1.Influence of pterygium thickness and area on corneal refractive status
Xiaodong CHENG ; Jie WANG ; Song GAO ; Yanhong LU ; Yanbo MA ; Xinming CUI ; Xihui CHEN
International Eye Science 2026;26(1):152-156
AIM: To investigate the influence of pterygium thickness and area on corneal refractive status.METHODS: Prospective longitudinal study. A total of 60 cases(60 eyes)of pterygium patients admitted to our hospital from January 2024 to September 2024 were randomly selected. All patients underwent pterygium excision combined with pedicle conjunctival flap transplantation for treatment. Optical coherence tomography(OCT)was used to measure the preoperative thickness of patient's pterygium, and a digital slit lamp microscope was used to measure the area of pterygium. The corneal refractive status(degree of corneal astigmatism and average curvature)and changes in uncorrected visual acuity of patients before surgery, 1 d, 1, and 3 mo after surgery were compared. The relationship between preoperative thickness and area of pterygium in patients and corneal refractive status indicators at different postoperative time points were analyzed, and Logistic regression was used to analyze the impact of pterygium thickness and area on postoperative visual improvement in patients.RESULTS: All patients completed follow-up after surgery for 3 mo. At 3 mo after surgery, visual acuity improved in 21 eyes(35%). The results of bivariate Pearson correlation analysis showed that the thickness and area of pterygium positively correlated with the degree of corneal astigmatism and uncorrected visual acuity before surgery and 1 d, 1, and 3 mo after surgery(all P<0.05), and negatively correlated with the average corneal curvature before surgery and 1 d, 1, and 3 mo after surgery(all P<0.05). Logistic regression analysis showed that the thickness and area of pterygium before surgery, high degree of corneal astigmatism, and low uncorrected visual acuity(large LogMAR value)were all risk factors for poor postoperative visual improvement in patients(OR>1, P<0.05). The large average corneal curvature before surgery was a protective factor for poor postoperative visual improvement in patients(OR<1, P<0.05).CONCLUSION: The increase in thickness and area of pterygium can, to some extent, improve corneal astigmatism, reduce the average curvature of the cornea, and affect postoperative visual recovery.
2.Dynamics of eosinophil infiltration and microglia activation in brain tissues of mice infected with Angiostrongylus cantonensis
Fanna WEI ; Renjie ZHANG ; Yahong HU ; Xiaoyu QIN ; Yunhai GUO ; Xiaojin MO ; Yan LU ; Jiahui SUN ; Yan ZHOU ; Jiatian GUO ; Peng SONG ; Yanhong CHU ; Bin XU ; Ting ZHANG ; Yuchun CAI ; Muxin CHEN
Chinese Journal of Schistosomiasis Control 2025;37(2):163-175
Objective To investigate the changes in eosinophil counts and the activation of microglial cells in the brain tissues of mice at different stages of Angiostrongylus cantonensis infection, and to examine the role of microglia in regulating the progression of angiostrongyliasis and unravel the possible molecular mechanisms. Methods Fifty BALB/c mice were randomly divided into the control group and the 7-d, 14-d, 21-day and 25-d infection groups, of 10 mice in each group. All mice in infection groups were infected with 30 stage III A. cantonensis larvae by gavage, and animals in the control group was given an equal amount of physiological saline. Five mice were collected from each of infection groups on days 7, 14, 21 d and 25 d post-infection, and 5 mice were collected from the control group on the day of oral gavage. The general and focal functional impairment was scored using the Clark scoring method to assess the degree of mouse neurological impairment. Five mice from each of infection groups were sacrificed on days 7, 14, 21 d and 25 d post-infection, and 5 mice from the control group were sacrificed on the day of oral gavage. Mouse brain tissues were sampled, and the pathological changes of brain tissues were dynamically observed using hematoxylin and eosin (HE) staining. Immunofluorescence staining with eosinophilic cationic protein (ECP) and ionized calcium binding adaptor molecule 1 (Iba1) was used to assess the degree of eosinophil infiltration and the counts of microglial cells in mouse brain tissues in each group, and the morphological parameters of microglial cells (skeleton analysis and fractal analysis) were quantified by using Image J software to determine the morphological changes of microglial cells. In addition, the expression of M1 microglia markers Fcγ receptor III (Fcgr3), Fcγ receptor IIb (Fcgr2b) and CD86 antigen (Cd86), M2 microglia markers Arginase 1 (Arg1), macrophage mannose receptor C-type 1 (Mrc1), chitinase-like 3 (Chil3), and phagocytosis genes myeloid cell triggering receptor expressed on myeloid cells 2 (Trem2), CD68 antigen (Cd68), and apolipoprotein E (Apoe) was quantified using real-time quantitative reverse transcription PCR (RT-qPCR) assay in the mouse cerebral cortex of mice post-infection. Results A large number of A. cantonensis larvae were seen on the mouse meninges surface post-infection, and many neuronal nuclei were crumpled and deeply stained, with a large number of bleeding points in the meninges. The median Clark scores of mouse general functional impairment were 0 (interquartile range, 0), 0 (interquartile range, 0.5), 6 (interquartile range, 1.0), 14 (interquartile range, 8.5) points and 20 (interquartile range, 9.0) points in the control group and the 7-d, 14-d, 21-d and 25-d groups, respectively (H = 22.45, P < 0.01), and the median Clark scores of mouse focal functional impairment were 0 (interquartile range, 0), 2 (interquartile range, 2.5), 7 (interquartile range, 3.0), 18 (interquartile range, 5.0) points and 25 (interquartile range, 6.5) points in the control group and the 7-d, 14-d, 21-d and 25-d groups, respectively (H = 22.72, P < 0.01). The mean scores of mice general and focal functional impairment were all higher in the infection groups than in the control group (all P values < 0.05). Immunofluorescence staining showed a significant difference in the eosinophil counts in mouse brain tissues among the five groups (F = 40.05, P < 0.000 1), and the eosinophil counts were significantly higher in mouse brain tissues in the 14-d (3.08 ± 0.78) and 21-d infection groups (5.97 ± 1.37) than in the control group (1.00 ± 0.28) (both P values < 0.05). Semi-quantitative analysis of microglia immunofluorescence showed a significant difference in the counts of microglial cells among the five groups (F = 17.66, P < 0.000 1), and higher Iba1 levels were detected in mouse brain tissues in 14-d (5.75 ± 1.28), 21-d (6.23 ± 1.89) and 25-d infection groups (3.70 ± 1.30) than in the control group (1.00 ± 0.30) (all P values < 0.05). Skeleton and fractal analyses showed that the branch length [(162.04 ± 34.10) μm vs. (395.37 ± 64.11) μm; t = 5.566, P < 0.05] and fractal dimension of microglial cells (1.30 ± 0.01 vs. 1.41 ± 0.03; t = 5.266, P < 0.05) were reduced in mouse brain tissues in the 21-d infection group relative to the control group. In addition, there were significant differences among the 5 groups in terms of M1 and M2 microglia markers Fcgr3 (F = 48.34, P < 0.05), Fcgr2b (F = 55.46, P < 0.05), Cd86 (F = 24.44, P < 0.05), Arg1 (F = 31.18, P < 0.05), Mrc1 (F = 15.42, P < 0.05) and Chil3 (F = 24.41, P < 0.05), as well as phagocytosis markers Trem2 (F = 21.19, P < 0.05), Cd68 (F = 43.95, P < 0.05) and Apoe (F = 7.12, P < 0.05) in mice brain tissues. Conclusions A. cantonensis infections may induce severe pathological injuries in mouse brain tissues that are characterized by massive eosinophil infiltration and persistent activation of microglia cells, thereby resulting in progressive deterioration of neurological functions.
3.Application value of preoperative assessment of liver reserve function based on magnetic resonance cholangiopancreatography-related parameters and liver-to-muscle ratio in patients with hepatic space-occupying lesion
Journal of Clinical Hepatology 2025;41(9):1845-1852
ObjectiveTo establish a nomogram predictive model based on magnetic resonance cholangiopancreatography-related parameters and liver-to-muscle ratio, and to investigate the application value of this model in preoperative assessment of liver reserve function in patients with hepatic space-occupying lesion. MethodsClinical data and Gd-EOB-DTPA MRI imaging data were collected from 112 patients with hepatic space-occupying lesion who were hospitalized and scheduled for surgery in Wuming Hospital of Guangxi Medical University from April 2022 to April 2024. According to the degree of liver injury, the patients were divided into Child-Pugh class A group (65 patients with compensated liver function) and Child-Pugh class B+C group (47 patients with decompensated liver function, including 42 patients with Child-Pugh class B liver function and 5 patients with Child-Pugh class C liver function). The two groups of patients were measured in terms of liver-to-muscle ratio, relative signal intensity of the common bile duct, and bile duct score in different phases of contrast-enhanced CT scan, and univariate and multivariate Logistic regression analyses were used to identify independent predictive factors and establish a nomogram model. In addition, the receiver operating characteristic (ROC) curve, the calibration curve, and the decision curve were plotted to assess the discriminatory ability, accuracy, and clinical application value of the model. The independent-samples t test was used for comparison of normally distributed continuous data between two groups, and the Mann-Whitney U test was used for comparison of data with skewed distribution between two groups; the chi-square test was used for comparison of categorical data between two groups. ResultsThere were significant differences between the two groups in liver-to-muscle ratio at 5 minutes (Z=-3.99, P0.001), 10 minutes (Z=-4.39, P0.001), 15 minutes (Z=-4.23, P0.001), and 20 minutes (Z=-5.40, P0.001) during the hepatobiliary phase, the relative enhancement degree of the common bile duct (Z=-4.85, P0.001), and bile duct score (t=7.99, P0.001). The multivariate Logistic regression analysis showed that liver-to-muscle ratio at 10 minutes during the hepatobiliary phase (odds ratio [OR]=0.63, 95% confidence interval [CI]: 0.44 — 0.90, P0.05), liver-to-muscle ratio at 20 minutes during the hepatobiliary phase (OR=0.38, 95%CI: 0.17 — 0.82, P0.05), and bile duct score (OR=0.17, 95%CI: 0.07 — 0.39, P0.05) were independent influencing factors for the preoperative diagnosis of liver function decompensation. The nomogram model established based on liver-to-muscle ratio at 10 minutes during the hepatobiliary phase, liver-to-muscle ratio at 20 minutes during the hepatobiliary phase, and bile duct score had an area under the ROC curve of 0.905 (95%CI: 0.849 — 0.960), with a sensitivity of 78.7% with a specificity of 89.2%. ConclusionThe nomogram model established based on the liver-to-muscle ratio at 10 and 20 minutes during the hepatobiliary phase and bile duct score can effectively assess the status of liver reserve function in patients with hepatic space-occupying lesion before surgery.
4.Erratum: Author correction to "SHP2 inhibition triggers anti-tumor immunity and synergizes with PD-1 blockade" Acta Pharm Sin B 9 (2019) 304-315.
Mingxia ZHAO ; Wenjie GUO ; Yuanyuan WU ; Chenxi YANG ; Liang ZHONG ; Guoliang DENG ; Yuyu ZHU ; Wen LIU ; Yanhong GU ; Yin LU ; Lingdong KONG ; Xiangbao MENG ; Qiang XU ; Yang SUN
Acta Pharmaceutica Sinica B 2025;15(5):2810-2812
[This corrects the article DOI: 10.1016/j.apsb.2018.08.009.].
5.TSZAF monomer combination downregulates the Wnt/β-catenin signaling pathway and inhibits neutrophil recruitment to prevent lung cancer metastasis.
Pan YU ; Jialiang YAO ; Long ZHANG ; Yanhong WANG ; Xinyi LU ; Jiajun LIU ; Zujun QUE ; Yao LIU ; Qian BA ; Jiwei LIU ; Yan WU ; Jianhui TIAN
Chinese Journal of Natural Medicines (English Ed.) 2025;23(9):1069-1079
Metastasis remains the primary cause of cancer-related mortality worldwide. Circulating tumor cells (CTCs) represent critical targets for metastasis prevention and treatment. Traditional Chinese medicine may prevent lung cancer metastasis through long-term intervention in CTC activity. Tiao-Shen-Zhi-Ai Formular (TSZAF) represents a Chinese medicine compound prescription utilized clinically for lung cancer treatment. This study combined three principal active ingredients from TSZAF into a novel TSZAF monomer combination (TSZAF mc) to investigate its anti-metastatic effects and mechanisms. TSZAF mc demonstrated significant inhibition of proliferation, migration, and invasion in CTC-TJH-01 and LLC cells, while inducing cellular apoptosis in vitro. Moreover, TSZAF mc substantially inhibited LLC cell growth and metastasis in vivo. Mechanistically, TAZSF mc significantly suppressed the Wnt/β-catenin signaling pathway and CXCL5 expression in lung cancer cells and tissues. Additionally, TAZSF mc notably reduced neutrophil infiltration in metastatic lesions. These findings indicate that TSZAF mc inhibits lung cancer growth and metastasis by suppressing the Wnt/β-catenin signaling pathway and reducing CXCL5 secretion, thereby decreasing neutrophil recruitment and infiltration. TSZAF mc demonstrates potential as an effective therapeutic agent for lung cancer metastasis.
Lung Neoplasms/genetics*
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Wnt Signaling Pathway/drug effects*
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Animals
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Humans
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Drugs, Chinese Herbal/pharmacology*
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Mice
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Neoplasm Metastasis/prevention & control*
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Cell Proliferation/drug effects*
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Cell Line, Tumor
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Neutrophil Infiltration/drug effects*
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Down-Regulation/drug effects*
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Cell Movement/drug effects*
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beta Catenin/genetics*
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Apoptosis/drug effects*
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Mice, Inbred C57BL
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Male
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Neoplastic Cells, Circulating/drug effects*
6.Current research status of Gd-EOB-DTPA-enhanced MRI in evaluating liver reserve function in residual liver tissue after liver tumor surgery
Journal of Clinical Hepatology 2024;40(2):380-385
As a non-invasive, simple, and reproducible examination, Gd-EOB-DTPA-enhanced magnetic resonance imaging (MRI) has an important application value in evaluating liver reserve function. Currently in clinical practice, Gd-EOB-DTPA-enhanced MRI is mainly used to measure liver parenchymal signal intensity parameters, magnetic resonance relaxation time parameters, biliary tract enhancement parameters, and liver volume parameters to evaluate the liver reserve function of patients. In recent years, the use of Gd-EOB-DTPA-enhanced MRI in predicting liver reserve function in residual liver tissue after liver tumor surgery has become one of the hotspots in clinical research, and certain progress has been made in related studies in China and globally. This article reviews the research advances in recent years.
7.National bloodstream infection bacterial resistance surveillance report (2022) : Gram-negative bacteria
Zhiying LIU ; Yunbo CHEN ; Jinru JI ; Chaoqun YING ; Qing YANG ; Haishen KONG ; Haifeng MAO ; Hui DING ; Pengpeng TIAN ; Jiangqin SONG ; Yongyun LIU ; Jiliang WANG ; Yan JIN ; Yuanyuan DAI ; Yizheng ZHOU ; Yan GENG ; Fenghong CHEN ; Lu WANG ; Yanyan LI ; Dan LIU ; Peng ZHANG ; Junmin CAO ; Xiaoyan LI ; Dijing SONG ; Xinhua QIANG ; Yanhong LI ; Qiuying ZHANG ; Guolin LIAO ; Ying HUANG ; Baohua ZHANG ; Liang GUO ; Aiyun LI ; Haiquan KANG ; Donghong HUANG ; Sijin MAN ; Zhuo LI ; Youdong YIN ; Kunpeng LIANG ; Haixin DONG ; Donghua LIU ; Hongyun XU ; Yinqiao DONG ; Rong XU ; Lin ZHENG ; Shuyan HU ; Jian LI ; Qiang LIU ; Liang LUAN ; Jilu SHEN ; Lixia ZHANG ; Bo QUAN ; Xiaoping YAN ; Xiaoyan QI ; Dengyan QIAO ; Weiping LIU ; Xiusan XIA ; Ling MENG ; Jinhua LIANG ; Ping SHEN ; Yonghong XIAO
Chinese Journal of Clinical Infectious Diseases 2024;17(1):42-57
Objective:To report the results of national surveillance on the distribution and antimicrobial resistance profile of clinical Gram-negative bacteria isolates from bloodstream infections in China in 2022.Methods:The clinical isolates of Gram-negative bacteria from blood cultures in member hospitals of national bloodstream infection Bacterial Resistant Investigation Collaborative System(BRICS)were collected during January 2022 to December 2022. Antibiotic susceptibility tests were conducted by agar dilution or broth dilution methods recommended by Clinical and Laboratory Standards Institute(CLSI). WHONET 5.6 and SPSS 25.0 software were used to analyze the data.Results:During the study period,9 035 strains of Gram-negative bacteria were collected from 51 hospitals,of which 7 895(87.4%)were Enterobacteriaceae and 1 140(12.6%)were non-fermenting bacteria. The top 5 bacterial species were Escherichia coli( n=4 510,49.9%), Klebsiella pneumoniae( n=2 340,25.9%), Pseudomonas aeruginosa( n=534,5.9%), Acinetobacter baumannii complex( n=405,4.5%)and Enterobacter cloacae( n=327,3.6%). The ESBLs-producing rates in Escherichia coli, Klebsiella pneumoniae and Proteus spp. were 47.1%(2 095/4 452),21.0%(427/2 033)and 41.1%(58/141),respectively. The prevalence of carbapenem-resistant Escherichia coli(CREC)and carbapenem-resistant Klebsiella pneumoniae(CRKP)were 1.3%(58/4 510)and 13.1%(307/2 340);62.1%(36/58)and 9.8%(30/307)of CREC and CRKP were resistant to ceftazidime/avibactam combination,respectively. The prevalence of carbapenem-resistant Acinetobacter baumannii(CRAB)complex was 59.5%(241/405),while less than 5% of Acinetobacter baumannii complex was resistant to tigecycline and polymyxin B. The prevalence of carbapenem-resistant Pseudomonas aeruginosa(CRPA)was 18.4%(98/534). There were differences in the composition ratio of Gram-negative bacteria in bloodstream infections and the prevalence of main Gram-negative bacteria resistance among different regions,with statistically significant differences in the prevalence of CRKP and CRPA( χ2=20.489 and 20.252, P<0.001). The prevalence of CREC,CRKP,CRPA,CRAB,ESBLs-producing Escherichia coli and Klebsiella pneumoniae were higher in provinicial hospitals than those in municipal hospitals( χ2=11.953,81.183,10.404,5.915,12.415 and 6.459, P<0.01 or <0.05),while the prevalence of CRPA was higher in economically developed regions(per capita GDP ≥ 92 059 Yuan)than that in economically less-developed regions(per capita GDP <92 059 Yuan)( χ2=6.240, P=0.012). Conclusions:The proportion of Gram-negative bacteria in bloodstream infections shows an increasing trend,and Escherichia coli is ranked in the top,while the trend of CRKP decreases continuously with time. Decreasing trends are noted in ESBLs-producing Escherichia coli and Klebsiella pneumoniae. Low prevalence of carbapenem resistance in Escherichia coli and high prevalence in CRAB complex have been observed. The composition ratio and antibacterial spectrum of bloodstream infections in different regions of China are slightly different,and the proportion of main drug resistant bacteria in provincial hospitals is higher than those in municipal hospitals.
8.Status and risk factors of intra-abdominal hypertension in children after liver transplantation
Fangyan LU ; Yanhong DAI ; Zhiru LI ; Li JI ; Yan WANG ; Huafen WANG
Chinese Journal of Nursing 2024;59(12):1484-1489
Objective To understand the status of intra-abdominal hypertension(IAH)in children after liver transplantation,and to analyze the risk factors,to provide references for clinical medical staff to identify high-risk early,and formulate the prevention and intervention program of IAH after liver transplantation.Methods A prospective cohort study was conducted,and the clinical data of 208 children who received liver transplantation from October 2021 to June 2023 in a tertiary hospital in Zhejiang Province were enrolled.The status of IAH after liver transplantation was described,and participants were divided into 2 groups according to transbladder monitoring intra-abdominal pressure levels.Children with ≥10 mmHg(1 mmHg=0.133 kPa)was classified as an intra-abdominal hypertension group,while those with<10 mmHg was classified as a non-intra-abdominal hypertension group.Results There were 51 cases(24.52%)which had IAH,including 12 cases(23.53%)of grade I to Ⅱ and 39 cases(76.47%)of grade Ⅲ to Ⅳ in 208 intra-abdominal hypertension in children after liver transplantation.Binary Logistic regression analysis showed that the graft to recipient weight ratio(OR=1.391),duration of postoperative mechanical ventilation(OR=1.006),and postoperative central venous pressure(OR=1.375)were independent risk factors for IAH(P<0.05).Conclusion The incidence of IAH in children after liver transplantation were high.Greater graft to recipient weight ratio,longer mechanical ventilation time,higher central venous pressure could increase the risk of IAH.During clinical practice,more emphasis should be strengthened on the abdominal pressure dynamic monitoring and providing timely intervention to reduce the occurrence of IAH,and improving the prognosis of children after liver transplantation.
9.Construction and application of a nurse-led intra-abdominal pressure management program in children undergoing liver transplantation
Zhiru LI ; Fangyan LU ; Li JI ; Yanhong DAI ; Wanying ZHANG ; Huafen WANG
Chinese Journal of Nursing 2024;59(19):2319-2325
Objective In this research,we constructed a nurse-led intra-abdominal pressure(IAP)management program in children undergoing liver transplantation,and explored its clinical application effect.Methods Based on literature review,semi-structured interviews,and expert meetings,a nurse-led program for IAP management is constructed.By convenience sampling method,162 children admitted to the pediatric liver transplant intensive care unit of a tertiary hospital in Zhejiang Province from January to December 2023 were selected.The experimental group implemented a nurse-led IAP management program,while the control group received routine postoperative care after liver transplantation.The average IAP values during ICU period,incidence and grading of intra-abdominal hypertension(IAH),duration of mechanical ventilation,and length of ICU stay were compared between 2 groups.Results Finally,the IAP management program in children undergoing liver transplantation included 4 first-level items,10 second-level items and 20 third-level items.During the application of this program,4 cases dropped,and 78 cases were finally included in the experimental group and 80 cases in the control group.After the intervention,the IAP value in the experimental group was(8.63±2.40)mmHg(1 mmHg=0.133 kPa),lower than(9.23±3.19)mmHg in the control group,but there was no statistically significant difference between the 2 groups(P=0.186).The incidence of IAH in the experimental group was 23.07%,lower than 41.25%in the control group.The difference between the 2 groups was statistically significant(P=0.015).13 cases(16.67%)in the experimental group developed grade Ⅰ IAH,while 22 cases(27.50%)in the control group;5 cases(6.41%)in the experimental group developed grade Ⅱ IAH,while 9 cases(11.25%)in the control group;no cases in the experimental group developed grade Ⅲ IAH,while 2 cases(2.50%)in the control group.There was no statistically significant difference between the 2 groups(P>0.05).The mechanical ventilation time in the experimental group was 3.00(1.00,13.25)hours,and 7.50(1.00,27.75)hours in the control group.The difference between the 2 groups was statistically significant(P=0.034).The length of ICU stay in the experimental group was 6.00(4.00,8.25)days,and 5.00(3.00,8.00)days hours in the control group.The difference between the 2 groups was statistically significant(P=0.061).Conclusion The nurse-led IAP management program in children undergoing liver transplantation can effectively reduce the incidence of IAH,shorten the duration of mechanical ventilation.
10.Clinical phenotype and genetic analysis of a rare case with 6p duplication and terminal deletion syndrome
Yanhong YU ; Jian LU ; Hong LI ; Yingying GAO ; Xia YE ; Xuzhuo ZHANG ; Jingtian LU ; Juan QIU
Chinese Journal of Medical Genetics 2024;41(9):1117-1123
Objective:To explore the genetic basis for a child with developmental delay and intellectual deficit (DD/ID).Methods:A child who was admitted to the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City on June 3, 2023 due to DD/ID, craniofacial malformations, and recurrent infections of upper respiratory tract was selected as the study subject. G-banded chromosomal karyotyping was carried out for the child and her parents. Low-depth genome-wide copy number variation sequencing (CNV-seq) and chromosomal microarray analysis (CMA) were used to screen for genome-wide copy number variation (CNV), and fluorescence in situ hybridization (FISH) was used to verify the origin of candidate CNV. This study was approved by the Maternal and Child Health Care Hospital of Longhua District of Shenzhen City(Ethics No. 2023052504). Results:The child, an 8-year-old girl, had featured unexplained growth and intellectual development delay, multiple craniofacial malformations, and recurrent infections of the upper respiratory tract. She was found to have a karyotype of 46, XX, der(6)add(6)(q23), while both of her parents were normal. Both CNV-seq and CMA showed that the child has harbored a 21.38 Mb interstitial duplication at 6p25.3p22.3 and a 0.78 Mb terminal deletion at 6p25. FISH verified that both the duplication and deletion had occurred de novo. Conclusion:The abnormal phenotype of the child may be attributed to the 6p duplication and terminal deletion.

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