1.Study of echocardiographic normal reference value of left ventricular remodeling index and left ventricular geometry and function in primary hypertension
Lihua YANG ; Yan DENG ; Yuping LIU ; Ping SHUAI ; Lixue YIN
Chinese Journal of Ultrasonography 2025;34(3):185-193
Objective:To establish the normal reference value of the left ventricular remodeling index(RI)in healthy adults,and to evaluate the phenotypes of RI in various left ventricular geometries and its relationship with left ventricular systolic and diastolic functions in asymptomatic hypertensive patients.Methods:A retrospective study design was employed,906 healthy Han Chinese volunteers were selected as the control group from the multicenter study "Echocardiographic Measurements in Normal Chinese Adults"(EMINCA),which was conducted in 2012. The normal reference range of left ventricular RI was established based on the 95% CI( xˉ ± 1.96 s). Statistical analyses were conducted to evaluate differences in RI across age groups and between genders. A total of 340 asymptomatic hypertensive patients in the Department of Health Management,Sichuan Provincial People's Hospital from July 2023 to March 2024 were prospectively included as the hypertension group. Conventional echocardiography and two-dimensional speckle tracking imaging were used to assess left ventricular structure and function. Parameters such as left ventricular mass index(LVMI),RI,relative wall thickness(RWT),the ratio of early diastolic mitral inflow velocity to the average early diastolic mitral annular velocity(E/e'),and the ratio of early diastolic to late diastolic mitral inflow velocities(E/A)were calculated. Differences of these parameters between the hypertension group and the healthy control group were compared. The hypertension group was stratified into 3 subgroups based on left ventricular posterior wall thickness at end-diastole(LVPWd)and RI:the non-LV hypertrophy group,the left ventricular hypertrophy with normal RI group,and the left ventricular hypertrophy with low RI group. Relevant parameters were compared among these subgroups,and the statistical significance of the differences was analyzed. Pearson correlation analysis and multiple linear regression analysis were performed to explore the relationships between left ventricular RI and GLS,LVEF,the average mitral annular peak systolic velocity(s'),e',E/e',E/A. Results:In the healthy control group,RI showed a declining trend with increasing age in both sexes. Furthermore,the RI was significantly higher in the female group compared to the male group( P<0.001). Compared with the healthy control group,LVMI and E/e' increased while RI,e' and s' decreased in the hypertension group(all P < 0.001). Among the 3 subgroups of the hypertension group,compared with the other two groups,LVMI and E/e' increased while absolute GLS and s' reduced in the left ventricular hypertrophy with low RI subgroup(all P <0.001). Pearson correlation analysis revealed that RI was negatively correlated with GLS and E/e'( r=-0.457,-0.281;all P < 0.001),and positively correlated with LVEF,e',s' and E/A( r=0.229,0.394,0.150,0.172;all P < 0.05). Multivariate linear regression analysis demonstrated that left ventricular RI was independently associated with GLS,LVEF,e',s',E/e' and E/A. Conclusions:The normal reference range of left ventricular RI tends to decrease with age and is typically higher in females than in males. In asymptomatic patients with primary hypertension,RI,systolic and diastolic functions of the left ventricular are lower,while LVMI is higher. Among these patients,functional impairment is more pronounced in patients with left ventricular hypertrophy and reduced RI. This indicates that left ventricular RI may offer an imaging basis for further classification and stratification of structural and functional abnormalities in the left ventricle of asymptomatic hypertensive patients.
2.Combination therapy of wheat-grained sized cone moxibustion and point-to-point needle insertion with medical ozone injection for 31 cases of allergic rhinitis.
Dong HAN ; Chunsheng YIN ; Yuping YANG
Chinese Acupuncture & Moxibustion 2025;45(12):1739-1742
OBJECTIVE:
To observe the clinical efficacy of combination therapy of wheat-grained sized cone moxibustion and point-to-point needle insertion with medical ozone penetrating injection for allergic rhinitis (AR) and its effect on inflammation-related indexes.
METHODS:
Thirty-one patients with persistent AR were enrolled. The patients received medical ozone injection at bilateral Yingxiang (LI20)-to-Shangyingxiang (EX-HN8), and wheat-grained sized cone moxibustion at Dazhui (GV14), twice a week (with a 3-day interval) for 4 consecutive weeks. The total nasal symptoms score (TNSS), total non-nasal symptom score (TNNSS), rhinoconjunctivitis quality of life questionnaire (RQLQ), and rhinitis control assessment test (RCAT) scores were evaluated before treatment, after treatment, and at the 8-week follow-up. Levels of eosinophil (EOS) count, immunoglobulin E (IgE), interleukin (IL)-4, IL-6, and IL-17 were measured before and after treatment. Clinical efficacy was evaluated after treatment, and the recurrence rate was assessed at follow-up.
RESULTS:
Compared with those before treatment, the TNSS, TNNSS, and RQLQ scores were decreased (P<0.05), while the RCAT score was increased (P<0.05) after treatment and at follow-up. There were no statistically significant differences in above indexes between the post-treatment and follow-up (P>0.05). After treatment, the whole blood EOS count and serum levels of IgE, IL-4, IL-6, and IL-17 were decreased compared with those before treatment (P<0.05). After treatment, 17 cases were markedly effective, 12 cases were effective, and 2 cases were ineffective, resulting in a total effective rate of 93.5%. At follow-up, 2 cases relapsed, and the recurrence rate was 6.9%.
CONCLUSION
Combination therapy of wheat-grained sized cone moxibustion and point-to-point needle insertion with medical ozone injection can improve AR symptoms, reduce the recurrence rate, and enhance the quality of life. The mechanism may be associated with the regulation of immune-related indexes.
Humans
;
Female
;
Male
;
Moxibustion
;
Adult
;
Ozone/administration & dosage*
;
Middle Aged
;
Young Adult
;
Acupuncture Points
;
Adolescent
;
Combined Modality Therapy
;
Treatment Outcome
;
Immunoglobulin E/blood*
;
Rhinitis, Allergic/immunology*
;
Interleukin-4/immunology*
4.Quantitative evaluation of left ventricular myocardial work in patients with systemic scleroderma using pressure-strain loop
Sen MAO ; Yuping JIANG ; Youdong HAN ; Kaihua LIU ; Yue YIN ; Xuyu HE ; Luping ZHAO
Chinese Journal of Rheumatology 2025;29(2):133-138
Objective:To evaluate left ventricular systolic function in patients with systemic scleroderma (SSc) with normal left ventricular ejection fraction using pressure-strain loop (PSL) .Methods:To collect 30 patients with SSc who were treated in the Rheumatology and Immunology Department of Jining Medical University from January 2022 to March 2024 as the observation group, 30 healthy volunteers were selected as the control group after 1:1 matching with the observation group according to the age ±3 years old and the same gender. Clinical and ultrasound data were collected, PSL was used to evaluate and compare the differences between the two groups in left ventricular longitudinal strain (GLS), global work index (GWI), global useful work (GCW), global useless work (GWW) and global work efficiency (GWE), and the statistically significant variables were analyzed by multivariate logistic regression to analyze the independent predictors of early left ventricular function impairment in patients with SSc,and constructed receiver operating characteristic (ROC) curve to analyze the predictive value of GLS, GWI, GCW, GWW and GWE in early left ventricular function impairment in SSc patients.Results:Compared with the control group, the observation group GLS,GWI, GCW and GWE decreased( P<0.05), while the GWW increased( P<0.05). Multivariate logistic regression analysis showed that GLS[ OR(95% CI)=0.51(0.26, 1.02), P=0.055]、GWI[ OR(95% CI)=1.00(0.99, 1.01), P=0.969)、GCW[ OR(95% CI)=1.00(0.99, 1.02), P=0.771]、GWW[ OR(95% CI)=0.90(0.81, 1.01), P=0.075]and GWE[ OR(95% CI)=0.02(0.00, 0.55), P=0.022], in which GWE had the highest significance in predicting left ventricular myocardial work in SSc patients. ROC curve showed that compared with GLS, GWI, GCW and GWW, the area under GWE curve (0.953) was the largest, and the sensitivity of GWE≤94% to predict myocardial damage in SSc patients was 80.0%, and the specificity was 93.3%. The results of the repeatability test showed that the reproducibility of the intra-observer and inter-observer measurements was good. Conclusion:The PSL provides a new method for the quantitative assessment of early left ventricular systolic function impairment in patients with SSc, and GWE can be used as a sensitive index to predict early left ventricular systolic function impairment in patients with SSc.
5.Characteristics of traditional Chinese medicine syndromes in patients with Chikungunya hemorrhagic fever:a cross-sectional study
Shiying LU ; Danwen ZHENG ; Xintian HONG ; Yuping LIU ; Guangzong LI ; Zhifeng HONG ; Jinghua YANG ; Yan ZHANG ; Banghan DING ; Yuntao LIU ; Yuanyuan WANG ; Xin YIN ; Jingwei SHUI ; Xiaofei FAN ; Hai LAN ; Zhongde ZHANG
Journal of Beijing University of Traditional Chinese Medicine 2025;48(11):1531-1539
Objective To explore the traditional Chinese medicine(TCM)syndrome characteristics of patients with Chikungunya hemorrhagic fever and to provide empirical data to support the application of TCM in diagnosing and treating Chikungunya hemorrhagic fever.Methods A cross-sectional survey was conducted to collect clinical data(sex,age,days since onset,and comorbidity underlying disease conditions)and TCM with four-examination information(symptoms,tongue manifestations,and pulse manifestations)from 255 patients with Chikungunya hemorrhagic fever who visited Lecong Hospital of Shunde,Foshan,the Third People's Hospital of Shunde District of Foshan,Shunde Hospital of Southern Medical University Affiliated Chencun Hospital between July 23 and July 29,2025.Factor and cluster analyses were used to summarize TCM syndrome characteristics and analyze core pathogenesis in conjunction with clinical features.Results Among the 255 patients with Chikungunya hemorrhagic fever,131 were male and 124 were female,with a age of(49.05±17.93)years and a disease duration of(3.26±1.78)days.Among the four types of examination information in TCM,35 items exhibited a frequency exceeding 10%.The most prevalent symptoms were arthralgia(180 patients,70.59%),exanthem(153 patients,60.00%),fatigue(99 patients,38.82%),anhidrosis(98 patients,38.43%),pruritus(96 patients,37.65%),and fever(92 patients,36.08%).Tongue and pulse manifestations were primarily white fur(155 patients,60.78%),pink tongue(111 patients,43.53%),slippery pulse(143 patients,56.08%),and greasy fur(134 patients,52.53%).Patients with disease onset≤3 d had a higher incidence of arthralgia,fatigue,fever,aversion to cold,generalized muscle pain,aversion to wind,insomnia,headache,sweating,low-grade fever,poor appetite,loose stool,hyperhidrosis,and red tongue than those with disease onset≥4 d(P<0.05).Patients with disease onset≥4 d had a higher incidence of pink tongue and thick fur than those with disease onset≤3 d(P<0.05).The syndrome elements in patients with Chikungunya hemorrhagic fever predominantly manifested on the defensive exterior,with involvement of the sinew-bone joints,skin-muscle,and spleen.Pathogenic factors were primarily characterized by external winds,dampness,and heat.Factor and cluster analysis result indicated three TCM pathogenesis progression patterns:imbalance of the defensive exterior with wind-dampness conflict and heat transformation;dampness-heat flowing into muscles and meridians causing joint obstruction and qi blood stasis;and dampness-heat congelation resulting in qi mechanism obstruction,consumption of body fluids,and infiltration of the skin.Conclusion Patients with Chikungunya hemorrhagic fever primarily present with fever,joint pain,and rashes.In TCM,this condition falls under the category of"dampness-warmth"syndrome.Its etiology is attributed to pathogens,with transmission occurring through mosquito bites.The core pathogenesis of TCM is the invasion of the defensive exterior and dampness-toxic heat accumulation.The therapeutic principles focus on clearing heat pathogens,resolving dampness pathogens,dispersing wind pathogens,and promoting the resolution of rashes.
6.Characteristics of traditional Chinese medicine syndromes in patients with Chikungunya hemorrhagic fever:a cross-sectional study
Shiying LU ; Danwen ZHENG ; Xintian HONG ; Yuping LIU ; Guangzong LI ; Zhifeng HONG ; Jinghua YANG ; Yan ZHANG ; Banghan DING ; Yuntao LIU ; Yuanyuan WANG ; Xin YIN ; Jingwei SHUI ; Xiaofei FAN ; Hai LAN ; Zhongde ZHANG
Journal of Beijing University of Traditional Chinese Medicine 2025;48(11):1531-1539
Objective To explore the traditional Chinese medicine(TCM)syndrome characteristics of patients with Chikungunya hemorrhagic fever and to provide empirical data to support the application of TCM in diagnosing and treating Chikungunya hemorrhagic fever.Methods A cross-sectional survey was conducted to collect clinical data(sex,age,days since onset,and comorbidity underlying disease conditions)and TCM with four-examination information(symptoms,tongue manifestations,and pulse manifestations)from 255 patients with Chikungunya hemorrhagic fever who visited Lecong Hospital of Shunde,Foshan,the Third People's Hospital of Shunde District of Foshan,Shunde Hospital of Southern Medical University Affiliated Chencun Hospital between July 23 and July 29,2025.Factor and cluster analyses were used to summarize TCM syndrome characteristics and analyze core pathogenesis in conjunction with clinical features.Results Among the 255 patients with Chikungunya hemorrhagic fever,131 were male and 124 were female,with a age of(49.05±17.93)years and a disease duration of(3.26±1.78)days.Among the four types of examination information in TCM,35 items exhibited a frequency exceeding 10%.The most prevalent symptoms were arthralgia(180 patients,70.59%),exanthem(153 patients,60.00%),fatigue(99 patients,38.82%),anhidrosis(98 patients,38.43%),pruritus(96 patients,37.65%),and fever(92 patients,36.08%).Tongue and pulse manifestations were primarily white fur(155 patients,60.78%),pink tongue(111 patients,43.53%),slippery pulse(143 patients,56.08%),and greasy fur(134 patients,52.53%).Patients with disease onset≤3 d had a higher incidence of arthralgia,fatigue,fever,aversion to cold,generalized muscle pain,aversion to wind,insomnia,headache,sweating,low-grade fever,poor appetite,loose stool,hyperhidrosis,and red tongue than those with disease onset≥4 d(P<0.05).Patients with disease onset≥4 d had a higher incidence of pink tongue and thick fur than those with disease onset≤3 d(P<0.05).The syndrome elements in patients with Chikungunya hemorrhagic fever predominantly manifested on the defensive exterior,with involvement of the sinew-bone joints,skin-muscle,and spleen.Pathogenic factors were primarily characterized by external winds,dampness,and heat.Factor and cluster analysis result indicated three TCM pathogenesis progression patterns:imbalance of the defensive exterior with wind-dampness conflict and heat transformation;dampness-heat flowing into muscles and meridians causing joint obstruction and qi blood stasis;and dampness-heat congelation resulting in qi mechanism obstruction,consumption of body fluids,and infiltration of the skin.Conclusion Patients with Chikungunya hemorrhagic fever primarily present with fever,joint pain,and rashes.In TCM,this condition falls under the category of"dampness-warmth"syndrome.Its etiology is attributed to pathogens,with transmission occurring through mosquito bites.The core pathogenesis of TCM is the invasion of the defensive exterior and dampness-toxic heat accumulation.The therapeutic principles focus on clearing heat pathogens,resolving dampness pathogens,dispersing wind pathogens,and promoting the resolution of rashes.
7.Quantitative evaluation of left ventricular myocardial work in patients with systemic scleroderma using pressure-strain loop
Sen MAO ; Yuping JIANG ; Youdong HAN ; Kaihua LIU ; Yue YIN ; Xuyu HE ; Luping ZHAO
Chinese Journal of Rheumatology 2025;29(2):133-138
Objective:To evaluate left ventricular systolic function in patients with systemic scleroderma (SSc) with normal left ventricular ejection fraction using pressure-strain loop (PSL) .Methods:To collect 30 patients with SSc who were treated in the Rheumatology and Immunology Department of Jining Medical University from January 2022 to March 2024 as the observation group, 30 healthy volunteers were selected as the control group after 1:1 matching with the observation group according to the age ±3 years old and the same gender. Clinical and ultrasound data were collected, PSL was used to evaluate and compare the differences between the two groups in left ventricular longitudinal strain (GLS), global work index (GWI), global useful work (GCW), global useless work (GWW) and global work efficiency (GWE), and the statistically significant variables were analyzed by multivariate logistic regression to analyze the independent predictors of early left ventricular function impairment in patients with SSc,and constructed receiver operating characteristic (ROC) curve to analyze the predictive value of GLS, GWI, GCW, GWW and GWE in early left ventricular function impairment in SSc patients.Results:Compared with the control group, the observation group GLS,GWI, GCW and GWE decreased( P<0.05), while the GWW increased( P<0.05). Multivariate logistic regression analysis showed that GLS[ OR(95% CI)=0.51(0.26, 1.02), P=0.055]、GWI[ OR(95% CI)=1.00(0.99, 1.01), P=0.969)、GCW[ OR(95% CI)=1.00(0.99, 1.02), P=0.771]、GWW[ OR(95% CI)=0.90(0.81, 1.01), P=0.075]and GWE[ OR(95% CI)=0.02(0.00, 0.55), P=0.022], in which GWE had the highest significance in predicting left ventricular myocardial work in SSc patients. ROC curve showed that compared with GLS, GWI, GCW and GWW, the area under GWE curve (0.953) was the largest, and the sensitivity of GWE≤94% to predict myocardial damage in SSc patients was 80.0%, and the specificity was 93.3%. The results of the repeatability test showed that the reproducibility of the intra-observer and inter-observer measurements was good. Conclusion:The PSL provides a new method for the quantitative assessment of early left ventricular systolic function impairment in patients with SSc, and GWE can be used as a sensitive index to predict early left ventricular systolic function impairment in patients with SSc.
8.Study of echocardiographic normal reference value of left ventricular remodeling index and left ventricular geometry and function in primary hypertension
Lihua YANG ; Yan DENG ; Yuping LIU ; Ping SHUAI ; Lixue YIN
Chinese Journal of Ultrasonography 2025;34(3):185-193
Objective:To establish the normal reference value of the left ventricular remodeling index(RI)in healthy adults,and to evaluate the phenotypes of RI in various left ventricular geometries and its relationship with left ventricular systolic and diastolic functions in asymptomatic hypertensive patients.Methods:A retrospective study design was employed,906 healthy Han Chinese volunteers were selected as the control group from the multicenter study "Echocardiographic Measurements in Normal Chinese Adults"(EMINCA),which was conducted in 2012. The normal reference range of left ventricular RI was established based on the 95% CI( xˉ ± 1.96 s). Statistical analyses were conducted to evaluate differences in RI across age groups and between genders. A total of 340 asymptomatic hypertensive patients in the Department of Health Management,Sichuan Provincial People's Hospital from July 2023 to March 2024 were prospectively included as the hypertension group. Conventional echocardiography and two-dimensional speckle tracking imaging were used to assess left ventricular structure and function. Parameters such as left ventricular mass index(LVMI),RI,relative wall thickness(RWT),the ratio of early diastolic mitral inflow velocity to the average early diastolic mitral annular velocity(E/e'),and the ratio of early diastolic to late diastolic mitral inflow velocities(E/A)were calculated. Differences of these parameters between the hypertension group and the healthy control group were compared. The hypertension group was stratified into 3 subgroups based on left ventricular posterior wall thickness at end-diastole(LVPWd)and RI:the non-LV hypertrophy group,the left ventricular hypertrophy with normal RI group,and the left ventricular hypertrophy with low RI group. Relevant parameters were compared among these subgroups,and the statistical significance of the differences was analyzed. Pearson correlation analysis and multiple linear regression analysis were performed to explore the relationships between left ventricular RI and GLS,LVEF,the average mitral annular peak systolic velocity(s'),e',E/e',E/A. Results:In the healthy control group,RI showed a declining trend with increasing age in both sexes. Furthermore,the RI was significantly higher in the female group compared to the male group( P<0.001). Compared with the healthy control group,LVMI and E/e' increased while RI,e' and s' decreased in the hypertension group(all P < 0.001). Among the 3 subgroups of the hypertension group,compared with the other two groups,LVMI and E/e' increased while absolute GLS and s' reduced in the left ventricular hypertrophy with low RI subgroup(all P <0.001). Pearson correlation analysis revealed that RI was negatively correlated with GLS and E/e'( r=-0.457,-0.281;all P < 0.001),and positively correlated with LVEF,e',s' and E/A( r=0.229,0.394,0.150,0.172;all P < 0.05). Multivariate linear regression analysis demonstrated that left ventricular RI was independently associated with GLS,LVEF,e',s',E/e' and E/A. Conclusions:The normal reference range of left ventricular RI tends to decrease with age and is typically higher in females than in males. In asymptomatic patients with primary hypertension,RI,systolic and diastolic functions of the left ventricular are lower,while LVMI is higher. Among these patients,functional impairment is more pronounced in patients with left ventricular hypertrophy and reduced RI. This indicates that left ventricular RI may offer an imaging basis for further classification and stratification of structural and functional abnormalities in the left ventricle of asymptomatic hypertensive patients.
9.Clinical efficacy of neoadjuvant chemotherapy combined with radical surgery for elderly patients with locally advanced gastric cancer
Qi JIANG ; Yuqiang DU ; Chenggang ZHANG ; Ming YANG ; Jun FAN ; Jianbo LYU ; Gan MAO ; Qian SHEN ; Xiangyu ZENG ; Weizhen LIU ; Yuping YIN ; Kaixiong TAO ; Peng ZHANG
Chinese Journal of General Surgery 2023;38(4):263-268
Objective:To evaluate the safety and feasibility of neoadjuvant chemotherapy (NACT) combined with radical surgery for elderly patients with locally advanced gastric cancer (LAGC).Methods:One hundred and fourty eight patients with LAGC after NACT and gastrectomy between 2012 and 2020 were retrospectively reviewed. They were divided into two groups: (1) <65 years old (111 cases) and (2) ≥65 years old (37 cases) and their clinicopathological and prognostic data were compared.Results:There was no significant difference between the two groups in the incidence of hematological complications such as anemia ( χ2=0.235, P=0.628), leukopenia ( χ2=0.613, P=0.434), neutropenia ( χ2=0.011, P=0.918) and thrombocytopenia ( χ2=0.253, P=0.615) and non-hematological complications such as nausea ( χ2=0.092, P=0.762), vomiting ( χ2=0.166, P=0.683), diarrhea ( χ2=0.015, P=0.902) and mucositis ( χ2=0.199, P=0.766) due to NACT. There were no statistical differences between the older patients and the younger in operation duration ( t=0.270, P=0.604), intraoperative bleeding ( t=1.140, P=0.250) and R 0 resection rate ( χ2=0.105, P=0.750). The incidence of postoperative complications was 25.2% and 37.8% in the younger patients and the olders ( χ2=2.172, P=0.141). Pleural effusion ( χ2=7.007, P=0.008) and pulmonary infection ( χ2=10.204, P=0.001) was significantly higher in the older patients than in the youngers. The 3-year progression-free survival rate ( t=0.494, P=0.482) and 3-year overall survival rate ( t=0.013, P=0.908) were comparable between the two groups. Conclusions:NACT combined with radical surgery is safe and effective in elderly patients with LAGC, except for higher perioperative pulmonary-related complications.
10.Genetic analysis of a case of mild epilepsy due to variant of SCN9A gene.
Xunqiang YIN ; Yuping NIU ; Yang ZOU ; Yuan GAO
Chinese Journal of Medical Genetics 2023;40(3):344-348
OBJECTIVE:
To explore the genetic etiology of a patient with epilepsy and provide genetic counseling.
METHODS:
A patient who had visited the Center for Reproductive Medicine of Shandong University on November 11, 2020 was selected as the study subject, and her clinic information was collected. Candidate variant was identified through whole exome sequencing (WES), and Sanger sequencing was used for validation. Possible transcriptional changes caused by the variant was detected by reverse transcription-PCR and Sanger sequencing.
RESULTS:
The patient was a 35-year-old female with no fever at the onset, loss of consciousness and abnormal firing in the temporal lobe, manifesting predominantly as convulsions and fainting. WES revealed that she had harbored a heterozygous c.2841+5G>A variant of the SCN9A gene, which was verified by Sanger sequencing. cDNA sequencing confirmed that 154 bases were inserted between exons 16 and 17 of the SCN9A gene, which probably produced a truncated protein and affected the normal function of the SCN9A protein. Based on the guidelines from the American College of Medical Genetics and Genomics, the c.2841+5G>A variant was classified as likely pathogenic (PVS1_Strong+PM2_Supporting).
CONCLUSION
The c.2841+5G>A variant of the SCN9A gene probably underlay the epilepsy in this patient. Above finding has enriched the variant spectrum of the SCN9A gene and provided a basis for the prenatal diagnosis and preimplantation genetic testing for this patient.
Humans
;
Female
;
Pregnancy
;
Adult
;
Epilepsy/genetics*
;
Seizures
;
Exons
;
DNA, Complementary
;
Genetic Counseling
;
NAV1.7 Voltage-Gated Sodium Channel

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