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ObjectiveIn this study, based on ultra-high performance liquid chromatography-mass spectrometry(UHPLC-MS/MS) and high-throughput transcriptome sequencing technology(RNA-seq), we investigated the mechanism of Yishen Huashi granules in regulating serum metabolites and renal messenger ribonucleic acid(mRNA) expression to improve diabetic kidney disease(DKD). MethodSD rats were randomly divided into normal group , model group and Yishen Huashi granules group, with 8 rats in each group. The rat model of DKD was established by intraperitoneal injection of streptozotocin. Yishen Huashi granules group was given 5.54 g·kg-1·d-1 of Yishen Huashi granules by gavage, and the normal group and the model group were given the same amount of normal saline for 6 weeks. During the experiment, the body weight and blood glucose of rats were monitored, and the rats were anesthetized 24 hours after the last administration, blood was collected from the inferior vena cava, serum was separated, and renal function, blood lipid, and inflammatory indicators were detected. Kidney tissue of rats was fixed in neutral paraformaldehyde, and stained with hematoxylin-eosin(HE), Masson and periodic acid-Schiff(PAS) to observe the renal pathological changes. UHPLC-MS/MS and RNA-seq were used to identify the changes of serum metabolism and the differences of renal mRNA expression, and real time fluorescence quantitative polymerase chain reaction(Real-time PCR) and Western blot were used to detect the differential mRNA and protein expression in renal tissue to explore the common expression mechanism. ResultCompared with the normal group, rats in the model group showed a decrease in body weight, a significant increase in blood glucose, urinary microalbumin to urinary creatinine ratio(UACR), blood urea nitrogen(BUN), cystatin-C(Cys-C), β2-microglobulin(β2-MG), interleukin-6(IL-6), triglyceride(TG) and total cholesterol(TC), and a significant decrease in total superoxide dismutase(T-SOD)(P<0.01). After the intervention of Yishen Huashi granules, all the indexes were improved to different degrees in rats(P<0.05, P<0.01). Compared with the normal group, the model group showed renal mesangial stromal hyperplasia, fibrous tissue hyperplasia and tubular vacuolar degeneration. Compared with the model group, the renal pathology of rats in Yishen Huashi granules group was improved to a certain extent. A total of 14 target metabolites and 96 target mRNAs were identified, the target metabolites were mainly enriched in 20 metabolic pathways, including sphingolipid metabolism, glycerophospholipid metabolism, and the biosynthesis of phenylalanine, tyrosine and tryptophan. The target mRNAs were enriched to obtain a total of 21 differential mRNAs involved in the TOP20 pathways closely related to glycolipid metabolism. A total of 6 pathways, glycerophospholipid metabolism, arachidonic acid metabolism, purine metabolism, primary bile acid biosynthesis, ascorbic acid and uronic acid metabolism, and galactose metabolism, were enriched by serum differential metabolites and renal differential mRNAs, among them, there were 7 differential metabolites such as phosphatidylethanolamine(PE) and 7 differential mRNAs such as recombinant adenylate cyclase 3(ADCY3). Seven differential metabolites had high predictive accuracy as verified by receiver operating characteristic(ROC) curve, and the results of Real-time PCR and Western blot were highly consistent with the sequencing results. ConclusionYishen Huashi granules can reduce UACR, BUN and other biochemical indexes, correct the disorder of glucose and lipid metabolism, and improve renal function of DKD rats. And its mechanism may be related to the regulation of the level of PE and other blood metabolites, and expression of Phospho1 and other mRNAs in the kidney, of which six pathways, including glycerophospholipid metabolism, may play an important role.
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Objective:To establish and validate analytic performance of laboratory-developed real-time quantitative polymerase chain reaction (RQ-PCR) test (LDT) for BCR::ABL1 p210 transcript.Methods:Using the primes and probes released by the Europe Against Cancer Program(EAC), we have established BCR::ABL1 p210 RQ-PCR test. The laboratory-specific conversion factor (CF) was determined by the WHO 1 st International Genetic Reference Panel, and a two-level internal control is developed using a mixture of K562 and HL60 cell lines was created to ensure traceability. Analytical performance, including analytical accuracy, analytical precision, linearity range, analytic sensitivity and specificity of RQ-PCR LDT test for BCR::ABL1 p210 transcript were validated according to CLIS guidelines. Furthermore, a comparison was made with an FDA-cleared RQ-PCR in vitro diagnostics (IVD) kit by Bland-Altman analysis. Results:The laboratory specific conversion factor (CF) for LDT RQ-PCR was determined to be 0.535 based on WHO 1 st International Genetic Reference Panel, which can be used to convert to the BCR::ABL international scale (BCR::ABL1 IS) reliably. The repeatability of BCR::ABL1 IS results at 4 different molecular response (MR0.5,MR1.5,MR2.5,MR3.5) levels are 7.44%, 5.33%, 9.12% and 18.06%, respectively, with total precision of 7.99%, 5.49%, 10.95% and 17.99%. The previous CAP proficiency test (PT) results from our laboratory were within the acceptable range of variation. MR results of our laboratory and MR mean value of all CAP-PT laboratory is highly correlated ( r=0.999, P<0.01), and consistent according to Bland-Altman analysis. Furthermore, the LDT method in our laboratory has a high correlation with the test results of FDA-cleared Qiagen IVD kit ( r=0.997, P<0.01). BCR::ABL1 IS results of BCR::ABL1 e13a2 transcript showed linearity within the range of 0.001%-7.454%, with a maximum coefficient of variation (% CV) 64.09%. The linearity range of e14a2 transcript BCR::ABL1 IS was 0.002%-12.398%, with a maximum % CV of 43.37%. The test has a limit of detection (LoD) of MR5.0 (0.001% IS) for e13a2 and MR4.8 (0.002% IS) for e14a2 transcript, respectively. The limit of quantitation (LoQ) for both e13a2 and e14a2 transcripts was MR4.7 (0.002% IS). The test exhibited 100% specificity, with no cross-reactivity observed between the p190 transcript and p210. Conclusions:The analytic performance of BCR::ABL1 p210 LDT RQ-PCR test from our laboratory is excellent, which can meet the clinical needs of BCR::ABL1 detection in patients with chronic myeloid leukemia.
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Renal fibrosis, the final pathological outcome of end-stage chronic kidney diseases, is associated with inflammation, oxidative stress, epithelial-mesenchymal transdifferentiation (EMT), and extracellular matrix deposition. It belongs to the categories of edema, ischuria, anuria and vomiting, and consumptive disease in traditional Chinese medicine (TCM), with the key pathogenesis of Qi deficiency and blood stasis and the primary treatment principle of replenishing Qi and activating blood. Astragali Radix-Salviae Miltiorrhizae Radix et Rhizoma mainly contains astragalosides, polysaccharides, calycosin, salvianolic acid, and tanshinone, with the effect of tonifying Qi and activating blood. Studies have shown that this herb pair and its active components can delay the progress of renal fibrosis by regulating multiple signaling pathways. With consideration to the pathogenesis of Qi deficiency and blood stasis, this article reviews the research progress in the mitigation of renal fibrosis by Astragali Radix-Salviae Miltiorrhizae Radix et Rhizoma from the aspects of protecting glomerular filtration barrier, inhibiting EMT and mesangial cell proliferation, improving renal hemodynamics, and protecting renal function. Furthermore, the mechanisms were summarized. Specifically, Astragali Radix-Salviae Miltiorrhizae Radix et Rhizoma and its effective components can improve mitochondrial function and fatty acid metabolism, alleviate endoplasmic reticulum stress and autophagy disorders, and inhibit immune inflammation and oxidative stress by regulating nuclear factor E2-related factor 2 (Nrf2)/PTEN-induced kinase 1 (Pink1), Nrf2/antioxidant response element (ARE), tumor necrosis factor-α (TNF-α)/nuclear transcription factor-κB (NF-κB), miR-21/Smad7/transforming growth factor beta (TGF-β), Wnt/β-catenin, long non-coding RNA-taurine up-regulated gene 1 (lncRNA-TUG1)/tumor necrosis factor receptor-associated factor 5 (TRAF5), Ras-related C3 botulinum toxin substrate 1 (Rac1)/cell division cycle protein 42 (CDC42), Ras homolog (Rho)/Rho-associated coiled-coil containing protein kinase (ROCK), phosphatidylinositol-3-kinase (PI3K)/protein kinase B (Akt), Janus kinase (JAK)/signal transducer and activator of transcription (STAT), peroxisome proliferator-activated receptor α (PPARα)/peroxisome proliferator-activated receptor γ coactivator l alpha (PGC-1α), and p38 mitogen-activated protein kinase (p38 MAPK). This review aims to provide references for the relevant research, give play to the role of Astragali Radix-Salviae Miltiorrhizae Radix et Rhizoma, and provide guidance for the clinical treatment of renal fibrosis.
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@#Myopia is a global public problem that causes visual impairment. Its occurrence and development are often accompanied by changes in the various structures of the eye, especially pathological myopia, which involves degenerative changes in the sclera, choroid, and retina. In recent years, with the increasing prevalence of myopia, the exploration of pathological mechanism and the prevention and treatment of myopia have become an important issue that cannot be ignored in the world. The occurrence and development of myopia involves the participation of many factors and can cause serious visual damage. As an important vascular tissue in the eye, the thickness change of choroid has been proved to play a vital role in the occurrence and development of myopia. In order to comprehensively and effectively prevent and control the occurrence and development of myopia, especially high myopia, the change of myopic choroidal thickness and its related mechanisms should be one of the main directions of the pathological mechanism of myopia. This article reviews the research of changes of myopia choroidal thickness by domestic and foreign scholars in recent years, to discuss the relationship between choroidal thickness, choroidal vasculature, choroidal molecular changes and myopia, myopia-related complications, and myopia-related visual impairment. Provide new ideas on prevention and intervention of myopia.
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Objective:To investigate the effect of aspirin on the outcomes in adult patients with ischemic moyamoya disease treated with encephaloduroarteriosynangiosis (EDAS).Methods:Adult patients with ischemic moyamoya disease treated EDAS in the Department of Neurosurgery, the Fifth Medical Center, PLA General Hospital from January 2015 to September 2018 were enrolled retrospectively. The control group only received EDAS treatment, and the aspirin group received EDAS and aspirin antiplatelet treatment. The data of the both groups were analyzed retrospectively and the effective rate of operation, the incidence of perioperative intracerebral hemorrhage, the incidence of recurrent cerebrovascular events at 6 months after operation and the improvement rate of the modified Rankin Scale (mRS) score were compared.Results:A total of 120 adult patients with ischemic moyamoya disease were enrolled, including 60 in the aspirin group and 60 in the control group. EDAS was performed on 107 cerebral hemispheres in both groups. The operative effective rate in the aspirin group was significantly higher than that in the control group (82.24% vs. 65.42%; χ2=7.836, P=0.005). There was no perioperative cerebral hemorrhage event in the aspirin group and the control group. There was no significant difference in the incidence of cerebral infarction within 6 months after operation, but the incidence of transient ischemic attack in the aspirin group was significantly lower than that in the control group (15% vs. 40%; χ2=9.404, P=0.002). In addition, the improvement rate of mRS score in the aspirin group at 6 months after operation was significantly higher than that in the control group (85% vs. 63.33%; χ2=7.350, P=0.007). Conclusions:The combination of EDAS and aspirin can effectively improve the outcomes of adult patients with ischemic moyamoya disease without increasing the risk of perioperative intracerebral hemorrhage.
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Objective: To observe the clinical efficacy of combining two needling manipulations, Er Long Xi Zhu (two dragons playing with a pearl) and Guo Yan Re (heat produced to reach the eyes), in treating dry eye syndrome (DES) of lung-yin deficiency pattern. Methods: Fifty-six eligible DES patients of lung-yin deficiency were randomized into an observation group and a control group, with 28 cases in each group. Same acupoints were selected in the two groups: Cuanzhu (BL 2), Sizhukong (TE 23), Taiyang (EX-HN 5) and Fengchi (GB 20) were chosen as the major points and Feishu (BL 13) and Chize (LU 5) as the adjuvant. Er Long Xi Zhu and Guo Yan Re needling manipulations were applied in the observation group while twirling reinforcing manipulation was used in the control group. Treatment was conducted once per day in both groups, for two sets of 15 consecutive days at a 2-day interval. Changes in the symptom score, tear break-up time (BUT) and tear production were observed afterwards, and the clinical efficacy was also compared between the two groups. Results: The total effective rate was 92.8% in the observation group, higher than 71.4% in the control group, and the between-group difference was statistically significant (P<0.05). After treatment, the symptom score, tear BUT and tear production showed significant improvements in both groups (all P<0.05); the symptom score, BUT and tear production in the observation group were significantly different from those in the control group (all P<0.05). Conclusion: Given the same acupoint selection, combining Er Long Xi Zhu and Guo Yan Re needling manipulations can produce more significant clinical efficacy than twirling reinforcing manipulation in treating DES of lung-yin deficiency pattern.
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Objective:To investigate the correlation between RNF213 gene p. R4810K polymorphism and posterior cerebral artery involvement in Chinese children with familial moyamoya disease.Methods:Children with familial moyamoya disease admitted to the Department of Neurosurgery, the Fifth Medical Center of PLA General Hospital from August 2004 to June 2018 were enrolled, and they were divided into posterior cerebral artery involved group and posterior cerebral artery uninvolved group. RNF213 gene p. R4810K single nucleotide polymorphism was detected. Multivariate logistic regression analysis was used to determine the independent risk factors for posterior cerebral artery involvement. Results:A total of 65 children with familial moyamoya disease were enrolled. Their age was 6.98±4.46 years and 37 (56.9%) were male. The first symptom of 55 children (84.6%) was cerebral ischemia, and 37 (56.9%) involved posterior cerebral artery. There were 3 (4.6%) children with p. R4810K AA genotype, 26 (40.0%) with GA genotype, and 36 (55.4%) with GG genotype. The p. R4810K genotype distribution in the posterior cerebral artery involved group was statistically different from that in the uninvolved group (GA+ AA genotype: 56.8% vs. 28.6%; χ2=5.124, P=0.024), and there were no statistical difference in gender, age, first symptom, and genetic pattern. Multivariate logistic regression analysis showed that after adjusting the first onset age and gender, p. R4810K G>A mutation was the only independent risk factor for posterior cerebral artery involvement (odds ratio 3.240, 95% confidence interval 1.082-9.705; P=0.020). Conclusion:The p. R4810K polymorphism of RNF213 gene is associated with posterior cerebral artery involvement in Chinese children with familial moyamoya disease.
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Hypertensive renal damage is one of the most serious complications of hypertension, and it is also the main cause of end-stage renal disease. Renal damage can further promote the rise of blood pressure and difficult to control, forming a vicious circle. Traditional Chinese medicine (TCM) considers that deficiency of the original and excess of the standard is its basic pathogenesis, and insufficient kidney-Qi and blood stasis are one of the most common syndromes of hypertensive kidney damage. Astragali Radix membranaceus is praised as the most important medicine for invigorating Qi, and Salviae Miltiorrhizae Radix is likened to "four things with the same function". Based on the theory of invigorating Qi and activating blood circulation, the effective ingredients of Astragali Radix membranaceus-Salviae Miltiorrhizae Radix are mainly astragaloside, Astragali Radix polysaccharide, mulberry isoflavone, salvianolic acid and tanshinone. Many studies have shown that in the process of hypertensive kidney damage, Astragali Radix membranaceu Its active ingredients, whether effective monomers, monomer compatibility or direct compatibility of drug pairs, can regulate blood pressure, reduce urinary protein, protect renal tubules, protect glomerular filtration barrier, improve renal hemodynamics and protect renal function by regulating multiple signal transduction pathways related to hypertensive renal damage. Lowering blood pressure and protecting renal function are two pronged functions. Based on the theory of Invigorating Qi and activating blood circulation, this paper reviews the research progress of Astragali Radix-Salviae Miltiorrhizae Radix in the treatment of hypertensive renal damage, with a view to providing scientific basis for the further study and clinical application of Radix astragali-Salviae Miltiorrhizae Radix in hypertensive renal damage.
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OBJECTIVE@#To report on a child with mental retardation caused by SYNGAP1 gene mutation.@*METHODS@#Peripheral blood samples were collected from the proband and her parents. High throughput sequencing (HTS) was employed for screening for potential mutation in the patient. Suspected mutation was validated by Sanger sequencing of the child and her parents.@*RESULTS@#By HTS, a previously unknown mutation [c.1656C>A (p.C552*)] was found in exon 10 of the SYNGAP1 gene in the proband. Sanger sequencing confirmed the heterozygous nature of the mutation and that neither of her parents carried the same mutation.@*CONCLUSION@#The dysmorphism and developmental delay of the child were probably due to the pathogenic mutation of the SYNGAP1 gene. HTS can facilitate elucidation of the genetic etiology with efficiency, which has great significance in the diagnosis, treatment and prognosis of the child.
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Child , Female , Humans , Exons , Heterozygote , High-Throughput Nucleotide Sequencing , Intellectual Disability , Genetics , Mutation , ras GTPase-Activating Proteins , GeneticsABSTRACT
Objective To investigate the relationship between fragmented QRS (fQRS) complex and the early left ventricular remodeling or heart function in patients with acute myocardial infarction(AMI).Methods A total of 76 patients with AMI hospitalized in CCU of the Second Hospital of Tianjin Medical University were enrolled in the study.Patients were divided into fQRS group (n=29) and non-fQRS group (n=47). The clinical data including ECG, laboratory indicators, coronary angiography results and real-time three-dimensional (RT-3D) echocardiography parameter were collected in two groups.The relationship between fQRS and baseline data,fQRS and RT-3D echocardiography parameter were analyzed.At the same time,the influencing factors of left ventricular remodeling and heart function were discussed in the study. Results Compared with non-fQRS group, left ventricular end-diastolic volume (LVEDV) and left ventricular end-systolic volume (LVESV)were significantly higher,and left ventricular ejection fraction(LVEF)was significantly lower in fQRS group(P<0.05).Several three-dimensional parameters including Tmsv16-SD(%)and Tmsv 16-Dif(%)were significantly higher in fQRS group than those in non-fQRS group(P<0.05).There were no significant differences in Tmsv 16-SD(ms),Tmsv 12-SD(ms),Tmsv 12-SD(%),Tmsv 6-SD(ms),Tmsv 6-SD(%),Tmsv 16-Dif(ms),Tmsv 12-Dif(ms),Tmsv 12-Dif(%),Tmsv 6-Dif(ms)and Tmsv 6-Dif(%)between two groups.Logistic regression analysis showed that fQRS and Gensini scores had effects on heart function.At the same time,fQRS was an independent predictor for left ventricular remodeling. Conclusion Left ventricular remodeling is more obvious in patients with acute myocardial infarction complicated with fQRS,and fQRS can predict left ventricular remodeling better.
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AIM To study the anti-inflammatory and analgesic activities of ethanol extract of Toddalia asiatica Lamn.and the mechanism.METHODS Both inflammatory rat model induced by carrageenan and pain model induced by formalin were applied to investigating the analgesic effect of extract of Toddalia asiatica Lam.ELISA kit was used to detect the contents of β-EP,5-HT and PGE2 in serum of carrageenan-treated rats,contents of TNF-αand IL-1β in skin tissue of inflammatory rats,and content of LTB4 in serum of formalin-treated rats;immunohistochemical method was used to observe the SP and FOS protein expressions in rat spinal cord.RESULTS The ethanol extract of Toddalia asiatica Lam.could significantly reduce the rate of toe swelling.In the formalin test,the ethanol extract of Toddalia asiatica Lam.reduced not only the total licking time,but also the content of PGE2,especially in the high dose group.And lowered serum 5-HT contents were observed in all the three dose groups,but a much better performance was found in both the high and low dose groups,and the high dose group's capability in increasing serum β-EP content was also noticed.TNF-α and IL-1β contents in skin tissue were reduced in various dose groups.Middle and high dose groups inhibited FOS protein expression.And the content of LTB4 in serum was obviously decreased in the high dose group.CONCLUSION The anti-inflammatory and analgesic activities of ethanol extract of Toddalia asiatica Lam.may associate with its power in increasing β-EP in serum,decreasing PGE2,5-HT,LTB4 contents,reducing TNF-α,IL-1β contents in skin tissue,and lowering SP and FOS protein expressions in spinal cord.
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The clinical manifestations,diagnosis and treatment process of the Gnathostoma infected patient were collected,and epidemiological investigation was carried out.The investigation results showed that the patients with eating wild boar in stomach nematode,the worms were removed by gastroscopy and examined by microscopy,small spines in the body,the spines of the posterior part and the posterior part of the body are thinner.The patient was confirmed cases of infection by Gnathostoma.
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Based on the modification of inlet of a proton transfer reaction time of flight mass spectrometry ( PTR-TOF-MS) instrument developed in our laboratory, a new method for real-time and on-line quantitation of volatile organic compounds ( VOCs) from human exhalation was established. A 28-day real-time and on-line monitoring of exhaled breath from 23 volunteers (11 male healthy subjects, 11 female healthy subjects and 1 stomach-sick patient) was carried out and the experimental results showed that the major potential VOCs markers were identified as formaldehyde, propylene, acetone, acetaldehyde, isopropanol and isoprene, and their concentrations obeyed the Normal Distribution. The concentrations of formaldehyde, propylene and isopropanol were mainly in the range of 40 to 100 ppb, acetaldehyde in the range of 80 to 180 ppb, acetone in the range of 500 to 1500 ppb, and isoprene in the range of 8 to 20 ppb. Meanwhile, the concentrations for some compounds were different for men and women. Men have higher level of acetone, and women have higher levels of acetaldehyde and isopropanol. In addition, the concentrations of formaldehyde and acetone in the exhaled breath of stomach sicknesses were significantly higher than that in healthy people. Ethanol and acetaldehyde were the main potential markers of exhale breath after drinking alcohol. The acetaldehyde was the major metabolite of ethanol, and the concentration of acetaldehyde changed with the concentration variation of ethanol in degradation process.
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Objective To preliminarily explore the clinical features,treatment,and outcomes of moyamoya disease in the elderly.Methods The clinical data of the elderly patients with moyamoya disease (aged > 60 years) admitted to the Department of Neurosurgery,the 307th Hospital of PLA from May 2007 to July 2016 were collected retrospectively.Their clinical features,imaging features,and surgical outcomes were analyzed.Results A total of 68 patients were enrolled,including 35 females (51.47%) and 33 males (48.53%).The ratio of male to female was 1:1.06.The age at the time of diagnosis of moyamoya disease was 62.82 ±3.08 years.Fifty-two patients (76.5%) had vascular risk factors.The most common clinical manifestation was cerebral ischemia (n =61,89.7%).Thirty of them (44.1%) presented as transient ischemic attack.The Suzuki staging of most patients was 4-6 (71.6%),12 patients (17.6%) complicated with posterior cerebral artery stenosis or occlusion.Thirty-one patients were treated with encephalo-duroarterio-synangiosis (EDAS).Among them,17 patients underwent bilateral surgery and 14 underwent unilateral surgery.The incidence of perioperative infarction or hemorrhage was 5.6% (2 patients developed cerebral infarction and 1 patient developed cerebral hemorrhage);37 patients received conservative treatment.During the follow-up period,5 patients developed cerebral infarction (1 in the surgical treatment group and 4 in the conservative treatment group);there was no significant difference between the 2 groups.There were no significant differences in age,sex,vascular risk factor,clinical symptoms,and preoperative modified Rankin Scale (mRS) scores between the 2 groups.Cerebral angiography was performed 6-9 months after operation in the surgical treatment group.A total of 24 cerebral hemispheres were evaluated by Matsushima typing,of which 17 (70.8%) were excellent.During the follow-up period,the proportion of patients with clinical outcome excellent (the mRS score was 0) (Z =-5.268,P < 0.00l) and clinical improvement (the mRS score was improved ≥ 1 compared to the baseline) (Z =-3.780,P < 0.001) were significantly higher than the conservative treatment group.Conclusions The clinical symptoms of old patients with moyamoya disease were mainly cerebral ischemia.Most of them had vascular risk factors,and the imaging manifestations showed higher Suzuki staging.The perioperative risk of EDAS in the old patients with moyamoya disease was lower.It might be an effective method to prevent clinical symptoms progress and improve the outcomes.
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Objective@#To investigate the incidence, molecular features and clinical significance of RNA splicing machinery genes mutation in myelodysplastic syndromes (MDS) and related diseases.@*Methods@#Mutational analysis of splicing factor 3B subunit 1 (SF3B1) (K700E) , U2 small nuclear RNA auxiliary factor 1 (U2AF1) (S34, Q157P) and serine/arginine-rich splicing factor 2 (SRSF2) (P95) in 118, de novo MDS and related diseases were separately performed by using polymerase chain reaction (PCR) followed by sequence analysis.@*Results@#Of 118 MDS patients, 76 males and 42 females, the median age was 53.5 (13-84) years old. 19.49% (23/118) had SF3B1 (K700E) mutation. As compared with those with wild type SF3B1, patients with SF3B1 K700E were of older[58 (32-78) years vs 51 (13-84) years, z=-1.981, P=0.048], lower HGB level[63 (40-95) g/L vs 77 (34-144) g/L, z=-3.192, P=0.001], higher platelet counts[121 (22-888) ×109/L vs 59 (6-1 561) ×109/L, z=-3.305, P=0.001], lower bone marrow blast cell counts[0.007 (0-0.122) vs 0.017 (0-0.268) , z=-2.885, P=0.004], higher ring sideroblasts percent [0 (0-64%) vs 0 (0-58%) , z=-4.664, P<0.001]. Of 105 MDS patients, 21.9% had U2AF1 (S34, Q157P) mutations. Of 107 MDS patients, 8 patients (7.48%) had SRSF2 (P95) mutations. Patients with SRSF2 mutations were older at diagnosis, the median age was 63 (50-84) years old, including 4 cases RAEB-1. The ratio of mutation was 14.29% (4/28) , and three patients transformed to AML. SF3B1 K700E and SRSF2 P95H mutations coexisted in 1 patient, and SF3B1 K700E and U2AF1 S34Y mutations were found concomitantly in 2 patients.@*Conclusion@#Only SF3B1 gene mutation was closely related to ring sideroblasts, it was the key to pathogenesis of MDS.
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Objective To preliminarily investigate the clinical features and efficacy of surgical treatment of moyamoya syndrome in patients w ith hyperthyroidism. Methods From December 2002 to April 2013, 41 patients w ith moyamoya syndrome based on the disease of hyperthyroidism admitted to the Department of Neurosurgery, the 307th Hospital of PLA w ere analyzed retrospectively. The clinical data w ere colected, including sex, age of onset, initial symptoms, progress symptoms, imaging features, Suzuki staging, and surgical efficacy, and they w ere compared w ith the clinical data of the patients w ith moyamoya disease treated at the same time. Results The ratio of male to female w as about 1∶4 in moyamoya syndrome patients w ith hyperthyroidism. The peak age of onset w as 25 to 34 years old. Compared w ith the patients w ith moyamoya disease at the same period, the proportion of patients w ith cerebral infarction as initial symptom w as higher in the moyamoya syndrome group ( 39.0% vs.24.2%; χ2 = 4.796, P =0.029), more patients had symptomatic progression (46.3% vs.25.4%; χ2 =9.207, P =0.002), and the proportion of of patients w ith cerebral hemorrhage as initial symptom w as low er ( 2.4% vs.14.6%; χ2 = 4.829, P =0.028). Thirty-seven patients w ho received encephalo -duro-arterio-synangiosis (EDAS) w ere folow ed up for 43 ± 19 months. The results show ed that the clinical symptoms of 31 patients had different degrees of improvement. Conclusions Moyamoya syndrome of hyperthyroidism is more common in w omen. The risk of cerebral infarction is higher and more prone to have disease progression. The efficacy of EDAS is better for controling the progression of moyamoya syndrome in patients w ith hyperthyroidism.
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Moyamoya disease is a chronic progressive cerebrovascular occlusive disease of unknow n etiology. Transcranial Doppler sonography (TCD) is a non -invasive ultrasonic examination that can detect the hemodynamic characteristics of intracranial large vessels. At present, there are more applications in screen, auxiliary diagnosis, and surgical outcome assessment in moyamoya disease. This article review s the current applications of TCD in moyamoya disease.
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Objective To investigated the application value in the efficacy evaluation of transcranial Doppler (TCD) in encephalo-duro-arterio-synangiosis (EDAS) for moyamoya disease. Methods The patients with moyamoya disease treated with EDAS conducted digital subtraction angiography (DSA) and TCD examinations before procedure and at 6 months after procedure respectively. The pulsatility index (PI), resistance index (RI) and mean flow velocity (MFV) before and after the superficial temporal artery surgery were measured respectively. The correlation between the TCD parameter variation rate and DSA efficacy grading was evaluated. Using the receiver operator characteristic (ROC) curve to calculate the optimal cut-off value of the TCD parameters for predicting the operation efficacy. Results A total of 46 patients with moyamoya disease were enroled, 40 patients were bilateral hemisphere involvement and 6 were unilateral involvement. A total of 86 hemispheres were treated with EDAS. According to the results of DSA reexaminations, the grades of efficacy were as folows: grade 0, 18 sides, grade 1, 37 sides, grade 2, 18 sides, and grade 3, 13 sides. When the DSA grade was 0, there were no significant differences in PI, RI and MFV before and after procedure, and there were significant differences in the postoperative change of other TCD parameters at al levels (al P < 0. 001). At 6 months after procedure, the change rates of PI, RI and MFV were - 30. 83% ± 21. 71% , - 19. 64% ± 14. 45% and 96. 08% ± 100. 76% , respectively, and they had good correlation with the results of DSA efficacy grading. Their Spearman correlation coefficients were- 0. 879, - 0. 891 and 0. 715, respectively (al P < 0. 001). ROC curve analysis showed that the best cutoff values of the TCD parameter change rates for predicting good operative effect were as folows: PI decrease rate, 36% (area under the curve, 0. 966; sensitivity, 0. 968, specificity, 0. 891; P < 0. 001), RI decrease rate, 27% (area under the curve, 0. 973; sensitivity, 0. 903, specificity, 0. 946; P < 0. 001), and MFV increase rate, 111% (area under the curve, 0. 879; sensitivity, 0. 742, specificity, 0. 927; P < 0. 001). Conclusions TCD can detect hemodynamic parameter changes of superficial temporal arteries after EDAS. It has higher application value in the long-term postoperative efficacy evaluation.
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<p><b>OBJECTIVE</b>To revalidate the conversion factor(CF)for the conversion of BCR-ABL (P210)transcript levels to the international scale(BCR- ABLIS)in chronic myeloid leukemia(CML) which validated before.</p><p><b>METHODS</b>Peking University People's Hospital(PKUPH)prepared the exchange samples for revalidation of CFs of 15 laboratories which validated nine or eighteen months ago. The fresh BCR-ABL(P210)(+)bone morrow or peripheral blood nucleated cells were diluted with BCR-ABL (P210)(-)cells to achieve different BCR- ABL levels, totally 16 sets and 24 samples per set were prepared. TRIzol reagent was added in each tube. Each laboratory tested BCR-ABL transcript levels of one set of samples. Agreement between BCR-ABLIS of each laboratory and PKUPH was assessed by the Bland- Altman method. For laboratories which did not meet the criteria of revalidation, linear regression equation was derived after the samples with maximum BCR-ABL deviation were removed until R²>0.98, then new CF was calculated.</p><p><b>RESULTS</b>10 laboratories met the revalidation criteria with both bias within ±1.4 fold and 95% limits of agreement within ±6 folds, and their CFs still could be used for accurately conversion of BCR-ABLIS. New CFs were recalculated as of 1.8-6.3 folds of their previous CFs in 5 laboratories not met the criteria.</p><p><b>CONCLUSION</b>Revalidation of CF by sample exchange among laboratories was necessary for accurate and continuous application of BCR-ABLIS, which not only tested the validity of CF acquired before but also calculated new available CFs for those with invalid CFs.</p>
Subject(s)
Humans , Bone Marrow Cells , Fusion Proteins, bcr-abl , Genetics , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Diagnosis , GeneticsABSTRACT
Objective Toinvestigatetheclinicalfeaturesandsurgicalprognosisofmoyamoya syndromeinchildren.Methods Theclinicaldataof12childrenwithmoyamoyasyndromeadmittedto the 307th Hospital of People′s Liberation Army from December 2002 to October 2013 were analyzed retrospectively. Eleven of them underwent encephalo-duro-arterio-synangiosis (EDAS). A total of 550 children with moyamoya disease in the same period were used as a control group. The clinical characteristics and surgical efficacy of the children with moyamoya syndrome were summarized and concluded by comparing the clinical data of the two groups,including sex,age of onset,initial symptom,progress symptoms, Suzukiinstallments,imagingfeatures,andsurgicalefficacy.Results Themaleandfemaleratioof the children with moyamoya syndrome was 1∶2. Their mean age of onset was 12 ± 5 years old. There were significant differences in the initial symptom (cerebral infarction and cerebral hemorrhage )and disease progress between the children with moyamoya syndrome group and the control group (5/12 vs. 14. 5%[80/550], 3/12 vs. 61. 8%[340/550],and 5/12 vs. 8.7%[48/550],respectively;all P<0. 05). Within the follow-up period,of the 11 children underwent EDAS,7 cases had no further attack,and 4 cases were improved significantly. There was significant difference in the modified Rankin scale (mRS)between the beforeandaftersurgery(0[0,1]vs.2[1,2];P<0.05).Conclusions Theclinicalfeaturesofthe children with moyamoya syndrome have some differences with those with moyamoya disease. Timely and effective EDAS treatment may effectively prevent disease progression and improve the prognosis of patients.