Objective To investigate the historical evolution and the research progress of pancreaticoenterostomy method in the pancreaticoduodenectomy. Methods The related literatures of PubMed， EMBASE， Wanfang， CNKI， and VIP databases were retrieved and reviewed. The advantages and disadvantages of various pancreaticojejunostomy type in pancreaticoduodenectomy were summarized. Results The type of pancreaticoenterostomy is the major influence factors for the pancreaticoduodenectomy success or failure and the patients’s recovery. Conclusion According to the specific cases， the type of pancreaticojejunostomy in skilled operation is the key to success.
ObjectiveTo investigate the neural mechanisms of subjects with anisometropic amblyopia using event-related potential (ERP) technology.MethodsNineteen subjects diagnosed with anisometropic amblyopia were consecutively recruited from the outpatients of the West China Hospital of Sichuan University from June 2013 to February 2014, and twenty normal subjects were recruited as control subjects. All subjects were given different orientation Gabor stimuli with three spatial frequencies (1, 2, 8 cpd) and their ERP was recorded. The differences of P3b, including amplitude and latency, were compared between amblyopic eye and fellow or control eye.ResultsAmong the three groups of amblyopic eye and fellow or control eye, there was no statistically significant difference in accuracy or response time at three spatial frequencies (P>0.05), in latency or amplitude of P3b at low spatial frequencies (1, 2 cpd) ((P>0.05), or in amplitude of P3b at high spatial frequency (8 cpd) (P>0.05). P3b latency of amblyopic eye extended at high spatial frequency (8 cpd), compared to fellow or control eye. Amblyopic eye was most significantly weakened in Brodmann area 17 at the P3b wave of each spatial frequency (1, 2, 8 cpd), and there was most significantly weakened in high spatial frequency (8 cpd).ConclusionThe P3b latency of amblyopic eye extended at high spatial frequency suggests that the cognitive function of amblyopia is impaired, at an extent, in the late visual processing stage.
ObjectiveTo review the definition and possible etiologies for C5 palsy. MethodsThe literature on C5 palsy at home and abroad in recent years was extensively reviewed, and the possible etiologies were analyzed based on clinical practice experience. ResultsThere are two main theories (nerve root tether and spinal cord injury) accounting for the occurrence of C5 palsy, but both have certain limitations. The former can not explain the occurrence of C5 palsy after anterior cervical spine surgery, and the latter can not explain that the clinical symptoms of C5 palsy is often the motor dysfunction of the upper limb muscles. Based on the previous reports, combining our clinical experience and research, we propose that the occurrence of C5 palsy is mainly due to the instrumental injury of anterior horn of cervical spinal cord during anterior cervical decompression. In addition, the C5 palsy following surgery via posterior approach may be related to the nerve root tether caused by the spinal cord drift after decompression. ConclusionIn view of the main cause of C5 palsy after cervical decompression, it is recommended to reduce the compression of the spinal cord by surgical instruments to reduce the risk of this complication.
Objective A prospective randomized controlled trial was conducted to study the effectiveness and safety of intravenous different doses tranexamic acid (TXA) in single-level unilateral minimally invasive transforaminal lumbar interbody fusion (MIS-TLIF). Methods The patients treated with single-level unilateral MIS-TLIF between September 2019 and October 2020 were enrolled and randomly classified into low-dose TXA (LD) group (n=39), high-dose TXA (HD) group (n=39), and placebo-controlled (PC) group (n=38). The LD, HD, and PC groups received intravenous TXA 20 mg/kg, TXA 50 mg/kg, the same volume of normal saline at 30 minute before skin incision after general anesthesia, respectively. There was no significant difference on baseline characteristics and preoperative laboratory results among 3 groups (P>0.05), including age, gender, body mass index, surgical segments, hematocrit (HCT), hemoglobin (HGB), prothrombin time (PT), international normalized ratio (INR), D-dimer, fibrin degradation products (FDP), activated partial prothromboplastin time (APTT), alanine aminotransferase (ALT), aspartate aminotransferase (AST), creatinine (Cr), urea. The intraoperative blood loss (IBL), postoperative drainage volume, operation time, total blood loss (TBL), hidden blood loss (HBL), blood transfusion, hematological examination indexes on the first day after operation, and the incidence of complications within 1 month were compared among the 3 groups. Results There were 3, 2, and 4 patients in the LD, HD, and PC groups who underwent autologous blood transfusion, respectively, and there was no allogeneic blood transfusion patients in the 3 groups. There was no significant difference in IBL, postoperative drainage volume, and operation time between groups (P>0.05). The TBL, HBL, and the decreased value of HGB in LD and HD groups were significantly lower than those in PC group (P<0.05), and TBL and HBL in HD group were significantly lower than those in LD group (P<0.05); the decreased value of HGB between LD group and HD group showed no significant difference (P>0.05). On the first day after operation, D-dimer in LD and HD groups were significantly lower than that in PC group (P<0.05); there was no significant difference between LD and HD groups (P>0.05). There was no significant difference in other hematological indexes between groups (P>0.05). All patients were followed up 1 month, and there was no TXA-related complication such as deep venous thrombosis of lower extremity, pulmonary embolism, and epilepsy in the 3 groups. ConclusionIntravenous administration of TXA in single-level unilateral MIS-TLIF is effective and safe in reducing postoperative TBL and HBL within 1 day in a dose-dependent manner. Also, TXA can reduce postoperative fibrinolysis markers and do not increase the risk of thrombotic events, including deep venous thrombosis and pulmonary embolism.
ObjectiveTo explore the genotype and phenotype of PCDH19 gene related epilepsy.Methods41 probands, including 39 girls and 2 boys collected from pediatric department of the Peking University and Neurology Department of Wuhan Children's Hospital from February 2005 to April 2017, were diagnosed as PCDH19 gene related epilepsy. The clinical features of the probands and affected relatives were retrospectively analyzed. PCDH19 mutations were detected by Sanger sequencing or targeted next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA).Results40 in 41 probands with PCDH19 mutations were detected by sequencing and one was detected by MLPA.Two male epilepsy patients with mosaic PCDH19 mutations were detected by NGS with the mutant allele fraction of 85% and 33%. Among 39 female probands, 19 were with inherited mutations and 20 were de novo mutations. The penetrance of females with PCDH19 mutation was estimated as 90% (53/59). Twelve hemizygous fathers and one mosaic father were asymptomatic.The clinical phenotypes of female mutation carriers included epilepsy with mental retardation, Dravet syndrome, febrile seizures, or even asymptomatic. The phenotypic heterogeneity was noticed in females with identical mutations even in members from the same family. The median seizure onset age of 46 patients (including 41 probands and 5 affected relatives) were 11 months (range 4~42months).During the course, 87% (40/46) patients experienced generalized tonic clonic seizures (GTCSs) and 69.6% (32/46) experienced focal seizures. Other rare seizures types included myoclonic seizures (6/46), absence seizures (3/46) and atonic seizures (1/46). Seizures in clusters were observed in all patients, fever sensitivity in 80.4% (37/46), and status epilepticusin only three, cognitive impairment in 76% (35/46) and 7 with autistic features.ConclusionMutations in PCDH19 can be inherited or de novo. Most patients are females, rare mosaic males can be affected or asymptomatic. PCDH19 gene related epilepsy shows incomplete penetrance and variable expressivity.Seizures occurring in clusters and sensitive to fever are the major features.
ObjectiveBenign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We aim to investigate gene mutations and the relationship between genotypes and clinical phenotypes in benign familial epilepsies in the first year of life.MethodsWe recruited families with benign familial epilepsies in the first year of life at Peking University First Hospital from September 2006 to January 2018. Clinical information and blood samples were obtained from probands and their family members. For BFIE families, mutation screening of PRRT2 was performed by using the polymerase chain reaction (PCR) and Sanger sequencing at first. The PRRT2 mutation negative probands of BFIE families were further screened for pathogenic mutations by targeted next-generation sequencing. The probands of BFNE and BFNIE families were screened for pathogenic mutations by targeted next-generation sequencing.ResultsA total of 89 families with benign familial epilepsies in the first year of life were collected. Of the 89 families, 4 were classified as BFNE, 7 as BFNIE, and 78 as BFIE. Genetic testing led to the identification of gene mutations in 68 families (76.4%), including 50 families had PRRT2 mutations (hotspot mutation c.649dupC was detected in 32 families; c.649delC was detected in 6 families), 9 families had KCNQ2 mutations, 8 families had SCN2A mutations, and one family had GABRA6 mutation. In the 4 BFNE families, causative mutations were only found in KCNQ2, which was identified as the causative gene in 3 families. The remaining one BFNE family was not detected with any pathogenic mutation. All 7 BFNIE families had identifiable gene mutations, KCNQ2 was found in 3 families, SCN2A in 3 families, and PRRT2 in one family. In the 78 BFIE families, gene mutations were identified in 58 families (74.4%), with PRRT2 mutations found in 49 families (62.8%), SCN2A mutations found in 5 families, KCNQ2 mutations found in 3 families, and a novol GABRA6 mutation found in one family. Twenty BFIE families were not identified with any gene mutations. In 78 BFIE families, 18 were subclassified as infantile convulsions with paroxysmal choreoathetosis syndrome(ICCA). 17 of 18 ICCA families were detected with PRRT2 mutations (17/18, 94.4%). The remaining ICCA family was not detected with any pathogenic mutation.ConclusionsOur results confirmed that mutations in KCNQ2, SCN2A, and PRRT2 are major genetic causes of benign familial epilepsy in the first year of life in the Chinese population. KCNQ2 is the major gene related to BFNE. PRRT2 is the main gene responsible for BFIE. KCNQ2 and SCN2A mutations are common in BFNIE families. GABRA6 mutation might be a new cause of BFIE. Identification of underlying gene mutation can be helpful for clinical diagnosis and judgement of the prognosis.
ObjectiveTo summarize the clinical phenotype, electrophysiological characteristics, imaging characteristics, surgical treatment and prognosis of Rasmussen encephalitis (RE), so as to deepen the understanding of the disease. MethodsThe clinical data of patients with RE who underwent surgical therapy from October 2014 to October 2019 at Children's Epilepsy Center in Peking University First Hospital were retrospectively reviewed. Demographic characteristics, seizure forms, electroencephalogram (EEG), cranial nuclear magnetic resonance (MRI), operative methods as well as surgical outcomes evaluated by Engel classification during follow-up of the subjects were collected and analyzed. ResultsTotally 21 pediatric patients were enrolled, including 8 males and 13 females. The age at onset was (5.0±2.0) years old, the age at the time of surgery was (6.9±2.7) years old, and the disease duration at the time of surgery was (1.7±1.3) years. Twenty (20/21, 95.2%) patients had focal motor seizures, and 10 (10/21, 47.6%) patients had 2 or 3 forms of focal motor seizures. Fifteen patients (15/21, 71.4%) had epilepsia partialis continua (EPC), which occurred (0.7±0.6) years after the onset. All patients had hemiplegia, which appeared at (0.9±0.6) years after the onset. All patients showed a slow rhythm at their affected hemispheres during the EEG monitoring and 4 of them also showed slow rhythm at the contralateral hemispheres as the disease progressed. All patients had epileptiform discharges at the involved hemisphere, and 6 patients also had independent epileptiform discharges on the contralateral side. All 21 patients underwent hemispheric disconnection. The duration of follow-up was 2 to 7 years, and all patients achieved Engel class I after the surgery. The neurological dysfunction recovered to varying degrees during the postoperative period. ConclusionRE mostly occurs around the school age. Focal motor seizures are the main manifestations and the most common onset symptoms. With the progress of the disease, the condition of patients worsened gradually. The EEG of patients was mainly characterized by broad slow wave and spike wave in the affected hemisphere. Some patients can also have bilateral involvement, which was obviously asymmetrical. Through surgical treatment, the patients all achieved good results in terms of seizures and development.
Objective To investigate the dietary patterns of rural residents in the high-incidence areas of esophageal cancer (EC), and to explore the clustering and influencing factors of risk factors associated with high-incidence characteristics. Methods A special structured questionnaire was applied to conduct a face-to-face survey on the dietary patterns of rural residents in Yanting county of Sichuan Province from July to August 2021. Univariate and multivariate logistic regression models were used to analyze the influencing factors of risk factor clustering for EC. Results There were 838 valid questionnaires in this study. A total of 90.8% of rural residents used clean water such as tap water. In the past one year, the people who ate fruits and vegetables, soybean products, onions and garlic in high frequency accounted for 69.5%, 32.8% and 74.5%, respectively; the people who ate kimchi, pickled vegetables, sauerkraut, barbecue, hot food and mildew food in low frequency accounted for 59.2%, 79.6%, 68.2%, 90.3%, 80.9% and 90.3%, respectively. The clustering of risk factors for EC was found in 73.3% of residents, and the aggregation of two risk factors was the most common mode (28.2%), among which tumor history and preserved food was the main clustering pattern (4.6%). The logistic regression model revealed that the gender, age, marital status and occupation were independent influencing factors for the risk factors clustering of EC (P<0.05). Conclusion A majority of rural residents in high-incidence areas of EC in Yanting county have good eating habits, but the clustering of some risk factors is still at a high level. Gender, age, marital status, and occupation are influencing factors of the risk factors clustering of EC.