Abstract: Objective　To report the clinical characteristics and genetic test results of two children with neurofibromatosis type 1 (NF1), and to provide reference for the comprehensive diagnosis-treatment and follow-up plans of NF1 patients based on the existing diagnosis and treatment progress of NF1. Methods　Two children with NF1 admitted to the Department of Children's Medicine, Haikou people's Hospital in May and June 2022 were selected to analyze the clinical data of their clinical manifestations, laboratory examination, genetic test results, diagnosis and treatment and follow-up retrospectively. Results　Two children had typical clinical manifestations, such as café-au-lait spots, axillary freckles, intraocular iris hamartoma. Venous blood was collected from case 1 and his parents for NF gene test, and a new mutation of c.4084C>T in the NF1 gene was found, and their parents did not have the pathogenic gene; the venous blood of the children in case 2 was tested for whole-exome gene analysis, and a heterozygous nonsense variant c.910C>T:p.R304 on the NF1 gene was found, , which was verified by Sanger sequencing to be inherited from his mother, his mother has café-au-lait spots and brain glioma, and has undergone surgery to remove the brain glioma, but has not undergone chemoradiotherapy or targeted therapy. No neurological malignancies were detected in either of the two children at follow-up until July 2022. Conclusions　The clinical manifestations of NF1 are relatively typical, genetic testing is conducive to determine its classification, and regular follow-up review can help to detect and treat malignant tumors early, thus improving the patient's quality of life.

OBJECTIVETo investigate the salvage therapy for a child with refractory and ( or) repeatedly-relapsed Langerhans cell histiocytosis.

METHODData of a patient with Langerhans cell histiocytosis whose disease relapsed repeatedly treated with cladribine was collected and analyzed and the related literature was reviewed.

RESULTThe initial symptoms developed 3 months after his birth, multiple systems (skin, skeleton, lung, liver) were involved; he was sequentially treated with LCH-III-Group I, JLSG-96, DAL-HX90 chemotherapeutic regimens. The patient got relapses for more than 3 times, but the disease got completely controlled after being treated with cladribine when the patient was 6 years old. The dosage was 10 mg/(m2 · d) for 4 days, and one course lasted for 28 days, the third to fifth courses of treatment used Arac in combination, the whole treating time lasted for 5 months. The patient remained in persistent remission for 8 months since discontinuation of treatment. "Langerhans cell histiocytosis" "refractory" "cladribine" were used as the key words to search in the data bases CNKI, Wanfangdata and Pubmed, 11 articles were picked. According to the literature, the effective rate of cladribine in treatment of repeatedly relapsing Langerhans cell histiocytosis was 44%-100%, with a good response of 22%-86%, the dose was 5-13 mg/(m2 · d). The main side effects were hematological system damages and infection.

CONCLUSIONThe effect of commonly used chemotherapeutic regimens is limited for children with refractory and (or) repeatedly-relapsed Langerhans cell histiocytosis and cladribine can be used as an alternative therapeutic option of the salvage therapy.

Child ; Cladribine ; therapeutic use ; Histiocytosis, Langerhans-Cell ; drug therapy ; Humans ; Immunosuppressive Agents ; therapeutic use ; Male ; Recurrence ; Skin

Objective To investigate the effect of leucine-rich-repeat-containing G-protein-coupled receptor 5 (LGR5 )on the proliferation and drug resistance of HeLa cells and its possible mechanism.Methods LGR5 expression was interfered using shRNA,and LGR5 knockdown HeLa cells were constructed.The effect of LGR5 on the proliferation and drug resistance of HeLa cell was evaluated by cell count,clone formation and MTT;the expressions of LGR5 and β-catenin in HeLa cells were detected by Western blot method.Results LGR5 knockdown HeLa cell line was successfully constructed;the cell growth rate and clone formation rate in shLGR5 group were markedly decreased compared to those in shCon group (P<0 .01 ).Drug resistance of HeLa to cisplatin differed significantly between shLGR5 group and shCon group (P<0.01 ).Moreover,the LGR5 knockdown inhibited the expression ofβ-catenin in HeLa cells.Conclusion LGR5 plays an important role in cell proliferation and drug resistance of HeLa cells,and its mechanism is related to Wnt/β-catenin signaling pathway.

In order to definitude the influence caused by the different sampling in voice assessment.Method:We comparing the results acquired by total section and subsection sampling.Result:The results acquired by subsection tended to normal more than those acquired by total section. Conclusion:Subsection sampling voice assessment might conceal the drgree of the disease state of patients

This article summarizes the bleaching of pulp by white-rot fungus, including the type of white-rot fungus, the type of pulp, the equipment used to bleach by white-rot fungus, and some problems and prospect in practical application by white-rot fungus.

Objective To investigate the effect of physical training on plasma N-terminal pro-brain natri- uretic peptide(NT-proBNP)levels in patients with chronic heart failure(CHF).Methods Eighty NYHAⅡ-ⅢCHF patients were randomly divided into a training group(n=42)and a control group(n=38).A 6-minute walk- ing test was performed within 24 hours after the patients were admitted.The 6-minute walking distance and plasma NT-proBNP levels were determined before and after 8 weeks of programmed physical training.The patients of both groups were treated with routine drugs for heart failure.6-minute walk training was only performed in the training group twice a day for 8 weeks.Results Physical training could significantly reduce plasma NT-proBNP levels and improve performance on the 6-minute walking test.Conclusions Physical training could significantly reduce plas- ma NT-proBNP levels and improve the motor function of patients with CHF,and could be helpful in delaying the de- velopment of CHF.

ObjectiveTo evaluate the ability of high resolution magnetic resonance (MR) imaging at 3.0 tesla to depict the characterization of human carotid arterial vessel wall and detect atherosclerotic lesions ex vivo in comparison to histopathologic results. MethodsEighteen carotid arteries obtained from 9 elderly donors underwent fat-suppressed T1 - and T2-weighted MR imaging at 3.0 tesla MR system with a mouse coil. Corresponding histological sections were obtained for the comparison. Correlation between MR images and histopathologic slices was obtained by Pearson or Spearman correlation coefficient.Cohen K was computed to quantify the agreement between MRI and histopathologic findings.Results Lumen area,intima and media area measured on fat-suppressed T2-weighted images showed stronger correlation with the corresponding histopathologic slices [ MRI vs.histopathology:( 27. 53 ± 6. 77 ) mm2 vs.( 25.83 ±6. 69 ) mm2, r2 ＝ 0. 91,P2 ＝ 0. 024, ( 12.31 ± 3. 31 ) mm2 vs.( 12. 28 ± 3.71 ) mm2, r2 ＝ 0. 70, P2 ＝ 0. 020,Median 12. 29 mm2(Min 1.12 mm2, Max 33.18 mm2) vs.Median 11.62 mm2(Min 0.89 mm2, Max 32. 84 mm2 ), r2 ＝ 0. 74, P2 ＝ 0. 016, respectively]. The Cohen K score between the MR imaging and American Heart Association classifications was 0. 74, which corresponds to a good agreement. Conclusions 3.0 T high-resolution multi-sequence MRI can clearly show the structure of ex vivo carotid artery wall and allow quantitative assessment.Fat-suppressed T2Wimaging has a greater advantagein presenting atherosclerotic lesions.

Objective To investigate the effect of transforming growth factor-?1 (TGF-?1) on the activity of connective tissue growth factor(CTGF) gene promoter in human renal proximal tubular epithelial cell line HK-2. Methods The regulation fragment of 5' flanking region of human CTGF gene was linked to pGL3-Basic vector. The recombinant plasmid pCTGF-luc was transient transfected to HK-2 cells. The activity of CTGF promoter after treatment of TGF-?1 and mitogen-activated prontein kinases (MAPK) pathway inhibitors was assayed by means of luciferase reporter gene assay system. Results TGF-?1-induced increase of CTGF promoter activity was concentration-dependent, with a plateau at 5 ng/ml by 1.82-fold vs control (P

Humans ; Hypersensitivity ; drug therapy ; Probiotics ; therapeutic use

In recent years, the incidence of tic disorders has increased, and it is not uncommon for the patients to treat the disease. The pathogenesis and pathogenesis of Western medicine are not yet clear, the clinical commonly used western medicine has many adverse reactions, traditional Chinese medicine (TCM) research is increasingly valued. Based on the software of TCM inheritance assistant system, this paper discusses Ding Yuanqing's experience in treating tic disorder with Professor. Collect yuan Qing Ding professor in treating tic disorder of medical records by association rules Apriori algorithm, complex system entropy clustering without supervision and data mining method, carries on the analysis to the selected 800 prescriptions, to determine the frequency of use of prescription drugs, the association rules between the drug and digging out the 12 core combination and the first six new prescription, medication transferred to the liver and extinguish wind, cooling blood and relieving convulsion, Qingxin soothe the nerves, with the card cut, flexible application, strict compatibility.
Data Mining ; Databases, Bibliographic ; Drug Prescriptions ; Drug Therapy, Combination ; Drugs, Chinese Herbal ; chemistry ; therapeutic use ; Humans ; Tic Disorders ; drug therapy ; Treatment Outcome