1.Analyzing the monitoring results of occupational hazard factors in key enterprises in Foshan City in 2022
Na DENG ; Yao GUO ; Guanlin CHEN ; Jianyi LIANG ; Shaoxin HUO ; Yingqing XIE
China Occupational Medicine 2025;52(2):232-236
		                        		
		                        			
		                        			Objective To analyze the distribution of occupational hazard factors (OHFs) in key enterprises in Foshan City. Methods A total of 373 enterprises from 11 key industries in Foshan City in 2022 were selected as the research subjects using the purposive sampling method. Monitoring data of OHFs in workplaces were obtained and analyzed from the "Workplace Occupational Hazards Monitoring Information System" under "China Disease Prevention and Control Information System". Results Among the 373 enterprises, small and micro-sized enterprises, and large and medium-sized enterprises accounted for 85.5% and 14.5% respectively. A total of 24 137 sampling points in the workplaces were monitored for OHFs, with the national standard compliance rate of 92.1%. Among different OHFs, the compliance rates ranked from highest to lowest were chemical agents, dust, and noise (98.0% vs 89.3% vs 52.0%, P<0.01). A total of 63 131 workers were employed in 373 enterprises, among whom 29 753 were exposed to OHFs, yielding an overall exposure rate of 47.1%. Exposure rates of OHFs by enterprise scale, from highest to lowest, were micro-sized, small-sized, medium-sized, and large-sized enterprises (69.2% vs 52.7% vs 47.3% vs 39.0%, P<0.01). The proportion of workers participated in occupational medical examination was 85.1%, with re-examination proportion of 62.5% and the abnormality detection rate of 2.1%. Conclusion In key enterprises in Foshan City, the risk of noise exposure is relatively high, and the exposure rate of OHFs is highest in micro-sized enterprises. The occupational health supervision and management department needs to strengthen the governance of noise hazards in a targeted manner and urge enterprises (especially micro-sized enterprises) to fulfill their primary responsibilities in occupational disease prevention and control. 
		                        		
		                        		
		                        		
		                        	
2.Bugansan Regulates R-spondin1/Wnt3a-mediated Intestinal Injury to Ameliorate Digestion and Absorption Dysfunction in Rat Model of Aging Induced by D-galactose
Yixuan WANG ; Ran HUO ; Jin TIAN ; Fang FANG ; Na LIU ; Jiepeng WANG ; Chaoyi FANG
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(9):19-27
		                        		
		                        			
		                        			ObjectiveTo elucidate the correlation between alterations in digestion and absorption functions and hepatic deficiency states in aging rats based on the R-spondin1/Wnt3a signaling pathway, and reveal the intervention mechanism of Bugansan. MethodsForty-eight SPF-grade male SD rats were randomly assigned to six groups: blank control, model, low-, medium-, and high-dose (7.03, 14.06, 28.12 g·kg-1, respectively) Bugansan, and vitamin E (suspension, 27 mg·kg-1), with 8 rats in each group. The rat model of aging was established by intraperitoneal injection of D-galactose (400 mg·kg-1), while the blank control group was injected with normal saline. Since the day of modeling, rats in intervention groups received corresponding agents by gavage, and those in blank control and model groups received an equal volume of normal saline (10 mL·kg-1). General biological features such as fur color, activity, body mass, water intake, and food intake were observed. Meanwhile, the content of malondialdehyde (MDA) and the activities of superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) in the serum were measured to assess aging. Grip strength and the content of total bile acids (TBA) and the activity of α-amylase (AMY) in the serum were measured to evaluate hepatic deficiency states. The activity of β-galactosidase (β-gal) in the duodenum was measured to evaluate intestinal senescence. The levels of glucagon-like peptide-1 (GLP-1), vasoactive intestinal peptide (VIP), and D-xylose in the serum were determined to assess digestion and absorption functions of the small intestine. Hematoxylin-eosin staining was conducted to observe pathological changes of the duodenum to assess the small intestine damage. Immunohistochemical staining was employed to visualize the expression of B-cell-specific Moloney murine leukemia virus integration site 1 (Bmi1) and leucine-rich repeat-containing G protein-coupled receptor 5 (Lgr5) in the duodenal tissue. Moreover, Real-time quantitative polymerase chain reaction (Real-time PCR) was utilized to quantify the mRNA levels of Ki67, Bmi1, and Lgr5 to assess proliferation and regeneration of the small intestine. Additionally, the mRNA levels of R-spondin1, Wnt3a, β-catenin, and glycogen synthase kinase-3β (GSK-3β) and the protein levels of R-spondin1, Wnt3a, β-catenin, and phosphorylated GSK-3β (p-GSK-3β) in the duodenum were determined by Real-time PCR and Western blot, respectively, to analyze the mechanisms of intestinal digestion and absorption dysfunction in aging rats and the regulatory characteristics of Bugansan. ResultsCompared with blank control group, the model group showed decreases in body mass, water intake, food intake, grip strength, activities of SOD, GSH-Px, and AMY in the serum and content of GLP-1, VIP and D-xylose in the serum (P<0.05), increases in the content of MDA and TBA in the serum and β-gal activity in the duodenum (P<0.05), reductions in villus length, villus width, crypt depth, and villi/crypt (V/C) value, down-regulated mRNA and protein levels of Ki67, Lgr5, Bmi1, R-spondin1, Wnt3a, β-catenin, and up-regulated level of GSK-3β, phosphorylation (p)-GSK-3β (P<0.05). Compared with the model group, Bugansan increased the body mass, water intake, food intake, grip strength, and activities of SOD, GSH-Px, and AMY and levels of GLP-1, VIP and D-xylose in the serum (P<0.05), while decreasing the content of MDA and TBA in the serum and β-gal activity in the duodenum (P<0.05). Furthermore, Bugansan increased the villus length, villus width, crypt depth, and V/C value, up-regulated the mRNA and protein levels of Ki67, Lgr5, Bmi1, R-spondin1, Wnt3a, β-catenin, and down-regulated the level of GSK-3β and p-GSK-3β (P<0.05). ConclusionAging rats exhibit obvious impairments in digestion and absorption functions, accompanied by a state of hepatic deficiency. The traditional Chinese medicine approach of tonifying liver Qi effectively ameliorates aging-related changes by modulating the R-spondin1/Wnt3a signaling pathway to mitigate intestinal senescence and enhance digestion and absorption functions, ultimately contributing to the delay of aging. 
		                        		
		                        		
		                        		
		                        	
3.The effects of modified maxillary protraction on the soft tissue profile of patients with maxillary hypoplasia during the later period of pubertal peak
Sunxin ZHOU ; Na HUO ; Shuaichen LI ; Tianqi LI ; Xiangbo MENG ; Hengxin WANG ; Tong ZHANG
Journal of Practical Stomatology 2024;40(3):365-370
		                        		
		                        			
		                        			Objective:To study the effects of modified maxillary protraction therapy on the changes in facial soft tissue in patients with maxillary hypoplasia using cephalometric measurements.Methods:26 cases(16 males and 10 females)of Class Ⅲ skeletal malocclu-sion with maxillary hypoplasia during the later period of pubertal peak(CVM Ⅴ to Ⅵ)were included.Treatment was carried out using modified palatal anchorage with a combination of a modified bite-jumping appliance and bilateral maxillary anterior traction.Cephalo-metric measurements were taken before and after treatment using lateral cephalograms,the changes in facial soft tissue-related parame-ters were compared.Results:(1)After treatment,the measurements of soft tissue landmarks in the midfacial region showed a signifi-cant increase(P<0.05),with the average anterior movement exceeding 3 mm for the nasal tip,subnasale,soft tissue A point and upper lip protrusion point.(2)The changes in the G-Sn-Pos,Ns-Prn-Pos,and S-Ns-Sn were highly significant(P<0.01),with an average increase in the G-Sn-Pos of 3.23°±3.74°,a decrease in Ns-Prn-Pos of 2.56°±4.99°,and an average increase in S-Ns-Sn of 2.63° ±3.39°.(3)Changes in soft tissue tension and facial height proportion after treatment were not statistically significant(P>0.05).Con-clusion:The use of a modified pad type intraoral appliance in conjunction with bilateral maxillary anterior traction can effectively pro-mote the improvement of mid facial soft tissue profile in patients with maxillary underdevelopment during the peak growth and develop-ment period,and coordinate the relationship between nasal,lip and chin soft tissue.
		                        		
		                        		
		                        		
		                        	
4.Development of a random forest prediction model for perineural invasion in gallbladder carcinoma based on preoperative enhanced CT image features
Min YANG ; Qi LI ; Wenli HUO ; Wenzhi LI ; Na LI ; Zhimin GENG ; Jian YANG
Chinese Journal of Hepatobiliary Surgery 2024;30(8):581-585
		                        		
		                        			
		                        			Objective:To construct a random forest prediction model for non-invasive identification of perineural invasion in gallbladder carcinoma (GBC) based on preoperative enhanced CT imaging features.Methods:The clinical data of 180 patients who underwent curative-intent resection for gallbladder carcinoma at the First Affiliated Hospital of Xi′an Jiaotong University from January 2022 to December 2023 were retrospectively analyzed, including 61 males and 119 females with the age of (65.3±10.2) years old. The 180 patients were divided into a training set ( n=126) and a testing set ( n=54), and based on perineural invasion, the 126 patients in the training set were divided into the perineural invasion group ( n=33) and the non-perineural invasion group ( n=93), and the other 54 patients in the testing set, there were 15 patients with perineural invasion and 39 patients without perineural invasion. Clinical data such as gender, age, perineural invasion, carbohydrate antigen 19-9 (CA19-9) level and tumor stage were collected from patients. Multivariate logistic regression model was used to analyze the risk factors of perineural invasion in gallbladder carcinoma patients. The correlation between clinical variables and perineural invasion was ranked in order of importance using the "feature_importance" package in Python software. Then, we developed a random forest prediction model for perineural invasion in gallbladder carcinoma patients, and the area under the receiver operating characteristic (ROC) curve and confusion matrix were used to assess the predictive ability of the model. Results:Multivariate logistic regression model analysis showed that patients with CA19-9 >39.0 U/ml ( OR=5.165, 95% CI: 1.650-16.174), T3 stage ( OR=6.037, 95% CI: 1.571-23.197), T4 stage ( OR=9.996, 95% CI: 2.177-45.898), and lymph node metastasis ( OR=7.829, 95% CI: 2.705-22.627) were with a high risk of perineural invasion occurrence (all P<0.05). The top three variables in the order of the importance ranking were CA19-9, lymph node metastasis, and T stage. Combining the results of multivariate analysis and importance ranking, CA19-9, lymph node metastasis, and T stage were used to develop a random forest prediction model for perineural invasion in gallbladder carcinoma patients. The results of ROC curve analysis showed that the areas under curves of the random forest model in the training and testing sets were 0.8250 and 0.7667, respectively. The confusion matrix results showed that the sensitivity were 75.76% and 73.33%, the specificity were 80.65% and 76.92%, and the accuracy were 79.36% and 75.93% in the training and testing sets, respectively. Conclusion:Random forest prediction model based on preoperative enhanced CT image features can be used as a noninvasive means of identifying perineural invasion in patients with gallbladder carcinoma.
		                        		
		                        		
		                        		
		                        	
5.Construction of immortalized tree shrew corneal stromal cell line and investigation of viral infectivity
Xiangrong DING ; Liu CHEN ; Shurui HUO ; Mengdi QI ; Xin LIU ; Wenguang WANG ; Na LI ; Jiejie DAI ; Caixia LU
Acta Laboratorium Animalis Scientia Sinica 2024;32(5):610-619
		                        		
		                        			
		                        			Objective To establish an immortalized tree shrew corneal stromal cells(CSCs)line and to study its response to virus infection.Methods Primary tree shrew CSCs were isolated and cultured by the tissue block adhesion method.CSCs were then transfected with a lentivirus carrying the SV40T gene and monoclonal cells were selected for passage culture.The characteristics of the CSCs were investigated by morphological observation and compared with 40 generations until the 50 generations or more,immunofluorescence identification of vimentin and SV40T genes,karyotype examination,and cell proliferation curve.The CSCs were infected with herpes simplex virus-1(HSV-1)(McKrae strain),Zika virus(ZIKV,GZ01 strain),Dengue virus typeⅡ,and H1N1(PR8).Results The immortalized tree shrew CSCs after>50 passages appeared spindle-shaped with good cell morphology and structure compared with 40 generations.Positive immunofluorescence expression of vimentin and SV40T genes.The cell growth curve showed that the cells were in logarithmic-phase growth on days 4~5 and grew vigorously.The number of chromosomes in the primary cells was stable at 62,while immortalized CSCs had 64 chromosomes at P21 and P56.The virus titer results showed that the immortalized tree shrew CSCs were sensitive to HSV-1(McKrae strain),ZIKV(GZ01 strain),Dengue virus typeⅡ,and H1N1(PR8),with virus titers of 1.32×105,5.62×106,2.69×107,and 7.76×104 CCID50/mL,respectively.Conclusions The immortalized tree shrew CSCs were established successfully,suggesting that this cell line is suitable for studies of the mechanisms of HSV,ZIKV,Dengue virus,and influenza A virus infection in relation to corneal diseases and antiviral drugs.
		                        		
		                        		
		                        		
		                        	
6.Construction of practice education system in speciality of rehabilitation therapy for undergraduate based on WHO rehabilitation competency framework
Yahui ZHANG ; Xiaodong ZHANG ; Yaoyao LIU ; Yujie YANG ; Chenglei FAN ; Xiangxia REN ; Na AN ; Qi WANG ; Zhongyan WANG ; Ming HUO
Chinese Journal of Rehabilitation Theory and Practice 2024;30(11):1248-1253
		                        		
		                        			
		                        			Objective To construct a high-quality practical teaching system of rehabilitation majors for undergraduate based on World Health Organization rehabilitation competence framework(RCF). Methods Using the principles and methods of RCF,the competency requirements for rehabilitation therapy were ana-lyzed and a practical teaching system suitable for undergraduate education in rehabilitation therapy was construct-ed. Results The rehabilitation practice education were constructed as practice courses,clinical practice and social service practice,and the practice education modules and objectives were discussed based on RCF. Conclusion A competency-oriented rehabilitation practice education system has been constructed based on RCF,includ-ing practice courses,clinical practice and social service practice.
		                        		
		                        		
		                        		
		                        	
7.Restoration-oriented anatomical analysis of alveolar bone at mandibular first molars and implications for immediate implant placement surgery: a CBCT study
Quan SHI ; Yang HUANG ; Na HUO ; Yi JIANG ; Tong ZHANG ; Juncheng WANG
The Journal of Advanced Prosthodontics 2024;16(4):212-220
		                        		
		                        			 PURPOSE:
		                        			This cone-beam computed tomography (CBCT) study aimed to analyze the anatomical characteristics of alveolar bone at mandibular first molar (MFM) and their implications for immediate implant placement surgery. 
		                        		
		                        			MATERIALS AND METHODS:
		                        			100 patients with 140 MFMs were reviewed retrospectively. We first performed a 3D reconstruction of the patient’s CBCT data to determine a reference plane with ideal implant placement and orientation. The following parameters of MFM region were analyzed: mesial-distal socket size (MDSS), buccal-lingual socket size (BL-SS), root furcation fornix to inferior alveolar nerve (IAN) distance (RF-I), interradicular bone thickness (IRB), mesial/distal root apex to the IAN distance (MRA-I/DRA-I), thickness of the buccal/lingual bone of the mesial root (MR-B/MR-L), thickness of the buccal/lingual bone of the distal root (DR-B/DR-L).  
		                        		
		                        			RESULTS:
		                        			The MD-SS of MFM was 8.74 ± 0.76 mm, and the BLSS was 8.26 ± 0.72 mm. The MR-B, DR-B was 1.01 ± 0.40 mm and 1.14 ± 0.50 mm, and the difference was statistically significant (P = .001). The values of the MR-L, DR-L were 2.71 ± 0.78 mm and 3.09 ± 0.73 mm, and the difference was also statistically significant (P < .001). The mean distance of RF-I was 15.68 ± 2.13mm, and the MRA-I was 7.06 ± 2.22 mm, which was greater than that of DRA-I (6.48 ± 2.30 mm, P < .001). The IRB at 2 mm, 4 mm apical from the furcation fornix, and at apex level was 2.81 ± 0.50 mm, 3.30 ± 0.62 mm, and 4.44 ± 1.02 mm, respectively.  
		                        		
		                        			CONCLUSION
		                        			There is relatively sufficient bone mass in interradicular bone in height, but an adequate width is lacking for the bone between the mesial and distal root after the extraction of the MFM for immediate implantation. The thickness of the MFM buccal bone is relative thin, especially for the mesial root. 
		                        		
		                        		
		                        		
		                        	
8.Application of pathway nursing combined with multimodal exercise intervention in patients with tumor -associated sarcopenia under multi -disciplinary team
Huan DUAN ; Jia HUO ; Fengxia CHEN ; Linwei LI ; Xiuqing PAN ; Xinjie CHENG ; Na SHI
Chinese Journal of Modern Nursing 2023;29(17):2320-2325
		                        		
		                        			
		                        			Objective:To explore the application effect of pathway nursing combined with multimodal exercise intervention in patients with tumor-associated sarcopenia under multi-disciplinary team.Methods:Using the convenient sampling method, a total of 120 patients with tumor-associated sarcopenia who visited Cancer Center of Henan Provincial People 's Hospital from January 2020 to December 2021 were selected as the research objects. They were divided into the observation group ( n=60) and the control group ( n=60) according to the random number table method. The control group received routine nursing care, while the observation group received multi-disciplinary team pathway nursing combined with multimodal exercise. Skeletal Muscle Mass Index (SMI) , Hand Grip Strength (HGS) , daily walking speed, Cancer Fatigue Scale (CFS) and Irritability, Depression and Anxiety Scale (IDA) scores were compared and analyzed between the two groups. Results:After 4 weeks of intervention, HGS and daily walking speed in the observation group were higher than those in the control group, and the differences were statistically significant ( P<0.05) . After 4 weeks of intervention, the total score of CFS in the observation group was lower than that in the control group, and the scores of physical fatigue, emotional fatigue and cognitive fatigue in the observation group were lower than those in the control group, and the differences were statistically significant ( P<0.05) . After 4 weeks of intervention, the total IDA score of the observation group was lower than that of the control group, and the scores of anxiety, depression, extroversion and introversion stimulation were lower than those of the control group, and the differences were statistically significant ( P<0.05) . Conclusions:Multi-disciplinary team pathway care combined with multimodal exercise can improve the physical fitness of patients with tumor-associated sarcopenia, increase the level of physical activity, relieve fatigue and reduce negative emotions such as anxiety, depression and irritation.
		                        		
		                        		
		                        		
		                        	
9.Effect of Kansui Radix and Glycyrrhizae Radix et Rhizoma in Gansui Banxiatang on CYP450 Enzyme in Ascites Rats
Jia HE ; Min HUO ; Shaohong CHEN ; Linlin XIU ; Wei LI ; Xu WANG ; Na LI ; Haiyan LIU ; Gansheng ZHONG
Chinese Journal of Experimental Traditional Medical Formulae 2022;28(23):10-18
		                        		
		                        			
		                        			ObjectiveTo explore the relationship between Kansui Radix and Glycyrrhizae Radix et Rhizoma in the Gansui Banxiatang based on cytochrome P450 (CYP450) enzyme and ascites rats. MethodA total of 150 Wistar rats were randomized into blank group (distilled water, ig), model group (distilled water, ig), Gansui Banxiatang group (5.68 g·kg-1·d-1, ig), Gansui Banxiatang without Kansui Radix group (5.57 g·kg-1·d-1, ig), Gansui Banxiatang without Glycyrrhizae Radix et Rhizoma group (4.01 g·kg-1·d-1, ig), and Gansui Banxiatang without Kansui Radix And Glycyrrhizae Radix et Rhizoma group (3.90 g·kg-1·d-1, ig), with 25 rats in each group. The Gansui Banxiatang was composed of 1.1 g Kansui Radix, 9 g Pinelliae Rhizoma Praeparatum, 15 g Paeoniae Radix Alba, 16.7 g Glycyrrhizae Radix et Rhizoma praeparata cum melle, and 15 g honey. The rats, except for the blank group, were injected (ip) with Walker-256 cells to induce cancerous ascites. The administration lasted 7 days for each group. The concentration of probe drugs was detected by high performance liquid chromatography (HPLC) and based on the metabolic rates of the drugs, the CYP450 enzyme activity was yielded. The CYP450 enzyme gene expression was determined by Real-time PCR, and CYP450 enzyme protein expression by Western blot. ResultCompared with the blank group, the model group showed high activity of CYP1A2 and CYP2C9, low activity of CYP2E1, CYP2C19, and CYP3A4, low mRNA expression of CYP2E1, CYP2C19, CYP2C9, and CYP3A4, and low protein expression of CYP2E1 and CYP3A4 (P<0.05). Compared with the model group, Gansui Banxiatang group displayed low activity of CYP2C9 and high expression of CYP3A4 mRNA (P<0.01), and Gansui Banxiatang without Kansui Radix group demonstrated low activity of CYP1A2, high activity of CYP2E1 and CYP3A4, high mRNA expression of CYP1A2, CYP2E1, CYP2C19, and CYP3A4, and high protein expression of CYP2E1 and CYP3A4 (P<0.05). In comparison with the model group, the Gansui Banxiatang without Glycyrrhizae Radix Et Rhizoma group showed low activity of CYP2C9, high activity of CYP3A4, and high mRNA expression of CYP2E1 and CYP2C19 (P<0.05), and Gansui Banxiatang without Kansui Radix and Glycyrrhizae Radix Et Rhizoma group had low activity of CYP2C9, high activity of CYP3A4, and high CYP3A4 mRNA expression (P<0.01). The activity of CYP2E1, CYP2C9, and CYP3A4 was higher, and the mRNA expression of CYP1A2, CYP2C19, and CYP3A4 and CYP3A4 protein expression were higher in the Gansui Banxiatang without Kansui Radix group than in the Gansui Banxiatang group (P<0.05). The activity of CYP2C9 and CYP3A4, and CYP2C19 mRNA were higher and mRNA expression of CYP3A4 was lower in the Gansui Banxiatang without Glycyrrhizae Radix Et Rhizoma group than in the Gansui Banxiatang group (P<0.05). The activity of CYP2C9 and CYP3A4 in the Gansui Banxiatang without Kansui Radix and Glycyrrhizae Radix et Rhizoma group was higher than that in the Gansui Banxiatang group (P<0.01). ConclusionThe four prescriptions all showed certain efficacy in the perspective of CYP450 enzyme, among which Gansui Banxiatang without Kansui Radix had the best effect and was better than Gansui Banxiatang. The Kansui Radix and Glycyrrhizae Radix et Rhizoma did not show antagonism in Gansui Banxiatang, but reduced the effect. Thus, in this study, the medicinal pair may show mutual inhibition. 
		                        		
		                        		
		                        		
		                        	
10.Genetic analysis of 21 fetuses with high suspicion of congenital skeletal malformation by prenatal ultrasound
Ke YANG ; Yuwei ZHANG ; Guiyu LOU ; Na QI ; Bing KANG ; Hai XIAO ; Dong WU ; Yuan GAO ; Xingxing LEI ; Fengyang WANG ; Xiaodong HUO ; Bing ZHANG ; Shixiu LIAO
Chinese Journal of Perinatal Medicine 2022;25(1):28-34
		                        		
		                        			
		                        			Objective:To explore the genetic etiology of fetuses with high suspicion of congenital skeletal malformation detected by prenatal ultrasound.Methods:This retrospective study collected 21 pregnant women with highly suspected fetal skeletal malformation indicated by ultrasound (the couples had no skeletal malformation) at Institute of Medical Genetics, Henan Provincial People's Hospital from January 2019 to August 2020. Amniotic fluid/umbilical cord blood of the fetus and peripheral blood of the couples were obtained for karyotype analysis, chromosomal microarray analysis, and whole-exome sequencing. Sanger sequencing was performed for the "pathogenic" "suspected pathogenic" "variants of uncertain significance" variants detected by whole exome sequencing. Genetic etiology of the 21 fetuses was described.Results:A total of five chromosomal abnormalities were detected, including four cases of trisomy 21 and one trisomy 18. Chromosome microarray analysis detected one case of abnormal copy number variation, 16 p11.2 microdeletion syndrome. Ten cases of monogenic diseases were found by whole exome sequencing and eight genes were involved ( SGMS2, FGFR3, DYNC2H1, WDR35, TBX5, COL2A1, FGFR2, and ALPL). Totally, 14 variations were detected, among which seven were novel variations (c.8129T>A, c.7126G>A, c.10307_10320del, and c.2641G>T in DYNC2H1 gene; c.3085G>A and c.491G>A in WDR35 gene; c.1070G>T in COL2A1 gene). Conclusions:For fetus, whose parents have no skeletal malformation, highly suspected of congenital malformation of skeletal system by prenatal ultrasound, genetic factor is the primary reason, including chromosomal abnormalities, copy number variations, and monogenic mutations.
		                        		
		                        		
		                        		
		                        	
            
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