Analysis of clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion / 中华儿科杂志

Objective: To investigate the clinical and genetic characteristics of epilepsy associated with chromosome 16p11.2 microdeletion. Methods: The patients (n=10) with 16p11.2 microdeletion found in children with epilepsy treated in Beijing Children's Hospital Affiliated to Capital Medical University from January 2018 to January 2021 were collected. The clinical manifestations, gene variations and prognosis were analyzed retrospectively. Results: A total of 10 children's data were collected, including 5 male and 5 female. The onset age of epilepsy was 4.5 (4.1,5.0) months. Regarding the seizure types, 7 cases had focal seizures with secondary generalization, 2 cases had generalized seizures, and 1 case had tonic seizures and spasms. Nine cases had cluster seizure attacks and 3 cases had status epilepticus. Seven cases had focal or multifocal epileptiform discharges in interictal electroencephalogram (EEG), 3 cases had borderline or normal EEG. Brain magnetic resonance imaging showed polymicrogyria in 1 case, paraventricular leukomalacia in 1 case, delayed myelination of white matter in 3 cases, and no obvious abnormalities in the other 5 cases. The patients were followed up for 0.5-3.5 years, with 1-3 kinds of antiepileptic drugs taken orally. The case with polymicrogyria still had seizures, however the other 9 cases had seizures controlled. The age of the last seizure attack was 8 (6, 12) months. There were 6 cases with mental and motor developmental delay before epilepsy onset. During the follow-up, 7 cases were retarded to varying degrees, while 3 cases had normal development. Regarding the genetic detection methods, 7 cases underwent whole exome sequencing, 2 cases underwent whole genome copy number variation detection, and 1 case underwent whole genome sequencing. The length of the 16p11.2 deletion in 10 cases ranged from 525 to 951 kb, and all contained the PRRT2 gene intact. Six cases were de novo variants, 1 case was inherited from the mother who had a history of convulsions in early childhood, and the source of variant was not verified in 3 cases, none of whose parents had relevant phenotype. Conclusions: The epilepsy associated with 16p11.2 microdeletion is mainly induced by the heterozygous deletion of PRRT2 gene in this region, however the phenotype is usually severe, and often combined with developmental and epileptic encephalopathy. Detection of copy number variation should be emphasized in children whose etiology is considered genetic but second-generation sequencing result is negative.

Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children / 中华儿科杂志

Objective: To analyse the clinical and gene characteristics of GRIN2B gene related neurological developmental disorders in children. Methods: The data of 11 children with GRIN2B gene related neurological developmental disorders from November 2016 to February 2021 were collected from Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health and analyzed retrospectively. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results: Among 11 children 6 were boys and 5 were girls. Two of them were diagnosed with developmental and epileptic encephalopathy. The ages of seizures onset were 3 months and 9 months, respectively. Seizure types included epileptic spasm, tonic seizures, tonic spasm and focal seizures, and 1 patient also had startle attacks. EEG showed interictal multifocal epileptiform discharges. Both of them were added with more than 2 anti-seizure drugs, which were partially effective but could not control. They had moderate to severe mental and motor retardation. The phenotype of 9 cases was developmental delay or intellectual disability without epilepsy, age of visit 1 year to 6 year and 4 months of whom 5 cases had severe developmental delay, 2 cases had moderate and 2 cases had mild delay. Multi-focal epileptiform discharges were observed in 3 cases, no abnormality was found in 3 cases, and the remaining 3 cases did not undergo EEG examination. Ten cases underwent brain magnetic resonance imaging (MRI), 6 cases had nonspecific abnormalities and 4 cases were normal. Nine GRIN2B gene heterozygous variants were detected by next-generation sequencing in these 11 patients, 8 cases had missense variants and 1 case had nonsense variant, all of which were de novo and 3 of which were novel. Missense variants were found in 10 patients, among them 6 cases had severe developmental delay, 3 cases had moderate and 1 case had mild developmental delay, but the patient with nonsense variant showed mild developmental delay without epilepsy. Conclusions: The phenotypes of GRIN2B gene related neurological developmental disorders in children are diverse, ranging from mild intellectual impairment without epilepsy to severe epileptic encephalopathy. Patients with epileptic phenotype usually have an onset age of infancy, and spasm and focal seizures are the most common seizure types. And the epiletice episodes are refractory. Most of the patients with missense variants had severe developmental delay.

Research progress on action mechanism and clinical application of hyaluronic acid / 药学实践杂志

Hyaluronic acid is widely present in the human body. It is an important component of extracellular matrix. It has unique hydrodynamic properties, good viscoelasticity and strain properties. At present, hyaluronic acid has been widely used in biomaterials, targeted-drug preparations, cosmetics and prevention of adhesion after abdominal surgery. With the expansion of the application scope of hyaluronic acid and the continuous emergence of new medical materials, the research on hyaluronic acid has been increasing in recent years. This paper reviews the clinical application of hyaluronic acid and its mechanism, in order to provide reference for the further development and safe application of hyaluronic acid products.

Correlation between eating behaviors with body composition among medical students / 中国学校卫生

Objective@#To investigate the correlation between body composition and eating habits among medical students, and to provide evidence for health promotion.@*Methods@#In December 2021, stratified cluster random sampling method was used to conduct a questionnaire survey and body composition assessment among 445 students in grade one to grade four in Jining Medical University.@*Results@#There were 152 girls (53.3%) and 45 boys (28.1%) with low skeletal muscle mass. Totally 167 students ( 37.5% ) had lower muscle mass, including 115 females (40.4%) and 49 males (30.6%). High body fat percentage was found in 259 (58.2%) students, including 179 females (62.8%) and 80 males (50.0%). There were 192 students (43.1%) with abnormal waist to hip ratio, with 139 females (48.8%) and 53 males (33.1%). In addition, emotional eating score of female students was significantly higher than that of male students(6.85±2.24, 6.11±2.69, t =2.96, P <0.05). Cognitive restricted eating was positively correlated with skeletal muscle mass and musde mass( r=0.13, 0.13, P <0.05). Emotional eating was positively correlated with body fat percentage, body fat and waist hip ratio( r =0.20, 0.20, 0.16, P <0.05). Unrestricted eating was positively correlated with body fat percentage, body fat and waist hip ratio( r =0.15, 0.18, 0.15, P <0.05). Multiple linear regression analysis showed that gender, family residence, physical activity and cognitive eating were associated with skeletal muscle mass and muscle mass of medical students( P <0.05).@*Conclusion@#With low skeletal muscle mass, low muscle mass, body fat percentage and waist and hip high ratio, reasonable eating habits combined with resistance exercise should be adopted to improve their physical health.

Analysis of the clinical features of 400 suspected cases of pediatric pertussis / 中华实用儿科临床杂志

Objective:To summarize the suspected cases of pertussis, to explore the pathogen, and to analyze the clinical features of pertussis.Methods:A retrospective study was conducted to analyze the clinical data of suspected pertussis cases who visited the Department of Infectious Diseases in the Children′s Hospital Affiliated to Capital Institute of Pediatrics from June 2015 to May 2019.Results:(1) The PCR test for respiratory secretions of Bacillus pertussis was completed in 400 cases, with 198 cases positive (49.5%). (2) Among the 198 cases, 158 cases with pertussis were less than 1 year old (79.8%), 113 cases had a clear history of close contact with cough patients (57.1%), and 162 cases were not vaccinated or did not complete full diphtheria and tetanus toxoids and pertussis(DTP) vaccination (81.8%). The incidence of spasmodic cough was 73.7%(146/198 cases); the duration from onset to diagnosis was (17.2±12.3) d; the incidence of cyanosis after cough was 31.3%(62/198 cases), cough with vomiting 17.7% (35/198 cases), inspiratory croup 12.1%(24/198 cases); other concomitant symptoms included wheezing, runny nose, fever, diarrhea, etc.(3) All the patients were divided into the pertussis group (198 cases), other pathogen group (104 cases), and unknown pathogen group (98 cases). Comparison of the clinical symptoms of the three groups showed the highest incidence of cyanosis after cough in pertussis group ( χ2=15.334, P<0.001), and the highest incidence of wheezing, dyspnea, fever, pulmonary rales and stridor in other pathogen group ( χ2=79.208, 38.214, 16.709, 44.794, 42.480, all P<0.001). The percentages of white blood cells, lymphocytes and platelets in the pertussis group were higher than those in the other two groups ( F=15.812, 18.198, 10.819, all P<0.001). Conclusions:Suspected cases of pertussis are infected with various pathogens.Improving the pertussis nucleic acid detection and respiratory virus detection can help to make a clear diagnosis.Pertussis is more common in infants under 1 year of age and in those who have not completed vaccination.The most prominent clinical symptom is spasmodic cough, and the incidence of cyanosis after cough is higher than that of patients infected with other pathogens.

Research and Thinking of International Coordination Documents for Medical Device Labeling / 中国医疗器械杂志

OBJECTIVE@#To further improve the regulation of medical device Introduction for Use (IFU) and improve the quality of medical device Introduction for Use (IFU).@*METHODS@#Summarize domestic regulatory experience and deficiencies through literature research, and introduce the international experience gathered from the IMDRF coordination document Principles of Labelling for Medical Devices and IVD Medical Devices.@*RESULTS@#The IMDRF international coordination document categorizes ten chapters to define and summarize the basic principles that medical device instructions and labels should contain.@*CONCLUSIONS@#According to the current status of medical device specification supervision and drawing on international supervision experience, improvement suggestions are proposed in terms of refining the IFU requires to improve the quality of the instructions, e.g. dynamic adjustment of IFU management requirements, strengthen the management of IFU for home used medical devices, and improving the standardization and rationality of medical device IFU content. We should continue to maintain effective management of medical device IFU.

Concordant systemic and local eosinophilia relates to poorer disease control in patients with nasal polyps / 中华耳鼻咽喉头颈外科杂志

Objective: To explore whether blood and polyp tissue eosinophil numbers are independent risk factors for poor disease control in patients with nasal polyp. Methods: By using the electronic medical records database and manual evaluation, 183 nasal polyp patients who had undergone endoscopic sinus surgery at least one year prior to the study with complete data of tissue specimens, baseline blood routine test, nasal endoscopy and sinus computed tomography, were identified and recruited to assess disease control based on the criteria of a European Position Paper on Rhinosinusitis and Nasal Polyps 2012 (EPOS 2012). Multiple logistic regression model was used to determine the association between blood and tissue eosinophil numbers and risk of poor disease control by adjusting for demographics and comorbidities. Results: We broke down the cohort into 4 groups according to blood (0.3×109/L) and tissue (10%) eosinophils. The patients without eosinophilic inflammation represented the largest group (41.5%). The group with concordant blood and tissue eosinophilia represented the second largest (31.2%), and the patients with isolated tissue (15.3%) or blood (12.0%) eosinophilia were relatively rare. Multiple logistic regression models found blood eosinophil count and tissue eosinophil percentage were independently associated with increased risk for poor disease control after adjustments for covariates related to poor treatment outcome. Furthermore, subjects with concordant blood and tissue eosinophilia had a higher risk for poor disease control than those with isolated blood or tissue eosinophilia. Conclusion: Concordant blood and tissue eosinophilia relates to a higher likelihood of poor disease control than isolated blood or tissue eosinophilia after adjustment of potential confounders in nasal polyp patients.

Efficacy of drug coated balloon versus conventional balloon in the treatment of coronary de novo bifurcation lesions: a meta-analysis / 中华心血管病杂志

Objective: To systematically evaluate the efficacy of drug coated balloon (DCB) versus conventional balloon in the treatment of coronary de novo bifurcation lesions. Methods: The databases of PubMed, Embase, Cochrane Library, Web of science, CNKI (China National Knowledge Infrastructure), Wanfang database, VIP, China Biology Medicine disc, Chinese clinical trial registry, American clinical trial registry and cardiovascular related websites until September 2020 were retrieved for collecting the randomized controlled trials (RCT) comparing DCB versus conventional balloon in the treatment of coronary de novo bifurcation lesions. The risk of bias of included studies was assessed using the Cochrane risk assessment tool. The meta-analysis was performed by using Revman 5.3 and Stata 14.0 software. Results: Seven RCTs with a total of 613 patients were included in this meta-analysis. Among the included studies, 4 articles reached the low risk of bias, and the other 3 articles reached the medium risk of bias. The results of meta-analysis showed that there was no significant difference in the major adverse cardiac events (RR=0.65, 95%CI 0.39-1.08, P=0.10), myocardial infarction (RR=0.68, 95%CI 0.25-1.80, P=0.43), target lesion revascularization (RR=0.94, 95%CI 0.53-1.67, P=0.83) between DCB group and conventional balloon group. Late lumen loss of side branch was less in the DCB group than that in the conventional balloon group (WMD=-0.25, 95%CI -0.41--0.09, P<0.01) and the risk of side branch restenosis was also lower in the DCB group than that in the conventional balloon group (RR=0.47, 95%CI 0.22-0.98, P<0.05). However, subgroup analysis showed that the conclusions of domestic studies and foreign studies on late lumen loss and side branch restenosis were inconsistent. The meta-analysis based on domestic literature showed that the risk of side branch restenosis after DCB treatment was lower compared with conventional balloon group (RR=0.29, 95%CI 0.15-0.57, P<0.05), while this parameter derived from foreign literatures remained unchanged between two groups (P=0.53). The meta-analysis results of domestic literature showed that late lumen loss in DCB group was less than that in conventional balloon group (WMD=-0.32, 95%CI -0.51--0.13, P<0.05), but this phenomenon was not observed in foreign literatures (P=0.30). Conclusions: The use of DCB in the treatment of coronary de novo bifurcation lesions has the potential to reduce the rate of restenosis and late lumen loss of side branch compared with conventional balloon group. However, due to the limitation on quantity, quality and results of published studies, more high-quality and large scale RCTs are still needed to confirm these findings.

Clinical features and laboratory characteristics of eight patients with subacute sclerosing panencephalitis / 中华神经科杂志

Objective:To investigate the clinical and laboratory characteristics of subacute sclerosing panencephalitis (SSPE).Methods:The clinical, laboratory and electroencephalogram (EEG) data of eight patients with SSPE who admitted to the Department of Neurology, Beijing Children's Hospital, Capital Medical University, from May 2014 to February 2019 were retrospectively analyzed and followed up.Results:Four of the patients were male and four were female, who aged from two years and seven months to 13 years and five months with a median onset age of five years and six months. All of the eight cases had disease onset with progressive mental and physical regression, then developed periodic myoclonic seizures at the course of 11 days to 11 months. Video EEG examinations showed persistent generalized periodic complex waves with long interval (3-20 s). The IgG titers of measles virus in blood and cerebrospinal fluid of all cases were significantly increased. There was no significant abnormality in blood/urine metabolism screening nor head magnetic resonance imaging for the first time. Five cases performed head magnetic resonance imaging again, in which two cases with deepening hemispheric sulcus, two cases with cerebral white matter signal abnormalities. Antiepileptic drugs, gamma globulin, adrenocortical hormone and antiviral drugs were used after diagnosis though all were ineffective. All patients presented progressive deterioration. During the follow-up period of three months to two years and seven months, four patients died, of which three patients died at the time of five months, one year and two months, two years and six months after onset respectively, and the other one was unknown.Conclusions:The diagnostic clues of SSPE are progressive mental and physical regression, recurrent myoclonic seizures during period Ⅱ, as well as the extensive periodic complex waves of EEG. It is necessary to detect measles virus IgG antibody in blood and cerebrospinal fluid to make a definite diagnosis. There is no specific treatment for SSPE and its prognosis is very poor.

Resveratrol prevents brain injury and neurogranin expression in rats exposed to gaseous formaldehyde / 中华行为医学与脑科学杂志

Objective:To explore the effects of gaseous formaldehyde exposure on male Sprague-Dawley rat brain function and synaptic protein expression, as well as the neuroprotective effects of resveratrol.Methods:Eighty-four male Sprague-Dawley rats were randomly divided into seven group with 12 in each group: control group (N), gaseous formaldehyde accumulation low concentration group (FL group), gaseous formaldehyde accumulation medium concentration group (FM group), gaseous formaldehyde accumulation high concentration group (FH group), gaseous formaldehyde accumulation low concentration + resveratrol group (FLR group), gaseous formaldehyde accumulation concentration + resveratrol group (FMR group) and gaseous formaldehyde accumulation high concentration + resveratrol group (FHR group). The animal model of gaseous formaldehyde accumulation was established by gas formaldehyde exposure method.Learning and memory function was tested by Morris water maze. Cortical and hippocampal neurogranin (Ng) protein expression in brain cortex and hippocampus was measured by Western blot.Results:(1) Compared with the escape latency and original platform retention time of rats in group N ((19.75±4.08) s, (43.47±2.43) s), the escape latency of rats in FM and FH groups was prolonged ((25.52±2.98) s, (27.45±2.39) s, t=-4.97, -5.82; both P<0.01), the retention time of the original platform was shortened ((30.99±4.21) s, (18.70±2.58) s, t=10.24, 25.71; both P<0.01). Compared with the corresponding formaldehyde accumulation groups such as the FM and FH groups, the escape latency of the rats in the FMR and FHR groups was significantly longer ((21.37±3.80) s, (24.26±3.56) s, t=1.86, 3.93; both P<0.05), the retention time of the original platform was significantly prolonged ((40.33±3.63)s, (23.46±4.73)s, t=-7.50, -3.95; both P<0.01). (2) Compared with the expression of Ng in cortex and hippocampus of rats in group N ((0.99±0.03), (1.07±0.03)), the expression of Ng protein in cortex and hippocampus of rats in FM and FH groups was significantly reduced((0.62±0.06), (0.39±0.03), (0.77±0.09), (0.46±0.10), t=11.55, 14.08, 11.51, 13.17; all P<0.01). Compared with the corresponding formaldehyde accumulation groups such as the FM and FH groups, the expressions of Ng in the cortex and hippocampus of the rats in the FMR and FHR groups were significantly increased ((0.94±0.11), (0.48±0.04), (0.95±0.05), (0.60±0.09), t=-5.26, -2.09, -5.32, -2.21; all P<0.05). Conclusion:Resveratrol can improve the learning and memory function of rats caused by the accumulation of gaseous formaldehyde.The mechanism may be related with the upregulation of Ng.

The effect of laparoscopic transabdominal preperitoneal and mesh plug repair on the sexual function of patients with indirect inguinal hernia / 中国医师进修杂志

Objective:To study the effect of laparoscopic transabdominal preperitoneal (TAPP) and mesh plug repair on the sexual function of patients with indirect inguinal hernia.Methods:One hundred and four patients with indirect inguinal hernia who were treated in the No.922 Hospital of PLA Joint Logistics Support Force from January 2018 to October 2019 were selected and divided into two groups according to the method of random number table: routine group and TAPP group, with 52 cases in each group. The routine group was treated with mesh plug repair, and the TAPP group was treated with TAPP. The international erectile function index-5 (IIEF-5) was used to evaluate the sexual function of the patients after operation for 6 months, the visual analog pain scale (VAS) was used to evaluate the pain after operation for 1 month, and the relevant indexes of the operation and the incidence of complications were compared.Results:The IIEF-5 scores at 6 months after operation in two groups was higher than that before operation, the testicular volume and the maximum blood flow velocity of testicular artery in two groups were lower than those before operation, and the differences were statistically significant ( P<0.05); the IIEF-5 scores at 6 months after operation in the TAPP group was higher than that in the routine group [(23.86 ± 1.5) scores vs. (21.45 ± 3.85) scores], and the testicular volume and the maximum blood flow velocity of testicular artery were higher than those in the routine group [(9.65 ± 0.08) cm 3 vs. (9.39 ± 0.09) cm 3, (3.83 ± 1.05) cm/s vs. (2.88 ± 0.36) cm/s], and the differences were statistically significant ( P<0.05). One month after operation, the pain scores of two group were lower than that before operation, and the pain scores of TAPP group was lower than that of routine group [(1.65 ± 0.35) scores vs. (2.78 ± 0.39) scores], and the differences were statistically significant ( P<0.05). The operation time of TAPP group was higher than that of routine group [(44.35 ± 6.26) min vs. (41.80 ± 5.95) min], the bleeding volume, the time of getting out of bed, the time of hospitalization of TAPP group were lower than those of routine group [(54.66 ± 8.98) ml vs. (73.25 ± 15.25) ml, [(12.75 ± 2.42) h vs. (23.55 ± 3.66) h], (3.25 ± 1.01) d vs. (7.85 ± 1.44) d], and the differences were statistically significant ( P<0.05). The incidence of operation complications of TAPP group was lower than that of routine group [3.85%(2/52) vs. 21.15%(11/52)], and the difference was statistically significant ( χ2=7.121, P<0.05). Conclusions:Compared with conventional hernia repair, laparoscopic hernia repair can improve the sexual function, relieve the pain, improve the therapeutic effect and reduce the complications.

Research Method for Numerical Simulation on Upper Respiratory Tract Airway State Based on 3D Printing and CT Reconstruction / 医用生物力学

Objective To establish a comprehensive method combining physical model experiment and numerical simulation for studying airflow state of upper respiratory tract. Methods Based on CT medical images published online, a three-dimensional (3D) model of human upper respiratory tract was reconstructed. Based on 3D printing technology, an experimental model of the upper respiratory tract was established and the flow process of respiration was measured. A numerical simulation model was created based on the meshing of upper respiratory tract model and the turbulent Realizable k-ε model. Results Firstly, the result of numerical simulation was compared with the experimental conditions, and good agreement was achieved. The numerical simulation results showed that the airflow in respiratory process was in a parabolic shape; the distribution of flow field, pressure on wall and vortex structure were different between inspiratory and expiratory phases; there were air residues in the upper and lower nasal passages during the respiratory exchange process. In addition, the effects of airflow on physiological environment of the upper respiratory tract were preliminarily analyzed through the steak line, pressure field and vortex structure distribution. Conclusions The method proposed in this paper has the characteristics of pertinence, rapidity and accuracy, which gives full play to the advantages of reliable physical experiments and fine numerical simulation, and is applicable for studying different problems of the upper respiratory tract in different cases, with a high value for personalized diagnosis and treatment in clinic.

Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants / 中华儿科杂志

Objective@#To explore the clinical characteristics and genotyping results of childhood-onset myoclonus dystonia syndrome caused by SGCE variants.@*Methods@#The clinical data of 9 children with SGCE-related myoclonus dystonia syndrome admitted at either the Department of Neurology, Beijing Children′s Hospital, Capital Medical University or the Department of Pediatrics, Peking University First Hospital from May 2018 to October 2019 were collected and the patients were followed up. The definite diagnosis was made on the basis of whole exome sequencing and multiple ligation-dependent probe amplification. The clinical features and gene test results were analyzed retrospectively.@*Results@#Data of 9 patients (4 boys and 5 girls) diagnosed as myoclonus dystonia syndrome caused by SGCE variants were collected. The onset age ranged from 1 year to 3 years and 2 months. The first symptom was myoclonus in 4 cases, while dystonia in the remaining 5 cases. In the course of the disease, 9 cases had myoclonus and 8 had dystonia. Myoclonic jerks were characterized by involuntary jerks in both upper limbs in 8 patients. Six patients had involuntary jerks of lower limbs, resulting in gait instability or even falling. The myoclonus was exacerbated during the fine motor activities, emotional stress or fatigue. Dystonia was characterized by abnormal gait, including 5 cases with right leg dystonia, and 3 cases with the left leg dystonia. Three probands had a positive family history. Intellectual development was normal in all cases. There was no obvious abnormality in video-electroencephalogram (EEG) during both ictal and interictal periods. Electromyography (EMG) and brain magnetic resonance imaging (MRI) of 9 patients were normal. Nine patients carried SGCE gene variants, including 3 frame shift variants, 2 nonsense variants, 2 missense variants, 1 fragment deletion variant and 1 splice site variant. Seven variants were inherited paternally, and 2 variants were de novo. Madopar was used in 8 patients, and nitrazepam in 4 patients, leading to the decrease in the myoclonus jerks and improvement of gait in 6 and 2 patients, respectively.@*Conclusions@#SGCE gene variants can cause myoclonus dystonia syndrome. The onset of the disease may occur at infancy or preschool age, with either myoclonic jerks or dystonia as the initial symptom. Non-epileptic myoclonus is the prominent symptom, with upper limb mainly involved. Most of the patients have the accompanying symptoms of dystonia, and some of them may have spontaneous symptom relief. SGCE gene is imprinted maternally, and the inherited variants of SGCE are paternal in origin.

Protective Effect of Procyanidin B2 on Acute Liver Injury Induced by Aflatoxin B in Rats / 生物医学与环境科学（英文）

Objective@#This study aimed to explore the protective effect of procyanidin B2 (PCB2) on acute liver injury induced by aflatoxin B (AFB ) in rats.@*Methods@#Forty Sprague Dawley rats were randomly divided into control, AFB , AFB + PCB2, and PCB2 groups. The latter two groups were administrated PCB2 intragastrically (30 mg/kg body weight) for 7 d, whereas the control and AFB groups were given the same dose of double distilled water intragastrically. On the sixth day of treatment, the AFB and AFB + PCB2 groups were intraperitoneally injected with AFB (2 mg/kg). The control and PCB2 groups were intraperitoneally administered the same dose of dimethyl sulfoxide (DMSO). On the eighth day, all rats were euthanized: serum and liver tissue were isolated for further examination. Hepatic histological features were assessed by hematoxylin and eosin-stained sections. Weight, organ coefficient (liver, spleen, and kidney), liver function (serum alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, total bilirubin, and direct bilirubin), oxidative index (catalase, glutathione, superoxide dismutase, malondialdehyde, and 8-hydroxy-2'-deoxyguanosine), inflammation factor [hepatic interleukin-6 (IL-6) mRNA expression and serum IL-6], and bcl-2/bax ratio were measured.@*Results@#AFB significantly caused hepatic histopathological damage, abnormal liver function, oxidative stress, inflammation, and bcl-2/bax ratio reduction compared with DMSO-treated controls. Our results indicate that PCB2 treatment can partially reverse the adverse liver conditions induced by AFB .@*Conclusion@#Our findings indicate that PCB2 exhibits a protective effect on acute liver injury induced by AFB .

Principles of magnetic resonance imaging and its value in diagnosis of sinonasal disease / 中华耳鼻咽喉头颈外科杂志

Magnetic resonance imaging is commonly used in clinical work for its high resolution for soft tissue, and without radiation or interaction of bone interference. For ENT physicians, to read MRI accurately and retrieve more information from it would help the clinical work a lot. This review introduces the principles of MRI, the anatomy, the inflammatory disease, benign tumors and malignancies of the nasonasal tract.

Clinical and genetic characteristics of 62 children with mitochondrial epilepsy / 中华儿科杂志

Objective@#To summarize the clinical and genetic characteristics of children with mitochondrial epilepsy.@*Methods@#Clinical data of 62 children who were clinically and genetically diagnosed with mitochondrial epilepsy by the Department of Neurology, Beijing Children′s Hospital from October 2011 to December 2018 were analyzed retrospectively, and the control of epilepsy was followed up. T test or χ2 test were used to analyze the related factors affecting the prognosis of epilepsy between the effective group and the ineffective group.@*Results@#Of the 62 patients, 33 were male and 29 were female. The age of onset was 3.38 (0-12.00) years; for the type of seizures, 68% (42/62) of the patients had focal seizures, generalized or secondary generalized tonic-clonic seizures were seen in 32% (20/62), myoclonic seizures in 23% (14/62), spastic seizures in 7 cases, tonic seizures in 4 cases, absence seizure, atonic seizure and clonic seizure in 1 case each; 16 cases (26%) had status epilepticus, of whom 6 cases had epilepsia partialis continua; 52% (32/62) had 2 or more types of seizures. The clinical phenotypes were mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) in 29 cases, Leigh syndrome (LS) in 11 cases, combined oxidative phosphorylation deficiency in 6 cases, myoclonus epilepsy with ragged-red fibers in 5 cases, Alpers syndrome in 4 cases, pontocerebellar hypoplasia type 6 and mitochondrial DNA depletion syndrome 9 in 2 cases each, mitochondrial complex Ⅰ deficiency nuclear type 20, progressive cavitating leukoencephalopathy, and biotinidase deficiency in 1 case each. Of the 62 cases, 40 cases (65%) had mitochondrial DNA (mtDNA) variations, of which 26 cases had m.3243A>G variants, 6 cases had m.8344A>G variants, and 3 cases had m.8993T>G/C variants, m.3271T>C, m.3481G>A, m.3946G>A, m.13094T>C, m.14487T>C variant was in 1 case each; nuclear DNA (nDNA) variations were identified in 22 cases (35%), of which 7 cases carrying variations in mitochondrial ammonia acyl tRNA synthetase coding gene, mutations in POLG and the gene encoding complex Ⅰ were in 4 cases each, variations in SUCLG1 and SDHA genes were in 2 cases each, and variations in PDHA1, BTD and TRIT1 genes were in 1 case each. Forty-three patients were followed up, and the follow-up time was 20 (3-84) months. According to the follow-up results, the anti-epilepsy treatment was effective in 19 cases (44%) and ineffective in other 24 cases (56%). The onset age of the effective group was 3.42 (0-11.50) years and that of the ineffective group was 0.92 (0-9.50) years. The onset duration of the effective group was 0 (0-7.00) years and that of the ineffective group was 0 (0-4.83) years. There was no significant difference between the effective group and the ineffective group (t=1.662, 0.860; P=0.104, 0.395). In the effective group and the ineffective group, 12 cases and 9 cases used less than 2 kinds of antiepileptic drugs, 7 cases and 15 cases used more than or equal to 2 kinds of antiepileptic drugs, 13 and 15 cases had first epilepsy, 6 and 9 cases had non-first epilepsy, 14 and 11 cases had mtDNA variation, 5 and 13 cases had nDNA variation, respectively. There was no significant difference between the two groups (χ2=2.794, 0.164, 3.380; P=0.095, 0.686, 0.066).@*Conclusions@#The types of seizures with mitochondrial epilepsy in children varied, with focal motor seizures being the most common, followed by generalized or secondary generalized tonic-clonic seizures. Most children have more than two types of seizures. MELAS is the most common clinical phenotype, followed by LS; mtDNA variation is the dominant gene variation, of which m.3243A>G variation is the most common hotspot variation, followed by gene variation encoding mitochondrial aminoacyl tRNA synthase.

Clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation / 中华儿科杂志

Objective@#To summarize the clinical and genetic characteristics of focal epilepsy in children caused by GATOR1 complex gene variation.@*Methods@#The clinical data, gene variation and treatment outcome of 12 children with focal epilepsy caused by GATOR1 complex gene variation admitted to Beijing Children′s Hospital Affiliated to Capital Medical University from June 2016 to October 2018 were retrospectively analyzed.@*Results@#There were 7 males and 5 females in 12 cases. The epilepsy onset age was 5.5 (3.0, 12.0) months, and from 11 days to 16 months of age. The epileptic seizure types were all focal motor seizures, and one case combined with epileptic spasms. The frequency of seizures in all patients was more than one time per day. Seven cases had frontal lobe epilepsy and two cases had lateral temporal lobe epilepsy. One case had a family history of febrile seizures and two had a family history of suspicious epilepsy. Epileptic form discharges were observed in 9 patients during the interictal phase by electroencephalograms (EEG), and all of them were focal discharges. Eight cases had clinical seizures detected by EEG, in 4 of whom the seizures were originated in frontal region. There were no abnormalities in brain magnetic resonance imaging in 11 cases whereas 1 case had malformation of cortical development of left frontal lobe. Eight patients had DEPDC5 gene variation, one had NPRL2 gene variation, three had NPRL3 gene variation. One case had de novo variation and the other 11 had hereditary variation. There were 11 types of gene variation, including 5 nonsense variations, 3 missense variations, 2 frame shift variations and 1 in frame deletion variation. There was no clear relationship between the clinical phenotype and the genotype. During the follow-up period from 6 months to 2 years and 6 months, 6 cases had seizure control, 3 of them were controlled by oxcarbazepine. The other 6 cases had drug-refractory epilepsy, 2 of them failed with vagus nerve stimulation and ketogenic dietary therapy as well, meanwhile combined with mental retardation.@*Conclusions@#GATOR1 complex gene variation can lead to genetic focal epilepsy, which usually has early onset with frequent seizures. Most of the patients have focal epileptic form discharges on EEG, and there is usually no structural lesion in brain imaging. Most of the patients have hereditary loss-of-function variations. Approximately half of cases are drug-resistant epilepsy.

Clinical features of 19 children with Bickerstaff brainstem encephalitis / 中华儿科杂志

Objective@#To summarize the clinical features of Bickerstaff brainstem encephalitis (BBE) in children.@*Methods@#In this retrospective study, data of 19 patients with BBE (11 males and 8 females) were collected from Department of Neurology, Beijing Children′s Hospital from October 2015 to January 2018. The clinical features, treatment and prognosis were analyzed.@*Results@#The onset age of BBE ranged from 1 year and 8 months to 12 years and 11 months. There were 18 cases with preceding infection. The most common infection was upper respiratory tract infection (9 cases), followed by simple fever (5 cases). The most common initial neurological symptoms were lethargy or disturbance of consciousness (8 cases), followed by limb weakness (5 cases). There were 6 cases of simple BBE and 13 cases of BBE overlapping Guillain-Barré syndrome (GBS). Besides the characteristic triad of altered mental status, ataxia, and ophthalmoplegia, there were other symptoms including convulsion (5 cases), diplopia (3 cases), nystagmus (7 cases), facial muscular weakness (7 cases),bulbar palsy (13 cases) and autonomic nerve symptoms (9 cases). Hypo or areflexia was seen in 16 cases. Positive Babinski′s signs were seen in 8 cases. Hyponatremia was present in 10 cases in whom 4 showed severe hyponatremia. Albumin-cytological dissociation of cerebrospinal fluid was seen in 10 cases. The autoimmune antibodies were examined in all 19 patients. Anti-ganglioside antibodies including anti-GM1 IgG antibody was positive in 2 patients and one of whom was also found with positive anti-GD1b IgG antibody. Anti-GQ1b IgG antibody was present in 2 patients. Electromyography was performed in 14 cases and 8 cases, who were all BBE overlapping GBS, showed neurological damage. A total of 16 cases were monitored by video electroencephalography and 8 cases showed slow waves of background. In addition to, interictal focal discharge was detected in 2 cases. T2 fluid-attenuated inversion recovery (FLAIR) sequence abnormal signals were detected in 3 of 18 cases performed brain magnetic resonance imaging (MRI), and lesions involved with brainstem, basal ganglia, thalamus, cerebellum, corpus callosum and cerebral cortex. Lesions involved cervical and thoracic spinal cord were found in 1 out of 11 cases for whom spinal cord MRI was performed. All of the 4 cases who underwent enhanced MRI of spinal had partial nerve roots enhancement. All of the 19 patients received 1 to 2 courses of intravenous immunoglobulin therapy, and 2 cases also received plasma exchange. Fifteen cases received steroid therapy. The following-up period ranged from 3 months to 2.5 years. Two cases were lost to follow-up. Twelve cases achieved a full recovery within 3 months. Three cases recovered within 6 months. One case still had slight limb weakness and ataxia after 1 year and 8 months of follow-up, and another case had left autonomic nerve symptoms in the follow-up of 2 years and 3 months. Both of them were BBE overlapping GBS.@*Conclusions@#Children′s BBE is similar to that in adults, and is frequently found overlapped with GBS. Furthermore, it is sometimes accompanied by central nervous system demyelination disease. The antiganglioside antibodies are not often detectable. Immunoglobulin therapy could usually achieve good response. The prognosis of simple BBE is good in most situations. For BBE overlapping GBS, the more severe the limb weakness during the peak of disease is, the slower the recovery would be.

Study on the relationship between 11β-hydroxysteroid dehydrogenase and glucocorticoid response in nasal polyps / 中华耳鼻咽喉头颈外科杂志

Objective@#To investigate the expression of 11β-hydroxysteroid dehydrogenase (11β-HSD) in polyps of patients with chronic rhinosinusitis with nasal polyps (CRSwNP) and its correlation with glucocorticoid sensitivity.@*Methods@#The prospective study method was applied. Forty-three adult CRSwNP patients from Otorhinolaryngology Hospital, First Affiliated Hospital of Sun Yat-sen University between April 2016 and June 2017 were enrolled in this study. There were 19 males and 24 females with the age of (37.44±7.42) years old. The endoscopic scores by nasal Polyps Grading System before and after one-week prednisone treatment (0.5 mg/(kg·d)) were evaluated. The response of glucocorticoid by the total endoscopic scores was estimated. According to the patient′s reduced nasal polyp endoscopic score, patients were devided into nasal polyps insensitive to glucocorticoids treatment group (insensitive group) and nasal polyp sensitive to glucocorticoids treatment group (sensitive group). The expression of 11β-HSD1, 11β-HSD2 in nasal polyps were measured by Real-time PCR (RT-PCR), Western Blot and immunohistochemisty. According to the clinical data, the Logistic regression models and receiver operation characteristics (ROC) curves were used to explore the predictor for glucocorticoid response in CRSwNP.@*Results@#The expression of 11β-HSD1 and 11β-HSD1/11β-HSD2 was higher in sensitive group than that of insensitive group, while the expression of 11β-HSD2 was lower (rank average was 26.08 vs 16.33, 27.24 vs 14.72, 18.66 vs 26.64, Z value was -2.511, 0.323, -2.059, respectively, all P<0.05). The endoscopic scores in CRSwNP group declined whereas the expression of 11β-HSD1/11β-HSD2 increased (r=0.528, P=0.001), while the cutoff value of the ratio of 11β-HSD1/11β-HSD2 was 2.290 (sensitivity was 79.17%, specificity was 88.89%).@*Conclusions@#There is a positive correlation between the response of glucocorticoid and the ratio of 11β-HSD1/11β-HSD2, which could be used as a marker in predicting the level of tissue response to glucocorticoid therapy in CRSwNP.

Investigation of hearing loss and speech recognition ability of the elderly and analysis of its high risk factors / 中华耳鼻咽喉头颈外科杂志

Objective@#To investigate the hearing loss and speech disorders in the elderly, to analyze the risk factors of the elderly deafness, as well as to provide reference for the clinical research of the elderly deafness.@*Methods@#From March 2016 to March 2018, 913 elderly people, who were tested for hearing and speech disorders, were examined by a unified questionnaire to investigate the demographic data of the subjects and the related factors of deafness, and the hearing and speech recognition tests were carried out. According to the hearing loss, the hearing impaired group was divided into the hearing impaired group (500, 1 000, 2 000 and 4 000 Hz, the average hearing threshold>25 dBHL) and the non hearing impaired group (the average hearing threshold of the four frequencies ≤25 dBHL), and then the single factor analysis and the unconditional Logistic regression analysis were used. Finally, the risk factors of senile deafness were analyzed.@*Results@#Of the 913 elderly subjects in the survey, 389 (42.61%, 389/913) had no hearing impaired, 345 (37.79%, 345/913) were mild hearing impaired, and 149 (16.32%, 149/913) had moderate hearing loss. Twenty-six patients were severe hearing loss (2.85%, 26/913); 4 patients had severe hearing loss (0.44%, 4/913). Among the 524 hearing-impaired elderly, there were 244 speech-recognition disorders (46.56%, 244/524), of whom 106 were mild hearing-impaired, accounting for 30.72% (106/345), 108 were moderate hearing loss, accounting for 72.48% (108/149), 26 were severe hearing loss, accounting for 100% (26/26), and 4 were the profound hearing loss, accounting for 100% (4/4). Statistical analysis showed that the age, job status, history of hypertension, history of hyperglycemia, and smoking history were independent risk factors for senile hearing loss (P<0.05).@*Conclusions@#High incidences of hearing and speech recognition obstacle are found in health examination for the elderly patients. Noise exposure, age, history of hypertension, high blood sugar, and smoking history are high-risk factors for senile deafness, therefore, prevention and rehabilitation programs are urgent to be developed.