Pitfalls in prenatal diagnosis of beta thalassaemia.

In this paper, we report a pregnancy at risk for beta thalassaemia in which the fetal red blood cell volume was reduced while that of the mother was relatively great, so that the presence of a fetal red blood cell population in a mixed maternal-fetal sample was difficult to recognise. The molecular basis for these haematological phenotypes was clarified by follow up examination and alpha globin gene mapping. These indicated that the fetus was heterozygous for beta thalassaemia and had deletion of three alpha globin structural genes, while the mother, heterozygous for beta thalassaemia, also had deletion of two alpha globin structural genes. When the coinheritance of alpha thalassaemia is suspected, it is necessary to examine carefully the red blood cell distribution of a placental sample, so that the presence of a population of fetal red blood cells is not missed.     

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe

The chemokine receptor CCR5 is encoded by the CMKBR5 gene located on the p21.3 region of human chromosome 3, and constitutes the major co- receptor for the macrophage-tropic strains of HIV-1. A mutant allele of the CCR5 gene, Delta ccr5 , was shown to provide to homozygotes with a strong resistance against infection by HIV. The frequency of the Delta ccr5 allele was investigated in 18 European populations. A North to South gradient was found, with the highest allele frequencies in Finnish and Mordvinian populations (16%), and the lowest in Sardinia (4%). Highly polymorphic microsatellites (IRI3.1, D3S4579 and IRI3.2, D3S4580 ) located respectively 11 kb upstream and 68 kb downstream of the CCR5 gene deletion were used to determine the haplotype of the chromosomes carrying the Delta ccr5 variant. A strong linkage disequilibrium was found between Delta ccr5 and specific alleles of the IRI3.1 and IRI3.2 microsatellites: >95% of the Delta ccr5 chromosomes carried the IRI3.1-0 allele, while 88% carried the IRI3.2-0 allele. These alleles were found respectively in only 2 or 1.5% of the chromosomes carrying a wild-type CCR5 gene. From these data, it was inferred that most, if not all Delta ccr5 alleles originate from a single mutation event, and that this mutation event probably took place a few thousand years ago in Northeastern Europe. The high frequency of the Delta ccr5 allele in Caucasian populations cannot be explained easily by random genetic drift, suggesting that a selection advantage is or has been associated with homo- or heterozygous carriers of the Delta ccr5 allele.      

ASSESSMENT OF URINE SATURATION AND INHIBITORY INDEX IN PATIENTS WITH CALCIUM OXALATE KIDNEY STONE AND NORMALS

The formation of calcium oxalate nephrolithiasis can be estimated by measuring the concentration of calcium oxalate versus the inhibitory role of crystal formation in the urine. In recent studies, the calcium oxalate saturation index and the inhibitory activity (by modified Sarig's method) of the urine during fasting and after oral calcium loading in normal subjects and in patients with calcium nepliro- lithiasis were determined. It was shown that, in normal comrols after calcium loading the inhibitory activity of the urine increased in parallel with the increase in urinary excretion of calcium oxalate; in contrast, in patients with kidney stones, it remained unchanged or fell slightly. This abnormal response might result in a disturbance of the saturation-inhibi- tion balance and formation of kidney stone. In normal individuals, there may be a "protective re- sponse" to prevent the precipitation of calcium oxalate when the urrine is oversaturated with calcium oxalate while a defect of the "protective response" in patients may be an important factor in calcium oxalate stone formation.     

术前孤立性CRP升高与体外循环术后并发症的相关性

目的探讨无感染的、术前孤立性C-反应蛋白(CRP)增加,对于体外循环心脏术后的结果,是否有预测性价值。方法分术前孤立性CRP升高(10.5～70.2mg／L)50例(A组)与CRP正常(＜10mg／L)50例对照(B组),B组匹配A组在年龄、性别和疾病种类,两组均进行体外循环心脏手术。结果A组脓毒性并发症(20％)比对照组(2％)多(P＜0.01)。这些病人微生物学阳性仅10％。A组中需要儿茶酚胺支持的占28％,而B组仅12％(P＜0.05)。A组较B组术后需呼吸机支持的时间明显延长(25.2±6.2h比6.6±0.5h)(P＜0.01)、ICU滞留时间也较B组长(4.6±0.8d比2.6±0.3d)(P＜0.05)。结论术前孤立性CRP升高的病人,体外循环术后,发生脓毒性并发症的可能性明显增加。且大多数病例微生物学实验阴性,推测大多数脓毒性并发症是由于全身炎症反应综合征的原因。     

颈部囊肿与瘘管的诊断和治疗

目的：总结颈部囊肿与瘘管的诊治经验。方法：93例行手术治疗,其中鳃裂囊肿15例,鳃裂瘘管10例,皮样囊肿1例,囊状淋巴管瘤4例,甲状舌骨囊肿37例,甲状舌管瘘管25例,癌性淋巴液囊肿1例,随访1－10年。结果：93例中,囊性淋巴管瘤1例复发后失访,另1例行2次手术,癌性淋巴液囊肿1例半年后死于肺转移,鳃裂瘘管2例3次手术,甲状舌管瘘管1例复发,鳃裂瘘管术后1例迟发性面瘫,一次手术治愈,无术后并发症。结论：颈部囊肿与瘘管的诊断除依据术前检查外,主要是依据术中的发现和术后病理检查。B超、CT等是有效的辅助检查.手段治疗上应彻底切除囊壁与瘘管,避免复发。术中应避免损伤颈部的大血管和神经。甲状舌管瘘管须切除舌骨中段2cm,这是防止术后复发的关键。     

云南个旧和宣威地区肺癌p53突变检测研究

目的　云南个旧及宣威地区是云南省肺癌的两大点状高发区 ,个旧以矿工为高发人群 ,宣威以农民为高发 ,该两地区肺癌发生的病因已初步阐明 ,本研究旨在深入探讨其发病的分子生物学基础。方法　对 2 6例个旧矿工肺癌患者 ,15例宣威农民肺癌患者 ,应用聚合酶链反应 -单链构象多态性法研究 p5 3第 5至第 8外显子突变 ,并对有突变的个体进行测序。结果　发现云锡矿工肺癌患者中有 13例、宣威农民肺癌患者中有 4例发生 p5 3突变 ,应用 DNA测序 ,发现云锡矿工肺癌中有 1例于第 135位密码子发生突变 ,由 GCC→ GTC,导致氨基酸改变 ,由丙氨酸→缬氨酸 (Ala→ Val) ,宣威农民肺癌患者中有 1例于 2 47位密码子突变 ,由 AAC→ TTC,导致氨基酸发生改变 ,由天冬酰氨→苯丙氨酸 (Asn→ Phe)。结论　 p5 3突变在云锡矿工肺癌和宣威农民肺癌中较常发生 ,并发现两例新的突变位点。 p5 3突变与病人的年龄、性别、坑龄及组织学分类无明显联系     

Approach selection and outcomes of craniopharyngioma resection: a single-institute study

Neurosurgical Review - Since there are many approaches for successful craniopharyngioma resection, how to choose a suitable approach remains problematic. The aim of this study was to summarize...     

Despite Equivalent Outcomes,Men Receive Neoadjuvant Chemotherapy Less Often Than Women for Lymph Node-Positive Breast Cancer

Annals of Surgical Oncology -