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1.
China Pharmacy ; (12): 942-947, 2024.
Article in Chinese | WPRIM | ID: wpr-1016716

ABSTRACT

OBJECTIVE To study the ameliorative effect and potential mechanism of curcumin on diabetes model rats with depression based on cAMP response element binding protein (CREB)/brain-derived neurotrophic factor (BDNF) signaling pathway. METHODS The diabetes model rat with depression was established by high fat and high sugar diet+intraperitoneal injection of streptozotocin+chronic unpredictable stress-induced depression. The successfully modeled rats were randomly divided into model group, positive control group (0.18 g/kg metformin and 1.8 mg/kg fluoxetine, gavage), curcumin low-dose and high-dose groups (30, 60 mg/kg, gavage) and curcumin high-dose+CREB inhibitor group [60 mg/kg curcumin (gavage)+5 mg/kg CREB inhibitor 666-15 (intraperitoneal injection)], with 12 rats in each group. Another 12 healthy rats were selected as the normal group. Each group was given a corresponding intervention for 4 weeks, the fasting blood glucose level of rats was detected, and the depression of rats was assessed. The levels of corticosterone (CORT) and inflammatory factors [tumor necrosis factor-α (TNF-α), interleukin- 1β (IL-1β), IL-6] in serum, and the levels of norepinephrine (NE) and 5-hydroxytryptamine (5-HT) in hippocampal tissue were determined. The pathological changes and neuronal apoptosis were observed in the hippocampal tissue of rats in each group; the expression levels of CREB, BDNF mRNA and protein in hippocampal tissue were detected. RESULTS Compared with the normal group, the hippocampal tissue of rats in the model group was severely damaged, and neurons were scattered, while the fasting blood glucose, the forced swimming immobility time, the tail suspension immobility time, serum levels of CORT, TNF-α, IL-1β and IL-6, and neuron apoptosis indexes were all increased or prolonged significantly (P<0.05). The levels of NE and 5-HT, the number of surviving neurons, and the expression levels of CREB and BDNF mRNA and protein in hippocampal tissue were decreased significantly (P<0.05). Compared with the 的model group, the damage to hippocampal tissue was relieved in the positive control group and curcumin groups, while the above indexes were improved significantly (P<0.05). The improvement effect of curcumin high-dose group was better than that of curcumin low-dose group (P<0.05). CREB inhibitor could significantly reverse the ameliorative effect of high-dose curcumin on the model rats (P<0.05). CONCLUSIONS Curcumin can improve the depression of diabetes model rats with depression, and relieve neuronal damage and inflammatory response, the mechanism of which may be associated with activating CREB/BDNF signaling pathway.

2.
Chinese Journal of Neurology ; (12): 1018-1026, 2023.
Article in Chinese | WPRIM | ID: wpr-994927

ABSTRACT

Objective:To analyze the clinical phenotype, copy number variation, treatment and follow-up characteristics of children with typical 16p11.2 deletion syndrome.Methods:The clinical data of 10 children with typical 16p11.2 deletion syndrome who were treated in the Department of Neurology, Children′s Hospital of Fudan University from August 2011 to December 2021 were retrospectively collected, and their clinical phenotype, copy number variation, treatment and follow-up were summarized.Results:Among the 10 children, 4 are female and 6 are male, all with epilepsy. Nine patients had epilepsy in infancy, and the age of onset was 6.0 (4.0, 8.5) months. Four cases had focal seizures (1 with fever), 4 had generalized tonic-clonic seizures, and 2 had focal seizures with generalized tonic-clonic seizures. Eight cases had cluster seizures (more than 2 to 10 seizures within 24 hours), and 1 case had 1 status epilepticus. Nine children did not show obvious developmental delay at the onset of epilepsy, and 1 child had developmental delay at the onset of epilepsy at 14 months of age. One child had parallel toes at left foot, and 1 had macrocephaly and low limb muscle tone. Genetic testing found that 10 children carried typical 16p11.2 heterozygous deletion, the starting position of the deletion fragment was Chr16:29478119-29675016, the ending position was Chr16:30125670-30206112, and the deletion length was 525-712 kb, all of which were considered pathogenic variants. In the antiepileptic drug treatment, 4 children were treated with oxcarbazepine, 2 with sodium valproate, 2 was switched to oxcarbazepine after levetiracetam was ineffective, 1 with levetiracetam combined with sodium valproate, and 1 with levetiracetam in combination with sodium valproate and ketogenic diet, and all 10 children had no seizures. One patient developed episodic exercise-induced dyskinesia at school age, and the seizures decreased after treatment with oxcarbazepine. Follow-up of 10 children found that 9 children had different degrees of developmental delay (language was significantly affected), 3 cases were combined with autism-like manifestations, and 1 case had poor comprehension, learning difficulties, and repeated grades after entering regular primary schools.Conclusion:The typical 16p11.2 microdeletion syndrome has the deletion of gene fragments in the proximal region of 16p11.2, characterized by drug-responsive cluster seizures with onset in infancy, which may be accompanied by language delay, autism spectrum disorder and nonspecific malformations.

3.
Chinese Journal of Neurology ; (12): 298-304, 2023.
Article in Chinese | WPRIM | ID: wpr-994831

ABSTRACT

Objective:To analyze the clinical characteristics and genetic features of SMC1A gene related disorders. Methods:The data of 5 children with SMC1A gene variants were collected from Children′s Hospital of Fudan University from February 2018 to January 2022. The clinical features, electroencephalogram (EEG), brain imaging and gene testing results were summarized. Results:Among the 5 patients, 4 are females and 1 is male. Two female cases are siblings. One boy had dysmorphic features, consisting of bilateral ptosis, synophrys, a short nose and upturned nasal tip. He also had patent foramen ovale plus atrial septal defect, unilateral cryptorchidism and microcephaly. Three cases had microcephaly. Two girls had patent foramen ovale, and 2 girls had microcephaly. Four cases had epilepsy, and age at seizure onset ranged from 2 to 52 months. Multiple seizure types were observed, including bilateral tonic clonic seizures in 2 patients, and focal seizures in 3 patients. The seizures in 3 cases were in cluster. All patients had developmental delay, including 1 patient with mild and 4 patients with moderate to severe developmental delay. Three patients had slow background activity in EEG. Interictal EEG showed abnormal discharges in 4 patients, including focal discharges in 3 cases and generalized discharges in 1 case. Brain magnetic resonance imaging was normal in 3 patients and showed mild cortical thickening in 1 case. All cases harbored 4 SMC1A gene variants, including 2 missense variants and 2 frameshift variants (c.580_587del, c.2699delG, c.3362G>A, c.1486C>T). Three cases harbored heterozygous SMC1A variants and 2 cases carried somatic mosaic SMC1A variants with 17.5% and 88.1% mosaicism in peripheral blood. The follow-up lasted for 3 months to 4 years. The epilepsy was refractory in 2 cases. During the follow-up, all cases had very slow developmental progress or developmental retardation. All cases had different levels of growth retardation. The scores of Cornelia de Lange syndrome (CdLS) phenotypes in 5 cases were 2-6. One case had the combined phenotypes of atypical CdLS and developmental epileptic encephalopathy (DEE). The phenotype was atypical CdLS in 1 case and DEE in 1 case. The phenotypes of 2 cases with SMC1A missense variants were mild, manifesting as non-refractory epilepsy and moderate to severe developmental delay. Conclusions:All of cases with SMC1A gene variants have developmental delay. Most of the patients have clusters of seizures and some dysmorphisms. The phenotypes of SMC1A gene related disorders are diverse. Except CdLS and DEE, there are some patients with mild phenotype due to missense variants of SMC1A gene.

4.
Article in Chinese | WPRIM | ID: wpr-993314

ABSTRACT

The histopathological growth pattern (HGP) of colorectal cancer liver metastasis (CRLM) is correlated with the prognosis of patients. Patients with desmoplastic HGP have a better prognosis. The latest international scoring guidelines have modified the cut-off value of HGP, and divides it into two types: complete desmoplastic HGP and incomplete desmoplastic HGP. However, the relationship between the HGPs and the treatment response to systemic treatment is still unclear. It is necessary to develop non-invasive methods to evaluate changes in HGP during treatment in the future. This paper reviews the new scoring consensus and clinical applications of HGP in CRLM.

5.
Article in Chinese | WPRIM | ID: wpr-990047

ABSTRACT

Clinical data of two patients with congenital myasthenia syndrome type 22 (CMS22) treated at the Children′s Hospital of Fudan University from February 2019 to November 2021 were retrospectively analyzed, and relevant literatures were reviewed.Both patients were female, aged 3 months 18 days and 3 months 26 days, respectively, with typical clinical features of CMS (postnatal onset, skeletal muscle weakness, feeding difficulties, and delayed motor development). Genetic testing revealed that one patient had a homozygous frameshift mutation of the PREPL gene from maternal uniparental disomy c. 1282_1285del(p.F428fs*18), and the other one had a compound heterozygous mutation, including the paternal homozygous frameshift mutation of the PREPL gene and maternal monoallelic nonsense mutation and splicing mutation c. [1501G>T; 2020+ 1G>T], p.[G501*; -]. Two patients were treated with Pyridostigmine bromide at the age of 6 months old and 4 months old, respectively, and the medication last for 15 months and 3 months (still under treatment), respectively.The treatment was effective.Through literature review, 7 English language articles were retrieved, involving 13 cases (2 cases in the presented study were included). The main clinical symptoms of CMS22 included neonatal onset with feeding difficulties and motor development delay, accompanied by cognitive impairment, growth hormone deficiency, and obesity.Genetic testing is favorable to the early diagnosis, early treatment, and symptom relief.

6.
Frontiers of Medicine ; (4): 747-757, 2023.
Article in English | WPRIM | ID: wpr-1010792

ABSTRACT

Emerging SARS-CoV-2 variants have made COVID-19 convalescents susceptible to re-infection and have raised concern about the efficacy of inactivated vaccination in neutralization against emerging variants and antigen-specific B cell response. To this end, a study on a long-term cohort of 208 participants who have recovered from COVID-19 was conducted, and the participants were followed up at 3.3 (Visit 1), 9.2 (Visit 2), and 18.5 (Visit 3) months after SARS-CoV-2 infection. They were classified into three groups (no-vaccination (n = 54), one-dose (n = 62), and two-dose (n = 92) groups) on the basis of the administration of inactivated vaccination. The neutralizing antibody (NAb) titers against the wild-type virus continued to decrease in the no-vaccination group, but they rose significantly in the one-dose and two-dose groups, with the highest NAb titers being observed in the two-dose group at Visit 3. The NAb titers against the Delta variant for the no-vaccination, one-dose, and two-dose groups decreased by 3.3, 1.9, and 2.3 folds relative to the wild-type virus, respectively, and those against the Omicron variant decreased by 7.0, 4.0, and 3.8 folds, respectively. Similarly, the responses of SARS-CoV-2 RBD-specific B cells and memory B cells were boosted by the second vaccine dose. Results showed that the convalescents benefited from the administration of the inactivated vaccine (one or two doses), which enhanced neutralization against highly mutated SARS-CoV-2 variants and memory B cell responses. Two doses of inactivated vaccine among COVID-19 convalescents are therefore recommended for the prevention of the COVID-19 pandemic, and vaccination guidelines and policies need to be updated.

7.
Article in Chinese | WPRIM | ID: wpr-979919

ABSTRACT

ObjectiveTo explore the effect of mint juice on the nitrite content in pickled cabbage, and to determine the best concentration of mint juice through comprehensive sensory evaluation. MethodsThe control variates method was used to conduct this single factor experiment. The pickled cabbage processing was divided into five groups, one control group CK, and four experimental groups, Lp100, Lp80, Lp60, Lp40, respectively. The data were analyzed by using test of normality, homogeneity of variance test, ANOVA and multiple comparisons. ResultsThe content of nitrite in the experimental group with mint juice was much lower than that in the control group. During each day, as the concentration of mint juice increased, the removal efficiency also increased and the nitrite content in pickled cabbage decreased, too. When the concentration of mint juice was 100%, the nitrite content in pickled cabbage remained the lowest during 1-5 days of fermentation. On the fifth day of fermentation, the removal efficiency of nitrite in pickled cabbage by mint juice with 100% concentration reached the highest (49.55%). Adding 60% mint juice to pickled cabbage showed the highest score of 92 in sensory evaluation. ConclusionMint juice can reduce the nitrite content in pickled cabbage and make pickled cabbage a better flavor. Result indicates that 60% mint juice is the best concentration for a comprehensive effect.

8.
Frontiers of Medicine ; (4): 1-11, 2023.
Article in English | WPRIM | ID: wpr-971632

ABSTRACT

Emerging SARS-CoV-2 variants have made COVID-19 convalescents susceptible to re-infection and have raised concern about the efficacy of inactivated vaccination in neutralization against emerging variants and antigen-specific B cell response. To this end, a study on a long-term cohort of 208 participants who have recovered from COVID-19 was conducted, and the participants were followed up at 3.3 (Visit 1), 9.2 (Visit 2), and 18.5 (Visit 3) months after SARS-CoV-2 infection. They were classified into three groups (no-vaccination (n = 54), one-dose (n = 62), and two-dose (n = 92) groups) on the basis of the administration of inactivated vaccination. The neutralizing antibody (NAb) titers against the wild-type virus continued to decrease in the no-vaccination group, but they rose significantly in the one-dose and two-dose groups, with the highest NAb titers being observed in the two-dose group at Visit 3. The NAb titers against the Delta variant for the no-vaccination, one-dose, and two-dose groups decreased by 3.3, 1.9, and 2.3 folds relative to the wild-type virus, respectively, and those against the Omicron variant decreased by 7.0, 4.0, and 3.8 folds, respectively. Similarly, the responses of SARS-CoV-2 RBD-specific B cells and memory B cells were boosted by the second vaccine dose. Results showed that the convalescents benefited from the administration of the inactivated vaccine (one or two doses), which enhanced neutralization against highly mutated SARS-CoV-2 variants and memory B cell responses. Two doses of inactivated vaccine among COVID-19 convalescents are therefore recommended for the prevention of the COVID-19 pandemic, and vaccination guidelines and policies need to be updated.

9.
Chinese Journal of Neurology ; (12): 1047-1054, 2021.
Article in Chinese | WPRIM | ID: wpr-911833

ABSTRACT

Objective:To explore the clinical characteristics of children with tyrosine hydroxylase deficiency (THD) in order to recognize this disease early as to optimize the treatment to improve the prognosis.Methods:A retrospective analysis was done on the clinical data of nine children with THD who were diagnosed at the Children′s Hospital of Fudan University from May 2018 to May 2020, including name, gender, age, age of onset, age of presentation, age of diagnosis, clinical manifestations, head imaging, tyrosine hydroxylase gene mutation, treatment, follow-up, and other results, which were classified according to Willemsen′s method, and the clinical characteristics were summarized and a literature review was carried out.Results:There were five males and four females with the age at onset ranged from newborn to two years and six months (median three months). The duration of diagnosis ranged from four months to five years and seven months (median nine months). The presenting symptom was motor retardation in seven cases. Clinical symptoms included hypokinesia in eight cases, limb dystonia in five cases, truncal hypotonia in four cases, dysphagia/dysarthria in four cases, oculogyric crises in four cases, tremor in three cases, rigidity in three cases, mask faces in three cases, bilateral ptosis in two cases, hypersalivation/sweating in two cases, diurnal fluctuation in two cases, myoclonic jerks in one case, and status dystonicus in one case. Cranial magnetic resonance imaging was normal in seven cases and non-specific in two cases (backward myelination in one case and bilateral ventricle enlargement and decreased white matter in another one). Eight tyrosine hydroxylase gene variants were found, including four missense variants, two frameshift variants, one shear variants and one nonsense variant, as well as three novel variants [c.1505_1518dup (p.R507Afs *23), c.1128_1138del (p.Q377Gfs *12), c.1058A>G(p.H353R)]. All patients were treated with levodopa and benserazide hydrochloride tables. The initial and maintenance doses of type A were 1.7-8.3 mg·kg -1·d -1 and 4.5-20.0 mg·kg -1·d -1, respectively. The initial and maintenance doses of type B were 1.7-12.5 mg·kg -1·d -1 and 4.6-12.0 mg·kg -1·d -1, respectively. In type A, four patients had dyskinesis which was relieved by decreasing the dose or maintaining the same dose of levodopa. One case of type B had dyskinesis which was self-resolving. Conclusions:Although the clinical manifestations of this disease are varied, the initial symptoms in children with onset within the first year of life are mostly hypokinesia, truncal hypotonia, and dystonia in limbs. It is recommended that children with THD, regardless of clinical type, should start at the minimum dose for easy segmentation in the range of 1.0-5.0 mg·kg -1·d -1, and the maintenance dose can be adjusted according to the individual response of the child. The incidence of dyskinesia of this disease is not low, but most can be treated by decreasing the initial dose and delaying the dosage rate.

10.
Journal of Chinese Physician ; (12): 859-863, 2021.
Article in Chinese | WPRIM | ID: wpr-909633

ABSTRACT

Objective:To investigate the clinical effect of ultrasonic root canal intermittent irrigation in endodontic vascular reconstruction.Methods:32 young permanent teeth with pulp and periapical lesions were randomly divided into two groups ( n=32): experimental group was treated with ultrasonic root canal intermittent irrigation and the control group was rinsed with sodium hypochlorite root canal. The changes of periapical lesions and root development were evaluated by preoperative and postoperative clinical symptom observation and radiograph examination, and the clinical effect of endodontic vascular reconstruction was discussed. The time of inflammation control was discussed by analyzing the starting point from the first diagnosis to the date of mineral trioxide aggregate (MTA) coverage. Results:The clinical symptoms of the 16 affected teeth in the experimental group and the control group disappeared, the periapical lesions were eliminated, and the root continued to develop. In the experimental group, root formation was observed in 13 of the affected teeth, with a success rate of 81.25% and a reduction rate of 18.75%. In the control group, root formation was observed in 10 of the affected teeth, with a success rate of 62.5% and a reduction rate of 37.5%. There was no difference in the effective rate between the experimental group and the control group ( P>0.05). The control time of inflammation was (28.44±5.98)days in the experimental group and (34.13±7.17)days in the control group, with statistically significant differences ( P<0.05). Conclusions:Ultrasonic root canal intermittent swabbing applied to pulp revascularization can achieve good clinical effect and shorten the time of inflammation control.

11.
Article in Chinese | WPRIM | ID: wpr-864062

ABSTRACT

Objective:To explore the clinical characteristics of children with Streptococcus pneumoniae cellulitis. Methods:The bacterial culture information management system in 18 children′s hospitals from January 2012 to December 2017 were reviewed.Among 1 138 children diagnosed with invasive pneumococcal disease(IPD), 7 cases were hospitalized with cellulitis.Clinical information was collected and analyzed.Results:Seven cases of Streptococcus pneumoniae cellulitis accounted for 0.6%(7/1 138 cases) of 1 138 IPD cases in 18 hospitals.There were 5 males and 2 females.The onset age was from 1 month to 6 years old, and the median age was 2 years old.There were 4 cases in rural areas and 3 cases in urban areas.Langerhans cell histiocytosis (LCH) was found in 1 case.Clinical manifestations: fever, local swelling and pain with infection.The focus of cellulitis: orbital cellulitis in 2 cases, buccal infection in 2 cases, upper extremity, head and buttock infection in 1 case, respectively.At the beginning of the disease: 2 cases of orbital cellulitis were accompanied by nasosinusitis and suppurative otitis media, 1 case was treated with acute periapical inflammation, 1 case was 10 months after chemotherapy.Type of infection: 6 cases were complicated with bloodstream infection, 2 cases with bacterial meningitis and 1 case with pneumonia.Other culture results: 6 cases of Streptococcus pneumoniae were cultured in peripheral blood, 2 cases were positive in local pus culture.Drug sensitivity test: 6 cases were sensitive to Penicillin and Cephalosporin (Cefotaxime/Ceftriaxone), 1 case was resistant.Treatment: 3 patients were treated with Cephalosporins alone, 2 cases with Cephalosporins and Penicillins, 2 cases with Vancomycin and Meropenem for meningitis, 3 cases with local abscess by incision and drainage, 2 cases with meningitis in Intensive Care Unit, and 1 case with endotracheal intubation and ventilator assisted ventilation.The average length of stay was 14.3 days(5-41 days). Discharge outcome: 6 cases improved and 1 case died. Conclusions:Cellulitis is a rare type of infection in children with IPD.It is mainly found in the head, face and around the orbit.It may be accompanied by bloodstream infection or bacterial meningitis.Most of them have a good prognosis.

12.
Article | WPRIM | ID: wpr-833560

ABSTRACT

Objective@#The presence of coagulative necrosis (CN) in clear cell renal cell carcinoma (ccRCC) indicates a poor prognosis, while the absence of CN indicates a good prognosis. The purpose of this study was to build and validate a radiomics signature based on preoperative CT imaging data to estimate CN status in ccRCC. @*Materials and Methods@#Altogether, 105 patients with pathologically confirmed ccRCC were retrospectively enrolled in this study and then divided into training (n = 72) and validation (n = 33) sets. Thereafter, 385 radiomics features were extracted from the three-dimensional volumes of interest of each tumor, and 10 traditional features were assessed by two experienced radiologists using triple-phase CT-enhanced images. A multivariate logistic regression algorithm was used to build the radiomics score and traditional predictors in the training set, and their performance was assessed and then tested in the validation set. The radiomics signature to distinguish CN status was then developed by incorporating the radiomics score and the selected traditional predictors. The receiver operating characteristic (ROC) curve was plotted to evaluate the predictive performance. @*Results@#The area under the ROC curve (AUC) of the radiomics score, which consisted of 7 radiomics features, was 0.855 in the training set and 0.885 in the validation set. The AUC of the traditional predictor, which consisted of 2 traditional features, was 0.843 in the training set and 0.858 in the validation set. The radiomics signature showed the best performance with an AUC of 0.942 in the training set, which was then confirmed with an AUC of 0.969 in the validation set. @*Conclusion@#The CT-based radiomics signature that incorporated radiomics and traditional features has the potential to be used as a non-invasive tool for preoperative prediction of CN in ccRCC.

13.
Chinese Journal of School Health ; (12): 1299-1302, 2020.
Article in Chinese | WPRIM | ID: wpr-829112

ABSTRACT

Objective@#To investigate the relationship between classroom lighting and poor vision of primary and middle school students of poor vision with classroom natural light selecting and artificial lighting, so as to provide reference and basis for the prevention and control of eyesight of primary and middle school students.@*Methods@#A total of 1 734 students from 45 classrooms in 7 primary and secondary schools (2 in primary school, 2 in junior high school, and 1 in vocational school) in Baiyun District, Guangzhou were selected by stratified cluster sampling method for research. The classroom lighting environment was monitored by the illuminometer, the naked eye vision of students was detected by 5 m standard logarithmic vision light box, and the basic information and myopia-related behaviors of students were investigated by questionnaire. And the correlation between poor vision of primary and middle school students and classroom lighting was analyzed.@*Results@#The poor vision rate of primary and middle school students in Baiyun District of Guangzhou was 74.2%(1 286), the girls’ rate(79.7%) was higher than boys’(69.4%), the rate of senior high school students(63.4%) was higher than that of middle school students(81.1%), the rate of vocational school students(82.8%) was higher that of primary school students(60.2%), the rate of resident students(78.5%) was higher than that of non-resident students(69.6%). The results of multivariate analysis after controlling for confangulation factors showed that average illumination on the blackboard, and uneven illumination on the desk were associated with higher risk of poor vision[OR(OR95%CI)=1.51(1.01-2.25), 1.42(1.02-1.98),P<0.05)].@*Conclusion@#Poor eyesight of primary and middle school students in Baiyun District of Guangzhou city is serious, especially that of female students, senior high school students and resident students. There is a significant correlation between classroom lighting and poor vision in primary and middle school students. The blackboard and desk lighting are associated with higher risk of poor vision in primary and middle school students.

14.
Article in Chinese | WPRIM | ID: wpr-810414

ABSTRACT

Echinococcosis is an age-old disease that causes serious damage to the animal husbandry and the human health perennially. As a newly discovered species of Echinococus, E. shiquicus has the potential public health significance and could be a potential parasitic zoonosis. In this review, its etiology, life cycle, epidemiology, detection and diagnoses, public health etc. are discussed or summarized. Also, a series of comparisons among E. granulosus, E. multilocularis and E. shiquicus are made.

15.
Chinese Journal of Pediatrics ; (12): 830-836, 2019.
Article in Chinese | WPRIM | ID: wpr-800734

ABSTRACT

Objective@#To summarize the clinical and genetic features of β-propeller protein-associated neurodegeneration (BPAN).@*Methods@#The clinical data of 17 patients with BPAN with WDR45 gene variants were retrospectively collected at Children’s Hospital of Fudan University, Peking University First Hospital, Capital Institute of Pediatrics, Shengjing Hospital of China Medical University and Shanghai Children's Hospital from June 2016 to December 2018, and their clinical manifestations, electroencephalogram, neuroimaging and genetics were analyzed.@*Results@#Seventeen cases (13 females, 4 males), aged 1.1-8.8 years, were included. The median age of seizure onset was 14.5 months, from 3 months to 24 months of age, manifested with epileptic spasm in 6 cases and focal seizures in 5 cases. Eight patients had only one seizure type and 8 patients had two or more seizure types. Nine patients had complete remission of seizures. All 16 patients with seizures had developmental delay before the seizure onset, of whom 13 patients had moderate to severe seizures. The brain magnetic resonance imaging (MRI) was abnormal in 13 patients, including cerebral atrophy (10 cases) and thinning of the corpus callosum (9 cases). The brain magnetic susceptibility weighted imaging (SWI) in preschool stage showed prominent T2 hypointense signals in bilateral globus pallidus and brainstem ventral in two cases. Five seizure types (spasm, focal, absence, myodonic and generalized tonic clonic seizures)were found on ictal electroencephalogram(EEG) recordings. Compared to female patients(17(6-24) months of ege), male cases had earlier seizure onset (3, 4, 5, 18 months of age) . All patients had de novo variations in WDR45(6 nonsense, 4 frameshift, 3 missense and 4 splicing variations), with hemizygous variants in 3 males, mosaic variants in a male and heterozygous variants in 13 females, within which 5 variations had not been reported (c.977-1C>T,c.976+1G>C,c.10C>T,c.806del and c.110T>C).@*Conclusions@#The patients with BPAN have profound developmental delay and are vulnerable to seizures. The male patients with BPAN tend to have more severer clinical phenotype than females. Early brain SWI could facilitate the timely diagnosis of this disease.

16.
Article in Chinese | WPRIM | ID: wpr-755076

ABSTRACT

Objective To comparatively evaluate the clinical efficacy and adverse events of chemoradiotherapy combined with/without radioactive iodine-125 ( 125-I) implantation for locally advanced non-small cell lung cancer. Methods With locally advanced non-small cell lung cancer admitted to Department of Radiotherapy of Jianhu County People's Hospital and Yancheng Third People's Hospital from March 2014 to March 2015 of 38 patients were enrolled and randomly divided into the observation ( chemoradiotherapy+ radioactive 125-I implantation, n=20) and control groups ( chemoradiotherapy, n=18) . All patients underwent conventional three-dimensional conformal radiotherapy and TC chemotherapy. In the observation group, 125-I implantation was performed at 3 months after chemoradiotherapy. The short-term clinical efficacy, progression-free survival, overall survival and adverse events were statistically compared between two groups. Results The total effective rate in the observation group was 85%, significantly higher than 56% in the control group ( P=0.046) . Until May, 2018, the progression-free survival rates in the observation and control groups were 65% and 61% ( P=0.457) , the overall survival rates were 32% and 26%, and the median survival time was 22.8( 95%CI: 20.5-23.5) and 21.3( 95%CI: 15.9-26.0) months ( P=0.633) . The incidence rates of adverse events in the observation and control groups were 45% and 78% ( P>0.05) . Conclusions Concurrent chemoradiotherapy combined with radioactive 125-I implantation yields high short-term efficacy in the treatment of locally advanced non-small cell lung cancer. It can prolong the long-term survival to certain extent and yield a low incidence rate of severe adverse events, which deserves to be validated by large sample-size investigations.

17.
Practical Oncology Journal ; (6): 115-121, 2019.
Article in Chinese | WPRIM | ID: wpr-752824

ABSTRACT

Objective The aim of this study was to investigate the expression of miR-455-5p in epithelial ovarian cancer and its effect on the development of epithelial ovarian cancer. Methods The miRNA expression data of normal ovarian epithelial tis-sues and epithelial ovarian cancer tissues GSE83693 were downloaded from the GEO database. Differential expression analysis was used to obtain differential expression data of miRNAs in epithelial ovarian cancer. The expression of miR-455 -5p was analyzed whether there is difference expression between normal ovarian epithelium and epithelial ovary cancer tissues; qRT-PCR was used to verify the differential expression prediction results; bio-informatics software was used to analyze the KEGG pathway enrichment and GO gene function annotation of miR-455-5p target genes,and to explore the disorders of dyregulated miR-455-5p in the devel-opment of epithelial ovarian cancer. Results A total of 101 cases of differentially expressed miRNAs were screened,34 cases were up-regulated and 67 cases were down-regulated. Among them,miR-455-5p was down-regulated significantly(P<0. 01),and the different fulds were -2. 9019. The results of qRT-PCR showed that the expression of miR-455-5p in epithelial ovarian cancer cells(SKOV-3,OVCAR-3 and A2780)was significantly lower than that in normal ovarian epithelial cells(IOSE-80),and the dif-ferential expression was statistically significant(P<0. 05). The results of KEGG pathway enrichment analysis showed that miR-455-5p regulated target genes mainly involved in five pathways,including TGF-β signaling pathway,Hippo signaling pathway,ECM-receptor interaction,transcriptional dysregulation pathway in cancer,and chronic granule cellular leukemia,which were associated with tumors. GO functional annotation analysis showed that the target genes regulated by miR-455-5p in the above pathway was mainly involved in protein phosphorylation,promoted cell proliferation and migration,inhibited apoptosis,promoted epithelial-mesenchymal transition,regulated transcription and regulated cell cycle,etc. ,which associated with tumorigenesis. Conclusion The expression of miR-455-5p is down-regulated in epithelial ovarian cancer. The miR-455-5p target genes are involved in the pathogenesis and function of epithelial ovarian cancer,and are associated with the development of epithelial ovarian cancer.

18.
Chinese Journal of Neurology ; (12): 97-104, 2018.
Article in Chinese | WPRIM | ID: wpr-710936

ABSTRACT

Objective To investigate the clinical and radiological features of children with first attack of inflammatory central nervous system disorders and seropositivity to myelin-oligodendrocyte glycoprotein (MOG).Methods The clinical course,cerebrospinal fluid (CSF),MRI studies,MOG status and outcomes were retrospectively analyzed in children with first attack of inflammatory central nervous system disorders and seropositivity to MOG who were hospitalized in Children's Hospital of Fudan University from January 2016 to April 2017.Results Thirteen patients including 8 males and 5 females were included in this study,the ratio of male/female was 1.6∶ 1,and the median age was six years.Ten patients were diagnosed with acute disseminating encephalomyelitis,and three with clinically isolated syndromes.Seven patients had elevated CSF lymphocyte cells,and five patients had elevated CSF protein.All the patients' sera were tested for the anti-MOG IgG,which ranged from 1∶10 to 1∶100 with cell-based assay.MRI results showed that multiple anatomical areas were involved.Twelve patients had brain lesions,in which 10 patients had multiple lobes involved and four had tumefactive demyelinating lesions.The affected anatomical areas included white matters in 11 cases,thalamus/basal ganglias in nine,corpus callosums in three,brainstems in 10,spinal cord in five.The MRI features were characterized by hazy,bilateral lesions without clear boundaries.Clinical symptoms were fully restored in all the patients after treated with intravenous globulin and methyl prednisone.The average follow-up time was 8.9 months,and none of the patients had clinical recurrence.Conclusions MOG was associated with many kinds of inflammatory demyelinating diseases of central nervous system in children.Most of them were diagnosed with acute disseminating encephalomyelitis which has an acute or sub acute clinical course.The clinical manifestations of patients showed diversity.Multiple anatomical areas were involved,and treatment with intravenous globulin and methyl prednisone was effective in the acute phase.All of the patients had a favorable outcome.

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Chinese Journal of Biotechnology ; (12): 785-793, 2018.
Article in Chinese | WPRIM | ID: wpr-687737

ABSTRACT

An in vitro synthesized random ssDNA library was subjected to 12 rounds of selection against anti-screening cells and sieving cells by SELEX. Normal and inflammatory cervical exfoliation cells were selected as anti-screening cells, and the cervical exfoliation cells of low-grade squamous intraepithelial lesion (CIN1), high-grade squamous intraepithelial lesion (CIN2, CIN3) and cervical carcinoma were selected as sieving cells during the screening process. Then, the highly specific aptamer CIN-Ap4 was established by the analysis of the specificity, affinity and cell immunofluorescence, which can be used as biomarker for Cervical Intraepithelial Neoplasia. Prime Premier 5.0 was applied to design a random ssDNA library. According to the fixed sequence at both ends of the library, a pair of primers were designed and synthesized. At the same time, the optimal annealing temperature, cycle times and primer concentration ratio of PCR procedure were selected. The results under the optimal condition are shown as follows. In the 50 μL reaction system, the optimum reaction conditions of symmetry PCR are as follows: annealing temperature is 49.5 ℃, number of cycles is 15. The optimal reaction conditions of indirect asymmetric PCR are as follows: the primer concentration ratio is 80:1, and the number of cycles is 35. The experiment proves that the oligonucleotide library is constructed successfully, and the highly specific dsDNA and ssDNA can be obtained under optimal PCR conditions with good repeatability, which establishes the foundation for the further exploration and experimentation.

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Chinese Journal of Pediatrics ; (12): 915-922, 2018.
Article in Chinese | WPRIM | ID: wpr-810293

ABSTRACT

Objective@#To explore the clinical features, the serotype distribution and drug resistance of the isolates in patient with invasive pneumococcal disease (IPD).@*Methods@#By retrieving the laboratory information system in 18 children′s hospitals from 2012 to 2017, the children with IPD were enrolled. Streptococcus pneumoniae (Spn) must be isolated from the sterile sites (blood, cerebrospinal fluid, hydrothorax and joint effusion etc.). The clinical characteristics, serotype, drug resistance, treatment and prognosis were reviewed and analyzed. According to the telephone follow up results, the patients were divided into death group and recovered group. The index as an independent risk factor of mortality was demonstrated by multivariate logistic regression analysis.@*Results@#There were 1 138 children with IPD, including 684 male and 454 female. The proportion of male to female was 1.5∶1. The age ranged from one day to 16 years. The median age was 1 year 3 month. The majority was under 5 years of age (89.3%, n= 1 016), especially under 2 years of age (61.9%, n=704). In all cases, 88.2% (n=1 004) were community acquired infection. The infections included meningitis (n=446, 39.2%), pneumonia with bacteremia (n=339, 29.8%), and bacteremia without focus (n=232, 20.4%). Underlying diseases were found in 242 cases (21.3%). Co-infections were determined in 62 cases (5.4%) with mycoplasma, 27 cases (2.4%) with adenovirus and 34 cases with influenza virus (3.0%). The penicillin insensitivity (PNSP) rates in meningitis and non-meningitis isolates were 69.5% (276/397) and 35.9% (221/615), respectively. There were 81 strains serotyped, in which 93.8% (76/81) were covered by 13-valent protein-polysaccharide conjugate vaccine (PCV13). In the 965 patients who were followed up by phone call, 156 cases (16.2%) were confirmed dead. The independent risk factors for the death were under 2 years of age (OR=2.143, 95%CI 1.284-3.577, P=0.004), meningitis (OR=3.066, 95%CI 1.852-5.074, P<0.01), underlying disease (OR=4.801, 95%CI 2.953-7.804, P<0.01), septic shock(OR=3.542, 95%CI 1.829-6.859, P<0.01), disseminated intravascular coagulation (DIC) (OR=4.150, 95%CI 1.468-11.733, P=0.007), multiple organ failure (OR=12.693, 95%CI 6.623-24.325, P<0.01) and complications of central nervous system (OR=1.975, 95%CI 1.144-3.410, P=0.015).@*Conclusions@#Most children with IPD were under 5 years of age, having underlying diseases and acquired the infection in community. The independent risk factors for death were under two years old, meningitis, underlying diseases and multiple organ failure. The problem of drug resistance was severe. The universal immunization of PCV13 would be effective to prevent IPD in Chinese children.

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