1.Research updates on potential mechanisms of family on physical influence activity among children and adolescents
FAN Huiying, ZHANG Jialin, MA Xiao
Chinese Journal of School Health 2025;46(3):452-456
Abstract
Family is the primary living place of children and adolescents, which has important impacts on children and adolescents physical activity. The article systematically reviews the research progress on potential mechanisms of family influence on physical activities of children and adolescents, focusing on the theoretical mechanism of intergenerational transmission on parent-child physical activities,which includes family s role in children s motivation and achievement for exercise behaviors, the integrative model of parental socialization influence and integrated model of physical activity parenting. It provides new perspectives for future research in related fields and gives more suggestions and reference for subsequent development of family enhancement programs and family-school collaborative programs.
2.Association of depressive symptom characteristics with sleep quality and psychological resilience in adolescents
WEI Jialin, MA Zhujiang, ELI Buzohre
Chinese Journal of School Health 2025;46(6):837-841
Objective:
To explore the latent class characteristics of depressive symptoms in adolescents and their association with sleep quality and psychological resilience, so as to provide references for identifying high risk groups and developing tiered intervention strategies.
Methods:
From March to May 2024, 3 155 students from grade 5-9 of five primary and secondary schools in Shihezi and Changji, Xinjiang, were selected via convenience sampling. Anonymous self report questionnaires were administered using 10 item Center for Epidemiological Studies Depression Scale (CES-D-10), 10 item Connor-Davidson Resilience Scale (CD-RISC-10), and Pittsburgh Sleep Quality Index (PSQI). Latent profile analysis (LPA) was conducted for depressive symptoms, and multivariate Logistic regression models were used to examine associations of latent classes with sleep quality and psychological resilience of adolescents.
Results:
The CES-D-10 score of adolescents was 7.0 (4.0, 12.0) , and the PSQI score was 5.0 (3.0, 7.0). LPA identified four subgroups: low depressive symptom group (57.7%), moderate depressive-typical symptom group (15.2%), moderate depressive-functional retention group (16.6%) and high depressive symptom group (10.5%). Logistic regression revealed that compared to the low symptom group, moderate depressive-typical symptom group, moderate depressive-functional retention group and high depressive symptom group exhibited poorer sleep quality ( OR =1.54,1.51,1.77) and lower psychological resilience ( OR =0.94,0.96,0.92) ( P <0.05).
Conclusion
Poor sleep quality and insufficient psychological resilience are universal risk factors for adolescent depression, with younger age associated with higher vulnerability.
3.Cortical Control of Itch Sensation by Vasoactive Intestinal Polypeptide-Expressing Interneurons in the Anterior Cingulate Cortex.
Yiwen ZHANG ; Jiaqi LI ; You WU ; Jialin SI ; Yuanyuan ZHU ; Meng NIAN ; Chen CHEN ; Ningcan MA ; Xiaolin ZHANG ; Yaoyuan ZHANG ; Yiting LIN ; Ling LIU ; Yang BAI ; Shengxi WU ; Jing HUANG
Neuroscience Bulletin 2025;41(12):2184-2200
The anterior cingulate cortex (ACC) has recently been proposed as a key player in the representation of itch stimuli. However, to date, little is known about the contribution of specific ACC interneuron populations to itch processing. Using c-Fos immunolabeling and in vivo Ca2+ imaging, we reported that both histamine and chloroquine stimuli-induced acute itch caused a marked enhancement of vasoactive intestinal peptide (VIP)-expressing interneuron activity in the ACC. Behavioral data indicated that optogenetic and chemogenetic activation of these neurons reduced scratching responses related to histaminergic and non-histaminergic acute itch. Similar neural activity and modulatory role of these neurons were seen in mice with chronic itch induced by contact dermatitis. Together, this study highlights the importance of ACC VIP+ neurons in modulating itch-related affect and behavior, which may help us to develop novel mechanism-based strategies to treat refractory chronic itch in the clinic.
Animals
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Pruritus/physiopathology*
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Vasoactive Intestinal Peptide/metabolism*
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Interneurons/metabolism*
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Gyrus Cinguli/metabolism*
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Mice
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Male
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Mice, Inbred C57BL
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Histamine
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Chloroquine
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Optogenetics
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Mice, Transgenic
4.Efficacy of tranexamic acid in reducing perioperative blood loss in craniomaxillofacial plastic and cosmetic surgery: a systematic review and meta-regression analysis
Hongmei MA ; Chenxi LI ; Yao LIU ; Jingfei HAN ; Jiaojun ZHAO ; Mingchao DING ; Jialin SUN
Chinese Journal of Blood Transfusion 2025;38(12):1770-1778
Objective: To comprehensively evaluate the clinical efficacy of a single dose of tranexamic acid (TXA) in reducing perioperative blood loss in patients undergoing craniomaxillofacial plastic and cosmetic surgery through meta-regression analysis. Methods: Embase, PubMed, Wanfang Data, VIP database, China National Knowledge Infrastructure (CNKI), the Chinese Clinical Trial Registry (ChiCTR) and Cochrane Central Register of Controlled Trials (CENTRAL) were electronically retrieved to collect clinical studies evaluating efficacy of perioperative TXA administration in patients undergoing craniomaxillofacial plastic and cosmetic surgery, from inception to August 2024. Quality assessment of randomized controlled trials (RCTs) was performed using Cochrane Collaboration's Risk of Bias Tool. Based on the results of methodological heterogeneity, corresponding meta-analyses were conducted using either random-effects or fixed-effects models in R programming software. Results: Thirty-one articles were included, involving 2 072 patients who underwent craniomaxillofacial plastic and cosmetic surgeries. Among these patients, 1 051 were in the TXA treatment group, and 1 021 were in the control group. The paired meta-analysis showed that compared with the control group, the use of TXA significantly reduced bleeding volume in perioperative patients [standardized mean difference (SMD)=-1.13; 95%CI (-1.47, -0.80), P<0.001]. Subgroup analysis revealed that TXA significantly reduced intraoperative bleeding volume in patients across different surgeries, with the order of efficacy as follows: orthognathic surgery [SMD=-1.44; 95%CI (-2.07, -0.80), P<0.001], cleft palate repair [SMD=-1.32; 95%CI (-2.14, -0.50), P<0.001], rhinoplasty [SMD=-0.97; 95%CI (-1.63, -0.30), P<0.001], and craniosynostosis [SMD=-0.96; 95%CI (-1.40, -0.53), P=0.040]. The result of the meta regression showed there was no significant difference in the hemostatic effect of TXA on patients with increasing doses (5, 10, 15, 20, 25 mg/kg) (P=0.650). Sensitivity analysis verified that the pooled values were stable and reliable. The Egger's test indicated a certain degree of publication bias (Z=-3.40, P<0.001). Conclusion: Existing evidence suggests that TXA effectively reduces perioperative blood loss in patients undergoing craniofacial plastic surgery, regardless of its dosage administered.
5.Retrospective analysis of infectious endophthalmitis secondary to ophthalmic surgery
Yin ZHANG ; Qingmin MA ; Jialin NIU ; Jianmin WANG
International Eye Science 2024;24(12):2016-2019
AIM: To investigate the pathogenic bacteria, drug resistance, therapy and prognosis of infectious endophthalmitis secondary to different ophthalmic surgeries.METHODS:A retrospective analysis was conducted on the clinical data of 37 patients(37 eyes)with infectious endophthalmitis secondary to different ophthalmic surgeries. All these patients were treated in the Ophthalmology Department of Hebei General Hospital between January 2009 and June 2023. The pathogenic bacteria, drug resistance and therapeutic effects of early intravitreal injection of antibiotics or vitrectomy combined with silicone oil filling were analyzed.RESULTS:There were 24 eyes following cataract phacoemulsification combined with intraocular lens implantation, 4 eyes following vitrectomy, 2 eyes following combination surgery for glaucoma and cataract, 2 eyes following anti-glaucoma surgery, 2 eyes following corneal transplantation, 2 eyes following anterior chamber puncture, and 1 eye following intravitreal injection among the 37 eyes with infectious endophthalmitis. Totally 37 samples of intraocular fluid were submitted for bacterial and fungal culture, and 20 strains of pathogenic bacteria were identified, including 17 Gram-positive bacteria, 2 Gram-negative bacteria, 1 fusarium, and 12 cases were staphylococcus epidermidis. According to the final therapy, 7 eyes only treated by intravitreal injection, 11 eyes treated by intravitreal injection and vitrectomy, and 19 eyes only treated by vitrectomy. At the last follow-up, the best corrected visual acuity(BCVA)was ≤0.05 in 15 eyes, 0.06-0.3 in 15 eyes, and 0.4-1.0 in 7 eyes. Compared to before treatment(no light perception - hand movement in 31 eyes, counting fingers -0.05 in 3 eyes, 0.06-0.3 in 3 eyes), the difference was statistically significant(P<0.001).CONCLUSION: For infectious endophthalmitis patients with relatively mild ocular manifestation and good initial visual acuity, intravitreal injection of antibiotics remains an economically viable and effective therapy option. Early vitrectomy may effectively prevent the progression of infectious endophthalmitis, reduce the number of surgeries, and significantly improve the vision outcomes.
6.Exploring Mechanism of Neferine in Promoting Vascular Regeneration Against Cerebral Ischemia Based on Mitochondrial MCU Channel
Qiman ZHANG ; Yanhua GAO ; Wenjie WU ; Wei YANG ; Chen LIU ; Shuting LI ; Bingjie CAI ; Jialin YANG ; Ying ZHANG ; Jing MA ; Shaojing LI
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(24):103-113
ObjectiveTo investigate the mechanism of neferine(Nef) in promoting vascular regeneration against cerebral ischemia through modulation of mitochondrial calcium uniporter(MCU) ion channel. MethodTaking the area of subintestinal vessels in microvascular deficiency zebrafish as an index, the vascular regenerative efficacy of Nef was evaluated, and the median effective concentration(EC50) was calculated. Rats were randomly divided into a sham operation group, a model group, a positive drug group(butylphthalide, 6 mg·kg-1), and Nef low, medium, and high dose groups(0.125, 0.625, 3.125 μg·kg-1). Except for the sham operation group, the middle cerebral artery occlusion(MCAO) model was established in other groups. After modeling, the groups were administered the corresponding dose of drugs by gavage, while the sham operation and model groups received equal volumes of saline, once a day for 7 consecutive days. Neurobehavioral scores were assessed for each group of rats, and the infarct rate of ischemic brain tissue was calculated by 2,3,5-triphenyltetrazolium chloride(TTC) staining. The regional cerebral blood flow(rCBF) of each group was measured using a speckle contrast imaging. Immunofluorescence and Western blot were conducted to detect the expression of vascular endothelial growth factor(VEGF), platelet endothelial cell adhesion molecule-1(CD31), and hypoxia-inducible factor-1α(HIF-1α) proteins in each group. Human umbilical vein endothelial cells(HUVECs) were divided into the normal group, model group, positive drug group(astragaloside Ⅳ, 10 μmol·L-1), and Nef group (32 nmol·L-1). In the verification of mitochondrial protection of Nef and its mechanism in promoting vascular regeneration, the spermine(MCU agonist) and Nef+spermine group were added. HUVECs model of oxygen-glucose deprivation(OGD) was established in all groups except the normal group, the cell viability was assessed using 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide(MTT) assay, and cell migration ability was evaluated through scratch and tube formation assays. Fluorescent probes(Rhod-2 AM, Fluo-3 AM, JC-1, Calcein AM) and a cellular energy metabolism analyzer were used to analyze the mitochondrial protective effects of Nef. Molecular docking was performed to predict the binding ability of Nef with MCU and HIF-1α, and Western blot was used to detect the effects of Nef on the protein expressions of MCU, B-cell lymphoma-2 associated X protein(Bax), Caspase-3 and HIF-1α in the OGD model HUVECs. ResultThe results of vascular regeneration in microvascular deficiency zebrafish showed that compared to the normal group, the area of subintestinal vessels in the model group significantly decreased(P<0.01). Compared to the model group, different concentrations of Nef could significantly increase the area of subintestinal vessels(P<0.01), with the maximum tolerated concentration of 10.24 μmol·L-1 and the EC50 of 0.23 μmol·L-1. Anti-cerebral ischemia results on MCAO rats showed that compared to the sham operation group, the model group had a significant decrease in rCBF and a significant increase in infarct rate, while CD31 expression significantly decreased(P<0.01), and VEGF and HIF-1α protein expressions significantly increased(P<0.05). Compared to the model group, the treated groups showed significant increases in rCBF, significant reductions in infarct volume, and significant increases in CD31, VEGF, and HIF-1α protein expression(P<0.01). Cell experiment results showed that compared to the normal group, the model group had decreased cell viability and migration ability, increased intracellular Ca2+ and mitochondrial Ca2+ levels, reduced mitochondrial permeability transition pore(MPTP) opening, and decreased mitochondrial energy metabolism capability, with increased expressions of MCU, Bax, Caspase-3 and HIF-1α proteins(P<0.05, P<0.01). Compared to the model group, the Nef group showed increased cell viability and migration ability, decreased intracellular Ca2+ and mitochondrial Ca2+ levels, increased MPTP opening, enhanced mitochondrial energy metabolism capability, decreased expressions of MCU, Bax and Caspase-3 proteins, and increased HIF-1α protein expression(P<0.05, P<0.01). ConclusionNef can stabilize mitochondrial membrane potential and inhibit mitochondrial apoptosis. By down-regulating the expression of MCU, it suppresses the activation of intracellular Bax and Caspase-3 while activating the HIF-1α signaling pathway, enhancing the expression of VEGF and CD31, thereby promoting vascular regeneration to treat ischemic brain injury.
7.Genetic variations and clinical phenotypic characteristics of epilepsy associated with CSNK2B gene mutations
Mengyue WANG ; Ting WANG ; Xiaoli ZHANG ; Yichao MA ; Jialin LI ; Miaomiao CHENG ; Ying YANG ; Xiaoli LI ; Yuehua ZHANG ; Tianming JIA
Chinese Journal of Applied Clinical Pediatrics 2024;39(7):523-527
Objective:To analyze the genetic variations and clinical phenotypic characteristics of epilepsy associated with CSNK2B gene mutations. Methods:A case series summary study.Clinical data of 15 epileptic children with CSNK2B gene mutations diagnosed and treated at the Third Affiliated Hospital of Zhengzhou University and the Peking University First Hospital from February 2016 to October 2023 were retrospectively analyzed.The clinical manifestations, genotypes, and electroencephalography (EEG) results were summarized. Results:Among the 15 children (8 boys and 7 girls), 14 cases had de novo mutations in the CSNK2B gene, and 1 case had hereditary variations.There were 5 missense variants, 4 splice-site variants, 3 frameshift variants, and 3 nonsense variants.Ten mutation sites had not been previously reported (c.326G>A/p.Cys109Tyr, c.485A>G/p.His162Arg, c.368-1G>A, c.464A>C/p.Asp155Ala, c.301T>G/p.Tyr101Asp, c.342T>A/p.Cys114*, c.198del/p.Asn67Thrfs*5, c.292-10T>G, c.573-574del/p.Lys191Asnfs*54, and c. 11C>G/p.Ser4*).The age of onset of seizures ranged from 14 days to 6 years, with 13 cases starting within 2 years old.The types of seizures included focal seizures in 9 cases, generalized tonic-clonic seizure (GTCS) in 5 cases, myoclonic seizures in 1 case, atonic seizures in 1 case, atypical absence seizures in 1 case, and epileptic seizures in 1 case.Three cases had multiple seizures, and 4 cases had cluster seizures.The EEG showed slow background activity in 1 case.Epileptiform discharges were observed in 13 cases during the interictal phase, including generalized discharges in 6 cases, multifocal discharges in 3 cases, and focal discharges in 5 cases.Two cases had normal EEG findings.Brain magnetic resonance imaging results were normal in 10 cases.The age of the last follow-up ranged from 1 year and 1 month to 13 years and 10 months.Seizures were controlled in 12 cases treated with 1 or 2 antiepileptic drugs, while seizures persisted in 2 cases treated with multiple antiepileptic drugs, and 1 case suffered no seizures for 1 year and 3 months, without antiepileptic drug treatment.Oxcarbazepine was effective in 5 cases (5/7), Valproate sodium was effective in 6 cases (6/8), and Levetiracetam was effective in 3 cases (3/9). Conclusions:CSNK2B gene mutations are mainly de novo mutations, and epilepsy triggered by them typically starts within 2 years of age.GTCS and focal seizures are the most common types.The seizures of most children are easily controlled with the effective treatment of Oxcarbazepine, Valproate sodium, and Levetiracetam.
8.Analysis of therapeutic effects of allogeneic hematopoietic stem cell transplantation in 12 patients with DEK-NUP214 fusion gene positive acute myeloid leukemia
Yuyan SHEN ; Donglin YANG ; Yi HE ; Aiming PANG ; Xin CHEN ; Qiaoling MA ; Rongli ZHANG ; Jialin WEI ; Weihua ZHAI ; Mingzhe HAN ; Erlie JIANG ; Sizhou FENG
Chinese Journal of Hematology 2024;45(4):383-387
Twelve DEK-NUP214 fusion gene-positive patients with acute myeloid leukemia and on allo-HSCT treatment at the Hematology Hospital of the Chinese Academy of Medical Sciences from November 2016 to August 2022 were included in the study, and their clinical data were retrospectively analyzed. The patients comprised five men and seven women with a median age of 34 (16-52) years. At the time of diagnosis, all the patients were positive for the DEK-NUP214 fusion gene. Chromosome karyotyping analysis showed t (6;9) (p23;q34) translocation in 10 patients (two patients did not undergo chromosome karyotyping analysis), FLT3-ITD mutation was detected in 11 patients, and high expression of WT1 was observed in 11 patients. Nine patients had their primary disease in the first complete remission state before transplantation, one patient had no disease remission, and two patients were in a recurrent state. All patients received myeloablative pretreatment, five patients received sibling allogeneic hematopoietic stem cell transplantation, and seven patients received haploid hematopoietic stem cell transplantation. The median number of mononuclear cells in the transplant was 10.87 (7.09-17.89) ×10 8/kg, and the number of CD34 + cells was 3.29 (2.53-6.10) ×10 6/kg. All patients achieved blood reconstruction, with a median time of 14 (10-20) days for neutrophil implantation and 15 (9-27) days for platelet implantation. The 1 year transplant-related mortality rate after transplantation was 21.2%. The cumulative recurrence rates 1 and 3 years after transplantation were 25.0% and 50.0%, respectively. The leukemia free survival rates were (65.6±14.0) % and (65.6±14.0) %, respectively. The overall survival rates were (72.2±13.8) % and (72.2±13.8) %, respectively.
9.Analysis of the efficacy and prognostic factors of allogeneic hematopoietic stem cell transplantation in patients with myelodysplastic syndrome with blastomycosis and survival comparison of different subtypes after the WHO 2022 reclassification
Hui WANG ; Runzhi MA ; Aiming PANG ; Donglin YANG ; Xin CHEN ; Rongli ZHANG ; Jialin WEI ; Qiaoling MA ; Weihua ZHAI ; Yi HE ; Erlie JIANG ; Mingzhe HAN ; Sizhou FENG
Chinese Journal of Hematology 2024;45(5):445-452
Objective:To evaluate the efficacy and prognostic factors of allogeneic hematopoietic stem cell transplantation (allo-HSCT) in patients with myelodysplastic syndrome accompanied by myelodysplasia (MDS-EB) and to compare the prognosis of different subtypes of patients classified by World Health Organization (WHO) 2022.Methods:A total of 282 patients with MDS-EB who underwent allo-HSCT at the Hematology Hospital of the Chinese Academy of Medical Sciences from October 2006 to December 2022 were included in the study. The WHO 2022 diagnostic criteria reclassified MDS into three groups: myelodysplastic tumors with type 1/2 of primitive cell proliferation (MDS-IB1/IB2, 222 cases), MDS with fibrosis (MDS-f, 41 cases), and MDS with biallelic TP53 mutation (MDS-biTP53, 19 cases). Their clinical data were retrospectively analyzed.Results:① The median age of 282 patients was 46 (15-66) years, with 191 males and 91 females. Among them, 118 (42% ) and 164 (58% ) had MDS-EB1 and MDS-EB2, respectively. ②Among the 282 patients, 256 (90.8% ) achieved hematopoietic reconstruction after transplantation, with 11 (3.9% ) and 15 (5.3% ) having primary and secondary implantation dysfunctions, respectively. The cumulative incidence of acute graft-versus-host disease (GVHD) 100 days post-transplantation was (42.6±3.0) %, and the cumulative incidence of grade Ⅱ-Ⅳ acute GVHD was (33.0±2.8) %. The cumulative incidence of chronic GVHD 1 year post-transplantation was (31.0±2.9) %. Post-transplantation, 128 (45.4% ), 63 (22.3% ), 35 (12.4% ), and 17 patients (6.0% ) developed cytomegalovirus infection, bacteremia, pulmonary fungal infection, and Epstein-Barr virus infection. ③The median follow-up time post-transplantation was 22.1 (19.2-24.7) months, and the 3-year overall survival (OS) and disease-free survival (DFS) rates were 71.9% (95% CI 65.7% -78.6% ) and 63.6% (95% CI 57.2% -70.7% ), respectively. The 3-year non-recurrent mortality rate (NRM) is 17.9% (95% CI 13.9% -22.9% ), and the 3-year cumulative recurrence rate (CIR) is 9.8% (95% CI 6.7% -13.7% ). The independent risk factors affecting OS post-transplantation include monocyte karyotype ( P=0.004, HR=3.26, 95% CI 1.46-7.29), hematopoietic stem cell transplantation complication index (HCI-CI) of ≥3 points ( P<0.001, HR=2.86, 95% CI 1.72-4.75), and the occurrence of acute gastrointestinal GVHD of grade Ⅱ-Ⅳ ( P<0.001, HR=5.94, 95% CI 3.50-10.10). ④The 3-year OS and DFS rates in the MDS-IB1/IB2 group post-transplantation were better than those in the MDS-biTP53 group [OS: 72.0% (95% CI 63.4% -80.7% ) vs 46.4% (95% CI 26.9% –80.1% ), P=0.020; DFS: 67.4% (95% CI 60.3% -75.3% ) vs 39.7% (95% CI 22.3% -70.8% ), P=0.015]. The 3-year CIR was lower than that of the MDS-biTP53 group [7.3% (95% CI 4.3% -11.4% ) vs 26.9% (95% CI 9.2% -48.5% ), P=0.004]. The NRM at 3 years post-transplantation in the MDS-IB1/IB2, MDS-f, and MDS-biTP53 groups were 16.7% (95% CI 12.1% -22.1% ), 20.5% (95% CI 9.4% -34.6% ), and 26.3% (95% CI 9.1% -47.5% ), respectively ( P=0.690) . Conclusion:Allo-HSCT is an effective treatment for MDS-EB, with monomeric karyotype, HCI-CI, and grade Ⅱ-Ⅳ acute gastrointestinal GVHD as independent risk factors affecting the patient’s OS. The WHO 2022 classification helps distinguish the efficacy of allo-HSCT in different subgroups of patients. Allo-HSCT can improve the poor prognosis of patients with MDS-f, but those with MDS-biTP53 have a higher risk of recurrence post-transplantation.
10.Clinical and genetic analysis of two children with TANC2 gene variants and a literature review
Manman CHU ; Dan XU ; Jiayang XIE ; Xiaoli ZHANG ; Mengyue WANG ; Jialin LI ; Yichao MA ; Xiaoli LI ; Junling WANG ; Tianming JIA
Chinese Journal of Medical Genetics 2024;41(10):1195-1200
Objective:To explore the clinical and genetic characteristics of two children with Neurodevelopmental disorders (NDDs) due to variants of TANC2 gene. Methods:Clinical data of two children who were admitted to the Third Affiliated Hospital of Zhengzhou University respectively in April 2020 and April 2021 were retrospectively analyzed. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. By using " TANC2 gene", "Neurodevelopmental disorders", "Nervous system development disorders", " TANC2" as the key words, similar cases were searched from the CNKI, Wanfang database platform and PubMed database, with the search time set as from the establishment of the database to December 2023. This study was approved by Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No. 2020-57). Results:Case 1 was a 1-year-and-3-month-old girl who had developed convulsions at 1 year old and had three episodes of seizures. Her epilepsy had resolved with the treatment of oxcarbazepine, which was stopped at the age of 2-year-and-7-month. Her language, movement and intelligence development were all normal. Case 2 was a 1-year-and-10-month-old boy, who had developed convulsions at 1 year old. His seizure type was myoclonus, and the frequency was dozens of times a day. His epilepsy had resolved with the treatment of sodium valproate. His language, movement and intelligence development was delayed for about half a year. Genetic analysis showed that both children had harbored novel variants of the TANC2 gene (NM_025185.4), including c. 3398G>A (p.Gly1133Glu) and c.2829+ 1G>A, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the former was rated as likely pathogenic (PS2+ PM2_Supporting+ PP3) and the latter was rated as pathogenic (PVS1+ PS2+ PM2_Supporting). Two previous reports were retrieved, which had involved 17 cases and 16 variants. Common features had included autism spectrum disorder (70.6%, 12/17), intellectual disability (94.1%, 16/17), language and motor retardation (88.2%, 15/17; 58.8%, 10/17), facial dysmorphism, epilepsy, ataxia, and thoracic and spinal deformities. Conclusion:Variants of the TANC2 gene probably underlay the epilepsy and development delay in these children with NDDs.


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