Susceptibility vessel sign in subacute stroke patients with large vessel occlusion / 北京大学学报(医学版)

OBJECTIVE@#To investigate the presentation of susceptibility vessel sign (SVS) in subacute stroke patients with large vessel occlusion.@*METHODS@#We collected consecutive stroke patients who were admitted to Peking University First Hospital from December 2017 to August 2019 retrospectively. Those who had intracranial large vessel occlusion and received sensitivity weighted imaging (SWI) within 3 to 14 days after stroke onset were included in our analysis. The diagnosis of large vessel occlusion was based on magnetic resonance angiography (MRA), CT angiography (CTA) or digital subtraction angiography (DSA). The demographic information, clinical characteristics and imaging results were obtained from medical record. The occurrence rates of SVS sign were compared between stroke patients with cardioembolism (CE) and large artery atherosclerosis (LAA). In the sensitivity analysis, we performed a subgroup analysis in those patients who received SWI within 7 to 14 days after stroke onset. We also compared the occurrence rate of SVS sign between the patients with and without atrial fibrillation.@*RESULTS@#A total of 51 patients, 19 females and 32 males, with an average age of (63.04±11.23) years were analyzed in this study. Compared with LAA group, the patients in CE group were older and more likely to have an atrial fibrillation (P < 0.05). There were no significant differences between the CE group and LAA group in gender, hypertension, diabetes, coronary heart disease, hyperlipidemia, smoking, or National Institute of Health stroke scale(NIHSS) score at admission. SVS sign was found in 30 patients. Of whom, 3 were in CE group and 27 in LAA group. The occurrence rate of SVS sign was higher in the LAA group than in the CE group significantly (65.9% vs. 30.0%, P=0.039). The subgroup analysis showed that, in the patients who received SWI examination within 7 to 14 days after stroke onset, the differences between the two groups were still statistically significant (0 vs. 72.7%, P=0.006). Another sensitivity analysis showed that, the rate of SVS in the patients with atrial fibrillation was significantly lower than those patients without atrial fibrillation (25% vs. 65.1%, P=0.043).@*CONCLUSION@#In subacute stroke patients, the occurrence rate of SVS sign in CE group was lower than that of LAA group. The significance of SVS sign in the differentiation of stroke subtype needs further validation.

Prediction of syncope with nonlinear dynamic analysis during head-up tilt in vasovagal syncope patients / 北京大学学报(医学版)

OBJECTIVE@#To quantify the relationship between cerebral blood flow velocity and peripheral blood pressure during hypotension period, aiming to predict the brain hypotension before symptomatic occurrence.@*METHODS@#Twenty vasovagal syncope (VVS) patients who had a previous clinical history were selected in groups and 20 pair-matched control subjects underwent 70° tilt-up test. The subjects remained supine for 30 minutes before recordings when Doppler probes, electrodes and Finapres device were prepared. After continuous baseline recordings for 10 min, the subjects underwent head up tilt (HUT) test (70°), and were standing upright for 30 minutes or until syncope was imminent. For ethical reasons, the subjects were turned back to supine position immediately after SBP dropped to ≥20 mmHg, when their consciousness persisted. The point of syncope was synchronized for all the subjects by the point SBP reached the minima. Their beat-to-beat blood pressures (BP) were recorded continuously and bilateral middle cerebral artery (MCA) flow velocities were obtained with two 2 MHz Doppler probes from a transcranial Doppler ultrasonography (TCD) system. A nonlinear dynamic method--multimodal pressure flow (MMPF) analysis was introduced to access cerebral autoregulation during different time intervals. We introduced a new indicator--syncope index (SI), which was extracted from blood flow velocity (BFV) signal to evaluate the variation of cerebral vascular tension, and could reflect the deepness of dicrotic notch in BFV signal.@*RESULTS@#Compared with the syncope index of the baseline value at the beginning of the tilt test, SI in VVS group showed significantly lower when the VVS occurred (0.16±0.10 vs.0.27±0.10,P<0.01),while there was no significant difference in syncope index between the control group at the end of the tilt test and the baseline value at the beginning of the tilt test. For those VVS patients, pulse index and resistance index had no significant change. Syncope index decreased significantly 3 minutes before the point of syncope (0.23±0.07 vs.0.29±0.07,P<0.01).@*CONCLUSION@#Dynamic regulation is exhausted when vasovagal syncope occurred. Tension decrease of small vessels could have some relationship with loss of the cerebral autoregulation capability. The proposed syncope index could be a useful parameter in predicting syncope of VVS patients since it decreased significantly up to 3 minutes earlier from the point of syncope.

Efficacy and Safety of Teriflunomide in Chinese Patients with Relapsing Forms of Multiple Sclerosis: A Subgroup Analysis of the Phase 3 TOWER Study / 中华医学杂志(英文版)

Background@#Disease-modifying therapy is the standard treatment for patients with multiple sclerosis (MS) in remission. The primary objective of the current analysis was to assess the efficacy and safety of two teriflunomide doses (7 mg and 14 mg) in the subgroup of Chinese patients with relapsing MS included in the TOWER study.@*Methods@#TOWER was a multicenter, multinational, randomized, double-blind, parallel-group (three groups), placebo-controlled study. This subgroup analysis includes 148 Chinese patients randomized to receive either teriflunomide 7 mg (n = 51), teriflunomide 14 mg (n = 43), or placebo (n = 54).@*Results@#Of the 148 patients in the intent-to-treat population, adjusted annualized relapse rates were 0.63 (95% confidence interval [CI]: 0.44, 0.92) in the placebo group, 0.48 (95% CI: 0.33, 0.70) in the teriflunomide 7 mg group, and 0.18 (95% CI: 0.09, 0.36) in the teriflunomide 14 mg group; this corresponded to a significant relative risk reduction in the teriflunomide 14 mg group versus placebo (-71.2%, P = 0.0012). Teriflunomide 14 mg also tended to reduce 12-week confirmed disability worsening by 68.1% compared with placebo (hazard ratio: 0.319, P = 0.1194). There were no differences across all treatment groups in the proportion of patients with treatment-emergent adverse events (TEAEs; 72.2% in the placebo group, 74.5% in the teriflunomide 7 mg group, and 69.8% in the teriflunomide 14 mg group); corresponding proportions for serious adverse events were 11.1%, 3.9%, and 11.6%, respectively. The most frequently reported TEAEs with teriflunomide versus placebo were neutropenia, increased alanine aminotransferase, and hair thinning.@*Conclusions@#Teriflunomide was as effective and safe in the Chinese subpopulation as it was in the overall population of patients in the TOWER trial. Teriflunomide has the potential to meet unmet medical needs for MS patients in China.@*Trial Registration@#ClinicalTrials.gov, NCT00751881; https://clinicaltrials.gov/ct2/show/NCT00751881?term=NCT00751881&rank=1.

Prehospital Identification of Stroke Subtypes in Chinese Rural Areas / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Differentiating intracerebral hemorrhage (ICH) from cerebral infarction as early as possible is vital for the timely initiation of different treatments. This study developed an applicable model for the ambulance system to differentiate stroke subtypes.</p><p><b>METHODS</b>From 26,163 patients initially screened over 4 years, this study comprised 1989 consecutive patients with potential first-ever acute stroke with sudden onset of the focal neurological deficit, conscious or not, and given ambulance transport for admission to two county hospitals in Yutian County of Hebei Province. All the patients underwent cranial computed tomography (CT) or magnetic resonance imaging to confirm the final diagnosis based on stroke criteria. Correlation with stroke subtype clinical features was calculated and Bayes' discriminant model was applied to discriminate stroke subtypes.</p><p><b>RESULTS</b>Among the 1989 patients, 797, 689, 109, and 394 received diagnoses of cerebral infarction, ICH, subarachnoid hemorrhage, and other forms of nonstroke, respectively. A history of atrial fibrillation, vomiting, and diabetes mellitus were associated with cerebral infarction, while vomiting, systolic blood pressure ≥180 mmHg, and age <65 years were more typical of ICH. For noncomatose stroke patients, Bayes' discriminant model for stroke subtype yielded a combination of multiple items that provided 72.3% agreement in the test model and 79.3% in the validation model; for comatose patients, corresponding agreement rates were 75.4% and 73.5%.</p><p><b>CONCLUSIONS</b>The model herein presented, with multiple parameters, can predict stroke subtypes with acceptable sensitivity and specificity before CT scanning, either in alert or comatose patients. This may facilitate prehospital management for patients with stroke.</p>

Clinical profile, risk factors and aetiology of young ischaemic stroke patients in Asia: A prospective, multicentre, observational, hospital-based study in eight cities

Background and Objective: There is a lack of international collaborative studies on young adults with ischaemic stroke in Asia. The aim of this study was to investigate risk factors, aetiology and outcome at hospital discharge of these patients across 8 participating countries in Asia. Methods: This was a prospective, observational, multicentre, hospital based cohort study. Consecutive young stroke patients with confirmed cerebral infarction between the ages of 18-49 were recruited from December 2011 to May 2012. Data was collected for patient demography, risk factors, investigations, clinical profile and TOAST classification. Outcome measures were death and independence (modified Rankin score≤ 2) at hospital discharge. Results: Two hundred and eighteen patients with the mean age was 40.8±6.7 years were recruited. There was a larger proportion of male patients with a ratio of 1.9:1. Traditional risk factors observed were hypertension (n=103; 47.3%), dyslipidaemia (n=93; 42.4%), smoking (n=85; 38.8%), diabetes (n=53; 24.3%), alcohol use (n=33; 15.0%), a previous history of stroke and transient ischaemic attacks (6.4%), family history (n=12; 5.5%), migraine (n=6;2.8%), pregnancy related (n=5; 2.3%) and numerous cardiac risk factors (0.9-5.5%). The majority suffered arterial infarction; n=216 (99.4%) while n=2 (0.6%) had venous strokes. The predominant stroke subtypes were large artery atherosclerosis (LAA); 29.8% and small vessel occlusion (SVO); 20.2%. LAA and SVO accounted for 37.5% of all stroke subtypes in the ≤36 year age-group. Cardioembolism (15.1%) and stroke of determined aetiology (14.7%) contributed to the other categories of identified stroke subtypes. Mortality on hospital discharge was 3.1% while 65.1% of patients were independent on discharge. Conclusion: This study demonstrated the substantial presence of premature atherosclerosis and conventional risk factors in young ischaemic stroke patients from 8 Asian cities. Venous infarction from cerebral venous thrombosis was rare in this study. Outcome on hospital discharge was poorer compared to Western studies. Detection of vascular risk factors and primary prevention measures should be initiated during late adolescence or early adulthood in urban Asia.

Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the mutations of glutaryl-CoA dehydrogenase (GCDH) gene in patients with glutaric aciduria type I(GA-1).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood cells of the eight probands with GA-1 who were diagnosed by urine and blood analyses. By PCR and direct sequencing, all 11 exons and their flanking sequences of the GCDH gene were examined. Mutation search was also performed in some of their family members.</p><p><b>RESULTS</b>Among the eight patients diagnosed by metabolic screening, seven patients belonged to classical infantile-onset. One patient, however, was adult-onset, who was admitted to the hospital because of suffering from ischemic cerebral stroke. The GCDH gene mutations were identified in all the eight probands with GA-1: five of them had compound heterozygous mutations, while the other three harbored only one heterozygous mutation. Totally, nine different mutations of the GCDH gene were identified in the eight probands, four of them were novel, i.e., c.148T>C, c.371G>A, 909delC and c.263G>A.</p><p><b>CONCLUSION</b>GCDH gene mutations are identified in 8 patients with GA-1 in mainland China, including one adult patient with late onset. Four novel mutations of GCDH gene are found which expanded the mutational spectrum of the GCDH gene.</p>

Application of fluorescence in situ hybridization to prenatal diagnosis of aneuploidy in 110 uncultured amniotic fluid samples / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To optimize the prenatal diagnosis platform by using domestically made fluorescence in situ hybridization(FISH) kit and to explore the clinical application of FISH to rapid prenatal diagnosis of a wide range of chromosomal abnormalities.</p><p><b>METHODS</b>Amniotic fluid samples from 110 pregnant women were studied with the rapid prenatal diagnosis method of FISH and the conventional cell culture method of karyotyping, the results from both methods were compared.</p><p><b>RESULTS</b>Four cases of trisomy 21, 1 case of trisomy 18, 58 cases of 46, XX, and 47 cases of 46, XY were detected by FISH in the 110 amniotic fluid samples. It is concordant with the results from conventional karyotype analysis. The concordance rate is 100%.</p><p><b>CONCLUSION</b>Domestically made FISH kit can be used to rapidly and accurately detect the most common chromosome aneuploidies by using less sample volume while the price is relatively low. FISH can be a reliable and rapid prenatal diagnostic tool as an adjunct to classical cytogenetic study. It can be used for rapid and accurate prenatal diagnosis of women with high risk of maternal serum screening.</p>

Incidence and prognosis of intra-and extracranial large-artery stenosis in the rural community of Beijing / 中华流行病学杂志

Objective To assess the prevalence rates of intra-and extraeranial large-artery stenosis in the rural community population and its related risk to the development of stroke.Methods The study subjects included 1337 residents in the rural community of Beijing.Transcranial Doppler Was carried our to examine the relation between intra-and extracranial large-artery stenosis and subsequent cerebrovascular events, with a meall follow-up period of 16.7 months.Results The incidence densities of cerebral infarction and cerebral hemorrhage in persons without cerebral large-artery stenosis were 410.6 and 351.9/100-thousand person-years,respectively.In the group wlth large-artery stenosis,the incidence density of cerebral infarction was 3303.7/100-thousand person-years.Data from The Fisher's Exact test showed a significant difference in the two groups (P=0.004).Cerebral large-artery stenosis(OR=6.593,95%CI:1.712-25.390)and smoking (OR=8.437,95% CI:2.327-30.598)appeared to be independent risk factors to cerebral infarction.Conclusion Cerebral large-artery stenosis and smoking were independent risk factors to cerebral infarction.

Effect of different duration of clopidogrel pretreatment on platelet activation in patients undergoing stenting / 中华外科杂志

<p><b>OBJECTIVE</b>To investigate the effect of two clopidogrel pretreatment duration on platelet activation in patients undergoing stenting.</p><p><b>METHODS</b>From July 2006 to December 2007 40 elective carotid or vertebral artery stenting patients were assigned into two groups: Group A (n = 24) initiated clopidogrel (75 mg/d) > or = 5 d before stenting; group B (n = 16) initiated 3 - 4 days. Platelet-monocyte aggregates and fibrinogen receptors analyzed by flow cytometric, and platelet aggregation tests using optical aggregometry, as well as serum soluble CD40 ligand quantified by enzyme-linked immunosorbent assay were assessed in peripheral blood samples obtained immediately before and at 0.5, 18 h and 6 d after stenting.</p><p><b>RESULTS</b>Platelet-monocyte aggregates, fibrinogen receptors and serum soluble CD40 ligand were higher in group B than in group A (14.59% vs 8.70%, P = 0.012; 4.87% vs 2.42%, P = 0.024; 5.79 microg/L vs 2.64 microg/L, P = 0.020) at 18 h after stenting. Serum soluble CD40 ligand was higher in group B than in group A (0.49 microg/L vs 0.31 microg/L, P = 0.033) at 0.5 h after stenting.</p><p><b>CONCLUSIONS</b>Premedication before stenting with clopidogrel 75 mg/d merely 3 - 4 d may be insufficient to achieve adequate platelet inhibition, whereas clopidogrel initiated at least 5 d could obtain preferable clinical antiplatelet efficacy.</p>

Study of the HLA-A, B, DRB1 allele and haplotype frequencies of 4194 cord blood samples in Guangzhou / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the distribution of the human leukocyte antigen (HLA)-A, B and DRB1 allele and haplotype in cord blood samples preserved in Guangzhou Cord Blood Bank collected in the last 10 years.</p><p><b>METHODS</b>The HLA-A, B and DRB1 genotyping of 4194 cord blood samples were detected by Special Monoclonal Tray, PCR-sequence specific promer (PCR-SSP), PCR-sequence specific oligonucleotide probe (PCR-SSO) and sequence based typing (SBT). Frequencies of HLA-A, B and DRB1 allele and haplotype were calculated by Arlequin software.</p><p><b>RESULTS</b>The total numbers of HLA-A, B and DRB1 alleles are 18, 43, 13 respectively. The obviously high frequency alleles are A*11, A*02, A*24, A*33, B*40, B*15, B*46, B*13, DRB1*12, DRB1*15, DRB1*09 and DRB1*04, with accumulative frequency of each locus being more than 50%. The most common haplotypes are A2-B46, B46-DR9, A11-DR12 and A2-B46-DR9.</p><p><b>CONCLUSION</b>The distribution of HLA-A, B and DRB1 allele and haplotype of cord blood in Guangzhou Cord Blood Bank has typical characteristics of southern Chinese Han population. Authors' data may help in searching for appropriate donors.</p>

Complication of acute stroke: A study in ten Asian countries

Background and Objective: There is a paucity of studies looking into the frequency of complications after stroke among Asians. We sought to determine the frequency and rate of complications among Asians after acute stroke. Methods: Consecutive patients with acute stroke among 10 participating Asian countries were included in the study. The frequency and timing of pre-determined complications, and their relation to area of admission were noted. Results: Of the 1,153 patients included in the study, 423 (41.9%) developed complications within the first 2 weeks of stroke. Recurrent stroke, chest infections and urinary tract infections were most commonly encountered, and were most frequent within the first week of stroke onset. A lower rate of complications was noted among patients admitted at an organized stroke unit. Conclusion: There is a similar rate of frequency and timing of complications after acute stroke among Asians as compared with other populations.

Results of unrelated umbilical cord blood stem cell transplantation for 65 patients in China / 中华儿科杂志

<p><b>OBJECTIVE</b>From December 1998 to April 2004, 3960 umbilical cord blood units were stored in Guangzhou cord blood bank, which provided 100 umbilical cord blood units to 25 transplant center for 83 patients with malignant or non-malignant diseases. To study the related factors affecting unrelated umbilical cord blood stem cell transplantation, the authors analyzed retrospectively the results of transplantation of unrelated umbilical cord blood stem cells for 65 patients.</p><p><b>METHODS</b>ALL (acute lymphocytic leukemia) cord blood units were obtained from full term normal vaginal and cesarean deliveries in Guangzhou Women and Infants Hospital. The fractionation, cryopreservation and thawing of the cord blood were performed according to the regulations of New York umbilical cord blood bank and pertinent literature. The selection of cord blood was based on HLA typing and the number of nucleated cells. The sex and HLA antigens of donors were defined as the evidence of engraftment. Time to engraftment was recorded when the absolute number of neutrophil ANC (absolute neutrophil count) was higher than 5.0 x 10(8) for three days. Event-free survival and graft versus host disease (GVHD) were provided by transplant centers.</p><p><b>RESULTS</b>Out of 65 patients who received unrelated cord blood stem cell transplant, 49 patients were diagnosed as having malignant diseases [including 23 with ALL, 16 with AML (acute myeloid leukemia), 7 with CML (chronic myelogenous leukemia), 3 with lymphoma and one with MDS (myelodysplastic syndrome)], 16 patients had non-malignant disease. The 65 transplanted patients (42 male, 23 female) had a median age of 10 years (range 1 - 33 years) and a median body weight of 27 kg (range 10 - 67 kg). The patients received cord blood stem cells from unrelated 0-locus (n = 9) or 1-locus (n = 43) or 2-locus (n = 13) HLA mismatched donor. The median dose of infused cells was: total neutrophil count (TNC) 5.7 x 10(7), CD(34)(+) 5.1 x 10(5), CFU-GM 3.8 x 10(4). Fifty of 65 (77%) patients had engraftment. GVHD occurred in 41 patients (63%), including acute grade I - II GVHD in 31 patients (76%), acute grade III - IV GVHD in 8 patients (20%) and chronic GVHD in 2 patients (5%). Fifty patients had engraftment (ANC > 5.0 x 10(8)) after a median time of 17 (range 7 to 44) days after transplant, while an autologous hematopoietic reconstitution was observed in 6 patients; 24 patients died of severe pneumonia (n = 8), acute GVHD (n = 4), or sepsis (n = 12) and the disease-free survival probability was 61%.</p><p><b>CONCLUSIONS</b>Unrelated allogeneic umbilical cord blood transplantation may be a good substitution for unrelated allogeneic bone marrow transplantation with a good prospect.</p>

HLA-B gene polymorphism detected by high-resolution sequence-based typing in Guangdong Han populations / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the genetic polymorphism of HLA-B locus in Guangdong Han population and compare the characteristic of the allele frequency distribution with that in other populations.</p><p><b>METHODS</b>A total of 562 cord blood samples from Guangzhou Cord Blood Bank were analyzed by sequence-based typing. Then the sequences encompassing exons 2, 3, and 4 for HLA-B gene were analyzed by direct sequencing of PCR products. The allele frequency distribution of HLA-B in this population was compared with that in other populations.</p><p><b>RESULTS</b>A total of 59 different HLA-B alleles were detected, and among them were 6 HLA-B alleles with frequencies higher than 5%: HLA-B*4601 (14.5%), HLA-B*400101 (14.4%), HLA-B*1502 (11.5%), HLA-B*1301 (8.6%), HLA-B*5801 (8.1%) and HLA-B*380201 (6.4%); the total frequency of these six alleles was 63.5%. At the same time, there were 30 kinds of HLA-B allele with frequencies lower than 0.5%; the total frequency of these alleles was 4.9%. Maximum variation at HLA-B was seen in the HLA-B*15 allele family (nine alleles). Comparison of the HLA-B frequencies in different populations showed a close relationship of Guandong Han population with the Chinese populations from Hong Kong and Singapore, respectively.</p><p><b>CONCLUSION</b>The results have shown the characteristic of HLA-B distribution and provided more accurate genotypic data that may serve as normal reference value for the Han population in Guangdong, China.</p>

Polymorphisms analysis of short tandem repeat loci D21S1433, D21S1442, D21S1444, D21S2051 in Guangdong Han nationality in China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the polymorphic distribution of short tandem repeat (STR) sequences D21S1433, D21S1442, D21S1444, D21S2051 in Guangdong Han nationality in China.</p><p><b>METHODS</b>Using quantitative fluorescens PCR technology, the authors analyzed 200 unrelated samples to acknowledge the allele frequency, heterozygosity and other genetic information.</p><p><b>RESULTS</b>D21S1433, D21S1442, D21S1444, D21S2051 were tested in 200 samples, which were tested to be statistical according to Hardy-Weinberg equilibrium (P> 0.05), 9, 10, 9 and 5 alleles were detected separately in each STRs. The heterozygosity of each STR was 0.818, 0.820, 0.770, and 0.261. The polymorphic information content > 0.7 in D21S1433, D21S1442, D21S1444, while D21S2051 owned only 0.247 polymorphic information.</p><p><b>CONCLUSION</b>D21S1433, D21S1442, D21S1444 are found to have high heterozygosity and polymorphic information content, and they could provide useful markers for genetic purposes, while D21S2051 is not informative in Guangdong Han nationality in China.</p>

Correlative analysis between HLA high resolution typing and GVHD in 48 cases received unrelated umbilical cord blood transplantation / 中国实验血液学杂志

Unrelated umbilical cord blood units for 54 cases in 21 transplant centers were provided by Guangzhou Cord Blood Bank in China from 1998 to 2003. This study was aimed to identify HLA-DRB1 alleles by means of PCR sequencing based typing methods (SBT) and to analyze the correlation between HLA-DRB1 alleles and GVHD in unrelated umbilical cord blood transplantation (UCBT). 48 out of 54 patients received UCBT were followed up. DNA were extracted from cryopreservation blood of recipients/donors with UCBT, HLA-DRB1 alleles typing were done by SBT. Compared with low resolution results of HLA-DRB1 alleles, high resolution results were analyzed to see any correlation between HLA-DRB1 alleles and GVHD. by double-blind statistically analysis of HLA-DRB1 high resolution in 48 donor/recipient typings in UCBT. The results showed that the incidence of GVHD (25%) in patients who has HLA-DRB1 alleles matched with donors significantly lower (65.6%) than that in the patients with HLA-DRB1 alleles mismatched (P = 0.008). It is concluded that HLA-DRB1 by high resolution typing method is important in clinical application in UCBT.

Clinical application of HLA sequencing in unrelated umbilical cord blood transplantation / 中国实验血液学杂志

From June 1998 to July 2004, Guangzhou umbilical cord blood bank provided unrelated umbilical cord blood for 54 patients to more than 21 transplantation centers. HLA sequencing-based typing (SBT) was used to re-analyze the results of HLA antigens and alleles so as to investigate the relationship between HLA alleles and GVHD. The information about 48 out of 54 patients was obtained after 6 months of follow up. SBT was used to identify HLA-A, B, DRB1 alleles in 48 patients received the unrelated umbilical cord blood units, and the obtained results were compared with the results of HLA-SSP Low Resolution Typing. The results showed that the difference of GVHD incidence between less than 2 mismatched HLA sites and less than 3 sites was statistically significant (P < 0.05). In the results from single factor analysis and high-resolution typing of HLA-A, B and DRB1 alleles, the mismatch between HLA-B and HLA-DRB1 alleles was found to be a significant factor for the occurence of GVHD. It is concluded that SBT plays an important role in umbilical cord blood transplantation, and the incidence of GVHD is higher in the transplantation with HLA-DRB1 alleles mismatching.

Retrospective analysis of 54 cases of unrelated umbilical cord blood transplantation / 中国实验血液学杂志

In order to research the related factors of umbilical cord blood transplantation, 54 cases of unrelated umbilical cord blood transplantation were analyzed retrospectively, which were performed from June 1998 to July 2003. All cord blood units were obtained from full term normal vaginal deliveries in Guangzhou Maternal-Neonatal Hospital. The fractionation, cryopreservation and thawing of cord blood have been done according to the regulation of New York umbilical cord blood bank and pertinent literature. The selection of cord blood is based on HLA typing and the number of nucleated cells. The results showed that from June 1998 to July 2003, 3 475 units of cord blood were collected in Guangzhou Umbilical Cord Blood Bank and 99 units were provided for therapy of 85 patients in 21 transplantation centers, including 11 sibling and 74 unrelated cord blood transplantations. 54 cases of unrelated cord blood transplantation were reported, including 43 malignant diseases and 11 non-malignant diseases. The median age of recipients was 9.5 (range 1.2 - 33) years, the median weight was 27 (range 10 - 60) kg, the median number of TNC was 6.82 x 10(7)/kg, 43 cord blood were implanted (ANC > 500/microl) at day 60 after transplantation (79.6%, median 17). The time of nuclear cell reconstitution after cord blood transplantation was statistically related with nucleated cells and the type of disease, not related with HLA matching. Acute GVHD was present in 8 patients (21.6%) and chronic GVHD occurred in 2 patients (5.4%), 6 patients suffered from graft failure (11.1%). The total survival rate was 42.6%. It is suggested that unrelated umbilical cord blood transplantation seems to be a good substitute for bone marrow transplantation and has good prospects especially in children.

Application of real-time fluorescence quantitative PCR to rapid molecular detection of Down's syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To develop a rapid and reliable technique for the detection of Down's syndrome.</p><p><b>METHODS</b>The peripheral blood samples were collected from twenty-five Down's syndrome patients and fifty normal individuals. Four polymorphic loci on chromosomes 21, 1, 19 were amplified by real-time fluorescence quantitative PCR, and then four pairs of deltaCt values were analytically compared between the two groups.</p><p><b>RESULTS</b>The deltaCt values of Down's syndrome patients were significantly lower than those of normal individuals, and the reference ranges for clinical application were primarily established. The difference between the two groups was highly significant (P < 0.001), and the reference ranges between the two groups were not overlapped. Real-time quantitative PCR technique can effectively differentiates Down's syndrome samples from the normal fetuses; furthermore, the results were consistent with those of the karyotype analysis.</p><p><b>CONCLUSION</b>Real-time quantitative PCR is a fast and reliable method that may provide a new approach for rapid detection of Down's syndrome.</p>

Paraspinal elicited somatosensory evoked potentials in the detection of spinal cord lesions / 中华神经科杂志

Objective To explore the role of somatosensory evoked potentials elicited by paraspinal stimulation in the detection of spinal cord lesions.Methods Patients with clinically suspected spinal cord lesions underwent somatosensory evoked potentials(SEPs)and spinal cord conduction velocity(SCCV)test using paraspinal stimulating method.96 patients aged 15 to 75 years old with suspected spinal cord lesions of various aetiologies were tested.36 patients had demyelinating disease of the spinal cord,26 had sub-acute combined degeneration of the spinal cord,19 had myelopathy,10 had acute myelitis,5 had spinal cord corhpression.Results Paraspinal stimulation elicited somatosensory evoked potentials were Performed on all 96 patients,68 of whom underwent spinal MRI as well.SEPs and SCCV were found abnormal in a high ratio in all kinds of spinal cord lesions ; in general,78 among the 96 patients had abnormal SEPs with a sensitivity of 81.25%.27 out of 36 with demyelinating disease of the spine had abnormal SEPs with a sensitivity of 75.00%,23 out of 26 with subacute combined degeneration of the spinal cord had abnormal SEPs with a sensitivity of 88.46%,8 out of 10 with acute myelitis had abnormal SEPs,15 patients with myelopathy having abnormal findings,all 5 patients with spinal cord compression had abnormal SEPs.42 of 68 patients undergoing MRI revealed to be abnormal,in which 35 patients also had abnormal SEPs.The other 26 patients had normal spinal MRI,in which 21 patients had abnormal SEPs.Conclusions Paraspinal stimulation somatosensory evoked potentials and spinal cord conduction velocity may objectively document the abnormalities of electrophysiology,which occurs earlier than those of anatomy and radiological finds, therefore it may detect the dysfunction of spinal cord at an early stage.It is even more useful in the detecting of the metabolic myelopathy,which can hardly be detected by MRI.This technique is simple,inexpensive, and maybe useful in the diagnosis for patients with suspected spinal cord lesions.

Value of sympathetic skin response test in the early diagnosis of diabetic neuropathy / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Diabetic neuropathy is common in diabetes mellitus. The early stage of diabetic neuropathy is often symptomless and difficult to be treated. The aim of this study was to assess the correlation between the results of the sympathetic skin response (SSR) test and the development of diabetic neuropathy, and explore the use of SSR as an objective basis for the early diagnosis of diabetic neuropathy.</p><p><b>METHODS</b>The latencies and amplitudes of initiation and of the N and P waves were determined by SSR testing of the extremities of 80 diabetic patients and 30 healthy controls.</p><p><b>RESULTS</b>The latencies of initiation and of the N and P waves were significantly (P <0.001) longer in diabetic patients than in the controls, while there was no significant difference in the amplitudes (P >0.05). All but two patients (97.5%) demonstrated abnormal SSR in at least one limb.</p><p><b>CONCLUSIONS</b>SSR can detect early dysfunction of the small sympathetic fibers in people affected by diabetes mellitus, and may be a useful electrophysiological test for the early diagnosis of diabetic neuropathy.</p>