1.Clinical observation of lamellar keratectomy and corneal collagen crosslinking in the treatment of superficial fungal keratitis
Limei LIU ; Xinhong HAN ; Chunxiu MING ; Pengfei ZHANG ; Chao WANG
International Eye Science 2025;25(5):802-807
AIM:To evaluate the clinical efficacy of lamellar keratectomy and corneal collagen crosslinking(LKCCC)in treating superficial fungal keratitis.METHODS: Retrospective analysis. Totally 79 patients(79 eyes)with superficial fungal keratitis who underwent LKCCC in our hospital from January 2014 to October 2023 were included. After admission, routine antifungal drug treatment for 7 d showed no obvious improvement or progressive aggravation. The maximum diameter of corneal lesions in all patients was ≤7 mm, the maximum depth was no more than 50% of the corneal thickness at the location, and the remaining healthy corneal thickness was ≥300 μm. The follow-up time was 90 to 112 d.RESULTS:Among the included 79 eyes, the lesions were located in the central region of the cornea in 6 eyes, in the paracentral region in 61 eyes, and in the peripheral region in 12 eyes. Hypopyon was observed in 5 cases. LKCCC was successfully administered in 79 eyes, cured in 76 eyes(96%), and failed in 3 eyes(4%). The healing time of corneal epithelium in 76 cured eyes was 3-15 d, of which 51 eyes(67%)healed within 7 d and 24 eyes(32%)healed within 3 d. The uncorrected visual acuity(UCVA)and best corrected visual acuity(BCVA)of 76 eyes of cured patients were statistically significant compared with those preoperatively(P<0.0167). Two of the 3 failed eyes were located at the edge of the lesion and recovered after re-keratectomy. One eye was located in the center of the lesion and recovered after being covered by bulbar conjunctival flap. At the last follow-up, no other complications were observed in all patients except superficial cloud and thinning of cornea.CONCLUSION:LKCCC is a rapid and effective treatment for superficial fungal keratitis and can be considered a new treatment option.
2.Effect of optimized intense pulsed light on meibomian gland morphology and function in patients with meibomian gland dysfunction
Yifan ZHOU ; Pengfei ZHANG ; Lifeng LIU ; Xinhong HAN ; Chao WANG ; Limei LIU
International Eye Science 2025;25(6):968-974
AIM: To assess the impact of optimized pulsed technology(OPT)on the morphological and functional changes of meibomian glands in patients with meibomian gland dysfunction(MGD).METHODS: This prospective case-control study enrolled 60 MGD patients(60 right eyes)treated at Weifang Eye Hospital from September 2023 to February 2024. Patients were categorized into mild, moderate, and severe groups based on the extent of meibomian gland loss, with 20 cases(20 eyes)per group. Treatments consisted of bilateral OPT combined with meibomian gland massages, administered biweekly over four sessions. Ocular surface function indicators including the ocular surface disease index(OSDI), corneal fluorescein staining(CFS), non-invasive average tear break-up time(NIBUTav), and non-invasive tear meniscus height(NITMH), as well as meibomian gland function parameters such as meibomian gland expressibility score(MGES)and meibomian gland secretion score(MGYSS)were observed and recorded before treatment and at 3 mo after final treatment. Cellular-level assessments using in vivo confocal microscopy(IVCM)examined meibomian gland acinar unit density(MGAUD), inflammatory cell density(ICD), meibomian gland acinar longest diameter(MGALD)and meibomian gland acinar shortest diameter(MGASD).RESULTS: At baseline, no significant differences were found in NITMH across groups(P>0.05). Statistical significance were observed in NIBUTav, MGES, MGYSS, MGAUD, MGALD, and MGASD(all P<0.05). Compared to the mild group, the moderate and severe groups showed significant differences in OSDI, CFS, and ICD(all P<0.05), though no significant differences existed between moderate and severe groups(all P>0.05). At 3 mo after treatment, all groups showed no significant differences in NITMH(all P>0.05). All parameters improved significantly in the mild group(all P<0.05); all indicators improved in the moderate group(P>0.05), except for MGASD before and after treatment(all P<0.05); significant improvements were noted in OSDI, CFS, and NIBUTav in the severe group(all P<0.05), while MGES and MGYSS did not differ significantly(all P>0.05). IVCM parameters(MGAUD, ICD, MGALD, and MGASD)showed no significant change in the severe group(all P>0.05).CONCLUSION:OPT effectively enhances various ocular surface functions and improves gland expressibility and secretion quality in mild to moderate MGD cases, while also positively impacting certain cellular parameters. In severe cases, where most acinar functions are lost and structural reversibility is limited, OPT can still mitigate MGD symptoms and decelerate disease progression.
3.Mechanism of Rhei Radix et Rhizoma-Coptidis Rhizoma Improving Liver Insulin Resistance in db/db Mice by Regulating AMPK/ULK1/Beclin1 Pathway
Hongzhang ZHAO ; Min BAI ; Zhandong WANG ; Bing SONG ; Chao GUO ; Xinhong LIU ; Qiong WANG ; Runze YANG ; Yongfeng WANG ; Yanying ZHANG
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(8):9-16
ObjectiveThis study aims to examine the effect of Rhei Radix et Rhizoma-Coptidis Rhizoma on reducing insulin resistance in db/db mice by regulating the adenylate activated protein kinase (AMPK)/UNC-51-like kinase 1 (ULK1)/key molecule of autophagy, benzyl chloride 1 (Beclin1) pathway and elucidate the underlying mechanism. MethodSixty 6-week-old male db/db mice were studied. They were randomly divided into the model group, metformin group (0.26 g·kg-1), and low-, middle-, and high-dose groups (2.25, 4.5, 9 g·kg-1) of Rhei Radix et Rhizoma-Coptidis Rhizoma. A blank group of db/m mice of the same age was set, with 12 mice in each group. After eight weeks of continuous intragastric administration, the blank group and model group received distilled water intragastrically once a day. The survival status of the mice was observed, and fasting blood glucose (FBG) was measured using a Roche blood glucose device. Fasting serum insulin (FINS) was measured using an enzyme-linked immunosorbent assay, and the insulin resistance index (HOMA-IR) was calculated. Hematoxylin-eosin (HE) staining was performed to observe the pathological changes in the liver of the mice. The protein expression levels of AMPK, Beclin1, autophagy associated protein 5 (Atg5), and p62 in liver tissue were determined by using Western blot. The protein expression levels of autophagy associated protein 1 light chain 3B (LC3B) and ULK1 in liver tissue were determined using immunofluorescence. Real-time fluorescence quantitative PCR (Real-time PCR) was used to measure mRNA expression levels of AMPK, Beclin1, Atg5, ULK1, and p62. ResultCompared with the blank group, the model group exhibited a significant increase in body mass (P<0.01). Additionally, the levels of FBG, FINS, and HOMA-IR significantly changed (P<0.01). The structure of liver cells was disordered. The protein expression levels of AMPK, Beclin1, and Atg5 in liver tissue were significantly decreased (P<0.01), while the expression level of p62 protein was significantly increased (P<0.01). The expression levels of mRNA and proteins were consistent. Compared with the model group, the body mass of the metformin group and high and medium-dose groups of Rhei Radix et Rhizoma-Coptidis Rhizoma was significantly decreased (P<0.05). FBG, FINS, and HOMA-IR were significantly decreased (P<0.05,P<0.01). After treatment, the liver structure damage in each group was alleviated to varying degrees. The protein expressions of AMPK, Beclin1, Atg5, LC3B, and ULK1 were increased (P<0.05,P<0.01), while the protein expression of p62 was decreased (P<0.01). The expression levels of mRNA and proteins were generally consistent. ConclusionThe combination of Rhei Radix et Rhizoma-Coptidis Rhizoma can effectively improve liver insulin resistance, regulate the AMPK autophagy signaling pathway, alleviate insulin resistance in db/db mice, and effectively prevent the occurrence and development of type 2 diabetes.
4.The preparation and reliability and validity test of the knowledge-attitude-practice questionnaire for pediatric ICU nurses to prevent unplanned extubation of tracheal intubation
Hang XIAO ; Dan LIU ; Yangyan LI ; Xinhong CHEN
Chongqing Medicine 2024;53(10):1531-1536
Objective To investigate the knowledge,attitude and behavior of pediatric ICU nurses on preventing unplanned extubation(UEX).Methods The pre-test paper was prepared by the combination of literature review and expert consultation.The convenience sampling method was used to select 237 pediatric ICU nurses from four tertiary hospitals(including one children's hospital and three general hospitals)to con-duct a survey.The project analysis and reliability and validity test of the pre-test questionnaire were carried out to form a formal questionnaire.Results The questionnaire included 41 items,including 13 items of knowl-edge dimension,nine items of attitude dimension and 19 items of behavior dimension.The average content va-lidity index of knowledge,attitude and behavior dimensions was 0.921,0.996 and 0.998,respectively,and the content validity index of each item was 0.852-1.000.The Cronbach's α coefficients of knowledge,behavior and attitude were 0.911,0.946 and 0.944 respectively,and the total Cronbach's α coefficient of the question-naire was 0.953.The split-half reliability of knowledge,behavior and attitude dimensions was 0.710,0.931 and 0.859,and the total split-half reliability of the questionnaire was 0.695.Conclusion The questionnaire of knowledge,attitude and behavior of pediatric ICU nurses in preventing tracheal intubation UEX has good reli-ability and validity,and can be used as an evaluation tool for pediatric ICU nurses'cognition and behavior compliance in preventing tracheal intubation UEX.
5.Analysis of efficacy and safety of 532-nm picosecond laser in the treatment of early-stage facial seborrheic keratosis
Xinhong GE ; Yingdong MA ; Yaning JIAO ; Lingling LIU ; Mei ZHOU ; Wei ZI ; Bowen LI
Chinese Journal of Dermatology 2024;57(4):359-362
Objective:To evaluate the efficacy and safety of 532-nm picosecond laser in the treatment of early-stage facial seborrheic keratosis.Methods:A total of 95 patients with early-stage facial seborrheic keratosis were prospectively enrolled from the Department of Dermatology, General Hospital of Ningxia Medical University between December 2020 and September 2022. All the patients received a session of 532-nm picosecond laser treatment, and were followed up for 6 months. A 4-point scale was used to evaluate the overall improvement of skin lesions for assessing the clinical efficacy. A VISIA skin detector was used to quantitatively determine the characteristic counts, absolute scores, and percentiles of brown spots before and after treatment, and the paired sample t-test was used to compare the quantitative indicators of brown spots before and after treatment. The patients′ pain grades were evaluated, and adverse reactions were recorded. Results:All the 95 patients with early-stage facial seborrheic keratosis received a session of 532-nm picosecond laser treatment, and completed a 6-month follow-up. All the patients achieved over 25% regression of skin lesions in the treatment area, of whom 10 received mild improvement, 17 received favorable improvement, and 68 received marked improvement, with the response rate being 89.47% (85/95). The examination with the VISIA skin detector showed that the characteristic counts (195.19 ± 51.06) and absolute scores (28.80 ± 6.20 points) of brown spots significantly decreased, while the percentiles of brown spots (38.48% ± 10.80%) significantly increased at 6 months after treatment compared with the corresponding baseline indicators (211.48 ± 50.94, 35.16 ± 6.84 points, 30.61% ± 10.27%, t = 12.73, 16.90, -15.73, respectively, all P < 0.001). All the patients experienced varying degrees of pain during the treatment, with the pain scores being 2 - 6 (3.64 ± 1.67) points, but all of them could tolerate the pain and completed the treatment. Temporary postinflammatory hyperpigmentation and hypopigmentation occurred in 9 (9.47%) and 4 (4.21%) patients respectively, and the skin color restored to normal during the 6-month follow-up. Conclusion:The 532-nm picosecond laser was safe and effective for the treatment of early-stage facial seborrheic keratosis.
6.Clinical and neurophysiological analysis of neuralgic amyotrophy
Mingxia ZHU ; Hongyue MA ; Xiuli LI ; Jingyu MOU ; Hongjing LIU ; Jing CHEN ; Guangju QI ; Xinhong FENG
Chinese Journal of Neurology 2024;57(12):1353-1361
Objective:To analyze the clinical characteristics and neurophysiological features of patients with neuralgic amyotrophy (NA) and explore their neurological function status.Methods:Clinical data and neurophysiological findings of 90 patients diagnosed with NA at Beijing Tsinghua Changgung Hospital from September 2016 to January 2024 were collected and their clinical phenotypes and neurophysiological characteristics were systematically summarized and analyzed.Results:Among the 90 patients, males accounted for 60.0% (54 cases) and females accounted for 40.0% (36 cases). The duration of the disease was 12 (3, 36) months (ranged from 1 week to 5 years). The onset age of the patients was 58 (30, 70) (21-87) years. Unilateral involvement was noted in 94.4% (85/90) of patients, exhibiting a left-to-right ratio of 1∶1.3, while only 5.6% (5/90) had bilateral involvement. The majority of patients demonstrated a monophasic clinical course with a recurrence rate of just 2.2% (2/90). The primary clinical manifestations included upper limb pain in 70.0% (63/90) of patients, which progressed to muscle weakness and atrophy within 1 day to 1 month, whereas 30.0% (27/90) of patients without significant pain symptoms. Lesions predominantly affected the upper trunk of the brachial plexus, which accounted for 64.4% (58/90) of patients. Distal nerve injuries in the upper limb were observed in 14.4% (13/90) of patients, with 6.7% (6/90) demonstrating isolated anterior interosseous nerve involvement and another 6.7% (6/90) exhibiting isolated posterior interosseous nerve involvement; 1 case had concurrent anterior and posterior interosseous nerve damage. Additionally, 1 case presented with bilateral phrenic nerve involvement, and another patient had isolated posterior tibial nerve injury. Electrophysiological evaluations of patients with NA revealed that axonal damage to motor nerve fibers was a hallmark feature of the condition. Among patients undergoing motor nerve conduction studies, 68.8% (55/80) exhibited decreased compound muscle action potential amplitude, and 31.3% (25/80) had prolonged latency. Sensory nerve conduction was normal in 60.0% (48/80) of patients, while abnormalities included prolonged latency in 15.0% (12/80), reduced amplitude in 12.5% (10/80), slowed conduction velocity in 8.8% (7/80), and absent waveforms in 3.8% (3/80) of patients. The rates of abnormal nerve conduction findings in motor nerves were the highest in the suprascapular nerve (70.6%, 36/51), followed by the axillary nerve (58.3%, 35/60), musculocutaneous nerve (50.7%, 35/69), long thoracic nerve (6/17), and both anterior and posterior interosseous nerves (7.5%, 6/80 each). In sensory nerves, abnormalities were predominantly noted in the lateral antebrachial cutaneous nerve (30.0%, 12/40). Needle electromyography demonstrated neurogenic damage, most frequently affecting the infraspinatus muscle (69.2%, 18/26), biceps brachii (68.1%, 49/72), and deltoid muscle (65.3%, 47/72). The positive rate of magnetic resonance neurography (MRN) for NA was 62.1% (41/66), among which 63.4% (26/41) showed localized swelling of the brachial plexus, 51.2% (21/41) exhibited T 2 hyperintensity, and 4.9% (2/41) demonstrated denervated changes in the muscles. The positive rate of ultrasound for NA was 71.1% (59/83), with 91.5% (54/59) showing nerve swelling and 8.5% (5/59) exhibiting hourglass constriction .Conclusions:NA is a peripheral neuropathy characterized by spontaneous pain, limb weakness, and (or) muscle atrophy primarily. Its clinical phenotype predominantly involves damage to the upper trunk of the brachial plexus, which can also manifest as isolated mononeuropathy. Neurophysiological findings most commonly reveal the neurogenic damage to the muscles innervated by the upper trunk of the brachial plexus, mainly characterized by the axonal damage to the motor nerves, and pure motor nerve damage may also be observed. MRN and neuroultrasound can assist in qualitative diagnosis.
7.The GRACE risk score predicts no-reflow and MACE in patients with STEMI undergoing PCI
Zhaofei WAN ; Sumei ZHANG ; Yan FAN ; Xiaojun LIU ; Xinhong WANG ; Jiahong XUE ; Qiangsun ZHENG
Journal of Xi'an Jiaotong University(Medical Sciences) 2023;44(2):251-256
【Objective】 Coronary no-reflow during percutaneous conranary intervention (PCI) often results in the failure of ischemic myocardial reperfusion and major adverse cardiovascular events (MACE). The present study sought to evaluate whether the GRACE risk score can predict coronary no-reflow in STEMI patients undergoing PCI. 【Methods】 We consecutively recruited 1 118 patients with STEMI who were admitted to Gansu Provincial People’s Hospital and The First Affiliated Hospital of Xi’an Jiaotong University from January 2009 to December 2011. Main demographic data, cardiovascular risk factors, blood lipid and other biochemical indicators were recorded. Coronary angiography was performed by a radial artery approach using the standard Judkins technique. Coronary no-reflow was evaluated by at least two independent experienced cardiologists. The GRACE risk score was calculated with a computer program. All the cases were followed up by medical records, face-to-face interviews or telephone calls. Finally, we analyzed the predictive value of the GRACE risk score for coronary non-reflow and MACE in STEMI patients undergoing PCI. 【Results】 During a median period of 36 months, 58 of the 1 118 patients (5.2%) were lost to follow-up. Of the remaining 1 060 patients, 118 (11.1%) had no-reflow and 147 (13.9%) had MACE. The GRACE score was higher in patients with no-reflow than those without no-reflow. Multivariate logistic regression established that the GRACE score was an independent predictor for coronary no-reflow (OR=1.034; P=0.002). And multivariate Cox analysis showed the GRACE score was an independent predictor of MACE. The area under the ROC curve for coronary no-reflow and MACE was 0.719 and 0.697, respectively. Kaplan-Meier analysis showed that the probability of rehospitalization for heart failure, reinfarction, all-cause death and cumulative cardiovascular events increased with the increase of the GRACE risk score. 【Conclusion】 The GRACE risk score is a readily available predictive scoring system for coronary no-reflow and MACE in STEMI patients.
8.Mechanism of Dahuang Mudantang in Improving Pancreatic Injury in Rats with Acute Pancreatitis of Dampness-heat in Large Intestine Syndrome Based on Network Pharmacology and Experimental Verification
Qiong WANG ; Yongfeng WANG ; Yanying ZHANG ; Bing SONG ; Chao GUO ; Xinhong LIU ; Min BAI ; Zhandong WANG ; Linlin WEN ; Hongzhang ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2023;29(20):61-68
ObjectiveTo reveal the intervention effect of Dahuang Mudantang on pancreatic injury in rats with acute pancreatitis (AP) of dampness-heat in large intestine syndrome and explore its possible mechanism based on network pharmacology. MethodNinety-six SPF-grade Wistar rats were randomly divided into the following six groups: a blank group, a model group, low-, medium-, and high-dose Dahuang Mudantang groups (3.5, 7, and 14 g·kg-1), and a Qingyi Lidan granules group (3 g·kg-1), with 16 rats in each group. The AP model of dampness-heat in large intestine syndrome was induced in rats except for those in the blank group by "high-temperature and high-humidity environment + high-sugar and high-fat diet + retrograde injection of 5% sodium taurocholate into the pancreaticobiliary duct". The blank and model groups received equal volumes of distilled water by gavage, while the treatment groups were administered Dahuang Mudantang or Qingyi Lidan granules 1 hour before modeling, and 12 and 24 hours after modeling. Samples were collected 1 hour after the last administration. The general conditions of the rats were observed. The AP model of dampness-heat in large intestine syndrome was evaluated. Serum amylase (AMS) and C-reactive protein (CRP) levels were determined using biochemical methods. Pancreatic tissue morphology was observed using hematoxylin-eosin (HE) staining. Network pharmacology was employed to predict potential targets of Dahuang Mudantang in the intervention in AP, and molecular biology technique was used to verify relevant targets. ResultCompared with the blank group, the model group exhibited lethargy, unkempt fur, loose and foul-smelling stools, elevated anal temperature with arching and twisting reactions, significantly increased serum levels of AMS and CRP (P<0.05), abnormal pancreatic ductules, disordered interlobular spaces, and inflammatory cell infiltration in histopathological examination, as well as pathological changes including pancreatic acinar cell swelling, congestion, and necrosis. Compared with the model group, the treatment groups showed varying degrees of improvement in general survival conditions, reduced twisting reactions, visibly improved stool characteristics, reduced pancreatic tissue edema and necrosis, decreased serum AMS and CRP levels (P<0.05), with the high-dose Dahuang Mudantang group showing the most pronounced effects (P<0.05). Network pharmacology prediction indicated that hederagenin, β-sitosterol, and quercetin were the most widely connected active compounds with disease targets. Protein-protein interaction (PPI) network analysis revealed that protein kinase B (Akt), tumor protein P53 (TP53), tumor necrosis factor (TNF), interleukin-6 (IL-6), transcription factor (JUN), vascular endothelial growth factor α (VEGFα), interleukin-1β (IL-1β), and vascular cell adhesion molecule-1 (VCAM1) were key targets in the "drug-disease" interaction. KEGG enrichment analysis suggested that the response of the mitogen activated protein kinase (MAPK) signaling pathway might be a core mechanism for DHMDT in the intervention in AP. Molecular biology analysis showed that compared with the blank group, the model group had significantly increased levels of TNF-α, IL-6, and VCAM-1 in pancreatic tissue (P<0.05), as well as significantly elevated expression levels of p38 mitogen-activated protein kinase (p38 MAPK), mitogen-activated protein kinase-activated protein kinase 2 (MK2), and human antigen R (HUR) genes and proteins (P<0.05). Compared with the model group, the treatment groups exhibited decreased levels of TNF-α, IL-6, and VCAM-1 in pancreatic tissue (P<0.05), reduced expression levels of p38 MAPK, MK2, and HUR genes and proteins, with the high-dose Dahuang Mudantang group showing the most pronounced effects (P<0.05). ConclusionDahuang Mudantang activates and regulates the p38 MAPK/MK2/HUR signaling pathway to suppress the release of inflammatory factors, thereby improving pancreatic injury.
9.MRI susceptibility weighted imaging for monitoring vertebral development trajectory in second-third trimester fetuses
Xianyun CAI ; Xin CHEN ; Jing WANG ; Xinhong WEI ; Wen LIU ; Yuchao LI ; Ximan HOU ; Hudie LIANG ; Ruiqin SHAN ; Guangbin WANG
Chinese Journal of Radiology 2023;57(7):777-783
Objective:To measure the morphological parameters of the fetal vertebral centrum ossification centers (COC) in the second-third trimester using MRI susceptibility weighted imaging (SWI), and to explore the growth and development trajectory of the vertebrae.Methods:Fetus in the second-third trimester with normal vertebrae development were prospectively and continuously included in Shandong Provincial Hospital Affiliated to Shandong First Medical University from December 2015 to December 2021, and the SWI scanning of fetal spine was performed. The following morphometric parameters of the C4, T6, L3, S1 vertebrae COC were measured, including sagittal diameter, transverse diameter, height, cross-sectional area and volume. The linear and nonlinear regression analysis was used to derive the best-fit curve for each parameters and gestational age.Results:A total of 112 fetuses were recruited with gestatonal age 21-39 (29.4±3.9) weeks, including 30 cases of C4, 58 cases of T6, 92 cases of L3, 62 cases of S1. Fetal spine in utero with global curvature was kyphosis, presenting two primary curves (thoracic and sacral kyphosis). The morphological parameters sagittal diameter, transverse diameter, height, cross-sectional area and volume of C4 followed the quadratic polynomial rule during 25 to 38 weeks (R 2=0.938, 0.943, 0.952, 0.957, 0.982). During 21 to 38 weeks, the sagittal diameter, transverse diameter and height of the T6 followed the exponential growth pattern (R 2=0.915, 0.923, 0.849) and the growth of the area and volume followed the quadratic polynomial growth pattern (R 2=0.943, 0.961). The L3 followed the quadratic polynomial rule during 21 to 39 weeks (R 2=0.910, 0.916, 0.914, 0.942, 0.948) The sagittal diameter, transverse diameter and height of the S1 followed the linear growth pattern (R 2=0.905, 0.911, 0.922) and the area and volume followed the quadratic polynomial growth pattern (R 2=0.930, 0.964) during 23 to 39 weeks. Conclusions:The growth and development of C4, T6, L3 and S1 COC of fetus in the second-third trimester has a good correlation with gestational age. The growth of fetal vertebral COC in the early stage is slow, but with the growth of gestational age, the growth rate of vertebral bodies accelerates.
10.Comparison of results of prenatal diagnosis by different techniques for fetuses with increased nuchal translucency.
Wencheng DAI ; Xinhong LIU ; Xiaorong MA ; Zhen YU ; Huijun LI
Chinese Journal of Medical Genetics 2023;40(5):532-537
OBJECTIVE:
To assess the value of chromosomal microarray analysis (CMA) and trio-whole exome sequencing (trio-WES) for fetuses with increased nuchal translucency (NT) thickness.
METHODS:
Sixty two pregnant women who had visited Urumqi Maternal and Child Care Health Hospital between June 2018 and June 2020 for NT ≥ 3.0 mm at 11 ~ 13+6 gestational weeks were selected as study subjects. Relevant clinical data were collected. The patients were divided into 3.0 ~ <3.5 mm (n = 33) and ≥3.5 mm groups (n = 29). Chromosome karyotyping analysis and chromosomal microarray analysis were carried out. And trio-WES analysis was performed on 15 samples with NT thickening but negative CMA results. The distribution and incidence of chromosomal abnormalities in the two groups were compared by using chi-square test.
RESULTS:
The median age of the pregnant women was 29 years old (22 ~ 41 years old), the median thickness of NT was 3.4 mm (3.0 ~ 9.1 mm), and the median gestational age at the detection was 13+4 weeks (11+5 ~ 13+6 weeks). Chromosome karyotyping analysis has detected 12 cases of aneuploidies and 1 case of derivative chromosome. The detection rate was 20.97% (13/62). CMA has detected 12 cases of aneuploidies, 1 case of pathogenic CNV and 5 cases of variant of uncertain significance (VUS), with a detection rate of 29.03% (18/62). The aneuploidy rate for the NT ≥ 3.5 mm group was higher than that for the 3.0 ≤ NT < 3.5 mm group [3.03% (1/33) vs. 41.38% (12/29), χ² = 13.698, P < 0.001]. There was no statistically significant difference between the two groups in the detection rate of fetal pathogenic CNV and VUS (χ² = 0.028, P > 0.05). Trio-WES analysis of 15 samples with negative CMA result and no structural abnormality has identified 6 heterozygous variants, including SOS1: c.3542C>T (p.A1181V) and c.3817C>G (p.L1273V), COL2A1: c.436C>T (p.P146S) and c.3700G>A (p.D1234N), LZTR1: c.1496T>C (p.V499A), and BRAF: c.64G>A (p.D22N), respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were rated as VUS.
CONCLUSION
NT thickening can indicate chromosome abnormality, and CMA and trio-WES may be used for the prenatal diagnosis.
Pregnancy
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Humans
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Female
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Adult
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Infant
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Nuchal Translucency Measurement/methods*
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Prenatal Diagnosis/methods*
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Chromosome Aberrations
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Aneuploidy
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Fetus/diagnostic imaging*
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Ultrasonography, Prenatal
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DNA Copy Number Variations
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Transcription Factors

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