海口地区1201例血红蛋白病筛查及基因检测的结果

目的 了解海口地区人群血红蛋白病的主要类型,为地中海贫血防控和医学研究提供有益的数据资料.方法 采用毛细管电泳法筛查血红蛋白病,Gap-PCR、PCR-RDB技术检测地贫表型阳性人群3种缺失型、3种非缺失型α-地贫;17种β-地贫.结果 1201例血红蛋白电泳病例,检出309例异常,阳性率25.73％,α-地贫表型阳性病例数最多,占总异常病例数70.87％,地贫外的异常血红蛋白病例占2.27％.经确诊,α-地贫检出12种基因型,--SEA/αα、-α 3.7/αα、-α4.2/αα三种基因型病例为主,β-地贫检出7种异常基因型,CD41-42/N、IVS-Ⅱ-654/N为主.结论 海口地区血红蛋白病以地贫,特别是α-地贫为主,应重视地贫防控,推广血红蛋白电泳技术.     

重庆市长寿区地中海贫血基因及血常规参数特征分析

目的 探讨重庆市长寿地区人群中地中海贫血（以下简称地贫）基因分布情况及血常规参数特征。方法 以2018年6月至2023年3月送至重庆市长寿区人民医院检验科的共4126例样本为研究对象。样本均进行血常规和地中海贫血基因检测。血常规参数包括：红细胞计数（red blood cell，RBC）、血红蛋白（hemoglobin，Hb）、平均红细胞体积（mean corpuscu larvolume，MCV）、平均红细胞血红蛋白量（mean corpuscu larhemoglobin，MCH）、平均红细胞血红蛋白浓度（mean corpuscu larhemoglobin concentration，MCHC）、红细胞分布宽度-CV（redblood cell distribution width CV，RDW-CV）、红细胞分布宽度-SD（redblood cell distribution width SD，RDW-SD）。地中海贫血基因检测采用单管多重聚合酶链反应法结合反向斑点膜条杂交技术进行。分析本地区地中海贫血基因型别和血常规参数特征。结果 4126例样本中，共检测出α、β地中海贫血408例，检出率为9.89%。其中α地贫255例，以缺失型-α3.7/-αα最为常见，检出2例--SEA/-α3.7，1例--SEA/HKαα；β地贫153例，以CD17占比最高。缺失型-α3.7/αα、--SEA/αα、-α4.2/αα及突变型ααCS/αα 地贫中MCV、MCH、MCHC均较对照组降低，差异有统计学意义（P<0.05）。CD17、CD41-42、Ivs-2-654组别中红细胞参数MCV、MCH、MCHC均低于对照组，参数RBC、RDW-CV及RDW-SD均明显高于对照组，差异有统计学意义（P<0.05）。结论 重庆市长寿区地贫基因型别以-α3.7/αα、--SEA/αα、-α4.2/αα、CD17、CD41-42、Ivs-2-654基因型为主，红细胞参数对地贫筛查具有重要临床意义。     

成都地区913例0～18岁儿童地中海贫血的筛查及基因分析

目的 分析成都地区0～18岁儿童地中海贫血的发病率、基因突变类型构成比,评估血红蛋白电泳联合红细胞相关参数在地中海贫血中的筛查价值。方法 回顾性分析成都地区913例地中海贫血初筛阳性病例的血液学特征、血红蛋白电泳检测数据及地中海贫血基因检测数据。结果 913例地贫初筛阳性的患儿,有523例基因诊断阳性(检出率57.28%),以α地贫为主,α地贫323例,β地贫195例,α复合β地贫5例。α地贫共检出6种基因型,其中以-α3.7/αα、--SEA/αα、-α4.2/αα为主。β地贫患儿共检出11种基因突变类型,以CD17(A→T)/β、IVS-II-654(C→T)/β和CD41-42(-TCTT)/β为主,6个月～18岁地中海贫血患儿以β地贫为主(构成比54.39%)。用血红蛋白电泳联合红细胞相关参数筛查地中海贫血患儿时,在0～28 d组,MCH的敏感度(86.84%)和MCV的特异度(83.98%)最高,在29 d～6个月组,MCV的敏感度(76.67%)和MCH的特异度(77.78%)最高,在6个月～18岁组,MCHC的敏感度(65.70%)和MCV(68.89%)的特异度最高,所有组里三项平行联和的敏感度和三项系列联合的特异度都比单项要高。结论 成都地区儿童地中海贫血基因突变发生率较高,血红蛋白电泳和红细胞相关参数能较好的筛查地中海贫血,降低漏诊率。     

海南地区13440对育龄夫妇地中海贫血基因检测结果分析

目的初步了解并分析海南地区育龄夫妇地中海贫血(地贫)的携带率、构成比及其基因分布特征,为地贫基因诊断及遗传咨询提供理论依据。方法选择2016年1月—12月海南地区13 440对血液筛选阳性育龄夫妇,进行地贫基因的检测,根据基因检测的结果,分为地贫组及非地贫组并比较其红细胞数量(RBC)、血红蛋白浓度(Hb)、平均红细胞体积(MCV)、平均血红蛋白量(MCH)、平均血红蛋白浓度(MCHC)。结果对13 440对育龄夫妇进行地贫基因检测,检出未携带地贫基因者8 604例,占32.01%;地贫基因携带者18 276例,占67.99%;其中α地贫基因携带者14 450例,占总检测人数的54.13%,占地贫基因携带者79.06%,最常见的地贫基因型为-α~(3.7)/αα,占全部α地贫基因携带者的18.12%,其次为-α~(4.2)/αα,占全部α地贫基因携带者的17.80%;β地贫基因携带者2 070例,占总检测人数的7.70%,占地贫基因携带者11.33%,最常见的地贫基因型为βCD41-42,占全部β地贫基因携带者的63.04%,其次为β-28,占全部β地贫基因携带者17.63%;β地贫复合α地贫基因携带者1 756例,占6.53%,另外占地贫基因携带者9.61%;与非地贫组比较,地贫组RBC明显升高(P0.01);Hb、MCV、MCH、MCHC明显降低(P0.01)。结论海南地区地贫基因类型复杂多样,其中以α地贫基因携带者为主,常见类型为-α~(3.7)/αα及-α~(4.2)/αα;β地贫基因携带者最常见基因类型为βCD41-42及β-28;地贫基因携带者RBC、Hb、MCV、MCH及MCHC均有别于非地贫者,这些参数及基因检测有助于我们完善筛查标准避免误诊漏诊,更好的为临床地贫基因诊断及遗传咨询提供理论依据。     

2650例育龄期妇女地中海贫血的筛查结果分析

目的：对南宁地区2650例育龄期妇女进行地中海贫血（简称：地贫）的筛查结果分析,了解人群地贫的发生率、携带率及基因类型。方法采用血液学检查和血红蛋白（Hb）电泳对受检人群进行实验室检查,筛查疑似人群,再进一步基因分析确诊。结果初筛出的536例疑为地贫患者（或基因携带者）的血液学检查结果：病例组红细胞、网织红细胞数高于对照组;Hb 低于对照组;平均红细胞体积和平均红细胞 Hb 含量显著低于对照组。 Hb 电泳结果中,检出512例结果异常者,其中α地贫表型阳性68例,β地贫表型阳性438例,确诊为α地贫（68例）和β地贫（438例）共计506例,占总受检人数的19．09％。结果显示本地区常见的α地贫基因型为东南亚缺失型杂合子（‐SEA /αα）、右缺失型杂合子（‐α3．7/αα）、左缺失型杂合子（‐α4．2/αα）、Hb Constant Spring （‐αCS /αα）点突变等,β地贫基因型为 CD41‐42杂合子、CD17杂合子、CD71‐72杂合子、CD28杂合子等。结论广西是地贫高发区,开展育龄期妇女婚前、孕前筛查,指导合理的联姻、妊娠,并通过人群干预来预防常见的人类单基因致死、致残性遗传病,对促进优生优育,提高人口素质有重要意义。     

2 376例地中海贫血基因筛查结果分析

  目的  了解于昆明医科大学第一附属医院就诊的地中海贫血（简称“地贫”）基因筛查者地贫基因阳性率和基因突变类型及分布特征。  方法  回顾性分析2017年4月1日至2018年12月31日于昆明医科大学第一附属医院就诊的地贫基因筛查者2376例，对地贫基因进行统计分析。  结果  （1）2 376例地贫基因筛查中检出地贫基因阳性样本817例，阳性率为34.39%；其中检出α地贫基因阳性样本392例，占总阳性样本的47.98%；β地贫基因阳性样本398例，占总阳性样本的48.71%；αβ复合型地贫基因阳性27例，占总阳性样本的3.30%；（2）392例α地贫基因阳性样本中以αα/--SEA、αα/-α3.7、αα/ααCS、αα/-α4.2和-α3.7/--SEA基因型为主，分别占α地贫的50.51%、32.91%、4.34%、3.57%和2.55%；398例β地贫基因阳性样本中以CD26、CD41-42、CD17、IVS II-654、nt28基因型为主，分别占β地贫的25.38%、23.37%、20.60%、20.60%和3.27%。  结论  云南地区地贫基因携带率仍较高，其中β地贫中CD26最多，与国内其它省市人群存在差异。     

重庆地区8 024例地中海贫血筛查结果及地贫基因型分析

目的：了解重庆地区人群中α、β地中海贫血基因型的分布情况。方法：送检对象来自重庆各区、县共计8 024例样本,采用单管多重聚合酶链反应法（gap single polymeras chain reaction,GSPCR）结合反向斑点膜条杂交技术（reverse dot blot hy－bridization,RDB法）同时进行α、β地中海贫血基因检测。各组标本送检之前已在各个医院进行外周血的红细胞数（red blood cell,RBC）、血红蛋白（hemoglobin,Hb）、红细胞平均体积（mean corpuscular volume,MCV）、红细胞平均血红蛋白（mean corpuscu－lar hemoglobin,MCH）、红细胞平均血红蛋白浓度（mean corpuscular hemoglobin concentration,MCHC）细胞、血红蛋白电泳指数测定进行地中海贫血的初筛。8 024例样本男1 267例,女6 757例, 0～91岁,按年龄分为儿童组（0～16岁）317例,青壮年组（17～49岁）7 552例,老龄组（50～91岁）155例。结果：8 024例样本共检出α、β地贫111 7例,比例为13.92%。α地贫479例,其中常见缺失型α地贫基因型为--SEA/αα（332例）,-α3.7/αα（84例）,-α4.2/αα（15例）,基因型以--SEA/αα最为常见,构成比分别为69.31％、17.54％、3.13％,共89.98％;以右缺失为主,--SEA/-α3.7 5例,--SEA/-α4.2 1例。非缺失型42例,占8.76%;确定为β地贫共619例,α复合β地贫19例。β地贫基因型本次研究中共计发现12种基因型,其中最常见的突变构成类型分别为CD17（A→T）、CD41-42（-TCTT）、IVS-2-654（C→T）、CD43、TATAboxnt-28（A→T）、βE共占96.12％,其中以CDl7（A→T）位点突变所占比例最高,CAP点突变和IVS1-1点突变各1例;8 024例样本中男性1 267例,其中地贫167例（13.18%）,女性6 757例其中地贫950例（14.06%）,男性和女性地贫检测阳性率差异无统计学意义（χ2=0.691,P=0.433）;男性α地贫77例,女性402例;男性β地贫74例,女性545例,男性检测为α地贫或β地贫与女性的2种地贫检测率之间的差异,无统计学意义（χ2=0.381,P=0.604）;儿童组317例确定为地贫107例（33.75%）,青壮年组7 552例确定为地贫982例（13.00%）,老年组155例确定地贫28例（18.06%）,地贫患者各个年龄组检测阳性无统计学差异（χ2=1.711,P=0.318）。结论：重庆地区地中海贫血患者中α地中海贫血以--SEA/αα基因型最为常见,β地中海贫血则以CDl7（A→T）位点的突变最为常见。同时,青壮年组地贫的危害在于青壮年为生育年龄的集中段,所以对青壮年人群进行地贫的筛查和基因诊断,对提高人口素质有重要作用。     

武鸣地区壮族人群地中海贫血筛查及基因型特点分析

目的研究广西武鸣地区壮族人群α-地中海贫血(简称地贫,下同)和β-地贫的初筛阳性率、基因突变类型及少见地贫基因型病例的特点。方法收集2016年8月—2018年8月期间入院的9215例新生儿脐带血进行α-地贫筛查,对同期4778例武鸣籍壮族成人进行β-地贫筛查。在筛查出的阳性病例中,选择部分病例做地贫基因检测和型别分析,同时联合分析部分患者的表型(血常规和血红蛋白电泳数据),对表型和基因不一致的进一步外送测序。结果在9215例脐血样本中,检出1322例有Hb Bart’s(α-地贫),α-地贫筛查阳性率为14.35%(1322/9215),4778例壮族成人样本中,检出345例为β-地贫筛查阳性,β-地贫筛查阳性率为7.22%(345/4778),总阳性率为21.57%(14.35%+7.22%)。在筛查阳性病例中有1030例进行了地贫基因检测,734例在本院确诊为地贫,其中α-地贫447例,占60.90%(447/734),β-地贫243例,占33.11%(243/734),α复合β地贫44例,占5.99%(44/734),α-地贫、β-地贫、α复合β地贫三者之比约为11∶6∶1。α-地贫排在前四位的依次为--SEA/αα、~-α~(3.7/αα、ααCS/αα、--SEA/ααCS。β-地贫排在前四位的依次为β41-42/βN、β17/βN、β71-72/βN、βE/βN。α-地贫以静止型和轻型为主,占48.78%。1030例进行地贫基因检测中有6例出现表型和基因型不一致的病例进一步外送测序,发现4例少见地贫基因型,分别为少见β-地贫(CD-52)2例,β-地贫(CD-98)1例,α-地贫THAI 1例。结论武鸣地区壮族人群为地贫高发人群,α-地贫CS突变率比较高,α-地贫静止型和轻型比较多。临床中应注意少见型地贫的出现,防止漏检和重症地贫患儿的出生。     

河池市孕妇产前地中海贫血筛查及基因诊断

目的研究河池市孕妇携带地中海贫血基因型状况。方法用红细胞平均体积和血红蛋白电泳法对1176例孕妇血样进行地贫筛查,对筛查为可疑α地贫者用gap—PCR法进行基因检测,可疑β地贫者采用反向杂交技术,使用24条探针检测中国人群常见的8个位点,以确诊地贫基因类型。结果从1176例孕妇中确诊检出地贫139例占11．8％,其中α地贫76例,检出率为6．46％,确诊检出β地贫63例,检出率为5．35％。α地贫常见基因型10种,轻型以αα／--^SEA为主,检出率为3．31％,静止型以αα/-α^3.7为主,检出率为2．63％,中间型以-α^3.7／--^SEA为主,检出率为0．25％,其构成比分别为51．3％、40．7％、7．89％;13地贫共检出7种,其中以CD41-42（-TCTT）居多,检出率2．55％,其中最常见有3种基因型,分别是CD41-42（-TCTT）、CD17（A→T）、-28（A→G）,其构成比占突变基因80．8％。结论河池市孕妇中有较高地贫基因携带者。     

四川南充地区1056例地中海贫血初筛阳性样本的基因诊断结果分析

目的:了解四川南充地区人群α、β-地中海贫血的基因类型及分布特征.方法:选取南充市中心医院2015年7月至2017年7月就诊的MCV、MCH异常(MCV<80 fl和或MCH<27 pg),且已排除缺铁性贫血和其他贫血性疾病的疑似地中海贫血患者,采集EDTA抗凝静脉血3 mL,采用国际先进的多聚酶链扩增(GAP-PCR)技术和DNA芯片反向斑点杂交检测技术进行α、β-地中海贫血基因检测,包括α-地贫的3种缺失型(--SEA/αα、-α4.2/αα、-α3.7/αα、)、3种突变型(-ααCS/αα、-ααQS/αα、-ααWS/αα)及β-地贫的17种突变位点.结果:1056例样本中共检出α、β-地贫330例,检出率为31.3％.其中,α-地贫168例(15.9％),β-地贫161例(15.3％),αβ复合突变1例(0.1％).在330例确诊地贫样本中,α-地贫168例,构成比50.9％,有6种亚型:--SEA/αα、-α4.2/αα、-α3.7/αα、-ααCS/αα、-ααQS/αα、--SEA/-α3.7,以--SEA/αα(72.6％)、-α3.7/αα(17.9％)为主,占α-地贫的90.5％;β-地贫161例,构成比8.8％,有6种类型:CD17、CD41-42、-28、-29、IVS-II 654、CD41-42/-29,其中最常见的3种突变类型为:CD17(50.3％)、CD41-42(31.1％)及IVS-II 654(14.3％),占β-地贫的95.7％;α复合β-地贫1例(0.3％),基因型为-α3.7/αα复合βIVS-II-654M.1056例受检者中,男性369例,检出地贫90例(24.4％),女性687例,检出地贫240例(34.9％),女性地贫基因检出率明显高于男性,差异具有统计学意义(χ2=12.423,P=0.001).结论:四川南充地区是地中海贫血高发地区之一,α-地贫最常见的基因型为--SEA/aa,β-地贫以17M突变型最常见.     

Value of D-Dimers in patients with acute aortic dissection

Objective: To evaluatel the value of D-dimers in patients with acute aortic dissection (AAD). Methods: This study consisted of 16 patients with AAD and 27 non-AAD patients. Serum D-dimets were measured by Sta-Liatest D-DI immunoturbidimetric assay. Results: D-dimer level was higher (P ＜ 0.001) in patients with AAD(7.91 ± 5.52 μg/ml) than that in non- AAD group(1.57±1.24 μg/ml). D-dimer was positive (＞0.4 μg/ml) in all patients with AAD and in 10 control group patients (37%). Among patients with acute AAD, D-dimers tended to be higher in Stanford A than in Stanford B (8.67 ± 4.31 μg/ml vs. 3.24±1.27 μg/ml, P ＜0.01). D-dimer values tended to be higher in more extended disease(3.84 ± 1.65 μg/ml, 8.57 ± 3.58 μg/ml and 11.87 ± 5.69 μg/ml in thoracic aorta, thoracic and abdominal aorta, thoracic and abdominal aorta and iliacal arteries, respectively, P ＜ 0.05 for both 8.57 ± 3.58 and 11.87 ± 5.69 vs. 3.84 ± 1.65 ). Including the control group into the analysis, we found a sensitivity of 100%, a negative predictive value of 100%, and a specificity of 66% and a positive predictive value of 64% for D-dimer in diagnosis of AAD in our patients with suspected AAD. Conclusion: D-dimer was elevated in patients with AAD. A negative D-dimer test result could be useful in excluding AAD.     

Research of combined liver-kidney transplantation model in rats

Objective： To set up a simple and reliable rat model of combined liver-kidney transplantation. Methods： SD rats served as both donors and recipients. 4℃ sodium lactate Ringer＇s was infused from portal veins to donated livers,and from abdominal aorta to donated kidneys, respectively. Anastomosis of the portal vein and the inferior vena cava （IVC） inferior to the right kidney between the graft and the recipient was performed by a double cuff method, then the superior hepatic vena cava with suture. A patch of donated renal artery was anastomosed to the recipient abdominal aorta. The urethra and bile duct were reconstructed with a simple inside bracket. Results： Among 65 cases of combined liver-kidney transplantation, the success rate in the late 40 cases was 77.5%. The function of the grafted liver and kidney remained normal. Conclusion： This rat model of combined liver-kidney transplantation can be established in common laboratory conditions with high success rate and meet the needs of renal transplantation experiment.     

APPLICATION OF LORNOXICAM TO PATIENT-CONTROLLED ANALGESIA IN PATIENTS UNDERGOING ABDOMINAL SURGERIES

FOR anesthesiologis s ,treatingpostoperativepainhas alwaysbeen a problem.Althoughopioidshave been provedtobe effective,theirsideeffectscouldnotbeignored.With thedevelopmentofscienceand pharmacology,many drugs with aspectsof satisfactoryanalgesicefficacyand couldbe welltoleratedby patientshave been developed.And lornoxicamisone of them, which isa non-steroidalanti-inflammatorydrug (NSAID ), with analgesic, anti-infl-ammatory,andantipyreticproperties.Itseliminationhalf-time(3 to 5 hours) isle…     

BLOOD PRESSURE CHANGE WITH AGE IN SALT-SENSITIVE TEENAGERS

Objective To observe blood pressure change with age in salt-sensitive teenagers whose salt sensitivity were determined by repeated testing.Methods Salt sensitivity was determined through intravenous infusion of normal saline combined with volume-depletion by oral diuretic furosemide in 55 teenagers. After five years, salt sensitivity was re-examined and subject blood pressure was followed up. Blood pressure changes in salt-sensitive teenagers were compared to that of non-salt sensitive teenagers over five years.Results After 5 years, the repetition rate of salt sensitivity determined by intravenous saline loading is 92.7%. In teenagers with salt sensitivity on the baseline, both the systolic blood pressure increments and increment rates were much higher than non-salt sensitive teenagers (12.7±12.1 mmHg vs. 2.8±5.2 mmHg, P＜ 0.01; 12.2%± 12.0% vs. 2.5% ±4.4%, P＜ 0.001,respectively). There was a similar trend for diastolic blood pressure (8.4 ± 6.4 mmHg vs. 3.7 ± 6.4 mmHg, P = 0.052; 13.2% ±10.6 % vs. 6.8%± 10.1%, P = 0.053, respectively).Conclusions Salt sensitivity determined by intravenous saline loading showed good reproducibility. Blood pressure increments with age were much higher in salt-sensitive teenagers than non-salt sensitive teenagers, especially in terms of systolic blood pressure.     

Development on Adjustable Calibration Marker for Shock Wave Focus

Shock wave lithotripsy （SWL） is a treatment of choice for upper urinary stones. However, this procedure is inappropriate for obese patients because the focus is often unable to reach the target owing to the limited focal distance in shock wave source. Although treating such patients in a blast path may increase the application length of shock wave source, it＇s difficult to find this path on the lithotripter monitor. For this reason, we invented an adjustable calibration marker in order to set an effective focus in the shock wave hath.     

Study on the TCM Pathogenesis of Angiopathic Complications of Type II Diabetes

Excess production of reactive oxygen species(ROS)of mitochondrion mediated by hyperglycemia is the common pathogenesis of angiopathic complications of diabetes.TCM holds that the damp from the dysfunction of spleen.kidney and liver is the causative factor of complications of diabetes.This is similar to the mechanism of Ros resulting in angiopathic complications of diabetes.When the angiopathic complications of type II diabetes mellitus(T2DM)are difierentiated as caused by turbid damp in TCM can be explained as ROS.Since the obstruction of pathogenic damp in channels and collaterals is said to be the main pathogenesis,the treating principle should be dissolving the damp to remove the obstruction.     

Leptin, Ghrelin and TNF-α before and after Hypo-caloric Traditional Chinese Diet and Auricular Acupuncture

INTRODUCTION Obesity is a complex emergent problem, which can be possibly solved not only by the diet but also by the life style and promotion of a constant physical exercise. 1, 2 No doubt careful attentions must be given to the nutritional condition of obese people, the dietary habits, the somatic build (i.e. distribution of fat mass) and the organic functions linked to formation of the fat mass. All the parameters should be constantly monitored before, during and after a diet treatment. 3, 4, 5     

Relationship between Dysglycemia and Carotid Atherosclerosis in Tibetan Population

People with dysglycemia are at high risk for atherosclerotic diseases. This study aims at investigating the atherosclerotic vascular damage in dysglycemia and its metabolic origin in Tibetan population.     

Acupuncture Combined with Spinal Tui Na for Treatment of Primary Dysmenorrhea in 30 Cases

Objective: To observe the therapeutic effects in acupunture treatment of primary dysmenorrhea combined with spinal Tui Na, and study its mechanism. Methods: Thirty cases of the treatment group were treated by acupuncture combined with spinal Tui Na, and thirty cases in the control group were treated by routine acupuncture. Results: The total effective rate was 93.3% in the treatment group, and 73.3% in the control group, with a significant difference between the two groups (P<0.05). Conclusions: Acupuncture combined with spinal Tui Na has good prospects for treatment of primary dysmenorrhea.     

Luo Lingjie's Experience in Treating Chronic Nephropathy

In treating chronic nephropathy,Luo Lingjie,a chief physician,pays attention to regulating the balance between yin and yang,treating infection if present,and removing pathogenic factors.He prescribes gentle drugs and uses carefully strongly warming-tonifying ones,emphasizes the importance of persuading the patient to persist in treatment with medication and nurse one's health for recuperation,and is good at combined use of TCM and western medicine therapy and brings the merits of various therapies into full play,with obvious theraoeutic effects.