Damage mechanism of neurovascular unit in cerebral small vessel disease / 国际脑血管病杂志

Cerebral small vessel disease (CSVD) is a common and slowly progressive cerebrovascular disease. Its pathological mechanism involves vascular endothelial dysfunction, blood-brain barrier destruction, neuronal apoptosis, glial cell activation, and inflammatory reaction. Neurovascular unit is the basic unit of brain structure and function, and its pathological changes are closely associated with many cerebrovascular diseases. At present, the damage mechanism of neurovascular unit in CSVD has been paid more and more attention. This article reviews the damage mechanism of neurovascular unit in CSVD.

The changes of left cardiac structure and function in patients with hepatolenticular degeneration / 中华神经科杂志

Objective To investigate the changes of cardiac structure and function in patients with hepatolenticular degeneration (HLD).Methods From March 2010 to February 2011,90 HLD patients who did not receive formal treatment (observation group) and 30 healthy people (control group) were collected and analyzed with color Doppler echocardiography in the Institute of Neurology,Affiliated Hospital of Anhui University of Traditional Chinese Medicine.Based on the clinical manifestations,cases were divided into hepatic type group (n =31),brain type group (n =42) and brain-visceral type group (n =17).According to the Child-Pugh classification,patients were divided into Child A group (n =71),Child B group (n =10) and Child C group (n =9).Results (1) The left atrial diameter ((28.00 ± 3.11),(29.62 ± 3.44) mm) and left ventricular diameter ((45.69 ± 3.75),(47.10-± 4.73) mm) of HLD patients in brain-visceral type group and hepatic type group were larger than that of the control group ((24.86 ± 2.63),(41.93 ±3.56) mm;t =3.143,4.761,P=0.018,0.000;t=3.764,5.167,P=0.018,0.000).The left atrial diameter and left ventricular diameter of hepatic type group were significantly larger than the brain type group (26.06 ± 3.68,43.34 ± 3.88;t =3.557,P =0.000;t =3.751,P =0.001).The value of E/A in the hepatic type group (1.57 ± 0.37) was significantly lower than the control group (1.93 ± 0.20;t =-0.352,P =0.006).(2) The left atrial diameter ((31.29 ± 1.70),(34.67 ± 1.97) mm) and left ventricular diameter ((48.29 ± 2.81),(53.67 ± 2.67) mm) of Child B and C groups were significantly larger than the control group ((24.86 ± 2.63),(41.93 ± 3.56) rm;t =6.429,9.810,P =0.000,0.000;t =6.357,10.738,P =0.000,0.000),and the Child A group ((26.42 ± 3.05),(43.89 ± 3.76) rm;t=4.871,8.252,P=0.000,0.000;t =4.399,8.780,P=0.003,0.000).The value of E/A of Child B and C groups (1.58 ± 0.32,1.26 ± 0.39) was lower than that of the control group (t =-0.347,0.662,P=0.020,0.000);At the same time,the value of E/A of Child C group was significantly lower than that of Child A group (1.80 ± 0.33;t =-0.530,P =0.000).Conclusions The HLD patients may have cardiac structural and functional changes,mainly manifested as left atrial and left ventricular enlargement and cardiac diastolic dysfunction,whereas a serious impact has not yet been found in systolic function.And the changes of cardiac structure and function were related to the degree of liver cirrhosis in patients with HLD.

Therapeutic Observation of Acupuncture plus Speech Training and Psychological Intervention for Dysarthria in Hepatolenticular Degeneration / 上海针灸杂志

ObjectiveTo verify the therapeutic efficacy of acupuncture plus speech training and psychological intervention in treating dysarthria in hepatolenticular degeneration (Wilson’s disease).MethodSixty patients were randomized into a control group, a treatment group, and a combined group, 20 in each group. The three groups all received conventional treatments including removal of copper, liver protection, and brain protection, based on which, the control group also received speech training, the treatment group received acupuncture based on the treatments given to the control group, and the combined group received psychological intervention based on the treatments given to the treatment group.ResultAfter 2-month treatment, in comparing the Frenchay Dysarthria Assessment, the combined group showed a more significant improvement than the treatment group and control group (P<0.05); the total effective rate was 75% in the combined group, versus 25% in the treatment group and 10% in the control group, and the total effective rate of the combined group was significantly higher than that of both treatment group and control group (P<0.05).ConclusionAcupuncture plus speech training and psychological intervention can markedly improve the dysarthria symptoms of patients with Wilson’s disease, and recover their speech function and help them to go back to society.

Effect of Vitamin E for Preventing the Contrast Induced-nephropathy in Patients With Coronary Artery Disease After Percutaneous Coronary Intervention / 中国循环杂志

Objective: To study the protective effect of vitamin E in preventing contrast-induced nephropathy (CIN) in patient with coronary artery disease (CAD) after percutaneous coronary intervention (PCI). Methods: We prospectively studied 206 CAD patients with elective PCI in our hospital and divided them in 2 groups: Treatment group, the patients received oral vitamin E combining vinous hydration,n=102 and Control group, the patients received vinous hydration only,n=104. CIN was deifned by at 48h after contrast media injection, serum cretinin increased up to 25% from the baseline, or reached 44.2 μmol/L. Excluding the other kidney injury factors, the renal functions at 48 h before and after PCI were compared, the occurrence rate of CIN were also compared between 2 groups. Results:①Overall, there were 19/206 (9.22%) patients suffered from CIN, the occurrence rate in Treatment group (4.90%) was lower than Control group (13.46%), χ2=4.506,P=0.034. For patients with hypertension, diabetes, chronic kidney disease, anemia and mehran risk score10 (OR= 4.461, 95% CI 1.589-14.724) were the independent risk factors for CIN occurrence, allP Conclusion: Short-term application of vitamin E may reduce the risk of CIN occurrence at certain degree in CAD patients after PCI.

Impairment memory monitoring in patients with Wilson's disease / 中华行为医学与脑科学杂志

Objective To investigate the memory monitoring ability in patients with hepatolenticular degeneration(HLD) and explore the mechanism of their memory impairment.Methods The feeling-of-knowing (FOK) paradigm of episodic memory(EM) and semantic memory(SM)were established and subsequently applied to 30 HLD patients and 30 healthy control(HC) participants who were matched in age and educational level.Results Compared with healthy control group (FOK-EM recall (64.17 ± 29.21) ％ ; FOK-SM recall (84.72 ± 11.44)％),the FOK-EM recall((26.55±20.92)％) and FOK-SM recall((53.93±28.42)％) in HLD patients were significantly lower(t=-5.140,P＜0.01 ; t=-5.123,P＜0.01).The positive judgment and correct recognition of FOK-EM ((50.64±29.43) ％) and the negative judgment and correct recognition of FOK-EM((12.80± 18.32) ％) in the HLD group were significantly different from the HC group (the positive judgment and correct recognition of FOK-EM:(75.15±31.73)％ and the false judgment and correct recognition of FOK-EM:(1.81±5.41)％; t=-2.693,P＜0.05 ; t=3.026,P＜0.01).Most importantly,the stroop effect was positively correlated with the negative judgment and correct recognition of FOK-EM in HLD group(r=0.601,P＜0.01).Conclusion The results show that the HLD group underestimate their memory performance on episodic FOK,and the impairment of memory monitoring is positively correlated with the deficit of executive function,indicating that the prefrontal impairment can be an influential factor of memory disorder in HLD,whereas the unimpaired semantic metamemory FOK indicates the episodic and semantic metamemory monitoring may depend on different neural network.

Real-time quantitative PCR monitoring of minimal residual disease in CML after treatment / 白血病·淋巴瘤

Objective To set up a real-time quantitative PCR approach for detection and quantification for bcr-abl transcripts in CML patients,and detect minimal residual disease (MRD) in CML by real-time quantitative PCR (RQ-PCR)and evaluate the significance of MRD detection.Methods The ber-abl.fusion gene expression in 80 patients with CML was analyzed by RQ-PCR. The patients were divided into three groups according to the different treatment, allogeneic hematopoietic stem cell transplantation group,imatinib group and hydroxyurea group. The change of bcr-abl fusion gene was monitored in CML patients before and after treatment.Results The average of RQ-PCR detection on newly diagnosed patients with CML in chronic phase was 6847.67 copies / 104 cells,the accelerated phase was 306 176.08 copies / 104 cells,and the average results were 944.33, 2.37, 0.29, 0 copies / 104 cells after allogeneic hematopoietic stem cell transplantation one month,6 months,12 months or 24 months respectively.The average of RQ-PCR detection after use imatinib mesylate 3 months was 3720.23 copies / 104 cells and not be detected after one year. The average was 7290.11 and 3143.24 copies / 104 cells after hydroxyurea treatment 0 and 9 months respectively.The difference in first two groups was not significant (t=1.74,P=0.17), but the difference between the third group and the first two groups was significant (t=3.74,P=0.01.t=2.97,P=0.02). The upregulation of bcr-abl transcript levels could be detected when disease progression. The transcripts level in accelerated phase was significantly higher than that in chronic phase. Conclusion RQ-PCR can be used to detect the MRD,monitor the treatment outcome,predict disease recurrence and give early intervention.

One case of acute promyelocytic leukemia with 3'RARα submicroscopic deletion / 白血病·淋巴瘤

Objective To report a rare case of M3r subtype of acute promyelocytic leukemia (APL)with 3'-end of RARα (3'RARα) submicroscopic deletion, and the characters of morphologic, cytogenetic,molecular genetic and molecular biology studies. Methods Chromosomes of bone marrow (BM) cells were prepared with direct method and short-term culture method, and R-banding technique was used for karyotypic analysis. Fluorescence in situ hybridization (FISH) assays were performed on fixed BM cells using the following specific DNA probes: CEP X/Y alpha satellite DNA probe, LSI PML-RARα dual-color dual-fusion and LSI RARα dual-color break apart probes. A quantitative real-time reverse-transcription polymerase chain reaction (RT-PCR) was performed to detect the PML-RARα transcript. A multiplex nested RT-PCR was also performed, which may simultaneously detect the fusion genes derived from 29 chromosomal aberrations in acute leukemia including PML-RARα, PLZF-RARα and NPM-RARα fusion transcripts. Results R-banding analysis revealed a karyotype of 45,X,-Y[6]/46,XY[8], FISH using CEP X/Y probe further confirmed Y-chromosome loss. FISH analysis with RARα dual-color break apart probe demonstrated a deletion of the entire 3'-end of one allele of RARα gene. Cytogenetic, FISH and RT-PCR analyses showed no PML-RARα,PLZF-RARα, NPM-RARα, NuMA-RARα and STAT5b-RARα rearrangements. Conclusion A new RARαrearrangement involving 3'RARα submicroscopic deletion in APL without X-RARα fusion has been identified.FISH analysis with RARα dual-color break apart probe is a useful method for characterization of this abnormality, but its molecular consequences remain to be elucidated.

Clinical study on modified GMALL protocol for adult acute lymphoblastic leukemia / 白血病·淋巴瘤

Objective To analyze the treatment efficacy and safety of a modified GMALL protocol for adult acute lymphoblastic leukemia (ALL). Methods Data of 37 patients with newly diagnosed adult ALL treated with a modified GMALL protocol from January 2005 to December 2009 were retrospectively analyzed,and compared with that of 44 patients treated with an in-house conventional protocol at the same period.Results The complete remission (CR) rate was 89.2 %(33/37) treated with modified GMALL protocol. The cumulative overall survival (OS) rates at 1 year, 2 years, 3 years and 4 years were 77.5 %, 48.0 %, 40.0 %and 40.0 %, respectively. The main adverse events were grade 3 or grade 4 hematological toxicities and infections which were easily managed, and the treatment-related mortality rate was low. The OS of modified GMALL protocol was superior to that of the conventional protocol. Conclusion The modified GMALL protocol has a satisfying effect and the adverse events can be tolerated for adult ALL, so its clinical application can be encouraged.

Effects of Electromyography Biofeedback on Dystonia after Hepatolenticular Degeneration / 中国康复理论与实践

@#Objective To study the clinical efficacy of electromyography biofeedback on dystonia after hepatolenticular degeneration.Methods 40 patients with dystonia after hepatolenticular degeneration were divided into treatment group (n=20) and control group (n=20).All patients were treated with copper-cleaning, clonazepam and benzhexol hydrochloride etc., and acupuncture. The treatment group wastreated with electromyographic biofeedback in addition. They were assessed with modified Ashworth scale, modified Barthel index, and ankledorsiflexion active range of motion. Results The lower extremities function of all patients improved after treatment (P<0.05) and thetreatment group improved more than the control group (P<0.05). Conclusion Electromyography biofeedback is more effective to improvethe lower extremities function and activity of daily living in patients with hepatolenticular degeneration following dystonia.

Study on chromosomal aberrations in patients with multiple myeloma by fluorescence in situhybridization / 白血病·淋巴瘤

ObjectiveTo explore the genetic abnormalities of multiple myeloma (MM)patients by fluorescence in situ hybridization (FISH).MethodsWith the application of FISH,sequence specific DNA probes (IGH,DI3S319/p53 and 1q21/RB1) were applied to detect 14q32 rearrangement,del(13q14),del (17p13)and gain of lq21.Forty-four MM patients were enrolled in this study.ResultsThirty-two cases (72.7 ％) detected by FISH had genetic abnormality in 44 cases,lq21 amplification was observed in 11 cases (25.0 ％),while RB1 deletion in 17 cases (38.6 ％),D13S319 deletion in 16 cases (36.4 ％),p53 deletion in 6 cases(13.6 ％)and 14q32 translocation in 19 cases(43.2 ％).The patients with one abnormality was detected in 10 cases(22.7 ％),two abnormalities in 11 cases(25.0 ％),three abnormalities in 8 cases (18.2 ％),4 abnormalities in 3 cases(6.8 ％).28 were found to undergo split-phase by conventional cytogenetic in 44 patients.The patients with genetic abnormalities detected by conventional G-banding was 2 cases (7.14 ％),the difference with that in FISH was significant (P ＜0.05).Genetic abnormalities compared with clinical parameters showed that β2-MG in IGH gene abnormal patients were significantly higher than those without such abnormalities (P ＜0.05).Patients with bone marrow plasma cells of lq21 amplification were higher than those with normal karotypes(P ＜0.05),CRE was significantly higher among lq21 amplification and p53 deletion patients (P ＜0.05),CRP was significantly higher among p53 deletion patients (P ＜0.05).No significant difference was oberserved in relationship of the chromosome aberration and age,the chromosome aberration and stage.ConclusionThe most common genetic abnormalities in MM is IGH rearrangement and absence of RB1 and D13S319,followed by lq21 amplification,the least is p53 deletion.FISH is a rapid and sensitive technique to refine chromosome aberrations in MM.The specific detection for genomic features of MM is proved to be correlative with its clinicopathologic characteristics and the prognosis.

Acupuncture and Transcutaneous Electrical Nerve Stimulation on Dysphagia for Hepatolenticular Degeneration / 中国康复理论与实践

@#ObjectiveTo study the clinical efficcacy of combined therapy of acupuncture, transcutaneous electrical nerve stimulation and swallowing function training in the treatment of dysphagia for hepatolenticular degeneration.MethodsSixty patients with dysphagia for hepatolenticular degeneration were divided into three groups: group A treated with acupuncture, transcutaneous electrical nerve stimulation and swallowing function training, group B treated with acupuncture and swallowing function training, and group C treated with transcutaneous electrical nerve stimulation and swallowing function training. The three groups had all been treated for two courses of treatment(30 d).ResultsThe therapeutic effect of group A outweighed groups B and C and the socres of water swallow test and standardized bedside swallowing assessment(SSA) were higher in group A than in groups B and Cafter the first course of treatment(P＜0.01), while there were no significant difference among the three groups (P>0.05) after the second course of treatment.ConclusionCombined therapy of acupuncture, transcutaneous electrical nerve stimulation and swallowing function training is effective to improve the swallowing function of hepatolenticular degeneration following dysphagia.

Value of immunofluorescent technique for clinical diagnosing muscular dystrophy / 临床神经病学杂志

Objective To explore the value of immunofluorescent technique for clinical diagnosing Duchenne muscular dystrophy(DMD),Becker muscular dystrophy(BMD) and Limb-girdle muscular dystrophy(LGMD).Methods Immunofluorescent technique was applied,and the expressions of Dys1,Dys2,Dys3 monoclonal antibodies and ?-,?-,?-sarcoglycan(SG) polyclonal antibodies against dystrophin,?-SG,?-SG,?-SG in musculomembranes of frozen section specimens from 25 patients(10 cases of DMD,4 cases of BMD and 11 cases of LGMD) were detected.Results 10 DMD patients had negative staining of dystrophin,and 4 BMD patients had discontinuous or a patchy positive staining pattern.All LGMD patients had positive dystrophin staining.There was one patient presented negative staining of ?-SG and ?-SG,respectively.Conclusions Detecting of dystrophin by immunofluorescent technique is special and helpful in diagnosing and classifying DMD/BMD.At present,SG may not be used in diagnosing the LGMD patients.