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.      

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。      

Chronic expression of P-selectin on endothelial cells stimulated by the T-cell cytokine, interleukin-3

P-selectin expressed on the surface of endothelium mediates leukocyte adhesion in vitro and rolling in vivo. Several inducers of cell-surface P-selectin expression on endothelial cells (EC) have previously been identified, all of which yield transient cell-surface expression of P- selectin lasting minutes to a few hours. We now show that a T- lymphocyte product, interleukin-3 (IL-3), stimulates the long-term endothelial cells (HUVEC). IL-3 induced cell-surface P-selectin expression in two phases. An initial peak at 10 minutes was followed by a prolonged upregulation beginning 16 hours after IL-3 addition and lasting at least 4 days. The level of P-selectin expression induced by IL-3 added for 48 hours was similar to that induced by treatment of HUVEC for 10 minutes with thrombin, and the effect of adding IL-3 for 48 hours followed by thrombin for 10 minutes was additive. Induction of cell-surface P-selectin expression by IL-3 was blocked by pretreatment of EC with a blocking monoclonal antibody against the IL-3 receptor alpha-chain. Lipopolysaccharide (LPS), tumor necrosis factor alpha (TNF alpha) and a mutant form of IL-3 with decreased potency did not induce cell-surface P-selectin expression after 48 hours' incubation with HUVEC, suggesting that the effect was specific to IL-3. The increase in cell-surface P-selectin expression occurring after 16 hours of incubation with IL-3 was accompanied by a similar prolonged increase in the steady-state mRNA level that was not observed at 10 minutes after IL-3 addition. As T-lymphocyte infiltration is a hallmark of chronic inflammation, our observations suggest that the secretion of IL-3 by T lymphocytes may serve to maintain the inflammatory state during chronic inflammation.     

Sonographic Biometry of Normal Kidney Dimensions among School-age Children in Nsukka,Southeast Nigeria

Background:

Some kidney diseases are usually associated with changes in kidney size.

Objective:

To determine sonographically the normal limits and percentile curves of the kidney dimensions according to age, gender and somatometric parameters among school-age children.

Methods:

A prospective cross-sectional research design and convenience sampling method were utilized. Participants included 947 normal subjects (496 boys and 451 girls) aged 6–17 years old. The sonographic examination was performed on a Shenzhen DP-1100 machine with 3.5 MHz convex transducer. Longitudinal and transverse dimensions of the kidneys were obtained in coronal plane with the subject in the supine or left lateral decubitus position.

Results:

The means of right and left kidney lengths in mm were 79.6 ± 8.1 and 81.6 ± 8.3, respectively while those of the right and left kidney widths in mm were 35.03 ± 3.6 and 35.09 ± 3.6, respectively. Dimensions of the kidneys were not statistically different in boys and girls (p > 0.05). There was a statistically significant difference between right and left kidney length (p < 0.05). Height correlated best with both kidney lengths. Thus the normal limits, prediction models and percentile curves of kidney lengths were established with respect to height.

Conclusion:

Sonographic determination of pathologic changes in the size of the kidney necessitates knowing the normal ranges of its length especially with respect to height in school-age children.     

健康信念模式在早期宫颈癌患者健康教育中应用观察

目的探讨健康信念模式在早期宫颈癌患者健康教育中应用价值。方法选取该院2013年1月—2014年6月收治的90例早期宫颈癌患者,随机分为两组,对照组和观察组各45例,对照组患者应用标准健康计划指导,观察组患者实施健康信念模式,比较两组患者采用不同的健康教育方式后患者对宫颈癌基本知识、自我保健知识的掌握情况。结果观察组患者对疾病知晓和掌握程度明显优于对照组,观察组掌握率高达93.3%（42/45）,与对照组的75.6%（34/45）差异有统计学意义（P〈0.05）;观察组自我保健知识掌握率为95.6%（43/45）,对照组掌握率为82.2%（37/45）,差异有统计学意义（P〈0.05）;观察组对护理工作满意度显著高于对照组（P〈0.05）。结论对早期宫颈癌患者健康教育中采用健康信念模式具有明显的临床价值,有助于提升患者对疾病的认识,增强健康信念,养成良好的生活习惯,积极主动的做好预防措施,有效降低并发症发生率,值得在临床上进一步推广。     

Gestational trophoblastic neoplasia: diagnosis with Doppler US

The sonographic appearance of gestational trophoblastic neoplasia is nonspecific and also seen in complete or partial hydatidiform mole, hydropic degeneration, degenerating fibroids, or ovarian dysgerminomas. Correlation with the serum human chorionic gonadotropin (hCG) level may be helpful since levels exceeding 100,000 IU/L are strongly suggestive of gestational trophoblastic neoplasia. However, low hCG levels may also be found in the presence of this disease. The authors studied six patients who were suspected of having gestational trophoblastic neoplasia. Three of the six proved to have incomplete abortions or molar degeneration. Doppler ultrasound (US) was used to record the signal in the uterine arteries of these patients. The signals were compared with those of three nongravid volunteers and three patients in the first trimester of pregnancy. Analysis of the signals in the uterine artery showed higher systolic and diastolic Doppler shifts in gestational trophoblastic neoplasia when compared with postabortal, gravid, and nongravid signals. These preliminary results indicate that Doppler US has the potential to be clinically useful in the diagnosis of gestational trophoblastic neoplasia.     

THE PHYSICIAN IN COURT: A VIEW FROM THE BENCH

Only lawyers and judges-and not even all of them-look forward to being in court. For the physician it is usually not an experience sought or savoured. Yet some physicians are in court more frequently than some lawyers because they are expert witnesses or because they have treated a person who is before the court in a civil or criminal case. There is also the physician who is sued and is thus a defendant. I believe it important that physicians know the basic ingredients of a civil action. I will be drawing on my experience as a trial judge for eight years and an Alberta Court of Appeal judge for five, and as a former professor in the faculties of law and medicine at the University of Alberta, to present the perspective from the bench on civil non-jury actions.     

p53、C-erbB-2癌基因蛋白在涎腺粘液表皮样癌中的表达及其临床病理学意义

目的探讨癌基因蛋白p53、C-erbB-2（p185）过度表达与粘液表皮样癌生物学行为的关系。方法利用微波免疫组织化学方法对32例人粘液表皮样癌的癌基因蛋白p53、C-erbB-2进行检测。结果正常诞腺组织p53、C-erbB-2均为阴性反应。癌旁导管上皮细胞两者阳性率分别为10.0％及15.0％,但腺泡细胞阴性。粘波表皮样癌组织中p53、C-erbB-2阳性率分别为40.6％及46.9％。p53、C-erbB-2在粘液细胞、表皮样细胞及中间细胞内均有表达。p53、C-erbB-2的表达与粘液表皮样癌肿瘤组织学类型、分化程度及肿瘤复发等肿瘤生物学行为密切相关（P＜0.01）。结论p53、C-erbB-2可作为粘液表皮样癌的分化性标志物,用于监测病情、判断预后等。