Case report of epileptic encephalopathy caused by a new mutation of cyclin-dependent kinase-like 5 gene / 中华实用儿科临床杂志

Objective:To investigate the clinical characteristics, diagnosis and treatment status, and existing problems of early infantile epileptic encephalopathy type 2 (EIEE2) caused by de novoa mutation of cyclin-dependent kinase-like 5 gene (CDKL5).Methods:The medical history, auxiliary examination and diagnosis and treatment characteristics of 1 case with EIEE2 caused by de novoa mutation of CDKL5 gene in neonatal department of Children′s Hospital of Nanjing Medical University on August 12, 2019 were retrospectively analyzed.Combined with relevant literatures, the clinical diagnosis and treatment ideas and future prospects of this disease were summarized.Results:The patient was a female child with the age of 13 days and 23 hours.The main clinical manifestation was recurrent convulsion which was not alleviated significantly after using antiepileptic drug.The second-generation sequencing detected c. 119C>T/ p. A40V heterozygous mutation of CDKL5 gene, which was de novo mutation.Conclusions:EIEE2 caused by de novoa mutation of CDKL5 gene is a rare disease worthy of attention.Early detection and genetic diagnosis are the key to improve the diagnosis and treatment rate.

Diagnosis of symptomatic patent ductus arteriosus / 国际儿科学杂志

Patent ductus arteriosus (PDA) is a common disease of premature.The complications of symptomatic patent ductus arteriosus(sPDA) include respiratory disorders,intraventricular hemorrhage,necrotizing enterocolitis,pulmonary hemorrhage,bronchopulmonary dysplasia,retinopathy,death,etc.This review aims to introduce typical clinical manifestations of sPDA,specific echocardiography performance,new inspection methods and PDA scores for prognosis.

Imaging performance of hepatic inflammatory myofibroblastic tumor / 中国医学影像技术

Objective To assess the radiological imaging findings of hepatic inflammatory myofibroblastic tumor and to discuss the appropriate morphological classification.Methods A total of 22 patients with hepatic inflammatory myofibroblastic tumor confirmed by pathology were enrolled.Imaging performance of hepatic inflammatory myofibroblastic tumor were analyzed and the lesions were classified into appropriate type based on the imaging findings.Results Totally 23 lesions were found in 22 patients.The typical imaging features included great enhancement at later phase (13/20),moth eat en central necrosis (12/23) and peripheral shell (12/23).Seed in fruit was the most typical classification (8/23),followed by Seedless fruit (7/23).Conclusion Hepatic inflammatory myofibroblastic tumur typically shows as a single nodular lesion with moth eaten necrosis and peripheral shell like a Seed in fruit.The enhancement at later phase (especially the peripheral enhancement) can be regarded as a particular feature.

Study advances on the roles of apoptosis in hepatocellular carcinoma therapy / 实用肿瘤学杂志

Hepatocellular carcinoma ( HCC ) is one of the commonest malignant tumors in China .The therapeutic effects of conventional therapies including surgery resection at early stage ,chemotherapy or radiothera-py are greatly less than expected .One of the most possible reasons is the blockage of apoptosis in HCC cells .This review collects literatures about the studies on the roles of key signal pathways including RA ,STAT3,PDT,p53,β-catenin,TRAIL,microRNA and RAS in HCC therapy .This study may contribute greatly to providing outline in-sights for using apoptosis induction in liver cancer therapy .We hope it can promote the development liver cancer therapy in China .

A study of impact of stent implantation in distal common bile duct on duodenal-biliary reflux / 中华放射学杂志

Objective This study aimed to investigate the incidence and the cause for duodenalbiliary reflux and reflux cholangitis after metallic stent placement in distal common bile duct Methods After percutaneous transhepatic bile duct puncture and biliary outside drainage was performed, 16 cases with malignant distal biliary stricture underwent metallic stent placement in distal common bile duct Before stent placement, the routine laboratory studies including leukocyte, neutrophil percentage and the levels of total bilirubin and direct bilirubin in blood were performed for all patients. Two to five days [ an average of (3.3 ±0. 9) days ] after stent implantation, the above indexes were tested again, and 1 ml of water containing 185 MBq of 99Tcm-DTPA was given orally before extubation, then 99Tcm radioactivity in the bile was detected 2 hours later. For the measurement data obtained from the experiment, t test or Wilcoxon signed rank test was adopted to compare them, and P ＜ 0. 05 was considered to be statistically different Results In 14 cases, radioactivity was successfully detected in the bile 2-5 days after stent implantation. Twelve of them was detected to have radioactivity in the bile 2 hours before extubation with duodenal-biliary reflux. The technetium count in the bile accounted for 1.82% of the total intake dose. There was no radioactivity in the bile in 2 cases. In 14 patients, there were no symptoms of cholangitis such as high fever, chills, increased jaundice, and so on after stent implantation. The mean of white blood cell count was (7.59 t2. 62) × 109/L, and the median of neutrophil percentage was 0. 74. Compared with those before stent implantation, the difference did not reach statistical significance ( t = 0. 423, Z = 1. 036, P ＞ 0. 05 ).After stent implantation, the median of total bilirubin and direct bilirubin were significantly lower, which were 92. 2 and 74. 3 μmol/L. Compared with those before stenting,the difference was statistically significant (Z= -3. 170, -3. 170, P ＜0.05). Conclusions There is a high incidence of duodenal-biliary reflux after stent implantation in distal common bile duct in the early stage. However, there is no simultaneous cholangitis caused by duodenal-biliary reflux.

Clinical application of percutanously interventional therapeusis in patients with hepatocellular carcinoma accompanied with bile duct thrombosis / 中华放射学杂志

Objective To explore the method and value of percutanously interventional therapeusis for treatment of obstructive jaundice caused by hepatocellular carcinoma accompanied with bile duct thrombosis.Methods Sixteen cases with bile duct thrombosis proved by pathology and imaging examinations were retrospectively analyzed.According to the clinical symptoms, all the patients received percutaneous transhepatic biliary drainage (PTBD) including permanent external drainage, temporary internal drainage and implantation of covered stents.Serum total bilirubin (TBIL) after the interventional therapeusis were measured and compared with that before the treatments by t test to evaluate the efficacy of these treatments.The relief of clinical symptoms was also reviewed to evaluate the efficacy of these treatments.The patients were followed up within 2 years.Results The PTBD was successfully performed in 16 cases.Permanent external drainage, temporary internal drainage and implantation of covered stents were performed in 2 patients, 7 patients and 7 patients respectively.TBIL after the interventional therapy decreased significantly (t=7.366, P<0.01) to (161.2±80.5) μmol/L averagely from (261.9±77.2)μmol/L before the treatments.All the patients died before the end of followed-up.The average survival time was 204 days (30 to 391 d)and the median survival time was 200 days.Bleeding and infection were the main complications, which could be controlled successfully by routine treatments.Conclusion With high achievement ratio and good efficacy, percutanously interventional therapeusis are good choices for the treatments of obstructive jaundice due to bile duct thrombosis.