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Macrophage migration inhibitory factor (MIF), a type of pleiotropic immunoregulatory cytokine with a specific structure, participates in the regulation of host cell growth and migration and immune responses. Following parasitic infections, hosts may produce MIF and then participate in the parasite-host interactions. In addition, parasites may secrete parasite-derived MIF, and they jointly participate in parasite-host interactions. This paper reviews the regulation of MIF gene expression following parasitic infections, the role of MIF in parasite-host immune system interactions, and important signaling pathways of MIF-mediated immune responses.
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Macrophage migration inhibitory factor (MIF), a type of pleiotropic immunoregulatory cytokine with a specific structure, participates in the regulation of host cell growth and migration and immune responses. Following parasitic infections, hosts may produce MIF and then participate in the parasite-host interactions. In addition, parasites may secrete parasite-derived MIF, and they jointly participate in parasite-host interactions. This paper reviews the regulation of MIF gene expression following parasitic infections, the role of MIF in parasite-host immune system interactions, and important signaling pathways of MIF-mediated immune responses.
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Objective@#To study the effects of serum and its components on biofilm formation of Pseudomonas aeruginosa. @*Methods@#96 well microplates combined with crystal violet staining was used to detect the effects of serum, albumin and transferrin on biofilm formation of Pseudomonas aeruginosa. And confocal laser scanning microscope was used to observe the morphology of the biofilm. @*Results@#The biofilm of PAO1 was significantly enhanced from 2.26±0.42 to 3.42±0.08（t=4.71, p<0.01）with horse serum and but reduced to 0.807±0.10（t=4.71,p<0.01） by human serum; And the total biofilm biomass was significantly increased and clump-changed with horse serum, but decreased and scattered in distribution by human serum. Besides, horse serum could also enhance the biofilm formation of part of the clinical isolates of Pseudomonas aeruginosa, however, human serum could inhibit the biofilm formation of all of the clinical isolates. And 2.5g/L albumin could significantly enhance the biofilm of PAO1 from 1.96±0.22 to 2.54±0.18（t=3.55，p<0.05）, but 5 g/L could reduce the biofilm of PAO1 from 1.85±0.36 to 0.84±0.24（t=4.03，p<0.05）.@*Conclusion@#Horse serum and albumin could significantly promote the biofilm formation of Pseudomonas aeruginosa, but human serum and transferrin could decrease its biofilm formation.
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OBJECTIVE: To introduce the formation background, development course and common service items of foreign pharmacist-managed clinic, deepen our understanding of its development satus, and provide us a reference of hospital pharmacy development and pharmacist-managed clinic build. METHODS: We search key words"pharmacist-managed clinic"and "medication therapy management" in database PubMed, CNKI and WANFANG DATA, then find out and read relevant research literatures published in recent 20 years. Browse the medical forum and website for related reports of pharmacist-managed clinic. Sum up the relevant clinical research cases, analyze and evaluate the effect of pharmacist-managed clinic. RESULTS AND CONCLUSION: We can conclude that the development of pharmacist-managed clinic can improve the compliance of patients with medication, reduce the incidence of drug-related diseases and hospitalization rates due to drug interactions and adverse reactions under the premise of ensuring the efficacy of drugs, while reducing medical expenses and promoting the rational allocation of medical resources, which is of great significance to the development of hospital medicine and the improvement of national health.
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<p><b>OBJECTIVE</b>To assess the value of chitinase 3-like 1 (CHI3L1) alone or in combination with other biomarkers in the diagnosis of pancreatic cancer.</p><p><b>METHODS</b>Serum samples were collected from 70 patients with pancreatic cancer and 31 healthy subjects and the levels of CHI3L1, CA199, C3, C4, high-density lipoprotein cholesterol (HDL-C), and low-density lipoprotein-cholesterol (LDL-C) in serum were detected.</p><p><b>RESULTS</b>The serum samples from pancreatic cancer patients showed significantly higher CHI3L1, CA199, C3, C4, HDL-C, and LDL-C levels than those from healthy subjects (P<0.05). In patients with pancreatic cancer, serum CHI3L1 level was significantly correlated with the administration of anti-cancer therapy (P<0.05), but not with gender, age, metastasis or other clinicopathological parameters (P<0.05). ROC curve analysis showed that serum CHI3L1, CA199, C3, C4, HDL-C, and LDL-C all had diagnostic value for pancreatic cancer. Multivariate analysis suggested that the combined detection model of CHI3L1, CA199, C3, and HDL-C (AUC=0.964) had a greater diagnostic value than CA199 (AUC=0.896) alone and the combined detection model consisting of CA199, C3, and HDL-C (AUC=0.923; P<0.05).</p><p><b>CONCLUSION</b>Serum levels of CHI3L1, CA199, C3, C4, HDL-C, and LDL-C all have diagnostic value for pancreatic cancer, and the combined model consisting of CHI3L1, CA199, C3, and HDL-C have greater diagnostic efficacy than the other biomarkers either alone or in combination.</p>
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Objective To investigate the depression status and quality of life (QoL) of patients with severe obesity who have undergone bariatric surgery and to evaluate their potential correlation.Methods A total of 50 patients with severe obesity who had undergone elective bariatric surgery in the general surgical ward of Peking Union Medical College from January 2013 to December 2017 were enrolled in this study. The general data were collected. The patient's depression status and QoL were assessed by the Zung's Depression Self-Assessment Scale and the SF-36 Quality of Life Scale,respectively.Results The depression score was (44.85±9.07) scores in these 50 patients,including 38 patients (76%) without depression and 12 (24%) with mild depression. The scores of the mental-emotional,physical,psychomotor,and psychological barrier dimensions of patients with severe obesity were (3.70±1.25),(18.65±4.10),(4.25±1.35),and (18.75±5.46)scores,respectively. The physiological function score of patients with mild depression was (95.83±10.21)scores,which was significantly higher than those without depression (68.42±38.95) scores(F=6.209,P=0.011). The vitality and mental health scores were (46.67±14.72) and (57.33±14.68) scores in patients with mild depression,which were significantly lower than those [(65.79±21.94) (F=4.867,P=0.030) and (75.16±17.21) scores (F=0.212,P=0.032)] in patients without depression. Correlation analysis showed that the mental-emotional score was positively correlated with physical score in patients with severe obesity (r=0.503,P=0.015),whereas the depression score was negatively correlated with the general health status (r=-0.430,P=0.032),vitality (r=-0.594,P=0.002),social functioning (r=-0.455,P=0.022),mental health (r=-0.562,P=0.003),and QoL score (r=-0.439,P=0.028).Conclusions The QoL is remarkably affected by depression in patients with severe obesity before surgery. Assessment of the mental status of patients with severe obesity may help to identify this problem and thus improve the QoL.
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<p><b>OBJECTIVE</b>To systematically collect the thrombelastography (TEG)-or thromboelastometry (ROTEM)-related data, and predict to evaluate their values for the prediction of thromboembolic events.</p><p><b>METHODS</b>Databases including PubMed, Central and Embase were searched for the related clinical trials, and the references were retrieved manually; these included references were assessed qualitatively by the QUADAS-2 tool; finally the enrolled researches were qualitatively analyzed.</p><p><b>RESULTS</b>A total of 15 studies consisting of 293 VTE patients met the inclusion criteria. The overall quality and the accuracy of TEG or ROTEM in predicting VTE varied a lot. Two thirds of the studies displayed that the changes of TEG parameters or ROTEM were related to the occurrence of VTE.</p><p><b>CONCLUSION</b>The present studies showed that the TEG or ROTEM for predicting the VTE display higher difference in accuracy, therefore, the combination of TEG or ROTEM with other laboratory tests may improve the accuracy of VTE diagnosis.</p>
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<p><b>OBJECTIVE</b>To observe the clinical effects of acupuncture method of "Huoxue Sanfeng, Shugan Jianpi" (activating blood and eliminating wind, soothing liver and strengthening spleen) on morning blood pressure in patients with cerebral infraction combined with essential hypertension.</p><p><b>METHODS</b>Sixty-eight patients were randomly divided into an observation group and a control group, 34 cases in each one. The patients in the two groups were treated with acupuncture method of "Xingnao Kaiqiao" (consciousness-restoring resuscitation) and oral administration of nifedipine. In addition, patients in the observation group were treated with acupuncture method of "Huoxue Sanfeng, Shugan Jianpi" that met the criteria of standard manipulation, in which bilateral Renying (ST 9), Quchi (LI 11), Hegu (LI 4), Zusanli (ST 36) and Taichong (LR 3) were selected. The treatment was given once a day, five times a week, for totally six weeks. The improvement and control rate of morning blood pressure in the two groups were observed.</p><p><b>RESULTS</b>(1) After treatment, the morning blood pressures were decreased significantly in the two groups (all P < 0.05); after 15 treatments, the reduction of systolic pressure and diastolic pressure in the observation group was superior to that in the control group, but the difference was not significant (both P > 0.05); after 30 treatments, the reduction of systolic pressure and diastolic pressure in the observation group was significantly superior to that in the control group (both P < 0.05). (2) After 30 treatments, the control rate of morning blood pressure in the observation group was significantly higher than that in the control group [82.4% (28/34) vs 58.8% (20/34), P < 0.05].</p><p><b>CONCLUSION</b>Acupuncture method of "Huoxue Sanfeng, Shugan Jianpi", characterized with standard manipulation criteria, can effectively control morning blood pressure in patients with cerebral infraction combined with essential hypertension.</p>
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Acupuncture Points , Acupuncture Therapy , Blood Pressure , Cerebral Infarction , Therapeutics , Essential Hypertension , Hypertension , Therapeutics , Liver , Spleen , Treatment OutcomeABSTRACT
The low-risk mild hypertension constitutes a considerable proportion in hypertension. Through searching CNKI, Wanfang database, VIP database and PubMed database, literature during the last 10 years was collected and reviewed. It was indicated that excessive diagnosis, insufficient evidence of drug treatment, and poor drug adherence existed in low-risk mild hypertension, however, acupuncture at Renying (ST 9) and other therapies had remarkable effects. This paper mainly expounded the diagnosis and treatment status of low-risk mild hypertension as well as the research summary of acupuncture for low-risk mild hypertension.
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Humans , Acupuncture Points , Acupuncture Therapy , Hypertension , Therapeutics , PubMedABSTRACT
Mycotic vaginitis is a common and frequently-occurring gynaecopathia and easy to attack repeatedly, so painful to patients. In this study, the authors observed the clinical efficacy of Sophora gel combined with Fluconazole capsules in treating mycotic vaginitis, in order to seek an effective method for treating mycotic vaginitis. Totally 85 patients with mycotic vaginitis treated in our hospital between December 2012 and July 2014 were randomly divided into the treatment group (43 patients) and the control group (42 patients). The treatment group was given vaginally Sophora gel (one piece every night for 14 days) and orally Fluconazole capsules (150 mg, once every three days, four times in total); The control group was only administered with Fluconazole capsules. The total efficacy, cure rate, recurrence rate and clinical symptom improvements of the two groups were observed. The results show that the total efficacy, the cure rate and the recurrence rate of the treatment group vs. the control group were respectively 97.7%, 90.7% and 2.6% vs. 83.3%, 71.4% and 20.0%, with statistical significance in their differences (P < 0.05). The treatment group showed reduced leucorrhea, pruritus vulvae disappearance and earlier mucosal hyperemia disappearance than the control group, with statistical significance in their differences (P < 0.05). In conclusion Sophora gel combined with Fluconazole capsules can improve antifungal activity of drugs, relieve clinical symptoms, shorten the course of disease, enhance the cure rate and reduce the recurrence rate; So this therapy can be widely applied in clinic.
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Adult , Female , Humans , Young Adult , Antifungal Agents , Capsules , Drug Therapy, Combination , Drugs, Chinese Herbal , Fluconazole , Mycoses , Drug Therapy , Sophora , Chemistry , Treatment Outcome , Vaginitis , Drug TherapyABSTRACT
Acupuncture therapy for regaining consciousness activates soreness, numbness, distention, heaviness, radiating and moving, electric shock and ant climbing sensations at the specific acupoints in the stroke patients. Radiating and moving sensations are the summary of needling sensations such as soreness, numbness and twitching presenting during lifting and thrusting manipulation. These sensations are the essential factors of the therapeutic effect of regaining consciousness. Radiating sensation refers to the conduction along meridians and radiation of soreness and numbness. Moving sensation refers to the local muscular twitching at acupoints and the involuntary movement of limbs, joints and the distal. Acupuncture at the specific acupoints achieves radiating and moving sensations for promoting the circulation in meridians, regulating qi and mind and balancing yin and yang in stroke patients. This therapy was introduced in the paper in view of acupoint location, needle insertion and manipulation.
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Humans , Acupuncture Points , Acupuncture Therapy , Methods , Consciousness , Meridians , Needles , Stroke , Psychology , TherapeuticsABSTRACT
To establish the parsimonious model for blood glucose monitoring in patients with type 2 diabetes receiving oral hypoglycemic agent treatment. One hundred and fifty-nine adult Chinese type 2 diabetes patients were randomized to receive rapid-acting or sustained-release gliclazide therapy for 12 weeks. Their blood glucose levels were measured at 10 time points in a 24 h period before and after treatment, and the 24 h mean blood glucose levels were measured. Contribution of blood glucose levels to the mean blood glucose level and HbA1c was assessed by multiple regression analysis. The correlation coefficients of blood glucose level measured at 10 time points to the daily MBG were 0.58-0.74 and 0.59-0.79, respectively, before and after treatment (P<0.0001). The multiple stepwise regression analysis showed that the blood glucose levels measured at 6 of the 10 time points could explain 95% and 97% of the changes in MBG before and after treatment. The three blood glucose levels, which were measured at fasting, 2 h after breakfast and before dinner, of the 10 time points could explain 84% and 86% of the changes in MBG before and after treatment, but could only explain 36% and 26% of the changes in HbA1c before and after treatment, and they had a poorer correlation with the HbA1c than with the 24 h MBG. The blood glucose levels measured at fasting, 2 h after breakfast and before dinner truly reflected the change 24 h blood glucose level, suggesting that they are appropriate for the self-monitoring of blood glucose levels in diabetes patients receiving oral anti-diabetes therapy.
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Adult , Female , Humans , Male , Blood Glucose , Blood Glucose Self-Monitoring , Methods , Diabetes Mellitus, Type 2 , Blood , Drug Therapy , Gliclazide , Therapeutic Uses , Glycated Hemoglobin , Metabolism , Hypoglycemia , Hypoglycemic Agents , Therapeutic Uses , Models, BiologicalABSTRACT
<p><b>OBJECTIVE</b>To investigate the characteristics of phase II metabolic enzymes in mouse embryonic stem (ES) cell-derived liver tissue.</p><p><b>METHODS</b>Mature hepatocytes were differentiated from embryonic stem cells in cultured mouse embryoid bodies (EB) at d18. Western blot was used to detect the expression of uridine 5'-diphosphate glucronosyl transferase (UGT1a1,UGT1a6) and microsomal glutathione S-transferases 1(mGST1) during the differentiation course.The derived liver tissue was incubated with UDPGA and 7-HFC,the formation of 7-HFC glucuronide was detected by HPLC to examine the total activities of UGT1a1 and UGT1a6. Furthermore, the microsomes were incubated with CDNB and GSH,and the mGST1 activity was measured by spectrometry.</p><p><b>RESULTS</b>An increase tendency of UGT1a1 expression was noticed during the differentiation course. UGT1a6 and mGST1 were not detected in the earlier stage until d18 of differentiation. The metabolic activity of mGST1 in the derived hepatocytes was 7.65 nmol/min/mg on d18.</p><p><b>CONCLUSION</b>The ES cell-derived liver tissue possesses partial metabolic function of phase II enzymes on d18 of differentiation,which might be used as a model for in vitro research on hepatic pathophysiology and phase II drug metabolism.</p>
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Animals , Mice , Cell Differentiation , Embryoid Bodies , Cell Biology , Embryonic Stem Cells , Cell Biology , Glucuronosyltransferase , Physiology , Glutathione Transferase , Physiology , Hepatocytes , Cell BiologyABSTRACT
<p><b>OBJECTIVE</b>To review the current advances on the role of uncoupling protein (UCP) in the pathogenesis and progress of nonalcoholic fatty liver disease (NAFLD).</p><p><b>DATA SOURCES</b>A comprehensive search of the PubMed literature without restriction on the publication date was carried out using keywords such as UCP and NAFLD.</p><p><b>STUDY SELECTION</b>Articles containing information related to NAFLD and UCP were selected and carefully analyzed.</p><p><b>RESULTS</b>The typical concepts, up-to-date findings, and existing controversies of UCP2 in NAFLD were summarized. Besides, the effect of a novel subtype of UCP (hepatocellular down regulated mitochondrial carrier protein, HDMCP) in NAFLD was also analyzed. Finally, the concept that any mitochondrial inner membrane carrier protein may have, more or less, the uncoupling ability was reinforced.</p><p><b>CONCLUSIONS</b>Considering the importance of NAFLD in clinics and UCP in energy metabolism, we believe that this review may raise research enthusiasm on the effect of UCP in NAFLD and provide a novel mechanism and therapeutic target for NAFLD.</p>
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Animals , Humans , Fatty Acids, Nonesterified , Metabolism , Fatty Liver , Metabolism , Ion Channels , Physiology , Mitochondrial Proteins , Chemistry , Physiology , Non-alcoholic Fatty Liver Disease , Uncoupling Protein 2ABSTRACT
<p><b>OBJECTIVE</b>To analyze the community in dental plaque of elder people with root caries.</p><p><b>METHODS</b>Total DNAs were extracted from the root caries dental plaques of nine elders over 60 years of age. Polymerase chaid reaction-based denaturing gradient gel electrophoresis (PCR-DGGE) was used to analyze the microbial composition, DGGE bands were excised from the gels for sequencing and identification.</p><p><b>RESULTS</b>The dominant genus in root caries dental plaque of elder people were: Acinetobacte [0.9% (1/114)], Actinobaculum [1.8% (2/114)], Actinomyces [15.8% (18/114)], Aggregatibacter [0.9% (1/114)], Capnocytophaga [14.0% (16/114)], Corynebacterium [0.9% (1/114)], Haemophilus [0.9% (1/114)], Mobiluncus [0.9% (1/114)], Naxibacter [0.9% (1/114)], Neisseriaceae [10.5% (12/114)], Porphyromonas [0.9% (1/114)], Prevotella [12.3% (14/114)], Selenomonas [6.1% (7/114)], Staphylococcus [1.8% (2/114)], Oralis streptococcus [6.1% (7/114)], Mutans streptococcu [7.9% (9/114)], Tannerella [0.9% (1/114)], Treponema [1.8% (2/114)], Veillonella [10.5% (12/114)] and two uncultured unknown genus [1.8% (2/114)]. Uncultred genotypes accounted for 19.30% of the total. Gram-positive bacteria genotype accounted for 31.6% (36/114), and Gram-negative bacteria genotype accounted for 66.7% (76/114).</p><p><b>CONCLUSIONS</b>There were many bacteria genotypes in root caries dental plaque in the elderly, which were widely distributed. Gram-negative bacteria accounted for the majority. Genotype-specific pathogenic bacteria were not found.</p>
Subject(s)
Aged , Humans , Middle Aged , Age Factors , Capnocytophaga , Genetics , DNA, Bacterial , Genetics , Denaturing Gradient Gel Electrophoresis , Dental Plaque , Microbiology , Genotype , Gram-Negative Bacteria , Genetics , Gram-Positive Bacteria , Genetics , Neisseriaceae , Genetics , Prevotella , Genetics , Root Caries , Microbiology , Selenomonas , Genetics , Streptococcus mutans , Genetics , Streptococcus oralis , Genetics , Veillonella , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To establish an early-warning indicator system on outbreak of hemorrhagic fever with renal syndrome by Delphi method seeking expert advices.</p><p><b>METHODS</b>Firstly, the literature review and the experts meeting method were used to formulate the initiator frame work and indicators. A two-round consultation was used to filter indicators, discuss the boundary of indicators and determine the weighting coefficient among 25 experts from 14 provinces, municipalities and autonomous regions. The relative weightiless of indicators was determined by the weight coefficients method.</p><p><b>RESULTS</b>The experts' average length of service in prevention and control of hemorrhagic fever with renal syndrome was (23.80 ± 11.70) years. The positivity coefficients of the two-round experts were 100% and 72%. Kendall's coefficients of the two-round consultation were 0.50 (χ(2)(R) = 148.95, P < 0.01) and 0.54 (χ(2)(R) = 212.63, P < 0.01) and opinions among experts became consistent and the consultation had achieved the need of forecast. Four first-class indicators (host animals, risk population, social environment and case-related indicators) and 14 second-class indicators were filtered to develop the indicators system. The weight coefficients of the first-class indicators were 0.28, 0.23, 0.23 and 0.26.</p><p><b>CONCLUSION</b>The early-warning index system of hemorrhagic fever with renal syndrome has been established and it could provide a reference for the forest and warning of HFRS outbreak.</p>
Subject(s)
Animals , Humans , Disease Notification , Disease Outbreaks , Early Diagnosis , Hemorrhagic Fever with Renal Syndrome , EpidemiologyABSTRACT
Objective To develop an early-warning indicator system of brucellosis outbreak. Methods The methods of literature review and expert discussion were used to formulate the initiatory framework and indicators, and then Delphi method was used to filter indicators, discuss the boundary of indicators and determine the weighting coefficient. Results The average length of service provided by experts who engaged in prevention and control of brucellosis was (25.10 ± 8.80) years and the positive coefficient of the consultant experts of the two-round results were 95% and 68%, respectively. Kendall coefficients were 0.35, 0.54 and X2R value were 81.31 and 285.27, respectively and P value was all less than 0.01. Five first-level indicators(the host animal, high-risk groups,social environment, index case and the level of previous disease) and 13 secondary indicators were selected to develop the early-warning indicator system of brucellosis outbreak. The weight coefficients of the five first-level indicators were 0.21, 0.22, 0.17, 0.21 and 0.19, respectively. Conclusions The early-waming indicator system of brucellosis outbreak is initially established. We propose to develop the early-warning programs according to local conditions and the indicator system.
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The aim of this study is to investigate the critical factor affecting the properties of PLGA microspheres fabricated by a solid-in-oil-in-water (S/O/W) emulsion technique with BSA as a model protein. Prior to encapsulation, the BSA microparticles were fabricated by a modified freezing-induced phase separation method. The microparticles were subsequently encapsulated into PLGA microspheres by S/O/W emulsion method, then Motic BA200 biological microscope, confocal laser scanning microscope, scanning electron microscope were used to observe the structure of S/O/W emulsion and PLGA microspheres. The protein content extracted or released from BSA microspheres was measured by Bradford protein assay method. It was found that NaCl added in the outer aqueous phase effectively suppressed material exchange between the inner and outer phase of S/O/W emulsion. Then, the structure and permeability of obtained microspheres were influenced. As a result, with the increase of NaCl concentration in the outer aqueous phase, the encapsulation efficiency of microspheres significantly increased from 60% to more than 85%, the burst release of microspheres reduced from 70% to 20%, and the particle size decreased from 103 microm to 62 microm. Furthermore, the rehydration of encapsulated protein was also retarded and then integrity of BSA was successfully protected during encapsulation process. In vitro release test showed that BSA released from PLGA microspheres in a sustained manner for more than 30 days.
Subject(s)
Delayed-Action Preparations , Drug Compounding , Emulsions , Chemistry , Lactic Acid , Chemistry , Microscopy, Confocal , Microscopy, Electron, Scanning , Microspheres , Oils , Particle Size , Polyglycolic Acid , Chemistry , Serum Albumin, Bovine , Chemistry , Sodium Chloride , Chemistry , WaterABSTRACT
<p><b>OBJECTIVE</b>To report a case of acute myeloid leukemia (AML) with the insertion (8;21)(q22;q22.1q22.3). A 33-year-old Chinese woman was referred to our hospital. Hematologic data showed WBC 42.7 x 10(9)/L with monocytosis (monocyte counts 7.296 x 10(9)/L). Bone marrow aspirate was hypercellular with 4.5% monoblasts and 7.5% promonocytes. At first she was diagnosed with chronic myelomonocytic leukemia (CMML) according to the FAB criteria. Initially the patient received supportive care only, but her general condition rapidly became worse three months later. The monoblasts and promonocytes in the bone marrow rose to 20.5%. After two cycles of combined chemotherapy she obtained complete remission.</p><p><b>METHODS</b>Chromosome specimens were prepared by short-term culture of bone marrow cells. Karyotype analysis was carried out by R-banding technique. Three fluorescence in situ hybridization (FISH) analyses were performed using AML1-ETO dual color, dual fusion probe, whole chromosome painting 8 and 21 probes, and cen-8 and Tel 21qter probes, respectively. Reverse transcription polymerase chain reaction (RT-PCR) assay for detecting the AML1-ETO fusion transcript was also performed.</p><p><b>RESULTS</b>Conventional cytogenetic analysis showed a karyotype of 46,XX,ins(8;21) (q22;q22.1q22.3)[7]/46,XX[3]. FISH tests confirmed the insertion. RT-PCR analysis detected the AML1-ETO fusion transcript.</p><p><b>CONCLUSION</b>We consider that this patient should be rediagnosed as acute myeloid leukemia according to the criteria proposed by World Health Organization (WHO) and that FISH and RT-PCR play an important role in verification of the ins(8;21).</p>
Subject(s)
Female , Humans , Chromosome Banding , Chromosomes, Human, Pair 15 , Chromosomes, Human, Pair 19 , Chromosomes, Human, Pair 8 , Core Binding Factor Alpha 2 Subunit , Genetics , In Situ Hybridization, Fluorescence , Methods , Karyotyping , Leukemia, Myeloid , Genetics , Translocation, GeneticABSTRACT
<p><b>OBJECTIVE</b>To refine the extent of a 7q36 duplication in a Chinese family with triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV using the Affymetrix SNP Array combined with quantitative real-time PCR (qPCR).</p><p><b>METHODS</b>Genomic DNA was extracted and genotyped with the Affymetrix Genome-Wide Human SNP Array 6.0. Copy number analysis was performed on the raw data using the Affymetrix Genotyping Console 3.0. The qPCR assay was carried out using the DeltaDeltaCT method to validate the duplication.</p><p><b>RESULTS</b>With use of the combined approach, we were able to narrow down the breakpoint intervals from 113 kb and 33 kb to 5.4 kb and 1.8 kb, respectively. These allowed us to refine the extent of the 7q36 duplication from 291-437 kb to 379-387 kb.</p><p><b>CONCLUSION</b>Screening with the Affymetrix Genome-Wide Human SNP Array 6.0 followed by the validation using qPCR is a reliable approach for high-resolution detection of copy number mutations.</p>