Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35

Cataract is one of the major causes of blindness in humans. We describe here an autosomal dominant polymorphic congenital cataract (PCC) which is characterised by wide variations in phenotype of non-nuclear lens opacities, even among affected members of the same family. PCC families included a large, unique pedigree (254 members, 103 affected individuals), and genetic linkage was conducted using a variety of polymorphic markers. Evidence for linkage was found for chromosome 2q33- 35 with PCC mapping near D2S72 and TNP1. A tri-nucleotide microsatellite marker for gamma-crystallin B gene (CRYG1) was found to co-segregate with PCC and yielded a maximum lod score of 10.62 at (theta = 0). A multipoint analysis demonstrated that the most probable location of the PCC gene was within an 8 cM genetic interval containing the gamma-crystallin gene cluster. These data provide strong evidence of the existence of an autosomal dominant mutation for PCC in or near the gamma-crystallin gene cluster. This defect is characterised by complete penetrance but variable expression of the cataract phenotype. Our study also suggests that non-nuclear human cataracts might be caused by some abnormality in gamma-crystallin genes.      

臀部坐骨神经损伤及修复

目的　报告 190例臀部坐骨神经损伤的临床资料并探讨其处理方法。方法　药物注射伤 16 4例(占 86 .32 % ) ,锐器伤 14例 ,骨盆骨折、髋关节脱位合并伤 11例 ,臀部挫伤 1例。非手术治疗 15例 ,手术 175例。术中见损伤平面在臀大肌段 146例 ,梨状肌段 2 6例 ,盆腔段 3例。采用神经松解术 16 0例 ,神经外膜对端吻合 12例 ,神经移植术 2例 ,神经探查未修复神经 1例 ;2 3例做了后期足踝部功能重建术。结果　 15 1例获得 6个月～ 2 1年随访 (平均 8.5年 ) ,神经恢复的优良率为 5 6 .95 % ,后期功能重建的优良率为 78.2 6 %。结论　臀部坐骨神经损伤是周围神经损伤中最难处理和疗效最差的部位之一。其各段损伤与局部解剖关系密切。治疗应持积极态度 ,药物注射伤应争取尽早行神经松解术 ;神经断裂伤行外膜对端吻合术 ;骨盆骨折、髋脱位引起者 ,早期复位减压 ,后期须探查修复神经。晚期足踝部功能重建可改善肢体功能。     

美罗华联合CTOP方案治疗B 细胞非霍奇金淋巴瘤35例临床分析

目的:评价美罗华联合环磷酰胺、吡柔比星、长春新碱、泼尼松（R-CTOP 方案）治疗B 细胞非霍奇金淋巴瘤的疗效及不良反应,分析影响疗效的相关因素。方法:回顾性分析我院35例经病理证实为CD20+ 的B 细胞非霍奇金淋巴瘤患者的临床资料,评估R-CTOP 方案化疗的疗效及不良反应,分析性别、年龄、疾病分期、病理类型、LDH 水平及IPI 评分等影响疗效的相关因素。结果:35例患者中33例可评价疗效,其中完全缓解（CR）17例（51.5%）,部分缓解（PR）11例（33.3%）,有效率（CR+PR）84.8% 。23例初治患者中,CR13例（56.5%）,PR8 例（34.8%）,有效率（CR+ PR）91.3% ;10例复发难治患者中,CR4 例（40%）,PR3 例（30%）,有效率70% 。疗效与性别、疾病分期、病理类型、LDH 水平及IPI 评分等因素无显著相关,年龄对疗效有一定影响（P=0.012 ）。 35例患者中无治疗相关死亡,不良反应主要为骨髓抑制（Ⅲ～Ⅳ度白细胞下降32.1%）,心脏毒性和脱发较轻,主要为Ⅰ～Ⅱ级反应。其它不良反应经对症处理后均可耐受。结论:R-CTOP 方案治疗B 细胞非霍奇金淋巴瘤有效率高且不良反应轻微,可作为治疗B 细胞非霍奇金淋巴瘤特别是老年非霍奇金淋巴瘤患者的优先选择。      

Endoscopic Mucosal Resection for Esophageal Cancer: EMR‐C Procedure

As a therapeutic modality for superficial esophageal cancer, endoscopic mucosal resection (EMR) is now thoroughly established. We routinely perform EMR using a cap (EMR‐C) procedure as a developer. In EMR‐C procedure, injection of a large volume of saline and a certain prelooping along the inner rim of the cap are vital issues for safe and reliable resection. In multi‐sessions of EMR, submucosal injection of saline prior to every session is essential, in order to avoid perforation. In such a manner, total circumferential EMR can be performed safely and easily by the EMR‐C procedure.     

Identification of a growth factor for primary murine stroma as macrophage colony-stimulating factor

Knowledge of the stromal microenvironment is crucial for understanding the hematopoietic system. We took advantage of an assay that permits analysis of primary stroma-initiating cells (SICs) on the clonal level, and further characterized SICs and the factors that regulate SICs. Stroma formation in this assay is dependent on a high-molecular-weight factor secreted by the stromal cell line AC3.U. Here we show that this factor is identical to macrophage colony-stimulating factor (M-CSF), and that purified M-CSF is sufficient for induction of stroma formation. M-CSF, isolated from the line AC3.U, as well as from L929 cells and COS cells transfected with an expression vector encoding M- CSF, migrated in two peaks as 160- and 650-kD species after gel filtration. These molecular-weight species encompassed all stroma- inducing activity, and both stimulated macrophage colony formation. Affinity chromatography and blocking studies with antibodies specific for M-CSF and c-fms confirmed M-CSF as the sole factor in the supernatant of the stromal cell line AC3.U that promotes stroma formation. Culture of marrow, for as little as 1 week, depleted M-CSF- dependent SIC while increasing the incidence of replatable, factor- independent SIC. This suggests that culture changes the properties of SICs, perhaps by inducing differentiation into mature stromal cells. Thus, our results show a novel function of M-CSF as an important modulator of stroma formation.     

Fibrinogen binding to human blood platelets: effect of gamma chain carboxyterminal structure and length

Recent evidence suggests that fibrinogen binding to platelets is mediated by the 12 carboxyterminal amino acid residues of the gamma chain. Because human plasma fibrinogen gamma chains differ in mol wt and carboxyterminal amino acid sequence, we examined the effect of such gamma chain heterogeneity on platelet-fibrinogen interactions, using two fibrinogens of distinct composition, separated by ion exchange chromatography. One fibrinogen possessed only gamma chains of mol wt 50,000 (F gamma 50), the predominant gamma chain species found in plasma. The other fibrinogen possessed equal amounts of gamma chains with mol wt 50,000 and 57,500 (F gamma 50,57.5), with the longer gamma chain (gamma 57.5) possessing an amino acid extension at the carboxyterminal end. The latter fibrinogen was 50% less effective than F gamma 50 in supporting ADP-induced platelet aggregation at concentrations of .01 to 2 mg/mL. Scatchard analysis revealed no difference in the binding affinities of the two fibrinogens to ADP- treated platelets, but the amount of F gamma 50,57.5 that was bound to platelets at saturation was only 50% that of F gamma 50. Fibrinogen receptors that remained unoccupied in the presence of saturating concentrations of F gamma 50,57.5, however, could be occupied by fresh F gamma 50. Excess unlabeled F gamma 50 displaced both radiolabeled fibrinogens from activated platelets, and both fibrinogens bound to the same platelet receptor, as judged by the inhibition of binding to stimulated platelets by a monoclonal antibody directed against the glycoprotein (GP) IIb/IIIa complex. Furthermore, an intact GPIIb/IIIa complex was required for these reactions, since platelets incubated with EDTA at 37 degrees C at alkaline pH failed to aggregate and bound neither fibrinogen in response to ADP following recalcification. Approximately 50% of each fibrinogen bound irreversibly to platelets after one hour and failed to dissociate in the presence of 10 mmol/L of EDTA or excess unlabeled F gamma 50. The data demonstrate that heterodimeric F gamma 50,57.5 binds less well to platelets and supports platelet aggregation only half as well as homodimeric F gamma 50. These results support prior conclusions that the carboxyterminal portion of the gamma chain is important in platelet-fibrinogen interactions, and suggest that the 20 amino acid, hydrophobic gamma chain carboxyterminal extension of F gamma 50,57.5 may sterically hinder the interaction of this fibrinogen with platelet receptors.     

Induction of human platelet fibrinogen receptors by epinephrine in the absence of released ADP

The ability of epinephrine to expose platelet fibrinogen receptors independent of released ADP was assessed using aspirin-treated, gel- filtered platelets. Similar to ADP-induced aggregation, platelet aggregation in response to epinephrine was accompanied by fibrinogen binding. Ten micromolar epinephrine induced a maximum number of platelet fibrinogen receptors in the absence of significant 14C- serotonin release. As indicated by Scatchard analysis, receptors exposed by both epinephrine and ADP had similar affinities for fibrinogen, but epinephrine induced approximately 30% fewer receptors than did ADP. This appears to correlate with the lesser degree of primary aggregation observed with this agent. Studies using phentolamine, a specific alpha-adrenergic antagonist, apyrase, or creatine phosphate/creatine kinase indicate that the exposure of platelet fibrinogen receptors by epinephrine was specific for platelet alpha-adrenergic receptor stimulation and was not the result of released ADP.     

Adjuncts to case assessment of vaginal discharge syndrome in pregnant women

ObjectiveTo investigate the aetiology of abnormal vaginal discharge, using a non-culture based method, among pregnant women presenting at the University of Calabar Teaching Hospital, Calabar, Nigeria.MethodsTwo hundred consecutive antenatal patients, aged 18 to 38 years, with complaints of abnormal vaginal discharge between 1st April and 31st July 2004 were investigated clinically for the characteristics of the vaginal discharge. High vaginal swabs taken from the vaginal fornices were examined using a non-culture based method to determine the possible aetiology of the discharge. The possibility of integrating non-culture based laboratory methods in the syndromic case management of abnormal vaginal discharge in an antenatal clinic setting is discussed.ResultsThe commonest form of abnormal discharge was curdy white in 66% of cases. Ten (5%) women had malodourous vaginal discharged, 92% had vulval itching; and superficial dyspareunia was seen in 29% of cases. Microscopic studies of vaginal discharge revealed the following findings: lactobacilli (96%), polymorphs (96%), 'clue' cells (4%); positive Whiff test (5%), and pH > 4.5 (7%). The clinical and laboratory assessment of each patient lasted between 35 and 45 minutes. The procedures used were acceptable to 78% of women.ConclusionThe use of non-culture based laboratory methods in the initial assessment of abnormal vaginal discharge can be a useful adjunct in the syndromic case management of abnormal vaginal discharge in pregnant women.     

B 超诊断前置胎盘分型的再探讨

目的 对Ｂ超诊断前置胎盘分型的改进探讨。方法 对３６例前置胎盘患者进行Ｂ超探查。观察胎盘下缘与子宫内口的关系。结果 前置胎盘的Ｂ超声像图可分四类：①胎盘中央部位于宫内口。②胎盘边缘部完全覆盖宫内口。③胎盘下缘至宫内口边缘,未覆盖宫内口。④盈盘位于子宫下截,未达到宫内口。结论 部分性前置胎盘的超声诊断分型担法不确切可予取消。将中央性前置胎盘诊断分两个亚型：中央型、边缘型。