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1.
Article in Chinese | WPRIM | ID: wpr-923020

ABSTRACT

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.

2.
Article in Chinese | WPRIM | ID: wpr-907943

ABSTRACT

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.

3.
Article in Chinese | WPRIM | ID: wpr-880428

ABSTRACT

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.


Subject(s)
Product Labeling
4.
Chinese Journal of Pediatrics ; (12): 123-128, 2020.
Article in Chinese | WPRIM | ID: wpr-799312

ABSTRACT

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.

5.
Article in Chinese | WPRIM | ID: wpr-867028

ABSTRACT

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.

6.
Article in Chinese | WPRIM | ID: wpr-865600

ABSTRACT

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.

7.
Journal of Medical Biomechanics ; (6): E289-E295, 2020.
Article in Chinese | WPRIM | ID: wpr-862383

ABSTRACT

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.

8.
Chinese Journal of Neurology ; (12): 798-804, 2020.
Article in Chinese | WPRIM | ID: wpr-870892

ABSTRACT

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.

9.
Article in English | WPRIM | ID: wpr-829020

ABSTRACT

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 .


Subject(s)
Aflatoxin B1 , Toxicity , Animals , Biflavonoids , Pharmacology , Catechin , Pharmacology , Chemical and Drug Induced Liver Injury , Drug Therapy , Male , Poisons , Toxicity , Proanthocyanidins , Pharmacology , Protective Agents , Pharmacology , Random Allocation , Rats , Rats, Sprague-Dawley
10.
Chinese Journal of Pediatrics ; (12): 363-367, 2019.
Article in Chinese | WPRIM | ID: wpr-810591

ABSTRACT

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.

11.
Article in Chinese | WPRIM | ID: wpr-810520

ABSTRACT

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.

12.
Article in Chinese | WPRIM | ID: wpr-810455

ABSTRACT

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.

13.
Article in Chinese | WPRIM | ID: wpr-801281

ABSTRACT

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.

14.
Chinese Journal of Pediatrics ; (12): 844-851, 2019.
Article in Chinese | WPRIM | ID: wpr-800736

ABSTRACT

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.

15.
Article in Chinese | WPRIM | ID: wpr-754423

ABSTRACT

Objective: To analyze the clinical application of the open supraclavicular approach in thyroidectomy. Methods: The clinical practicability of open supraclavicular thyroidectomy was explored by comparing the traditional anterior low arc incision thyroidectomy procedure with open supraclavicular thyroidectomy in terms of patients'aesthetic satisfaction, effectiveness of the operation, operation time, and so on. Result: Twenty-two cases of open supraclavicular thyroidectomy (group B) had better aesthetic satisfaction than 29 cases of traditional incision thyroidectomy (group A)(P<0.05), and had the same operative effect with traditional incision. Open supraclavicular thyroidectomy is associated with good aesthetic satisfaction, and has the same effect as the traditional incision does. Conclusions: Open supraclavicular thyroidectomy has good clinical value for benign thyroid tumors and some malignant tumors that require unilateral lobectomy, and even for tumors larger than the incision diameter. It has good aesthetic value while ensuring the curative effect of surgery.

16.
Chinese Journal of Pediatrics ; (12): 780-785, 2019.
Article in Chinese | WPRIM | ID: wpr-796340

ABSTRACT

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.

17.
Article in Chinese | WPRIM | ID: wpr-278703

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the significance of H3K27me3 and its methyltransferase EZH2 in predicting the short-term and long-term outcome of newly diagnosed patients with diffuse large B-cell lymphoma (DLBCL).</p><p><b>METHODS</b>The paraffin wax speciments of 102 DLBCL patients in Fujian Medical University Cancer Hospital were collected. The expression of H3K27me3, EZH2 and BCL-2 protein were detected using tissue array made by tissue microarray(TMA) technique and immunohistochemistry method. The evaluation data after clinical treatment and follow-up results were collected and combined with expression levels of H3K27me3, EZH2 and BCL-2 detected by tissue array, then on the basis of these data, the survival of patients was analyzed by Kaplan-Meier method, the correlation of EZH2 with H3K27me3 and BCL-2 was analyzed by pearson correlation test, the correlation of above mentioned indicators with different therapeutic efficacy was analyzed by spearman correlation test. The relationship of H3K27me3 and EZH2 expression as well as co-expression of H3K27me3 and EZH2 with the therapeutic efficacy and prognosis of patients were compared.</p><p><b>RESULTS</b>A total of 61.8% patients showed EZH2 high expression which positively correlated with high expression of H3K27me3 and BCL-2. The complete remission (CR) and overall remission (OR) rates in H3K27me3 high expression and co-expression of H3K27me3 EZH2 groups were lower than those in low expression groups (P<0.001), moreover OS and PFS rates also were lower than those in low expression (P<0.001). In the RCHOP subgroup, the patients with EZH2 low expression showed significantly better CR, OR OS and PFS in comparison with those of patients with higher expression (P=0.003,P=0.019).</p><p><b>CONCLUSION</b>Part of DLBCL patients with H3K27me3 high expression or coexpression of both H3K27me3 and EZH2 exhibit a worse prognosis in comparison with those patients with H3K27me3 low expression or without coexpression. The patients with EZH2 low expression usually responde well to RCHOP regimen in the short-term or long-term survival.</p>

18.
Chinese Journal of Pediatrics ; (12): 575-581, 2018.
Article in Chinese | WPRIM | ID: wpr-810081

ABSTRACT

Objective@#To understand the epidemiological and etiological characteristics of enterovirus (EV)-associated diseases among children in Beijing from 2010 to 2016.@*Methods@#This was a repeated cross-sectional study. The throat swabs were collected from children with probable EV-associated diseases at the Children' s Hospital Affiliated to Capital Institute of Pediatrics from 2010 to 2016. The samples were sent for pan-EV, enterovirus 71 (EV-A71) and coxsackievirus A16 (CV-A16) detection by real-time fluorescence reverse transcription polymerase chain reaction (RT-PCR) . The viral types of non-EV-A71 and non-CV-A16 EV-positive samples were identified using modified RT-PCR and sequencing with CV-A6, EV-A/B group and 5 'UTR universal primers. The constituent ratios of the prevalence of different EV types in different age and gender groups were compared.@*Results@#Of the 2 703 throat swabs, 1 992 (73.7%) samples were positive for EV, including EV-A71 (19.1%, 516/2 703), CV-A16 (24.3%, 658/2 703), CV-A6 (22.2%, 600/2 703), CV-A10 (4.5%, 122/2 703) and other types of EV (3.5%, 95/2 703). There was 1 case of EV-A71 and CV-A16 co-infection. The positive detection rate of EV-A group (excluding EV-A71, CV-A16, CV-A6 and CV-A10) increased from 11.3% (7/62) to 95.2% (59/62) after using the modified VP1-specific primers and PCR amplification conditions. During the period between 2010 and 2012, CV-A16 and EV-A71 predominated in EV-positive samples. However, CV-A6 accounted for 60.7% (68/112) in 2013, much higher than CV-A16 (23.2%, 26/112) and EV-A71 (12.5%, 14/112). In 2014, EVs were mainly of CV-A16 and EV-A71, but CV-A6 was the predominant type in 2015 (68.2%, 232/340) and in 2016 (38.6%, 151/391). The epidemic season of EVs was mostly from April to August, but CV-A6 showed a small epidemic peak from October to November. The male-to-female ratio of EV-positive patients was 1.50∶1, and EV-associated diseases mostly occurred in children under 5 years of age. Younger children were more susceptible to CV-A6 than to EV-A71 and CV-A16.@*Conclusions@#From 2010 to 2016, there was a significant change in the spectrum of EVs in children with EV-associated diseases in Beijing. Since 2013, non-EV-A71 and non-CV-A16 increased, and CV-A6 gradually became one of the major pathogens of EV-associated diseases. The modified PCR primers and amplification conditions can effectively improve the reliability of test results.

19.
Chinese Journal of Pediatrics ; (12): 429-434, 2018.
Article in Chinese | WPRIM | ID: wpr-809981

ABSTRACT

Objective@#To analyze and compare the epidemiological features of prevalent influenza A viruses in children in Beijing during 13 consecutive surveillance seasons from 2004 to 2017.@*Methods@#This was a repeated cross section study. Throat swabs were collected weekly from children with influenza-like illnesses (ILI) who presented to the outpatient/emergency department of Children's Hospital, Capital Institute of Pediatrics during the period from September, 2004 to August, 2017. All of the specimens were inoculated into Madin Darby canine kidney (MDCK) cells to isolate influenza viruses followed by identifying different types of influenza viruses with reference antisera by hemagglutination-inhibition assay. Descriptive statistics, t test and chi-square test were used to analyze the characteristics of prevalent influenza and characteristics of children infected with different types of influenza viruses.@*Results@#Out of 10 984 specimens from ILI tested for influenza viruses, 1 052 (9.6%) were positive for influenza A viruses, and the positive rate was higher than that of influenza B viruses (6.7%, 741/10 984). Out of 1 052 cases positive for influenza A viruses, 70 cases of seasonal H1N1, 302 cases of 2 009 pandemic H1N1 and 680 cases of H3N2 were identified. The mean age of children with influenza A was (4.2±2.9) years, in whom 55.5% (584/1 052) were male. The mean age of children infected with seasonal H1N1, 2009 pandemic H1N1 and H3N2 was (4.6±2.1) , (4.3±3.1) and (4.2±2.9) years, respectively. There was no significant difference in the mean age among children infected with different subtypes of influenza A viruses (seasonal H1N1 vs. H3N2: t=1.139, P=0.255; 2009 pandemic H1N1 vs. H3N2: t=0.631, P=0.528; seasonal H1N1 vs. 2009 pandemic H1N1: t=0.720, P=0.472), while the mean age of children with influenza B was higher than that of the patients with influenza A ((5.2±2.7) vs. (4.2±2.9) years, t=7.120, P=0.000). The infection rate of influenza A in children with each age group was significantly different from that of influenza B. The infection rate of 2009 pandemic H1N1 and H3N2 increased with age, except for the patients of 0-6 months. Meanwhile, the infection rate of H3N2 in children aged 6 months to 12 years was higher than that of seasonal H1N1 and 2009 pandemic H1N1 (all P<0.05). The influenza A epidemic peaked earlier than that of influenza B when the positive rate of influenza A was higher than that of influenza B, and vice versa. After 2009, circulating strain was substituted by 2009 pandemic H1N1 virus with higher positive rate, while previous seasonal H1N1 had not been detected. The 2009 pandemic H1N1 circulated at high level in two consecutive seasons, which was followed by low level in next season. H3N2 epidemic peaked mostly in winter and spring each year, however, the epidemic wave of H3N2 with high virulence occurred so early in the summer in the year of 2009 H1N1 pandemic.@*Conclusions@#The characteristics of prevalent influenza A viruses in children were different among 13 surveillance seasons from 2004 to 2017 in Beijing. The 2009 pandemic H1N1 and H3N2 became the predominant strains of influenza A virus.

20.
Chinese Journal of Pediatrics ; (12): 142-147, 2018.
Article in Chinese | WPRIM | ID: wpr-809813

ABSTRACT

Objective@#To summarize the clinical and pathological features of small vessel-childhood primary angiitis of the central nervous system (SV-cPACNS), discuss the immune therapy and increase the attention to brain biopsy in SV-cPACNS.@*Methods@#The clinical data, pathology of brain biopsy, treatment and outcome of an SV-cPACNS patient hospitalized in Beijing Children's Hospital in February 2016 were analyzed retrospectively. The cases reported at Pubmed, CNKI and Wanfang databases from 2007 to 2017 were searched, the clinical and pathological features, immunotherapy and prognosis of the disease were summarized according to the literature review.@*Results@#A 70 months old girl had 6 times relapses during 5 months' disease course. Symptoms included convulsions, limb paralysis, blurred vision and speech difficulty. Multiple cortical lesions were found successively in brain MRI but CT angiography was negative. The pathology of brain biopsy revealed thickening of small vessel walls together with lymphocytic infiltration. After the treatment with rituximab, remission was achieved and remained stable without recurrence in 1 year follow up. A total of 44 pathologically confirmed cases reported in nearly 10 years were retrieved. Male to female ratio was 1∶3.5. The average onset age was 9.8 years. Clinical manifestations included seizures (37/45, 82%), headache (35/45, 78%), cognitive decline (28/45, 62%), speech regression(20/45, 44%), paralysis (15/45, 33%), and so on; 70% (19/27) patients experienced relapses. Erythrocyte sedimentation rate and C-reactive protein slightly elevated, antinuclear antibody and other autoimmune antibodies were mostly negative. Mild lymphocytosis in cerebrospinal fluid was found in 67%(29/43) patients. 53%(23/43) patients had elevated CSF protein level, several had elevated IgG and positive oligoclonal band. Bilateral multifocal lesions were revealed in 80% (36/45) brain MRIs, meanwhile all angiographies were unremarkable. The pathology showed small angiitis and immunohistochemistry positive for CD3 and CD20. Twenty-seven patients had detailed therapeutic information; 25 of them received immunosuppressive agents, including cyclophosphamide, mycophenolate mofetil and rituximab. One patient died, 26 patients achieved remission with 54% (22/44) had neurological sequelae.@*Conclusions@#SV-cPACNS had varied clinical manifestations, there was no specificity in laboratory and imaging examination and angiography was often negative. The definite diagnosis relied on brain biopsy, which showed lymphocytic inflammation of small vessels. SV-cPACNS tended to relapse and induce neurologic deterioration. Treatment required long-term use of steroids and immunosuppressive agents. Rituximab could be an effective agent.

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