Role of the 2 adenine (g.11293_11294insAA) insertion polymorphism in the 3' untranslated region of the factor VII (FVII) gene: molecular characterization of a patient with severe FVII deficiency

Polymorphic variants in the gene encoding factor VII (F7) affect the plasma levels of this coagulation protein and modify the clinical phenotype of FVII deficiency in some patients. In this study we report the in vitro functional analysis of a novel polymorphic variant located in the 3' untranslated region of F7: g.11293_11294insAA. To determine whether this variant regulates FVII expression, we initially compared an expression vector containing FVII cDNA with g.11293_11294insAA with the FVII wild-type (WT) construct. The kinetics of mRNA production showed that the insertion decreases the steady-state FVII mRNA levels. To assess whether the insertion influences the phenotype of FVII-deficient patients, we evaluated its effect on the expression of FVII in a patient with severe FVII deficiency (undetectable FVII activity and antigen) carrying two additional homozygous missense variations (p.Arg277Cys and p.Arg353Gln). The two substitutions alone reduced the expression of FVII activity and antigen in vitro, but with the insertion polymorphism in our expression vector the patient's phenotype of undetectable plasma FVII was recapitulated. The insertion polymorphism in the 3' untranslated region of F7 is another modifier of FVII expression that might explain the poor genotype-phenotype correlation in some FVII-deficient patients.     

充满型及非充满型胆囊结石粘膜病理形态及核仁组成区的研究

目的：探讨充满型及非充满型胆囊结石粘膜组织病理学的差异及相应外科治疗措施,方法：收集1995年10月至1996年10月期间的胆囊结石标本做常规病理染色及嗜银蛋白染色分析。结果：发现充满型及非充满型结石组胆囊粘膜不典型发生率及AgNOR数目均有显著差异。结论：一经诊断为充满型胆囊结石,特别是中老年肥胖妇女,应早期手术切除病变胆囊。     

松果体区病灶直线加速器放射外科的剂量分布探讨

通过运用仿真人体模型对松果体区靶病灶直线加速器多聚弧照射的监测，论证直线加速器作为放射外科工具治疗颅内病变的科学性，探讨有关辐射参数对剂量分布的影响。作者认为，直线器放射外科可实现与伽玛马相似的剂量分布，同是神经外科安全有效的治疗技术，准直器孔径越小，照射范围越大，则剂量梯度即越大，剂量分布越理想；靶区最大剂量对上器孔径有相当高的依赖性，本文还就合理的照射弧范围及边缘处方剂量作了讨论。     

Studies an morphological typing of argyrophilic nucleolar organizer regions

Morphological typing of argyrophilic nucleolar organizer regions (AgNOR) in 300 caws of malignant tumors and 140 cams of benign lesions was analyzed and five morphological types of ApNOR were described in detail. In malignant tumors, the diffuse type (78%) was the most frequently seen, and in benign lesions, the nucleolar type (92.85%); the difference was thus highly significant (P < 0.001). The intranucleolar and aggregate types were not observed in benign lesions. There was no obvious difference in the proportion of the mixed type in benign and malignant lesions (P > 0.05). The relationship between grade of malignancy and morphological typing of AgNOR and its clinical significance are discussed.     

Primary anorectal malignant melanoma: Report of a case

(Received for publication on Aug. 18, 1997; accepted on May 15, 1998)     

Interpretation of Wada memory test for lateralization of seizure focus by use of (99m)technetium-HMPAO SPECT

PURPOSE: Although the intracarotid amobarbital procedure (IAP) or Wada test is useful in lateralizing seizure focus in patients with temporal lobe epilepsy (TLE), the results of the IAP memory test are frequently nonlateralizing. An insufficient suppression of the medial temporal region contralateral to the seizure focus may contribute to the failure of lateralization. We tried to correlate IAP memory results with the functional changes in the contralateral medial temporal region as measured by single photon emission computed tomography (SPECT) during IAP. METHODS: We performed a (99m)technetium-(Tc) hexamethylene-propylene-amine-oxime (HMPAO) brain SPECT in 19 medial TLE patients during a contralateral IAP (sodium amobarbital injected contralateral to the seizure focus). Regional cerebral blood flow (rCBF) was measured in the contralateral medial temporal region. The amount of decrease in the rCBF was calculated by subtracting the previous measurement from the one obtained with the interictal SPECT. RESULTS: Ten (53%) patients passed and nine (47%) failed the contralateral IAP. The mean percentage decrease in rCBF was 5.3+/-5.3%. There was a significant negative correlation between a decrease in the rCBF and the IAP memory-retention score by Spearman correlation (p = -0.53: p<0.021). Patients with smaller decreases in rCBF (<5%) more frequently passed the contralateral IAP memory test than did those with larger decreases (80 vs. 22%; p<0.023). CONCLUSIONS: We suggest that an insufficient suppression of the contralateral medial temporal function is partly responsible for nonlateralizing IAP memory tests. An IAP-SPECT may be useful in interpreting IAP memory tests for the lateralization of seizure focus in TLE patients.     

面颈部静脉畸形的综合治疗

目的:探讨多种方法综合治疗口腔及面颈部大面积静脉畸形的临床效果。方法:根据患者的年龄、病变部位、病变大小制订个体化治疗方案,采用多种药物联合注射,结合病变周围环形缝扎、激光、手术等方法综合治疗口腔颌面部大面积静脉畸形134例。结果:134例中治疗效果优79例(58.96%),良45例(33.58%),显效10例(7.46%),差0例。结论:采用多种方法综合治疗口腔颌面部大面积静脉畸形,对提高疗效、改善面部形态、维持局部功能、减少不良反应具有重要意义。     

眼针针刺脾区、胃区配合基础药物治疗难治性高血压患者93例临床观察

目的 观察眼针针刺从脾胃论治难治性高血压的临床疗效.方法 难治性高血压患者97例维持入组前口服药物品种及剂量,同时采用眼针针刺治疗,主穴脾区、胃区,辅穴肝区、肾区,每天1次,每周日休息,连续治疗8周.观察治疗前及治疗4、8周后患者偶测血压情况及治疗前后患者24h动态血压情况、血压负荷和血压变异性,并据血压改善值判定临床疗效及血压达标率.结果 试验过程中脱落4例.93例患者治疗后总有效77例,总有效率为82.79％,血压达标75例,血压达标率为80.65％.治疗4、8周后患者收缩压和舒张压都明显低于治疗前(P ＜0.05或P＜0.01),治疗8周后较治疗4周后亦有降低(P＜0.05).治疗8周后,患者24 h血压监测收缩压和舒张压水平及其血压负荷及血压变异性都明显低于治疗前(P＜0.05).结论 眼针针刺脾区、胃区配合基础药物治疗可以良好地控制难治性高血压患者的血压,从而减少对心脏、肾、脑等靶器官的损害.     

Validation of the Proximal Isovelocity Surface Area Method for Assessing Mitral Regurgitation in Children

The proximal isovelocity surface area (PISA) method for calculating volume flow through the regurgitant orifice has attracted significant attention. A number of in vitro studies and clinical studies in adults suggest that the method is accurate. However, when applying the method to children it must be noted that the absolute regurgitation volume is small, and the range of body sizes is wide. This study investigated the accuracy of the PISA method for quantitative assessment of the severity of mitral regurgitation in children. Twenty children aged 7 months to 12 years (average 4.7 years) with mitral regurgitation but without interventricular shunt or aortic stenosis were selected for this study. Underlying cardiac diseases included atrioventricular septal defects in nine, isolated mitral regurgitation in five, and association with other heart defects in six. The PISA radius (r) and the duration of regurgitation (T) were measured on color M-mode recordings, with the M line passing through the center of the PISA. Assuming that the PISA is a hemisphere, maximal regurgitant flow rate (MFR: ml/s) was calculated as MFR = 2π×~ r ²×~ V (r= maximal radius, V= aliasing velocity), and regurgitant stroke volume (RSVpisa) as RSVpisa = 2π×~ MSR ×~ V×~ T (MSR = mean square of the PISA radius during regurgitation). As a validating standard, total stroke volume (TSV) using two-dimensional echocardiography determined by the area–length volumetry method and forward stroke volume (FSV) by the pulsed Doppler method were measured, and regurgitant stroke volume (RSV_D: RSV_D= TSV − FSV) and regurgitant fraction (RF: RF = RSV_D/TSV) were calculated. A linear correlation was found between MFR, RSVpisa, and RSV_D (X) (MFR = 4.2X + 54.0, r= 0.84. RSVpisa = 1.0X + 9.8, r= 0.90), and both RSVpisa and MFR divided by body surface area (BSA: m²) revealed a significant correlation with regurgitant fraction (X) by nonlinear regression analysis (RSVpisa/BSA = 26.2 ×~ X/(1 − X) + 16.8, r= 0.85. MFR/BSA = 121.8 ×~ X/(1 − X) + 92.2, r= 0.79). It is concluded that maximal regurgitant flow rate, regurgitant stroke volume, and regurgitant fraction can be accurately predicted in children using the PISA method by Doppler echocardiography.     

Trends in Mortality from Ischemic Heart Disease in the Region of the Americas, 2000–2019

Background:In latest decades, mortality rates from ischemic heart disease (IHD) had declined steadily in most of the world as a consequence of improvements in prevention and therapy.Objective:The aim of this study was to analyze trends in mortality caused by IHD in the region of the Americas from 2000 to 2019.Methods:Estimates of the age-adjusted mortality rate (AAMR) due to IHD were extracted from the Data Portal on Noncommunicable Diseases, Mental Health, and External Causes (ENLACE), Pan American Health Organization. We used Joinpoint regression to analyze significant changes in mortality trends by country, gender, geographical sub-region, and country income, according to the World Bank classification. We also calculated the average annual percent change (AAPC) mortality rate for the overall period in the Americas as a whole and by country and sub-region.Results:In the region of the Americas, the AAMR from IHD decreased from 117.80 (95% uncertainty interval (UI)) 106.64–135.90) in 2000 to 73.64 (62.65–92.66) per 100,000 in 2019. In males, from 149.08 (95% UI 138.23–168.08) to 96.02 (95% UI 83.48–117.19) and in females 92.36 (95% UI 81.35–109.42) to 54.84 (95% UI 45.28–71.76). The AAPC mortality rate in the region decreased –2.5% (95% CI: –2.7, –2.3), with joinpoints in 2007 and 2012, –2.3% (95% CI: –2.5, –2.1) in men and –2.7% (95% CI: –3.0, –2.5) in women. According to the sub-region analysis, the highest decrease was recorded in North America, AAPC –3.1% (95% CI: –3.3, –3.0) with one joinpoint in 2011, whereas there was a stagnation of the mortality rate in Central America, Mexico, and Latin Caribbean with an AAPC of 0.1 (–0.2, 0.3) with one joinpoint in 2007.Conclusions:Age-adjusted mortality rate from IHD between 2000 and 2019 has decreased in the region of the Americas. However, different trends were observed, North America had the highest reduction in AAPC, while Central America, Mexico, and Latin Caribbean Region had a stagnation. This trend was highly influenced by country income.