The clinical characteristics of a neonatal patient with movement disorder and arthrogryposis (NDEEMA) caused by gain-of-function mutation of the SCN1A gene were reported in this article. The 1-year-and-9-month-old boy started seizures since 2 hours after birth. He had funnel-breast, dislocation of the hip, and bipedal varus. Genetic testing showed SCN1A gene de novo missense mutation c.706A>G(p.Ile236Val), causing overall gain-of-function effect. The frequency of seizures decreased significantly after treatment of oxcarbazepine.

Objective:To explore the clinical efficacy and safety of endoscopic multi-band ligation (EMBL) in the management of refractory gastroesophageal reflux disease (RGERD) combined with esophageal hiatal hernia (HH).Methods:This study was a prospective, multicenter, small-sample cohort study. Patients who were diagnosed as having RGERD combined with HH at Inner Mongolia Medical University Cancer Hospital and Inner Mongolia Medical University Hospital from January 2020 to June 2022 were selected to undergo EMBL. The 24-hour esophageal pH monitoring and high-resolution manometry (HRM) related indicators, gastroesophageal reflux index (GERI), gastroesophageal reflux disease questionnaire (GERD-Q) scores, and gastroesophageal reflux disease health-related quality of life (GERD-HRQL) scores were compared before and after the operation. The patient satisfaction and complications were also investigated.Results:A total of 25 patients were included, all of whom were successfully treated with EMBL. Reflux symptoms were relieved to varied degrees in all patients. There were no serious complications during or after the operation, such as perforation, bleeding, and dysphagia. Postoperative follow-up at 6 and 12 months showed a significant decrease in DeMeester scores [18.00 (5.83, 54.75) points, 16.30 (4.38, 60.00) points] compared to preoperative baseline [105.00 (60.80, 147.70) points, Z=-3.72, P<0.001; Z=-3.82, P<0.001]. The percentage of time of pH<4 [8.80 (6.10, 11.80)%, 8.95 (5.15, 10.90)%] significantly decreased compared to the baseline [31.15 (16.75, 54.75)%, Z=-3.72, P<0.001; Z=-3.72, P<0.001], the number of long refluxes [7.90 (4.93, 11.75) times, 6.90 (4.00, 10.75) times] significantly decreased compared to the baseline [33.00 (13.00, 43.00) times, Z=-3.82, P<0.001; Z=-3.58, P<0.001], and the number of acid refluxes (14.86±8.71 times, 12.93±5.51 times) significantly decreased compared to before (30.42±17.99 times, t=5.88, P<0.001; t=4.79, P<0.001). Lower esophageal sphincter resting pressure [9.70 (5.80, 19.58) mmHg, 11.70 (5.40, 19.78) mmHg] was significantly higher compared to before [4.70 (3.25, 7.00) mmHg, Z=-2.84, P<0.001; Z=-3.10, P<0.001]. GERD-Q scores (10.00±2.01 points, 9.43±1.74 points) were significantly higher compared to before (15.34±1.51 points, t=8.90, P<0.001; t=9.87, P<0.001), GERD-HRQL scores [7.00 (5.00, 7.75) points, 6.00 (5.75, 8.25) points] significantly decreased compared to preoperative baseline [13.50 (11.00, 21.25), Z=-3.73, P<0.001; Z=-3.72, P<0.001], and GERI (2.26%±1.58%, 2.07%±1.17%) significantly decreased compared to before (5.72%±2.27%, t=8.92, P<0.001; t=9.86, P<0.001). At 6 and 12 months postoperative follow-up, patient satisfaction [68.00% (15/25), 84.00% (21/25)] significantly increased compared to before [0.00% (0/25), Z=-4.63, P<0.001; Z=-6.48, P<0.001]. Conclusion:Preliminary small-sample study has shown that EMBL is safe, reliable and effective for the treatment of RGERD with HH.

Objective:To explore the related factors affecting the prognosis of primary vulvar malignant tumors after initial treatment.Methods:The clinical and follow-up data of 228 patients with primary malignant tumor of the vulvar who received initial treatment at Liaoning Cancer Hospital from January 1,2005 to September 30,2018 were collected.Univariate and multivariate Cox regression analysis were used to identify factors affecting the overall survival rate(OS)of primary vulvar malignancies.Results:The median age of 228 patients of primary vulvar ma-lignant tumors was 55(15-80),with a median follow-up time of 78 months.The 3-year progression free survival(PFS)rate was 72.8％,the 3-year OS rate was 76.4％,the 5-year OS was 70.7％.The results of univariate anal-ysis showed that age,tumor diameter,lymph node metastasis,clinical stage and treatment method were all related to 5-year OS(P＜0.05),Multivariate COX regression analysis showed that age＞60 years(OR 3.96,95％CI 1.90-6.01),tumor diameter＞4 cm(OR3.58,95％CI 2.02-6.37),and lymph node metastasis(OR 1.85,95％CI 1.28-3.00)were independent risk factors affecting 5-year OS after initial treatment(P＜0.05).Conclusions:Age,tumor diameter and inguinal lymph node status are related factors that affect the prognosis of primary vulvar malignant tumors after initial treatment.If high-risk factors exist,such as lymph node metastasis after operation or large tumor lesions,it is recommended to supplement radiotherapy and chemotherapy to improve survival progno-sis.

Objective:To explore the related factors affecting the prognosis of primary vulvar malignant tumors after initial treatment.Methods:The clinical and follow-up data of 228 patients with primary malignant tumor of the vulvar who received initial treatment at Liaoning Cancer Hospital from January 1,2005 to September 30,2018 were collected.Univariate and multivariate Cox regression analysis were used to identify factors affecting the overall survival rate(OS)of primary vulvar malignancies.Results:The median age of 228 patients of primary vulvar ma-lignant tumors was 55(15-80),with a median follow-up time of 78 months.The 3-year progression free survival(PFS)rate was 72.8％,the 3-year OS rate was 76.4％,the 5-year OS was 70.7％.The results of univariate anal-ysis showed that age,tumor diameter,lymph node metastasis,clinical stage and treatment method were all related to 5-year OS(P＜0.05),Multivariate COX regression analysis showed that age＞60 years(OR 3.96,95％CI 1.90-6.01),tumor diameter＞4 cm(OR3.58,95％CI 2.02-6.37),and lymph node metastasis(OR 1.85,95％CI 1.28-3.00)were independent risk factors affecting 5-year OS after initial treatment(P＜0.05).Conclusions:Age,tumor diameter and inguinal lymph node status are related factors that affect the prognosis of primary vulvar malignant tumors after initial treatment.If high-risk factors exist,such as lymph node metastasis after operation or large tumor lesions,it is recommended to supplement radiotherapy and chemotherapy to improve survival progno-sis.

The clinical characteristics of a neonatal patient with movement disorder and arthrogryposis (NDEEMA) caused by gain-of-function mutation of the SCN1A gene were reported in this article. The 1-year-and-9-month-old boy started seizures since 2 hours after birth. He had funnel-breast, dislocation of the hip, and bipedal varus. Genetic testing showed SCN1A gene de novo missense mutation c.706A>G(p.Ile236Val), causing overall gain-of-function effect. The frequency of seizures decreased significantly after treatment of oxcarbazepine.

Objective:To explore the clinical efficacy and safety of endoscopic multi-band ligation (EMBL) in the management of refractory gastroesophageal reflux disease (RGERD) combined with esophageal hiatal hernia (HH).Methods:This study was a prospective, multicenter, small-sample cohort study. Patients who were diagnosed as having RGERD combined with HH at Inner Mongolia Medical University Cancer Hospital and Inner Mongolia Medical University Hospital from January 2020 to June 2022 were selected to undergo EMBL. The 24-hour esophageal pH monitoring and high-resolution manometry (HRM) related indicators, gastroesophageal reflux index (GERI), gastroesophageal reflux disease questionnaire (GERD-Q) scores, and gastroesophageal reflux disease health-related quality of life (GERD-HRQL) scores were compared before and after the operation. The patient satisfaction and complications were also investigated.Results:A total of 25 patients were included, all of whom were successfully treated with EMBL. Reflux symptoms were relieved to varied degrees in all patients. There were no serious complications during or after the operation, such as perforation, bleeding, and dysphagia. Postoperative follow-up at 6 and 12 months showed a significant decrease in DeMeester scores [18.00 (5.83, 54.75) points, 16.30 (4.38, 60.00) points] compared to preoperative baseline [105.00 (60.80, 147.70) points, Z=-3.72, P<0.001; Z=-3.82, P<0.001]. The percentage of time of pH<4 [8.80 (6.10, 11.80)%, 8.95 (5.15, 10.90)%] significantly decreased compared to the baseline [31.15 (16.75, 54.75)%, Z=-3.72, P<0.001; Z=-3.72, P<0.001], the number of long refluxes [7.90 (4.93, 11.75) times, 6.90 (4.00, 10.75) times] significantly decreased compared to the baseline [33.00 (13.00, 43.00) times, Z=-3.82, P<0.001; Z=-3.58, P<0.001], and the number of acid refluxes (14.86±8.71 times, 12.93±5.51 times) significantly decreased compared to before (30.42±17.99 times, t=5.88, P<0.001; t=4.79, P<0.001). Lower esophageal sphincter resting pressure [9.70 (5.80, 19.58) mmHg, 11.70 (5.40, 19.78) mmHg] was significantly higher compared to before [4.70 (3.25, 7.00) mmHg, Z=-2.84, P<0.001; Z=-3.10, P<0.001]. GERD-Q scores (10.00±2.01 points, 9.43±1.74 points) were significantly higher compared to before (15.34±1.51 points, t=8.90, P<0.001; t=9.87, P<0.001), GERD-HRQL scores [7.00 (5.00, 7.75) points, 6.00 (5.75, 8.25) points] significantly decreased compared to preoperative baseline [13.50 (11.00, 21.25), Z=-3.73, P<0.001; Z=-3.72, P<0.001], and GERI (2.26%±1.58%, 2.07%±1.17%) significantly decreased compared to before (5.72%±2.27%, t=8.92, P<0.001; t=9.86, P<0.001). At 6 and 12 months postoperative follow-up, patient satisfaction [68.00% (15/25), 84.00% (21/25)] significantly increased compared to before [0.00% (0/25), Z=-4.63, P<0.001; Z=-6.48, P<0.001]. Conclusion:Preliminary small-sample study has shown that EMBL is safe, reliable and effective for the treatment of RGERD with HH.

Background:Aberrant expression of mucin 6(MUC6)is involved in multiple inflammatory diseases and cancers.Investigation on the role of MUC6 in reflux esophagitis(RE)is of great importance for early diagnosis and treatment of the disease.Aims:To investigate the relationship between MUC6 and RE,so as to provide theoretical basis for the early diagnosis and treatment of RE.Methods:Expression of MUC6 in normal gastroesophageal junction(GEJ)tissue,and GEJ tissues in mild-to-moderate RE(LA-A/B)and severe RE(LA-C/D),as well as in non-,low-,and high-grade intraepithelial neoplasia(non-GIN,LGIN and HGIN)was detected by immunohistochemistry.The relationship between MUC and the clinical futures of RE was analyzed.Results:MUC6 mainly expressed in the cell membrane and cytoplasm.Its expression was negative or weakly positive in normal GEJ tissue(20％,2/10)and strongly positive in GEJ tissues of RE patients(100％,25/25).MUC expression was not correlated with the gender,age,body mass index and Barrett esophagus(all P＞0.05).Significant correlations were observed between MUC6 expression and the hiatal hernia(HH;non-HH,HH＜3 cm and ≥3 cm in diameter),severity of RE(normal GEJ,mild-to-moderate RE,and severe RE),and intraepithelial neoplasia(non-GIN,LGIN,and HGIN)(all P＜0.05).Conclusions:MUC6 is positively correlated with the severity of RE.

Background:Aberrant expression of mucin 6(MUC6)is involved in multiple inflammatory diseases and cancers.Investigation on the role of MUC6 in reflux esophagitis(RE)is of great importance for early diagnosis and treatment of the disease.Aims:To investigate the relationship between MUC6 and RE,so as to provide theoretical basis for the early diagnosis and treatment of RE.Methods:Expression of MUC6 in normal gastroesophageal junction(GEJ)tissue,and GEJ tissues in mild-to-moderate RE(LA-A/B)and severe RE(LA-C/D),as well as in non-,low-,and high-grade intraepithelial neoplasia(non-GIN,LGIN and HGIN)was detected by immunohistochemistry.The relationship between MUC and the clinical futures of RE was analyzed.Results:MUC6 mainly expressed in the cell membrane and cytoplasm.Its expression was negative or weakly positive in normal GEJ tissue(20％,2/10)and strongly positive in GEJ tissues of RE patients(100％,25/25).MUC expression was not correlated with the gender,age,body mass index and Barrett esophagus(all P＞0.05).Significant correlations were observed between MUC6 expression and the hiatal hernia(HH;non-HH,HH＜3 cm and ≥3 cm in diameter),severity of RE(normal GEJ,mild-to-moderate RE,and severe RE),and intraepithelial neoplasia(non-GIN,LGIN,and HGIN)(all P＜0.05).Conclusions:MUC6 is positively correlated with the severity of RE.

Objective To investigate the diagnosis and prognosis value of plasma microRNA-30d (miR-30d)in acute coronary syndrome(ACS)patients.Methods It retrospectively recruited 170 cases of ACS patients from TEDA International Cardiovascular Hospital between September 2011 to February 2012, including 70 STEMI(male 54,female 16), 52 NSTEMI(male 34,female 18),48 UAP(male 29,female 19).At the same time,41 healthy controls(male 24,female 17)were enrolled into the study.Plasma miR-30d levels were determined by real-time quantitative PCR.In order to evaluate the dynamic change of miR-30d and other cardiac biomarkers,20 plasma samples of AMI patients were collected at 0-3 h,4-6 h,7-9 h, 10-12 h after pectoralgia.ROC curves and Kaplan-Meier survival curve were used to investigate clinical value of miR-30d in ACS.Results At 0-3 h after pectoralgia, miR-30d were significant higher in STEMI 7.208(0.170-11 070.735)and NSTEMI 7.989(0.836-151.391)than the controls 1.561(0.044-17.520)（Z1＝-5.792,Z2 ＝-6.113,P＜0.001）, but there were no statistic differences between UAP 1.073 （0.051-11.095）patients and the controls（Z＝-0.325,P＝0.745）.In 20 AMI patients,miR-30d levels peaked at 4-6 h and then dropped following 7-9 h, both earlier than cTnI, and the variation tendency was positive correlated with cTnI（r＝0.402,P＜0.01）.At 0-3 h after pectoralgia, the AUC, sensitivity and specificity of miR-30d for differentiating AMI and UAP were 0.882（95％ CI:0.830-0.935）,0.795（95％CI:0.711-0.861）and 0.854（95％ CI:0.716-0.935）respectively.When combined miR-30d and cTnI, the diagnostic AUC and specificity were 0.937（95％ CI: 0.902-0.972）and 0.937（95％ CI:0.818-0.984）,both enhanced when compared with miR-30d or cTnI alone.Kaplan-Meier survival curves revealed that there were no significant correlations between the miR-30d levels and MACE in both 30 days and 12 months（χ$lt@span sup=1$gt@2$lt@/span$gt@＝0.506,P＝0.477 and χ$lt@span sup=1$gt@2$lt@/span$gt@＝0.002, P＝0.963 respectively）.Conclusion Plasma miR-30d may be used as a potential biomarker for early diagnosis, but not prognosis in ACS patients.

Objective: To analyze clinical characteristics and risk factors in patients with acute myocardial infarction (AMI) complicated with cardiac rupture (CR) and to explore the prevention and treatment strategy in clinical practice. Methods: A case control study was conducted in 2 groups: CR group, the patients with coronary angiography conifrmed AMI with CR,n=44 and Control group, the patients with simultaneous STEAMI and by 1:3 pair-matched ratio,n=132. Clinical information was compared between 2 groups and the relevant risk factors for predicting CR were studied by Logistic regression analysis. Results: Compared with Control group, CR group had the lower ratio of β-receptor blocker application (22.7% vs 81.4%),P<0.05. Univariate regression analysis indicated that lower body mass index, incipient MI, anterior MI, no-reperfusion therapy, delayed reperfusion therapy, lower blood pressure at admission, post-infarction angina, ventricular aneurysm, higher Gensini score, high blood levels of cretinine and BNP, low ejection fraction were the risk factors for CR occurrence in STEAMI patients, allP<0.05. Multivariate regression analysis presented that incipient MI (P<0.049, OR=7.462), post-infarction angina (P<0.000, OR=8.591), ventricular aneurysm (P<0.005, OR=4.617) and higher Gensini score (P<0.001, OR=2.788) were risk factors for CR occurrence in STEAMI patients. Conclusion: Incipient MI, post-infarction angina, ventricular aneurysm and higher Gensini score are the risk factors for CR occurrence in STEAMI patients.