肝素涂层体外循环管道抗凝血性能的研究

目的 评测3种离子键肝素涂层体外循环管道的抗凝血性能和稳定性。方法 用PT和APTT对不同浓度肝素—氯烃基二甲基代苯甲胺(HBC)复合物涂层体外循环管道的凝血性能进行评测，同时测试体外转流对3种肝素涂层管道抗凝血性能的影响。结果 3种肝素涂层方法均能够将肝素分子结合于材料表面并具有抗凝活性，其中HBC复合物和肝素—聚乙烯亚胺复合物处理的体外循环管道经体外转流96h后仍具有较佳的抗凝血活性。结论 离子键肝素涂层因结合物质不同其稳定性也不同；HBC复合物和肝素—聚乙烯亚胺复合物处理的体外循环管道肝素分子结合较牢固，能够满足临床短期使用需要。     

The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients

Classic Ehlers-Danlos syndrome (EDS) is characterized by fragile and hyperextensible skin, atrophic scarring, and joint hypermobility. Mutations in the COL5A1 and the COL5A2 gene encoding the alpha1(V) and the alpha2(V) chains, respectively, of type V collagen have been shown to cause the disorder, but it is unknown what proportion of classic EDS patients carries a mutation in these genes. We studied fibroblast cultures from 48 patients with classic EDS by SDS-PAGE for the presence of type V collagen defects. An abnormal collagen pattern was detected in only 2 out of 48 cell lines, making this a poor method for routine diagnostic evaluation. A total of 42 out of 48 (88%) patients were heterozygous for an expressed polymorphic variant in COL5A1. cDNA from 18 (43%) of them expressed only one COL5A1 allele. In 37 patients, the COL5A1/A2 genes were then analyzed by SSCP and conformation sensitive gel electrophoresis (CSGE). A total of 26 patients that were mutation-negative after SSCP/CSGE screening were reanalyzed by dHPLC. In addition, 11 other patients were analyzed by dHPLC only. In total, 17 mutations leading to a premature stop codon and five structural mutations were identified in the COL5A1 and the COL5A2 genes. In three patients with a positive COL5A1 null-allele test, no causal mutation was found. Overall, in 25 out of 48 patients (52%) with classic EDS, an abnormality in type V collagen was confirmed. Variability in severity of the phenotype was observed, but no significant genotype-phenotype correlations emerged. The relatively low mutation detection rate suggests that other genes are involved in classic EDS. We excluded the COL1A1, COL1A2, and DCN gene as major candidate genes for classic EDS, since no causal mutation in these genes was found in a number of patients who tested negative for COL5A1 and COL5A2.     

Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience

Duplications in the 22q11.2 region can cause 22q11.2 duplication syndrome and encompass a variety of phenotypes including developmental delays, facial abnormalities, cardiovascular defects, central nervous system delays, and other congenital abnormalities. However, the contribution of these contiguous duplicated regions to the clinical phenotypes has not been fully elucidated. In this study, we identified nine patients carrying different 22q11.2 microduplications detected by chromosomal microarray. Of these patients, seven pediatric patients presented with various clinical features including two neonate cases died shortly after birth, and two healthy adults. We examined region specific genotype–phenotype associations and found unpredictability associated with 22q11.2 duplications in these nine patients.     

Reciprocal translocation mosaicism in man

We report on an8-month-old girl with a de novo 5q/6q autosomal translocation with loss of the distal part of the long arm of chromosome 6 (6q23.3→6qter); clinical manifestations are peculiar craniofacial stigmata, truncal obesity and persisting hypotonia. The similarity with a previously reported patient with 6q interstitial deletion is discussed.     

Predicting development of sustained unresponsiveness to milk oral immunotherapy using epitope-specific antibody binding profiles

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Genotype-phenotype correlation in von Hippel-Lindau families with renal lesions

von Hippel-Lindau (VHL) disease arises from mutations in the VHL gene and predisposes patients to develop a variety of tumors in different organs. In the kidney, single or multiple cysts and renal cell carcinomas (RCC) may occur. Both inter- and intrafamilial heterogeneity in clinical expression are well recognized. To identify VHL-dependent genetic factors, we investigated the renal phenotype in 274 individuals from 126 unrelated VHL families in whom 92 different VHL mutations were characterized. The incidence of renal involvement was increased in families with mutations leading to truncated protein (MLTP) or large rearrangement, as compared to families with missense changes (81 vs. 63%, respectively; P=0.03). In the latter group, we identified two mutation cluster regions (MCRs) associated with a high risk of harboring renal lesions: MCR-1 (codons 74-90) and MCR-2 (codons 130-136). In addition, the incidence of RCC was higher in families with MLTP than in families with missense changes (75 vs. 57%; P=0.04). Furthermore, mutations within MCR-1 but not MCR-2 conferred genetic susceptibility to develop RCC. Overall, our data argued for a substantial contribution of the genetic change in the VHL gene to susceptibility to renal phenotype in VHL patients.     

A deletion–insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation‐Ia

Congenital disorders of glycosylation (CDG) are a group of metabolic disorders with multisystemic involvement characterized by abnormalities in the synthesis of N‐linked oligosaccharides. The most common form, CDG‐Ia, resulting from mutations in the gene encoding the enzyme phosphomannomutase (PMM2), manifests with severe abnormalities in psychomotor development, dysmorphic features and visceral involvement. While this disorder is panethnic, we present the first cases of CDG‐Ia identified in an African American family with two affected sisters. The proband had failure to thrive in infancy, hypotonia, ataxia, cerebellar hypoplasia and developmental delay. On examination, she also exhibited strabismus, inverted nipples and an atypical perineal fat distribution, all features characteristic of CDG‐Ia. Direct sequencing demonstrated that the patient had a unique genotype, T237M/c.565‐571 delAGAGAT insGTGGATTTCC. The novel deletion–insertion mutation, which was confirmed by subcloning and sequencing of each allele, introduces a stop codon 11 amino acids downstream from the site of the deletion. The presence of this deletion–insertion mutation at cDNA position 565 suggests that this site in the PMM2 gene may be a hotspot for chromosomal breakage. Published 2002 Wiley‐Liss, Inc.     

类金刚石薄膜蛋白吸附与碳相成分关系的定量分析研究

运用灰色系统理论中的 T型关联度分析方法 ,对类金刚石 (DL C)薄膜、富石墨相 DL C薄膜和富金刚石相 DL C薄膜三种 DL C薄膜进行了碳相成分对其白蛋白 (HSA)、纤维蛋白原 (HFG)、免疫球蛋白 (Ig G)三种血浆蛋白吸附量影响的定量分析研究。合理地解释了三种材料蛋白吸附量随碳相成分变化的实验结果 ,并得出如下重要的分析结论 :(1)石墨和 C- H相对 HSA的吸附影响较大 ,随着二者的增加 ,HSA的吸附量下降 ;(2 )与 HFG吸附有较强关联的碳相成分是 DL C相和 C- O相 ,前者呈负相关 ,后者为正相关 ;(3)各碳相成分对 Ig G的吸附均有性质不尽相同的影响 ,但程度有限 ,且彼此间相差不大 ;(4 ) DL C碳相具有增强 HSA吸附、抑制 HFG、Ig G吸附的双重功效 ,其对 DL C薄膜血液相容性的影响远较其它碳相成分更为重要。     

Cervical cancer screening program of Paraná: cytohistological correlation results after five years

Since its inception in November 1997, the Cervical Cancer Screening Program of Paraná (CCSPP), Brazil, has resulted in the cytological screening of 2,244,158 women, the coverage of the female population increasing from 43% to 86%. One thousand six hundred one cases screened by cytology, submitted to colposcopy, and subjected to treatment were selected. Cytopathological results were compared with those obtained on the basis of histological analyses of the loop electrical excision procedure specimens, and were subjected to statistical analyses. The data obtained were then compared with cytohistological correlation results from the first year of the program. Considering the exact correlation between cytological and histological diagnoses, the correlation index increased from 53.34% in the first year to 67.3% at the end of 5 yr of the program. Variations that occurred in each diagnostic category are discussed. This study demonstrates a significant improvement in the concordance between cytological and histological results for the 5-yr period compared with the first year of the CCSPP.     

儿童青少年心理健康量表的编制和信效度检验

目的:编制一个用于儿童和青少年的心理健康量表,检验其信度和效度。方法:用新编的心理健康量表测查全国12个省(市)9278名儿童或他们的父母和143名异常样本,间隔5周的重测样本有87人,父母和儿童报告一致性检验样本56人,效标效度样本30人。用相关分析和因素分析考查量表的信度和效度。结果:新编量表的重测信度为0·713,Crobachα系数为0·847,分半信度为0·800,评定者信度为0·874;正常儿童在量表上的得分显著高于异常样本的得分(F=63·34-238·8,P<0·01);新编量表总分及分量表与儿童行为量表(CBCL)得分有一定的正或负的相关(r=0·27~0·609,P<0·05或0·01);探索性因素分析和验证性因素分析结果显示因素模式与量表编制者的理论构想一致。结论:儿少心理健康量表具有较好的信度和效度,可以用于儿童和青少年的心理健康评估。