Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children / 中国当代儿科杂志

OBJECTIVES@#To study the clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children.@*METHODS@#The medical data of 200 children with epilepsy who underwent a genetic analysis of epilepsy by the whole exon sequencing technology were collected retrospectively, of whom 9 children with epilepsy had 16p11.2 microdeletion. The clinical phenotype and genetic features of the 9 children with 16p11.2 microdeletion were analyzed.@*RESULTS@#The detection rate of 16p11.2 microdeletion was 4.5% (9/200). The 9 children with 16p11.2 microdeletion were 3-10 months old. They experienced focal motor seizures with consciousness disturbance, and some of the seizures developed into generalized tonic-clonic seizures. The interictal electroencephalogram showed focal or multifocal epileptiform discharge, and all 9 children responded well to antiepileptic drugs. The 9 children had a 16p11.2 deletion fragment size of 398-906 kb, and the number of deleted genes was 23-33 which were all pathogenic mutations. The mutation was of maternal origin in 2 children, of paternal origin in 1 child, and de novo in the other children.@*CONCLUSIONS@#16p11.2 microdeletion can be detected in some children with epilepsy. Most of the 16p11.2 microdeletion is de novo mutation and large gene fragment deletion. The onset of 16p11.2 microdeletion-related epilepsy in children is mostly within 1 year of life, and the epilepsy is drug-responsive.

Establishment of Secondary HLH Mouse Model and Effect of Ruxolitinib on Disease Manifestations of Model Mide / 中国实验血液学杂志

OBJECTIVE@#To establish a secondary hemophagocytic lymphohistiocytosis(HLH) mouse model, and to investigate the effect of ruxolitinib on the disease manifestation of model mice.@*METHODS@#Wild type C57BL/6 mice were randomly divided into 4 groups: two groups of mice were intraperitoneally injected with CpG oligodeoxynucleotide 1826 (CpG-ODN1826) every other day to induce HLH, and other two groups were control groups. One group of the CpG-ODN1826 groups and one of the control groups were given ruxolitinib, and other two groups were given the same amount of PBS. Blood samples, serum ferritin and hepatic/spleen weights of experimental mice were detected and serum cytokine levels were measured by ELISA.@*RESULTS@#Compared with the control groups, the levels of white blood cells, hemoglobin and platelets in the CpG-ODN1826 groups were significantly lower (P＜0.05); and liver/body weight, spleen/body weight, serum ferritin, sCD25, IL-10, IL-1β, IFN-Ƴ, IL-12p70, GM-CSF, TNF-α and IL-18 levels significantly increased (P＜0.05). There was no significant difference in the levels of IL-2, IL-4, IL-5, IL-6, IL-22, IL-13, IL-27 and IL-23 between the two groups (P＞0.05). The spleen in CpG group had disordered internal structure, expanding red pulp and hyperplastic nucleated cells. The liver had severe perivascular inflammations. The spleen/weight of the ruxolitinib-treated mice in the CpG-ODN1826 group was significantly smaller than that of the unapplied ruxolitinib (P＜0.05).@*CONCLUSION@#The CpG-ODN1826 can induce secondary HLH symptoms in wild type C57BL/6 mice. Ruxolitinib can alleviate the symptoms of splenomegaly in HLH model mice.

Medical Cases of Clinical Application of Food Guide Sluggish Method / 中国中医药信息杂志

Different diseases may have the same pathogenesis in the development process of the disease. Accurately grasping the main symptoms of the disease to analyze pathogenesis is a prerequisite for prescription and medication, and the guarantee to enhance the clinical efficacy as well. Diet injuries are common pathogenic factors of pediatric diseases, which can cause respiratory, digestive and nervous and others system diseases. Diet injures should be paid attention in clinical syndrome differentiation. This article analyzed the application of food guide sluggish method in pediatric diseases through medical cases, with a purpose to give more inspiration to clinical doctors.

Total flavonoid from Glycyrrhizae Radix et Rhizoma and its ingredient isoliquiritigenin regulation M2 phenotype polarization of macrophages / 中国中药杂志

To study the mechanisms of total flavonoid from Glycyrrhizae Radix et Rhizoma (TFGR) and its ingredient isoliquiritigenin (ISL) on their regulation of M2 phenotype polarization of macrophages. IL-4 (60 μg x L(-1)) induced RAW264.7 cells for 6 h to establish the M2 macrophage model. TFGR and ISL restrained breast cancer cells migration with the aid of M2 macrophages in vitro. TFGR and ISL inhibited gene and protein expression of Arg-1, up-regulated gene of HO-1 and protein expression of iNOS, enhanced the expression of microRNA 155 and its target gene SHIP1, meanwhile down-regulated.the phosphorylation of STAT3 and STAT6. So TFGR and ISL were the bioactive fraction and ingredient in Glycyrrhizae Radix et Rhizoma to reverse M2 phenotype macrophages polarization. TFGR and ISL inhibited the promotion of M2 macrophages to breast cancer cells migration in vitro, STAT signal pathways and miR155 were partly involved.

Advance in studies on regulatory mechanism of phenotype polarization of macrophages and intervention with traditional Chinese medicines / 中国中药杂志

Macrophages are heterogeneous and diversified, and can be polarized into different phenotypes in various microenvironments and physiological or pathological conditions. Major macrophage subpopulations including classically activated(M1) and alternatively activated(M2) macrophages, which represent different surface receptors, secret different cytokines and chemokines, are regulated by different signal paths of transcriptions and epigenetic levels, and play distinctive roles in tumor progress. TCMs may improve the microenvironment by regulating phenotype polarization of macrophages. So far, specific biomarkers and polarized molecules mechanisms generated through the macrophage polarization approach are still unclear. In this article, we merely summarize the advance in domestic and foreign studies on phenotype polarization of macrophages and regulatory mechanisms and look into the future of intervention with TCMs.

Hedgehog signaling pathway and osteoporosis / 中国骨伤

Hedgehog signaling pathway is a conserved and important signaling pathway involved in proliferation and differentiation of many types of cells. Latest studies have found that Hedgehog signaling pathway may induce MSCs osteoblast differentiation by increasing the expression of the Runx2 and Osx and inhibit MSCs differentiate to adipocyte. Hedgehog signaling pathway may also promote osteoblast proliferation by regulating cyclin. This review summarizes the mechanism that Hedgehog signaling pathway regulates osteoblast differentiation and proliferation,and concludes that Hedgehog signaling pathway can regulate bone metabolism. It might provide new ideas for the treatment of osteoporosis.

Interference of osteopontin expression inhibits the invasion and metastasis of human hepatocellular carcinoma cell lines / 中华肝脏病杂志

<p><b>OBJECTIVE</b>To investigate the effect of osteopontin (OPN) on the invasion and metastasis of human hapatocellular carcinoma (HCC).</p><p><b>METHODS</b>HCC cell lines (HCC-LM3) were transfected with the chemically synthesized small interfering RNA (siRNA). Real-time PCR and Western blot were used to quantify the mRNA and OPN protein levels. The malignant phenotypes including cellular growth, colony formation and invasion capability of the HCC cells were analyzed.</p><p><b>RESULTS</b>The OPN mRNA and proteins levels were decreased by 75% and 80% in OPN siRNA treated cells. Colony formation and migratory capability were reduced in OPN siRNA treated cells (P < 0.05).</p><p><b>CONCLUSION</b>The specific siRNA is able to reduce the OPN expression at both the mRNA and protein levels and significantly inhibits the invasiveness of HCC cells.</p>

Osteopontin gene polymorphism in association with systemic lupus erythematosus in Chinese patients / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Osteopontin (OPN) is one kind of cytokine which can play a number of roles in promoting activation of T lymphocyte, regulating balance between Th1 and Th2, participating in cell-induced immunologic response and stimulating B lymphocyte to express multi-clone antibodies. Some researches have showed that OPN may be involved in the pathogenesis of systemic lupus erythematosus (SLE). The aim of this study was to investigate possible association of a single nucleotide polymorphism (SNP) at position 9250 in exon 7 of the OPN gene (OPN gene 9250) with SLE in Chinese patients.</p><p><b>METHODS</b>Totally 158 patients (18 males and 140 females) fulfilled the revised criteria for SLE by the American College of Rheumatology in 1982 and 180 healthy volunteer controls (34 males and 146 females), all from the south of China, consented to participate in the study. OPN gene 9250 polymorphism was detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).</p><p><b>RESULTS</b>The frequency of TT genotype of the OPN gene 9250 was significantly lower (52.5% vs 70%, P < 0.05) and the frequency of TC genotype of the OPN gene 9250 was significantly higher (43.7% vs 29.4%, P < 0.05) in SLE patients than in controls. There were significant differences in OPN gene 9250 allele and phenotype frequencies between the SLE patients and controls (P < 0.05). When the SLE patients and controls were separated into men and women, significant differences of frequencies were noted in TT genotype, TC genotype and allele of the OPN gene 9250 in women (P < 0.05) but not in men (P > 0.05).</p><p><b>CONCLUSIONS</b>OPN gene 9250 polymorphism appears to be associated with susceptibility to SLE in Chinese Han ethnic population.</p>

Development of a Rapid System for Bacteria Identification in 24 Hours / 中华医院感染学杂志

OBJECTIVE To develop a rapid system for bacteria identification and susceptibility test in 24 hours,and provide bacteriological evidence for the control of nosocomial infection and the timely diagnosis and treatment.METHODS The simple constant temperature box was replaced by revolving constant temperature box;2,3,5-triphenyltetrazolium chloride(TTC) and succinate were added to the culture bottle and the culture medium of drug susceptibility;the concentration of the reactive substrate in the bacterial biochemical tube and the number of the inoculated bacteria were increased at the same time.RESULTS The time of positive blood culture in the revolving constant temperature box was significantly shorter than that in the simple one(?2=74.92,P

Clinical analysis of 60 cases with malignant gastrointestinal stromal tumors / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To investigate the clinicopathological characteristics, and treatment of malignant gastrointestinal stromal tumors (MGIST).</p><p><b>METHODS</b>Immunohistochemistry was used to detect CD117, CD34, S100, vimentin and SMA expressions. The postoperative curative effect was compared between the patients with or without imatinib treatment.</p><p><b>RESULTS</b>Radical resection was performed in 60 cases. Twenty-two tumors with a mean diameter of 5.3 cm were potentially malignant, and 38 tumor with a mean diameter of 9.2 cm were malignant. Microscopical examination revealed haemorrhagia or necrosis, abundant tumor cells, heteromorphism and caryocinesia of the tumors. 54 Cases were CD117 positive, 53 cases CD34 positive, 48 cases vimentin positive, 27 cases S100 positiveì16 cases SMA positive. The two-year recurrence rate was 80.5% in the patients without postoperative imatinib treatment, significantly higher than 21.1% in the patients with postoperative imatinib treatment(P< 0.05).</p><p><b>CONCLUSIONS</b>CD117 and CD34 markers are most valuable diagnostic indexes of MGIST, but its final diagnosis depends on pathology. Postoperative imatinib treatment is most effective to control recurrence and metastasis.</p>