Objective To investigate the value of spleen stiffness measured by transient elastography (FibroScan,FS) for diagnosing esophageal-gastric varices in liver cirrhosis patients.Methods A total of 259 cirrhotic patients in Tianjin Third Central Hospital from Apr 2011 to Apr 2012,and 30 healthy controls were enrolled.All the patients and controls were evaluated for spleen and liver stiffness by FS and 201 cirrhotic patients also underwent gastroscopy for the diagnosis of esophageal-gastric varices.By using gastroscopy as the gold standard,the receiver operating characteristic (ROC) curves of three parameters including spleen stiffness,liver stiffness and platelet/thickness of spleen were delineated for different disease stage.The areas under curves (AUC) were used to evaluate the value of these parameters in the diagnosis of esophageal-gastric varices.Results The spleen and liver stiffness values in cirrhotic patients were (44.64 ± 22.27) kPa and (24.27 ±18.89) kPa,respectively,while those in healthy controls were (20.94± 14.78) kPa and (6.12±5.77) kPa,respectively,which were both lower than cirrhotic patients (P＜0.05).The stiffness values of liver and spleen both increased with higher Child-Pugh scores.And the liver stiffness values were different among groups (F=0.068,P =0.000),while the spleen stiffness values in patients with Child-Pugh A and B were different from that in patients with Child-Pugh C (P＜0.05).In patients with moderate or serious esophageal-gastric varices,the spleen and liver stiffness values were significantly higher.The ROC curve analysis showed that the AUC of spleen stiffness,liver stiffness and platelet/thickness of spleen in the patients with moderate to serious esophageal-gastric varices were 0.918,0.749 and 0.743,respectively.The corresponding optimal cut-off values were 50.7 kPa,20.1 kPa and 1.65.The AUC,sensitivity and specificity of spleen stiffness were all higher than liver stiffness and platelet/thickness of spleen.Conclusion Spleen stiffness measured by transient elastography is a valuable parameter for non-invasive diagnosis of esophageal-gastric varices in cirrhotic patients.

Objective:To summarize the clinical characteristics of children with dystonia 28 (DYT28) caused by KMT2B gene variations so as to improve clinicians′ understanding of the disease. Methods:The clinical manifestations, treatment and gene variation data of 11 children with DYT28 caused by KMT2B gene variations were retrospectively collected and analyzed.The subjects were recruited from the Department of Neurology, Beijing Children′s Hospital, Capital Medical University from March 2018 to January 2021.The patients were followed up. Results:There were 8 males and 3 females.The age at onset was ranging from 1 month to 6 years without inducement.Eight cases were gene-ralized dystonia and 3 cases were multifocal dystonia.The initial symptoms of 7 cases were unilateral or bilateral lower limbs tiptoeing.Four cases presented dysarthria, retching or swallowing difficulties at onset.As the disease progressed, all the cases had laryngeal dystonia, 10 cases had lower limbs dystonia, and 8 cases had upper limbs dystonia.Six cases were complicated with other dyskinesia symptoms.Ten cases had varying degrees of short stature, microcephalus, micrognathia, musculoskeletal abnormalities, intellectual disability, endocrinopathies and sleep difficulties.The brain magnetic resonance imaging showed abnormal in only 1 case.Eleven KMT2B gene pathogenic variants were found, including 8 frameshift variants, 1 in-frame variant and 2 missense variants.Four variants were novel.Eleven cases were followed up at the age of 1 year and 7 months to 17 years and 9 months.One case wasn′t given therapy.The dystonia in 3 cases was mildly improved after medication.Dysfunction of urination and defecation was disappeared in 1 case after medication.The symptom of 6 cases had no improvement after drug therapy.Among the above 6 cases, 5 drug refractory cases had deep brain stimulation, and their dystonia symptoms are all obviously improved; 2 cases had normal control of urination and defecation after deep brain stimulation.The motor scores in the Burke-Fahn-Marsden dystonia rating scale were improved by 55.8%-90.7%, and the disability scores were improved by 14.8%-69.6%. Conclusions:DYT28 caused by KMT2B gene variations is one of the most common and early-onset genetic dystonia in children.The dystonia symptom progresses from local parts to the whole body, prominently involving laryngeal muscles and lower limbs.Control of urination and defecation requires attention.Patients with mild dystonia symptoms can be effectively treated by drugs.However, patients with severe dystonia symptoms were drug refractory, and their dystonia symptoms can be effectively improved by deep brain stimulation.

Dravet syndrome is a epileptic syndrome characterized by drug-resistant epilepsy occuring at childhood. It is often accompanied by status epilepticus and cognitive and language impairment appearing gradually as the disease progresses. The effect of antiepileptic drugs and resection epilepsy surgery on Dravet syndrome is poor although neuromodulation surgery, especially vagus nerve stimulation, is an effective and feasible treatment for Dravet syndrome. In this article we reported a case of Dravet syndrome treated with vagus nerve stimulation, relevant literature was reviewed and summarized at the same time. A total of 141 cases of Dravet treated by vagus nerve stimulation were collected, and the overall effective rate was 53.9%.

Objective To investigate the influencing factors for rebleeding after gastroscopy in patients with liver cirrhosis and esophagogastric variceal bleeding. Methods A retrospective analysis was performed for the clinical data of the patients with liver cirrhosis and esophagogastric variceal bleeding who were hospitalized in Tianjin Third Central Hospital from January 1, 2017 to December 31, 2018, and according to the presence or absence of rebleeding and bleeding time, the patients were divided into non-bleeding group ( n =148) and bleeding group ( n =119). The risk factors for rebleeding after gastroscopy were analyzed. The t -test or the Mann-Whitney U test was used for comparison of continuous data between two groups, and the chi-square test was used for comparison of categorical data between two groups. The Cox regression model was used for univariate and multivariate analyses. The receiver operating characteristic (ROC) curve was used to evaluate the accuracy of Child-Turcotte-Pugh (CTP), fibrosis-4 (FIB-4), and albumin-bilirubin (ALBI) scores in predicting rebleeding after gastroscopy, and MedCalc was used to compare the area under the ROC curve (AUC). Results A total of 267 patients with liver cirrhosis and esophagogastric variceal bleeding were enrolled, among whom 53 (19.9%) had liver cancer. A total of 119 patients suffered from rebleeding, with an overall rebleeding rate of 44.6% and a median time to rebleeding of 11.0 (0-39.0) months. The univariate Cox regression analysis showed that liver cancer (hazard ratio [ HR ]=0.377, P < 0.001), aspartate aminotransferase (AST) ( HR =1.002, P =0.025), serum Na ( HR =0.935, P =0.004), and FIB-4 ( HR =1.030, P =0.049) were associated with rebleeding, and the multivariate Cox regression analysis showed that liver cancer ( HR =0.357, P < 0.001), AST ( HR =1.003, P =0.030), prothrombin time (PT) ( HR =0.196, P =0.001), CTP score ( HR =1.289, P =0.014), FIB-4 ( HR =1.062, P =0.033), and ALBI score ( HR =0.433, P =0.011) were independent risk factors for rebleeding. CTP, FIB-4, and ALBI scores had an AUC of 0.711 (95% confidence interval [ CI ]: 0.647-0.776), 0.705 (95% CI : 0.640-0.770), and 0.730 (95% CI : 0.667-0.793), respectively, in predicting rebleeding. There was no significant difference in AUC between CTP, FIB-4, and ALBI scores ( P > 0.05). Conclusion Liver cancer, AST, PT, CTP score, FIB-4 score, and ALBI score are associated with rebleeding after gastroscopy in patients with liver cirrhosis and esophagogastric variceal bleeding, among which CTP, FIB-4, and ALBI scores have a good value in predicting rebleeding outcome, while there is no significant difference in predictive ability between them.