1.Analysis of the current status of red blood cell transfusion in very preterm infants from Chinese Neonatal Network in 2022
Yan MO ; Aimin QIAN ; Ruimiao BAI ; Shujuan LI ; Xiaoqing YU ; Jin WANG ; K. Shoo LEE ; Siyuan JIANG ; Qiufen WEI ; Wenhao ZHOU
Chinese Journal of Pediatrics 2025;63(1):55-61
Objective:To analyze the current status of red blood cell transfusion in very preterm infants (VPI) (gestational age at birth <32 weeks) from Chinese Neonatal Network (CHNN) in 2022.Methods:This cross-sectional study was based on the CHNN VPI cohort. It included 6 985 VPI admitted to CHNN 89 participating centers within 24 hours after birth in 2022. VPI with major congenital anomalies or those transferred to non-CHNN centers for treatment or discharged against medical advice were excluded. VPI were categorized based on whether they received red blood cell transfusions, their gestational age at birth, the type of respiratory support received during transfusion, and whether the pre-transfusion hemoglobin levels exceeded the thresholds. General characteristics, red blood cell transfusion rates, number of transfusions, timing of the first transfusion, and pre-transfusion hemoglobin levels were compared among different groups. The incidence of adverse outcomes between the group of VPI who received transfusions above the threshold and those who received transfusions below the threshold were compared. Comparison among different groups was conducted using χ2 tests, Kruskal-Wallis H tests, Mann-Whitney U test, and so on. Trends by gestational age at birth were evaluated by Cochran-Armitage tests and Jonckheere-Terpstra tests for trend. Results:Among the 6 985 VPI, 3 865 cases(55.3%) were male, with a gestational age at birth of 30.0 (28.6, 31.0) weeks and a birth weight of (1 302±321) g. Overall, 3 617 cases (51.8%) received red blood cell transfusion, while 3 368 cases (48.2%) did not. The red blood cell transfusion rate was 51.8% (3 617/6 985), with rates of 77.7% (893/1 150) for those born before 28 weeks gestational age and 46.7% (2 724/5 835) for those born between 28 and 31 weeks gestational age. A total of 9 616 times red blood cell transfusions were administered to 3 617 VPI, with 632 times missing pre-transfusion hemoglobin data, and 8 984 times included in the analysis. Of the red blood cell transfusions, 25.6% (2 459/9 616) were administered when invasive respiratory support was required, 51.3% (4 934/9 616) were receiving non-invasive respiratory support, while 23.1% (2 223/9, 616) were given when no respiratory support was needed. Compared to the non-transfusion group, the red blood cell transfusion group had a higher rate of pregnancy-induced hypertension in mothers, lower rates of born via cesarean section and mother′s antenatal steroid administration, smaller gestational age, lower birth weight, a higher proportion of small-for-gestational-age, multiple births, and proportions of Apgar score at the 5 th minute after birth ≤3 (all P<0.05). They were also less likely to be female, born in hospital or undergo delayed cord clamping (all P<0.01). Additionally, higher transport risk index of physiologic stability score at admission were observed in the red blood cell transfusion group ( P<0.001). The number of red blood cell transfusion was 2 (1, 3) times, with the first transfusion occurring at an age of 18 (8, 29) days, and a pre-transfusion hemoglobin level of 97 (86, 109) g/L. For VPI ≤7 days of age, the pre-transfusion hemoglobin levels for invasive respiratory support, non-invasive respiratory support, or no respiratory support, respectively, with no statistically significant differences between groups ( H=5.59, P=0.061). For VPI aged 8 to 21 days and≥22 days, the levels with statistically differences between groups (both P<0.01). Red blood cell transfusions above recommended thresholds were observed in all respiratory support categories at different stages of life, with the highest prevalence in infants aged 8 to 21 days and≥22 days who did not require respiratory support, at 90.1% (264/273) and 91.1%(1 578/1 732), respectively. The rate of necrotizing enterocolitis was higher in the above-threshold group ( χ2=10.59, P=0.001), and the duration of hospital stay was longer in the above-threshold group ( Z=4.67, P<0.001) compared to the below-threshold group. Conclusions:In 2022, the red blood cell transfusion rate was relatively high among VPI from CHNN. Pre-transfusion hemoglobin levels frequently exceeded recommended transfusion thresholds.
2.Association of Estimated Glucose Disposal Rate With the Stenosis Severity of Coronary Artery Disease: A Cross-sectional Study
Yubin WU ; Zhiteng CHEN ; Maoxiong WU ; Wenhao LIU ; Qian CHEN ; Shiyi ZHOU ; Yan-xin CHEN ; Min XIA
Journal of Sun Yat-sen University(Medical Sciences) 2024;45(1):136-145
ObjectiveTo investigate the association between estimated glucose disposal rate (eGDR) and the severity of coronary heart disease. MethodsWe conducted a hospital-based cross-sectional study that included 1258 patients (mean age: 62(53-68) years) who underwent coronary angiography for suspected coronary artery disease (53.9% were male). Insulin resistance level (IR) was calculated according to eGDR formula: eGDR = 21.158 - (0.09 × WC) - (3.407 × hypertension) - (0.551 × HbA1c) [hypertension (yes = 1 / no = 0), HbA1c = HbA1c (%)]. Subjects were grouped according to the eGDR quantile. CAD severity was determined by the number of narrowed vessels: no-obstructive CAD group (all coronary stenosis were<50%, n=704), Single-vessel CAD group (only one involved major coronary artery stenosis≥50%, n=205), Multi-vessel CAD group (two or more involved major coronary arteries stenosis≥50%, n=349); Multivariate logistic regression model was used to analyze the association between eGDR and CAD severity. The linear relationship between eGDR and CAD in the whole range of eGDR was analyzed using restricted cubic spline. Subgroup analyses were used to assess the association between eGDR and CAD severity in different diabetic states. Receiver operating characteristic (ROC) curve analysis were used to evaluate the value of eGDR in improving CAD recognition. ResultsA decrease in the eGDR index was significantly associated with an increased risk of CAD severity (OR: 2.79; 95%CI: 1.72~4.55; P<0.001). In multivariate logistic regression models, individuals with the lowest quantile of eGDR (T1) were 2.79 times more likely to develop multi-vessel CAD than those with the highest quantile of eGDR (T3) (OR: 2.79; 95%CI: 1.72~4.55; P<0.001). Multivariate restricted cubic spline analysis showed that eGDR was negatively associated with CAD and multi-vessel CAD (P-nonlinear>0.05). In non-diabetic patients, compared with the reference group (T3), the T1 group had a significantly increased risk of CAD (OR: 1.42; 95% CI: 1.00~2.01; P<0.05) and multi-vessel CAD (OR: 1.86; 95%CI: 1.21~2.86; P<0.05). No statistical association was found between eGDR and CAD in diabetic patients. In ROC curve analysis, when eGDR was added to traditional model for CAD, significant improvements were observed in the model's recognition of CAD and multi-vessel CAD. ConclusionOur study shows eGDR levels are inversely associated with CAD and CAD severity. eGDR, as a non-insulin measure to assess IR, could be a valuable indicator of CAD severity for population.
3.Comparative Study on Effect of Yiqi Liangxue Shengji Formula (益气凉血生肌方) and Atorvastatin Tablets on Vascular Injury and Differences in Serum Metabolites in Abdominal Aortic Balloon Injury Model Rats
Tianshi MAO ; Long XIE ; Qun GAO ; Yi PAN ; Wenhao JIA ; Qian LIN
Journal of Traditional Chinese Medicine 2024;65(11):1180-1188
ObjectiveTo compare the effects and differences of Yiqi Liangxue Shengji Formula (益气凉血生肌方) and atorvastatin on the repair of vascular injury in rats from the perspective of metabolomics. MethodsTwenty-four male SD rats were randomly divided into sham-surgery, model, traditional Chinese medicine (TCM), and ator-vastatin groups, with 6 rats in each group. The rat model was established by balloon-induced abdominal aorta injury. Gavage was started on the day after surgery in all groups of rats. The sham and model groups were given with deio-nized water, TCM group received Yiqi Liangxue Shengji Formula 6 g/(kg·d), and the atorvastatin group treated with atorvastatin suspension 2 mg/(kg·d) for 4 weeks. HE staining was used to observe the pathological morphology of the injured segment of the abdominal aorta; ELISA detection was used to test serum nitric oxide (NO) and C-reactive protein (CRP) levels; UPLC MS/MS technology was used for widely targeted metabolomics detection in serum, and multivariate statistical analysis was used to screen metabolic markers and pathways of two drugs; finally, compare serum levels of key metabolic markers of the above two medications in rats of each group. ResultsCompared with the sham-surgery group, the neointima significantly thickened, the level of NO decreased significantly and the level of CRP increased in serum of the model group (P<0.01); compared with the model group, the degree of arterial intimal hyperplasia in TCM group and atorvastatin group reduced, with an increase in NO levels and a decrease in CRP levels (P< 0.05 or P<0.01). The results of serum metabolomics showed that TCM group obtained 49 metabolic markers and 6 metabolic pathways, while atorvastatin group obtained 41 metabolic markers and 4 metabolic pathways. The two medications jointly regulated 38 metabolites. Glycerophospholipid metabolism and arginine-related metabolism were common metabolic pathways for both medications. Lysophosphatidylcholine (16∶1/0∶0) [LPC (16∶1/ 0∶0)], phosphatidylcholine (15∶0/15∶0) [PC (15∶0/15∶0)] were the key metabolites of glycerophospholipid metabolic pathway; ornithine, spermidine were the key metabolites of arginine-related metabolic pathway. The tricarboxylic acid cycle and glutathione metabolism were the unique metabolic pathways of Yiqi Liangxue Shengji Formula. Compared with the sham-surgery group, LPC (16∶1/0∶0), ornithine, and spermidine levels elevated and PC (15∶0/15∶0) levels decreased in the model group (P<0.05 or P<0.01). Compared with the model group, LPC (16∶1/0∶0), ornithine, and spermidine levels decreased, and PC (15∶0/15∶0) levels increased in both TCM group and atorvastatin group (P<0.05 or P<0.01). The degree of LPC reduction (16∶1/0∶0) was more significant in atorvastatin group compared with that in the TCM group (P<0.01). ConclusionsBoth sham-surgery and atorvastatin could regulate lipid metabolism and arginine-related metabolism, exert the characteristics of lipid-lowering, anti-inflammatory, improve arginine/NO bioavailability, and improve endothelial dysfunction. Atorvastatin showed more advantages in lipid-lowering and anti-inflammatory, while Yiqi Liangxue Shengji Formula has unique characteristics in regulating energy metabolism and improving oxidative stress.
4.Diagnosis and treatment of low anterior resection syndrome after intersphincteric resection for low rectal cancer
Wenhao CHEN ; Junjie ZHOU ; Heng HU ; Xianghai REN ; Xiaoyu XIE ; Qun QIAN ; Congqing JIANG
Chinese Journal of Digestive Surgery 2024;23(6):806-811
Intersphincteric resection (ISR) is an advanced sphincter-preserving surgery for low rectal cancer. Accumulating evidences from clinical studies indicate that ISR can spare some pati-ents with low rectal cancer from the distress of anal amputation while ensuring oncological efficacy. However, due to the necessity of removing part or all of the internal sphincter during rectal resection and the extremely low anastomosis level, a subset of patients may experience low anterior resection syndrome (LARS) after surgery. LARS is characterized by symptoms such as anal incontinence, increased bowel frequency, urgency, incomplete evacuation, and obstructed defecation. Based on relevant literature and team practice, the authors provide an overview of the diagnosis and treat-ment progress of LARS following ISR.
5.Identification of spontaneous age-related cataract in Microtus fortis
Tianqiong HE ; Junkang ZHOU ; Yixin WEN ; Qian LIU ; Wenling ZHI ; Wenhao YANG ; Shuangyan HE ; Lingxuan OUYANG ; Xiaobo XIA ; Zhijun ZHOU
Journal of Central South University(Medical Sciences) 2024;49(4):553-561
Objective:Age-related cataract is the most common type of adult cataract and a leading cause of blindness.Currently,there are few reports on the establishment of animal models for age-related cataract.During the experimental breeding of Microtus fortis(M.fortis),we first observed that M.fortis aged 12 to 15 months could naturally develop cataracts.This study aims to explore the possibility of developing them as an animal model for age-related cataract via identifing and analyzing spontaneous cataract in M.fortis. Methods:The 12-month-old healthy M.fortis were served as a control group and 12-month-old cataractous M.fortis were served as an experimental group.The lens transparency was observed using the slit-lamp biomicroscope.Hematoxylin and eosin staining was used to detect pathological changes in the lens.Biochemical detection methods were applied to detect blood routine,blood glucose levels,the serum activities of superoxide dismutase(SOD),and glutathione peroxidase(GSH-Px)in both groups.Finally,real-time RT-PCR was used to detect the transcription levels of cataract-related genes in the lens of 2 groups. Results:Compared with the control group,the lens of cataract M.fortis showed severely visible opacity,the structure of lens was destroyed seriously,and some pathological damage,such as swelling,degeneration/necrosis,calcification,hyperplasia,and fiber liquefaction were found in lens epithelial cells(LECs).The fibrous structure was disorganized and irregularly distributed with morgagnian globules(MGs)aggregated in the degenerated lens fibers.There was no statistically significant difference in blood glucose levels between the experimental and control groups(P>0.05).However,white blood cell(WBC)count(P<0.05),lymphocyte count(P<0.01),and lymphocyte ratio(P<0.05)were significantly decreased,while neutrophil percentage(P<0.05)and monocyte ratio(P<0.01)were significantly increased.The serum activities of SOD and GSH-Px(both P<0.05)were both reduced.The mRNAs of cataract-related genes,including CRYAA,CRYBA1,CRYBB3,Bsfp1,GJA3,CRYBA2,MIP,HspB1,DNase2B,and GJA8,were significantly downregultaed in the lenses of the experimental group(all P<0.05). Conclusion:There are significant differences in lens pathological changes,peroxidase levels,and cataract-related gene expression between cataract and healthy M.fortis.The developed cataract spontaneously in M.fortis is closely related to age,the cataract M.fortis might be an ideal animal model for the research of age-related cataract.
6.Qualitative study on the experiences of undergraduate nursing interns using nursing information systems
Danni HE ; Yanfei CHEN ; Shihua CAO ; Xiaohong ZHU ; Wenhao QI ; Xiaomin CHEN ; Lihua QIAN
Chinese Journal of Modern Nursing 2024;30(16):2131-2136
Objective:To deeply understand the inner experiences of undergraduate nursing interns using Nursing Information Systems (NIS) and provide references for formulating relevant intervention strategies.Methods:A descriptive phenomenological approach was adopted for this qualitative study. Purposeful sampling was used to select undergraduate nursing interns from four comprehensive hospitals in Hangzhou during February to May 2023 for semi-structured interviews. The interview data were analyzed using Colaizzi's seven-step method to extract themes.Results:Four themes were identified in this study: insufficient preparedness of undergraduate nursing interns in using NIS, low engagement of undergraduate nursing interns in using NIS, perceived benefits of using NIS by undergraduate nursing interns, and adaptation strategies of undergraduate nursing interns using NIS.Conclusions:There are issues such as insufficient preparedness and low engagement among undergraduate nursing interns in using NIS. Some respondents experience emotions such as anxiety, fatigue, and decreased enthusiasm. It is recommended that colleges and internship hospitals pay attention to the clinical work demands and the learning needs of nursing interns, thus providing education and support for the use of NIS.
7.Genetic background of idiopathic neurodevelopmental delay patients with significant brain deviation volume.
Xiang CHEN ; Yuxi CHEN ; Kai YAN ; Huiyao CHEN ; Qian QIN ; Lin YANG ; Bo LIU ; Guoqiang CHENG ; Yun CAO ; Bingbing WU ; Xinran DONG ; Zhongwei QIAO ; Wenhao ZHOU
Chinese Medical Journal 2023;136(7):807-814
BACKGROUND:
Significant brain volume deviation is an essential phenotype in children with neurodevelopmental delay (NDD), but its genetic basis has not been fully characterized. This study attempted to analyze the genetic factors associated with significant whole-brain deviation volume (WBDV).
METHODS:
We established a reference curve based on 4222 subjects ranging in age from the first postnatal day to 18 years. We recruited only NDD patients without acquired etiologies or positive genetic results. Cranial magnetic resonance imaging (MRI) and clinical exome sequencing (2742 genes) data were acquired. A genetic burden test was performed, and the results were compared between patients with and without significant WBDV. Literature review analyses and BrainSpan analysis based on the human brain developmental transcriptome were performed to detect the potential role of genetic risk factors in human brain development.
RESULTS:
We recruited a total of 253 NDD patients. Among them, 26 had significantly decreased WBDV (<-2 standard deviations [SDs]), and 14 had significantly increased WBDV (>+2 SDs). NDD patients with significant WBDV had higher rates of motor development delay (49.8% [106/213] vs . 75.0% [30/40], P = 0.003) than patients without significant WBDV. Genetic burden analyses found 30 genes with an increased allele frequency of rare variants in patients with significant WBDV. Analyses of the literature further demonstrated that these genes were not randomly identified: burden genes were more related to the brain development than background genes ( P = 1.656e -9 ). In seven human brain regions related to motor development, we observed burden genes had higher expression before 37-week gestational age than postnatal stages. Functional analyses found that burden genes were enriched in embryonic brain development, with positive regulation of synaptic growth at the neuromuscular junction, positive regulation of deoxyribonucleic acid templated transcription, and response to hormone, and these genes were shown to be expressed in neural progenitors. Based on single cell sequencing analyses, we found TUBB2B gene had elevated expression levels in neural progenitor cells, interneuron, and excitatory neuron and SOX15 had high expression in interneuron and excitatory neuron.
CONCLUSION
Idiopathic NDD patients with significant brain volume changes detected by MRI had an increased prevalence of motor development delay, which could be explained by the genetic differences characterized herein.
Child
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Humans
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Neurodevelopmental Disorders/epidemiology*
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Genetic Testing
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Phenotype
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Brain/pathology*
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Genetic Background
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SOX Transcription Factors/genetics*
8.Value of three-dimensional visualization technique in precise stent drainage for hilar cholangiocarcinoma
Jican YAN ; Wenhao YU ; Zhixin WANG ; Fanyu KONG ; Zhi XIE ; Haining FAN ; Haijiu WANG ; Qian LU ; Li REN
Chinese Journal of Digestive Endoscopy 2023;40(9):713-718
Objective:To investigate the clinical value of three-dimensional (3D) visualization technology in the precise drainage through endoscopic retrograde biliary drainage (ERBD) for hilar cholangiocarcinoma.Methods:Clinical data of 42 patients with highly suspected hilar cholangiocarcinoma who underwent ERBD in Qinghai University Affiliated Hospital from September 2019 to August 2022 were retrospectively collected. Twenty patients underwent 3D biliary tract reconstruction before surgery (the reconstruction group) and 22 others did not undergo 3D biliary tract reconstruction before surgery (the non-reconstruction group). The surgery time, X-ray exposure time, the technical success rate, the clinical success rate, incidence of postoperative complications, recent and short-term endoscopic retrograde cholangiopancreatography (ERCP) reintervention rate of the two groups were compared.Results:There was no significant difference in preoperative baseline data between the two groups ( P>0.05). ERBD was conducted successfully in all 42 patients. The operation time in the reconstruction group [35.00 (25.00, 57.50) min] was significantly shorter than that in the non-reconstruction group [60.00 (33.75, 60.00) min] with significant difference ( Z=-2.251, P=0.024). There was no significant difference in the X-ray exposure time between the two groups [10.00 (5.00, 12.00) min VS 10.55 (9.50, 17.50) min, Z=-1.552, P=0.121]. The technical success rates of both groups were 100.0%, and the clinical success rate of the reconstruction group was higher than that of the non-reconstruction group [70.0% (14/20) VS 31.8% (7/22)] with significant difference ( χ 2=6.109, P=0.013). There was no significant difference in the incidence of postoperative complications between the two groups [20.0% (4/20) VS 22.7% (5/22), χ 2=0.141, P=0.708]. All patients were followed up for 6 months after the procedure. The median survival time was 3.91 months in the reconstruction group and 2.78 months in the non-reconstruction group. There was no ERCP intervention in the reconstruction group within 2 weeks after the procedure, while 4 cases (18.2%) in the non-reconstruction group received 6 ERCP interventions due to cholangitis and postoperative pancreatitis. Within 2 weeks to 3 months, 2 patients (10.0%) in the reconstruction group received 4 ERCP interventions for cholangitis, and 2 patients (9.1%) in the non-reconstruction group received 3 ERCP interventions for cholangitis. There was no significant difference in recent ( χ 2=2.183, P=0.140) or short-term ( χ 2=0.000, P=1.000) ERCP reintervention rate between the reconstruction group and the non-reconstruction group. Conclusion:3D visualization biliary duct reconstruction technology can measure the volume of liver drainage for hilar cholangiocarcinoma, shorten the operation time and improve the clinical success rate through precise preoperative planning, which is worth of promotion.
9.Topological Structure and Biomechanics of Three-Dimensional Printed Height Increasing Insoles for Leg Length Discrepancy
Qian DENG ; Yuanjing XU ; Kang ZHAO ; Wenhao WANG ; Haoxin WEI ; Kun ZHENG ; Jinwu WANG ; Kerong DAI
Journal of Medical Biomechanics 2022;37(1):E045-E051
Objective To study topological structure of a new type of three-dimensional (3D) printed height increasing insoles for leg length discrepancy (LLD) and its effect on biomechanics of lower limbs. Methods Topological structure for middle and rear part of the insole was optimized by solid isotropic microstructures with penalization (SIMP), the force was loaded and the boundary conditions were set according to force area of the insole, and the height increasing insole with thermoplastic polyurethanes (TPU) materials was printed by selected laser sintering (SLS). The insoles were used in 9 patients with LLD, visual analogue scale (VAS) and Maryland foot function scores were used to compare pain and foot function changes of patients before and after using the insole, and the 3D gait analysis system was used to compare spatiotemporal parameters and vertical ground reaction force (vGRF) of both lower limbs. Result sAfter the patient wore 3D printed insole, VAS scores decreased, Maryland foot function scores increased, vGRF of both lower limbs decreased, and the difference of cadence, stance phase and swing phase in both lower limbs decreased. Conclusions The 3D printed height increasing insole after topology optimization can improve coordination of lower limb movement, reduce ground impact, relieve pain and improve foot function, thus providing an effective personalized orthopedic plan for LLD treatment in clinic.
10.Analysis of clinical, pathological and gene mutation characteristics in 11 cases of nemaline myopathy caused by NEB gene mutation
Ping CHEN ; Qianqian QU ; Qi QIAN ; Xianzhao ZHENG ; Haiyan LIU ; Wenhao CUI ; Yaguang ZHOU ; Haidong LYU
Chinese Journal of Neurology 2022;55(3):216-222
Objective:To investigate the characteristics of clinical, muscle pathology and gene mutation in patients with nemaline myopathy caused by NEB gene mutation.Methods:The clinical and pathological data of patients with nemaline myopathy caused by NEB gene were collected from Neuromuscular Center of Jiaozuo People′s Hospital from January 1997 to January 2020. The next generation sequencing was preformed to detect NEB gene in all patients, and characteristics of gene mutation were analyzed.Results:Among the 11 patients, there were 8 males and 3 females, and 6 of them came from 2 families. The age of seeing a doctor ranged from 11 to 52 years, the age of onset was from 6 to 23 years, and the course of disease ranged from 5 to 35 years. Neurological examination showed that among the 11 patients, 8 patients had high palatal arch and long face. The muscle tone of both upperlimbs was normal, the tendon reflex was depressed, the proximal muscle strength was grade Ⅲ-Ⅴ, and the distal muscle strength was grade Ⅴ. The muscle tone of both lower extremities was reduced and the tendon reflex was absent. The proximal muscle strength was grade Ⅱ-Ⅳ and the distal muscle strength was grade Ⅲ-Ⅴ. No dysphagia or respiratory muscle involvement was found. Muscle biopsies were performed in 7 of the 11 patients, the pathological changes were muscle fibers of different sizes, circular atrophic muscle fibers and compensatory hypertrophic fibers, and occasionally denatured and necrotic muscle fibers were found. Different degrees of rod aggregation could be seen in all the 7 patients. Electron microscopic examination of 5 patients showed that there was rod aggregation between myofibrils, and most of them were located near the Z band, but no intranuclear rod was found. NEB gene was found in all 11 patients, and a total of 9 different mutation sites were detected, including 8 in exon region and 1 in intron region. Among them, c.21522+3A>G was found in 10 cases, c.1623delT was found in 3 cases and c.17611C>T was found in 3 cases. There was 1 case of c.4417C>T, c.2549delA, c.21065dupA, c.3520G>A, c.20943G>A, c.192G>A respectively.Conclusions:The clinical phenotype of nemaline myopathy caused by NEB gene has great heterogeneity. Muscle pathology shows that rod aggregation is an important basis for the diagnosis of this disease. Mutation c.21522+3A>G in intron is the most common mutation in this group of NEB gene. And the novel mutation sites of NEB gene are respectively c.17611C>T, c.2549delA, c.3520G>A, c.21065dupA, c.20943G>A and c.192G>A.

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