1.Evaluation of early binocular visual function after implantable collamer lens V4c implantation in patients with high myopia
Kaili TANG ; Jing WANG ; Zhenbo ZHAO ; Dong HAN ; Yuxi DING ; Jinsong ZHANG ; Liwei MA
International Eye Science 2024;24(4):634-640
AIM: To evaluate the binocular visual function in high myopia patients after the implantation of implantable collamer lens(ICL)V4c.METHODS: A total of 35 cases(70 eyes)that received binocular ICL implantation at our hospital from May 2019 to May 2021 were enrolled in this prospective study. Binocular full-range visual acuity, contrast sensitivity, stereopsis, mesopic vision and glare sensitivity, and monocular wavefront and the quality of vision questionnaire were assessed before the surgery and at 1 mo postoperatively.RESULTS: At 1 mo postoperatively, 35 cases(100%)had binocular uncorrected distance visual acuity(UDVA)≤0.00(LogMAR), 16 cases(46%)had binocular UDVA≥preoperative corrected distance visual acuity(CDVA). Binocular UDVA and uncorrected intermediate visual acuity(UIVA,80 cm)were improved compared to preoperative CDVA and distance-corrected intermediate visual acuity(DCIVA,80 cm)(all P<0.05).While there were no differences in the binocular postoperative UIVA(60 cm)and preoperative DCIVA(60 cm),and uncorrected near visual acuity(UNVA,40 cm)and preoperative distance-corrected near visual acuity(DCNVA,40 cm)(all P>0.05). The binocular contrast sensitivity was significantly improved postoperatively(P=0.001), and the postoperative binocular mesopic vision, glare sensitivity(no glare/glare)and binocular stereopsis(5 m/40 cm)had no differences(all P>0.05). The postoperative total higher-order aberration, trefoil aberration, coma and spherical aberration were increased, besides the median of total coma in the right eye with a pupil diameter of 3.0 mm was decreased after surgery. The mean total score of quality of vision questionnaire was significantly increased from 54.87 preoperatively to 80.92 after implantation(P<0.05), with high satisfaction and no obvious visual disturbance in patients.CONCLUSION: Although the monocular high-order aberrations increased in the early stage after ICL V4c binocular implantation in patients with high myopia, the binocular visual function was improved.
2.Family analysis of primary microcephaly caused by complex heterozygous variants of the RTTN gene and literature review
Chenyue ZHAO ; Jinsong JIANG ; Lixue ZHANG ; Min GUO ; Jingbo GAO ; Xiayu SUN ; Rong GUO ; Hongyong LU ; Jianrui WU ; Huiqin XUE
Chinese Journal of Child Health Care 2024;32(2):212-217
【Objective】 To analyze the genetic variation characteristics and clinical phenotypes of a family with primary microcephaly (MCPH) caused by RTTN gene variation, and to provide reference for genetic counseling and prenatal diagnosis. 【Methods】 Clinical data of the three patients (including 2 fetuses and 2-year-old proband,and one fetus with clinical diagnosis) and their parents were collected and analyzed. Two of the children and their parents were tested by trio whole exome sequencing (trio-WES), sanger sequencing validation sites, and the hazard of their compound heterozygous variants was predicted. Literature review was conducted through domestic and international databases to collect reported RTTN gene mutation cases. 【Results】 Three patients in this family had anomalies of the septum pellucidum, hypoplasia of the corpus callosum and other brain malformations during fetal period. The proband (G2) and fetus (G3) showed intrauterine growth retardation and MCPH in late pregnancy; besides, G2 was born with global developmental delay. Trio-WES detected a c.2101(exon16)C>T(p.Arg701Ter,1526) nonsense and a c.2863(exon22)G>A(p.Glu955Lys)missense in the RTTN gene of G2 and G3, which were inherited from their father and mother, forming a compound heterozygous variant. According to the American College of Medical Genetics and Genomics (ACMG) variant classification guidelines, two variants were likely to be pathogenic (LP) and uncertain significance (VUS). Among them, c.2863(exon22)G>A was a newly discovered missense, which was predicted by the software to be harmful to the gene product. 【Conclusions】 Complex heterozygous variations of RTTN gene (c.2101C>T and c.2863G>A) are the genetic cause of MCPH in this family. This report has enriched the variation spectrum of RTTN gene, provided guidance for prenatal diagnosis and reproduction of this family, as well as material and reference for further understanding of the diseases caused by this gene mutation.
3.Epidural Labor Analgesia: Comfort and Safety Run in Parallel, with Teaching and Quality Control Complementing Each Other
Yu ZHANG ; Mengyun ZHAO ; Lijian PEI ; Yahong GONG ; Xia RUAN ; Yuguan ZHANG ; Di XIA ; Zhilong LU ; Zhanjie ZHANG ; Jiong ZHOU ; Chenwei FU ; Jinsong GAO ; Yuguang HUANG
Medical Journal of Peking Union Medical College Hospital 2024;15(2):246-250
Epidural labor analgesia aims to provide effective medical services to alleviate labor pain in parturients, while adhering to the principles of voluntary participation and clinical safety. In 2018, Peking Union Medical College Hospital(PUMCH)became one of the first pilot units for labor analgesia in China, and has achieved satisfactory results in high-quality development of labor analgesia. This article mainly introduces the achievements and experience of labor analgesia at PUMCH, including: (1) prioritizing maternal and infant safety, arranging personnel rationally, and developing standardized treatment processes through multidisciplinary collaboration to ensure safe and comfortable childbirth; (2) leveraging the hospital's comprehensive capabilities in emergency treatment, and improving collaborative rescue plans for critically ill parturients and newborns; (3) implementing advanced teaching methods to effectively train and conduct simulated drills for labor analgesia and rescue of critically ill parturients; (4) conducting patient education and informative lectures to help parturients acquire a scientific understanding of labor analgesia. We hope that this experience can provide reference and inspiration for other hospitals.
4.Comparison of a single palmar lateral transverse approach versus the modified Henry approach in locking plate fixation of distal radius fractures
Xing ZHAO ; Peng LIU ; Shengkang XU ; Jinsong ZHANG ; Bin LUO ; Wei XIONG ; Meng ZHAO
Chinese Journal of Orthopaedic Trauma 2024;26(2):171-175
Objective:To compare the clinical efficacy between a single palmar lateral transverse approach and the modified Henry approach in the locking plate fixation for distal radius fractures.Methods:A retrospective study was conducted to analyze the data of 82 patients with distal radius fracture who had undergone locking plate fixation through either a single palmar lateral approach or the modified Henry approach between January 2016 and December 2022 at Department of Traumatic Orthopaedics, Taihe Hospital, Affiliated to Hubei University of Medicine. There were 25 males and 57 females, with an age of (53.8±12.7) years. Based on the difference in surgical approach, the patients were divided into a single transverse approach group ( n=42) and a modified Henry approach group ( n=40). The 2 groups were compared in terms of injury cause, injury location, time from injury to surgery, AO fracture classification, tourniquet time during surgery, incision length, fracture reduction, Patient and Observer Scar Assessment Scale (PSAS & OSAS) and Disability of the Arm, Shoulder, and Hand (DASH) score at the last follow-up, and complications after surgery. Results:There were no statistically significant differences in the baseline characteristics between the 2 groups, indicating comparability ( P>0.05). All patients were followed up for (8.2±3.5) months. Follow-ups revealed one case of injury to the palmar cutaneous branch of the median nerve but no other complications like infection, non-union, internal fixation failure, or tendon injury in the single transverse approach group. The single transverse approach group was significantly superior over the modified Henry approach group in incision length [(2.4±0.9) cm versus (5.3±1.6) cm], OSAS (8.1±4.2 versus 10.3±5.7), and PSAS (10.1±5.8 versus 14.7±6.4) ( P<0.05). There were no significant differences between the 2 groups in tourniquet time, fracture reduction quality, and DASH score at the last follow-up ( P>0.05). Conclusion:In locking plate fixation for distal radius fractures, in comparison with the modified Henry approach, a single palmar lateral approach is more minimally invasive so that more aesthetically pleasing outcomes can be achieved to facilitate patients' rapid return to work and society.
5.Correlation between the varicella incidence and temperature in Minhang District, Shanghai
Xia ZHAO ; Linjuan DONG ; Yibin ZHOU ; Zhaowen ZHANG ; Jinsong CUI ; Jialei FAN ; Chenxi XU ; Dunjia WANG
Shanghai Journal of Preventive Medicine 2024;36(8):753-759
ObjectiveTo explore the exposure-lag-response relationship between temperature and risk of varicella incidence,and to provide a scientific evidence for early warning and precise prevention and control of varicella epidemic. MethodsDaily varicella cases and daily meteorological data were collected in Minhang District, Shanghai from 2010 to 2022. A distributed lag nonlinear model was used to determine the exposure-lag-response relationship between temperature and risk of varicella incidence. Furthermore, effect of temperature on the incidence risk was determined across different age groups. ResultsIn 2010‒2022, the total number of notified varicella cases was 26 207 in Minhang District, with the highest incidence in the group aged 3‒14 years (50.35%). The seasonal pattern of daily varicella cases showed a double peak. The large peak was found in November and December, followed by a smaller peak in May and June. Moreover, the distributed lag nonlinear model showed a unimodal curve in the relationship between temperature and varicella incidence. The RR value reached its maximum peak of 1.90 (95%CI: 1.25‒2.87) at 7 ℃. A reverse U-shape was found in the lag-response curves between temperature and varicella incidence. Furthermore, the effect of temperature on the varicella incidence showed a unimodal pattern in the varicella cases aged 3‒14 years. The RR value reached its peak at 11 ℃ (RR=2.89, 95%CI: 1.33‒6.24). In contrast, the effect of temperature on the varicella incidence in the cases aged 15 years and above showed a unimodal pattern, with RR value reaching the peak at 5 ℃ (RR=2.14, 95%CI: 1.33‒3.44). ConclusionThe unimodal curve is found in the relationship between temperature and varicella incidence. Low temperature is associated with increased risk of varicella incidence. Children aged 3‒14 years are more susceptible to the effect of temperature on the varicella incidence.
6.Accuracy and clinical value of artificial intelligence-assisted diagnosis of coronary CT angiography images in patients with acute coronary syndrome
Genyi FENG ; Gang WANG ; Jinsong LI ; Jiangang WANG ; Honghong GUO ; Xueyan LI ; Qing HU ; Zhiming ZHAO ; Chao HE
Journal of Practical Radiology 2024;40(7):1079-1082
Objective To explore the accuracy and clinical application value of artificial intelligence(AI)-based coronary computed tomography angiography(CCTA)in the evaluation of coronary artery stenosis in patients with acute coronary syndrome(ACS).Methods Fifty-four patients with suspected ACS who underwent CCTA examination and invasive coronary angiography(ICA)within 72 h were retrospectively selected.The CCTA images of all patients were processed by AI(AI group)and manual post-pro-cessing(manual group),respectively.The image quality,work efficiency and detection rate of coronary artery stenosis were compared between AI group and manual group.With ICA results as the gold standard,the sensitivity,specificity,positive predictive value,negative predictive value and accuracy of AI in the diagnosis of ACS patients with coronary artery stenosis(≥50%)in CCTA were analyzed,and the consistency of AI and ICA examination results was tested.Results The image quality of CCTA in AI group(grade Ⅰ 27.8%)was better than that in manual group(grade Ⅰ 14.8%),but there was no statistical difference between the two groups(X2=2.707,P>0.05).The average diagnosis time of AI group(89.67 s±33.21 s)was significantlyshorter than that of manual group(813.33 s±301.84 s)and the difference was statistically significant(t=-17.512,P<0.001),and the average time gain rate was 88.97%.There was no statistical difference in the detection rate of coronary artery stenosis(≥50%)between AI group and manual group(x2=0.003,P>0.05).The sensitivity,specificity,positive predictive value,negative predictive value,and accuracy of AI in diagnosis of ACS were 87.60%,96.44%,80.30%,97.92%,and 95.19%,respectively,which were significantly consistent with the results of ICA examina-tion(Kappa=0.810,P<0.05).Conclusion AI-assisted diagnosis can correctly identify the coronary artery tree with better image,significantly shorten the diagnosis time of CCTA in ACS patients with high accuracy,and can provide a strong basis for the early treat-ment of patients with acute chest pain.
7.Reference values of carotid intima-media thickness and arterial stiffness in Chinese adults based on ultrasound radio frequency signal: A nationwide, multicenter study
Changyang XING ; Xiujing XIE ; Yu WU ; Lei XU ; Xiangping GUAN ; Fan LI ; Xiaojun ZHAN ; Hengli YANG ; Jinsong LI ; Qi ZHOU ; Yuming MU ; Qing ZHOU ; Yunchuan DING ; Yingli WANG ; Xiangzhu WANG ; Yu ZHENG ; Xiaofeng SUN ; Hua LI ; Chaoxue ZHANG ; Cheng ZHAO ; Shaodong QIU ; Guozhen YAN ; Hong YANG ; Yinjuan MAO ; Weiwei ZHAN ; Chunyan MA ; Ying GU ; Wu CHEN ; Mingxing XIE ; Tianan JIANG ; Lijun YUAN
Chinese Medical Journal 2024;137(15):1802-1810
Background::Carotid intima-media thickness (IMT) and diameter, stiffness, and wave reflections, are independent and important clinical biomarkers and risk predictors for cardiovascular diseases. The purpose of the present study was to establish nationwide reference values of carotid properties for healthy Chinese adults and to explore potential clinical determinants.Methods::A total of 3053 healthy Han Chinese adults (1922 women) aged 18-79 years were enrolled at 28 collaborating tertiary centers throughout China between April 2021 and July 2022. The real-time tracking of common carotid artery walls was achieved by the radio frequency (RF) ultrasound system. The IMT, diameter, compliance coefficient, β stiffness, local pulse wave velocity (PWV), local systolic blood pressure, augmented pressure (AP), and augmentation index (AIx) were then automatically measured and reported. Data were stratified by age groups and sex. The relationships between age and carotid property parameters were analyzed by Jonckheere-Terpstra test and simple linear regressions. The major clinical determinants of carotid properties were identified by Pearson’s correlation, multiple linear regression, and analyses of covariance.Results::All the parameters of carotid properties demonstrated significantly age-related trajectories. Women showed thinner IMT, smaller carotid diameter, larger AP, and AIx than men. The β stiffness and PWV were significantly higher in men than women before forties, but the differences reversed after that. The increase rate of carotid IMT (5.5 μm/year in women and 5.8 μm/year in men) and diameter (0.03 mm/year in both men and women) were similar between men and women. For the stiffness and wave reflections, women showed significantly larger age-related variations than men as demonstrated by steeper regression slopes (all P for age by sex interaction <0.05). The blood pressures, body mass index (BMI), and triglyceride levels were identified as major clinical determinants of carotid properties with adjustment of age and sex. Conclusions::The age- and sex-specific reference values of carotid properties measured by RF ultrasound for healthy Chinese adults were established. The blood pressures, BMI, and triglyceride levels should be considered for clinical application of corresponding reference values.
8.GSH-px,SOD,MDA and pathological tissue changes in contrast nephropathy model
Gaopeng JIA ; Qiuyu CHEN ; Weizhong HUANGFU ; Zihao ZHAO ; Jinsong BAI ; Yunnuo YANG ; Yue ZHANG
Chongqing Medicine 2024;53(15):2241-2246
Objective To study the changes of blood glutathione peroxidase (GSH-px),superoxide dis-mutase (SOD),malondialdehyde (MDA) and pathological tissues in the rat contrast-induced nephropathy (CIN) model,and to determine the role of oxidation mechanism in CIN.Methods A total of 40 adult male SD rats were selected and divided into three big groups and five small groups.After constructing the model,six rats with good status were taken from each group for conducting the experiment.The serum GSH-px,SOD and MDA levels were measured,the renal tissue biopsy was performed and the morphological changes of kid-ney cells were compared.Results There was no statistically significant difference in the baseline data among the blank control group,the control group and the experimental group (P>0.05).There was no statistically significant difference in serum GSH-px,SOD and MDA levels before model construction,at 24,48 h after model construction between the blank control group and the control group (P>0.05).There were statistical-ly significant differences in serum GSH-px,SOD and MDA levels of the experimental group between before model construction and after model construction (P<0.05).There was no statistically significant difference in serum GSH-px,SOD and MDA level in the experimental group between at 24 h after modelling and 48 h af-ter modeling (P>0.05).There was no statistically significant difference in serum GSH-px,SOD and MDA levels at 24 h after modeling among the three groups (P>0.05).There were statistically significant differ-ences in serum GSH-px,SOD and MDA levels at 48 h after modeling among the three groups and their pairs (P<0.05).The pathological sections of the blank control group and control group showed no obvious abnor-mal changes in glomeruli,renal tubule and renal interstitium.Renal interstitial fibrosis and inflammatory cell infiltration were seen after 24 h in the experimental group,but there was no obvious change in the renal tu-bules.After 48 h,moderate focal-like atrophy of renal tubules,epithelial cell granule degeneration and vacuolar changes were obviously seen.Conclusion The oxidative stress mechanism plays a role in CIN.The contrast a-gent acute renal injury mainly acts on the renal tubules and renal interstitium,and there is no obvious damage to the glomeruli.
9.Mechanisms by which Mettl3 regulates pericyte-myofibroblast transdifferentiation through PI3K/AKT signaling pathway
Yi DENG ; Yan WANG ; Pingping HE ; Jiao LI ; Weiwei LIU ; Jinsong YUAN ; Hongyan ZHAO ; Zhijiang LIU ; Changyin SHEN ; Bei SHI
Chinese Journal of Cardiology 2024;52(7):814-826
Objective:To investigate the role and underlying mechanisms of methyltransferase (Mettl) 3 in the process of angiotensin Ⅱ (Ang Ⅱ)-induced pericyte-to-myofibroblast transdifferentiation and renal fibrosis.Methods:C57BL/6J mice were used, in cell experiments, mouse renal pericytes were isolated and cultured using magnetic bead sorting. These pericytes were then induced to transdifferentiate into myofibroblasts with 1×10 6 mmol/L Ang Ⅱ, which was the Ang Ⅱ group, while pericytes cultured in normal conditions served as the control group. Successful transdifferentiation was verified by immunofluorescence staining, Western blotting, and real-time reverse transcription PCR (RT-qPCR) for α-smooth muscle actin (α-SMA). The levels of m6A modifications and related enzymes (Mettl3, Mettl14), Wilms tumor 1-associated protein (WTAP), fat mass and obesity protein (FTO), ALKBH5, YTHDF1, YTHDF2, YTHDC1, YTHDC2, YTHDC3 were assessed by Dot blot, RT-qPCR and Western blot. Mettl3 expression was inhibited in cells using lentivirus-mediated Mettl3-shRNA transfection, creating sh-Mettl3 and Ang Ⅱ+sh-Mettl3 groups, while lentivirus empty vector transfection served as the negative control (Ang Ⅱ+sh-NC group). The impact of Ang Ⅱ on pericyte transdifferentiation was observed, and the expression of downstream phosphatidylinositol 3-kinase (PI3K)/AKT signaling pathway proteins, including PI3K, AKT, phosphorylated AKT at serine 473 (p-AKT (S473)), and phosphorylated AKT at threonine 308 (p-AKT (T308)), were examined. PI3K gene transcription was inhibited by co-culturing cells with actinomycin D, and the half-life of PI3K mRNA was calculated by measuring residual PI3K mRNA expression over different co-culture time. The reversibility of Mettl3 inhibition on Ang Ⅱ-induced pericyte-to-myofibroblast transdifferentiation was assessed by adding the AKT activator SC79 to the Ang Ⅱ+sh-Mettl3 group. In animal experiments, mice were divided into these groups: sham group (administered 0.9% sterile saline), Ang Ⅱ group (infused with Ang Ⅱ solution), sh-Mettl3 group (injected with Mettl3 shRNA lentivirus solution), Ang Ⅱ+sh-Mettl3 group (infused with Ang Ⅱ solution and injected with Mettl3 shRNA lentivirus solution), and Ang Ⅱ+sh-Mettl3+SC79 group (administered Ang Ⅱ solution and Mettl3 shRNA lentivirus, with an additional injection of SC79). Each group consisted of six subject mice. Blood pressure was measured using the tail-cuff method before and after surgery, and serum creatinine, urea, and urinary albumin levels were determined 4 weeks post-surgery. Kidney tissues were collected at 28 days and stained using hematoxylin-eosin (HE) and Masson′s trichrome to assess the extent of renal fibrosis. Results:Primary renal pericytes were successfully obtained by magnetic bead sorting, and intervened with 1×10 6 mmol/L Ang Ⅱ for 48 hours to induce pericyte-to-myofibroblast transdifferentiation. Dot blot results indicated higher m6A modification levels in the Ang Ⅱ group compared to the control group ( P<0.05). RT-qPCR and Western blot results showed upregulation of Mettl3 mRNA and protein levels in the Ang Ⅱ group compared to the control group (both P<0.05). In the Ang Ⅱ+sh-Mettl3 group, Mettl3 protein expression was lower than that in the Ang Ⅱ group, with reduced expression levels of α-SMA, vimentin, desmin, fibroblast agonist protein (FAPa) and type Ⅰ collagen (all P<0.05). Compared to the control group, PI3K mRNA expression level was elevated in the Ang Ⅱ group, along with increased p-AKT (S473) and p-AKT (T308) expressions. In the Ang Ⅱ+sh-Mettl3 group, PI3K mRNA expression and p-AKT (S473) and p-AKT (T308) levels were decreased (all P<0.05). The half-life of PI3K mRNA was shorter in the Ang Ⅱ+sh-Mettl3 group than that in the Ang Ⅱ+sh-NC group (2.34 h vs. 3.42 h). The ameliorative effect of Mettl3 inhibition on Ang Ⅱ-induced pericyte-to-myofibroblast transdifferentiation was reversible by SC79. Animal experiments showed higher blood pressure, serum creatinine, urea, and 24-hour urinary protein levels, and a larger fibrosis area in the Ang Ⅱ group compared to the sham group (all P<0.05). The fibrosis area was smaller in the Ang Ⅱ+sh-Mettl3 group than that in the Ang Ⅱ group ( P<0.05), but increased again upon addition of SC79. Conclusion:Mettl3-mediated RNA m6A epigenetic regulation is involved in Ang Ⅱ-induced pericyte-to-myofibroblast transdifferentiation and renal fibrosis, potentially by affecting PI3K stability and regulating the PI3K/AKT signaling pathway.
10.Genetic analysis of a fetus with cryptophthalmos due to variants of FREM2 gene
Hongda CHEN ; Shan LI ; Jinsong GAO ; Geping CUI ; Tao YANG ; Xiuli ZHAO
Chinese Journal of Medical Genetics 2024;41(5):606-611
Objective:To explore the genetic etiology of a fetus with cryptophthalmos detected by prenatal ultrasonography.Methods:A fetus undergoing induced labor at 32nd gestational week due to absence of bilateral eye fissures detected by prenatal ultrasonography in January 2017 was selected as the study subject. Umbilical cord blood sample from the fetus and peripheral blood samples from its parents were collected for the extraction of genomic DNA. Pathogenic variants were screened through whole exome sequencing (WES) and verified by Sanger sequencing. Pathogenicity of candidate variants was verified by bioinformatic analysis and protein structure simulation. Based on the results of genetic testing, prenatal diagnosis was provided to the couple upon their subsequent pregnancy.Results:The couple had four adverse pregnancies previously. The aborted fetus was the fifth, with fused bilateral upper and lower eyelids, poorly developed eyeballs, adhesion of the cornea with the upper eyelid, low-set ears, and abnormal plantar creases, and was diagnosed with cryptophthalmos. WES and Sanger sequencing revealed that the fetus has harbored compound heterozygous variants of the FREM2 gene, namely c. 4537G>A (p.D1513N) and c.7292C>T (p.T2431M). Both variants were unreported associated with cryptophthalmos previously. Protein structure simulation showed that they may lead to loss of hydrogen bonds in the protein product. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were predicted to be likely pathogenic (PM1_Supporting+ PM2_Supporting+ PM5+ PP3+ PP4; PM2_Supporting+ PM3+ PP3+ PP4). The mother was performed prenatal diagnosis in her sixth pregnancy based on the variants detected in this family, and delivered a daughter with normal phenotype. Conclusion:The FREM2: c. 4537G>A and c. 7292C>T compound heterozygous variants probably underlay the pathogenesis of cryptophthalmos in this fetus. Above finding has enriched the mutational spectrum of the FREM2 gene.

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