Objective:To determine the prevalence of GJB2 gene c. 109G>A (p.V37I) variant among infants with congenital hearing loss and analyze the initial audiological characteristics of children harboring the variant, compare the audiometric difference among individuals with various genotypes, and explore genetic and audiological manifestations of the affected families. Methods:One hundred twenty six infants diagnosed with congenital hearing loss at the Neonate Screening Center of Ningbo City from June 2021 to December 2024 were selected as the study subjects. The neonates, in addition with members from 16 of their families, had undergone genetic screening for variants of 208 hotspot sites within 24 deafness-associated genes. For cases identified with monoallelic variants and concurrent hearing loss, the full GJB2 gene was sequenced. Meanwhile, a retrospective analysis was carried out on 23 children whom were confirmed to have hearing loss and the c. 109G>A variant by whole exome sequencing from March 2022 to December 2024. And 102 children who were excluded to have hearing loss and pathogenic variants by whole exome sequencing were selected as normal controls. Audiological features of individuals harboring the c. 109G>A variant were compared. This study has been approved by the Medical Ethics Committee of The Affiliated Women and Children′s Hospital of Ningbo University (Ethics No.: EC2023-009). Results:For the 126 infants with congenital hearing loss, prospective screening has identified 58 (46.03%) to harbor the c. 109G>A variant. These included 38 homozygotes and 16 compound heterozygotes. Retrospective review of the 23 c. 109G>A positive children has identified 15 as homozygotes and 8 as compound heterozygotes. Genetic testing of the 16 pedigrees has identified 7 homozygotes and 1 compound heterozygote. For the homozygotes combined ( n=53), 96.2% exhibited bilateral symmetric hearing loss, with 78.3% showing high-frequency sloping patterns, and 98.1% having a hearing threshold ranging from 20 to 65 dB. For the compound heterozygotes combined ( n=24), 95.8% showed symmetric loss, with 59.4% having high-frequency sloping, and 97.9% had a hearing threshold ranging from 20 to 65 dB. Both groups showed significantly elevated ABR/PTA thresholds compared with the normal controls ( P=0.000). The compound heterozygous group had higher ABR thresholds (43.3 ± 15.0 dB nHL) compared with the homozygous group (39.1±12.0 dB nHL, P=0.005). Conclusion:Infants harboring the GJB2 c. 109G>A variant primarily manifest as mild-to-moderate, symmetric, high-frequency sloping hearing loss. Nearly one-third of affected children have thresholds between 20 to 35 dB nHL, suggesting that ABR > 35 dB nHL alone may underestimate the hearing impairment in this population. Compared with homozygotes, compound heterozygotes with the the GJB2 c. 109G>A variant can confer a more severe hearing loss.

OBJECTIVE: To determine the prevalence of GJB2 gene c.109G>A (p.V37I) variant among infants with congenital hearing loss and analyze the initial audiological characteristics of children harboring the variant, compare the audiometric difference among individuals with various genotypes, and explore genetic and audiological manifestations of the affected families. METHODS: One hundred twenty six infants diagnosed with congenital hearing loss at the Neonate Screening Center of Ningbo City from June 2021 to December 2024 were selected as the study subjects. The neonates, in addition with members from 16 of their families, had undergone genetic screening for variants of 208 hotspot sites within 24 deafness-associated genes. For cases identified with monoallelic variants and concurrent hearing loss, the full GJB2 gene was sequenced. Meanwhile, a retrospective analysis was carried out on 23 children whom were confirmed to have hearing loss and the c.109G>A variant by whole exome sequencing from March 2022 to December 2024. And 102 children who were excluded to have hearing loss and pathogenic variants by whole exome sequencing were selected as normal controls. Audiological features of individuals harboring the c.109G>A variant were compared. This study has been approved by the Medical Ethics Committee of The Affiliated Women and Children's Hospital of Ningbo University (Ethics No.: EC2023-009). RESULTS: For the 126 infants with congenital hearing loss, prospective screening has identified 58 (46.03%) to harbor the c.109G>A variant. These included 38 homozygotes and 16 compound heterozygotes. Retrospective review of the 23 c.109G>A positive children has identified 15 as homozygotes and 8 as compound heterozygotes. Genetic testing of the 16 pedigrees has identified 7 homozygotes and 1 compound heterozygote. For the homozygotes combined (n = 53), 96.2% exhibited bilateral symmetric hearing loss, with 78.3% showing high-frequency sloping patterns, and 98.1% having a hearing threshold ranging from 20 to 65 dB. For the compound heterozygotes combined (n = 24), 95.8% showed symmetric loss, with 59.4% having high-frequency sloping, and 97.9% had a hearing threshold ranging from 20 to 65 dB. Both groups showed significantly elevated ABR/PTA thresholds compared with the normal controls (P = 0.000). The compound heterozygous group had higher ABR thresholds (43.3 ± 15.0 dB nHL) compared with the homozygous group (39.1 ± 12.0 dB nHL, P = 0.005). CONCLUSION Infants harboring the GJB2 c.109G>A variant primarily manifest as mild-to-moderate, symmetric, high-frequency sloping hearing loss. Nearly one-third of affected children have thresholds between 20 to 35 dB nHL, suggesting that ABR > 35 dB nHL alone may underestimate the hearing impairment in this population. Compared with homozygotes, compound heterozygotes with the the GJB2 c.109G>A variant can confer a more severe hearing loss.
Humans ; Connexin 26/genetics* ; Female ; Male ; Infant, Newborn ; Infant ; Hearing Loss/genetics* ; Retrospective Studies ; Child, Preschool ; Child ; Genotype ; Connexins/genetics* ; Mutation

Objective:To determine the prevalence of GJB2 gene c. 109G>A (p.V37I) variant among infants with congenital hearing loss and analyze the initial audiological characteristics of children harboring the variant, compare the audiometric difference among individuals with various genotypes, and explore genetic and audiological manifestations of the affected families. Methods:One hundred twenty six infants diagnosed with congenital hearing loss at the Neonate Screening Center of Ningbo City from June 2021 to December 2024 were selected as the study subjects. The neonates, in addition with members from 16 of their families, had undergone genetic screening for variants of 208 hotspot sites within 24 deafness-associated genes. For cases identified with monoallelic variants and concurrent hearing loss, the full GJB2 gene was sequenced. Meanwhile, a retrospective analysis was carried out on 23 children whom were confirmed to have hearing loss and the c. 109G>A variant by whole exome sequencing from March 2022 to December 2024. And 102 children who were excluded to have hearing loss and pathogenic variants by whole exome sequencing were selected as normal controls. Audiological features of individuals harboring the c. 109G>A variant were compared. This study has been approved by the Medical Ethics Committee of The Affiliated Women and Children′s Hospital of Ningbo University (Ethics No.: EC2023-009). Results:For the 126 infants with congenital hearing loss, prospective screening has identified 58 (46.03%) to harbor the c. 109G>A variant. These included 38 homozygotes and 16 compound heterozygotes. Retrospective review of the 23 c. 109G>A positive children has identified 15 as homozygotes and 8 as compound heterozygotes. Genetic testing of the 16 pedigrees has identified 7 homozygotes and 1 compound heterozygote. For the homozygotes combined ( n=53), 96.2% exhibited bilateral symmetric hearing loss, with 78.3% showing high-frequency sloping patterns, and 98.1% having a hearing threshold ranging from 20 to 65 dB. For the compound heterozygotes combined ( n=24), 95.8% showed symmetric loss, with 59.4% having high-frequency sloping, and 97.9% had a hearing threshold ranging from 20 to 65 dB. Both groups showed significantly elevated ABR/PTA thresholds compared with the normal controls ( P=0.000). The compound heterozygous group had higher ABR thresholds (43.3 ± 15.0 dB nHL) compared with the homozygous group (39.1±12.0 dB nHL, P=0.005). Conclusion:Infants harboring the GJB2 c. 109G>A variant primarily manifest as mild-to-moderate, symmetric, high-frequency sloping hearing loss. Nearly one-third of affected children have thresholds between 20 to 35 dB nHL, suggesting that ABR > 35 dB nHL alone may underestimate the hearing impairment in this population. Compared with homozygotes, compound heterozygotes with the the GJB2 c. 109G>A variant can confer a more severe hearing loss.

Abstract Health literate schools (HeLit-Schools) play a significant role in fostering students health literacy. The paper elucidates the background and conceptual connotations of HeLit-Schools, and analyzes how HeLit-Schools effectively integrate and enhance the health literacy of schools in three aspects: philosophy and core drivers, strategy and method implementation, as well as evaluation mechanisms and standard setting. Furthermore, the paper explores the implications of foreign HeLit-Schools research and practice for China under the context of "Healthy China" construction, as well as the key strategies for Chinese schools in the implementation of HeLit-Schools, aiming to provide a new perspective and theoretical support for Chinese schools to practice the "Healthy China initiative" and strengthen school construction from the perspective of health literacy.

Objective To observe the effects of Jianpi Qutan Huayu Prescription on oxidative stress and inflammatory response in mini-pigs with atherosclerosis(AS);To explore its mechanism based on the NOX5-ERK1/2 signaling pathway.Methods Twelve Bama mini-pigs were randomly divided into control group,model group,and Jianpi Qutan Huayu Prescription low-and high-dosage groups,with 3 pigs in each group.A high-fat diet was used to feed for 24 weeks to construct an AS model,and the treatment group was also supplemented with Jianpi Qutan Huayu Prescription in the feed.The general condition of mini-pigs(body length,abdominal circumference,body mass,food intake,and fecal water content)was measured at week 0,16,and 24 of administration,HE staining was used to observe the morphology of aortic tissue,while oil red O staining was used to observe lipid deposition in aortic and myocardial tissue,transmission electron microscopy was used to observe the ultrastructure of aortic tissue,and a fully automated biochemical analyzer was used to detect serum contents of TC,HDL-C,and LDL-C.ELISA was used to detect the contents of serum reactive oxygen species(ROS),interleukin(IL)-6,IL-10,tumor necrosis factor(TNF)-α,hypersensitivity-C-reactive protein(hs-CRP),vascular cell adhesion molecule-1(VCAM-1),and intercellular adhesion molecule-1(ICAM-1).Western blot was used to detect the expressions of NADPH oxidase 5(NOX5),extracellular signal regulated kinase 1/2(ERK1/2),p-ERK1/2,VCAM-1,and proliferating cell nuclear antigen(PCNA)proteins.Results Compared with the control group,the abdominal circumference,body mass,and food intake of mini-pigs in the model group increased at 16 and 24 weeks(P<0.01),there was significant thickening of the inner membrane of aorta,destruction of endothelial cells,lipid deposition,edema of smooth muscle cells,and significant swelling of mitochondria,serum TC,LDL-C contents and the contents of ROS,IL-6,IL-10,TNF-α,hs-CRP,VCAM-1,and ICAM-1 increased,while the content of HDL-C decreased(P<0.01);the expressions of NOX5,p-ERK1/2,VCAM-1,and PCNA proteins in aortic tissue increased(P<0.01).Compared with the model group,Jianpi Qutan Huayu Prescription low-and high-dosage groups showed a decrease in abdominal circumference,body mass,and food intake at 16 and 24 weeks(P<0.05,P<0.01),the plaque area and lipid deposition were reduced,and the damage to endothelial cells was alleviated,serum TC,LDL-C contents and the contents of ROS,IL-6,IL-10,TNF-α,hs-CRP,ICAM-1,and VCAM-1 decreased,and the content of HDL-C increased(P<0.01,P<0.05);the expressiond of NOX5,p-ERK1/2,VCAM-1,and PCNA proteins in aortic tissue decreased(P<0.01,P<0.05).Conclusion Jianpi Qutan Huayu Prescription can effectively alleviate AS in mini-pigs,and its mechanism may be related to inhibiting the activation of the NOX5-ERK1/2 signaling pathway and alleviating oxidative stress-induced inflammatory response.

Objective:To systematically search, evaluate and integrate the relevant evidence of nutrition management in breast cancer patients, and summarize the best evidence, so as to provide evidence for the clinical practice of nutrition management in breast cancer patients.Methods:Evidence-based nursing method was adopted. The BMJ Best Practice, Cochrane Library, etc. and websites were systematically searched for relevant clinical decisions, guidelines, expert consensus,etc. on nutrition management in breast cancer patients. The search period was from the establishment of the database to June 21, 2023. Three researchers independently evaluated the quality of the included literature and the level of evidence and recommendation.Results:A total of 17 pieces of literature were included, including 2 clinical decisions, 6 guidelines, 1 expert consensus and 8 systematic reviews. A total of 33 pieces of best evidence were summarized on 8 aspects, including objective, nutrition screening and assessment, nutrition management population, body mass index management, nutrient structure, diet type and quantity, the use of health products and nutritional supplements, and nutritional monitoring and follow-up.Conclusions:The study summarized the best evidence on nutrition management in breast cancer patients, and provided evidence-based basis for healthcare professionals to better manage nutrition in breast cancer patients. In the practical application of evidence, the differences in dietary habits, structures and religious beliefs of different regions and cultures should be considered, and the best evidence appropriate for individuals should be reasonably selected, taking patients′ own wishes and preferences into account, so as to provide more scientific and comprehensive nutrition management for breast cancer patients.

Herb-induced liver injury (HILI) is a type of drug-induced liver injury (DILI) caused by Chinese herb medicines, natural medicines or their related preparations. With the increasing number of reports on HILI events in recent years, traditional Chinese medicine is facing great challenges and controversies. Compared to other types of DILI, HILI is more complicated in terms of diagnosis and risk factors.This article reviews the current research status on the herb-induced liver injury.

Objective To observe the expression and significance of helper T cells 9(Th9),helper T cells 22(Th22)and their ef-fector factors in peripheral blood of drug-induced liver injury(DILI).Methods Fifty-six patients with DILI were selected as DILI group and 15healthy volunteers as healthy control group.The DILI group was divided into four groups:mild liver injury group(15 cases),moderate liver injury group(15 cases),severe liver injury group(15 cases)and acute liver failure group(11 cases).Meanwhile,serum liver function,peripheral blood Th9 and Th22,serum interleukin-9(IL-9)and interleukin-22(IL-22)were detected before and after treatment.To observe and analyze the changes of Th9,Th22,IL-9 and IL-22 in DILI,as well as their relationship with the de-gree and type of liver injury.Results There were significant differences in total bilirubin(TBIL),alanine aminotransferase(ALT),as-partate aminotranferase(AST)and alkaline phosphatase(ALP)before and after treatment in the mild DILI group(t were 5.777,10.347,4.225,2.948;P＜0.05),but no significant differences in international normalized ratio(INR)(t=0.210,P＞0.05).There were significant differences in TBIL,ALT,AST,ALP and INR before and after treatment in moderate liver injury group(t were 7.642,5.842,5.747,3.924,5.206;P＜0.05).There were significant differences in TBIL,ALT,AST,ALP and INR before and after treat-ment in severe liver injury group(t were 6.410,5.369,4.726,3.893,6.487;P＜0.05).There were no significant differences in TBIL,ALP and INR before and after treatment in acute liver failure group(t were 0.669,0.072,0.521;P＞0.05),while there were significant differences in ALT and AST(t were 5.466,7.184;P＜0.05).The levels of Th9 and Th22 in peripheral blood and serum IL-9 and IL-22 of related cytokines in patients with DILI were higher than those in healthy control group,and the differences between the two groups were statistically significant(t were 2.269,2.481,6.014,4.987;P＜0.05).There were statistically significant differ-ences in Th9,Th22,IL-9 and IL-22 before and after treatment in mild and moderate liver injury groups(t were 3.556,-5.906,8.258,-2.219,5.906,-8.500,7.982,-5.403;P＜0.05).There were statistically significant differences in Th9 and IL-9 be-fore and after treatment in the severe liver injury group(t were 8.411,7.250;P＜0.05),but no significant differences in Th22 and IL-22(t were-1.463,-2.038;P＞0.05).There was no significant difference in Th9 and IL-9 before and after treatment in acute liver failure group(t were 1.614,0.504;P＞0.05),but there was significant difference in Th22 and IL-22 before and after treatment(t were-3.825,-2.482;P＜0.05).There were no significant differences in Th9,Th22,IL-9 and IL-22 among different types of liver injury(F were 0.636,0.330,0.051,0.376;P＞0.05).Th9 was positively correlated with ALT(r=0.547,P＜0.001).Th22 was negatively correlated with TBIL(r=-0.657,P＜0.001)and ALT(r=-0.301,P=0.024).Conclusion Peripheral blood Th9,Th22 and related cytokines IL-9 and IL-22 are involved in the pathogenesis of DILI.Th9may play a pro-inflammatory role,while Th22may play an anti-inflammatory role,which may have nothing to do with the type of liver injury.

Objective    To investigate the clinical effect of three-port Da Vinci robot-assisted radical resection of lung cancer. Methods    The clinical data of patients who underwent Da Vinci robot-assisted radical resection of lung cancer in the Second Department of Thoracic Surgery, the First Affiliated Hospital of Xiamen University from April 2021 to March 2022 were retrospectively analyzed. According to the number of surgical ports, they were divided into two groups: a three-port group (three-port Da Vinci robot-assisted radical resection of lung cancer), and a four-port group (traditional Da Vinci robot-assisted radical resection of lung cancer). The operation time, intraoperative bleeding, lymphadenectomy, total thoracic drainage, extubation time, postoperative complications and postoperative pain of the two groups were compared and analyzed. Results    A total of 58 patients were included, including 19 males and 39 females, aged 31-79 years. There were 21 patients in the three-port group, and 37 patients in the four-port group. The visual analogue scores on the first and third day after the operation were 4.33±1.20 points and 2.24±0.77 points in the three-port group, and 5.11±1.22 points and 2.78±1.06 points in the four-port group, and there were statistical differences between the two groups (P<0.05). There was no significant difference between the two groups in terms of operation time, intraoperative bleeding, lymph node dissection, postoperative thoracic drainage, time of thoracic tube insertion or postoperative complications (P>0.05). Conclusion    Three-port Da Vinci robot-assisted radical resection of lung cancer can reduce the postoperative pain without increasing the operation difficulty and complications, and can be widely used in  the clinical practice.

Objective:To explore gene expression and metabolic capacity changes of brown adipose tissue(BAT)during different gestation periods.Methods:A normal pregnancy model was established using C57BL/6J mice, while infertile mice of the same age were served as the control group. The morphological alteration of BAT during pregnancy as well as the gene expression of uncoupling protein 1(UCP1) and other fat browning and mitochondrial marker genes were detected. Moreover, BATs from early and late gestation were selected to screen differentially expressed genes in relation to pregnancy progressing by RNA sequencing(RNA-seq), and gene ontology(GO) and Kyoto gene and gene sequencing(KEGG)were performed.Results:With pregnancy progressing, the size of BAT lipid droplets was substantially enlarged, UCP1 protein expression was decreased( P<0.01), and the fat browning marker genes(Ucp1, Dio2, and Pgc1α)and the mitochondrial marker gene CytC were downregulated( P<0.001). Additionally, a total of 1 298 distinct genes were identified by RNA-seq, 906 of which were upregulated and 392 were downregulated at later stage of pregnancy. GO and KEGG analyses revealed that the differentially expressed genes were mainly enriched in bioregulatory functional pathways such as lipid metabolism, sex steroid hormones, and inflammatory factors. Conclusion:BAT in mice showed larger lipid droplets and reduced thermogenic and metabolic capacity during late gestation, and BAT gene expression was significantly different in different periods of gestation, so reduced metabolic capacity of BAT may contribute to metabolic abnormality during pregnancy.