cells in FISH. Conclusions:NGS and FISH detection of B-cell lymphoma gene rearrangement demonstrate overall good consistency. NGS is superior to FISH in detecting BCL2 rearrangement, inferior in detecting MYC rearrangement, and comparable in detecting CCND1 rearrangement.

Behavioral activation therapy is a short-term psychological treatment for depression.It has achieved positive results in the treatment of depression due to its simplicity and low treatment cost.Driven by the development of information technology and the aging of population,behavioral activation therapy is constantly innovated to meet the needs of depression treatment.This article reviews the application of behavioral activation therapy in depression treatment,and focuses on the innovative application progress based on the analysis of the connotation and current status of behavioral activation therapy.