达到血吸虫病传播阻断标准10年后人群病情监测和评价

目的探讨达到血吸虫病传播阻断标准(以下简称达标)10年后人群血吸虫病病情,评价其防治效果和今后防治策略。方法对达标10年地区采用ELISA法检测人群血清抗血吸虫抗体水平,并用改良Kato-Katz法粪检血吸虫卵,进行定量观察和比较。结果达标10年地区人群粪检未查到血吸虫虫卵(0/3440),血清抗血吸虫抗体阳性率为3.50%(132/3770),男性和女性分别为4.36%(78/1788)和2.72%(54/1982),人群抗血吸虫抗体OD均值为0.068±0.056,其中男性为0.072±0.058,女性为0.065±0.054,前者显著高于后者(P<0.01);6~20岁,21~35岁,36~50岁和51~65岁年龄组抗血吸虫抗体阳性率分别为0.33%(2/609)、0.55%(4/731)、3.79%(53/1399)和7.08%(73/1031),抗血吸虫抗体OD均值分别为0.048±0.030、0.052±0.032、0.071±0.060和0.087±0.068,除6~20岁与21~35岁年龄组在抗体阳性率和抗体OD均值方面无显著性差异外(P>0.05),其余各年龄组抗体水平在统计学上均有非常显著性差异(P<0.01)。结论达标10年地区人群血吸虫病情稳定,未发现粪检阳性病人,但人群抗血吸虫抗体水平消减缓慢,在一定时期仍长期存在,且不同性别及年龄人群抗体水平仍与其暴露于原危险因素的机率有关,建议在加强输入性传染源和钉螺监测的同时加强对历史病人的清查和治疗。     

晚期丝虫病患者血清特异性抗体及抗体亚型的分析

目的评价晚期丝虫病患者血清抗丝虫抗体及抗体亚型的免疫学特性.方法用马来丝虫成虫和微丝蚴抗原,以ELISA法检测120份血清标本抗丝虫特异性抗体和抗体亚型,FPT方法进行丝虫皮内试验.结果病原学检查120份受试者均为非微丝蚴血症.80例晚期丝虫病患者FPT试验阳性率为95%(76/80),晚期丝虫病患者血清抗微丝蚴和成虫特异性抗体阳性率分别为82.5%(66/80)和80%(64/80).流行区对照抗体阳性率为10%(2/20),非流行区正常人则均为阴性.晚期丝虫病患者血清抗体亚型以IgG2为主,阳性率92.5%,其它亚型分别为IgG11.25%、IgG322.5%、IgG46.25%.结论晚期丝虫病患者血清中存在抗丝虫特异性抗体,抗体亚型主要是IgG2,它也可能是晚期丝虫病患者特异的抗体亚型.     

广西壮族自治区嗜人按蚊残存分布区2000-2009年疟疾监测结果分析

目的 分析广西残存嗜人按蚊分布区近10年疟疾发病特点、监测结果及其评价,为疟疾防治后期的监测与控制提供科学依据.方法 收集2000-2009年广西嗜人按蚊分布区15个县(市)当地居民发热患者、外出回归农民工、外来人员的疟疾监测资料,分析疟疾感染率和病例分布,对媒介和间接免疫荧光法(indirect immunofluorescence assay,IFA)检测资料进行描述和分析.结果 嗜人按蚊分布区15县共血检常住居民发热患者152.50万人次,病灶点居民5.85万人次,外出回归农民工3.82万人次,外来人口5.45万人次,4类人群血检阳性率依次为0.0079%(120/1 525 031)、0(0/58 502)、0.6902%(264/38 252)和0.1926%(105/54 516);共检出疟疾患者489例,本地感染病例占24.52%(120/489),外出回归感染病例占53.99%(264/489),外来病例占21.47%(105/489).环江县嗜人按蚊占按蚊总数的3.32%(227/6 832),重点人群IFA检测抗体阳性率为0.092%(49/53 112).结论 广西嗜人按蚊分布区疟疾发病率控制在1/万以下,当地传播病例主要分布在环江、南丹、融水、三江和上思等5县,输入性病例15县均有分布.人群抗体水平与疟疾流行程度一致.     

广西壮族自治区嗜人按蚊残存分布区2000-2009年疟疾监测结果分析

目的 分析广西残存嗜人按蚊分布区近10年疟疾发病特点、监测结果及其评价,为疟疾防治后期的监测与控制提供科学依据.方法 收集2000-2009年广西嗜人按蚊分布区15个县(市)当地居民发热患者、外出回归农民工、外来人员的疟疾监测资料,分析疟疾感染率和病例分布,对媒介和间接免疫荧光法(indirect immunofluorescence assay,IFA)检测资料进行描述和分析.结果 嗜人按蚊分布区15县共血检常住居民发热患者152.50万人次,病灶点居民5.85万人次,外出回归农民工3.82万人次,外来人口5.45万人次,4类人群血检阳性率依次为0.0079%(120/1 525 031)、0(0/58 502)、0.6902%(264/38 252)和0.1926%(105/54 516);共检出疟疾患者489例,本地感染病例占24.52%(120/489),外出回归感染病例占53.99%(264/489),外来病例占21.47%(105/489).环江县嗜人按蚊占按蚊总数的3.32%(227/6 832),重点人群IFA检测抗体阳性率为0.092%(49/53 112).结论 广西嗜人按蚊分布区疟疾发病率控制在1/万以下,当地传播病例主要分布在环江、南丹、融水、三江和上思等5县,输入性病例15县均有分布.人群抗体水平与疟疾流行程度一致.     

1998年云南省疟疾血清学监测结果分析

目的 1998年采用间接荧光抗体试验(IFAT)在云南省不同疟疾流行区,不同发病率分层地区进行监测,方法 16个县(市)8 575份滤纸干血滴,按IFAT实验常规方法操作.结果边境地区、元江流域、滇东北地区、基本消灭疟疾县抗体阳性率分别为6.33%,2.44%,2.02%,0.82%;阳性GMRT分别为50.12,26.92,28.64,26.92;1: 80～1: 1 280高滴度人群分别占32.99%,8.70%,12.90%,8.33%.抗体阳性率的高低与发病率升降相一致;高年龄组抗体阳性率是低年龄组的2.2倍;发病率在10/万以上地区抗体阳性率明显高于其它地区(χ2=416.85, P＜0.005 ,其余三者间无差别(χ2=6.612,P>0.05).结论各不同地理区域间抗体水平与疟疾传播强度呈水平关系;各地15岁以下低龄组抗体阳性率在5%以下,说明疟疾降至低度或得到有效控制,但尚未阻断传播;在发病率1/万以下县(市)中出现抗体阳性率4.38%的县,说明疟疾病例存在明显的漏诊、漏报、漏治现象.IFAT能客观反映当地疟疾感染情况.     

ELISA检测白血病和淋巴瘤患者弓形虫抗体阳性率

ELISA检测贵州省白血病和淋巴瘤患者各150例血样中弓形虫特异性抗体(Ig G、Ig M)和循环抗原(CAg),计算阳性率。PCR扩增弓形虫529 bp特异性片段。结果显示,白血病患者弓形虫Ig G和Ig M抗体阳性率分别为16.0%(24/150)和2.7%(4/150),CAg阳性率为2.0%(3/150)。淋巴瘤患者弓形虫Ig G和Ig M抗体阳性率分别为20.0%(30/150)和1.3%(2/150),CAg阳性率为0.7%(1/150)。健康人Ig G和Ig M抗体阳性率分别为6.4%(7/110)和0.9%(1/110),CAg阳性率为0.9%(1/110)。白血病患者、淋巴瘤患者和健康人之间弓形虫Ig G抗体阳性率差异有统计学意义(P0.05),白血病和淋巴瘤患者间Ig G抗体阳性率差异无统计学意义(P0.05);弓形虫Ig M抗体和CAg阳性率在各组间差异均无统计学意义(P0.05)。白血病患者、淋巴瘤患者和健康人血样中均未扩增出529 bp特异性条带。     

四种抗原用于Dot-IGSS和Dot-ELISA诊断日本血吸虫病的比较

以日本血吸虫可溶性成虫抗原(AWA)、尿素溶解性成虫抗原(JWU)、硫酸铵沉淀成虫抗原(AW)和可溶性虫卵抗原(SEA),用斑点免疫金银染色试验(Dot-IGSS)和Dot-ELISA诊断日本血吸虫病.结果显示:Dot-IGSS法,4种抗原分别检测50例日本血吸虫病人血清,抗体检出率均达100.0%,50例正常人阴性符合率98.0%—100.0%,与肝吸虫病人的交叉反应率0%—2.0%(P>0.05),Dot-ELISA法、AWA、AW和SEA阳性符合率均为100.0%,JWU为90.0%,低于其它抗原(P<0.05),与正常人阴性符合率及肝吸虫病人交叉反应率分别为94.0%—100.0%及0%—6.0%.各抗原检出抗体滴度,Dot-IGSS均高于Dot-ELISA(P<0.05—0.01).抗原浓度在500.0μg/ml,两法抗体检出结果无差异(100.0%),至6.25μg/ml,酶标法检出率为0,而金标法仍为70.0%—80.0%(P<0.01).     

贵州省幽门螺杆菌临床菌株的分离培养

目的:分离培养贵州省幽门螺杆菌(Helicobacterpylori,H pylori)的临床菌株,并探讨临床菌株成功分离培养患者的一般资料.方法:收集因上消化道症状就诊于我院行胃镜检查的患者98例,取胃窦黏膜经转运、接种、培养、鉴定、传代、增茵及分离培养 H pylori.分析比较H pylori培养阳性患者在不同民族、取材部位、病种、性别及有无胃炎家族史等差异.结果:98例患者37例分离出H pylori临床菌株,阳性率38%.汉族标本培养阳性率为36%,少数民族标本为44%,2组无显著差异.其中苗族组培养阳性率为100%(4/4),与汉族组比较显著升高(P<0.05).慢性胃炎伴糜烂及消化性溃疡患者培养阳性率分别为39%(11/28)、46%(24/52),较单纯胃炎及胃癌患者显著增高(均P<0.05).30-60岁年龄段培养阳性率较60-80岁显著升高(45% vs 21%,P<0.05).男性患者培养阳性率较女性显著提高(48%vs24%,p<0.05).有胃炎家族史患者培养阳性率与无胃炎家族史患者比较无显著差异.结论:本研究系我省首次成功分离出H pylori临床菌株,为贵州省pylori基础及临床的研究奠定了基础.     

原发性胆汁性肝硬化患者自身抗体测定的意义

目的:探讨自身抗体测定对诊断原发性胆汁性肝硬化(PBC)的临床意义.方法:PBC患者52例和非PBC患者202例,其中包括自身免疫性肝炎(AIH)41例,原发性硬化型胆管炎(PSC)18例,乙型肝炎(HBV)89例,丙型肝炎(HCV)54例以及健康体检者40例,采用间接免疫荧光法(IIF)检测抗核抗体(ANA)、抗平滑肌抗体(SMA)、抗线粒体抗体(AMA)、抗心肌抗体(HRA)、抗骨骼肌抗体(ASA)、抗胃壁细胞抗体(PCA)、抗双链DNA(ds-DNA)抗体、抗肝肾微粒体抗体(LKM)、抗可溶性肝抗原(SLA)抗体和抗中性粒细胞胞质抗体(ANCA)等自身抗体,ELISA法检测抗髓过氧化酶抗体(MPO),并对其结果进行回顾性分析.结果:PBC患者中AMA阳性例数最高为46例(88.5%),ANA阳性率为71.2%(37/52);非PBC患者中阳性例数则分别为20例(9.9%)和51例(25.2%),两组比较,有非常显著性意义(P<0.01).AMA、SMA抗体检测在PBC与AIH患者中,均有非常显著性意义(P<0.01).但两组之间的ANA阳性率无显著性意义(P>0.05).PSC患者18例ANA阳性6例,AMA阳性7例均低于PBC患者.HBV,HCV感染患者检测ANA阳性率分别只有9.0%和22.2%;AMA阳性率也只有7.9%和3.7%,与PBC患者比较均有显著性差异(P<0.01).PBC患者及对照组检测ds-DNA,ANCA,LKM,SLA和MPO抗体结果显示PBC患者检测最高的ANCA阳性率为26.9%(14/52),其次是MPO阳性率为25.0%(13/52),与AIH比较,均有非常显著性意义(P<0.01).结论:血清自身抗体的检测对诊断、治疗和阻止原发性胆汁性肝硬化的发展有着十分重要作用.对提高PBC同其他疾病鉴别诊断和治疗有着非常重要的意义.     

血吸虫 疟疾 丝虫三联抗原片免疫酶染试验对三病监测的研究

PVC三联抗原片免疫酶染试验(IEST)系在PVC薄膜同一个三角形的凹井内,联合包被血吸虫尾蚴、恶性疟原虫和丝虫微丝蚴断片,用同一种免疫酶染技术以一滴血清同时检测3种寄生虫病抗体的检测方法。结果:血吸虫病环卵沉淀试验阳性者的检出率为95.74％,间日疟原虫血检阳性者的检出率为89.10％,历史丝虫微丝蚴阳性者的检出率为82.61％,99例健康者出现血吸虫阳性3例(3.03％),疟疾和丝虫阳性各1例(1.01％),经X~2检验,3种抗原各自对3病检测的特异性有非常显著意义(P<0.01)。 该法与3病常用血清学方法对1380例外来人口的监测比较和对4841例不同疫区人群的3病现场监测应用结果,均能反映各组人群的实际流行概貌。     

Concealed ventricular premature complexes in a population sample

One hundred fifty patients were analyzed with a random sample of patients whose Holter recordings indicated ventricular premature complexes (VPCs). Thirty-five patients (23%) had more than 30 VPCs/hour. Of these 35 patients, 19 had concealed VPCs. This represents 54% of the patients with more than 30 VPCs/hour and 13% of the total sample of 150 patients with VPCs. The most common type of concealed VPCs was the classic concealed bigeminy (S = 2n - 1), which was found in 10 of 19 patients (52%) whose electrocardiograms and patterns were characteristic of concealed VPCs. This was followed by the "even variant" 2n in 5 patients (26%), concealed trigeminy (S = 3n - 1) in 1 (5%), the 3n - 2 variant in 1 (5%) and the "interpolated variant" of 1 + (2n - 1) in 1 (5%). One patient showed a conversion from 2n - 1 to 2n.     

Diisocyanate antigen-stimulated monocyte chemoattractant protein-1 synthesis has greater test efficiency than specific antibodies for identification of diisocyanate asthma

We previously reported that diisocyanate-human serum albumin (DIISO-HSA) stimulated production of monocyte chemoattractant protein-1 (MCP-1) by peripheral blood mononuclear cells is significantly associated with a clinical diagnosis of diisocyanate asthma (DA). Others have reported that antibodies for DIISO-HSA are specific but insensitive markers of DA. This study was performed to evaluate test characteristics of the in vitro MCP-1 assay compared with DIISO-HSA-specific immunoglobulin (Ig) G and IgE in identifying workers with DA. MCP-1 was quantitated in peripheral blood mononuclear cell supernatants 48 hours after incubation with DIISO-HSA antigens. Assay results were compared with outcomes of specific inhalation challenge (SIC) testing. Nineteen of 54 (35%) workers assayed for antibodies and MCP-1 stimulation had SIC-confirmed DA. Mean MCP-1 produced by SIC-positive workers was greater than SIC-negative workers (p < or = 0.001). Diagnostic sensitivity, specificity, and test efficiency for specific IgG were 47%, 74%, and 65%, respectively, and for specific IgE were 21%, 89%, and 65%, respectively. Sensitivity, specificity, and test efficiency of the MCP-1 test were 79%, 91%, and 87%, respectively. This study indicates that the MCP-1 stimulation assay has greater sensitivity and specificity than the specific antibody assays in correctly identifying DA.     

Intensive chemotherapy followed by allogeneic or autologous stem cell transplantation for patients with myelodysplastic syndromes (MDSs) and acute myeloid leukemia following MDS

This study investigated the feasibility of allogeneic (alloSCT) and autologous stem cell transplantation (ASCT) as postconsolidation therapy for patients with myelodysplastic syndromes (MDSs) or acute myeloid leukemia after MDS. Patients with a histocompatible sibling were candidates for alloSCT and the remaining patients for ASCT. Remission-induction therapy consisted of 1 or 2 courses with idarubicin, cytarabine, and etoposide, followed by one intensive consolidation course with cytarabine and mitoxantrone. Initially, bone marrow cells were used for ASCT. Subsequently, mobilized blood stem cells were used in an attempt to shorten posttransplantation hypoplasia. With a median follow-up of 3.6 years the 184 evaluable patients showed a 4-year survival rate of 26% and a median survival of 13 months. The remission-induction chemotherapy induced complete remission (CR) in 100 patients (54%). The 4-year disease-free survival (DFS) rate was 29% and the median DFS was 12 months. Twenty-eight of 39 patients (72%) with a donor were allografted in CR-1, including 2 patients who underwent transplantation in CR-1 without a consolidation course. Thirty-six of 59 patients (61%) without a donor received ASCT in CR-1. The 4-year DFS rates in the group of patients with or without a donor were 31% and 27%, respectively. The 4-year survival rates from CR were 36% and 33%, respectively. This large prospective study shows the feasibility of both alloSCT and ASCT. This treatment approach leads to a relatively high remission rate, and the majority of patients in remission received the SCT in CR-1. The ongoing study investigates whether this approach is better than treatment with chemotherapy only.     

Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1

Multiple endocrine neoplasm type 1 (MEN1) is associated with parathyroid, pancreatic, and pituitary tumors. Although most patients present with hyperparathyroidism, the diagnosis can be difficult, because a significant proportion present with other endocrinopathies or may lack a family history, and other MEN1 manifestations may be mild. Recently, multiple cutaneous lesions (angiofibromas and collagenomas) were reported to be frequent in MEN1 patients, and it was proposed that their discovery suggested the diagnosis of MEN1. The purpose of this study was to prospectively assess the frequency and sensitivity/specificity of various cutaneous criteria for MEN1 in 110 consecutive patients with gastrinomas with or without MEN1. All patients had hormonal and functional studies to determine MEN1 status (48 with MEN1, 62 without MEN1), dermatological evaluation, and tumor imaging studies. Angiofibromas and collagenomas were more frequent in MEN1 patients (64% vs. 8% and 62% vs. 5%; P < 0.00001) and were multiple in 77-81% of the MEN1 patients. Lipomas occurred in 17%. The presence of these skin lesions did not correlate with age, disease duration, or other MEN1 features. Angiofibromas or collagenomas (single or multiple) had 50-65% sensitivity for MEN1 and 92-100% specificity. The combination criterion of multiple angiofibromas (more than three) and any collagenomas had the highest sensitivity (75%) and specificity (95%). This criterion has greater sensitivity than pituitary or adrenal disease and is comparable to hyperparathyroidism in some studies of patients with MEN1 with gastrinoma. This criterion should have sufficient sensitivity/specificity to be clinically useful.     

1-Year Outcomes of Fluoropolymer-Based Drug-Eluting Stent in Femoropopliteal Practice: Predictors of Restenosis and Aneurysmal Degeneration

ObjectivesThis study aimed to investigate the 1-year risk of restenosis and aneurysmal degeneration and explore the associated factors after femoropopliteal implantation of fluoropolymer-based drug-eluting stents (FP-DESs) for symptomatic atherosclerotic peripheral artery disease in real-world practice.BackgroundAlthough clinical trials have demonstrated that FP-DES implantation has favorable 1-year outcomes, its performance in real-world practice has not been well elucidated.MethodsThis multicenter, prospective, observational study evaluated 1,204 limbs (chronic limb-threatening ischemia: 34.8%, mean lesion length: 18.6 ± 9.9 cm, chronic total occlusion: 53.2%, bilateral wall calcification: 41.9%) of 1,097 patients with peripheral artery disease (age: 75 ± 9 years, men: 69.4%, diabetes mellitus: 60.8%, chronic kidney disease: 66.2%) undergoing Eluvia (Boston Scientific) drug-eluting stent implantation for femoropopliteal lesions. The primary outcome measure was 1-year restenosis, whereas the secondary outcome measures were 1-year occlusive restenosis, stent thrombosis, target lesion revascularization, and aneurysmal degeneration.ResultsThe 1-year occurrence rates of restenosis (12.9%), occlusive restenosis (9.2%), stent thrombosis (3.3%), target lesion revascularization (6.2%), and aneurysmal degeneration (16.8%) were found. Multivariate analysis demonstrated that dialysis, chronic limb-threatening ischemia, history of revascularization, a smaller reference vessel diameter, chronic total occlusion, and spot stenting were significantly associated with an increased risk of 1-year restenosis, whereas intravascular ultrasound use and subintimal wire passage were significantly associated with an increased risk of 1-year aneurysmal degeneration.ConclusionsThis study documented the 1-year clinical outcomes after femoropopliteal endovascular therapy with FP-DES implantation in real-world practice. The 1-year restenosis rate would be clinically acceptable, whereas the occurrence of occlusive restenosis and aneurysmal degeneration should be noted.     

Cocaine-induced respiratory depression and seizures are synergistic mechanisms of cocaine-induced death in rats.

STUDY OBJECTIVE: To determine if respiratory depression is an important mechanism of cocaine-induced death in conscious rats. DESIGN: Male Sprague-Dawley rats weighing between 200 and 300 g and fitted with cortical electrodes were pretreated intraperitoneally with either saline (vehicle), MK-801, or valproic acid for 30 minutes before challenge with 70 mg/kg IP cocaine followed by spontaneous breathing or mechanical ventilation after acute tracheostomy. Behavior, seizures, death, EEGs, and ECGs were observed and measured. MEASUREMENTS AND MAIN RESULTS: In group 1, animals received saline followed by cocaine. The incidence rates of seizures and death were 92% and 83%, respectively. Group 2 received saline followed by cocaine and then were ventilated mechanically through an acute tracheostomy after respiratory arrest (late mechanical ventilation). This group experienced seizures in 100% and death in 67% of animals. Group 3 also received saline followed by cocaine but were ventilated mechanically immediately after the first seizures (early mechanical ventilation). They had experienced seizures in 100% and death in 30%, the latter being significantly (P less than .025) reduced compared with group 1. In group 4, an anticonvulsant (1 mg/kg MK-801) was given before cocaine challenge, resulting in seizures in 10% (P less than .002 compared with group 1) and death in 90%. Group 5 received MK-801 followed by cocaine and then were ventilated mechanically after respiratory arrest (late mechanical ventilation). They experienced seizures in 20% (P less than .002 compared with group 1), and no animals in this group died (P less than .002 compared with group 1 or 4). Group 6 received an anticonvulsant (400 mg/kg valproic acid), followed by cocaine. This resulted in seizures in 20% (P less than .002 compared with group 1) and death in 90%. Group 7 received valproic acid followed by cocaine and then were ventilated mechanically (late mechanical ventilation). They experienced seizures in 30% (P less than .002 compared with group 1), and all animals survived (P less than .002 compared with group 1 or 6). CONCLUSION: Early mechanical ventilation reduces cocaine toxicity. Control of seizure activity with specific anticonvulsants allows delayed mechanical ventilation to protect against cocaine toxicity. This suggests that respiratory depression in conjunction with seizure activity plays a major role in the mechanisms of cocaine-induced death in this model.     

The degree of matching at HLA-DPB1 predicts for acute graft-versus-host disease and disease relapse following haematopoietic stem cell transplantation

The importance of matching for HLA-DPB1 in unrelated donor haematopoietic stem cell (HSC) transplantation is little understood. Most transplant centres do not, currently, prospectively match for DPB1, but emerging data show that DPB1 matching does play a role in determining outcome. We studied the impact of HLA-DPB1 matching on outcome in 143 recipients of T-cell depletion transplants, who matched with their respective unrelated donors (allelic level) at HLA-A, -B, -C, -DRB1 and -DQB1. Of those matched at DPB1, 47.2% (17/36) developed acute graft-versus-host disease (aGvHD) as compared to 66.3% (55/83) of those who were mismatched. This led to a 19.1% (95% CI 0.1-38.3%) increase in the chance of developing aGvHD in mismatched patients (P=0.049). Relapse of the original disease occurred in 51 recipients; 23 of 37 (62%) matched at both DPB1 alleles, 28 of 82 (34%) were mismatched at one or two DPB1 alleles. Thus, there was a significantly higher relapse rate (P=0.0011) in transplant recipients who matched at both DPB1 alleles. In conclusion, a donor/recipient DPB1 match was associated with a significantly lower incidence of aGvHD and a significantly higher incidence of disease relapse. This study provides further evidence for an immunogenic role of HLA-DPB1 in HSC transplants.     

ARE THERE GENETIC DETERMINANTS FOR THE GLUCOSE INTOLERANCE OF ACROMEGALY?

A genetic marker identifying the two parental insulin genes has been studied in 51 Caucasian acromegalics by Southern blot hybridization techniques using a cloned insulin gene probe. Two main DNA insertion classes were detected corresponding to the class 1 and class 3 alleles and thus the following genotypes were found: 1/1, 1/3 and 3/3. The acromegalics were subdivided depending on whether they had a normal (n = 30) or abnormal (n = 21) response to a 50 gm oral glucose tolerance test before treatment. The phenotype frequencies in the former group were 1/1, 43%; 1/3, 53%; and 3/3, 4%; and in the latter group the corresponding figures were 76%, 24% and 0%. The relative incidence of concordance of the phenotype 1/1 with abnormal glucose tolerance in acromegaly was 4.2. This phenotype is also associated with insulin dependent (Type 1) diabetes mellitus.     

Homozygous single nucleotide polymorphism of the complement C1QA gene is associated with decreased levels of C1q in patients with subacute cutaneous lupus erythematosus

We report an association between a non-familial form of photosensitive Lupus-specific skin disease, subacute cutaneous lupus erythematosus (SCLE), and a new single nucleotide polymorphism (SNP) in the C1QA gene. We also describe an association between this SNP and lower levels of serum C1q. This SNP consists of adenine replacing the third guanine in the codon for aminoacid residue Gly70 (position excludes the 22 amino acid leading peptide) that is located in the second exon of the C1QA gene. We have designated this SNP C1qA-Gly70GGA (the GenBank sequence at this location is C1qA-Gly70GGG). A survey of 19 SCLE patients showed that 11 (58%) were homozygous for C1qA-Gly70GGA SNP, seven (37%) were heterozygous, and only one patient (5%) was homozygous for the GenBank sequence. In contrast, only 13 of 62 (21%) normal controls were homozygous for the C1qA-Gly70GGA SNP, 41 (66%) controls were heterozygous and eight (13%) controls were homozygous for the GenBank sequence. Thus, the C1qA-Gly70GGA SNP is strongly associated with SCLE (P-value = 0.005 by chi-square analysis with Yates correction). This SNP would traditionally be classified as clinically silent as it does not encode a different amino acid. However, our studies have suggested that this SNP appears to be associated with a functional abnormality of C1q expression since its presence correlates inversely with serum levels of C1q antigenic protein in both SCLE patients and normal controls. The mechanism by which this phenotypic change is associated with the translationally silent (synonymous) ClqA-Gly70GGA genetic variation is currently unknown.     

Gastric Emptying in Spinal Cord Injury Patients

Prolonged gastric emptying half-time (GET1/2)has been observed in several neurological disorders.However, findings of altered gastric emptying (GE) inprevious studies on subjects with spinal cord injuries (SCI) have been questioned. Thus, GET1/2 ofsolid meals in SCI patients was studied by radionuclideimaging. This prospective study was conducted to assessGET1/2 in 50 SCI patients using radionuclide labeled solid meals. GET1/2 was abnormal in 58% of the50 SCI patients. Age (abnormal GET1/2 in 57% of young vs59% of old patients) and injury duration (abnormalGET1/2 in 61% of long vs 56% of short duration patients) were not statistically significantfactors influencing GET1/2 (P > 0.05). However, theincidences of abnormal GET1/2 in female SCI patients(57%) and patients with high level injury (quadriplegic) (83%) were higher than in male SCI patients(47%) and patients with low level injury (paraplegic)(35%) (P < 0.05). SCI can cause significant prolongedGE of a solid meal, especially in female patients and patients with high level injury.