Objective To set up a method for the determination of ginsenoside Rg1 in Changyu Granules. Methods The content of ginsenoside Rg1 was determined by RP-HPLC on C18 column (4.6 mm?250 mm, 5 ?m). The mobile phase consisted of ethane nitrile and water (80:20). The flow rate was 1.0 mL/min. The detection wavelength was at 210 nm. Results Ginsenoside Rg1 showed a good linear relationship at the range of 0.125～4 ?g, r =0.999 7. The average recovery rate was 97.30%, RSD=1.31%. Conclusion The method is simple with good reproducibility, and can be used for the quality control of Changyu Granules.

Objective To summarize the etiological,clinical and imaging characteristics of cerebral venous sinus thrombosis (CVST) in children so as to provide the basis for early diagnosis and prompt treatment.Methods All the medical records including clinical manifestations,laboratory data,neuroimaging changes,treatment and short-term prognosis were analyzed retrospectively in 12 cases of CVST hospitalized in Children' s Hospital of Fudan University from Aug 2008 to May 2012.Results (1) Regarding the etiology:of the 12 cases,the causes of CVST were infection (2/12),intracranial tumor (1/12),nephrotic syndrome (2/12),cryptogenic disease (7/12).Seven out of all 12 cases without definite cause were presented subacute or chronic headache associated with progressive or acute exacerbation.Seven cases had been misdiagnosed.(2)Diagnosis:All 12 cases were made a definite diagnosis as CVST after neuroimaging examination of brain magnetic resonance imaging combined with magnetic angiography venography.(3) Short-term prognosis:all the patients were treated with anticoagulation,and 11 cases improved.Four of 7 cases with cryptogenic disease had different degrees of visual impairment,and no improvement were found after the treatment; One patient died although accepted digital subtraction angiography and balloon catheter technique.Conclusions Cerebral venous sinus thrombosis has no specific clinical manifestations and a high rate of misdiagnosis.Increased consideration and prompt magnetic angiography venography play a key role in the accurate diagnosis.Anticoagulation is safe and effective.

Objective: Toestablish and verify the method of genetic polymorphisms using time-of-flight mass spectrometry as a polygene testing platform. Methods: 998 cases of DNA samples and 20 cases of whole blood samples were collected from Fuwai hospital of Chinese academy of medical sciencesduring September 2017 to October 2018, including 512 cases of males and 506 cases of females.280 patients aged 18-30, 442 patients aged 31-64, and 296 patients aged ≥65.11 cardiovascular drugsrelatedgenes in 998 DNA samples were detected by time-of-flight mass spectrometry to evaluate the compliance rate compared with identifiedresults. 20whole blood samples were selected to detect 11 genes using both time-of-flight mass spectrometry and Sanger sequencing. The results were compared twice, and accuracy was evaluated according to Sanger sequencing as the gold standard. Ten cases of genomic DNA with wild-type loci were selected for specific evaluation by time-of-flight mass spectrometry. Samples containing all heterozygous genotypes were measured after gradient dilution to evaluate the detection sensitivity of the new method. Samples containing all 49 genotypes (two genotypes were not found because they are rare in Chinese population) were used in order to do the inter-assay and intra-assay precision evaluation. An anti-interference study was performed by selecting wild and homozygous mutant samples of represented heterozygous peak shape. Results: The results showed that the compliancerate of the single retrospective sample was over 99.5%. The resultsof time-of-flight mass spectrometry and Sanger sequencing was the same. The minimum detection limit of DNA was 0.4 ng, the inter-assay and intra-assay precision were 100%, and the degradation ability of the UNG enzyme was 10⁵ copies/μl in aerosol.The reaction system has a strong anti-interference ability to the genome and intermediate aerosol, and no cross-contamination between different matrices of the chip. Conclusions The time-of-flight mass spectrometry as a polygene detection system shows agood detection performance and can be applied to clinical detection. In addition, this paper established a performance verification research scheme based on the time-of-flight mass spectrometry platform polygene detection system.

Objective: To investigate the clinical features and genetic characteristics of patients with TBC1D24 gene mutations. Method: The clinical data of a patient with novel TBC1D24 compound heterozygous mutations from Children′s Hospital of Fudan University were collected, the related literature was searched from China National Knowledge Infrastructure, Wanfang Data Knowledge Service Platform, National Center from Biotechnology Information and Pubmed (up to April 2016) by using search terms "TBC1D24" "epilepsy" . The clinical features, electroencephalogram (EEG) and prognosis of the patients with TBC1D24 gene mutations were studied. Result: The patient was a boy with non-consanguineous healthy parents.He had an acute episode of focal continuous myoclonus lasting a few hours with consciousness preserved at the age of 3 months.Myoclonic jerks alternatively affected the eyelids, either the right or left limbs, sometimes triggered by fever or fatigue.The frequency was once 3-7 days.At the age of 6 months he was found to have myoclonus seizures with onset from a unilateral eyes lid and limb lasting 10 more minutes and subsequently affected four extremities or the trunk.They occurred once 3-4 months with perserved consciousness and lasted from several hours to up to ten more hours.They mostly disappeared during sleep.He had ataxia and mild mental retarding.Paroxysmal anomalies were not found on ictal traces.A novel compound heterozygous mutation of TBC1D24 gene, c. 730G>A, p.A244T and c. 1571G>C, p.R524P were found in the patient.Further study showed that c. 730G>A mutation was inherited from his father and c. 1571G>C from his mother. These two were not reported in public databases and predicted deleterious by Mutation Taster and polyphen-2.Literature relevant to TBC1D24 published all around the world was reviewed, no Chinese cases with TBC1D24 gene mutations had been reported. The total of 24 cases including the present case with TBC1D24 gene mutation were reported.Among them, 11 cases had compound heterozygous mutations and 13 cases had homozygous mutations.Ten mutations were identified, including 1 termination mutation, 1 frameshift mutation and 8 missense mutations. Conclusion TBC1D24 gene mutational analysis should be performed on patients with early-onset focal continuous myoclonus, if the etiology was unclear.

Objective: To summarize the gene mutation of early onset epileptic spasm with unknown reason. Method: In this prospective study, data of patients with early onset epileptic spasm with unknown reason were collected from neurological department of Children's Hospital of Fudan University between March 2016 and December 2016. Patients with known disorders such as infection, metabolic, structural, immunological problems and known genetic mutations were excluded. Patients with genetic disease that can be diagnosed by clinical manifestations and phenotypic characteristics were also excluded. Genetic research methods included nervous system panel containing 1 427 epilepsy genes, whole exome sequencing (WES), analysis of copy number variation (CNV) and karyotype analysis of chromosome. The basic information, phenotypes, genetic results and the antiepileptic treatment of patients were analyzed. Result: Nine of the 17 cases with early onset epileptic spasm were boys and eight were girls. Patients' age at first seizure onset ranged from 1 day after birth to 8 months (median age of 3 months). The first hospital visit age ranged from 1 month to 2 years (median age of 4.5 months). The time of following-up ranged from 8 months to 3 years and 10 months. All the 17 patients had early onset epileptic spasm. Video electroencephalogram was used to monitor the spasm seizure. Five patients had Ohtahara syndrome, 10 had West syndrome, two had unclear classification. In 17 cases, 10 of them had detected pathogenic genes. Nine cases had point mutations, involving SCN2A, ARX, UNC80, KCNQ2, and GABRB3. Except one case of mutations in GABRB3 gene have been reported, all the other cases had new mutations. One patient had deletion mutation in CDKL5 gene. One CNV case had 6q 22.31 5.5MB repeats. Ten cases out of 17 were using 2-3 antiepileptic drugs (AEDs) and the drugs had no effect. Seven cases used adrenocorticotropic hormone (ACTH) and prednisone besides AEDs (a total course for 8 weeks). Among them, five cases had no effect and two cases were seizure free recently. A case with GABRB3 (C.905A>G) had seizure controlled for 3 mouths. A case with ARX (C.700G>A) had seizure controlled for 6 mouths. Conclusion The early onset epileptic spasm with unknown reason is highly related to genetic disorders. A variety of genetic mutations, especially new mutations were found. Genetic heterogeneity of epileptic spasm is obvious.

Objective:To construct a mouse asthma model induced by mugwort pollen and to explore endotyping,providing methods for subsequent precision treatment.Methods:BALB/c mice were intraperitoneally injected with mugwort pollen extract(MPE)to sensitize,following MPE intranasal challenge to construct MPE allergic asthma murine model.Mice were randomly divided into PBS sensitization and PBS challenge(P-P),MPE sensitization and PBS challenge(M-P),MPE sensitization and MPE challenge model(M-M)groups.24 h after final challenge,mice were performed to examine airway responsiveness;bronchoalveolar lavage fluid(BALF)was harvested for cell counting and statistical classification of inflammatory cells through flow cytometry analysis.Pulmonary slides were collected for pathological examination,including HE,PAS,Masson and α-SMA immunohistochemical staining.ELISA was used to detect levels of IFN-γ,IL-4,IL-5,IL-13,IL-17A in lung tissue and serum,as well as serum total IgE and MPE-specific IgE,IgG1,IgG2a levels.Results:Pathological examination showed higher airway reactivity,more inflammatory cells infiltration around airway,obvious goblet metaplasia,thickening of airway smooth muscles and dramatical fibrin deposition around airway in model group.Total cell numbers of BALF were increased from<1×105 cells/ml in P-P group to>5×105 cells/ml in model group,in which eosinophils were predominant cellular type,levels of IL-4,IL-13,IL-17A in lung and IL-5,IL-13 levels in serum were significantly increased,as well as significant increasing levels of total IgE and MPE-specific IgE,IgG1,IgG2a.Conclusion:MPE-sensitized and challenged mice induces typical eosinophilic asthma featured with elevated eosinophils,as well as secretion of inflammatory factors of type 2 and type 17,IgE,IgG1 and IgG2a subtypes soars to high levels.

Perianal Paget's disease (PPD) is a rare malignant cutaneous tumor. This paper reported a case of PPD complicated by lung adenocarcinoma and anal canal cancer. The patient, a 76-year-old female, had been experiencing recurrent lower abdominal pain and perianal pruritus for the past 5 years. Upon physical examination, a cauliflower-like neoplasm in size of 5 cm×6 cm was observed on the right perianal skin, with local skin ulceration and a small amount of fluid discharge. The left perianal skin was also involved. In thoracoknee position, a hard mass was palpable in the rectal submucosa at 5-6 points 2 cm from the anal verge. Chest CT revealed multiple lesions in both lungs, indication of metastatic tumors. Further evaluation with fluorodeoxyglucose positron emission tomography and computed tomography (FDG-PET/CT) indicated multiple hypermetabolic nodules in the lungs, hypermetabolic lymph nodes throughout the body, early FDG uptake in a small patch of skin on the left hip, and increased FDG uptake in the anorectal region. Histopathological examination confirmed the diagnosis of lung adenocarcinoma. This resulted in the patient being diagnosed with PPD, lung adenocarcinoma, anal canal cancer, and systemic multiple lymph node metastasis. The combination of PPD with gastrointestinal tumors and other metachronous malignant tumors is highly prevalent. Colonoscopy, FDG-PET/CT, histopathology, and immunohistochemistry play crucial roles in early identification of local lymph node and distant involvement, facilitating the evaluation of potential malignant tumors and differential diagnosis. Treating methods for PPD are currently diverse, including postoperative combined or single chemotherapy, radiotherapy, targeted therapy, and photodynamic therapy. As trerapeutical options continue to develop, the extent and efficacy of surgery need to be reassessed.
Female ; Humans ; Aged ; Paget Disease, Extramammary/pathology* ; Fluorodeoxyglucose F18 ; Positron Emission Tomography Computed Tomography ; Adenocarcinoma of Lung/complications* ; Lung Neoplasms/complications*