胰腺外科学分段的解剖学基础及其意义

目的：为胰腺外科学分段提供解剖学基础。方法：在６４具灌注标本和４具铸型标本上观察胰内动脉分布、吻合。结果：头由胰十二指肠上动脉和胰十二指肠下动脉供血；颈为一乏血管区；体和尾由胰背动脉、胰支、胰大动脉和胰尾动脉供血。结论：全部胰腺可分为左侧段和右侧段     

Experimental determination of the anisotropy function for the model 200 103Pd "light seed" and derivation of the anisotropy constant based upon the linear quadratic model

Since the publication of the AAPM Task Group 43 report in 1995, Model 200 103Pd seed, which has been widely used in prostate seed implants and other brachytherapy procedures, has undergone some changes in its internal geometry resulting from the manufacturer's transition from lower specific activity reactor-produced 103Pd ("heavy seeds") to higher specific activity accelerator-produced radioactive material ("light seeds"). Based on previously reported theoretical calculations and measurements, the dose rate constants and the radial dose functions of the two types of seeds are nearly the same and have already been reported. In this work, the anisotropy function of the "light seed" was experimentally measured and an averaging method for the determination of the anisotropy constant from distance-dependent values of anisotropy factors is presented based upon the continuous low dose rate irradiation linear quadratic model for cell killing. The anisotropy function of Model 200 103Pd "light seeds" was measured in a Solid Water phantom using 1 X 1 x 1 mm micro LiF TLD chips at radial distances of 1, 2, 3, 4, 5, and 6 cm and at angles from 0 to 90 degrees with respect to the longitudinal axis of the seeds. At a radial distance of 1 cm, the measured anisotropy function of the 103Pd "light seed" is considerably lower than that of the 103Pd "heavy seed" reported in the TG 43 report. Our measured values at all radial distances are in excellent agreement with the results of a Monte Carlo simulation reported by Weaver, except for points along and near the seed longitudinal axis. The anisotropy constant of the 103Pd "light seed" was calculated using the linear quadratic biological model for cell killing in 30 clinical implants. For the model 200 "light seed," it has a value of 0.865. However, our biological model calculations lead us to conclude that if the anisotropy factors of an interstitial brachytherapy seed vary significantly over radial distances anisotropy constant should not be used as an approximation for anisotropy characteristics of a brachytherapy seed.     

Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

Leukodystrophies are a heterogeneous group of heritable disorders characterized by abnormal brain white matter signal on magnetic resonance imaging (MRI) and primary involvement of the cellular components of myelin. Previous estimates suggest the incidence of leukodystrophies as a whole to be 1 in 7,000 individuals, however the frequency of specific diagnoses relative to others has not been described. Next generation sequencing approaches offer the opportunity to redefine our understanding of the relative frequency of different leukodystrophies. We assessed the relative frequency of all 30 leukodystrophies (associated with 55 genes) in more than 49,000 exomes. We identified a relatively high frequency of disorders previously thought of as very rare, including Aicardi Goutières Syndrome, TUBB4A‐related leukodystrophy, Peroxisomal biogenesis disorders, POLR3‐related Leukodystrophy, Vanishing White Matter, and Pelizaeus‐Merzbacher Disease. Despite the relative frequency of these conditions, carrier‐screening laboratories regularly test only 20 of the 55 leukodystrophy‐related genes, and do not test at all, or test only one or a few, genes for some of the higher frequency disorders. Relative frequency of leukodystrophies previously considered very rare suggests these disorders may benefit from expanded carrier screening.     

The mutational spectrum of brachydactyly type C

Growth/differentiation factor-5 (GDF5), also known as cartilage-derived morphogenetic protein-1 (CDMP-1), is a secreted signaling molecule that participates in skeletal morphogenesis. Heterozygous mutations in GDF5, which maps to human chromosome 20, occur in individuals with autosomal dominant brachydactyly type C (BDC). Here we show that BDC is locus homogeneous by reporting a GDF5 frameshift mutation segregating with the phenotype in a family whose trait was initially thought to map to human chromosome 12. We also describe heterozygous mutations in nine additional probands/families with BDC and show nonpenetrance in a mutation carrier. Finally, we show that mutant GDF5 polypeptides containing missense mutations in their active domains do not efficiently form disulfide-linked dimers when expressed in vitro. These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5.     

父母教养方式：EMBU的初步修订及其在神经症患者的应用

本文选取390名正常人为被试,对父母教养方式调查问卷 EMBU (Egna Minnen avBarndosnauppforstran) 通过主因素分析,项目分析进行了初步修订。修订后的问卷涉及父亲58个条目。母亲57个条目,并各自由六个和五个分量表组成。并对66名神经症患者和66名正常人进行了效度的实证考查。     

抗慢性B淋巴细胞白血病患者IgM单抗相对亲和力的分析

本文采用间接ELISA法检测了11株抗B-CLL患者IgM腹水和杂交瘤上清McAb的相对亲和力。结果提示,各株McAb结合抗原的相对亲和力不同。根据50％最大结合浓度分为两组。其中4株杂交瘤上清McAb与纯化腹水McAb测得结果基本吻合。实验结果为合理地选用这些单抗提供了重要依据。     

血常规参数RDW在肝纤维化诊断中的价值

目的初步探讨病毒性肝炎患者的红细胞分布宽度（RDW）、平均红细胞体积（MCV）、平均血小板体积（MPV）、血小板分布宽度（PDW）等四项血常规参数在肝纤维化诊断中的意义。方法303例病毒性肝炎患者分为急性肝炎（AH）组、慢性肝炎（CH）组、肝炎肝硬化（LC）组和重型肝炎（SH）组，对照组由16名健康人组成。采用全自动血细胞计麴仪检测所有被测试者的血常规参数，并同期对其中179例患者采用放射免疫法检测其血清透明质酸（HA）和层粘蛋白（LN）水平、采用彩色多普勒超声仪测量其脾脏的长径（SPL）及厚度（SPT），研究上述指标之间的相互关系。结果CH组、LC组和SH组患者的RDW均显著高于对照组，CH组、LC组的MCV显著高于对照组，MPV和PDW在各病毒性肝炎组与对照组之间无显著性差异：病毒性肝炎患者的RDW与其HA、LN、SPT、SPL成显著直线正相关。结论RDW对慢性肝炎肝纤维化的诊断有一定的临床价值。     

双胎妊娠围生儿预后相关因素分析

目的　探讨双胎妊娠新生儿窒息、围生儿死亡的相关因素。方法　回顾分析 2 5 5例双胎妊娠新生儿Apgar评分、新生儿窒息、围生儿死亡与孕周、新生儿体重、分娩方式的关系。结果　双胎妊娠孕 37～ 39+ 6w组Apgar评分最高、新生儿窒息率最低 ,≥ 2 5 0 0g组Apgar评分最高 ,新生儿窒息率、围生儿死亡率最低。孕周、新生儿体重 4组比较差异均有非常显著性(P <0 0 1)。剖宫产组比阴道分娩组Apgar评分高 ,新生儿窒息率、围生儿死亡率均低 ,2组比较Apgar评分、围生儿死亡率差异无显著性 (P >0 0 5 )。 2组比较新生儿窒息率差异有非常显著性 (P <0 0 1)。结论　双胎妊娠估计每个胎儿体重≥ 2 5 0 0g时 ,宜选择 37～ 39+ 6w终止妊娠为宜。加强孕期、围生期保健 ,积极防治各种并发症 ,适当放宽剖宫产指征 ,避免早产 ,减少低体重儿出生 ,是降低双胎围生儿死亡率、改善其预后的重要措施。     

大肠埃希菌中氟喹诺酮耐药机制功能分析

目的 分析拓扑异构酶的突变和外排泵系统在大肠埃希菌(Escherichia coli)氟喹诺酮类药物耐药机制中的作用.方法 本研究通过基因重组技术对大肠埃希菌中拓扑异构酶不同点突变的功能进行了准确测定,同时也对大肠埃希菌中不同外排泵及膜蛋白的功能进行了分析.结果 在不同的菌株中,acrAB或tolC的切除所引起细菌耐药性的变化不同.对拓扑异构酶点突变的功能分析显示,gyrA中的点突变(S83和D87)在喹诺酮耐药机制中起主要作用,没有gyrA上的点突变,parC上的点突变(S80和A108)对细菌的耐药性不产生影响,但单独gyrA上的点突变(S83和D87)也仅导致敏感菌株对萘啶酸耐药,而对其他氟喹诺酮类药物仍表现为敏感.当对喹诺酮敏感的大肠埃希菌K-12同时具备gyrA(S83L和D87N)和parC(S801和A108V)上的点突变后,重组菌株对氟喹诺酮会自然产生耐药性,而并不需要过度表达的外排泵.结论 拓扑异构酶的突变在大肠埃希菌氟喹诺酮药物的耐药机制中起主要作用,对氟喹诺酮药物耐药的菌株通常应同时具备gyrA和parC上的点突变.     

肝纤维化标志物在慢性肝病中的临床意义

为探讨肝纤维化标志物Ⅲ型前胶原(PCⅢ)、透明质酸(HA)、Ⅳ型胶原(C-Ⅳ)和层粘连蛋白(LN)在慢性肝病肝纤维化的诊断和疗效观察中的临床意义, 采用RIA对52例慢性肝病患者, 42名健康对照者, 38例慢性肝病患者经保肝抗纤维化治疗后血清中的PCⅢ、HA、C-Ⅳ和LN进行检测, 同时与对照组和治疗后进行对比分析.慢性肝病患者血清PCⅢ、HA、C-Ⅳ和LN有不同程度升高, 与对照组比较差异显著(P＜0.05),38例慢性肝病治疗后血清PCⅢ、HA、C-Ⅳ和LN都有不同程度的下降, 与治疗前比较差异显著(P＜0.05).血清PCⅢ、HA、C-Ⅳ和LN的测定对慢性肝病肝纤维化的诊断及疗效观察具有重要的临床意义.